From 80a00ba0e2df1f4540ffadfeb644ed6f08486def Mon Sep 17 00:00:00 2001 From: Nico Matentzoglu Date: Fri, 31 May 2024 11:58:42 +0300 Subject: [PATCH] Fixed the remaining issues of the pipeline --- src/mappings/mondo-nando.sssom.tsv | 4694 ++-- .../external/nando-mappings.robot.owl | 18768 +++++++++++++++- .../external/nando-mappings.robot.tsv | 4692 ++-- src/ontology/mondo-ingest.Makefile | 5 + 4 files changed, 23465 insertions(+), 4694 deletions(-) diff --git a/src/mappings/mondo-nando.sssom.tsv b/src/mappings/mondo-nando.sssom.tsv index 2827d3ec..9be6db7c 100644 --- a/src/mappings/mondo-nando.sssom.tsv +++ b/src/mappings/mondo-nando.sssom.tsv @@ -12,2355 +12,2355 @@ # skos: http://www.w3.org/2004/02/skos/core# # sssom: https://w3id.org/sssom/ # license: https://creativecommons.org/licenses/by/4.0/ -# mapping_provider: http://nanbyodata.jp +# mapping_provider: MONDO:NANDO # mapping_set_description: This mapping set is manually curated by the NANDO team at # nanbyodata.jp. -# mapping_set_id: https://w3id.org/sssom/mappings/a6343dbe-7053-491b-8790-68defac5af21 +# mapping_set_id: https://w3id.org/sssom/mappings/efd77aeb-7328-429f-a425-44497b148b42 # mapping_set_title: NANDO - Mondo mappings provided by nanbyodata.jp subject_id subject_label predicate_id object_id object_label mapping_justification -MONDO:0019056 neuromuscular disease skos:exactMatch NANDO:1100001 Neuromuscular disease semapv:MappingInversion -MONDO:0004955 obsolete metabolic syndrome skos:exactMatch NANDO:1100002 Metabolic disease semapv:MappingInversion -MONDO:0005066 metabolic disease skos:exactMatch NANDO:1100002 Metabolic disease semapv:MappingInversion -MONDO:0005046 immune system disorder skos:exactMatch NANDO:1100004 Immune system disease semapv:MappingInversion -MONDO:0004995 cardiovascular disorder skos:exactMatch NANDO:1100005 Cardiovascular disease semapv:MappingInversion -MONDO:0005570 hematologic disorder skos:exactMatch NANDO:1100006 Blood disease semapv:MappingInversion -MONDO:0005151 endocrine system disorder skos:exactMatch NANDO:1100009 Endocrine disease semapv:MappingInversion -MONDO:0005087 respiratory system disorder skos:exactMatch NANDO:1100010 Respiratory disease semapv:MappingInversion -MONDO:0004335 digestive system disorder skos:exactMatch NANDO:1100013 Gastrointestinal disease semapv:MappingInversion -MONDO:0019040 chromosomal disorder skos:exactMatch NANDO:1100014 Chromosome abnormality semapv:MappingInversion -MONDO:0024623 otorhinolaryngologic disease skos:exactMatch NANDO:1100015 Otorhinolaryngological disease semapv:MappingInversion -MONDO:0010735 Kennedy disease skos:exactMatch NANDO:1200001 Spinal and bulbar muscular atrophy semapv:MappingInversion -MONDO:0016113 bulbospinal muscular atrophy skos:exactMatch NANDO:1200001 Spinal and bulbar muscular atrophy semapv:MappingInversion -MONDO:0004976 amyotrophic lateral sclerosis skos:exactMatch NANDO:1200002 Amyotrophic lateral sclerosis semapv:MappingInversion -MONDO:0001516 spinal muscular atrophy skos:exactMatch NANDO:1200003 Spinal muscular atrophy semapv:MappingInversion -MONDO:0009669 spinal muscular atrophy, type 1 skos:exactMatch NANDO:1200004 Spinal muscular atrophy type I semapv:MappingInversion -MONDO:0009673 spinal muscular atrophy, type II skos:exactMatch NANDO:1200005 Spinal muscular atrophy type II semapv:MappingInversion -MONDO:0009672 spinal muscular atrophy, type III skos:exactMatch NANDO:1200006 Spinal muscular atrophy type III semapv:MappingInversion -MONDO:0010056 spinal muscular atrophy, type IV skos:exactMatch NANDO:1200007 Spinal muscular atrophy type IV semapv:MappingInversion -MONDO:0018155 lateral sclerosis skos:exactMatch NANDO:1200008 Primary lateral sclerosis semapv:MappingInversion -MONDO:0019037 progressive supranuclear palsy skos:exactMatch NANDO:1200009 Progressive supranuclear palsy semapv:MappingInversion -MONDO:0005180 Parkinson disease skos:exactMatch NANDO:1200010 Parkinson's disease semapv:MappingInversion -MONDO:0022308 corticobasal degeneration disorder skos:exactMatch NANDO:1200011 Corticobasal degeneration semapv:MappingInversion -MONDO:0022880 obsolete corticobasal degeneration skos:exactMatch NANDO:1200011 Corticobasal degeneration semapv:MappingInversion -MONDO:0007739 Huntington disease skos:exactMatch NANDO:1200012 Huntington's disease semapv:MappingInversion -MONDO:0016987 neuroacanthocytosis skos:exactMatch NANDO:1200013 Neuroacanthocytosis semapv:MappingInversion -MONDO:0008695 chorea-acanthocytosis skos:exactMatch NANDO:1200014 Chorea-acanthocytosis semapv:MappingInversion -MONDO:0018945 McLeod neuroacanthocytosis syndrome skos:exactMatch NANDO:1200015 McLeod syndrome semapv:MappingInversion -MONDO:0015626 Charcot-Marie-Tooth disease skos:exactMatch NANDO:1200016 Charcot-Marie-Tooth disease semapv:MappingInversion -MONDO:0019011 Charcot-Marie-Tooth disease type 1 skos:exactMatch NANDO:1200017 Charcot-Marie-Tooth disease type 1 semapv:MappingInversion -MONDO:0018993 Charcot-Marie-Tooth disease type 2 skos:exactMatch NANDO:1200018 Charcot-Marie-Tooth disease type 2 semapv:MappingInversion -MONDO:0018778 intermediate Charcot-Marie-Tooth disease skos:exactMatch NANDO:1200019 Intermediate Charcot-Marie-Tooth disease semapv:MappingInversion -MONDO:0009688 myasthenia gravis skos:exactMatch NANDO:1200020 Myasthenia gravis semapv:MappingInversion -MONDO:0018940 congenital myasthenic syndrome skos:exactMatch NANDO:1200021 Congenital myasthenic syndrome semapv:MappingInversion -MONDO:0005301 multiple sclerosis skos:exactMatch NANDO:1200023 Multiple sclerosis semapv:MappingInversion -MONDO:0005314 relapsing-remitting multiple sclerosis skos:exactMatch NANDO:1200024 Relapsing-remitting multiple sclerosis semapv:MappingInversion -MONDO:0000451 primary progressive multiple sclerosis skos:exactMatch NANDO:1200025 Primary progressive multiple sclerosis semapv:MappingInversion -MONDO:0000450 secondary progressive multiple sclerosis skos:exactMatch NANDO:1200026 Secondary progressive multiple sclerosis semapv:MappingInversion -MONDO:0019100 neuromyelitis optica skos:exactMatch NANDO:1200027 Neuromyelitis optica spectrum disorders semapv:MappingInversion -MONDO:0016430 Balo concentric sclerosis skos:exactMatch NANDO:1200028 Baló concentric sclerosis semapv:MappingInversion -MONDO:0002335 chronic inflammatory demyelinating polyneuritis skos:exactMatch NANDO:1200030 Chronic inflammatory demyelinating polyneuropathy semapv:MappingInversion -MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy skos:exactMatch NANDO:1200030 Chronic inflammatory demyelinating polyneuropathy semapv:MappingInversion -MONDO:0007691 Guillain-Barre syndrome, familial skos:exactMatch NANDO:1200030 Chronic inflammatory demyelinating polyneuropathy semapv:MappingInversion -MONDO:0018979 multifocal motor neuropathy skos:exactMatch NANDO:1200031 Multifocal motor neuropathy semapv:MappingInversion -MONDO:0007827 inclusion body myositis skos:exactMatch NANDO:1200032 Sporadic inclusion body myositis semapv:MappingInversion -MONDO:0017364 POEMS syndrome skos:exactMatch NANDO:1200033 Crow-Fukase syndrome semapv:MappingInversion -MONDO:0007803 multiple system atrophy skos:exactMatch NANDO:1200034 Multiple system atrophy semapv:MappingInversion -MONDO:0016418 multiple system atrophy, cerebellar type skos:exactMatch NANDO:1200035 Multiple system atrophy, cerebellar type semapv:MappingInversion -MONDO:0020352 multiple system atrophy, parkinsonian type skos:exactMatch NANDO:1200036 Multiple system atrophy, Parkinsonian type semapv:MappingInversion -MONDO:0000437 cerebellar ataxia skos:exactMatch NANDO:1200037 Spinocerebellar degeneration semapv:MappingInversion -MONDO:0007182 Machado-Joseph disease skos:exactMatch NANDO:1200041 Spinocerebellar ataxia type 3 semapv:MappingInversion -MONDO:0008457 spinocerebellar ataxia type 6 skos:exactMatch NANDO:1200042 Spinocerebellar ataxia type 6 semapv:MappingInversion -MONDO:0007435 dentatorubral-pallidoluysian atrophy skos:exactMatch NANDO:1200043 Dentatorubropallidoluysian atrophy semapv:MappingInversion -MONDO:0007296 spinocerebellar ataxia type 31 skos:exactMatch NANDO:1200044 Spinocerebellar ataxia type 31 semapv:MappingInversion -MONDO:0008119 spinocerebellar ataxia type 1 skos:exactMatch NANDO:1200045 Spinocerebellar ataxia type 1 semapv:MappingInversion -MONDO:0008458 spinocerebellar ataxia type 2 skos:exactMatch NANDO:1200046 Spinocerebellar ataxia type 2 semapv:MappingInversion -MONDO:0008120 obsolete spinocerebellar ataxia type 7 skos:exactMatch NANDO:1200047 Spinocerebellar ataxia type 7 semapv:MappingInversion -MONDO:0013594 spinocerebellar ataxia type 36 skos:exactMatch NANDO:1200048 Spinocerebellar ataxia type 36 semapv:MappingInversion -MONDO:0010188 familial isolated deficiency of vitamin E skos:exactMatch NANDO:1200050 Ataxia with isolated vitamin E deficiency semapv:MappingInversion -MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:exactMatch NANDO:1200051 Ataxia-oculomotor apraxia type 1 semapv:MappingInversion -MONDO:0019064 hereditary spastic paraplegia skos:exactMatch NANDO:1200052 Hereditary spastic paraplegia semapv:MappingInversion -MONDO:0015149 pure hereditary spastic paraplegia skos:exactMatch NANDO:1200053 Pure hereditary spastic paraplegia semapv:MappingInversion -MONDO:0015150 complex hereditary spastic paraplegia skos:exactMatch NANDO:1200054 Complex hereditary spastic paraplegia semapv:MappingInversion -MONDO:0002561 lysosomal storage disease skos:exactMatch NANDO:1200055 Lysosomal storage disease semapv:MappingInversion -MONDO:0018150 Gaucher disease skos:exactMatch NANDO:1200056 Gaucher disease semapv:MappingInversion -MONDO:0009265 Gaucher disease type I skos:exactMatch NANDO:1200057 Gaucher disease type 1 semapv:MappingInversion -MONDO:0009266 Gaucher disease type II skos:exactMatch NANDO:1200058 Gaucher disease type 2 semapv:MappingInversion -MONDO:0009267 Gaucher disease type III skos:exactMatch NANDO:1200059 Gaucher disease type 3 semapv:MappingInversion -MONDO:0009756 Niemann-Pick disease type A skos:exactMatch NANDO:1200061 Niemann-Pick disease type A semapv:MappingInversion -MONDO:0011871 Niemann-Pick disease type B skos:exactMatch NANDO:1200062 Niemann-Pick disease type B semapv:MappingInversion -MONDO:0018982 Niemann-Pick disease type C skos:exactMatch NANDO:1200063 Niemann-Pick disease type C semapv:MappingInversion -MONDO:0016310 Niemann-Pick disease type C, adult neurologic onset skos:exactMatch NANDO:1200065 Adult-onset Niemann-Pick disease type C semapv:MappingInversion -MONDO:0018149 GM1 gangliosidosis skos:exactMatch NANDO:1200066 GM1 gangliosidosis semapv:MappingInversion -MONDO:0009260 GM1 gangliosidosis type 1 skos:exactMatch NANDO:1200067 Infantile GM1 gangliosidosis semapv:MappingInversion -MONDO:0009261 GM1 gangliosidosis type 2 skos:exactMatch NANDO:1200068 Juvenile GM1 gangliosidosis semapv:MappingInversion -MONDO:0009262 GM1 gangliosidosis type 3 skos:exactMatch NANDO:1200069 Adult GM1 gangliosidosis semapv:MappingInversion -MONDO:0017720 GM2 gangliosidosis skos:exactMatch NANDO:1200070 GM2 gangliosidosis semapv:MappingInversion -MONDO:0010100 Tay-Sachs disease skos:exactMatch NANDO:1200071 Tay-Sachs disease semapv:MappingInversion -MONDO:0010006 Sandhoff disease skos:exactMatch NANDO:1200072 Sandhoff disease semapv:MappingInversion -MONDO:0010099 Tay-Sachs disease AB variant skos:exactMatch NANDO:1200073 GM2 gangliosidosis AB variant semapv:MappingInversion -MONDO:0009499 Krabbe disease skos:exactMatch NANDO:1200074 Krabbe disease semapv:MappingInversion -MONDO:0016089 infantile Krabbe disease skos:exactMatch NANDO:1200075 Infantile Krabbe disease semapv:MappingInversion -MONDO:0016091 adult Krabbe disease skos:exactMatch NANDO:1200077 Adult Krabbe disease semapv:MappingInversion -MONDO:0018868 metachromatic leukodystrophy skos:exactMatch NANDO:1200078 Metachromatic leukodystrophy semapv:MappingInversion -MONDO:0017729 metachromatic leukodystrophy, late infantile form skos:exactMatch NANDO:1200079 Late infantile metachromatic leukodystrophy semapv:MappingInversion -MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:exactMatch NANDO:1200080 Juvenile ｍetachromatic leukodystrophy semapv:MappingInversion -MONDO:0017730 metachromatic leukodystrophy, adult form skos:exactMatch NANDO:1200081 Adult metachromatic leukodystrophy semapv:MappingInversion -MONDO:0009590 metachromatic leukodystrophy due to saposin B deficiency skos:exactMatch NANDO:1200082 Saposin B deficiency semapv:MappingInversion -MONDO:0010088 mucosulfatidosis skos:exactMatch NANDO:1200083 Multiple sulfatase deficiency semapv:MappingInversion -MONDO:0009218 Farber lipogranulomatosis skos:exactMatch NANDO:1200086 Farber disease semapv:MappingInversion -MONDO:0011758 Hurler syndrome skos:exactMatch NANDO:1200094 Hurler syndrome semapv:MappingInversion -MONDO:0011760 Scheie syndrome skos:exactMatch NANDO:1200095 Scheie syndrome semapv:MappingInversion -MONDO:0011759 Hurler-Scheie syndrome skos:exactMatch NANDO:1200096 Hurler-Scheie syndrome semapv:MappingInversion -MONDO:0010674 mucopolysaccharidosis type 2 skos:exactMatch NANDO:1200097 Hunter syndrome semapv:MappingInversion -MONDO:0016315 mucopolysaccharidosis type 2, severe form skos:exactMatch NANDO:1200098 Hunter syndrome type A semapv:MappingInversion -MONDO:0016316 mucopolysaccharidosis type 2, attenuated form skos:exactMatch NANDO:1200099 Hunter syndrome type B semapv:MappingInversion -MONDO:0018937 mucopolysaccharidosis type 3 skos:exactMatch NANDO:1200100 Sanfilippo disease semapv:MappingInversion -MONDO:0009655 mucopolysaccharidosis type 3A skos:exactMatch NANDO:1200101 Sanfilippo disease type A semapv:MappingInversion -MONDO:0009656 mucopolysaccharidosis type 3B skos:exactMatch NANDO:1200102 Sanfilippo disease type B semapv:MappingInversion -MONDO:0009657 mucopolysaccharidosis type 3C skos:exactMatch NANDO:1200103 Sanfilippo disease type C semapv:MappingInversion -MONDO:0009658 mucopolysaccharidosis type 3D skos:exactMatch NANDO:1200104 Sanfilippo disease type D semapv:MappingInversion -MONDO:0018938 mucopolysaccharidosis type 4 skos:exactMatch NANDO:1200105 Morquio syndrome semapv:MappingInversion -MONDO:0009659 mucopolysaccharidosis type 4A skos:exactMatch NANDO:1200106 Morquio syndrome type A semapv:MappingInversion -MONDO:0009660 mucopolysaccharidosis type 4B skos:exactMatch NANDO:1200107 Morquio syndrome type B semapv:MappingInversion -MONDO:0009661 mucopolysaccharidosis type 6 skos:exactMatch NANDO:1200108 Maroteaux-Lamy syndrome semapv:MappingInversion -MONDO:0009661 mucopolysaccharidosis type 6 skos:exactMatch NANDO:1200109 Maroteaux Lamy syndrome, rapidly progressing form semapv:MappingInversion -MONDO:0009661 mucopolysaccharidosis type 6 skos:exactMatch NANDO:1200110 Maroteaux Lamy syndrome, slowly progressing form semapv:MappingInversion -MONDO:0009662 mucopolysaccharidosis type 7 skos:exactMatch NANDO:1200111 Sly syndrome semapv:MappingInversion -MONDO:0011093 mucopolysaccharidosis type 9 skos:exactMatch NANDO:1200115 Hyaluronidase deficiency semapv:MappingInversion -MONDO:0017734 sialidosis skos:exactMatch NANDO:1200116 Sialidosis semapv:MappingInversion -MONDO:0019346 sialidosis type 1 skos:exactMatch NANDO:1200117 Sialidosis type 1 semapv:MappingInversion -MONDO:0009738 sialidosis type 2 skos:exactMatch NANDO:1200118 Sialidosis type 2 semapv:MappingInversion -MONDO:0009737 galactosialidosis skos:exactMatch NANDO:1200119 Galactosialidosis semapv:MappingInversion -MONDO:0009738 sialidosis type 2 skos:exactMatch NANDO:1200120 Galactosialidosis, early infantile form semapv:MappingInversion -MONDO:0009650 mucolipidosis type II skos:exactMatch NANDO:1200124 Mucolipidosis II semapv:MappingInversion -MONDO:0018931 mucolipidosis type III, alpha/beta skos:exactMatch NANDO:1200125 Mucolipidosis III semapv:MappingInversion -MONDO:0009561 alpha-mannosidosis skos:exactMatch NANDO:1200126 Alpha-mannosidosis semapv:MappingInversion -MONDO:0017732 alpha-mannosidosis, infantile form skos:exactMatch NANDO:1200127 Alpha-mannosidosis, infantile form semapv:MappingInversion -MONDO:0022424 alpha-mannosidosis type 1 skos:exactMatch NANDO:1200127 Alpha-mannosidosis, infantile form semapv:MappingInversion -MONDO:0017733 alpha-mannosidosis, adult form skos:exactMatch NANDO:1200128 Alpha-mannosidosis, adult form semapv:MappingInversion -MONDO:0009562 beta-mannosidosis skos:exactMatch NANDO:1200129 Beta-mannosidosis semapv:MappingInversion -MONDO:0009254 fucosidosis skos:exactMatch NANDO:1200130 Fucosidosis semapv:MappingInversion -MONDO:0008830 aspartylglucosaminuria skos:exactMatch NANDO:1200133 Aspartylglucosaminuria semapv:MappingInversion -MONDO:0017779 alpha-N-acetylgalactosaminidase deficiency skos:exactMatch NANDO:1200134 Schindler disease semapv:MappingInversion -MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 skos:exactMatch NANDO:1200135 Schindler disease type I semapv:MappingInversion -MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:exactMatch NANDO:1200136 Schindler disease type 2 semapv:MappingInversion -MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 skos:exactMatch NANDO:1200137 Schindler disease type 3 semapv:MappingInversion -MONDO:0009290 glycogen storage disease II skos:exactMatch NANDO:1200138 Pompe disease semapv:MappingInversion -MONDO:0017694 glycogen storage disease due to acid maltase deficiency, infantile onset skos:exactMatch NANDO:1200139 Classic infantile Pompe disease semapv:MappingInversion -MONDO:0019148 Wolman disease skos:exactMatch NANDO:1200142 Acid lipase deficiency semapv:MappingInversion -MONDO:0019148 Wolman disease skos:exactMatch NANDO:1200143 Wolman disease semapv:MappingInversion -MONDO:0019149 cholesteryl ester storage disease skos:exactMatch NANDO:1200144 Cholesterol ester storage disease semapv:MappingInversion -MONDO:0010281 Danon disease skos:exactMatch NANDO:1200145 Danon disease semapv:MappingInversion -MONDO:0019366 free sialic acid storage disease skos:exactMatch NANDO:1200146 Free sialic acid storage disease semapv:MappingInversion -MONDO:0010027 free sialic acid storage disease, infantile form skos:exactMatch NANDO:1200147 Infantile free sialic acid storage disease semapv:MappingInversion -MONDO:0017737 intermediate severe Salla disease skos:exactMatch NANDO:1200148 Intermediate severe Salla disease semapv:MappingInversion -MONDO:0011449 Salla disease skos:exactMatch NANDO:1200149 Salla disease semapv:MappingInversion -MONDO:0016295 neuronal ceroid lipofuscinosis skos:exactMatch NANDO:1200150 Neuronal ceroid-lipofuscinosis semapv:MappingInversion -MONDO:0008956 obsolete congenital neuronal ceroid lipofuscinosis skos:exactMatch NANDO:1200151 Congenital neuronal ceroid lipofuscinosis semapv:MappingInversion -MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:exactMatch NANDO:1200152 Infantile neuronal ceroid lipofuscinosis semapv:MappingInversion -MONDO:0019261 infantile neuronal ceroid lipofuscinosis skos:exactMatch NANDO:1200152 Infantile neuronal ceroid lipofuscinosis semapv:MappingInversion -MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:exactMatch NANDO:1200153 Late infantile neuronal ceroid lipofuscinosis semapv:MappingInversion -MONDO:0015674 late infantile neuronal ceroid lipofuscinosis skos:exactMatch NANDO:1200153 Late infantile neuronal ceroid lipofuscinosis semapv:MappingInversion -MONDO:0019262 juvenile neuronal ceroid lipofuscinosis skos:exactMatch NANDO:1200154 Juvenile neuronal ceroid lipofuscinosis semapv:MappingInversion -MONDO:0019260 adult neuronal ceroid lipofuscinosis skos:exactMatch NANDO:1200155 Adult neuronal ceroid lipofuscinosis semapv:MappingInversion -MONDO:0010526 Fabry disease skos:exactMatch NANDO:1200157 Fabry disease semapv:MappingInversion -MONDO:0016239 cystinosis skos:exactMatch NANDO:1200161 Cystinosis semapv:MappingInversion -MONDO:0018467 nephropathic infantile cystinosis skos:exactMatch NANDO:1200162 Nephropathic cystinosis semapv:MappingInversion -MONDO:0100151 nephropathic cystinosis skos:exactMatch NANDO:1200162 Nephropathic cystinosis semapv:MappingInversion -MONDO:0009066 juvenile nephropathic cystinosis skos:exactMatch NANDO:1200163 Intermediate cystinosis semapv:MappingInversion -MONDO:0009064 ocular cystinosis skos:exactMatch NANDO:1200164 Non-nephropathic cystinosis semapv:MappingInversion -MONDO:0018544 adrenoleukodystrophy skos:exactMatch NANDO:1200165 Adrenoleukodystrophy semapv:MappingInversion -MONDO:0010247 X-linked cerebral adrenoleukodystrophy skos:exactMatch NANDO:1200166 Childhood cerebral adrenoleukodystrophy semapv:MappingInversion -MONDO:0015339 adrenomyeloneuropathy skos:exactMatch NANDO:1200168 Adrenomyeloneuropathy semapv:MappingInversion -MONDO:0004069 inborn mitochondrial metabolism disorder skos:exactMatch NANDO:1200173 Mitochondrial diseases semapv:MappingInversion -MONDO:0044970 mitochondrial disease skos:exactMatch NANDO:1200173 Mitochondrial diseases semapv:MappingInversion -MONDO:0005181 progressive external ophthalmoplegia skos:exactMatch NANDO:1200174 Chronic progressive external ophthalmoplegia semapv:MappingInversion -MONDO:0009723 Leigh syndrome skos:exactMatch NANDO:1200175 Leigh's encephalomyelopathy semapv:MappingInversion -MONDO:0010789 MELAS syndrome skos:exactMatch NANDO:1200176 Mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes syndrome semapv:MappingInversion -MONDO:0010790 MERRF syndrome skos:exactMatch NANDO:1200177 Myoclonus epilepsy associated with ragged-red fibers semapv:MappingInversion -MONDO:0010788 Leber hereditary optic neuropathy skos:exactMatch NANDO:1200178 Leber hereditary optic neuropathy semapv:MappingInversion -MONDO:0100133 mitochondrial complex I deficiency skos:exactMatch NANDO:1200180 Mitochondrial complex I deficiency semapv:MappingInversion -MONDO:0100224 mitochondrial complex I deficiency, nuclear type 1 skos:exactMatch NANDO:1200180 Mitochondrial complex I deficiency semapv:MappingInversion -MONDO:0009641 obsolete mitochondrial complex II deficiency skos:exactMatch NANDO:1200181 Mitochondrial complex II deficiency semapv:MappingInversion -MONDO:0016820 Moyamoya disease skos:exactMatch NANDO:1200183 Moyamoya disease semapv:MappingInversion -MONDO:0005429 prion disease skos:exactMatch NANDO:1200186 Prion disease semapv:MappingInversion -MONDO:0016079 sporadic Creutzfeldt-Jakob disease skos:exactMatch NANDO:1200187 Sporadic Creutzfeldt-Jakob disease semapv:MappingInversion -MONDO:0017234 inherited prion disease skos:exactMatch NANDO:1200188 Genetic prion diseases semapv:MappingInversion -MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:exactMatch NANDO:1200189 Familial Creutzfeldt-Jakob disease semapv:MappingInversion -MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome skos:exactMatch NANDO:1200190 Gerstmann-Straussler-Scheinker syndrome semapv:MappingInversion -MONDO:0010808 fatal familial insomnia skos:exactMatch NANDO:1200191 Fatal familial insomnia semapv:MappingInversion -MONDO:0018686 acquired Creutzfeldt-Jakob disease skos:exactMatch NANDO:1200192 Environmentally acquired Creutzfeldt-Jakob disease semapv:MappingInversion -MONDO:0034976 iatrogenic Creutzfeldt-Jakob disease skos:exactMatch NANDO:1200193 Iatrogenic Creutzfeldt-Jakob disease semapv:MappingInversion -MONDO:0007012 variant Creutzfeldt-Jakob disease skos:exactMatch NANDO:1200194 Variant Creutzfeldt-Jakob disease semapv:MappingInversion -MONDO:0009835 subacute sclerosing panencephalitis skos:exactMatch NANDO:1200195 Subacute sclerosing panencephalitis semapv:MappingInversion -MONDO:0009835 subacute sclerosing panencephalitis skos:exactMatch NANDO:1200196 Typical subacute sclerosing panencephalitis semapv:MappingInversion -MONDO:0009835 subacute sclerosing panencephalitis skos:exactMatch NANDO:1200198 Subacute progressive sclerosing panencephalitis semapv:MappingInversion -MONDO:0016318 progressive multifocal leukoencephalopathy skos:exactMatch NANDO:1200205 Progressive multifocal leukoencephalopathy semapv:MappingInversion -MONDO:0008039 tropical spastic paraparesis skos:exactMatch NANDO:1200206 HTLV-1-associated myelopathy semapv:MappingInversion -MONDO:0008947 bilateral striopallidodentate calcinosis skos:exactMatch NANDO:1200207 Idiopathic basal ganglia calcification semapv:MappingInversion -MONDO:0024538 basal ganglia calcification, idiopathic, 1 skos:exactMatch NANDO:1200208 Familial idiopathic basal ganglia calcification semapv:MappingInversion -MONDO:0017816 primary systemic amyloidosis skos:exactMatch NANDO:1200209 Systemic amyloidosis semapv:MappingInversion -MONDO:0019438 AL amyloidosis skos:exactMatch NANDO:1200211 Amyloid light-chain amyloidosis semapv:MappingInversion -MONDO:0018018 wild type ATTR amyloidosis skos:exactMatch NANDO:1200212 Transthyretin-related senile systemic amyloidosis semapv:MappingInversion -MONDO:0007100 familial amyloid neuropathy skos:exactMatch NANDO:1200214 Familial amyloid polyneuropathy semapv:MappingInversion -MONDO:0000355 Ullrich congenital muscular dystrophy skos:exactMatch NANDO:1200215 Ullrich disease semapv:MappingInversion -MONDO:0009681 Ullrich congenital muscular dystrophy 1 skos:exactMatch NANDO:1200215 Ullrich disease semapv:MappingInversion -MONDO:0018949 distal myopathy skos:exactMatch NANDO:1200216 Distal myopathy semapv:MappingInversion -MONDO:0009685 Miyoshi myopathy skos:exactMatch NANDO:1200217 Miyoshi myopathy semapv:MappingInversion -MONDO:0007827 inclusion body myositis skos:exactMatch NANDO:1200218 Distal myopathy with rimmed vacuoles semapv:MappingInversion -MONDO:0011603 GNE myopathy skos:exactMatch NANDO:1200218 Distal myopathy with rimmed vacuoles semapv:MappingInversion -MONDO:0014945 myopathy, distal, with rimmed vacuoles skos:exactMatch NANDO:1200218 Distal myopathy with rimmed vacuoles semapv:MappingInversion -MONDO:0020793 oculopharyngodistal myopathy 1 skos:exactMatch NANDO:1200219 Oculopharyngodistal myopathy semapv:MappingInversion -MONDO:0025193 oculopharyngodistal myopathy skos:exactMatch NANDO:1200219 Oculopharyngodistal myopathy semapv:MappingInversion -MONDO:0008029 Bethlem myopathy skos:exactMatch NANDO:1200220 Bethlem Myopathy semapv:MappingInversion -MONDO:0010281 Danon disease skos:exactMatch NANDO:1200222 Danon disease semapv:MappingInversion -MONDO:0010684 X-linked myopathy with excessive autophagy skos:exactMatch NANDO:1200223 X-linked Myopathy with excessive autophagy semapv:MappingInversion -MONDO:0009717 Schwartz-Jampel syndrome skos:exactMatch NANDO:1200224 Schwartz-Jampel syndrome semapv:MappingInversion -MONDO:0018975 neurofibromatosis type 1 skos:exactMatch NANDO:1200225 Neurofibromatosis semapv:MappingInversion -MONDO:0021061 neurofibromatosis skos:exactMatch NANDO:1200225 Neurofibromatosis semapv:MappingInversion -MONDO:0018975 neurofibromatosis type 1 skos:exactMatch NANDO:1200226 Neurofibromatosis type 1 semapv:MappingInversion -MONDO:0021061 neurofibromatosis skos:exactMatch NANDO:1200226 Neurofibromatosis type 1 semapv:MappingInversion -MONDO:0007039 neurofibromatosis type 2 skos:exactMatch NANDO:1200227 Neurofibromatosis type 2 semapv:MappingInversion -MONDO:0021061 neurofibromatosis skos:exactMatch NANDO:1200227 Neurofibromatosis type 2 semapv:MappingInversion -MONDO:0006594 pemphigus skos:exactMatch NANDO:1200228 Pemphigus semapv:MappingInversion -MONDO:0008219 pemphigus vulgaris skos:exactMatch NANDO:1200229 Pemphigus vulgaris semapv:MappingInversion -MONDO:0019324 pemphigus foliaceus skos:exactMatch NANDO:1200230 Pemphigus foliaceus semapv:MappingInversion -MONDO:0018974 paraneoplastic pemphigus skos:exactMatch NANDO:1200231 Paraneoplastic pemphigus semapv:MappingInversion -MONDO:0019322 pemphigus vegetans skos:exactMatch NANDO:1200232 Pemphigus vegetans semapv:MappingInversion -MONDO:0019323 pemphigus erythematosus skos:exactMatch NANDO:1200233 Pemphigus erythematosus semapv:MappingInversion -MONDO:0006541 epidermolysis bullosa skos:exactMatch NANDO:1200234 Epidermolysis bullosa semapv:MappingInversion -MONDO:0017610 epidermolysis bullosa simplex skos:exactMatch NANDO:1200235 Epidermolysis bullosa simplex semapv:MappingInversion -MONDO:0017612 junctional epidermolysis bullosa skos:exactMatch NANDO:1200236 Junctional epidermolysis bullosa semapv:MappingInversion -MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:exactMatch NANDO:1200238 Recessive dystrophic epidermolysis bullosa semapv:MappingInversion -MONDO:0008260 Kindler syndrome skos:exactMatch NANDO:1200239 Kindler syndrome semapv:MappingInversion -MONDO:0016597 obsolete generalized pustular psoriasis skos:exactMatch NANDO:1200240 Pustular psoriasis semapv:MappingInversion -MONDO:0022205 pustular psoriasis skos:exactMatch NANDO:1200240 Pustular psoriasis semapv:MappingInversion -MONDO:0004591 impetigo herpetiformis skos:exactMatch NANDO:1200243 Impetigo herpetiformis semapv:MappingInversion -MONDO:0013626 psoriasis 14, pustular skos:exactMatch NANDO:1200244 Acrodermatitis continua of Hallopeau semapv:MappingInversion -MONDO:0018229 Stevens-Johnson syndrome skos:exactMatch NANDO:1200245 Stevens-Johnson syndrome semapv:MappingInversion -MONDO:0019810 toxic epidermal necrolysis skos:exactMatch NANDO:1200246 Toxic epidermal necrolysis semapv:MappingInversion -MONDO:0006656 aortitis skos:exactMatch NANDO:1200251 Takayasu arteritis semapv:MappingInversion -MONDO:0017991 Takayasu arteritis skos:exactMatch NANDO:1200251 Takayasu arteritis semapv:MappingInversion -MONDO:0008538 temporal arteritis skos:exactMatch NANDO:1200258 Giant cell arteritis semapv:MappingInversion -MONDO:0008538 temporal arteritis skos:exactMatch NANDO:1200259 Cranial giant cell arteritis semapv:MappingInversion -MONDO:0008538 temporal arteritis skos:exactMatch NANDO:1200260 Large-vessel giant cell arteritis semapv:MappingInversion -MONDO:0019170 polyarteritis nodosa skos:exactMatch NANDO:1200261 Polyarteritis nodosa semapv:MappingInversion -MONDO:0019124 microscopic polyangiitis skos:exactMatch NANDO:1200262 Microscopic polyangiitis semapv:MappingInversion -MONDO:0012105 granulomatosis with polyangiitis skos:exactMatch NANDO:1200263 Granulomatosis with polyangiitis semapv:MappingInversion -MONDO:0015943 eosinophilic granulomatosis with polyangiitis skos:exactMatch NANDO:1200264 Eosinophilic granulomatosis with polyangiitis semapv:MappingInversion -MONDO:0043267 rheumatoid vasculitis skos:exactMatch NANDO:1200265 Rheumatoid vasculitis semapv:MappingInversion -MONDO:0008889 thromboangiitis obliterans skos:exactMatch NANDO:1200266 Buerger's disease semapv:MappingInversion -MONDO:0005204 primary antiphospholipid syndrome skos:exactMatch NANDO:1200267 Primary antiphospholipid antibody syndrome semapv:MappingInversion -MONDO:0018737 catastrophic antiphospholipid syndrome skos:exactMatch NANDO:1200270 Catastrophic antiphospholipid syndrome semapv:MappingInversion -MONDO:0007140 obsolete antiphospholipid syndrome skos:exactMatch NANDO:1200271 Antiphospholipid antibody-related disease semapv:MappingInversion -MONDO:0007915 systemic lupus erythematosus skos:exactMatch NANDO:1200272 Systemic lupus erythematosus semapv:MappingInversion -MONDO:0016367 dermatomyositis skos:exactMatch NANDO:1200274 Dermatomyositis semapv:MappingInversion -MONDO:0043317 amyopathic dermatomyositis skos:exactMatch NANDO:1200275 Amyopathic dermatomyositis semapv:MappingInversion -MONDO:0019127 polymyositis skos:exactMatch NANDO:1200276 Polymyositis semapv:MappingInversion -MONDO:0005100 systemic sclerosis skos:exactMatch NANDO:1200277 Systemic sclerosis semapv:MappingInversion -MONDO:0005854 mixed connective tissue disease skos:exactMatch NANDO:1200278 Mixed connective tissue disease semapv:MappingInversion -MONDO:0010030 Sjogren syndrome skos:exactMatch NANDO:1200279 Sjogren's syndrome semapv:MappingInversion -MONDO:0010030 Sjogren syndrome skos:exactMatch NANDO:1200280 Primary Sjogren's syndrome semapv:MappingInversion -MONDO:0019355 adult-onset Still disease skos:exactMatch NANDO:1200282 Adult Still's disease semapv:MappingInversion -MONDO:0019125 relapsing polychondritis skos:exactMatch NANDO:1200283 Relapsing polychondritis semapv:MappingInversion -MONDO:0007191 Behcet disease skos:exactMatch NANDO:1200284 Behcet's disease semapv:MappingInversion -MONDO:0005045 hypertrophic cardiomyopathy skos:exactMatch NANDO:1200286 Hypertrophic cardiomyopathy semapv:MappingInversion -MONDO:0005045 hypertrophic cardiomyopathy skos:exactMatch NANDO:1200288 Hypertrophic obstructive cardiomyopathy semapv:MappingInversion -MONDO:0005201 restrictive cardiomyopathy skos:exactMatch NANDO:1200292 Restrictive cardiomyopathy semapv:MappingInversion -MONDO:0005201 restrictive cardiomyopathy skos:exactMatch NANDO:1200293 Idiopathic restrictive cardiomyopathy semapv:MappingInversion -MONDO:0016345 non-familial restrictive cardiomyopathy skos:exactMatch NANDO:1200294 Secondary restrictive cardiomyopathy semapv:MappingInversion -MONDO:0015909 aplastic anemia skos:exactMatch NANDO:1200295 Aplastic anemia semapv:MappingInversion -MONDO:0012197 idiopathic aplastic anemia skos:exactMatch NANDO:1200296 Idiopathic aplastic anemia semapv:MappingInversion -MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria skos:exactMatch NANDO:1200300 Aplastic anemia-paroxysmal nocturnal hemoglobinuria syndrome semapv:MappingInversion -MONDO:0013851 autosomal dominant aplasia and myelodysplasia skos:exactMatch NANDO:1200301 Borderline between aplastic anemia and MDS semapv:MappingInversion -MONDO:0015909 aplastic anemia skos:exactMatch NANDO:1200301 Borderline between aplastic anemia and MDS semapv:MappingInversion -MONDO:0001713 inherited aplastic anemia skos:exactMatch NANDO:1200302 Congenital aplastic anemia semapv:MappingInversion -MONDO:0019391 Fanconi anemia skos:exactMatch NANDO:1200303 Fanconi anemia semapv:MappingInversion -MONDO:0015780 dyskeratosis congenita skos:exactMatch NANDO:1200304 Dyskeratosis congenita semapv:MappingInversion -MONDO:0020108 autoimmune hemolytic anemia skos:exactMatch NANDO:1200305 Autoimmune hemolytic anemia semapv:MappingInversion -MONDO:0019532 autoimmune hemolytic anemia, warm type skos:exactMatch NANDO:1200306 Warm antibody hemolytic anemia semapv:MappingInversion -MONDO:0018922 cold agglutinin disease skos:exactMatch NANDO:1200307 Cold agglutinin disease semapv:MappingInversion -MONDO:0019533 paroxysmal cold hemoglobinuria skos:exactMatch NANDO:1200308 Paroxysmal cold hemoglobinuria semapv:MappingInversion -MONDO:0019534 mixed-type autoimmune hemolytic anemia skos:exactMatch NANDO:1200309 Mixed-type autoimmune hemolytic anemia semapv:MappingInversion -MONDO:0016030 Evans syndrome skos:exactMatch NANDO:1200310 Evans syndrome semapv:MappingInversion -MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria skos:exactMatch NANDO:1200311 Paroxysmal nocturnal hemoglobinuria semapv:MappingInversion -MONDO:0008558 autoimmune thrombocytopenic purpura skos:exactMatch NANDO:1200315 Idiopathic thrombocytopenic purpura semapv:MappingInversion -MONDO:0018896 thrombotic thrombocytopenic purpura skos:exactMatch NANDO:1200316 Thrombotic thrombocytopenic purpura semapv:MappingInversion -MONDO:0010122 congenital thrombotic thrombocytopenic purpura skos:exactMatch NANDO:1200317 Congenital thrombotic thrombocytopenic purpura semapv:MappingInversion -MONDO:0019740 acquired thrombotic thrombocytopenic purpura skos:exactMatch NANDO:1200318 Acquired idiopathic thrombotic thrombocytopenic purpura semapv:MappingInversion -MONDO:0019740 acquired thrombotic thrombocytopenic purpura skos:exactMatch NANDO:1200319 Secondary thrombotic thrombocytopenic purpura semapv:MappingInversion -MONDO:0003778 inborn error of immunity skos:exactMatch NANDO:1200320 Primary immunodeficiency syndrome semapv:MappingInversion -MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency skos:exactMatch NANDO:1200321 X-linked severe combined immunodeficiency semapv:MappingInversion -MONDO:0009973 reticular dysgenesis skos:exactMatch NANDO:1200322 Reticular dysgenesis semapv:MappingInversion -MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:exactMatch NANDO:1200323 Adenosine deaminase deficiency semapv:MappingInversion -MONDO:0011338 Omenn syndrome skos:exactMatch NANDO:1200324 Omenn syndrome semapv:MappingInversion -MONDO:0013171 purine nucleoside phosphorylase deficiency skos:exactMatch NANDO:1200325 Purine nucleoside phosphorylase deficiency semapv:MappingInversion -MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation skos:exactMatch NANDO:1200326 CD8 deficiency semapv:MappingInversion -MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency skos:exactMatch NANDO:1200327 Zap-70 deficiency semapv:MappingInversion -MONDO:0011476 MHC class I deficiency skos:exactMatch NANDO:1200328 MHC class I deficiency semapv:MappingInversion -MONDO:0008855 MHC class II deficiency skos:exactMatch NANDO:1200329 MHC class II deficiency semapv:MappingInversion -MONDO:0010518 Wiskott-Aldrich syndrome skos:exactMatch NANDO:1200330 Wiskott-Aldrich syndrome semapv:MappingInversion -MONDO:0008840 ataxia telangiectasia skos:exactMatch NANDO:1200331 Ataxia telangiectasia semapv:MappingInversion -MONDO:0009623 Nijmegen breakage syndrome skos:exactMatch NANDO:1200332 Nijmegen breakage syndrome semapv:MappingInversion -MONDO:0008876 Bloom syndrome skos:exactMatch NANDO:1200333 Bloom syndrome semapv:MappingInversion -MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome skos:exactMatch NANDO:1200334 ICF syndrome semapv:MappingInversion -MONDO:0012764 RIDDLE syndrome skos:exactMatch NANDO:1200336 RIDDLE syndrome semapv:MappingInversion -MONDO:0009458 Schimke immuno-osseous dysplasia skos:exactMatch NANDO:1200337 Schimke syndrome semapv:MappingInversion -MONDO:0009735 Netherton syndrome skos:exactMatch NANDO:1200338 Netherton syndrome semapv:MappingInversion -MONDO:0008564 DiGeorge syndrome skos:exactMatch NANDO:1200339 Thymus hypoplasia semapv:MappingInversion -MONDO:0008644 velocardiofacial syndrome skos:exactMatch NANDO:1200339 Thymus hypoplasia semapv:MappingInversion -MONDO:0018923 22q11.2 deletion syndrome skos:exactMatch NANDO:1200339 Thymus hypoplasia semapv:MappingInversion -MONDO:0018037 hyper-IgE syndrome skos:exactMatch NANDO:1200340 Hyper-IgE syndrome semapv:MappingInversion -MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome skos:exactMatch NANDO:1200341 Hepatic veno-occlusive disease with immunodeficiency semapv:MappingInversion -MONDO:0015780 dyskeratosis congenita skos:exactMatch NANDO:1200342 Dyskeratosis congenita semapv:MappingInversion -MONDO:0010421 Bruton-type agammaglobulinemia skos:exactMatch NANDO:1200343 X-linked agammaglobulinemia semapv:MappingInversion -MONDO:0015517 common variable immunodeficiency skos:exactMatch NANDO:1200344 Common variable immunodeficiency semapv:MappingInversion -MONDO:0003947 hyper-IgM syndrome skos:exactMatch NANDO:1200345 Hyper-IgM syndrome semapv:MappingInversion -MONDO:0045045 selective IgG immunodeficiency skos:exactMatch NANDO:1200346 IgG subclass deficiency semapv:MappingInversion -MONDO:0001341 selective IgA deficiency disease skos:exactMatch NANDO:1200347 Selective IgA deficiency semapv:MappingInversion -MONDO:0015711 obsolete specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells skos:exactMatch NANDO:1200348 Specific antibody deficiency with normal Ig concentrations and normal numbers of B cells semapv:MappingInversion -MONDO:0015698 transient hypogammaglobulinemia of infancy skos:exactMatch NANDO:1200349 Transient hypogammaglobulinemia of infancy with normal numbers of B cells semapv:MappingInversion -MONDO:0008963 Chediak-Higashi syndrome skos:exactMatch NANDO:1200350 Chédiak-Higashi syndrome semapv:MappingInversion -MONDO:0010627 X-linked lymphoproliferative syndrome skos:exactMatch NANDO:1200351 X-linked lymphoproliferative syndrome semapv:MappingInversion -MONDO:0017979 autoimmune lymphoproliferative syndrome skos:exactMatch NANDO:1200352 Autoimmune lymphoproliferative syndrome semapv:MappingInversion -MONDO:0018542 severe congenital neutropenia skos:exactMatch NANDO:1200353 Severe congenital neutropenia semapv:MappingInversion -MONDO:0008090 cyclic hematopoiesis skos:exactMatch NANDO:1200354 Cyclic neutropenia semapv:MappingInversion -MONDO:0017570 leukocyte adhesion deficiency skos:exactMatch NANDO:1200355 Leukocyte adhesion deficiency semapv:MappingInversion -MONDO:0009833 Shwachman-Diamond syndrome skos:exactMatch NANDO:1200356 Shwachman-Diamond syndrome semapv:MappingInversion -MONDO:0018305 chronic granulomatous disease skos:exactMatch NANDO:1200357 Chronic granulomatous disease semapv:MappingInversion -MONDO:0009694 myeloperoxidase deficiency skos:exactMatch NANDO:1200358 Myeloperoxidase deficiency semapv:MappingInversion -MONDO:0019146 inherited susceptibility to mycobacterial diseases skos:exactMatch NANDO:1200359 Mendelian susceptibility to mycobacterial disease semapv:MappingInversion -MONDO:0010293 ectodermal dysplasia and immune deficiency skos:exactMatch NANDO:1200360 Anhidrotic ectodermal dysplasia with immunodeficiency semapv:MappingInversion -MONDO:0011888 immunodeficiency 67 skos:exactMatch NANDO:1200361 IRAK4 deficiency semapv:MappingInversion -MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency skos:exactMatch NANDO:1200362 MyD88 deficiency semapv:MappingInversion -MONDO:0015279 chronic mucocutaneous candidiasis skos:exactMatch NANDO:1200363 Chronic mucocutaneous candidiasis semapv:MappingInversion -MONDO:0003832 complement deficiency skos:exactMatch NANDO:1200364 Inherited deficiency of complement system semapv:MappingInversion -MONDO:0007361 C1 inhibitor deficiency skos:exactMatch NANDO:1200365 Hereditary angioedema semapv:MappingInversion -MONDO:0019623 hereditary angioedema skos:exactMatch NANDO:1200365 Hereditary angioedema semapv:MappingInversion -MONDO:0005342 IgA glomerulonephritis skos:exactMatch NANDO:1200366 IgA nephropathy semapv:MappingInversion -MONDO:0020642 polycystic kidney disease skos:exactMatch NANDO:1200367 Polycystic kidney disease semapv:MappingInversion -MONDO:0004691 autosomal dominant polycystic kidney disease skos:exactMatch NANDO:1200368 Autosomal dominant polycystic kidney disease semapv:MappingInversion -MONDO:0009889 autosomal recessive polycystic kidney disease skos:exactMatch NANDO:1200369 Autosomal recessive polycystic kidney disease semapv:MappingInversion -MONDO:0011230 ossification of the posterior longitudinal ligament of the spine skos:exactMatch NANDO:1200371 Ossification of posterior longitudinal ligament semapv:MappingInversion -MONDO:0005965 spinal stenosis skos:exactMatch NANDO:1200372 Coexisting cervical and lumbar spinal stenosis semapv:MappingInversion -MONDO:0012126 familial avascular necrosis of femoral head skos:exactMatch NANDO:1200373 Idiopathic osteonecrosis of femoral head semapv:MappingInversion -MONDO:0015790 central diabetes insipidus skos:exactMatch NANDO:1200375 Central diabetes insipidus semapv:MappingInversion -MONDO:0006802 inappropriate ADH syndrome skos:exactMatch NANDO:1200376 Syndrome of inappropriate secretion of antidiuretic hormone semapv:MappingInversion -MONDO:0019611 TSH-secreting pituitary adenoma skos:exactMatch NANDO:1200377 Diencephalo-hypophysial insufficiency-inappropriate thyroid stimulating hormone syndrome semapv:MappingInversion -MONDO:0010911 prolactin-producing pituitary gland adenoma skos:exactMatch NANDO:1200378 Diencephalo-hypophysial insufficiency-inappropriate prolactin syndrome semapv:MappingInversion -MONDO:0009050 Cushing disease due to pituitary adenoma skos:exactMatch NANDO:1200379 Cushing disease semapv:MappingInversion -MONDO:0019165 central precocious puberty skos:exactMatch NANDO:1200381 Central precocious puberty semapv:MappingInversion -MONDO:0007794 hypogonadotropic hypogonadism 7 with or without anosmia skos:exactMatch NANDO:1200382 Idiopathic hypogonadotropic hypogonadism semapv:MappingInversion -MONDO:0015770 congenital hypogonadotropic hypogonadism skos:exactMatch NANDO:1200383 Congenital hypogonadotropic hypogonadism semapv:MappingInversion -MONDO:0006238 growth hormone-producing pituitary gland adenoma skos:exactMatch NANDO:1200385 Growth hormone secreting pituitary adenoma semapv:MappingInversion -MONDO:0006238 growth hormone-producing pituitary gland adenoma skos:exactMatch NANDO:1200386 Diencephalo-hypophysial dysfunction-syndrome of abnormal secretion of growth hormone semapv:MappingInversion -MONDO:0005152 hypopituitarism skos:exactMatch NANDO:1200387 Hypopituitarism syndrome semapv:MappingInversion -MONDO:0018555 hypogonadotropic hypogonadism skos:exactMatch NANDO:1200388 Hypogonadotropic hypogonadism semapv:MappingInversion -MONDO:0016410 central congenital hypothyroidism skos:exactMatch NANDO:1200390 Thyroid-stimulating hormone deficiency semapv:MappingInversion -MONDO:0018328 homozygous familial hypercholesterolemia skos:exactMatch NANDO:1200394 Homozygous familial hypercholesterolemia semapv:MappingInversion -MONDO:0001328 thyroid hormone resistance syndrome skos:exactMatch NANDO:1200395 Resistance to thyroid hormone semapv:MappingInversion -MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive skos:exactMatch NANDO:1200395 Resistance to thyroid hormone semapv:MappingInversion -MONDO:0018479 congenital adrenal hyperplasia skos:exactMatch NANDO:1200396 Congenital adrenal enzyme deficiency semapv:MappingInversion -MONDO:0018479 congenital adrenal hyperplasia skos:exactMatch NANDO:1200397 Congenital lipoid adrenal hyperplasia semapv:MappingInversion -MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:exactMatch NANDO:1200398 3-β-Hydroxysteroid dehydrogenase deficiency semapv:MappingInversion -MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:exactMatch NANDO:1200399 21-Hydroxylase deficiency semapv:MappingInversion -MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:exactMatch NANDO:1200400 11-β-Hydroxylase deficiency semapv:MappingInversion -MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:exactMatch NANDO:1200401 17-α-Hydroxylase deficiency semapv:MappingInversion -MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency skos:exactMatch NANDO:1200402 P450 oxidoreductase deficiency semapv:MappingInversion -MONDO:0010264 X-linked adrenal hypoplasia congenita skos:exactMatch NANDO:1200403 Congenital adrenal hypoplasia semapv:MappingInversion -MONDO:0016241 alternating hemiplegia of childhood skos:exactMatch NANDO:1200403 Congenital adrenal hypoplasia semapv:MappingInversion -MONDO:0010226 46,XY sex reversal 2 skos:exactMatch NANDO:1200404 DAX1 abnormality semapv:MappingInversion -MONDO:0013066 46,XY sex reversal 3 skos:exactMatch NANDO:1200405 SF-1 abnormality semapv:MappingInversion -MONDO:0013873 IMAGe syndrome skos:exactMatch NANDO:1200406 IMAge syndrome semapv:MappingInversion -MONDO:0024536 glucocorticoid deficiency 1 skos:exactMatch NANDO:1200408 MC2R deficiency semapv:MappingInversion -MONDO:0011826 glucocorticoid deficiency 2 skos:exactMatch NANDO:1200409 MRAP deficiency semapv:MappingInversion -MONDO:0009279 triple-A syndrome skos:exactMatch NANDO:1200410 Allgrove syndrome semapv:MappingInversion -MONDO:0009410 obsolete Addison disease skos:exactMatch NANDO:1200411 Addison's disease semapv:MappingInversion -MONDO:0015129 chronic primary adrenal insufficiency skos:exactMatch NANDO:1200411 Addison's disease semapv:MappingInversion -MONDO:0009410 obsolete Addison disease skos:exactMatch NANDO:1200412 Autoimmune Addison's disease semapv:MappingInversion -MONDO:0019338 sarcoidosis skos:exactMatch NANDO:1200415 Sarcoidosis semapv:MappingInversion -MONDO:0002429 idiopathic interstitial pneumonia skos:exactMatch NANDO:1200416 Idiopathic interstitial pneumonia semapv:MappingInversion -MONDO:0008345 obsolete idiopathic pulmonary fibrosis skos:exactMatch NANDO:1200417 Idiopathic pulmonary fibrosis semapv:MappingInversion -MONDO:0019622 non-specific interstitial pneumonia skos:exactMatch NANDO:1200419 Non-specific interstitial pneumonia semapv:MappingInversion -MONDO:0019203 acute interstitial pneumonia skos:exactMatch NANDO:1200420 Acute interstitial pneumonia semapv:MappingInversion -MONDO:0015264 cryptogenic organizing pneumonia skos:exactMatch NANDO:1200421 Cryptogenic organizing pneumonia semapv:MappingInversion -MONDO:0009887 desquamative interstitial pneumonia skos:exactMatch NANDO:1200422 Desquamative interstitial pneumonia semapv:MappingInversion -MONDO:0009887 desquamative interstitial pneumonia skos:exactMatch NANDO:1200423 Respiratory bronchiolitis-associated interstitial lung disease semapv:MappingInversion -MONDO:0009537 lymphoid interstitial pneumonia skos:exactMatch NANDO:1200424 Lymphoid interstitial pneumonia semapv:MappingInversion -MONDO:0015924 pulmonary arterial hypertension skos:exactMatch NANDO:1200425 Pulmonary arterial hypertension semapv:MappingInversion -MONDO:0018554 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis skos:exactMatch NANDO:1200426 Pulmonary veno-occlusive disease / pulmonary capillary hemangiomatosis semapv:MappingInversion -MONDO:0009937 pulmonary venoocclusive disease skos:exactMatch NANDO:1200427 Pulmonary veno-occlusive disease semapv:MappingInversion -MONDO:0018554 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis skos:exactMatch NANDO:1200428 Pulmonary capillary hemangiomatosis semapv:MappingInversion -MONDO:0013024 chronic thromboembolic pulmonary hypertension skos:exactMatch NANDO:1200429 Chronic thromboembolic pulmonary hypertension semapv:MappingInversion -MONDO:0011705 lymphangioleiomyomatosis skos:exactMatch NANDO:1200430 Lymphangioleiomyomatosis semapv:MappingInversion -MONDO:0019200 retinitis pigmentosa skos:exactMatch NANDO:1200431 Retinitis pigmentosa semapv:MappingInversion -MONDO:0010947 Budd-Chiari syndrome skos:exactMatch NANDO:1200437 Budd-Chiari syndrome semapv:MappingInversion -MONDO:0021969 Banti syndrome skos:exactMatch NANDO:1200438 Idiopathic portal hypertension semapv:MappingInversion -MONDO:0005388 primary biliary cholangitis skos:exactMatch NANDO:1200439 Primary biliary cholangitis semapv:MappingInversion -MONDO:0013433 primary sclerosing cholangitis skos:exactMatch NANDO:1200440 Primary sclerosing cholangitis semapv:MappingInversion -MONDO:0018646 sclerosing cholangitis skos:exactMatch NANDO:1200440 Primary sclerosing cholangitis semapv:MappingInversion -MONDO:0016264 autoimmune hepatitis skos:exactMatch NANDO:1200441 Autoimmune hepatitis semapv:MappingInversion -MONDO:0016264 autoimmune hepatitis skos:exactMatch NANDO:1200442 Typical autoimmune hepatitis semapv:MappingInversion -MONDO:0005011 Crohn disease skos:exactMatch NANDO:1200444 Crohn's disease semapv:MappingInversion -MONDO:0005539 small bowel Crohn disease skos:exactMatch NANDO:1200445 small bowel Crohn disease semapv:MappingInversion -MONDO:0005011 Crohn disease skos:exactMatch NANDO:1200446 Colonic Crohn's disease semapv:MappingInversion -MONDO:0005532 Crohn's colitis skos:exactMatch NANDO:1200446 Colonic Crohn's disease semapv:MappingInversion -MONDO:0005534 ileocolitis skos:exactMatch NANDO:1200447 Crohn ileocolitis semapv:MappingInversion -MONDO:0005101 ulcerative colitis skos:exactMatch NANDO:1200449 Ulcerative colitis semapv:MappingInversion -MONDO:0005536 pancolitis skos:exactMatch NANDO:1200450 Pan-ulcerative colitis semapv:MappingInversion -MONDO:0005533 distal colitis skos:exactMatch NANDO:1200451 Left-sided colitis semapv:MappingInversion -MONDO:0018438 eosinophilic gastrointestinal disease skos:exactMatch NANDO:1200454 Eosinophilic gastrointestinal disorders semapv:MappingInversion -MONDO:0005361 eosinophilic esophagitis skos:exactMatch NANDO:1200456 Eosinophilic esophagitis semapv:MappingInversion -MONDO:0016129 eosinophilic gastroenteritis skos:exactMatch NANDO:1200457 Eosinophilic gastroenteritis semapv:MappingInversion -MONDO:0017574 chronic intestinal pseudoobstruction skos:exactMatch NANDO:1200458 Chronic idiopathic intestinal pseudo-obstruction semapv:MappingInversion -MONDO:0007960 obsolete megacystis-microcolon-intestinal hypoperistalsis syndrome skos:exactMatch NANDO:1200459 Megacystis-microcolon-intestinal hypoperistalsis syndrome semapv:MappingInversion -MONDO:0008738 aganglionosis, total intestinal skos:exactMatch NANDO:1200460 Congenital isolated hypoganglionosis semapv:MappingInversion -MONDO:0019188 Rubinstein-Taybi syndrome skos:exactMatch NANDO:1200461 Rubinstein-Taybi syndrome semapv:MappingInversion -MONDO:0015280 cardiofaciocutaneous syndrome skos:exactMatch NANDO:1200462 CFC Syndrome semapv:MappingInversion -MONDO:0009026 Costello syndrome skos:exactMatch NANDO:1200463 Costello syndrome semapv:MappingInversion -MONDO:0008965 CHARGE syndrome skos:exactMatch NANDO:1200464 CHARGE syndrome semapv:MappingInversion -MONDO:0016168 cryopyrin-associated periodic syndrome skos:exactMatch NANDO:1200465 Cryopyrin-associated periodic syndrome semapv:MappingInversion -MONDO:0018768 familial cold autoinflammatory syndrome skos:exactMatch NANDO:1200466 Familial cold autoinflammatorysyndrome semapv:MappingInversion -MONDO:0008633 Muckle-Wells syndrome skos:exactMatch NANDO:1200467 Muckle-Wells syndrome semapv:MappingInversion -MONDO:0011776 CINCA syndrome skos:exactMatch NANDO:1200468 Chronic infantile neurological cutaneous articular syndrome semapv:MappingInversion -MONDO:0011429 juvenile idiopathic arthritis skos:exactMatch NANDO:1200469 Juvenile idiopathic arthritis semapv:MappingInversion -MONDO:0019434 systemic-onset juvenile idiopathic arthritis skos:exactMatch NANDO:1200470 Systemic juvenile idiopathic arthritis semapv:MappingInversion -MONDO:0019433 oligoarticular juvenile idiopathic arthritis skos:exactMatch NANDO:1200471 Articular-type juvenile idiopathic arthritis semapv:MappingInversion -MONDO:0007727 autosomal dominant familial periodic fever skos:exactMatch NANDO:1200472 TNF receptor-associated periodic fever syndrome semapv:MappingInversion -MONDO:0016244 atypical hemolytic-uremic syndrome skos:exactMatch NANDO:1200473 Atypical hemolytic uremic syndrome semapv:MappingInversion -MONDO:0016244 atypical hemolytic-uremic syndrome skos:exactMatch NANDO:1200474 Congenital atypical hemolytic uremic syndrome semapv:MappingInversion -MONDO:0008523 Blau syndrome skos:exactMatch NANDO:1200476 Blau syndrome semapv:MappingInversion -MONDO:0019952 congenital myopathy skos:exactMatch NANDO:1200477 Congenital myopathy semapv:MappingInversion -MONDO:0018958 nemaline myopathy skos:exactMatch NANDO:1200478 Nemaline myopathy semapv:MappingInversion -MONDO:0007294 central core myopathy skos:exactMatch NANDO:1200479 Central core disease semapv:MappingInversion -MONDO:0018948 multiminicore myopathy skos:exactMatch NANDO:1200480 Minicore myopathy semapv:MappingInversion -MONDO:0018947 centronuclear myopathy skos:exactMatch NANDO:1200481 Myotubular myopathy semapv:MappingInversion -MONDO:0002921 congenital structural myopathy skos:exactMatch NANDO:1200482 Centronuclear myopathy semapv:MappingInversion -MONDO:0018947 centronuclear myopathy skos:exactMatch NANDO:1200482 Centronuclear myopathy semapv:MappingInversion -MONDO:0009711 congenital fiber-type disproportion myopathy skos:exactMatch NANDO:1200483 Congenital fiber-type disproportion myopathy semapv:MappingInversion -MONDO:0009567 Marinesco-Sjogren syndrome skos:exactMatch NANDO:1200485 Marinesco-Sjogren syndrome semapv:MappingInversion -MONDO:0020121 muscular dystrophy skos:exactMatch NANDO:1200486 Muscular dystrophy semapv:MappingInversion -MONDO:0016147 qualitative or quantitative defects of dystrophin skos:exactMatch NANDO:1200487 Dystrophinopathies semapv:MappingInversion -MONDO:0010679 Duchenne muscular dystrophy skos:exactMatch NANDO:1200488 Duchenne muscular dystrophy semapv:MappingInversion -MONDO:0010311 Becker muscular dystrophy skos:exactMatch NANDO:1200489 Becker muscular dystrophy semapv:MappingInversion -MONDO:0016971 limb-girdle muscular dystrophy skos:exactMatch NANDO:1200490 Limb-girdle muscular dystrophy semapv:MappingInversion -MONDO:0001347 facioscapulohumeral muscular dystrophy skos:exactMatch NANDO:1200491 Facioscapulohumeral muscular dystrophy semapv:MappingInversion -MONDO:0016830 Emery-Dreifuss muscular dystrophy skos:exactMatch NANDO:1200492 Emery-Dreifuss muscular dystrophy semapv:MappingInversion -MONDO:0008116 oculopharyngeal muscular dystrophy skos:exactMatch NANDO:1200493 Oculopharyngeal muscular dystrophy semapv:MappingInversion -MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 skos:exactMatch NANDO:1200494 Fukuyama type congenital muscular dystrophy semapv:MappingInversion -MONDO:0016107 myotonic dystrophy skos:exactMatch NANDO:1200495 Myotonic dystrophy semapv:MappingInversion -MONDO:0016110 obsolete non-dystrophic myopathy skos:exactMatch NANDO:1200496 Non-dystrophic myotonia semapv:MappingInversion -MONDO:0009710 Thomsen and Becker disease skos:exactMatch NANDO:1200497 Myotonia congenita semapv:MappingInversion -MONDO:0009710 Thomsen and Becker disease skos:exactMatch NANDO:1200498 Thomsen disease semapv:MappingInversion -MONDO:0009715 myotonia congenita, autosomal recessive skos:exactMatch NANDO:1200499 Becker disease semapv:MappingInversion -MONDO:0018959 potassium-aggravated myotonia skos:exactMatch NANDO:1200500 Sodium channel myotonia semapv:MappingInversion -MONDO:0008195 paramyotonia congenita of Von Eulenburg skos:exactMatch NANDO:1200501 Paramyotonia congenita semapv:MappingInversion -MONDO:0000995 familial periodic paralysis skos:exactMatch NANDO:1200502 Hereditary periodic paralysis semapv:MappingInversion -MONDO:0008223 hypokalemic periodic paralysis skos:exactMatch NANDO:1200503 Hereditary hypokalemic periodic paralysis semapv:MappingInversion -MONDO:0008224 hyperkalemic periodic paralysis skos:exactMatch NANDO:1200504 Hereditary hyperkalemic periodic paralysis semapv:MappingInversion -MONDO:0017987 syringomyelia skos:exactMatch NANDO:1200506 Syringomyelia semapv:MappingInversion -MONDO:0017987 syringomyelia skos:exactMatch NANDO:1200507 Symptomatic syringomyelia semapv:MappingInversion -MONDO:0017069 spina bifida cystica skos:exactMatch NANDO:1200509 Myelomeningocele semapv:MappingInversion -MONDO:0019773 myelomeningocele skos:exactMatch NANDO:1200509 Myelomeningocele semapv:MappingInversion -MONDO:0019399 Isaac syndrome skos:exactMatch NANDO:1200510 Isaacs syndrome semapv:MappingInversion -MONDO:0044807 inherited dystonia skos:exactMatch NANDO:1200511 Hereditary dystonia semapv:MappingInversion -MONDO:0007492 early-onset generalized limb-onset dystonia skos:exactMatch NANDO:1200512 Dystonia 1 semapv:MappingInversion -MONDO:0044808 obsolete early onset primary dystonia skos:exactMatch NANDO:1200512 Dystonia 1 semapv:MappingInversion -MONDO:0009141 torsion dystonia 2 skos:exactMatch NANDO:1200513 Dystonia 2 semapv:MappingInversion -MONDO:0010747 X-linked dystonia-parkinsonism skos:exactMatch NANDO:1200514 Dystonia 3 semapv:MappingInversion -MONDO:0007493 torsion dystonia 4 skos:exactMatch NANDO:1200515 Dystonia 4 semapv:MappingInversion -MONDO:0007495 dystonia 5 skos:exactMatch NANDO:1200516 Dystonia 5 semapv:MappingInversion -MONDO:0016812 dopa-responsive dystonia skos:exactMatch NANDO:1200516 Dystonia 5 semapv:MappingInversion -MONDO:0011264 torsion dystonia 6 skos:exactMatch NANDO:1200517 Dystonia 6 semapv:MappingInversion -MONDO:0011200 torsion dystonia 7 skos:exactMatch NANDO:1200518 Dystonia 7 semapv:MappingInversion -MONDO:0007326 obsolete paroxysmal nonkinesigenic dyskinesia 1 skos:exactMatch NANDO:1200519 Dystonia 8 semapv:MappingInversion -MONDO:0010983 dystonia 9 skos:exactMatch NANDO:1200520 Dystonia 9 semapv:MappingInversion -MONDO:0007494 obsolete episodic kinesigenic dyskinesia 1 skos:exactMatch NANDO:1200521 Dystonia 10 semapv:MappingInversion -MONDO:0000903 myoclonus-dystonia syndrome skos:exactMatch NANDO:1200522 Dystonia 11 semapv:MappingInversion -MONDO:0007496 dystonia 12 skos:exactMatch NANDO:1200523 Dystonia 12 semapv:MappingInversion -MONDO:0007496 dystonia 12 skos:exactMatch NANDO:1200524 Rapid-onset dystonia-parkinsonism semapv:MappingInversion -MONDO:0016241 alternating hemiplegia of childhood skos:exactMatch NANDO:1200525 Alternating hemiplegia of childhood semapv:MappingInversion -MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome skos:exactMatch NANDO:1200526 Cerebellar ataxia, areflexia, pes cavus, optic atropy, and sensorineural hearing loss semapv:MappingInversion -MONDO:0011886 torsion dystonia 13 skos:exactMatch NANDO:1200527 Dystonia 13 semapv:MappingInversion -MONDO:0011844 myoclonic dystonia 15 skos:exactMatch NANDO:1200528 Dystonia 15 semapv:MappingInversion -MONDO:0012789 dystonia 16 skos:exactMatch NANDO:1200529 Dystonia 16 semapv:MappingInversion -MONDO:0012895 torsion dystonia 17 skos:exactMatch NANDO:1200530 Dystonia 17 semapv:MappingInversion -MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 skos:exactMatch NANDO:1200531 Dystonia 18 semapv:MappingInversion -MONDO:0012603 episodic kinesigenic dyskinesia 2 skos:exactMatch NANDO:1200532 Dystonia 19 semapv:MappingInversion -MONDO:0012629 paroxysmal nonkinesigenic dyskinesia 2 skos:exactMatch NANDO:1200533 Dystonia 20 semapv:MappingInversion -MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:exactMatch NANDO:1200534 Neurodegeneration with brain iron accumulation type 1 semapv:MappingInversion -MONDO:0016304 classic pantothenate kinase-associated neurodegeneration skos:exactMatch NANDO:1200535 Classic pantothenate kinase-associated neurodegeneration semapv:MappingInversion -MONDO:0016305 atypical pantothenate kinase-associated neurodegeneration skos:exactMatch NANDO:1200536 Atypical pantothenate kinase-associated neurodegeneration semapv:MappingInversion -MONDO:0024457 neurodegeneration with brain iron accumulation 2A skos:exactMatch NANDO:1200537 Neurodegeneration with brain iron accumulation type 2A semapv:MappingInversion -MONDO:0012444 neurodegeneration with brain iron accumulation 2B skos:exactMatch NANDO:1200538 Neurodegeneration with brain iron accumulation type 2B semapv:MappingInversion -MONDO:0011638 neuroferritinopathy skos:exactMatch NANDO:1200539 Neurodegeneration with brain iron accumulation type 3 semapv:MappingInversion -MONDO:0011426 aceruloplasminemia skos:exactMatch NANDO:1200540 Neurodegeneration with brain iron accumulation type 4 semapv:MappingInversion -MONDO:0013674 neurodegeneration with brain iron accumulation 4 skos:exactMatch NANDO:1200540 Neurodegeneration with brain iron accumulation type 4 semapv:MappingInversion -MONDO:0012866 hereditary spastic paraplegia 35 skos:exactMatch NANDO:1200541 Fatty acid hydroxylase-associated neurodegeneration semapv:MappingInversion -MONDO:0017999 fatty acid hydroxylase-associated neurodegeneration skos:exactMatch NANDO:1200541 Fatty acid hydroxylase-associated neurodegeneration semapv:MappingInversion -MONDO:0011638 neuroferritinopathy skos:exactMatch NANDO:1200542 Neuroferritinopathy semapv:MappingInversion -MONDO:0016594 superficial siderosis skos:exactMatch NANDO:1200543 Superficial siderosis semapv:MappingInversion -MONDO:0010829 CARASIL syndrome skos:exactMatch NANDO:1200544 Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy semapv:MappingInversion -MONDO:0007432 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy skos:exactMatch NANDO:1200545 Cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy semapv:MappingInversion -MONDO:0009096 obsolete hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia skos:exactMatch NANDO:1200546 Hereditary diffuse leukoencephalopathy with spheroid semapv:MappingInversion -MONDO:0008201 Perry syndrome skos:exactMatch NANDO:1200547 Perry syndrome semapv:MappingInversion -MONDO:0017276 frontotemporal dementia skos:exactMatch NANDO:1200548 Frontotemporal lobar degeneration semapv:MappingInversion -MONDO:0017160 behavioral variant of frontotemporal dementia skos:exactMatch NANDO:1200549 Behavioral variant frontotemporal dementia semapv:MappingInversion -MONDO:0010857 semantic dementia skos:exactMatch NANDO:1200550 Semantic dementia semapv:MappingInversion -MONDO:0019208 Bickerstaff brainstem encephalitis skos:exactMatch NANDO:1200551 Bickerstaff's brainstem encephalitis semapv:MappingInversion -MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion skos:exactMatch NANDO:1200552 Acute encephalopathy with biphasic seizures and late reduced diffusion semapv:MappingInversion -MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 skos:exactMatch NANDO:1200553 Congenital insensitivity to pain with anhidrosis semapv:MappingInversion -MONDO:0008752 Alexander disease skos:exactMatch NANDO:1200554 Alexander disease semapv:MappingInversion -MONDO:0018209 Alexander disease type I skos:exactMatch NANDO:1200555 Alexander disease type I semapv:MappingInversion -MONDO:0018210 Alexander disease type II skos:exactMatch NANDO:1200556 Alexander disease type II semapv:MappingInversion -MONDO:0008503 Worster-Drought syndrome skos:exactMatch NANDO:1200558 Congenital suprabulbar paresis semapv:MappingInversion -MONDO:0008006 Mobius syndrome skos:exactMatch NANDO:1200559 Moebius syndrome semapv:MappingInversion -MONDO:0008428 septooptic dysplasia skos:exactMatch NANDO:1200560 Septo-optic dysplasia / De Morsier syndrome semapv:MappingInversion -MONDO:0008428 septooptic dysplasia skos:exactMatch NANDO:1200561 Septo-optic dysplasia semapv:MappingInversion -MONDO:0019029 segmental odontomaxillary dysplasia skos:exactMatch NANDO:1200561 Septo-optic dysplasia semapv:MappingInversion -MONDO:0010568 Aicardi syndrome skos:exactMatch NANDO:1200562 Aicardi syndrome semapv:MappingInversion -MONDO:0020492 hemimegalencephaly skos:exactMatch NANDO:1200563 Hemimegalencephaly semapv:MappingInversion -MONDO:0019009 isolated focal cortical dysplasia skos:exactMatch NANDO:1200564 Focal cortical dysplasia semapv:MappingInversion -MONDO:0017096 isolated focal cortical dysplasia type Ia skos:exactMatch NANDO:1200565 Focal cortical dysplasia type 1a semapv:MappingInversion -MONDO:0017097 isolated focal cortical dysplasia type Ib skos:exactMatch NANDO:1200566 Focal cortical dysplasia type 1b semapv:MappingInversion -MONDO:0017098 isolated focal cortical dysplasia type Ic skos:exactMatch NANDO:1200567 Focal cortical dysplasia type 1c semapv:MappingInversion -MONDO:0017101 isolated focal cortical dysplasia type IIa skos:exactMatch NANDO:1200568 Focal cortical dysplasia type 2a semapv:MappingInversion -MONDO:0017102 isolated focal cortical dysplasia type IIb skos:exactMatch NANDO:1200569 Focal cortical dysplasia type 2b semapv:MappingInversion -MONDO:0018838 lissencephaly spectrum disorders skos:exactMatch NANDO:1200574 Neuronal migration defects semapv:MappingInversion -MONDO:0019046 leukodystrophy skos:exactMatch NANDO:1200575 Congenital hypomyelinating leukodystrophy semapv:MappingInversion -MONDO:0010714 Pelizaeus-Merzbacher disease skos:exactMatch NANDO:1200576 Pelizaeus-Merzbacher disease semapv:MappingInversion -MONDO:0017226 Pelizaeus-Merzbacher-like disease skos:exactMatch NANDO:1200577 Pelizaeus-Merzbacher like disease semapv:MappingInversion -MONDO:0012905 hypomyelinating leukodystrophy 6 skos:exactMatch NANDO:1200578 Hypomyelination with atrophy of the basal ganglia and cerebellum semapv:MappingInversion -MONDO:0011147 chromosome 18q deletion syndrome skos:exactMatch NANDO:1200579 18q-syndrome semapv:MappingInversion -MONDO:0010354 Allan-Herndon-Dudley syndrome skos:exactMatch NANDO:1200580 Allan-Herndon-Dudley syndrome semapv:MappingInversion -MONDO:0012824 hypomyelinating leukodystrophy 4 skos:exactMatch NANDO:1200581 Mitochondrial Hsp60 chaperonopathy semapv:MappingInversion -MONDO:0011449 Salla disease skos:exactMatch NANDO:1200582 Salla disease semapv:MappingInversion -MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome skos:exactMatch NANDO:1200583 Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum semapv:MappingInversion -MONDO:0012514 hypomyelinating leukodystrophy 5 skos:exactMatch NANDO:1200584 Hypomyelination and congenital cataract semapv:MappingInversion -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:exactMatch NANDO:1200585 Ataxia, delayed dentition, and hypomyelination syndrome semapv:MappingInversion -MONDO:0012198 PCWH syndrome skos:exactMatch NANDO:1200586 Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease semapv:MappingInversion -MONDO:0100135 Dravet syndrome skos:exactMatch NANDO:1200587 Dravet syndrome semapv:MappingInversion -MONDO:0020476 mesial temporal lobe epilepsy with hippocampal sclerosis skos:exactMatch NANDO:1200588 Mesial temporal lobe epilepsy with bilateral hippocampal sclerosis semapv:MappingInversion -MONDO:0019487 epilepsy with myoclonic absences skos:exactMatch NANDO:1200589 Myoclonic absence epilepsy semapv:MappingInversion -MONDO:0016025 myoclonic-astatic epilepsy skos:exactMatch NANDO:1200590 Epilepsy with myoclonic atonic seizures semapv:MappingInversion -MONDO:0016532 Lennox-Gastaut syndrome skos:exactMatch NANDO:1200591 Lennox-Gastaut syndrome semapv:MappingInversion -MONDO:0018097 West syndrome skos:exactMatch NANDO:1200592 West syndrome semapv:MappingInversion -MONDO:0100062 developmental and epileptic encephalopathy skos:exactMatch NANDO:1200593 Ohtahara syndrome semapv:MappingInversion -MONDO:0016022 early myoclonic encephalopathy skos:exactMatch NANDO:1200594 Early myoclonic encephalopathy semapv:MappingInversion -MONDO:0017385 malignant migrating partial seizures of infancy skos:exactMatch NANDO:1200595 Epilepsy of infancy with migrating focal seizures semapv:MappingInversion -MONDO:0100025 epilepsy of infancy with migrating focal seizures skos:exactMatch NANDO:1200595 Epilepsy of infancy with migrating focal seizures semapv:MappingInversion -MONDO:0019485 idiopathic hemiconvulsion-hemiplegia syndrome skos:exactMatch NANDO:1200596 Hemiconvulsion-hemiplegia-epilepsy syndrome semapv:MappingInversion -MONDO:0015436 ring chromosome 20 skos:exactMatch NANDO:1200597 Ring chromosome 20 syndrome semapv:MappingInversion -MONDO:0016019 Rasmussen subacute encephalitis skos:exactMatch NANDO:1200598 Rasmussen's encephalitis semapv:MappingInversion -MONDO:0010246 developmental and epileptic encephalopathy, 9 skos:exactMatch NANDO:1200599 PCDH19-related syndrome semapv:MappingInversion -MONDO:0015584 febrile infection-related epilepsy syndrome skos:exactMatch NANDO:1200600 Acute encephalitis with refractory, repetitive partial seizures semapv:MappingInversion -MONDO:0019123 continuous spikes and waves during sleep skos:exactMatch NANDO:1200601 Epileptic encephalopathy with continuous spike-and-wave during sleep semapv:MappingInversion -MONDO:0022858 continuous spike-wave during slow sleep syndrome skos:exactMatch NANDO:1200601 Epileptic encephalopathy with continuous spike-and-wave during sleep semapv:MappingInversion -MONDO:0009509 Landau-Kleffner syndrome skos:exactMatch NANDO:1200602 Landau-Kleffner syndrome semapv:MappingInversion -MONDO:0010726 Rett syndrome skos:exactMatch NANDO:1200603 Rett syndrome semapv:MappingInversion -MONDO:0010726 Rett syndrome skos:exactMatch NANDO:1200604 Typical Rett syndrome semapv:MappingInversion -MONDO:0017746 atypical Rett syndrome skos:exactMatch NANDO:1200605 Atypical Rett syndrome semapv:MappingInversion -MONDO:0008501 Sturge-Weber syndrome skos:exactMatch NANDO:1200606 Sturge-Weber syndrome semapv:MappingInversion -MONDO:0001734 tuberous sclerosis skos:exactMatch NANDO:1200607 Tuberous sclerosis complex semapv:MappingInversion -MONDO:0019341 obsolete tuberous sclerosis complex skos:exactMatch NANDO:1200607 Tuberous sclerosis complex semapv:MappingInversion -MONDO:0019600 xeroderma pigmentosum skos:exactMatch NANDO:1200608 Xeroderma pigmentosum semapv:MappingInversion -MONDO:0015947 inherited ichthyosis skos:exactMatch NANDO:1200609 Congenital ichthyosis semapv:MappingInversion -MONDO:0017266 keratinopathic ichthyosis skos:exactMatch NANDO:1200610 Keratinopathic ichthyosis semapv:MappingInversion -MONDO:0020702 autosomal dominant epidermolytic ichthyosis skos:exactMatch NANDO:1200611 Autosomal dominant epidermolytic ichthyosis semapv:MappingInversion -MONDO:0044742 autosomal recessive epidermolytic ichthyosis skos:exactMatch NANDO:1200612 Autosomal recessive epidermolytic ichthyosis semapv:MappingInversion -MONDO:0007813 superficial epidermolytic ichthyosis skos:exactMatch NANDO:1200613 Superficial epidermolytic ichthyosis semapv:MappingInversion -MONDO:0009443 autosomal recessive congenital ichthyosis 4B skos:exactMatch NANDO:1200614 Harlequin ichthyosis semapv:MappingInversion -MONDO:0017265 autosomal recessive congenital ichthyosis skos:exactMatch NANDO:1200615 Autosomal recessive congenital ichthyosis excluding harlequin ichthyosis semapv:MappingInversion -MONDO:0019306 congenital non-bullous ichthyosiform erythroderma skos:exactMatch NANDO:1200616 Congenital ichthyosiform erythroderma semapv:MappingInversion -MONDO:0017778 lamellar ichthyosis skos:exactMatch NANDO:1200617 Lamellar ichthyosis semapv:MappingInversion -MONDO:0019306 congenital non-bullous ichthyosiform erythroderma skos:exactMatch NANDO:1200617 Lamellar ichthyosis semapv:MappingInversion -MONDO:0019269 ichthyosis skos:exactMatch NANDO:1200618 Ichthyosis syndrome semapv:MappingInversion -MONDO:0009735 Netherton syndrome skos:exactMatch NANDO:1200619 Netherton syndrome semapv:MappingInversion -MONDO:0010031 Sjogren-Larsson syndrome skos:exactMatch NANDO:1200620 Sjögren-Larsson syndrome semapv:MappingInversion -MONDO:0018781 KID syndrome skos:exactMatch NANDO:1200621 Keratitis-ichthyosis-deafness syndrome semapv:MappingInversion -MONDO:0010155 Dorfman-Chanarin disease skos:exactMatch NANDO:1200622 Dorfman-Chanarin syndrome semapv:MappingInversion -MONDO:0015611 neutral lipid storage disease skos:exactMatch NANDO:1200622 Dorfman-Chanarin syndrome semapv:MappingInversion -MONDO:0010155 Dorfman-Chanarin disease skos:exactMatch NANDO:1200623 Neutral lipid storage disease with ichthyosis semapv:MappingInversion -MONDO:0010088 mucosulfatidosis skos:exactMatch NANDO:1200624 Multiple sulfatase deficiency semapv:MappingInversion -MONDO:0010622 recessive X-linked ichthyosis skos:exactMatch NANDO:1200625 Recessive X-linked ichtyosis semapv:MappingInversion -MONDO:0002470 photosensitive trichothiodystrophy skos:exactMatch NANDO:1200626 Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature semapv:MappingInversion -MONDO:0018053 trichothiodystrophy skos:exactMatch NANDO:1200627 Trichothiodystrophy semapv:MappingInversion -MONDO:0043094 ichthyosis, follicular skos:exactMatch NANDO:1200628 Ichthyosis follicularis semapv:MappingInversion -MONDO:0010621 CHILD syndrome skos:exactMatch NANDO:1200629 CHILD syndrome semapv:MappingInversion -MONDO:0020603 X-linked chondrodysplasia punctata 2 skos:exactMatch NANDO:1200630 Conradi Hünermann Happle syndrome semapv:MappingInversion -MONDO:0008218 Hailey-Hailey disease skos:exactMatch NANDO:1200631 Benign familial pemphigus semapv:MappingInversion -MONDO:0019082 bullous pemphigoid skos:exactMatch NANDO:1200632 Pemphigoid (including Epidermolysis bullosa acquisita) semapv:MappingInversion -MONDO:0019082 bullous pemphigoid skos:exactMatch NANDO:1200633 Bullous pemphigoid semapv:MappingInversion -MONDO:0018746 mucous membrane pemphigoid skos:exactMatch NANDO:1200634 Mucous membrane pemphigoid semapv:MappingInversion -MONDO:0018747 acquired epidermolysis bullosa skos:exactMatch NANDO:1200635 Epidermolysis bullosa acquisita semapv:MappingInversion -MONDO:0018910 oculocutaneous albinism skos:exactMatch NANDO:1200637 Oculocutaneous albinism semapv:MappingInversion -MONDO:0019312 Hermansky-Pudlak syndrome skos:exactMatch NANDO:1200638 Hermansky-Pudlak syndrome semapv:MappingInversion -MONDO:0008963 Chediak-Higashi syndrome skos:exactMatch NANDO:1200639 Chédiak-Higashi syndrome semapv:MappingInversion -MONDO:0018306 Griscelli syndrome skos:exactMatch NANDO:1200640 Griscelli syndrome semapv:MappingInversion -MONDO:0018910 oculocutaneous albinism skos:exactMatch NANDO:1200641 Non-syndromic oculocutaneous albinism semapv:MappingInversion -MONDO:0009799 obsolete pachydermoperiostosis skos:exactMatch NANDO:1200642 Pachydermoperiostosis semapv:MappingInversion -MONDO:0016620 primary hypertrophic osteoarthropathy skos:exactMatch NANDO:1200642 Pachydermoperiostosis semapv:MappingInversion -MONDO:0024308 pseudoxanthoma elasticum (inherited or acquired) skos:exactMatch NANDO:1200643 Pseudoxanthoma elasticum semapv:MappingInversion -MONDO:0007947 Marfan syndrome skos:exactMatch NANDO:1200644 Marfan syndrome semapv:MappingInversion -MONDO:0020066 Ehlers-Danlos syndrome skos:exactMatch NANDO:1200645 Ehlers-Danlos Syndrome semapv:MappingInversion -MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:exactMatch NANDO:1200646 Ehlers-Danlos syndrome, classical type semapv:MappingInversion -MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:exactMatch NANDO:1200647 Ehlers-Danlos syndrome, hypermobility type semapv:MappingInversion -MONDO:0017314 Ehlers-Danlos syndrome, vascular type skos:exactMatch NANDO:1200648 Ehlers-Danlos syndrome, vascular type semapv:MappingInversion -MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:exactMatch NANDO:1200649 Ehlers-Danlos syndrome, kyphoscoliotic type semapv:MappingInversion -MONDO:0034024 kyphoscoliotic Ehlers-Danlos syndrome skos:exactMatch NANDO:1200649 Ehlers-Danlos syndrome, kyphoscoliotic type semapv:MappingInversion -MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:exactMatch NANDO:1200650 Ehlers-Danlos syndrome, arthrochalasis type semapv:MappingInversion -MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type skos:exactMatch NANDO:1200651 Ehlers-Danlos syndrome, dermatosparaxis type semapv:MappingInversion -MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type skos:exactMatch NANDO:1200652 Dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome semapv:MappingInversion -MONDO:0010651 Menkes disease skos:exactMatch NANDO:1200653 Menkes disease semapv:MappingInversion -MONDO:0010572 occipital horn syndrome skos:exactMatch NANDO:1200654 Occipital horn syndrome semapv:MappingInversion -MONDO:0010200 Wilson disease skos:exactMatch NANDO:1200655 Wilson disease semapv:MappingInversion -MONDO:0018570 hypophosphatasia skos:exactMatch NANDO:1200656 Hypophosphatasia semapv:MappingInversion -MONDO:0008642 VACTERL/vater association skos:exactMatch NANDO:1200657 VATER syndrome semapv:MappingInversion -MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly skos:exactMatch NANDO:1200658 Nasu-Hakola disease semapv:MappingInversion -MONDO:0010193 Weaver syndrome skos:exactMatch NANDO:1200659 Weaver syndrome semapv:MappingInversion -MONDO:0010561 Coffin-Lowry syndrome skos:exactMatch NANDO:1200660 Coffin-Lowry syndrome semapv:MappingInversion -MONDO:0015369 Joubert syndrome and related disorders skos:exactMatch NANDO:1200661 Joubert syndrome and related disorders semapv:MappingInversion -MONDO:0009480 Joubert syndrome with oculorenal defect skos:exactMatch NANDO:1200662 Arima syndrome semapv:MappingInversion -MONDO:0009341 Mowat-Wilson syndrome skos:exactMatch NANDO:1200663 Mowat-Wilson syndrome semapv:MappingInversion -MONDO:0008678 Williams syndrome skos:exactMatch NANDO:1200664 Williams syndrome semapv:MappingInversion -MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:exactMatch NANDO:1200665 ATR-X syndrome semapv:MappingInversion -MONDO:0007405 Crouzon syndrome skos:exactMatch NANDO:1200666 Crouzon's syndrome semapv:MappingInversion -MONDO:0007041 Apert syndrome skos:exactMatch NANDO:1200667 Apert syndrome semapv:MappingInversion -MONDO:0005810 infectious mononucleosis skos:exactMatch NANDO:1200668 Pfeiffer syndrome semapv:MappingInversion -MONDO:0007043 Pfeiffer syndrome skos:exactMatch NANDO:1200668 Pfeiffer syndrome semapv:MappingInversion -MONDO:0008803 Antley-Bixler syndrome skos:exactMatch NANDO:1200669 Antley-Bixler syndrome semapv:MappingInversion -MONDO:0015452 Coffin-Siris syndrome skos:exactMatch NANDO:1200670 Coffin-Siris syndrome semapv:MappingInversion -MONDO:0010002 Rothmund-Thomson syndrome skos:exactMatch NANDO:1200671 Rothmund-Thomson syndrome semapv:MappingInversion -MONDO:0016512 Kabuki syndrome skos:exactMatch NANDO:1200672 Kabuki syndrome semapv:MappingInversion -MONDO:0007029 branchio-oto-renal syndrome skos:exactMatch NANDO:1200675 Branchio-oto-renal syndrome semapv:MappingInversion -MONDO:0018878 branchiootic syndrome skos:exactMatch NANDO:1200675 Branchio-oto-renal syndrome semapv:MappingInversion -MONDO:0010196 Werner syndrome skos:exactMatch NANDO:1200676 Werner syndrome semapv:MappingInversion -MONDO:0016006 Cockayne syndrome skos:exactMatch NANDO:1200677 Cockayne syndrome semapv:MappingInversion -MONDO:0008300 Prader-Willi syndrome skos:exactMatch NANDO:1200678 Prader-Willi syndrome semapv:MappingInversion -MONDO:0019349 Sotos syndrome skos:exactMatch NANDO:1200679 Sotos syndrome semapv:MappingInversion -MONDO:0018997 Noonan syndrome skos:exactMatch NANDO:1200680 Noonan syndrome semapv:MappingInversion -MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type skos:exactMatch NANDO:1200681 Young-Simpson syndrome semapv:MappingInversion -MONDO:0011929 chromosome 1p36 deletion syndrome skos:exactMatch NANDO:1200682 1p36 deletion syndrome semapv:MappingInversion -MONDO:0008684 Wolf-Hirschhorn syndrome skos:exactMatch NANDO:1200683 4p deletion syndrome semapv:MappingInversion -MONDO:0007404 Cri-du-chat syndrome skos:exactMatch NANDO:1200684 5p deletion syndrome semapv:MappingInversion -MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:exactMatch NANDO:1200685 Paternal uniparental disomy of chromosome 14 semapv:MappingInversion -MONDO:0007113 Angelman syndrome skos:exactMatch NANDO:1200686 Angelman syndrome semapv:MappingInversion -MONDO:0008434 Smith-Magenis syndrome skos:exactMatch NANDO:1200687 Smith-Magenis syndrome semapv:MappingInversion -MONDO:0008564 DiGeorge syndrome skos:exactMatch NANDO:1200688 22q11.2 deletion syndrome semapv:MappingInversion -MONDO:0008644 velocardiofacial syndrome skos:exactMatch NANDO:1200688 22q11.2 deletion syndrome semapv:MappingInversion -MONDO:0018923 22q11.2 deletion syndrome skos:exactMatch NANDO:1200688 22q11.2 deletion syndrome semapv:MappingInversion -MONDO:0012176 Emanuel syndrome skos:exactMatch NANDO:1200689 Emanuel syndrome semapv:MappingInversion -MONDO:0010382 fragile X-associated tremor/ataxia syndrome skos:exactMatch NANDO:1200690 Fragile X syndrome related diseases semapv:MappingInversion -MONDO:0010382 fragile X-associated tremor/ataxia syndrome skos:exactMatch NANDO:1200691 Fragile X tremor/ataxia syndrome semapv:MappingInversion -MONDO:0010383 fragile X syndrome skos:exactMatch NANDO:1200692 Fragile X syndrome semapv:MappingInversion -MONDO:0018072 persistent truncus arteriosus skos:exactMatch NANDO:1200693 Truncus arteriosus communis semapv:MappingInversion -MONDO:0019443 dextro-looped transposition of the great arteries skos:exactMatch NANDO:1200698 Corrected transposition of great arteries semapv:MappingInversion -MONDO:0016301 congenitally corrected transposition of the great arteries skos:exactMatch NANDO:1200699 Complete transposition of the great arteries semapv:MappingInversion -MONDO:0016301 congenitally corrected transposition of the great arteries skos:exactMatch NANDO:1200701 Complete transposition of the great arteries (Group2) semapv:MappingInversion -MONDO:0016303 congenitally uncorrected transposition of the great arteries with cardiac malformation skos:exactMatch NANDO:1200701 Complete transposition of the great arteries (Group2) semapv:MappingInversion -MONDO:0016301 congenitally corrected transposition of the great arteries skos:exactMatch NANDO:1200703 Complete transposition of the great arteries (Group4) semapv:MappingInversion -MONDO:0020385 congenitally uncorrected transposition of the great arteries with coarctation skos:exactMatch NANDO:1200703 Complete transposition of the great arteries (Group4) semapv:MappingInversion -MONDO:0015451 univentricular heart skos:exactMatch NANDO:1200704 Single ventricle semapv:MappingInversion -MONDO:0004933 hypoplastic left heart syndrome skos:exactMatch NANDO:1200705 Hypoplastic left heart syndrome semapv:MappingInversion -MONDO:0011514 tricuspid atresia skos:exactMatch NANDO:1200706 Tricuspid atresia semapv:MappingInversion -MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome skos:exactMatch NANDO:1200707 Pulmonary atresia with intact ventricular septum semapv:MappingInversion -MONDO:0008343 pulmonary atresia with ventricular septal defect skos:exactMatch NANDO:1200708 Pulmonary atresia with ventricular septal defect semapv:MappingInversion -MONDO:0008542 tetralogy of fallot skos:exactMatch NANDO:1200709 Tetralogy of Fallot semapv:MappingInversion -MONDO:0018089 double outlet right ventricle skos:exactMatch NANDO:1200710 Double outlet right ventricle semapv:MappingInversion -MONDO:0009144 Ebstein anomaly skos:exactMatch NANDO:1200711 Ebstein's anomaly semapv:MappingInversion -MONDO:0018965 Alport syndrome skos:exactMatch NANDO:1200712 Alport's syndrome semapv:MappingInversion -MONDO:0009627 Galloway-Mowat syndrome skos:exactMatch NANDO:1200713 Galloway-Mowat syndrome semapv:MappingInversion -MONDO:0001645 crescentic glomerulonephritis skos:exactMatch NANDO:1200714 Rapidly progressive glomerulonephritis semapv:MappingInversion -MONDO:0017236 rapidly progressive glomerulonephritis skos:exactMatch NANDO:1200714 Rapidly progressive glomerulonephritis semapv:MappingInversion -MONDO:0003136 anti-basement membrane glomerulonephritis skos:exactMatch NANDO:1200717 Anti-GBM rapidly progressive glomerulonephritis semapv:MappingInversion -MONDO:0009303 anti-glomerular basement membrane disease skos:exactMatch NANDO:1200717 Anti-GBM rapidly progressive glomerulonephritis semapv:MappingInversion -MONDO:0009303 anti-glomerular basement membrane disease skos:exactMatch NANDO:1200718 Goodpasture syndrome semapv:MappingInversion -MONDO:0018170 idiopathic nephrotic syndrome skos:exactMatch NANDO:1200719 Primary nephrotic syndrome semapv:MappingInversion -MONDO:0006835 lipoid nephrosis skos:exactMatch NANDO:1200720 Minimal change nephrotic syndrome semapv:MappingInversion -MONDO:0005376 membranous glomerulonephritis skos:exactMatch NANDO:1200721 Membranous nephropathy semapv:MappingInversion -MONDO:0005363 inherited focal segmental glomerulosclerosis skos:exactMatch NANDO:1200722 Focal segmental glomerulosclerosis semapv:MappingInversion -MONDO:0001645 crescentic glomerulonephritis skos:exactMatch NANDO:1200723 Crescentic glomerulonephritis semapv:MappingInversion -MONDO:0017236 rapidly progressive glomerulonephritis skos:exactMatch NANDO:1200723 Crescentic glomerulonephritis semapv:MappingInversion -MONDO:0018904 primary membranoproliferative glomerulonephritis skos:exactMatch NANDO:1200725 Primary membranoproliferative glomerulonephritis semapv:MappingInversion -MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis skos:exactMatch NANDO:1200726 Primary membranoproliferative glomerulonephritis type I semapv:MappingInversion -MONDO:0002461 membranoproliferative glomerulonephritis skos:exactMatch NANDO:1200737 Lobular membranoproliferative glomerulonephritis type I semapv:MappingInversion -MONDO:0019736 dense deposit disease skos:exactMatch NANDO:1200739 Primary membranoproliferative glomerulonephritis type II semapv:MappingInversion -MONDO:0006785 obsolete Henoch-Schoenlein purpura skos:exactMatch NANDO:1200741 Henoch-Schonlein purpura nephritis semapv:MappingInversion -MONDO:0016383 nephrogenic diabetes insipidus skos:exactMatch NANDO:1200742 Congenital nephrogenic diabetes insipidus semapv:MappingInversion -MONDO:0018301 interstitial cystitis skos:exactMatch NANDO:1200743 Interstitial cystitis (Hunner type) semapv:MappingInversion -MONDO:0019180 hereditary hemorrhagic telangiectasia skos:exactMatch NANDO:1200744 Osler disease semapv:MappingInversion -MONDO:0015265 bronchiolitis obliterans syndrome skos:exactMatch NANDO:1200745 Bronchiolitis obliterans semapv:MappingInversion -MONDO:0001437 pulmonary alveolar proteinosis skos:exactMatch NANDO:1200746 Pulmonary alveolar proteinosis semapv:MappingInversion -MONDO:0012580 hereditary pulmonary alveolar proteinosis skos:exactMatch NANDO:1200746 Pulmonary alveolar proteinosis semapv:MappingInversion -MONDO:0012579 autoimmune pulmonary alveolar proteinosis skos:exactMatch NANDO:1200747 Autoimmune pulmonary alveolar proteinosis semapv:MappingInversion -MONDO:0012579 autoimmune pulmonary alveolar proteinosis skos:exactMatch NANDO:1200748 Idiopathic pulmonary alveolar proteinosis semapv:MappingInversion -MONDO:0018483 secondary pulmonary alveolar proteinosis skos:exactMatch NANDO:1200749 Secondary Pulmonary Alveolar Proteinosis semapv:MappingInversion -MONDO:0012580 hereditary pulmonary alveolar proteinosis skos:exactMatch NANDO:1200750 Congenital alveolar proteinosis semapv:MappingInversion -MONDO:0008346 pulmonary hemosiderosis skos:exactMatch NANDO:1200751 Alveolar hypoventilation syndrome semapv:MappingInversion -MONDO:0009763 obesity-hypoventilation syndrome skos:exactMatch NANDO:1200752 Obesity hypoventilation syndrome semapv:MappingInversion -MONDO:0008852 obsolete congenital central hypoventilation syndrome skos:exactMatch NANDO:1200753 Congenital central hypoventilation syndrome semapv:MappingInversion -MONDO:0013282 alpha 1-antitrypsin deficiency skos:exactMatch NANDO:1200755 Alpha-1-antitrypsin deficiency semapv:MappingInversion -MONDO:0015285 Carney complex skos:exactMatch NANDO:1200756 Carney complex semapv:MappingInversion -MONDO:0018105 Wolfram syndrome skos:exactMatch NANDO:1200757 Wolfram syndrome semapv:MappingInversion -MONDO:0019053 peroxisomal disease skos:exactMatch NANDO:1200758 Peroxisomal disorder semapv:MappingInversion -MONDO:0019234 peroxisome biogenesis disorder skos:exactMatch NANDO:1200759 Peroxisome biogenesis disorders semapv:MappingInversion -MONDO:0019609 Zellweger spectrum disorders skos:exactMatch NANDO:1200760 Zellweger syndrome semapv:MappingInversion -MONDO:0018598 obsolete neonatal adrenoleukodystrophy skos:exactMatch NANDO:1200761 Neonatal adrenoleukodystrophy semapv:MappingInversion -MONDO:0019174 obsolete infantile Refsum disease skos:exactMatch NANDO:1200762 Infantile Refsum disease semapv:MappingInversion -MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 skos:exactMatch NANDO:1200763 Rhizomelic chondrodysplasia punctata type 1 semapv:MappingInversion -MONDO:0019233 disorder of peroxisomal beta oxidation skos:exactMatch NANDO:1200764 Peroxisomal beta-oxidation enzyme deficiency semapv:MappingInversion -MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency skos:exactMatch NANDO:1200765 Peroxisomal acyl-CoA oxidase deficiency semapv:MappingInversion -MONDO:0009855 d-bifunctional protein deficiency skos:exactMatch NANDO:1200766 D-bifunctional protein deficiency semapv:MappingInversion -MONDO:0013391 sterol carrier protein 2 deficiency skos:exactMatch NANDO:1200767 Sterol carrier protein 2 deficiency semapv:MappingInversion -MONDO:0013681 alpha-methylacyl-CoA racemase deficiency skos:exactMatch NANDO:1200768 Alpha-methylacyl-CoA racemase deficiency semapv:MappingInversion -MONDO:0009958 adult Refsum disease skos:exactMatch NANDO:1200769 Refsum disease semapv:MappingInversion -MONDO:0017986 disorder of plasmalogens biosynthesis skos:exactMatch NANDO:1200770 Plasmalogen biosynthesis enzyme deficiency semapv:MappingInversion -MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 skos:exactMatch NANDO:1200771 Rhizomelic chondrodysplasia punctata type 2 semapv:MappingInversion -MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 skos:exactMatch NANDO:1200772 Rhizomelic chondrodysplasia punctata type 3 semapv:MappingInversion -MONDO:0009823 primary hyperoxaluria type 1 skos:exactMatch NANDO:1200773 Primary hyperoxaluria type 1 semapv:MappingInversion -MONDO:0013571 acatalasia skos:exactMatch NANDO:1200774 Acatalasemia semapv:MappingInversion -MONDO:0001220 hypoparathyroidism skos:exactMatch NANDO:1200775 Hypoparathyroidism semapv:MappingInversion -MONDO:0015895 obsolete syndrome with hypoparathyroidism skos:exactMatch NANDO:1200775 Hypoparathyroidism semapv:MappingInversion -MONDO:0019992 pseudohypoparathyroidism skos:exactMatch NANDO:1200776 Pseudohypoparathyroidism semapv:MappingInversion -MONDO:0024300 hypophosphatemic rickets skos:exactMatch NANDO:1200778 Vitamin D-resistant rickets/Vitamin D-resistant osteomalacia semapv:MappingInversion -MONDO:0010619 X-linked dominant hypophosphatemic rickets skos:exactMatch NANDO:1200779 Vitamin D-resistant rickets semapv:MappingInversion -MONDO:0010931 vitamin D-dependent rickets, type 2B skos:exactMatch NANDO:1200779 Vitamin D-resistant rickets semapv:MappingInversion -MONDO:0024300 hypophosphatemic rickets skos:exactMatch NANDO:1200780 Vitamin D-resistant osteomalacia semapv:MappingInversion -MONDO:0024299 vitamin D-dependent rickets skos:exactMatch NANDO:1200781 Vitamin D-dependent rickets / Osteomalacia semapv:MappingInversion -MONDO:0009924 vitamin D-dependent rickets, type 1 skos:exactMatch NANDO:1200782 Vitamin D-dependent rickets, type 1 semapv:MappingInversion -MONDO:0019642 vitamin D-dependent rickets, type 2 skos:exactMatch NANDO:1200783 Vitamin D-dependent rickets, type 2 semapv:MappingInversion -MONDO:0009861 phenylketonuria skos:exactMatch NANDO:1200784 Phenylketonuria semapv:MappingInversion -MONDO:0009861 phenylketonuria skos:exactMatch NANDO:1200785 Phenylalanine hydroxylase deficiency semapv:MappingInversion -MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency skos:exactMatch NANDO:1200786 Tetrahydrobiopterin deficiency semapv:MappingInversion -MONDO:0017389 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria skos:exactMatch NANDO:1200787 Tetrahydrobiopterin-responsive hyperphenylalaninemia semapv:MappingInversion -MONDO:0010161 tyrosinemia type I skos:exactMatch NANDO:1200788 Tyrosinemia type 1 semapv:MappingInversion -MONDO:0010160 tyrosinemia type II skos:exactMatch NANDO:1200789 Tyrosinemia type 2 semapv:MappingInversion -MONDO:0010162 tyrosinemia type III skos:exactMatch NANDO:1200790 Tyrosinemia type 3 semapv:MappingInversion -MONDO:0009563 maple syrup urine disease skos:exactMatch NANDO:1200791 Maple syrup urine disease semapv:MappingInversion -MONDO:0011628 propionic acidemia skos:exactMatch NANDO:1200792 Propionic acidemia semapv:MappingInversion -MONDO:0002012 methylmalonic acidemia skos:exactMatch NANDO:1200793 Methylmalonic acidemia semapv:MappingInversion -MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency skos:exactMatch NANDO:1200794 Methylmalonyl-Coenzyme A mutase deficiency semapv:MappingInversion -MONDO:0009613 methylmalonic aciduria, cblA type skos:exactMatch NANDO:1200795 Methylmalonic acidemia cblA type semapv:MappingInversion -MONDO:0009614 methylmalonic aciduria, cblB type skos:exactMatch NANDO:1200796 Methylmalonic acidemia cblB type semapv:MappingInversion -MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:exactMatch NANDO:1200797 Methylmalonic acidemia CblD type semapv:MappingInversion -MONDO:0009475 isovaleric acidemia skos:exactMatch NANDO:1200798 Isovaleric acidemia semapv:MappingInversion -MONDO:0000188 GLUT1 deficiency syndrome skos:exactMatch NANDO:1200799 Glucose transporter 1 deficiency semapv:MappingInversion -MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:exactMatch NANDO:1200799 Glucose transporter 1 deficiency semapv:MappingInversion -MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:exactMatch NANDO:1200800 Glutaric acidemia type 1 semapv:MappingInversion -MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:exactMatch NANDO:1200801 Glutaric acidemia type 2 semapv:MappingInversion -MONDO:0004739 urea cycle disorder skos:exactMatch NANDO:1200802 Urea cycle disorder semapv:MappingInversion -MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease skos:exactMatch NANDO:1200803 Carbamoyl phosphate synthetase I deficiency semapv:MappingInversion -MONDO:0010703 ornithine carbamoyltransferase deficiency skos:exactMatch NANDO:1200804 Ornithine transcarbamylase deficiency semapv:MappingInversion -MONDO:0008988 citrullinemia type I skos:exactMatch NANDO:1200805 Classic citrullinemia semapv:MappingInversion -MONDO:0008815 argininosuccinic aciduria skos:exactMatch NANDO:1200806 Argininosuccinic aciduria semapv:MappingInversion -MONDO:0008814 hyperargininemia skos:exactMatch NANDO:1200807 Argininemia semapv:MappingInversion -MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:exactMatch NANDO:1200808 NAGS deficiency semapv:MappingInversion -MONDO:0009109 lysinuric protein intolerance skos:exactMatch NANDO:1200809 Lysinuric protein intolerance semapv:MappingInversion -MONDO:0009238 hereditary folate malabsorption skos:exactMatch NANDO:1200810 Hereditary folate malabsorption semapv:MappingInversion -MONDO:0037939 porphyria skos:exactMatch NANDO:1200811 Porphyria semapv:MappingInversion -MONDO:0008294 acute intermittent porphyria skos:exactMatch NANDO:1200812 Acute intermittent porphyria semapv:MappingInversion -MONDO:0007369 hereditary coproporphyria skos:exactMatch NANDO:1200813 Hereditary coproporphyria semapv:MappingInversion -MONDO:0008297 variegate porphyria skos:exactMatch NANDO:1200814 Variegate porphyria semapv:MappingInversion -MONDO:0001676 erythropoietic protoporphyria skos:exactMatch NANDO:1200815 Erythropoietic protoporphyria semapv:MappingInversion -MONDO:0008319 protoporphyria, erythropoietic, 1 skos:exactMatch NANDO:1200815 Erythropoietic protoporphyria semapv:MappingInversion -MONDO:0019263 autosomal erythropoietic protoporphyria skos:exactMatch NANDO:1200815 Erythropoietic protoporphyria semapv:MappingInversion -MONDO:0015104 porphyria cutanea tarda skos:exactMatch NANDO:1200816 Porphyria cutanea tarda semapv:MappingInversion -MONDO:0009902 cutaneous porphyria skos:exactMatch NANDO:1200817 Congenital erythropoietic porphyria semapv:MappingInversion -MONDO:0010420 X-linked erythropoietic protoporphyria skos:exactMatch NANDO:1200818 X-linked dominant protoporphyria semapv:MappingInversion -MONDO:0019799 hepatoerythropoietic porphyria skos:exactMatch NANDO:1200819 Hepatoerythropoietic porphyria semapv:MappingInversion -MONDO:0015454 multiple carboxylase deficiency skos:exactMatch NANDO:1200820 Multiple carboxylase deficiency semapv:MappingInversion -MONDO:0009666 holocarboxylase synthetase deficiency skos:exactMatch NANDO:1200821 Holocarboxylase synthetase deficiency semapv:MappingInversion -MONDO:0009665 biotinidase deficiency skos:exactMatch NANDO:1200822 Biotinidase deficiency semapv:MappingInversion -MONDO:0009295 glycogen storage disease VII skos:exactMatch NANDO:1200823 Muscle glycogen storage disease semapv:MappingInversion -MONDO:0016118 obsolete muscular glycogenosis skos:exactMatch NANDO:1200823 Muscle glycogen storage disease semapv:MappingInversion -MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:exactMatch NANDO:1200824 Glycogen storage diseases type 0 semapv:MappingInversion -MONDO:0017693 obsolete glycogen storage disease due to glycogen synthase deficiency skos:exactMatch NANDO:1200824 Glycogen storage diseases type 0 semapv:MappingInversion -MONDO:0009290 glycogen storage disease II skos:exactMatch NANDO:1200825 Glycogen storage diseases type II semapv:MappingInversion -MONDO:0009291 glycogen storage disease III skos:exactMatch NANDO:1200826 Glycogen storage diseases type III semapv:MappingInversion -MONDO:0008222 Andersen-Tawil syndrome skos:exactMatch NANDO:1200827 Glycogen storage diseases type IV semapv:MappingInversion -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:exactMatch NANDO:1200827 Glycogen storage diseases type IV semapv:MappingInversion -MONDO:0009293 glycogen storage disease V skos:exactMatch NANDO:1200828 Glycogen storage diseases type V semapv:MappingInversion -MONDO:0009295 glycogen storage disease VII skos:exactMatch NANDO:1200829 Glycogen storage diseases type VII semapv:MappingInversion -MONDO:0010362 glycogen storage disease IXd skos:exactMatch NANDO:1200830 Glycogen storage diseases type IXd semapv:MappingInversion -MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:exactMatch NANDO:1200831 Phosphoglycerate kinase deficiency semapv:MappingInversion -MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency skos:exactMatch NANDO:1200832 Glycogen storage diseases type X semapv:MappingInversion -MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency skos:exactMatch NANDO:1200833 Glycogen storage diseases type XI semapv:MappingInversion -MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:exactMatch NANDO:1200834 Glycogen storage diseases type XII semapv:MappingInversion -MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency skos:exactMatch NANDO:1200835 Glycogen storage diseases type XIII semapv:MappingInversion -MONDO:0013968 PGM1-congenital disorder of glycosylation skos:exactMatch NANDO:1200836 Glycogen storage diseases type XIV semapv:MappingInversion -MONDO:0013291 glycogen storage disease XV skos:exactMatch NANDO:1200837 Glycogen storage diseases type XV semapv:MappingInversion -MONDO:0002412 disorder of glycogen metabolism skos:exactMatch NANDO:1200838 Hepatic glycogen storage disease semapv:MappingInversion -MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:exactMatch NANDO:1200838 Hepatic glycogen storage disease semapv:MappingInversion -MONDO:0002413 glycogen storage disease I skos:exactMatch NANDO:1200840 Hepatic glycogen storage disease type Ia semapv:MappingInversion -MONDO:0009288 glycogen storage disease Ib skos:exactMatch NANDO:1200841 Hepatic glycogen storage disease type Ib semapv:MappingInversion -MONDO:0023258 glycogen storage disease type 1 due to SLC37A4 mutation skos:exactMatch NANDO:1200841 Hepatic glycogen storage disease type Ib semapv:MappingInversion -MONDO:0009291 glycogen storage disease III skos:exactMatch NANDO:1200844 Hepatic GSD type IIIc semapv:MappingInversion -MONDO:0009294 glycogen storage disease VI skos:exactMatch NANDO:1200846 Hepatic glycogen storage disease type VI semapv:MappingInversion -MONDO:0010598 glycogen storage disease IXa1 skos:exactMatch NANDO:1200847 Hepatic glycogen storage disease type IXa semapv:MappingInversion -MONDO:0009868 glycogen storage disease IXb skos:exactMatch NANDO:1200848 Hepatic glycogen storage disease type IXb semapv:MappingInversion -MONDO:0013091 glycogen storage disease IXc skos:exactMatch NANDO:1200849 Hepatic glycogen storage disease type IXc semapv:MappingInversion -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:exactMatch NANDO:1200850 Hepatic glycogen storage disease type IV semapv:MappingInversion -MONDO:0009258 classic galactosemia skos:exactMatch NANDO:1200851 Galactose-1-phosphate uridyltransferase deficiency semapv:MappingInversion -MONDO:0009515 Norum disease skos:exactMatch NANDO:1200852 Lecithin cholesterol acyltransferase deficiency semapv:MappingInversion -MONDO:0018999 LCAT deficiency skos:exactMatch NANDO:1200852 Lecithin cholesterol acyltransferase deficiency semapv:MappingInversion -MONDO:0008863 sitosterolemia skos:exactMatch NANDO:1200853 Sitosterolemia semapv:MappingInversion -MONDO:0008783 Tangier disease skos:exactMatch NANDO:1200854 Tangier disease semapv:MappingInversion -MONDO:0008948 cerebrotendinous xanthomatosis skos:exactMatch NANDO:1200856 Cerebrotendinous xanthomatosis semapv:MappingInversion -MONDO:0008692 abetalipoproteinemia skos:exactMatch NANDO:1200857 Abetalipoproteinemia semapv:MappingInversion -MONDO:0006573 lipodystrophy skos:exactMatch NANDO:1200858 Lipodystrophy semapv:MappingInversion -MONDO:0006536 congenital generalized lipodystrophy skos:exactMatch NANDO:1200859 Generalized congenital lipodystrophy semapv:MappingInversion -MONDO:0018883 Berardinelli-Seip congenital lipodystrophy skos:exactMatch NANDO:1200859 Generalized congenital lipodystrophy semapv:MappingInversion -MONDO:0019193 acquired generalized lipodystrophy skos:exactMatch NANDO:1200860 Acquired generalized lipodystrophy semapv:MappingInversion -MONDO:0020088 familial partial lipodystrophy skos:exactMatch NANDO:1200861 Familial partial lipodystrophy semapv:MappingInversion -MONDO:0012104 acquired partial lipodystrophy skos:exactMatch NANDO:1200862 Acquired partial lipodystrophy semapv:MappingInversion -MONDO:0018088 familial Mediterranean fever skos:exactMatch NANDO:1200863 Familial Mediterranean fever semapv:MappingInversion -MONDO:0009572 autosomal recessive familial Mediterranean fever skos:exactMatch NANDO:1200864 Typical familial Mediterranean fever semapv:MappingInversion -MONDO:0009849 hyperimmunoglobulinemia D with periodic fever skos:exactMatch NANDO:1200866 Hyper IgD syndrome semapv:MappingInversion -MONDO:0012481 mevalonic aciduria skos:exactMatch NANDO:1200866 Hyper IgD syndrome semapv:MappingInversion -MONDO:0009726 proteosome-associated autoinflammatory syndrome skos:exactMatch NANDO:1200867 Nakajo-Nishimura syndrome semapv:MappingInversion -MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:exactMatch NANDO:1200868 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome semapv:MappingInversion -MONDO:0009813 chronic recurrent multifocal osteomyelitis skos:exactMatch NANDO:1200869 Chronic recurrent multifocal osteomyelitis semapv:MappingInversion -MONDO:0005306 ankylosing spondylitis skos:exactMatch NANDO:1200870 Ankylosing spondylitis semapv:MappingInversion -MONDO:0003964 myositis ossificans skos:exactMatch NANDO:1200871 Fibrodysplasia ossificans progressiva semapv:MappingInversion -MONDO:0007606 fibrodysplasia ossificans progressiva skos:exactMatch NANDO:1200871 Fibrodysplasia ossificans progressiva semapv:MappingInversion -MONDO:0019019 osteogenesis imperfecta skos:exactMatch NANDO:1200873 Osteogenesis imperfecta semapv:MappingInversion -MONDO:0017042 thanatophoric dysplasia skos:exactMatch NANDO:1200874 Thanatophoric dysplasia semapv:MappingInversion -MONDO:0008546 thanatophoric dysplasia type 1 skos:exactMatch NANDO:1200875 Thanatophoric dysplasia type 1 semapv:MappingInversion -MONDO:0008547 thanatophoric dysplasia type 2 skos:exactMatch NANDO:1200876 Thanatophoric dysplasia type 2 semapv:MappingInversion -MONDO:0007037 Achondroplasia skos:exactMatch NANDO:1200877 Achondroplasia semapv:MappingInversion -MONDO:0003157 disappearing bone disease skos:exactMatch NANDO:1200878 Lymphangiomatosis / Gorham-Stout disease semapv:MappingInversion -MONDO:0007414 Gorham-Stout disease skos:exactMatch NANDO:1200878 Lymphangiomatosis / Gorham-Stout disease semapv:MappingInversion -MONDO:0015408 diffuse lymphatic malformation skos:exactMatch NANDO:1200879 obsolete Lymphangiomatosis semapv:MappingInversion -MONDO:0003157 disappearing bone disease skos:exactMatch NANDO:1200880 obsolete Gorham disease semapv:MappingInversion -MONDO:0007414 Gorham-Stout disease skos:exactMatch NANDO:1200880 obsolete Gorham disease semapv:MappingInversion -MONDO:0016233 obsolete rare lymphatic system malformation skos:exactMatch NANDO:1200881 Giant lymphatic malformation (cervicofacial lesion) semapv:MappingInversion -MONDO:0019328 macrocystic lymphatic malformation skos:exactMatch NANDO:1200881 Giant lymphatic malformation (cervicofacial lesion) semapv:MappingInversion -MONDO:0007864 angioosteohypertrophic syndrome skos:exactMatch NANDO:1200884 Klippel-Trenaunay-Weber syndrome semapv:MappingInversion -MONDO:0019403 congenital dyserythropoietic anemia skos:exactMatch NANDO:1200885 Congenital dyserythropoietic anemia semapv:MappingInversion -MONDO:0020337 congenital dyserythropoietic anemia type 1 skos:exactMatch NANDO:1200886 Congenital dyserythropoietic anemia type I semapv:MappingInversion -MONDO:0009134 congenital dyserythropoietic anemia type 2 skos:exactMatch NANDO:1200887 Congenital dyserythropoietic anemia type II semapv:MappingInversion -MONDO:0007109 congenital dyserythropoietic anemia type 3 skos:exactMatch NANDO:1200888 Congenital dyserythropoietic anemia type III semapv:MappingInversion -MONDO:0020338 adult pure red cell aplasia skos:exactMatch NANDO:1200889 Acquired pure red cell aplasia semapv:MappingInversion -MONDO:0015253 Diamond-Blackfan anemia skos:exactMatch NANDO:1200890 Diamond-Blackfan anemia semapv:MappingInversion -MONDO:0019391 Fanconi anemia skos:exactMatch NANDO:1200891 Fanconi anemia semapv:MappingInversion -MONDO:0020099 inherited sideroblastic anemia skos:exactMatch NANDO:1200892 Hereditary sideroblastic anemia semapv:MappingInversion -MONDO:0007954 obsolete May-Hegglin anomaly skos:exactMatch NANDO:1200893 Epstein syndrome semapv:MappingInversion -MONDO:0020599 acquired coagulation factor deficiency skos:exactMatch NANDO:1200896 Autoimmune acquired coagulation factor deficiency semapv:MappingInversion -MONDO:0021133 acquired factor XIII deficiency skos:exactMatch NANDO:1200897 Autoimmune hemorrhaphilia XIII/13 semapv:MappingInversion -MONDO:0019139 acquired hemophilia skos:exactMatch NANDO:1200898 Acquired hemophilia A semapv:MappingInversion -MONDO:0020460 acquired von willebrand syndrome skos:exactMatch NANDO:1200899 Acquired von Willebrand disease semapv:MappingInversion -MONDO:0008283 Cronkhite-Canada syndrome skos:exactMatch NANDO:1200901 Cronkhite-Canada syndrome semapv:MappingInversion -MONDO:0018309 Hirschsprung disease skos:exactMatch NANDO:1200903 Hirschsprung disease semapv:MappingInversion -MONDO:0009774 cloacal exstrophy skos:exactMatch NANDO:1200909 Cloacal exstrophy semapv:MappingInversion -MONDO:0009774 cloacal exstrophy skos:exactMatch NANDO:1200910 Persistent cloaca semapv:MappingInversion -MONDO:0005711 congenital diaphragmatic hernia skos:exactMatch NANDO:1200911 Congenital diaphragmatic hernia semapv:MappingInversion -MONDO:0008867 biliary atresia skos:exactMatch NANDO:1200913 Biliary atresia semapv:MappingInversion -MONDO:0028737 obsolete biliary atresia disorder skos:exactMatch NANDO:1200913 Biliary atresia semapv:MappingInversion -MONDO:0007318 Alagille syndrome skos:exactMatch NANDO:1200918 Alagille syndrome semapv:MappingInversion -MONDO:0007318 Alagille syndrome skos:exactMatch NANDO:1200919 Typical Alagille syndrome semapv:MappingInversion -MONDO:0008185 hereditary chronic pancreatitis skos:exactMatch NANDO:1200921 Hereditary pancreatitis semapv:MappingInversion -MONDO:0009061 cystic fibrosis skos:exactMatch NANDO:1200922 Cystic fibrosis semapv:MappingInversion -MONDO:0017287 IgG4-related disease skos:exactMatch NANDO:1200923 IgG4-related disease semapv:MappingInversion -MONDO:0017287 IgG4-related disease skos:exactMatch NANDO:1200924 IgG4-related disease semapv:MappingInversion -MONDO:0015175 autoimmune pancreatitis skos:exactMatch NANDO:1200925 Autoimmune pancreatitis semapv:MappingInversion -MONDO:0018645 IgG4-related sclerosing cholangitis skos:exactMatch NANDO:1200928 IgG4-related sclerosing cholangitis semapv:MappingInversion -MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis skos:exactMatch NANDO:1200929 IgG4-related dacryoadenitis and sialadenitis semapv:MappingInversion -MONDO:0018671 IgG4-related kidney disease skos:exactMatch NANDO:1200930 IgG4-related kidney disease semapv:MappingInversion -MONDO:0020242 hereditary macular dystrophy skos:exactMatch NANDO:1200931 Macular dystrophy semapv:MappingInversion -MONDO:0000390 vitelliform macular dystrophy skos:exactMatch NANDO:1200932 Vitelliform macular dystrophy semapv:MappingInversion -MONDO:0019353 Stargardt disease skos:exactMatch NANDO:1200933 Stargardt disease semapv:MappingInversion -MONDO:0013316 occult macular dystrophy skos:exactMatch NANDO:1200934 Occult macular dystrophy semapv:MappingInversion -MONDO:0000455 cone dystrophy skos:exactMatch NANDO:1200936 Cone dystrophy semapv:MappingInversion -MONDO:0015993 cone-rod dystrophy skos:exactMatch NANDO:1200937 Cone-rod dystrophy semapv:MappingInversion -MONDO:0010725 X-linked retinoschisis skos:exactMatch NANDO:1200938 X-linked juvenile retinoschisis semapv:MappingInversion -MONDO:0004890 partial central choroid dystrophy skos:exactMatch NANDO:1200939 Central areolar choroidal dystrophy semapv:MappingInversion -MONDO:0008982 central areolar choroidal dystrophy skos:exactMatch NANDO:1200939 Central areolar choroidal dystrophy semapv:MappingInversion -MONDO:0010788 Leber hereditary optic neuropathy skos:exactMatch NANDO:1200940 Leber hereditary optic neuropathy semapv:MappingInversion -MONDO:0019501 Usher syndrome skos:exactMatch NANDO:1200941 Usher syndrome semapv:MappingInversion -MONDO:0010168 Usher syndrome type 1 skos:exactMatch NANDO:1200942 Usher syndrome type I semapv:MappingInversion -MONDO:0016484 Usher syndrome type 2 skos:exactMatch NANDO:1200943 Usher syndrome Type II semapv:MappingInversion -MONDO:0016485 Usher syndrome type 3 skos:exactMatch NANDO:1200944 Usher syndrome Type III semapv:MappingInversion -MONDO:0010079 Canavan disease skos:exactMatch NANDO:1200948 Canavan disease semapv:MappingInversion -MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts skos:exactMatch NANDO:1200950 Megaloencephalic leukoencephalopathy with subcortical cysts semapv:MappingInversion -MONDO:0011380 obsolete leukoencephalopathy with vanishing white matter skos:exactMatch NANDO:1200951 Vanishing white matter disease semapv:MappingInversion -MONDO:0014387 leukoencephalopathy, progressive, with ovarian failure skos:exactMatch NANDO:1200952 Leukoencephalopathy, progressive, with ovarian failure semapv:MappingInversion -MONDO:0020074 progressive myoclonus epilepsy skos:exactMatch NANDO:1200953 Progressive myoclonus epilepsy semapv:MappingInversion -MONDO:0009698 Unverricht-Lundborg syndrome skos:exactMatch NANDO:1200954 Unverricht-Lundborg disease semapv:MappingInversion -MONDO:0009697 Lafora disease skos:exactMatch NANDO:1200955 Lafora disease semapv:MappingInversion -MONDO:0019448 benign adult familial myoclonic epilepsy skos:exactMatch NANDO:1200956 Benign adult familial myoclonus epilepsy semapv:MappingInversion -MONDO:0000839 obsolete congenital abnormality skos:exactMatch NANDO:1200957 Congenital anomalies syndrome semapv:MappingInversion -MONDO:0016952 partial duplication of the long arm of chromosome 1 skos:exactMatch NANDO:1200958 Partial trisomy 1q semapv:MappingInversion -MONDO:0012455 Kleefstra syndrome skos:exactMatch NANDO:1200959 9q34 deletion syndrome semapv:MappingInversion -MONDO:0016033 Cornelia de Lange syndrome skos:exactMatch NANDO:1200960 Cornelia de lange syndrome semapv:MappingInversion -MONDO:0010035 Smith-Lemli-Opitz syndrome skos:exactMatch NANDO:1200961 Smith-lemli-opitz syndrome semapv:MappingInversion -MONDO:0011514 tricuspid atresia skos:exactMatch NANDO:1200962 Congenital tricuspid stenosis semapv:MappingInversion -MONDO:0019813 congenital tricuspid stenosis skos:exactMatch NANDO:1200962 Congenital tricuspid stenosis semapv:MappingInversion -MONDO:0005852 mitral valve stenosis skos:exactMatch NANDO:1200963 Congenital mitral stenosis semapv:MappingInversion -MONDO:0020398 congenital mitral stenosis skos:exactMatch NANDO:1200963 Congenital mitral stenosis semapv:MappingInversion -MONDO:0017864 congenital pulmonary veins atresia or stenosis skos:exactMatch NANDO:1200964 Congenital pulmonary vein stenosis semapv:MappingInversion -MONDO:0008061 nail-patella syndrome skos:exactMatch NANDO:1200967 Nail-patella syndrome semapv:MappingInversion -MONDO:0017716 disorder of carnitine cycle and carnitine transport skos:exactMatch NANDO:1200969 Carnitine cycle disorders semapv:MappingInversion -MONDO:0009705 carnitine palmitoyl transferase 1A deficiency skos:exactMatch NANDO:1200970 Carnitine palmitoyltransferase I deficiency semapv:MappingInversion -MONDO:0015515 carnitine palmitoyltransferase II deficiency skos:exactMatch NANDO:1200971 Carnitine palmitoyltransferase II deficiency semapv:MappingInversion -MONDO:0008918 carnitine-acylcarnitine translocase deficiency skos:exactMatch NANDO:1200972 Carnitine-acylcarnitine translocase deficiency semapv:MappingInversion -MONDO:0008919 systemic primary carnitine deficiency disease skos:exactMatch NANDO:1200973 Systemic primary carnitine deficiency semapv:MappingInversion -MONDO:0012172 mitochondrial trifunctional protein deficiency skos:exactMatch NANDO:1200974 Trifunctional protein deficiency semapv:MappingInversion -MONDO:0016602 citrin deficiency skos:exactMatch NANDO:1200978 Citrin deficiency semapv:MappingInversion -MONDO:0011601 neonatal intrahepatic cholestasis due to citrin deficiency skos:exactMatch NANDO:1200979 Neonatal intrahepatic cholestasis caused by citrin deficiency semapv:MappingInversion -MONDO:0011326 citrullinemia, type II, adult-onset skos:exactMatch NANDO:1200980 Adult-onset type II citrullinemia semapv:MappingInversion -MONDO:0016603 citrullinemia type II skos:exactMatch NANDO:1200980 Adult-onset type II citrullinemia semapv:MappingInversion -MONDO:0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency skos:exactMatch NANDO:1200982 Sepiapterin reductase deficiency semapv:MappingInversion -MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency skos:exactMatch NANDO:1200983 Inherited glycosylphosphatidylinositol deficiency semapv:MappingInversion -MONDO:0011612 glycine encephalopathy skos:exactMatch NANDO:1200984 Nonketotic hyperglycinemia semapv:MappingInversion -MONDO:0017353 neonatal glycine encephalopathy skos:exactMatch NANDO:1200985 Neonatal nonketotic hyperglycinemia semapv:MappingInversion -MONDO:0017354 infantile glycine encephalopathy skos:exactMatch NANDO:1200986 Infantile nonketotic hyperglycinemia semapv:MappingInversion -MONDO:0008760 beta-ketothiolase deficiency skos:exactMatch NANDO:1200987 Beta-ketothiolase deficiency semapv:MappingInversion -MONDO:0012084 aromatic L-amino acid decarboxylase deficiency skos:exactMatch NANDO:1200988 Aromatic L-amino acid decarboxylase deficiency semapv:MappingInversion -MONDO:0017359 3-methylglutaconic aciduria skos:exactMatch NANDO:1200989 Methylglutaconic aciduria semapv:MappingInversion -MONDO:0009610 3-methylglutaconic aciduria type 1 skos:exactMatch NANDO:1200990 3-methylglutaconic aciduria type I semapv:MappingInversion -MONDO:0010543 Barth syndrome skos:exactMatch NANDO:1200991 3-methylglutaconicaciduria type II semapv:MappingInversion -MONDO:0009787 3-methylglutaconic aciduria type 3 skos:exactMatch NANDO:1200992 3-methylglutaconic aciduria type III semapv:MappingInversion -MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome skos:exactMatch NANDO:1200994 NLRC4 mutation semapv:MappingInversion -MONDO:0014306 vasculitis due to ADA2 deficiency skos:exactMatch NANDO:1200995 Adenosine deaminase 2 deficiency semapv:MappingInversion -MONDO:0018866 Aicardi-Goutieres syndrome skos:exactMatch NANDO:1200996 Aicardi-Goutières Syndrome semapv:MappingInversion -MONDO:0100222 A20 haploinsufficiency skos:exactMatch NANDO:1200997 A20 haploinsufficiency semapv:MappingInversion -MONDO:0017198 osteopetrosis skos:exactMatch NANDO:1200998 Osteopetrosis semapv:MappingInversion -MONDO:0019503 anterior segment dysgenesis skos:exactMatch NANDO:1201000 Anterior segment dysgenesis semapv:MappingInversion -MONDO:0019172 aniridia skos:exactMatch NANDO:1201001 Aniridia semapv:MappingInversion -MONDO:0011340 congenital tracheal stenosis skos:exactMatch NANDO:1201003 Congenital tracheal stenosis semapv:MappingInversion -MONDO:0015395 congenital subglottic stenosis skos:exactMatch NANDO:1201004 Congenital subglottic stenosis semapv:MappingInversion -MONDO:0008777 gelatinous drop-like corneal dystrophy skos:exactMatch NANDO:1201006 Gelatinous drop-like corneal dystrophy semapv:MappingInversion -MONDO:0008310 Hutchinson-Gilford progeria syndrome skos:exactMatch NANDO:1201007 Hutchinson-Gilford syndrome semapv:MappingInversion -MONDO:0012105 granulomatosis with polyangiitis skos:exactMatch NANDO:1201009 Systemic granulomatosis with polyangiitis semapv:MappingInversion -MONDO:0016356 diffuse cutaneous systemic sclerosis skos:exactMatch NANDO:1201010 Diffuse cutaneous systemic sclerosis semapv:MappingInversion -MONDO:0016358 limited cutaneous systemic sclerosis skos:exactMatch NANDO:1201011 Limited cutaneous systemic sclerosis semapv:MappingInversion -MONDO:0019563 CREST syndrome skos:exactMatch NANDO:1201011 Limited cutaneous systemic sclerosis semapv:MappingInversion -MONDO:0002413 glycogen storage disease I skos:exactMatch NANDO:1201018 Hepatic glycogen storage disease type I semapv:MappingInversion -MONDO:0009291 glycogen storage disease III skos:exactMatch NANDO:1201019 Hepatic glycogen storage disease type III semapv:MappingInversion -MONDO:0018251 obsolete glycogen storage disease due to phosphorylase kinase deficiency skos:exactMatch NANDO:1201020 Hepatic glycogen storage disease type IX semapv:MappingInversion -MONDO:0009061 cystic fibrosis skos:exactMatch NANDO:1201021 Cystic fibrosis semapv:MappingInversion -MONDO:0003139 mesangial proliferative glomerulonephritis skos:exactMatch NANDO:1201029 Mesangial proliferative glomerulonephritis semapv:MappingInversion -MONDO:0000456 cerebral creatine deficiency syndrome skos:exactMatch NANDO:1201032 Cerebral creatine deficiency syndromes semapv:MappingInversion -MONDO:0012996 AGAT deficiency skos:exactMatch NANDO:1201033 Arginine:glycine amidinotransferase deficiency semapv:MappingInversion -MONDO:0012999 guanidinoacetate methyltransferase deficiency skos:exactMatch NANDO:1201034 Guanidinoacetate methyltransferase deficiency semapv:MappingInversion -MONDO:0010305 creatine transporter deficiency skos:exactMatch NANDO:1201035 Creatine transporter deficiency semapv:MappingInversion -MONDO:0009728 nephronophthisis 1 skos:exactMatch NANDO:1201036 Nephronophthisis semapv:MappingInversion -MONDO:0019005 nephronophthisis skos:exactMatch NANDO:1201036 Nephronophthisis semapv:MappingInversion -MONDO:0014252 familial hypobetalipoproteinemia 1 skos:exactMatch NANDO:1201037 Homozygous familial hypobetalipoproteinemia 1 semapv:MappingInversion -MONDO:0004737 homocystinuria skos:exactMatch NANDO:1201038 Homocystinuria semapv:MappingInversion -MONDO:0009352 classic homocystinuria skos:exactMatch NANDO:1201039 Homocystinuria type 1 semapv:MappingInversion -MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:exactMatch NANDO:1201040 Homocystinuria type 2 semapv:MappingInversion -MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency skos:exactMatch NANDO:1201041 Homocystinuria type 3 semapv:MappingInversion -MONDO:0015762 progressive familial intrahepatic cholestasis skos:exactMatch NANDO:1201042 Progressive familial intrahepatic cholestasis semapv:MappingInversion -MONDO:0008892 progressive familial intrahepatic cholestasis type 1 skos:exactMatch NANDO:1201043 Progressive familial intrahepatic cholestasis type 1 semapv:MappingInversion -MONDO:0011156 progressive familial intrahepatic cholestasis type 2 skos:exactMatch NANDO:1201044 Progressive familial intrahepatic cholestasis type 2 semapv:MappingInversion -MONDO:0011214 progressive familial intrahepatic cholestasis type 3 skos:exactMatch NANDO:1201045 Progressive familial intrahepatic cholestasis type 3 semapv:MappingInversion -MONDO:0014381 cholestasis, progressive familial intrahepatic, 4 skos:exactMatch NANDO:1201046 Progressive familial intrahepatic cholestasis type 4 semapv:MappingInversion -MONDO:0014884 cholestasis, progressive familial intrahepatic, 5 skos:exactMatch NANDO:1201047 Progressive familial intrahepatic cholestasis type 5 semapv:MappingInversion -MONDO:0021134 acquired factor X deficiency skos:exactMatch NANDO:1201048 Acquired factor X inhibitor semapv:MappingInversion -MONDO:0017842 Senior-Loken syndrome skos:exactMatch NANDO:1201049 Senior-Loken syndrome semapv:MappingInversion -MONDO:0008996 obsolete COACH syndrome 1 skos:exactMatch NANDO:1201050 COACH syndrome semapv:MappingInversion -MONDO:0015375 orofaciodigital syndrome skos:exactMatch NANDO:1201051 Oral-facial-digital syndrome semapv:MappingInversion -MONDO:0011281 congenital myasthenic syndrome 5 skos:exactMatch NANDO:1201056 End-plate acetylcholine esterase deficiency semapv:MappingInversion -MONDO:0009689 congenital myasthenic syndrome 6 skos:exactMatch NANDO:1201057 Congenital myasthenic syndrome with episodic apnoea semapv:MappingInversion -MONDO:0009955 rapadilino syndrome skos:exactMatch NANDO:1201058 RAPADILINO syndrome semapv:MappingInversion -MONDO:0009039 Baller-Gerold syndrome skos:exactMatch NANDO:1201059 Baller-Gerold syndrome semapv:MappingInversion -MONDO:0007100 familial amyloid neuropathy skos:exactMatch NANDO:1201060 Familial amyloid polyneuropathy type 1 semapv:MappingInversion -MONDO:0019731 AApoAI amyloidosis skos:exactMatch NANDO:1201062 Familial amyloid polyneuropathy type 3 semapv:MappingInversion -MONDO:0007097 Finnish type amyloidosis skos:exactMatch NANDO:1201063 Familial amyloid polyneuropathy type 4 semapv:MappingInversion -MONDO:0010787 Kearns-Sayre syndrome skos:exactMatch NANDO:1201064 Kearns-Sayre syndrome semapv:MappingInversion -MONDO:0009182 junctional epidermolysis bullosa Herlitz type skos:exactMatch NANDO:1201065 Herlitz junctional epidermolysis bullosa semapv:MappingInversion -MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:exactMatch NANDO:1201066 Non-Herlitz junctional epidermolysis bullosa semapv:MappingInversion -MONDO:0044778 nodular lymphocyte predominant Hodgkin lymphoma skos:exactMatch NANDO:1201067 Nodular lymphocyte predominance Hodgkin lymphoma semapv:MappingInversion -MONDO:0015146 classic lissencephaly skos:exactMatch NANDO:1201068 Agyria semapv:MappingInversion -MONDO:0022402 agyria-pachygyria type 1 skos:exactMatch NANDO:1201068 Agyria semapv:MappingInversion -MONDO:0015146 classic lissencephaly skos:exactMatch NANDO:1201069 Pachygyria semapv:MappingInversion -MONDO:0022402 agyria-pachygyria type 1 skos:exactMatch NANDO:1201069 Pachygyria semapv:MappingInversion -MONDO:0020491 subcortical band heterotopia skos:exactMatch NANDO:1201070 Subcortical band heterotopia semapv:MappingInversion -MONDO:0000087 polymicrogyria skos:exactMatch NANDO:1201071 Polymicrogyria semapv:MappingInversion -MONDO:0018869 cobblestone lissencephaly skos:exactMatch NANDO:1201072 Cobblestone brain malformation semapv:MappingInversion -MONDO:0010011 schizencephaly skos:exactMatch NANDO:1201073 Schizencephaly semapv:MappingInversion -MONDO:0017410 porencephaly skos:exactMatch NANDO:1201074 Porencephaly semapv:MappingInversion -MONDO:0007078 Pseudohypoparathyroidism type 1A skos:exactMatch NANDO:1201075 Pseudohypoparathyroidism type 1A semapv:MappingInversion -MONDO:0011301 pseudohypoparathyroidism type 1B skos:exactMatch NANDO:1201076 Pseudohypoparathyroidism type 1B semapv:MappingInversion -MONDO:0012911 pseudohypoparathyroidism type 1C skos:exactMatch NANDO:1201077 Pseudohypoparathyroidism type 1C semapv:MappingInversion -MONDO:0008749 pseudohypoparathyroidism type 2 skos:exactMatch NANDO:1201078 Pseudohypoparathyroidism type 2 semapv:MappingInversion -MONDO:0020341 periventricular nodular heterotopia skos:exactMatch NANDO:1201079 Periventricular nodular heterotopia semapv:MappingInversion -MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency skos:exactMatch NANDO:1201080 Protein C deficiency semapv:MappingInversion -MONDO:0002304 protein S deficiency skos:exactMatch NANDO:1201081 Protein S deficiency semapv:MappingInversion -MONDO:0009532 Miller-Dieker lissencephaly syndrome skos:exactMatch NANDO:1201083 Miller Dieker syndrome semapv:MappingInversion -MONDO:0004355 childhood leukemia skos:exactMatch NANDO:2100002 Leukemia semapv:MappingInversion -MONDO:0005059 leukemia skos:exactMatch NANDO:2100002 Leukemia semapv:MappingInversion -MONDO:0018881 myelodysplastic syndrome skos:exactMatch NANDO:2100003 Myelodysplastic syndrome semapv:MappingInversion -MONDO:0044873 childhood myelodysplastic syndrome skos:exactMatch NANDO:2100003 Myelodysplastic syndrome semapv:MappingInversion -MONDO:0003659 pediatric lymphoma skos:exactMatch NANDO:2100004 Lymphoma semapv:MappingInversion -MONDO:0003660 adult lymphoma skos:exactMatch NANDO:2100004 Lymphoma semapv:MappingInversion -MONDO:0005062 lymphoma skos:exactMatch NANDO:2100004 Lymphoma semapv:MappingInversion -MONDO:0002637 histiocytosis skos:exactMatch NANDO:2100005 Histiocytosis semapv:MappingInversion -MONDO:0002714 central nervous system cancer skos:exactMatch NANDO:2100007 Central nervous system tumors semapv:MappingInversion -MONDO:0005300 chronic kidney disease skos:exactMatch NANDO:2100008 Chronic kidney disease semapv:MappingInversion -MONDO:0005377 nephrotic syndrome skos:exactMatch NANDO:2100009 Nephrotic syndrome semapv:MappingInversion -MONDO:0001110 chronic pyelonephritis skos:exactMatch NANDO:2100012 Chronic pyelonephritis semapv:MappingInversion -MONDO:0000608 familial juvenile hyperuricemic nephropathy skos:exactMatch NANDO:2100014 Familial juvenile hyperuricemic nephropathy semapv:MappingInversion -MONDO:0019005 nephronophthisis skos:exactMatch NANDO:2100015 Nephronophthisis semapv:MappingInversion -MONDO:0001105 renal hypertension skos:exactMatch NANDO:2100016 Renovascular hypertension semapv:MappingInversion -MONDO:0006947 renovascular hypertension skos:exactMatch NANDO:2100016 Renovascular hypertension semapv:MappingInversion -MONDO:0001909 renal tubular acidosis skos:exactMatch NANDO:2100019 Renal tubular acidosis semapv:MappingInversion -MONDO:0009904 Gitelman syndrome skos:exactMatch NANDO:2100020 Gitelman syndrome semapv:MappingInversion -MONDO:0015231 Bartter syndrome skos:exactMatch NANDO:2100021 Bartter syndrome semapv:MappingInversion -MONDO:0005300 chronic kidney disease skos:exactMatch NANDO:2100023 Chronic renal failure semapv:MappingInversion -MONDO:0024327 chronic renal failure syndrome skos:exactMatch NANDO:2100023 Chronic renal failure semapv:MappingInversion -MONDO:0001083 Fanconi renotubular syndrome skos:exactMatch NANDO:2100027 Fanconi syndrome semapv:MappingInversion -MONDO:0010645 oculocerebrorenal syndrome skos:exactMatch NANDO:2100028 Lowe syndrome semapv:MappingInversion -MONDO:0010940 inherited susceptibility to asthma skos:exactMatch NANDO:2100031 Bronchial asthma semapv:MappingInversion -MONDO:0008852 obsolete congenital central hypoventilation syndrome skos:exactMatch NANDO:2100032 Congenital central hypoventilation syndrome semapv:MappingInversion -MONDO:0016575 primary ciliary dyskinesia skos:exactMatch NANDO:2100034 Primary ciliary dyskinesia semapv:MappingInversion -MONDO:0009061 cystic fibrosis skos:exactMatch NANDO:2100035 Cystic fibrosis semapv:MappingInversion -MONDO:0004822 bronchiectasis skos:exactMatch NANDO:2100036 Bronchiectasis semapv:MappingInversion -MONDO:0008346 pulmonary hemosiderosis skos:exactMatch NANDO:2100037 Idiopathic pulmonary hemosiderosis semapv:MappingInversion -MONDO:0015265 bronchiolitis obliterans syndrome skos:exactMatch NANDO:2100039 Bronchiolitis obliterans semapv:MappingInversion -MONDO:0005711 congenital diaphragmatic hernia skos:exactMatch NANDO:2100040 Congenital diaphragmatic hernia semapv:MappingInversion -MONDO:0001823 sick sinus syndrome skos:exactMatch NANDO:2100043 Sick sinus syndrome semapv:MappingInversion -MONDO:0001261 Mobitz type II atrioventricular block skos:exactMatch NANDO:2100044 Mobitz type II second degree atrioventricular block semapv:MappingInversion -MONDO:0020803 obsolete bundle branch block skos:exactMatch NANDO:2100046 Bundle branch block semapv:MappingInversion -MONDO:0005477 ventricular tachycardia skos:exactMatch NANDO:2100049 Ventricular tachycardia semapv:MappingInversion -MONDO:0005310 atrial flutter skos:exactMatch NANDO:2100050 Atrial flutter semapv:MappingInversion -MONDO:0004981 atrial fibrillation skos:exactMatch NANDO:2100051 Atrial fibrillation semapv:MappingInversion -MONDO:0000190 ventricular fibrillation skos:exactMatch NANDO:2100052 Ventricular fibrillation semapv:MappingInversion -MONDO:0002442 long QT syndrome skos:exactMatch NANDO:2100053 Long QT syndrome semapv:MappingInversion -MONDO:0005045 hypertrophic cardiomyopathy skos:exactMatch NANDO:2100054 Hypertrophic cardiomyopathy semapv:MappingInversion -MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy skos:exactMatch NANDO:2100055 Arrhythmogenic right ventricular cardiomyopathy or dysplasia semapv:MappingInversion -MONDO:0005021 dilated cardiomyopathy skos:exactMatch NANDO:2100057 Dilated cardiomyopathy semapv:MappingInversion -MONDO:0005201 restrictive cardiomyopathy skos:exactMatch NANDO:2100058 Restrictive cardiomyopathy semapv:MappingInversion -MONDO:0009169 endocardial fibroelastosis skos:exactMatch NANDO:2100060 Endocardial fibroelastosis semapv:MappingInversion -MONDO:0021209 heart neoplasm skos:exactMatch NANDO:2100061 Cardiac tumor semapv:MappingInversion -MONDO:0006711 constrictive pericarditis skos:exactMatch NANDO:2100064 Constrictive pericarditis semapv:MappingInversion -MONDO:0024644 myocardial ischemia skos:exactMatch NANDO:2100070 Ischemic heart disease semapv:MappingInversion -MONDO:0004933 hypoplastic left heart syndrome skos:exactMatch NANDO:2100071 Hypoplastic left heart syndrome semapv:MappingInversion -MONDO:0011514 tricuspid atresia skos:exactMatch NANDO:2100073 Tricuspid atresia semapv:MappingInversion -MONDO:0008542 tetralogy of fallot skos:exactMatch NANDO:2100075 Tetralogy of Fallot semapv:MappingInversion -MONDO:0018089 double outlet right ventricle skos:exactMatch NANDO:2100076 Double outlet right ventricle semapv:MappingInversion -MONDO:0018090 double outlet left ventricle skos:exactMatch NANDO:2100077 Double-outlet left ventricle semapv:MappingInversion -MONDO:0016301 congenitally corrected transposition of the great arteries skos:exactMatch NANDO:2100079 Congenitally corrected transposition of the great arteries semapv:MappingInversion -MONDO:0009144 Ebstein anomaly skos:exactMatch NANDO:2100080 Ebstein's anomaly semapv:MappingInversion -MONDO:0021902 aortopulmonary window skos:exactMatch NANDO:2100082 Aorto-pulmonary window semapv:MappingInversion -MONDO:0015450 triatrial heart skos:exactMatch NANDO:2100083 Cor triatriatum semapv:MappingInversion -MONDO:0011827 patent ductus arteriosus skos:exactMatch NANDO:2100084 Patent ductus arteriosus semapv:MappingInversion -MONDO:0006664 atrial septal defect skos:exactMatch NANDO:2100085 Atrial septal defect semapv:MappingInversion -MONDO:0015273 complete atrioventricular canal skos:exactMatch NANDO:2100086 Complete atrioventricular septal defect semapv:MappingInversion -MONDO:0002070 ventricular septal defect skos:exactMatch NANDO:2100087 Ventricular septal defect semapv:MappingInversion -MONDO:0020428 congenital Gerbode defect skos:exactMatch NANDO:2100090 Left ventricular-right atrial communication semapv:MappingInversion -MONDO:0006935 pulmonary subvalvular stenosis skos:exactMatch NANDO:2100092 Subvalvular pulmonary stenosis semapv:MappingInversion -MONDO:0006987 subvalvular aortic stenosis skos:exactMatch NANDO:2100093 Subvalvular aortic stenosis semapv:MappingInversion -MONDO:0020064 pulmonary valve agenesis skos:exactMatch NANDO:2100095 Absent pulmonary valve semapv:MappingInversion -MONDO:0004978 obsolete aortic stenosis skos:exactMatch NANDO:2100098 Aortic stenosis semapv:MappingInversion -MONDO:0005160 aortic aneurysm skos:exactMatch NANDO:2100101 Aortic aneurysm semapv:MappingInversion -MONDO:0015924 pulmonary arterial hypertension skos:exactMatch NANDO:2100103 Pulmonary arterial hypertension semapv:MappingInversion -MONDO:0002869 heart valve disorder skos:exactMatch NANDO:2100105 Valvular heart disease semapv:MappingInversion -MONDO:0005151 endocrine system disorder skos:exactMatch NANDO:2100109 Endocrine disease semapv:MappingInversion -MONDO:0005152 hypopituitarism skos:exactMatch NANDO:2100110 Hypopituitarism semapv:MappingInversion -MONDO:0020479 pituitary gigantism skos:exactMatch NANDO:2100111 Pituitary gigantism semapv:MappingInversion -MONDO:0019933 acromegaly skos:exactMatch NANDO:2100112 Acromegaly semapv:MappingInversion -MONDO:0015892 growth hormone insensitivity syndrome skos:exactMatch NANDO:2100114 Growth hormone insensitivity semapv:MappingInversion -MONDO:0005804 hyperprolactinemia skos:exactMatch NANDO:2100115 Hyperprolactinemia semapv:MappingInversion -MONDO:0006802 inappropriate ADH syndrome skos:exactMatch NANDO:2100116 Syndrome of inappropriate secretion of antidiuretic hormone semapv:MappingInversion -MONDO:0004782 diabetes insipidus skos:exactMatch NANDO:2100117 Diabetes insipidus semapv:MappingInversion -MONDO:0004425 hyperthyroidism skos:exactMatch NANDO:2100119 Hyperthyroidism semapv:MappingInversion -MONDO:0005420 hypothyroidism skos:exactMatch NANDO:2100120 Hypothyroidism semapv:MappingInversion -MONDO:0001328 thyroid hormone resistance syndrome skos:exactMatch NANDO:2100121 Resistance to thyroid hormone semapv:MappingInversion -MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive skos:exactMatch NANDO:2100121 Resistance to thyroid hormone semapv:MappingInversion -MONDO:0001741 hyperparathyroidism skos:exactMatch NANDO:2100123 Hyperparathyroidism semapv:MappingInversion -MONDO:0001220 hypoparathyroidism skos:exactMatch NANDO:2100124 Hypoparathyroidism semapv:MappingInversion -MONDO:0015895 obsolete syndrome with hypoparathyroidism skos:exactMatch NANDO:2100124 Hypoparathyroidism semapv:MappingInversion -MONDO:0017278 autoimmune polyendocrinopathy skos:exactMatch NANDO:2100125 Autoimmune polyendocrinopathy semapv:MappingInversion -MONDO:0019992 pseudohypoparathyroidism skos:exactMatch NANDO:2100126 Pseudohypoparathyroidism semapv:MappingInversion -MONDO:0006657 obsolete apparent mineralocorticoid excess syndrome skos:exactMatch NANDO:2100130 Apparent mineralocorticoid excess syndrome semapv:MappingInversion -MONDO:0009025 apparent mineralocorticoid excess skos:exactMatch NANDO:2100130 Apparent mineralocorticoid excess syndrome semapv:MappingInversion -MONDO:0008323 Liddle syndrome skos:exactMatch NANDO:2100131 Liddle syndrome semapv:MappingInversion -MONDO:0015900 hypoaldosteronism disease skos:exactMatch NANDO:2100132 Hypoaldosteronism semapv:MappingInversion -MONDO:0018638 pseudohypoaldosteronism skos:exactMatch NANDO:2100133 Pseudohypoaldosteronism semapv:MappingInversion -MONDO:0018479 congenital adrenal hyperplasia skos:exactMatch NANDO:2100134 Congenital adrenal hyperplasia semapv:MappingInversion -MONDO:0000088 precocious puberty skos:exactMatch NANDO:2100135 Precocious puberty semapv:MappingInversion -MONDO:0018555 hypogonadotropic hypogonadism skos:exactMatch NANDO:2100138 Hypogonadotropic hypogonadism semapv:MappingInversion -MONDO:0005387 primary ovarian failure skos:exactMatch NANDO:2100139 Hypergonadotropic hypogonadism semapv:MappingInversion -MONDO:0002145 disorder of sexual differentiation skos:exactMatch NANDO:2100140 Disorders of sex development semapv:MappingInversion -MONDO:0019959 glucagonoma skos:exactMatch NANDO:2100142 Glucagonoma semapv:MappingInversion -MONDO:0005803 hyperinsulinemic hypoglycemia skos:exactMatch NANDO:2100143 Hyperinsulinemic hypoglycemia semapv:MappingInversion -MONDO:0017182 familial hyperinsulinism skos:exactMatch NANDO:2100143 Hyperinsulinemic hypoglycemia semapv:MappingInversion -MONDO:0024299 vitamin D-dependent rickets skos:exactMatch NANDO:2100144 Vitamin D-dependent rickets semapv:MappingInversion -MONDO:0006573 lipodystrophy skos:exactMatch NANDO:2100147 Lipodystrophy semapv:MappingInversion -MONDO:0017169 multiple endocrine neoplasia skos:exactMatch NANDO:2100148 Multiple endocrine neoplasia semapv:MappingInversion -MONDO:0008487 polycystic ovary syndrome skos:exactMatch NANDO:2100149 Polycystic ovary syndrome semapv:MappingInversion -MONDO:0005554 rheumatic disorder skos:exactMatch NANDO:2100151 Collagen disease semapv:MappingInversion -MONDO:0005554 rheumatic disorder skos:exactMatch NANDO:2100152 Collagen disease semapv:MappingInversion -MONDO:0019125 relapsing polychondritis skos:exactMatch NANDO:2100154 Relapsing Polychondritis semapv:MappingInversion -MONDO:0019751 autoinflammatory syndrome skos:exactMatch NANDO:2100156 Autoinflammatory disease semapv:MappingInversion -MONDO:0005015 diabetes mellitus skos:exactMatch NANDO:2100157 Diabetes semapv:MappingInversion -MONDO:0005015 diabetes mellitus skos:exactMatch NANDO:2100158 Diabetes semapv:MappingInversion -MONDO:0019052 inborn errors of metabolism skos:exactMatch NANDO:2100159 Inborn errors of metabolism semapv:MappingInversion -MONDO:0037871 amino acid metabolism disease skos:exactMatch NANDO:2100160 Disorder of amino acid metabolism semapv:MappingInversion -MONDO:0045022 disorder of organic acid metabolism skos:exactMatch NANDO:2100161 Disorder of organic acid metabolism semapv:MappingInversion -MONDO:0037858 inherited fatty acid metabolism disorder skos:exactMatch NANDO:2100162 Disorder of fatty-acid metabolism semapv:MappingInversion -MONDO:0004069 inborn mitochondrial metabolism disorder skos:exactMatch NANDO:2100163 Mitochondrial diseases semapv:MappingInversion -MONDO:0044970 mitochondrial disease skos:exactMatch NANDO:2100163 Mitochondrial diseases semapv:MappingInversion -MONDO:0019214 inborn carbohydrate metabolic disorder skos:exactMatch NANDO:2100164 Disorder of carbohydrate metabolism semapv:MappingInversion -MONDO:0037792 carbohydrate metabolism disease skos:exactMatch NANDO:2100164 Disorder of carbohydrate metabolism semapv:MappingInversion -MONDO:0002561 lysosomal storage disease skos:exactMatch NANDO:2100165 Lysosomal storage disease semapv:MappingInversion -MONDO:0019053 peroxisomal disease skos:exactMatch NANDO:2100166 Peroxisomal disorder semapv:MappingInversion -MONDO:0003900 connective tissue disorder skos:exactMatch NANDO:2100172 Connective tissue disorder semapv:MappingInversion -MONDO:0013282 alpha 1-antitrypsin deficiency skos:exactMatch NANDO:2100174 Alpha-1-antitrypsin deficiency semapv:MappingInversion -MONDO:0005570 hematologic disorder skos:exactMatch NANDO:2100175 Blood disease semapv:MappingInversion -MONDO:0001700 megaloblastic anemia skos:exactMatch NANDO:2100176 Megaloblastic anemia semapv:MappingInversion -MONDO:0001705 pure red-cell aplasia skos:exactMatch NANDO:2100177 Pure red cell aplasia semapv:MappingInversion -MONDO:0019403 congenital dyserythropoietic anemia skos:exactMatch NANDO:2100178 Congenital dyserythropoietic anemia semapv:MappingInversion -MONDO:0015194 sideroblastic anemia skos:exactMatch NANDO:2100179 Sideroblastic anemia semapv:MappingInversion -MONDO:0008846 atransferrinemia skos:exactMatch NANDO:2100180 Congenital atransferrinemia semapv:MappingInversion -MONDO:0020108 autoimmune hemolytic anemia skos:exactMatch NANDO:2100181 Autoimmune hemolytic anemia semapv:MappingInversion -MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria skos:exactMatch NANDO:2100182 Paroxysmal nocturnal haemoglobinuria semapv:MappingInversion -MONDO:0003689 familial hemolytic anemia skos:exactMatch NANDO:2100183 Hereditary hemolytic anemia semapv:MappingInversion -MONDO:0009891 acquired polycythemia vera skos:exactMatch NANDO:2100186 Polycythemia vera semapv:MappingInversion -MONDO:0001115 familial polycythemia skos:exactMatch NANDO:2100187 Familial polycythemia semapv:MappingInversion -MONDO:0043768 thrombocytopenic purpura skos:exactMatch NANDO:2100188 Thrombocytopenic purpura semapv:MappingInversion -MONDO:0018896 thrombotic thrombocytopenic purpura skos:exactMatch NANDO:2100189 Thrombotic thrombocytopenic purpura semapv:MappingInversion -MONDO:0008556 thrombocytopenia, cyclic skos:exactMatch NANDO:2100192 Cyclic thrombocytopenia semapv:MappingInversion -MONDO:0007954 obsolete May-Hegglin anomaly skos:exactMatch NANDO:2100193 May-Hegglin anomaly semapv:MappingInversion -MONDO:0005029 essential thrombocythemia skos:exactMatch NANDO:2100194 Essential thrombocythemia semapv:MappingInversion -MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency skos:exactMatch NANDO:2100197 Protein C deficiency semapv:MappingInversion -MONDO:0002304 protein S deficiency skos:exactMatch NANDO:2100198 Protein S deficiency semapv:MappingInversion -MONDO:0044903 myelofibrosis skos:exactMatch NANDO:2100200 Myelofibrosis semapv:MappingInversion -MONDO:0015909 aplastic anemia skos:exactMatch NANDO:2100201 Aplastic anemia semapv:MappingInversion -MONDO:0005046 immune system disorder skos:exactMatch NANDO:2100202 Immune system disease semapv:MappingInversion -MONDO:0015131 combined immunodeficiency skos:exactMatch NANDO:2100203 Combined immunodeficiency semapv:MappingInversion -MONDO:0018035 obsolete syndrome with combined immunodeficiency skos:exactMatch NANDO:2100203 Combined immunodeficiency semapv:MappingInversion -MONDO:0003778 inborn error of immunity skos:exactMatch NANDO:2100204 Immunodeficiency semapv:MappingInversion -MONDO:0021094 immunodeficiency disease skos:exactMatch NANDO:2100204 Immunodeficiency semapv:MappingInversion -MONDO:0012268 AIDS skos:exactMatch NANDO:2100212 Acquired immune deficiency syndrome semapv:MappingInversion -MONDO:0020547 chronic graft versus host disease skos:exactMatch NANDO:2100213 Chronic graft-versus-host disease semapv:MappingInversion -MONDO:0019056 neuromuscular disease skos:exactMatch NANDO:2100214 Neuromuscular disease semapv:MappingInversion -MONDO:0017069 spina bifida cystica skos:exactMatch NANDO:2100215 Myelomeningocele semapv:MappingInversion -MONDO:0019773 myelomeningocele skos:exactMatch NANDO:2100215 Myelomeningocele semapv:MappingInversion -MONDO:0042727 sacrococcygeal teratoma skos:exactMatch NANDO:2100216 Sacrococcygeal teratoma semapv:MappingInversion -MONDO:0016054 cerebral malformation skos:exactMatch NANDO:2100217 Brain malformation semapv:MappingInversion -MONDO:0015369 Joubert syndrome and related disorders skos:exactMatch NANDO:2100218 Joubert syndrome related disorders semapv:MappingInversion -MONDO:0010726 Rett syndrome skos:exactMatch NANDO:2100219 Rett syndrome semapv:MappingInversion -MONDO:0042983 neurocutaneous syndrome skos:exactMatch NANDO:2100220 Neurocutaneous syndrome semapv:MappingInversion -MONDO:0015333 progeroid syndrome skos:exactMatch NANDO:2100221 Progeroid syndromes semapv:MappingInversion -MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:exactMatch NANDO:2100223 ATR-X syndrome semapv:MappingInversion -MONDO:0010383 fragile X syndrome skos:exactMatch NANDO:2100224 Fragile X syndrome semapv:MappingInversion -MONDO:0000456 cerebral creatine deficiency syndrome skos:exactMatch NANDO:2100226 Cerebral creatine deficiency syndromes semapv:MappingInversion -MONDO:0015469 craniosynostosis skos:exactMatch NANDO:2100227 Craniosynostosis semapv:MappingInversion -MONDO:0016820 Moyamoya disease skos:exactMatch NANDO:2100228 Moyamoya disease semapv:MappingInversion -MONDO:0007154 arteriovenous malformations of the brain skos:exactMatch NANDO:2100229 Cerebral arteriovenous malformation semapv:MappingInversion -MONDO:0001516 spinal muscular atrophy skos:exactMatch NANDO:2100231 Spinal muscular atrophy semapv:MappingInversion -MONDO:0019079 proximal spinal muscular atrophy skos:exactMatch NANDO:2100231 Spinal muscular atrophy semapv:MappingInversion -MONDO:0020121 muscular dystrophy skos:exactMatch NANDO:2100233 Muscular dystrophy semapv:MappingInversion -MONDO:0019952 congenital myopathy skos:exactMatch NANDO:2100234 Congenital myopathy semapv:MappingInversion -MONDO:0009717 Schwartz-Jampel syndrome skos:exactMatch NANDO:2100235 Schwartz-Jampel syndrome semapv:MappingInversion -MONDO:0020074 progressive myoclonus epilepsy skos:exactMatch NANDO:2100237 Progressive myoclonus epilepsy semapv:MappingInversion -MONDO:0000437 cerebellar ataxia skos:exactMatch NANDO:2100238 Spinocerebellar degeneration semapv:MappingInversion -MONDO:0016241 alternating hemiplegia of childhood skos:exactMatch NANDO:2100239 Alternating hemiplegia of childhood semapv:MappingInversion -MONDO:0007492 early-onset generalized limb-onset dystonia skos:exactMatch NANDO:2100240 Dystonia musculorum deformans semapv:MappingInversion -MONDO:0018307 neurodegeneration with brain iron accumulation skos:exactMatch NANDO:2100241 Neurodegeneration with brain iron accumulation semapv:MappingInversion -MONDO:0015518 infantile bilateral striatal necrosis skos:exactMatch NANDO:2100242 Infantile bilateral striatal necrosis semapv:MappingInversion -MONDO:0018866 Aicardi-Goutieres syndrome skos:exactMatch NANDO:2100244 Aicardi-Goutières Syndrome semapv:MappingInversion -MONDO:0009835 subacute sclerosing panencephalitis skos:exactMatch NANDO:2100245 Subacute sclerosing panencephalitis semapv:MappingInversion -MONDO:0016019 Rasmussen subacute encephalitis skos:exactMatch NANDO:2100246 Rasmussen's encephalitis semapv:MappingInversion -MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion skos:exactMatch NANDO:2100247 Acute encephalopathy with biphasic seizures and late reduced diffusion semapv:MappingInversion -MONDO:0020640 autoimmune encephalitis skos:exactMatch NANDO:2100248 Autoimmune encephalitis semapv:MappingInversion -MONDO:0015584 febrile infection-related epilepsy syndrome skos:exactMatch NANDO:2100249 Acute encephalitis with refractory, repetitive partial seizures semapv:MappingInversion -MONDO:0005301 multiple sclerosis skos:exactMatch NANDO:2100250 Multiple sclerosis semapv:MappingInversion -MONDO:0002335 chronic inflammatory demyelinating polyneuritis skos:exactMatch NANDO:2100251 Chronic inflammatory demyelinating polyneuropathy semapv:MappingInversion -MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy skos:exactMatch NANDO:2100251 Chronic inflammatory demyelinating polyneuropathy semapv:MappingInversion -MONDO:0007691 Guillain-Barre syndrome, familial skos:exactMatch NANDO:2100251 Chronic inflammatory demyelinating polyneuropathy semapv:MappingInversion -MONDO:0009688 myasthenia gravis skos:exactMatch NANDO:2100252 Myasthenia gravis semapv:MappingInversion -MONDO:0009635 microvillus inclusion disease skos:exactMatch NANDO:2100255 Microvillus inclusion disease semapv:MappingInversion -MONDO:0018178 intestinal lymphangiectasia skos:exactMatch NANDO:2100256 Intestinal lymphangiectasia semapv:MappingInversion -MONDO:0000147 polyposis skos:exactMatch NANDO:2100257 Polyposis semapv:MappingInversion -MONDO:0010778 cyclic vomiting syndrome skos:exactMatch NANDO:2100258 Cyclic vomiting syndrome semapv:MappingInversion -MONDO:0005265 inflammatory bowel disease skos:exactMatch NANDO:2100259 Inflammatory bowel disease semapv:MappingInversion -MONDO:0018766 chronic enteropathy associated with SLCO2A1 gene skos:exactMatch NANDO:2100261 Chronic nonspecific multiple ulcers of the small intestine semapv:MappingInversion -MONDO:0016264 autoimmune hepatitis skos:exactMatch NANDO:2100264 Autoimmune hepatitis semapv:MappingInversion -MONDO:0013433 primary sclerosing cholangitis skos:exactMatch NANDO:2100265 Primary sclerosing cholangitis semapv:MappingInversion -MONDO:0018646 sclerosing cholangitis skos:exactMatch NANDO:2100265 Primary sclerosing cholangitis semapv:MappingInversion -MONDO:0018840 isolated congenital hepatic fibrosis skos:exactMatch NANDO:2100267 Congenital hepatic fibrosis semapv:MappingInversion -MONDO:0005155 cirrhosis of liver skos:exactMatch NANDO:2100268 Liver cirrhosis semapv:MappingInversion -MONDO:0009044 Crigler-Najjar syndrome skos:exactMatch NANDO:2100272 Crigler-Najjar syndrome semapv:MappingInversion -MONDO:0015183 short bowel syndrome skos:exactMatch NANDO:2100274 Short bowel syndrome semapv:MappingInversion -MONDO:0019040 chromosomal disorder skos:exactMatch NANDO:2100279 Chromosome abnormality semapv:MappingInversion -MONDO:0019040 chromosomal disorder skos:exactMatch NANDO:2100280 Chromosome abnormality semapv:MappingInversion -MONDO:0005093 skin disorder skos:exactMatch NANDO:2100281 Skin disease semapv:MappingInversion -MONDO:0015947 inherited ichthyosis skos:exactMatch NANDO:2100283 Congenital ichthyosis semapv:MappingInversion -MONDO:0006541 epidermolysis bullosa skos:exactMatch NANDO:2100284 Epidermolysis bullosa semapv:MappingInversion -MONDO:0022205 pustular psoriasis skos:exactMatch NANDO:2100285 Pustular psoriasis semapv:MappingInversion -MONDO:0019600 xeroderma pigmentosum skos:exactMatch NANDO:2100286 Xeroderma pigmentosum semapv:MappingInversion -MONDO:0018975 neurofibromatosis type 1 skos:exactMatch NANDO:2100287 von Recklinghausen's disease semapv:MappingInversion -MONDO:0009799 obsolete pachydermoperiostosis skos:exactMatch NANDO:2100288 Pachydermoperiostosis semapv:MappingInversion -MONDO:0016620 primary hypertrophic osteoarthropathy skos:exactMatch NANDO:2100288 Pachydermoperiostosis semapv:MappingInversion -MONDO:0018229 Stevens-Johnson syndrome skos:exactMatch NANDO:2100290 Stevens-Johnson syndrome semapv:MappingInversion -MONDO:0005381 bone disorder skos:exactMatch NANDO:2100291 Bone disease semapv:MappingInversion -MONDO:0005381 bone disorder skos:exactMatch NANDO:2100293 Bone disease semapv:MappingInversion -MONDO:0005385 vascular disorder skos:exactMatch NANDO:2100294 Vascular disease semapv:MappingInversion -MONDO:0024291 vascular malformation skos:exactMatch NANDO:2100295 Vascular malformation semapv:MappingInversion -MONDO:0019180 hereditary hemorrhagic telangiectasia skos:exactMatch NANDO:2100296 Hereditary hemorrhagic telangiectasia semapv:MappingInversion -MONDO:0007708 Kasabach-Merritt syndrome skos:exactMatch NANDO:2100297 Kasabach-Merritt syndrome semapv:MappingInversion -MONDO:0020511 precursor B-cell acute lymphoblastic leukemia skos:exactMatch NANDO:2200001 B-cell precursor lymphoblastic leukemia semapv:MappingInversion -MONDO:0000872 B-cell childhood acute lymphoblastic leukemia skos:exactMatch NANDO:2200002 Mature B-cell lymphoblastic leukemia semapv:MappingInversion -MONDO:0004963 T-cell acute lymphoblastic leukemia skos:exactMatch NANDO:2200003 T-cell lymphoblastic leukemia semapv:MappingInversion -MONDO:0005223 acute myeloid leukemia with minimal differentiation skos:exactMatch NANDO:2200004 Acute myeloid leukemia with minimal differentiation semapv:MappingInversion -MONDO:0005224 acute myeloblastic leukemia without maturation skos:exactMatch NANDO:2200005 Acute myeloid leukemia without maturation semapv:MappingInversion -MONDO:0020320 acute myeloblastic leukemia with maturation skos:exactMatch NANDO:2200006 Acute myeloid leukemia with maturation semapv:MappingInversion -MONDO:0012883 acute promyelocytic leukemia skos:exactMatch NANDO:2200007 Acute promyelocytic leukemia semapv:MappingInversion -MONDO:0000875 adult acute monocytic leukemia skos:exactMatch NANDO:2200008 Acute monocytic leukemia semapv:MappingInversion -MONDO:0007896 acute monocytic leukemia skos:exactMatch NANDO:2200008 Acute monocytic leukemia semapv:MappingInversion -MONDO:0000875 adult acute monocytic leukemia skos:exactMatch NANDO:2200009 Acute monocytic leukemia semapv:MappingInversion -MONDO:0007896 acute monocytic leukemia skos:exactMatch NANDO:2200009 Acute monocytic leukemia semapv:MappingInversion -MONDO:0017858 acute erythroid leukemia skos:exactMatch NANDO:2200010 Acute erythremia semapv:MappingInversion -MONDO:0018872 acute megakaryoblastic leukemia skos:exactMatch NANDO:2200011 Acute megakaryoblastic leukemia semapv:MappingInversion -MONDO:0019470 aggressive NK-cell leukemia skos:exactMatch NANDO:2200012 NK cell leukemia semapv:MappingInversion -MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive skos:exactMatch NANDO:2200013 Chronic myeloid leukemia semapv:MappingInversion -MONDO:0011908 juvenile myelomonocytic leukemia skos:exactMatch NANDO:2200014 Chronic myelomonocytic leukemia semapv:MappingInversion -MONDO:0020311 chronic myelomonocytic leukemia skos:exactMatch NANDO:2200014 Chronic myelomonocytic leukemia semapv:MappingInversion -MONDO:0011908 juvenile myelomonocytic leukemia skos:exactMatch NANDO:2200015 Juvenile myelomonocytic leukemia semapv:MappingInversion -MONDO:0019460 acute leukemia of ambiguous lineage skos:exactMatch NANDO:2200017 Acute undifferentiated leukemia semapv:MappingInversion -MONDO:0020321 acute undifferentiated leukemia skos:exactMatch NANDO:2200017 Acute undifferentiated leukemia semapv:MappingInversion -MONDO:0019460 acute leukemia of ambiguous lineage skos:exactMatch NANDO:2200018 Mixed phenotype acute leukemia semapv:MappingInversion -MONDO:0020743 mixed phenotype acute leukemia skos:exactMatch NANDO:2200018 Mixed phenotype acute leukemia semapv:MappingInversion -MONDO:0018881 myelodysplastic syndrome skos:exactMatch NANDO:2200019 Myelodysplastic syndrome semapv:MappingInversion -MONDO:0044873 childhood myelodysplastic syndrome skos:exactMatch NANDO:2200019 Myelodysplastic syndrome semapv:MappingInversion -MONDO:0015759 B-cell non-Hodgkin lymphoma skos:exactMatch NANDO:2200020 Mature B-cell lymphoma semapv:MappingInversion -MONDO:0020325 anaplastic large cell lymphoma skos:exactMatch NANDO:2200021 Anaplastic large cell lymphoma semapv:MappingInversion -MONDO:0020511 precursor B-cell acute lymphoblastic leukemia skos:exactMatch NANDO:2200022 Precursor B lymphoblastic lymphoma semapv:MappingInversion -MONDO:0044917 T-lymphoblastic lymphoma skos:exactMatch NANDO:2200023 Precursor T lymphoblastic lymphoma semapv:MappingInversion -MONDO:0004952 Hodgkins lymphoma skos:exactMatch NANDO:2200024 Hodgkin lymphoma semapv:MappingInversion -MONDO:0019472 extranodal nasal NK/T cell lymphoma skos:exactMatch NANDO:2200027 Extranodal NK/T-cell lymphoma, nasal type semapv:MappingInversion -MONDO:0004964 peripheral T-cell lymphoma, not otherwise specified skos:exactMatch NANDO:2200028 Peripheral T-cell lymphoma, not otherwise specified semapv:MappingInversion -MONDO:0004977 angioimmunoblastic T-cell lymphoma skos:exactMatch NANDO:2200029 Angioimmunoblastic T-cell lymphoma semapv:MappingInversion -MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma skos:exactMatch NANDO:2200030 Sucutaneous panniculitis-like T-cell lymphoma semapv:MappingInversion -MONDO:0017025 Langerhans cell histiocytosis specific to childhood skos:exactMatch NANDO:2200031 Langerhans cell histiocytosis semapv:MappingInversion -MONDO:0017029 Langerhans cell histiocytosis specific to adulthood skos:exactMatch NANDO:2200031 Langerhans cell histiocytosis semapv:MappingInversion -MONDO:0018310 Langerhans cell histiocytosis skos:exactMatch NANDO:2200031 Langerhans cell histiocytosis semapv:MappingInversion -MONDO:0015540 hemophagocytic syndrome skos:exactMatch NANDO:2200032 Hemophagocytic lymphohistiocytosis semapv:MappingInversion -MONDO:0005764 follicular dendritic cell sarcoma skos:exactMatch NANDO:2200034 Follicular dendritic cell sarcoma semapv:MappingInversion -MONDO:0005813 interdigitating dendritic cell sarcoma skos:exactMatch NANDO:2200035 Interdigitating dendritic cell sarcoma semapv:MappingInversion -MONDO:0019480 Langerhans cell sarcoma skos:exactMatch NANDO:2200036 Langerhans cell sarcoma semapv:MappingInversion -MONDO:0015534 juvenile xanthogranuloma skos:exactMatch NANDO:2200037 Juvenile xanthogranuloma semapv:MappingInversion -MONDO:0018153 Erdheim-Chester disease skos:exactMatch NANDO:2200038 Erdheim-Chester disease semapv:MappingInversion -MONDO:0006412 sinus histiocytosis with massive lymphadenopathy skos:exactMatch NANDO:2200039 Rosai-Dorfman disease semapv:MappingInversion -MONDO:0044354 obsolete Rosai-Dorfman disease skos:exactMatch NANDO:2200039 Rosai-Dorfman disease semapv:MappingInversion -MONDO:0005072 neuroblastoma skos:exactMatch NANDO:2200040 Neuroblastoma semapv:MappingInversion -MONDO:0005035 ganglioneuroblastoma skos:exactMatch NANDO:2200041 Ganglioneuroblastoma semapv:MappingInversion -MONDO:0008380 retinoblastoma skos:exactMatch NANDO:2200042 Retinoblastoma semapv:MappingInversion -MONDO:0019004 kidney Wilms tumor skos:exactMatch NANDO:2200043 Wilms tumour semapv:MappingInversion -MONDO:0005006 clear cell sarcoma of kidney skos:exactMatch NANDO:2200044 Clear cell sarcoma of the kidney semapv:MappingInversion -MONDO:0005086 renal cell carcinoma skos:exactMatch NANDO:2200045 Renal cell carcinoma semapv:MappingInversion -MONDO:0005549 renal cell adenocarcinoma skos:exactMatch NANDO:2200045 Renal cell carcinoma semapv:MappingInversion -MONDO:0018666 hepatoblastoma skos:exactMatch NANDO:2200046 Hepatoblastoma semapv:MappingInversion -MONDO:0007256 hepatocellular carcinoma skos:exactMatch NANDO:2200047 Hepatocellular carcinoma semapv:MappingInversion -MONDO:0002623 pediatric osteosarcoma skos:exactMatch NANDO:2200048 Osteosarcoma semapv:MappingInversion -MONDO:0009807 osteosarcoma skos:exactMatch NANDO:2200048 Osteosarcoma semapv:MappingInversion -MONDO:0005508 hereditary multiple osteochondromas skos:exactMatch NANDO:2200049 Osteochondromatosis semapv:MappingInversion -MONDO:0008145 Ollier disease skos:exactMatch NANDO:2200049 Osteochondromatosis semapv:MappingInversion -MONDO:0008977 chondrosarcoma skos:exactMatch NANDO:2200050 Chondrosarcoma semapv:MappingInversion -MONDO:0004997 chondroblastoma skos:exactMatch NANDO:2200051 Chondroblastoma semapv:MappingInversion -MONDO:0006287 malignancy in giant cell tumor of bone skos:exactMatch NANDO:2200052 Malignancy in giant cell tumour of bone semapv:MappingInversion -MONDO:0012817 Ewing sarcoma skos:exactMatch NANDO:2200053 Ewing's sarcoma semapv:MappingInversion -MONDO:0018271 peripheral primitive neuroectodermal tumor skos:exactMatch NANDO:2200054 Primitive neuroectodermal tumors semapv:MappingInversion -MONDO:0018271 peripheral primitive neuroectodermal tumor skos:exactMatch NANDO:2200055 Peripheral primitive neuroectodermal tumors semapv:MappingInversion -MONDO:0005212 rhabdomyosarcoma skos:exactMatch NANDO:2200056 Rhabdomyosarcoma semapv:MappingInversion -MONDO:0002728 rhabdoid tumor skos:exactMatch NANDO:2200057 Malignant rhabdoid tumour semapv:MappingInversion -MONDO:0005102 undifferentiated (embryonal) sarcoma skos:exactMatch NANDO:2200058 Undifferentiated sarcoma semapv:MappingInversion -MONDO:0019373 desmoplastic small round cell tumor skos:exactMatch NANDO:2200059 Desmoplastic small round cell tumors semapv:MappingInversion -MONDO:0002676 adult fibrosarcoma skos:exactMatch NANDO:2200060 Fibrosarcoma semapv:MappingInversion -MONDO:0002678 pediatric fibrosarcoma skos:exactMatch NANDO:2200060 Fibrosarcoma semapv:MappingInversion -MONDO:0005164 fibrosarcoma skos:exactMatch NANDO:2200060 Fibrosarcoma semapv:MappingInversion -MONDO:0010434 synovial sarcoma skos:exactMatch NANDO:2200061 Synovial sarcoma semapv:MappingInversion -MONDO:0002926 clear cell sarcoma skos:exactMatch NANDO:2200062 Clear cell sarcoma semapv:MappingInversion -MONDO:0011655 alveolar soft part sarcoma skos:exactMatch NANDO:2200063 Alveolar soft part sarcoma semapv:MappingInversion -MONDO:0005058 leiomyosarcoma skos:exactMatch NANDO:2200064 Leiomyosarcoma semapv:MappingInversion -MONDO:0003585 adult liposarcoma skos:exactMatch NANDO:2200065 Liposarcoma semapv:MappingInversion -MONDO:0003587 pediatric liposarcoma skos:exactMatch NANDO:2200065 Liposarcoma semapv:MappingInversion -MONDO:0005060 liposarcoma skos:exactMatch NANDO:2200065 Liposarcoma semapv:MappingInversion -MONDO:0003002 dysgerminoma skos:exactMatch NANDO:2200066 Dysgerminoma semapv:MappingInversion -MONDO:0005440 embryonal carcinoma skos:exactMatch NANDO:2200067 Embryonal carcinoma semapv:MappingInversion -MONDO:0015863 polyembryoma skos:exactMatch NANDO:2200068 Polyembryoma semapv:MappingInversion -MONDO:0003759 childhood ovarian yolk sac tumor skos:exactMatch NANDO:2200069 Yolk sac tumour semapv:MappingInversion -MONDO:0005744 yolk sac tumor skos:exactMatch NANDO:2200069 Yolk sac tumour semapv:MappingInversion -MONDO:0005207 choriocarcinoma skos:exactMatch NANDO:2200070 Choriocarcinoma semapv:MappingInversion -MONDO:0015864 mixed germ cell tumor skos:exactMatch NANDO:2200071 Mixed germ cell tumour semapv:MappingInversion -MONDO:0006055 sex cord-stromal tumor skos:exactMatch NANDO:2200072 Sex-cord stromal tumour semapv:MappingInversion -MONDO:0006639 adrenal cortex carcinoma skos:exactMatch NANDO:2200073 Adrenocortical carcinoma semapv:MappingInversion -MONDO:0002108 thyroid cancer skos:exactMatch NANDO:2200074 Thyroid cancer semapv:MappingInversion -MONDO:0015075 thyroid gland carcinoma skos:exactMatch NANDO:2200074 Thyroid cancer semapv:MappingInversion -MONDO:0000521 salivary gland carcinoma skos:exactMatch NANDO:2200076 Salivary grand carcinoma semapv:MappingInversion -MONDO:0005105 melanoma skos:exactMatch NANDO:2200077 Malignant melanoma semapv:MappingInversion -MONDO:0004974 adrenal gland pheochromocytoma skos:exactMatch NANDO:2200078 Pheochromocytoma semapv:MappingInversion -MONDO:0006451 thymic carcinoma skos:exactMatch NANDO:2200079 Malignant thymoma semapv:MappingInversion -MONDO:0011014 pleuropulmonary blastoma skos:exactMatch NANDO:2200080 Pleuropulmonaryblastoma semapv:MappingInversion -MONDO:0002807 bronchial neoplasm skos:exactMatch NANDO:2200081 Bronchial tumour semapv:MappingInversion -MONDO:0019035 pancreatoblastoma skos:exactMatch NANDO:2200082 Pancreatoblastoma semapv:MappingInversion -MONDO:0004000 childhood pilocytic astrocytoma skos:exactMatch NANDO:2200084 Pilocytic astrocytoma semapv:MappingInversion -MONDO:0016691 pilocytic astrocytoma skos:exactMatch NANDO:2200084 Pilocytic astrocytoma semapv:MappingInversion -MONDO:0016686 diffuse astrocytoma skos:exactMatch NANDO:2200085 Diffuse astrocytoma semapv:MappingInversion -MONDO:0016684 anaplastic astrocytoma skos:exactMatch NANDO:2200086 Anaplastic astrocytoma semapv:MappingInversion -MONDO:0018177 glioblastoma skos:exactMatch NANDO:2200087 Glioblastoma semapv:MappingInversion -MONDO:0020690 adult glioblastoma skos:exactMatch NANDO:2200087 Glioblastoma semapv:MappingInversion -MONDO:0016698 ependymoma skos:exactMatch NANDO:2200088 Ependymoma semapv:MappingInversion -MONDO:0002540 childhood oligodendroglioma skos:exactMatch NANDO:2200089 Oligodendroglioma semapv:MappingInversion -MONDO:0002543 adult oligodendroglioma skos:exactMatch NANDO:2200089 Oligodendroglioma semapv:MappingInversion -MONDO:0016695 oligodendroglioma skos:exactMatch NANDO:2200089 Oligodendroglioma semapv:MappingInversion -MONDO:0002794 adult medulloblastoma skos:exactMatch NANDO:2200090 Medulloblastoma semapv:MappingInversion -MONDO:0002797 childhood medulloblastoma skos:exactMatch NANDO:2200090 Medulloblastoma semapv:MappingInversion -MONDO:0007959 medulloblastoma skos:exactMatch NANDO:2200090 Medulloblastoma semapv:MappingInversion -MONDO:0018907 craniopharyngioma skos:exactMatch NANDO:2200091 Craniopharyngioma semapv:MappingInversion -MONDO:0016723 pineocytoma skos:exactMatch NANDO:2200092 Pineocytoma semapv:MappingInversion -MONDO:0009837 choroid plexus papilloma skos:exactMatch NANDO:2200093 Choroid plexus papilloma semapv:MappingInversion -MONDO:0003057 pediatric meningioma skos:exactMatch NANDO:2200094 Meningioma semapv:MappingInversion -MONDO:0016642 meningioma skos:exactMatch NANDO:2200094 Meningioma semapv:MappingInversion -MONDO:0006373 pituitary gland adenoma skos:exactMatch NANDO:2200095 Pituitary adenoma semapv:MappingInversion -MONDO:0016733 ganglioglioma skos:exactMatch NANDO:2200096 Ganglioglioma semapv:MappingInversion -MONDO:0016730 gangliocytoma skos:exactMatch NANDO:2200097 Gangliocytoma semapv:MappingInversion -MONDO:0008978 chordoma skos:exactMatch NANDO:2200098 Chordoma semapv:MappingInversion -MONDO:0000640 central nervous system primitive neuroectodermal neoplasm skos:exactMatch NANDO:2200099 Primitive neuroectodermal tumour of the central nervous system semapv:MappingInversion -MONDO:0000640 central nervous system primitive neuroectodermal neoplasm skos:exactMatch NANDO:2200100 Primitive neuroectodermal tumour of the central nervous system semapv:MappingInversion -MONDO:0020560 atypical teratoid rhabdoid tumor skos:exactMatch NANDO:2200101 Atypical teratoid, rhabdoid tumour semapv:MappingInversion -MONDO:0017827 malignant peripheral nerve sheath tumor skos:exactMatch NANDO:2200102 Malignant neurinoma semapv:MappingInversion -MONDO:0002546 schwannoma skos:exactMatch NANDO:2200103 Neurinoma semapv:MappingInversion -MONDO:0002718 central nervous system teratoma skos:exactMatch NANDO:2200104 Teratoma of the central nervous system semapv:MappingInversion -MONDO:0003517 mature teratoma skos:exactMatch NANDO:2200105 Mature teratoma semapv:MappingInversion -MONDO:0024746 immature teratoma skos:exactMatch NANDO:2200106 Immature teratoma semapv:MappingInversion -MONDO:0006444 teratoma with malignant transformation skos:exactMatch NANDO:2200107 Teratoma with malignant transformation semapv:MappingInversion -MONDO:0004218 childhood germ cell brain tumor skos:exactMatch NANDO:2200108 Intracranial germ cell tumour semapv:MappingInversion -MONDO:0009732 congenital nephrotic syndrome, Finnish type skos:exactMatch NANDO:2200110 Congenital nephrotic syndrome of the Finnish type semapv:MappingInversion -MONDO:0019654 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis skos:exactMatch NANDO:2200111 Diffuse mesangial sclerosis semapv:MappingInversion -MONDO:0006835 lipoid nephrosis skos:exactMatch NANDO:2200112 Minimal change nephrotic syndrome semapv:MappingInversion -MONDO:0005363 inherited focal segmental glomerulosclerosis skos:exactMatch NANDO:2200113 Focal segmental glomerulosclerosis semapv:MappingInversion -MONDO:0005376 membranous glomerulonephritis skos:exactMatch NANDO:2200114 Membranous nephropathy semapv:MappingInversion -MONDO:0008682 Denys-Drash syndrome skos:exactMatch NANDO:2200116 Denys-Drash syndrome semapv:MappingInversion -MONDO:0012184 Pierson syndrome skos:exactMatch NANDO:2200117 Pierson syndrome semapv:MappingInversion -MONDO:0020022 central nervous system malformation skos:exactMatch NANDO:2200118 Central nervous system malformation syndrome semapv:MappingInversion -MONDO:0009182 junctional epidermolysis bullosa Herlitz type skos:exactMatch NANDO:2200119 Herlitz junctional epidermolysis bullosa semapv:MappingInversion -MONDO:0009627 Galloway-Mowat syndrome skos:exactMatch NANDO:2200120 Galloway-Mowat syndrome semapv:MappingInversion -MONDO:0005342 IgA glomerulonephritis skos:exactMatch NANDO:2200121 IgA nephropathy semapv:MappingInversion -MONDO:0003139 mesangial proliferative glomerulonephritis skos:exactMatch NANDO:2200122 Mesangial proliferative glomerulonephritis semapv:MappingInversion -MONDO:0002461 membranoproliferative glomerulonephritis skos:exactMatch NANDO:2200123 Membranoproliferative glomerulonephritis semapv:MappingInversion -MONDO:0018904 primary membranoproliferative glomerulonephritis skos:exactMatch NANDO:2200123 Membranoproliferative glomerulonephritis semapv:MappingInversion -MONDO:0009303 anti-glomerular basement membrane disease skos:exactMatch NANDO:2200125 Goodpasture syndrome semapv:MappingInversion -MONDO:0018965 Alport syndrome skos:exactMatch NANDO:2200126 Alport syndrome semapv:MappingInversion -MONDO:0007954 obsolete May-Hegglin anomaly skos:exactMatch NANDO:2200127 Epstein syndrome semapv:MappingInversion -MONDO:0005556 lupus nephritis skos:exactMatch NANDO:2200128 Lupus nephritis semapv:MappingInversion -MONDO:0016244 atypical hemolytic-uremic syndrome skos:exactMatch NANDO:2200131 Atypical hemolytic uremic syndrome semapv:MappingInversion -MONDO:0008061 nail-patella syndrome skos:exactMatch NANDO:2200132 Nail-patella syndrome semapv:MappingInversion -MONDO:0007671 fibronectin glomerulopathy skos:exactMatch NANDO:2200133 Glomerulopathy with fibronectin deposits, fibronectin nephropathy semapv:MappingInversion -MONDO:0012725 lipoprotein glomerulopathy skos:exactMatch NANDO:2200134 Lipoprotein glomerulopathy semapv:MappingInversion -MONDO:0001085 interstitial nephritis skos:exactMatch NANDO:2200136 Tubulointerstitial nephritis semapv:MappingInversion -MONDO:0001110 chronic pyelonephritis skos:exactMatch NANDO:2200137 Chronic pyelonephritis semapv:MappingInversion -MONDO:0007099 familial visceral amyloidosis skos:exactMatch NANDO:2200138 Amyloid nephropathy semapv:MappingInversion -MONDO:0019065 amyloidosis skos:exactMatch NANDO:2200138 Amyloid nephropathy semapv:MappingInversion -MONDO:0000608 familial juvenile hyperuricemic nephropathy skos:exactMatch NANDO:2200139 Familial juvenile hyperuricemic nephropathy semapv:MappingInversion -MONDO:0009728 nephronophthisis 1 skos:exactMatch NANDO:2200140 Nephronophthisis semapv:MappingInversion -MONDO:0019005 nephronophthisis skos:exactMatch NANDO:2200140 Nephronophthisis semapv:MappingInversion -MONDO:0001105 renal hypertension skos:exactMatch NANDO:2200141 Renovascular hypertension semapv:MappingInversion -MONDO:0006947 renovascular hypertension skos:exactMatch NANDO:2200141 Renovascular hypertension semapv:MappingInversion -MONDO:0001909 renal tubular acidosis skos:exactMatch NANDO:2200144 Renal tubular acidosis semapv:MappingInversion -MONDO:0009904 Gitelman syndrome skos:exactMatch NANDO:2200145 Gitelman syndrome semapv:MappingInversion -MONDO:0015231 Bartter syndrome skos:exactMatch NANDO:2200146 Bartter syndrome semapv:MappingInversion -MONDO:0020642 polycystic kidney disease skos:exactMatch NANDO:2200152 Polycystic kidney disease semapv:MappingInversion -MONDO:0004691 autosomal dominant polycystic kidney disease skos:exactMatch NANDO:2200153 Autosomal dominant polycystic kidney disease semapv:MappingInversion -MONDO:0009889 autosomal recessive polycystic kidney disease skos:exactMatch NANDO:2200154 Autosomal recessive polycystic kidney disease semapv:MappingInversion -MONDO:0019637 renal hypoplasia skos:exactMatch NANDO:2200155 Hypoplastic kidney semapv:MappingInversion -MONDO:0018470 renal agenesis skos:exactMatch NANDO:2200156 Renal aplasia semapv:MappingInversion -MONDO:0001558 Potter sequence skos:exactMatch NANDO:2200157 Potter syndrome semapv:MappingInversion -MONDO:0015988 multicystic dysplastic kidney skos:exactMatch NANDO:2200158 Multicystic dysplastic kidney semapv:MappingInversion -MONDO:0016407 oligomeganephronia skos:exactMatch NANDO:2200159 Oligomeganephronia semapv:MappingInversion -MONDO:0019638 renal dysplasia skos:exactMatch NANDO:2200161 Renal dysplasia semapv:MappingInversion -MONDO:0019005 nephronophthisis skos:exactMatch NANDO:2200170 Medullary cystic kidney semapv:MappingInversion -MONDO:0019983 multiloculated renal cyst skos:exactMatch NANDO:2200171 Multilocular cysts of the kidney semapv:MappingInversion -MONDO:0002473 cystic kidney disease skos:exactMatch NANDO:2200172 Simple renal cyst semapv:MappingInversion -MONDO:0015268 medullary sponge kidney skos:exactMatch NANDO:2200173 Medullary sponge kidney semapv:MappingInversion -MONDO:0007741 congenital hydronephrosis skos:exactMatch NANDO:2200176 Ureteropelvic junction obstruction semapv:MappingInversion -MONDO:0019639 congenital megacalycosis skos:exactMatch NANDO:2200177 Megacalycosis semapv:MappingInversion -MONDO:0003330 urinary tract obstruction skos:exactMatch NANDO:2200178 Obstructive uropathy semapv:MappingInversion -MONDO:0006007 vesicoureteral reflux skos:exactMatch NANDO:2200179 Vesicoureteral reflux semapv:MappingInversion -MONDO:0008628 ureterocele skos:exactMatch NANDO:2200183 Ureteroceles semapv:MappingInversion -MONDO:0018960 congenital primary megaureter skos:exactMatch NANDO:2200184 Megaureter semapv:MappingInversion -MONDO:0007032 prune belly syndrome skos:exactMatch NANDO:2200185 Prune belly syndrome semapv:MappingInversion -MONDO:0001083 Fanconi renotubular syndrome skos:exactMatch NANDO:2200187 Fanconi syndrome semapv:MappingInversion -MONDO:0010645 oculocerebrorenal syndrome skos:exactMatch NANDO:2200188 Lowe syndrome semapv:MappingInversion -MONDO:0007879 larynx atresia skos:exactMatch NANDO:2200190 Laryngeal stenosis semapv:MappingInversion -MONDO:0015395 congenital subglottic stenosis skos:exactMatch NANDO:2200190 Laryngeal stenosis semapv:MappingInversion -MONDO:0002568 tracheal stenosis skos:exactMatch NANDO:2200194 Tracheal stenosis semapv:MappingInversion -MONDO:0019804 tracheomalacia skos:exactMatch NANDO:2200195 Tracheomalacia semapv:MappingInversion -MONDO:0010940 inherited susceptibility to asthma skos:exactMatch NANDO:2200197 Bronchial asthma semapv:MappingInversion -MONDO:0008852 obsolete congenital central hypoventilation syndrome skos:exactMatch NANDO:2200198 Congenital central hypoventilation syndrome semapv:MappingInversion -MONDO:0002429 idiopathic interstitial pneumonia skos:exactMatch NANDO:2200199 Idiopathic interstitial pneumonia semapv:MappingInversion -MONDO:0012580 hereditary pulmonary alveolar proteinosis skos:exactMatch NANDO:2200200 Congenital alveolar proteinosis semapv:MappingInversion -MONDO:0009928 pulmonary alveolar microlithiasis skos:exactMatch NANDO:2200202 Pulmonary alveolar microlithiasis semapv:MappingInversion -MONDO:0016575 primary ciliary dyskinesia skos:exactMatch NANDO:2200203 Primary ciliary dyskinesia semapv:MappingInversion -MONDO:0016575 primary ciliary dyskinesia skos:exactMatch NANDO:2200204 Kartagener syndrome semapv:MappingInversion -MONDO:0009061 cystic fibrosis skos:exactMatch NANDO:2200205 Cystic fibrosis semapv:MappingInversion -MONDO:0004822 bronchiectasis skos:exactMatch NANDO:2200206 Bronchiectasis semapv:MappingInversion -MONDO:0008346 pulmonary hemosiderosis skos:exactMatch NANDO:2200207 Idiopathic pulmonary hemosiderosis semapv:MappingInversion -MONDO:0015265 bronchiolitis obliterans syndrome skos:exactMatch NANDO:2200209 Bronchiolitis obliterans semapv:MappingInversion -MONDO:0005711 congenital diaphragmatic hernia skos:exactMatch NANDO:2200210 Congenital diaphragmatic hernia semapv:MappingInversion -MONDO:0001823 sick sinus syndrome skos:exactMatch NANDO:2200212 Sick sinus syndrome semapv:MappingInversion -MONDO:0001261 Mobitz type II atrioventricular block skos:exactMatch NANDO:2200213 Mobitz type II second degree atrioventricular block semapv:MappingInversion -MONDO:0000468 third-degree atrioventricular block skos:exactMatch NANDO:2200214 Complete atrio-ventricular block semapv:MappingInversion -MONDO:0009326 congenital heart block skos:exactMatch NANDO:2200214 Complete atrio-ventricular block semapv:MappingInversion -MONDO:0020803 obsolete bundle branch block skos:exactMatch NANDO:2200215 Bundle branch block semapv:MappingInversion -MONDO:0017990 catecholaminergic polymorphic ventricular tachycardia skos:exactMatch NANDO:2200216 Polymorphic ventricular premature beat semapv:MappingInversion -MONDO:0008685 Wolff-Parkinson-White syndrome skos:exactMatch NANDO:2200217 Supraventricular tachycardia due to WPW syndrome semapv:MappingInversion -MONDO:0005310 atrial flutter skos:exactMatch NANDO:2200218 Multiple atrial tachycardia semapv:MappingInversion -MONDO:0005479 atrial tachycardia skos:exactMatch NANDO:2200218 Multiple atrial tachycardia semapv:MappingInversion -MONDO:0017990 catecholaminergic polymorphic ventricular tachycardia skos:exactMatch NANDO:2200221 Catecholaminergic polymorphic ventricular tachycardia semapv:MappingInversion -MONDO:0005310 atrial flutter skos:exactMatch NANDO:2200225 Atrial flutter semapv:MappingInversion -MONDO:0004981 atrial fibrillation skos:exactMatch NANDO:2200226 Atrial fibrillation semapv:MappingInversion -MONDO:0000190 ventricular fibrillation skos:exactMatch NANDO:2200227 Ventricular fibrillation semapv:MappingInversion -MONDO:0002442 long QT syndrome skos:exactMatch NANDO:2200228 Long qt syndrome semapv:MappingInversion -MONDO:0019171 familial long QT syndrome skos:exactMatch NANDO:2200228 Long qt syndrome semapv:MappingInversion -MONDO:0005045 hypertrophic cardiomyopathy skos:exactMatch NANDO:2200229 Hypertrophic cardiomyopathy semapv:MappingInversion -MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy skos:exactMatch NANDO:2200230 Arrhythmogenic right ventricular cardiomyopathy or dysplasia semapv:MappingInversion -MONDO:0018901 left ventricular noncompaction skos:exactMatch NANDO:2200231 Non-compaction of the ventricle semapv:MappingInversion -MONDO:0005021 dilated cardiomyopathy skos:exactMatch NANDO:2200232 Dilated cardiomyopathy semapv:MappingInversion -MONDO:0005201 restrictive cardiomyopathy skos:exactMatch NANDO:2200233 Restrictive cardiomyopathy semapv:MappingInversion -MONDO:0006779 heart aneurysm skos:exactMatch NANDO:2200234 Aneurysm of ventricle semapv:MappingInversion -MONDO:0015677 cardiac diverticulum skos:exactMatch NANDO:2200234 Aneurysm of ventricle semapv:MappingInversion -MONDO:0009169 endocardial fibroelastosis skos:exactMatch NANDO:2200235 Endocardial fibroelastosis semapv:MappingInversion -MONDO:0021209 heart neoplasm skos:exactMatch NANDO:2200236 Cardiac tumor semapv:MappingInversion -MONDO:0006711 constrictive pericarditis skos:exactMatch NANDO:2200239 Constrictive pericarditis semapv:MappingInversion -MONDO:0000811 anomalous left coronary artery from the pulmonary artery skos:exactMatch NANDO:2200242 Abnormal origin of left coronary artery from pulmonary artery semapv:MappingInversion -MONDO:0006715 coronary stenosis skos:exactMatch NANDO:2200246 Stenosis or atresia of coronary artery semapv:MappingInversion -MONDO:0005068 myocardial infarction skos:exactMatch NANDO:2200248 Myocardial infarction semapv:MappingInversion -MONDO:0004933 hypoplastic left heart syndrome skos:exactMatch NANDO:2200249 Hypoplastic left heart syndrome semapv:MappingInversion -MONDO:0015451 univentricular heart skos:exactMatch NANDO:2200250 Single ventricle semapv:MappingInversion -MONDO:0011514 tricuspid atresia skos:exactMatch NANDO:2200251 Tricuspid atresia semapv:MappingInversion -MONDO:0008343 pulmonary atresia with ventricular septal defect skos:exactMatch NANDO:2200252 Pulmonary atresia with ventricular septal defect semapv:MappingInversion -MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome skos:exactMatch NANDO:2200253 Pulmonary atresia with intact ventricular septum semapv:MappingInversion -MONDO:0008542 tetralogy of fallot skos:exactMatch NANDO:2200254 Tetralogy of Fallot semapv:MappingInversion -MONDO:0018089 double outlet right ventricle skos:exactMatch NANDO:2200256 Double outlet right ventricle semapv:MappingInversion -MONDO:0018090 double outlet left ventricle skos:exactMatch NANDO:2200257 Double-outlet left ventricle semapv:MappingInversion -MONDO:0000153 transposition of the great arteries skos:exactMatch NANDO:2200258 Complete transposition of the great arteries semapv:MappingInversion -MONDO:0016301 congenitally corrected transposition of the great arteries skos:exactMatch NANDO:2200259 Congenitally corrected transposition of the great arteries semapv:MappingInversion -MONDO:0009144 Ebstein anomaly skos:exactMatch NANDO:2200260 Ebstein's anomaly semapv:MappingInversion -MONDO:0018072 persistent truncus arteriosus skos:exactMatch NANDO:2200261 Truncus arteriosus communis semapv:MappingInversion -MONDO:0021902 aortopulmonary window skos:exactMatch NANDO:2200262 Aorto-pulmonary window semapv:MappingInversion -MONDO:0015450 triatrial heart skos:exactMatch NANDO:2200263 Cor triatriatum semapv:MappingInversion -MONDO:0011827 patent ductus arteriosus skos:exactMatch NANDO:2200264 Patent ductus arteriosus semapv:MappingInversion -MONDO:0020434 atrial septal defect, ostium secundum type skos:exactMatch NANDO:2200266 Atrial septal defect, ostium secundum type semapv:MappingInversion -MONDO:0020439 patent foramen ovale skos:exactMatch NANDO:2200266 Atrial septal defect, ostium secundum type semapv:MappingInversion -MONDO:0020436 atrial septal defect, sinus venosus type skos:exactMatch NANDO:2200267 Atrial septal defect, sinus venosus type semapv:MappingInversion -MONDO:0015275 partial atrioventricular canal skos:exactMatch NANDO:2200268 Incomplete atrioventricular septal defect semapv:MappingInversion -MONDO:0015273 complete atrioventricular canal skos:exactMatch NANDO:2200269 Complete atrioventricular septal defect semapv:MappingInversion -MONDO:0002070 ventricular septal defect skos:exactMatch NANDO:2200270 Ventricular septal defect semapv:MappingInversion -MONDO:0007130 congenital total pulmonary venous return anomaly skos:exactMatch NANDO:2200271 Total anomalous pulmonary venous connection semapv:MappingInversion -MONDO:0020453 congenital partial pulmonary venous return anomaly skos:exactMatch NANDO:2200272 Partial anomalous pulmonary venous connection semapv:MappingInversion -MONDO:0017864 congenital pulmonary veins atresia or stenosis skos:exactMatch NANDO:2200273 Pulmonary venous obstruction semapv:MappingInversion -MONDO:0020428 congenital Gerbode defect skos:exactMatch NANDO:2200274 Left ventricular-right atrial communication semapv:MappingInversion -MONDO:0016581 conotruncal heart malformations skos:exactMatch NANDO:2200275 Double-chambered right ventricle semapv:MappingInversion -MONDO:0006935 pulmonary subvalvular stenosis skos:exactMatch NANDO:2200276 Subvalvular pulmonary stenosis semapv:MappingInversion -MONDO:0006987 subvalvular aortic stenosis skos:exactMatch NANDO:2200277 Subvalvular aortic stenosis semapv:MappingInversion -MONDO:0017870 supravalvular pulmonary stenosis skos:exactMatch NANDO:2200278 Supravalvular pulmonary stenosis semapv:MappingInversion -MONDO:0020064 pulmonary valve agenesis skos:exactMatch NANDO:2200280 Absent pulmonary valve semapv:MappingInversion -MONDO:0020391 pulmonary artery coming from the aorta skos:exactMatch NANDO:2200281 Origin of pulmonary artery from ascending aorta semapv:MappingInversion -MONDO:0020007 absence of the pulmonary artery skos:exactMatch NANDO:2200282 Unilateral absence of a pulmonary artery semapv:MappingInversion -MONDO:0007345 aorta coarctation skos:exactMatch NANDO:2200283 Coarctation of the aorta semapv:MappingInversion -MONDO:0007345 aorta coarctation skos:exactMatch NANDO:2200284 Coarctation complex semapv:MappingInversion -MONDO:0015446 atypical coarctation of aorta skos:exactMatch NANDO:2200284 Coarctation complex semapv:MappingInversion -MONDO:0008504 supravalvular aortic stenosis skos:exactMatch NANDO:2200285 Supravalvular aortic stenosis semapv:MappingInversion -MONDO:0008678 Williams syndrome skos:exactMatch NANDO:2200286 Williams syndrome semapv:MappingInversion -MONDO:0009010 aortic arch interruption skos:exactMatch NANDO:2200288 Interruption of aortic arch complex semapv:MappingInversion -MONDO:0020413 encircling double aortic arch skos:exactMatch NANDO:2200290 Double aortic arch disease semapv:MappingInversion -MONDO:0015197 aneurysm of sinus of Valsalva skos:exactMatch NANDO:2200293 Aneurysm of sinus valsalva semapv:MappingInversion -MONDO:0005160 aortic aneurysm skos:exactMatch NANDO:2200294 Aortic aneurysm semapv:MappingInversion -MONDO:0009930 obsolete pulmonary arteriovenous malformation skos:exactMatch NANDO:2200295 Pulmonary arteriovenous fistulae semapv:MappingInversion -MONDO:0016081 coronary arterial fistulas skos:exactMatch NANDO:2200296 Coronary artery fistula semapv:MappingInversion -MONDO:0015924 pulmonary arterial hypertension skos:exactMatch NANDO:2200298 Pulmonary arterial hypertension semapv:MappingInversion -MONDO:0001493 chronic pulmonary heart disease skos:exactMatch NANDO:2200299 Chronic cor pulmonale semapv:MappingInversion -MONDO:0005997 tricuspid valve stenosis skos:exactMatch NANDO:2200300 Tricuspid valve stenosis semapv:MappingInversion -MONDO:0002870 tricuspid valve insufficiency skos:exactMatch NANDO:2200301 Tricuspid valve regurgitation semapv:MappingInversion -MONDO:0005852 mitral valve stenosis skos:exactMatch NANDO:2200302 Mitral valve stenosis semapv:MappingInversion -MONDO:0001298 congenital mitral valve insufficiency skos:exactMatch NANDO:2200303 Mitral regurgitation semapv:MappingInversion -MONDO:0006936 pulmonary valve stenosis skos:exactMatch NANDO:2200304 Pulmonary valve stenosis semapv:MappingInversion -MONDO:0001927 pulmonary valve insufficiency skos:exactMatch NANDO:2200305 Pulmonary valve regurgitation semapv:MappingInversion -MONDO:0042981 aortic valve stenosis skos:exactMatch NANDO:2200306 Aortic valve stenosis semapv:MappingInversion -MONDO:0005648 aortic valve insufficiency skos:exactMatch NANDO:2200307 Aortic valve regurgitation semapv:MappingInversion -MONDO:0020400 congenital supravalvular mitral ring skos:exactMatch NANDO:2200308 Supramitral ring semapv:MappingInversion -MONDO:0018762 non-acquired combined pituitary hormone deficiency skos:exactMatch NANDO:2200312 Congenital hypopituitarism semapv:MappingInversion -MONDO:0019832 acquired pituitary hormone deficiency skos:exactMatch NANDO:2200313 Acquired hypopituitarism semapv:MappingInversion -MONDO:0020479 pituitary gigantism skos:exactMatch NANDO:2200314 Pituitary gigantism semapv:MappingInversion -MONDO:0019933 acromegaly skos:exactMatch NANDO:2200315 Acromegaly semapv:MappingInversion -MONDO:0000050 isolated congenital growth hormone deficiency skos:exactMatch NANDO:2200317 Congenital growth hormone deficiency semapv:MappingInversion -MONDO:0010038 growth delay due to insulin-like growth factor I resistance skos:exactMatch NANDO:2200320 IGF1 insensitivity semapv:MappingInversion -MONDO:0015892 growth hormone insensitivity syndrome skos:exactMatch NANDO:2200321 Growth hormone insensitivity semapv:MappingInversion -MONDO:0005804 hyperprolactinemia skos:exactMatch NANDO:2200322 Hyperprolactinemia semapv:MappingInversion -MONDO:0006802 inappropriate ADH syndrome skos:exactMatch NANDO:2200323 Syndrome of inappropriate secretion of antidiuretic hormone semapv:MappingInversion -MONDO:0015790 central diabetes insipidus skos:exactMatch NANDO:2200324 Central diabetes insipidus semapv:MappingInversion -MONDO:0018620 hypothalamic adipsic hypernatraemia syndrome skos:exactMatch NANDO:2200325 Adipsic hypernatremia semapv:MappingInversion -MONDO:0016383 nephrogenic diabetes insipidus skos:exactMatch NANDO:2200326 Nephrogenic diabetes insipidus semapv:MappingInversion -MONDO:0005364 Graves disease skos:exactMatch NANDO:2200328 Basedow disease semapv:MappingInversion -MONDO:0004425 hyperthyroidism skos:exactMatch NANDO:2200329 Hyperthyroidism semapv:MappingInversion -MONDO:0019854 thyroid ectopia skos:exactMatch NANDO:2200330 Ectoic thyroid semapv:MappingInversion -MONDO:0019855 athyreosis skos:exactMatch NANDO:2200331 Thyroid agenesis semapv:MappingInversion -MONDO:0016410 central congenital hypothyroidism skos:exactMatch NANDO:2200332 Thyroid-stimulating hormone deficiency semapv:MappingInversion -MONDO:0018612 congenital hypothyroidism skos:exactMatch NANDO:2200333 Congenital hypothyroidism semapv:MappingInversion -MONDO:0007699 Hashimoto thyroiditis skos:exactMatch NANDO:2200335 Hashimoto disease semapv:MappingInversion -MONDO:0005624 atrophic thyroiditis skos:exactMatch NANDO:2200336 Atrophic thyroiditis semapv:MappingInversion -MONDO:0016410 central congenital hypothyroidism skos:exactMatch NANDO:2200340 Central hypothyroidism semapv:MappingInversion -MONDO:0001328 thyroid hormone resistance syndrome skos:exactMatch NANDO:2200341 Resistance to thyroid hormone semapv:MappingInversion -MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive skos:exactMatch NANDO:2200341 Resistance to thyroid hormone semapv:MappingInversion -MONDO:0001741 hyperparathyroidism skos:exactMatch NANDO:2200343 Hyperparathyroidism semapv:MappingInversion -MONDO:0001220 hypoparathyroidism skos:exactMatch NANDO:2200345 Hypoparathyroidism semapv:MappingInversion -MONDO:0015895 obsolete syndrome with hypoparathyroidism skos:exactMatch NANDO:2200345 Hypoparathyroidism semapv:MappingInversion -MONDO:0009411 autoimmune polyendocrine syndrome type 1 skos:exactMatch NANDO:2200346 Autoimmune polyendocrinopathy type 1 semapv:MappingInversion -MONDO:0010012 autoimmune polyendocrinopathy type 2 skos:exactMatch NANDO:2200347 Autoimmune polyendocrinopathy type 2 semapv:MappingInversion -MONDO:0012912 pseudopseudohypoparathyroidism skos:exactMatch NANDO:2200348 Pseudopseudohypoparathyroidism semapv:MappingInversion -MONDO:0019992 pseudohypoparathyroidism skos:exactMatch NANDO:2200349 Pseudohypoparathyroidism semapv:MappingInversion -MONDO:0009050 Cushing disease due to pituitary adenoma skos:exactMatch NANDO:2200350 Cushing disease semapv:MappingInversion -MONDO:0043472 ectopic ACTH secretion syndrome skos:exactMatch NANDO:2200351 Ectopic ACTH syndrome semapv:MappingInversion -MONDO:0003924 adrenal cortex adenoma skos:exactMatch NANDO:2200352 Adrenal adenoma semapv:MappingInversion -MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia skos:exactMatch NANDO:2200353 ACTH-independent macronodular adrenal hyperplasia semapv:MappingInversion -MONDO:0010264 X-linked adrenal hypoplasia congenita skos:exactMatch NANDO:2200357 Congenital adrenal hypoplasia semapv:MappingInversion -MONDO:0016241 alternating hemiplegia of childhood skos:exactMatch NANDO:2200357 Congenital adrenal hypoplasia semapv:MappingInversion -MONDO:0014421 glucocorticoid resistance skos:exactMatch NANDO:2200358 Glucocorticoid resistance semapv:MappingInversion -MONDO:0009410 obsolete Addison disease skos:exactMatch NANDO:2200359 Other chronic adrenal insufficiency semapv:MappingInversion -MONDO:0015129 chronic primary adrenal insufficiency skos:exactMatch NANDO:2200359 Other chronic adrenal insufficiency semapv:MappingInversion -MONDO:0009410 obsolete Addison disease skos:exactMatch NANDO:2200360 Addison's disease semapv:MappingInversion -MONDO:0015129 chronic primary adrenal insufficiency skos:exactMatch NANDO:2200360 Addison's disease semapv:MappingInversion -MONDO:0001422 primary aldosteronism skos:exactMatch NANDO:2200361 Aldosteronism semapv:MappingInversion -MONDO:0006657 obsolete apparent mineralocorticoid excess syndrome skos:exactMatch NANDO:2200362 Apparent mineralocorticoid excess syndrome semapv:MappingInversion -MONDO:0009025 apparent mineralocorticoid excess skos:exactMatch NANDO:2200362 Apparent mineralocorticoid excess syndrome semapv:MappingInversion -MONDO:0008323 Liddle syndrome skos:exactMatch NANDO:2200363 Liddle syndrome semapv:MappingInversion -MONDO:0020489 familial hyperreninemic hypoaldosteronism type 1 skos:exactMatch NANDO:2200365 Aldosterone synthase deficiency semapv:MappingInversion -MONDO:0018638 pseudohypoaldosteronism skos:exactMatch NANDO:2200367 Pseudohypoaldosteronism semapv:MappingInversion -MONDO:0019161 pseudohypoaldosteronism type 1 skos:exactMatch NANDO:2200368 Pseudohypoaldosteronism type I semapv:MappingInversion -MONDO:0019162 pseudohypoaldosteronism type 2 skos:exactMatch NANDO:2200369 Pseudohypoaldosteronism type II semapv:MappingInversion -MONDO:0018479 congenital adrenal hyperplasia skos:exactMatch NANDO:2200370 Congenital lipoid adrenal hyperplasia semapv:MappingInversion -MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:exactMatch NANDO:2200371 3 beta-hydroxysteroid dehydrogenase deficiency semapv:MappingInversion -MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:exactMatch NANDO:2200372 11-β-Hydroxylase deficiency semapv:MappingInversion -MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:exactMatch NANDO:2200373 17 alpha-hydroxylase deficiency semapv:MappingInversion -MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:exactMatch NANDO:2200374 21-Hydroxylase deficiency semapv:MappingInversion -MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency skos:exactMatch NANDO:2200375 P450 oxidoreductase deficiency semapv:MappingInversion -MONDO:0019165 central precocious puberty skos:exactMatch NANDO:2200377 Gonadotropin-dependent precocious puberty semapv:MappingInversion -MONDO:0015791 peripheral precocious puberty skos:exactMatch NANDO:2200378 Non-gonadotropin-dependent precocious puberty semapv:MappingInversion -MONDO:0001946 obsolete hyperestrogenism skos:exactMatch NANDO:2200379 Hyperestrogenism semapv:MappingInversion -MONDO:0001324 obsolete hyperandrogenism skos:exactMatch NANDO:2200380 Hyperandrogenism semapv:MappingInversion -MONDO:0018800 Kallmann syndrome skos:exactMatch NANDO:2200381 Kallmann syndrome semapv:MappingInversion -MONDO:0018555 hypogonadotropic hypogonadism skos:exactMatch NANDO:2200382 Hypogonadotropic hypogonadism semapv:MappingInversion -MONDO:0005437 testicular dysgenesis syndrome skos:exactMatch NANDO:2200383 Testicular dysgenesis semapv:MappingInversion -MONDO:0009299 46 XX gonadal dysgenesis skos:exactMatch NANDO:2200384 Ovarian dysgenesis semapv:MappingInversion -MONDO:0006823 Klinefelter syndrome skos:exactMatch NANDO:2200386 Klinefelter syndrome semapv:MappingInversion -MONDO:0016281 46,XX ovotesticular disorder of sex development skos:exactMatch NANDO:2200387 Ovotesticular dsd semapv:MappingInversion -MONDO:0001969 mixed gonadal dysgenesis skos:exactMatch NANDO:2200388 Mixed gonadal dysgenesis semapv:MappingInversion -MONDO:0015779 45,X/46,XY mixed gonadal dysgenesis skos:exactMatch NANDO:2200388 Mixed gonadal dysgenesis semapv:MappingInversion -MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency skos:exactMatch NANDO:2200389 5 alpha-reductase deficiency semapv:MappingInversion -MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:exactMatch NANDO:2200390 17 beta-hydroxysteroid dehydrogenase deficiency semapv:MappingInversion -MONDO:0019154 androgen insensitivity syndrome skos:exactMatch NANDO:2200391 Androgen insensitivity syndrome semapv:MappingInversion -MONDO:0020040 46,XY disorder of sex development skos:exactMatch NANDO:2200393 Disorders of sex development of 46,XX semapv:MappingInversion -MONDO:0020042 obsolete syndrome with 46,XY disorder of sex development skos:exactMatch NANDO:2200393 Disorders of sex development of 46,XX semapv:MappingInversion -MONDO:0019960 VIPoma skos:exactMatch NANDO:2200394 Vipoma semapv:MappingInversion -MONDO:0003523 gastrin-producing neuroendocrine tumor skos:exactMatch NANDO:2200395 Gastrinoma semapv:MappingInversion -MONDO:0005369 carcinoid tumor skos:exactMatch NANDO:2200396 Carcinoid syndrome semapv:MappingInversion -MONDO:0006689 obsolete carcinoid syndrome skos:exactMatch NANDO:2200396 Carcinoid syndrome semapv:MappingInversion -MONDO:0019959 glucagonoma skos:exactMatch NANDO:2200397 Glucagonoma semapv:MappingInversion -MONDO:0024677 pancreatic insulinoma skos:exactMatch NANDO:2200398 Insulinoma semapv:MappingInversion -MONDO:0005803 hyperinsulinemic hypoglycemia skos:exactMatch NANDO:2200399 Congenital hyperinsulinemia semapv:MappingInversion -MONDO:0017182 familial hyperinsulinism skos:exactMatch NANDO:2200399 Congenital hyperinsulinemia semapv:MappingInversion -MONDO:0024299 vitamin D-dependent rickets skos:exactMatch NANDO:2200401 Vitamin D-dependent rickets semapv:MappingInversion -MONDO:0024300 hypophosphatemic rickets skos:exactMatch NANDO:2200402 Vitamin D-resistant osteomalacia semapv:MappingInversion -MONDO:0024300 hypophosphatemic rickets skos:exactMatch NANDO:2200403 Primary hypophosphatemic rickets semapv:MappingInversion -MONDO:0006573 lipodystrophy skos:exactMatch NANDO:2200404 Lipodystrophy semapv:MappingInversion -MONDO:0007540 multiple endocrine neoplasia type 1 skos:exactMatch NANDO:2200405 Multiple endocrine neoplasia type 1 semapv:MappingInversion -MONDO:0008234 multiple endocrine neoplasia type 2A skos:exactMatch NANDO:2200406 Multiple endocrine neoplasia type 2 semapv:MappingInversion -MONDO:0019003 multiple endocrine neoplasia type 2 skos:exactMatch NANDO:2200406 Multiple endocrine neoplasia type 2 semapv:MappingInversion -MONDO:0008667 von Hippel-Lindau disease skos:exactMatch NANDO:2200408 Von Hippel-Lindau disease semapv:MappingInversion -MONDO:0008487 polycystic ovary syndrome skos:exactMatch NANDO:2200409 Polycystic ovary syndrome semapv:MappingInversion -MONDO:0019499 Turner syndrome skos:exactMatch NANDO:2200410 Turner syndrome semapv:MappingInversion -MONDO:0008300 Prader-Willi syndrome skos:exactMatch NANDO:2200411 Prader-Willi syndrome semapv:MappingInversion -MONDO:0018919 McCune-Albright syndrome skos:exactMatch NANDO:2200412 McCune-Albright syndrome semapv:MappingInversion -MONDO:0018997 Noonan syndrome skos:exactMatch NANDO:2200413 Noonan syndrome semapv:MappingInversion -MONDO:0015229 Bardet-Biedl syndrome skos:exactMatch NANDO:2200414 Bardet-Biedl syndrome semapv:MappingInversion -MONDO:0011429 juvenile idiopathic arthritis skos:exactMatch NANDO:2200415 Juvenile idiopathic arthritis semapv:MappingInversion -MONDO:0007915 systemic lupus erythematosus skos:exactMatch NANDO:2200416 Systemic lupus erythematosus semapv:MappingInversion -MONDO:0008054 juvenile dermatomyositis skos:exactMatch NANDO:2200418 Juvenile dermatomyositis semapv:MappingInversion -MONDO:0019734 juvenile polymyositis skos:exactMatch NANDO:2200419 Juvenile polymyositis semapv:MappingInversion -MONDO:0010030 Sjogren syndrome skos:exactMatch NANDO:2200420 Sjogren's syndrome semapv:MappingInversion -MONDO:0007140 obsolete antiphospholipid syndrome skos:exactMatch NANDO:2200421 Anti-phospholipid antibody syndrome semapv:MappingInversion -MONDO:0007191 Behcet disease skos:exactMatch NANDO:2200422 Behcet's disease semapv:MappingInversion -MONDO:0006656 aortitis skos:exactMatch NANDO:2200423 Takayasu arteritis semapv:MappingInversion -MONDO:0017991 Takayasu arteritis skos:exactMatch NANDO:2200423 Takayasu arteritis semapv:MappingInversion -MONDO:0012105 granulomatosis with polyangiitis skos:exactMatch NANDO:2200424 Granulomatosis with polyangiitis semapv:MappingInversion -MONDO:0019170 polyarteritis nodosa skos:exactMatch NANDO:2200425 Polyangiitis nodosa semapv:MappingInversion -MONDO:0019124 microscopic polyangiitis skos:exactMatch NANDO:2200426 Microscopic polyangiitis semapv:MappingInversion -MONDO:0015943 eosinophilic granulomatosis with polyangiitis skos:exactMatch NANDO:2200427 Eosinophilic granulomatosis with polyangiitis semapv:MappingInversion -MONDO:0019125 relapsing polychondritis skos:exactMatch NANDO:2200428 Relapsing polychondritis semapv:MappingInversion -MONDO:0005100 systemic sclerosis skos:exactMatch NANDO:2200429 Systemic sclerosis semapv:MappingInversion -MONDO:0005854 mixed connective tissue disease skos:exactMatch NANDO:2200430 Mixed connective tissue disease semapv:MappingInversion -MONDO:0018088 familial Mediterranean fever skos:exactMatch NANDO:2200431 Familial Mediterranean fever semapv:MappingInversion -MONDO:0016168 cryopyrin-associated periodic syndrome skos:exactMatch NANDO:2200432 Cryopyrin-associated periodic syndrome semapv:MappingInversion -MONDO:0007727 autosomal dominant familial periodic fever skos:exactMatch NANDO:2200433 TNF receptor-associated periodic fever syndrome semapv:MappingInversion -MONDO:0008523 Blau syndrome skos:exactMatch NANDO:2200434 Blau syndrome, early onset sarcoidosis semapv:MappingInversion -MONDO:0009726 proteosome-associated autoinflammatory syndrome skos:exactMatch NANDO:2200435 Nakajo-Nishimura syndrome semapv:MappingInversion -MONDO:0009849 hyperimmunoglobulinemia D with periodic fever skos:exactMatch NANDO:2200436 Hyper IgD syndrome semapv:MappingInversion -MONDO:0017708 mevalonate kinase deficiency skos:exactMatch NANDO:2200436 Hyper IgD syndrome semapv:MappingInversion -MONDO:0004471 bacterial arthritis skos:exactMatch NANDO:2200437 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome semapv:MappingInversion -MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:exactMatch NANDO:2200437 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome semapv:MappingInversion -MONDO:0018824 pyoderma gangrenosum skos:exactMatch NANDO:2200437 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome semapv:MappingInversion -MONDO:0009813 chronic recurrent multifocal osteomyelitis skos:exactMatch NANDO:2200438 Chronic recurrent multifocal osteomyelitis semapv:MappingInversion -MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis skos:exactMatch NANDO:2200439 Deficiency of the interleukin-1-receptor antagonist semapv:MappingInversion -MONDO:0014306 vasculitis due to ADA2 deficiency skos:exactMatch NANDO:2200441 Adenosine deaminase 2 deficiency semapv:MappingInversion -MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation skos:exactMatch NANDO:2200442 Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation semapv:MappingInversion -MONDO:0011269 psoriasis 2 skos:exactMatch NANDO:2200443 CARD14 deficiency semapv:MappingInversion -MONDO:0007315 cherubism skos:exactMatch NANDO:2200444 Cherubism semapv:MappingInversion -MONDO:0016542 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome skos:exactMatch NANDO:2200446 IL10 deficiency semapv:MappingInversion -MONDO:0013153 inflammatory bowel disease 28 skos:exactMatch NANDO:2200447 IL-10RA deficiency semapv:MappingInversion -MONDO:0012941 inflammatory bowel disease 25 skos:exactMatch NANDO:2200448 IL-10RB deficiency semapv:MappingInversion -MONDO:0012724 familial cold autoinflammatory syndrome 2 skos:exactMatch NANDO:2200449 NLRP12-associated periodic syndrome semapv:MappingInversion -MONDO:0018768 familial cold autoinflammatory syndrome skos:exactMatch NANDO:2200449 NLRP12-associated periodic syndrome semapv:MappingInversion -MONDO:0014306 vasculitis due to ADA2 deficiency skos:exactMatch NANDO:2200450 Deficiency of the enzyme ADA2 semapv:MappingInversion -MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation skos:exactMatch NANDO:2200451 PLCg2 deficiency semapv:MappingInversion -MONDO:0013626 psoriasis 14, pustular skos:exactMatch NANDO:2200452 IL36RN deficiency semapv:MappingInversion -MONDO:0012316 Majeed syndrome skos:exactMatch NANDO:2200453 Majeed syndrome semapv:MappingInversion -MONDO:0012724 familial cold autoinflammatory syndrome 2 skos:exactMatch NANDO:2200454 NLRP12-associated periodic syndrome semapv:MappingInversion -MONDO:0018768 familial cold autoinflammatory syndrome skos:exactMatch NANDO:2200454 NLRP12-associated periodic syndrome semapv:MappingInversion -MONDO:0013766 familial cold autoinflammatory syndrome 3 skos:exactMatch NANDO:2200455 PLCG2-associated antibody deficiency and immune dysregulation semapv:MappingInversion -MONDO:0018348 obsolete polyglucosan body myopathy type 1 skos:exactMatch NANDO:2200456 RBCK1 deficiency semapv:MappingInversion -MONDO:0011273 H syndrome skos:exactMatch NANDO:2200457 SLC29A3 deficiency semapv:MappingInversion -MONDO:0100222 A20 haploinsufficiency skos:exactMatch NANDO:2200458 A20 haploinsufficiency semapv:MappingInversion -MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome skos:exactMatch NANDO:2200459 NLRC4 mutation semapv:MappingInversion -MONDO:0005147 type 1 diabetes mellitus skos:exactMatch NANDO:2200460 Diabetes mellitus type 1 semapv:MappingInversion -MONDO:0005148 type 2 diabetes mellitus skos:exactMatch NANDO:2200461 Diabetes mellitus type 2 semapv:MappingInversion -MONDO:0007452 maturity-onset diabetes of the young type 1 skos:exactMatch NANDO:2200461 Diabetes mellitus type 2 semapv:MappingInversion -MONDO:0018911 maturity-onset diabetes of the young skos:exactMatch NANDO:2200462 Maturity-onset diabetes of the young semapv:MappingInversion -MONDO:0016391 neonatal diabetes mellitus skos:exactMatch NANDO:2200463 Neonatal diabetes mellitus semapv:MappingInversion -MONDO:0005827 lipoatrophic diabetes skos:exactMatch NANDO:2200465 Lipoatrophic diabetes semapv:MappingInversion -MONDO:0018883 Berardinelli-Seip congenital lipodystrophy skos:exactMatch NANDO:2200465 Lipoatrophic diabetes semapv:MappingInversion -MONDO:0009861 phenylketonuria skos:exactMatch NANDO:2200467 Phenylketonuria semapv:MappingInversion -MONDO:0010161 tyrosinemia type I skos:exactMatch NANDO:2200468 Tyrosinemia type 1 semapv:MappingInversion -MONDO:0010160 tyrosinemia type II skos:exactMatch NANDO:2200469 Tyrosinemia type 2 semapv:MappingInversion -MONDO:0010162 tyrosinemia type III skos:exactMatch NANDO:2200470 Tyrosinemia type 3 semapv:MappingInversion -MONDO:0023419 hyperprolinemia skos:exactMatch NANDO:2200471 Hyperprolinemia semapv:MappingInversion -MONDO:0008221 prolidase deficiency skos:exactMatch NANDO:2200472 Prolidase deficiency semapv:MappingInversion -MONDO:0009563 maple syrup urine disease skos:exactMatch NANDO:2200473 Maple syrup urine disease semapv:MappingInversion -MONDO:0004737 homocystinuria skos:exactMatch NANDO:2200474 Homocystinuria semapv:MappingInversion -MONDO:0000351 disorder of methionine catabolism skos:exactMatch NANDO:2200475 Hypermethioninemia semapv:MappingInversion -MONDO:0011612 glycine encephalopathy skos:exactMatch NANDO:2200476 Nonketotic hyperglycinemia semapv:MappingInversion -MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:exactMatch NANDO:2200477 N-acetylglutamate synthetase deficiency semapv:MappingInversion -MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease skos:exactMatch NANDO:2200478 Carbamoylphosphate synthetase deficiency semapv:MappingInversion -MONDO:0010703 ornithine carbamoyltransferase deficiency skos:exactMatch NANDO:2200479 Ornithine transcarbamylase deficiency semapv:MappingInversion -MONDO:0008988 citrullinemia type I skos:exactMatch NANDO:2200480 Argininosuccinate synthetase deficiency semapv:MappingInversion -MONDO:0008815 argininosuccinic aciduria skos:exactMatch NANDO:2200481 Argininosuccinic aciduria semapv:MappingInversion -MONDO:0008814 hyperargininemia skos:exactMatch NANDO:2200482 Hyperargininemia semapv:MappingInversion -MONDO:0016602 citrin deficiency skos:exactMatch NANDO:2200483 Citrin deficiency semapv:MappingInversion -MONDO:0009796 ornithine aminotransferase deficiency skos:exactMatch NANDO:2200484 Hyperornithinemia semapv:MappingInversion -MONDO:0009393 ornithine translocase deficiency skos:exactMatch NANDO:2200485 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome semapv:MappingInversion -MONDO:0009796 ornithine aminotransferase deficiency skos:exactMatch NANDO:2200486 Gyrate atrophy of choroid and retina semapv:MappingInversion -MONDO:0009324 Hartnup disease skos:exactMatch NANDO:2200487 Hartnup disease semapv:MappingInversion -MONDO:0009109 lysinuric protein intolerance skos:exactMatch NANDO:2200488 Lysinuric protein intolerance semapv:MappingInversion -MONDO:0009067 cystinuria skos:exactMatch NANDO:2200489 Cystinuria semapv:MappingInversion -MONDO:0002012 methylmalonic acidemia skos:exactMatch NANDO:2200491 Methylmalonic acidemia semapv:MappingInversion -MONDO:0011628 propionic acidemia skos:exactMatch NANDO:2200492 Propionic acidemia semapv:MappingInversion -MONDO:0008760 beta-ketothiolase deficiency skos:exactMatch NANDO:2200493 Beta-ketothiolase deficiency semapv:MappingInversion -MONDO:0009475 isovaleric acidemia skos:exactMatch NANDO:2200494 Isovaleric acidemia semapv:MappingInversion -MONDO:0018950 3-methylcrotonyl-CoA carboxylase deficiency skos:exactMatch NANDO:2200495 3-methylcrotonyl-CoA carboxylase deficiency semapv:MappingInversion -MONDO:0017359 3-methylglutaconic aciduria skos:exactMatch NANDO:2200496 Methylglutaconic aciduria semapv:MappingInversion -MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:exactMatch NANDO:2200497 3-hydroxy-3-methylglutaric acidemia semapv:MappingInversion -MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:exactMatch NANDO:2200498 3-hydroxy-3-methylglutaryl-CoA synthase deficiency semapv:MappingInversion -MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency skos:exactMatch NANDO:2200499 Succinyl-CoA:3-ketoacid CoA transferase deficiency semapv:MappingInversion -MONDO:0015454 multiple carboxylase deficiency skos:exactMatch NANDO:2200500 Multiple carboxylase deficiency semapv:MappingInversion -MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:exactMatch NANDO:2200501 Glutaric acidemia type 1 semapv:MappingInversion -MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:exactMatch NANDO:2200502 Glutaric acidemia type 2 semapv:MappingInversion -MONDO:0002474 primary hyperoxaluria skos:exactMatch NANDO:2200503 Primary hyperoxaluria semapv:MappingInversion -MONDO:0008753 alkaptonuria skos:exactMatch NANDO:2200504 Alkaptonuria semapv:MappingInversion -MONDO:0010613 inborn glycerol kinase deficiency skos:exactMatch NANDO:2200505 Glycerol kinase deficiency semapv:MappingInversion -MONDO:0019218 inborn disorder of bile acid synthesis skos:exactMatch NANDO:2200506 Inborn errors of bile acid metabolism semapv:MappingInversion -MONDO:0008919 systemic primary carnitine deficiency disease skos:exactMatch NANDO:2200508 Organic cation transporter 2 deficiency semapv:MappingInversion -MONDO:0009705 carnitine palmitoyl transferase 1A deficiency skos:exactMatch NANDO:2200509 Carnitine palmitoyltransferase I deficiency semapv:MappingInversion -MONDO:0015515 carnitine palmitoyltransferase II deficiency skos:exactMatch NANDO:2200510 Carnitine palmitoyltransferase II deficiency semapv:MappingInversion -MONDO:0008918 carnitine-acylcarnitine translocase deficiency skos:exactMatch NANDO:2200511 Carnitine-acylcarnitine translocase deficiency semapv:MappingInversion -MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency skos:exactMatch NANDO:2200512 Very-long-chain acyl-CoA dehydrogenase deficiency semapv:MappingInversion -MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:exactMatch NANDO:2200513 Medium-chain acyl-CoA dehydrogenase deficiency semapv:MappingInversion -MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:exactMatch NANDO:2200514 Short-chain acyl-CoA dehydrogenase deficiency semapv:MappingInversion -MONDO:0012172 mitochondrial trifunctional protein deficiency skos:exactMatch NANDO:2200515 Trifunctional protein deficiency semapv:MappingInversion -MONDO:0009278 obsolete hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency skos:exactMatch NANDO:2200516 3-hydroxy acyl-CoA dehydrogenase deficiency semapv:MappingInversion -MONDO:0019169 pyruvate dehydrogenase deficiency skos:exactMatch NANDO:2200518 Pyruvate dehydrogenase complex deficiency semapv:MappingInversion -MONDO:0009949 pyruvate carboxylase deficiency disease skos:exactMatch NANDO:2200519 Pyruvate carboxylase deficiency semapv:MappingInversion -MONDO:0011730 fumaric aciduria skos:exactMatch NANDO:2200520 Fumarase deficiency semapv:MappingInversion -MONDO:0017718 obsolete mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes skos:exactMatch NANDO:2200522 Mitochondrial respiratory chain disorders semapv:MappingInversion -MONDO:0018158 mitochondrial DNA depletion syndrome skos:exactMatch NANDO:2200523 Mitochondrial DNA depletion syndrome semapv:MappingInversion -MONDO:0016793 obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA skos:exactMatch NANDO:2200524 Diseases due to mitochondrial DNA mutation semapv:MappingInversion -MONDO:0010789 MELAS syndrome skos:exactMatch NANDO:2200525 Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) semapv:MappingInversion -MONDO:0010790 MERRF syndrome skos:exactMatch NANDO:2200526 Myoclonus epilepsy associated with ragged-red fibers semapv:MappingInversion -MONDO:0009723 Leigh syndrome skos:exactMatch NANDO:2200527 Leigh syndrome semapv:MappingInversion -MONDO:0018158 mitochondrial DNA depletion syndrome skos:exactMatch NANDO:2200528 Diseases due to mitochondrial DNA deletion semapv:MappingInversion -MONDO:0010787 Kearns-Sayre syndrome skos:exactMatch NANDO:2200529 Kearns-Sayre syndrome semapv:MappingInversion -MONDO:0009249 hereditary fructose intolerance skos:exactMatch NANDO:2200531 Hereditary fructose intolerance semapv:MappingInversion -MONDO:0009258 classic galactosemia skos:exactMatch NANDO:2200532 Galactose-1-phosphate uridyltransferase deficiency semapv:MappingInversion -MONDO:0009255 galactokinase deficiency skos:exactMatch NANDO:2200533 Galactokinase deficiency semapv:MappingInversion -MONDO:0009257 galactose epimerase deficiency skos:exactMatch NANDO:2200534 UDP-galactose-4-epimerase deficiency semapv:MappingInversion -MONDO:0009251 fructose-1,6-bisphosphatase deficiency skos:exactMatch NANDO:2200535 Fructose-1,6-bisphosphatase deficiency semapv:MappingInversion -MONDO:0017320 phosphoenolpyruvate carboxykinase deficiency skos:exactMatch NANDO:2200536 Phosphoenolpyruvate carboxykinase deficiency semapv:MappingInversion -MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:exactMatch NANDO:2200537 Glycogen synthase deficiency semapv:MappingInversion -MONDO:0002413 glycogen storage disease I skos:exactMatch NANDO:2200538 Glycogen storage disease type I semapv:MappingInversion -MONDO:0009291 glycogen storage disease III skos:exactMatch NANDO:2200539 Glycogen storage disease type III semapv:MappingInversion -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:exactMatch NANDO:2200540 Glycogen storage disease type IV semapv:MappingInversion -MONDO:0009293 glycogen storage disease V skos:exactMatch NANDO:2200541 Glycogen storage disease type V semapv:MappingInversion -MONDO:0009294 glycogen storage disease VI skos:exactMatch NANDO:2200542 Glycogen storage disease type VI semapv:MappingInversion -MONDO:0009295 glycogen storage disease VII skos:exactMatch NANDO:2200543 Glycogen storage disease type VII semapv:MappingInversion -MONDO:0018251 obsolete glycogen storage disease due to phosphorylase kinase deficiency skos:exactMatch NANDO:2200544 Glycogen storage disease type IX semapv:MappingInversion -MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:exactMatch NANDO:2200545 Glucose transporter 1 deficiency semapv:MappingInversion -MONDO:0001586 mucopolysaccharidosis type 1 skos:exactMatch NANDO:2200547 Mucopolysaccharidosis type I semapv:MappingInversion -MONDO:0010674 mucopolysaccharidosis type 2 skos:exactMatch NANDO:2200548 Mucopolysaccharidosis type II semapv:MappingInversion -MONDO:0018937 mucopolysaccharidosis type 3 skos:exactMatch NANDO:2200549 Mucopolysaccharidosis type III semapv:MappingInversion -MONDO:0018938 mucopolysaccharidosis type 4 skos:exactMatch NANDO:2200550 Mucopolysaccharidosis type IV semapv:MappingInversion -MONDO:0009661 mucopolysaccharidosis type 6 skos:exactMatch NANDO:2200551 Mucopolysaccharidosis type VI semapv:MappingInversion -MONDO:0009662 mucopolysaccharidosis type 7 skos:exactMatch NANDO:2200552 Mucopolysaccharidosis type VII semapv:MappingInversion -MONDO:0009254 fucosidosis skos:exactMatch NANDO:2200553 Fucosidosis semapv:MappingInversion -MONDO:0008830 aspartylglucosaminuria skos:exactMatch NANDO:2200555 Aspartylglucosaminuria semapv:MappingInversion -MONDO:0017734 sialidosis skos:exactMatch NANDO:2200556 Sialidosis semapv:MappingInversion -MONDO:0009737 galactosialidosis skos:exactMatch NANDO:2200557 Galactosialidosis semapv:MappingInversion -MONDO:0018149 GM1 gangliosidosis skos:exactMatch NANDO:2200558 GM1 Gangliosidosis semapv:MappingInversion -MONDO:0017720 GM2 gangliosidosis skos:exactMatch NANDO:2200559 GM2 gangliosidosis semapv:MappingInversion -MONDO:0018868 metachromatic leukodystrophy skos:exactMatch NANDO:2200560 Metachromatic leukodystrophy semapv:MappingInversion -MONDO:0001982 Niemann-Pick disease skos:exactMatch NANDO:2200561 Niemann-Pick disease semapv:MappingInversion -MONDO:0018150 Gaucher disease skos:exactMatch NANDO:2200562 Gaucher disease semapv:MappingInversion -MONDO:0010526 Fabry disease skos:exactMatch NANDO:2200563 Fabry disease semapv:MappingInversion -MONDO:0009499 Krabbe disease skos:exactMatch NANDO:2200564 Krabbe disease semapv:MappingInversion -MONDO:0009218 Farber lipogranulomatosis skos:exactMatch NANDO:2200565 Farber disease semapv:MappingInversion -MONDO:0010088 mucosulfatidosis skos:exactMatch NANDO:2200566 Multiple sulfatase deficiency semapv:MappingInversion -MONDO:0009650 mucolipidosis type II skos:exactMatch NANDO:2200567 Mucolipidosis II semapv:MappingInversion -MONDO:0018931 mucolipidosis type III, alpha/beta skos:exactMatch NANDO:2200568 Mucolipidosis III semapv:MappingInversion -MONDO:0009290 glycogen storage disease II skos:exactMatch NANDO:2200569 Pompe disease semapv:MappingInversion -MONDO:0019148 Wolman disease skos:exactMatch NANDO:2200570 Acid lipase deficiency semapv:MappingInversion -MONDO:0016239 cystinosis skos:exactMatch NANDO:2200571 Cystinosis semapv:MappingInversion -MONDO:0019366 free sialic acid storage disease skos:exactMatch NANDO:2200572 Free Sialic Acid Storage Disease semapv:MappingInversion -MONDO:0016295 neuronal ceroid lipofuscinosis skos:exactMatch NANDO:2200573 Neuronal ceroid lipofuscinoses semapv:MappingInversion -MONDO:0019234 peroxisome biogenesis disorder skos:exactMatch NANDO:2200575 Peroxisome biogenesis disorders semapv:MappingInversion -MONDO:0018544 adrenoleukodystrophy skos:exactMatch NANDO:2200576 Adrenoleukodystrophy semapv:MappingInversion -MONDO:0009958 adult Refsum disease skos:exactMatch NANDO:2200577 Refsum disease semapv:MappingInversion -MONDO:0010200 Wilson disease skos:exactMatch NANDO:2200579 Wilson disease semapv:MappingInversion -MONDO:0010651 Menkes disease skos:exactMatch NANDO:2200580 Menkes disease semapv:MappingInversion -MONDO:0010572 occipital horn syndrome skos:exactMatch NANDO:2200581 Occipital horn syndrome semapv:MappingInversion -MONDO:0011426 aceruloplasminemia skos:exactMatch NANDO:2200582 Aceruloplasminemia semapv:MappingInversion -MONDO:0010089 isolated sulfite oxidase deficiency skos:exactMatch NANDO:2200583 Sulfite oxidase deficiency semapv:MappingInversion -MONDO:0008713 acrodermatitis enteropathica skos:exactMatch NANDO:2200584 Acrodermatitis enteropathica semapv:MappingInversion -MONDO:0010298 Lesch-Nyhan syndrome skos:exactMatch NANDO:2200586 Lesch-Nyhan syndrome semapv:MappingInversion -MONDO:0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency skos:exactMatch NANDO:2200586 Lesch-Nyhan syndrome semapv:MappingInversion -MONDO:0013869 adenine phosphoribosyltransferase deficiency skos:exactMatch NANDO:2200587 Adenine phosphoribosyltransferase deficiency semapv:MappingInversion -MONDO:0000721 xanthinuria skos:exactMatch NANDO:2200588 Xanthinuria semapv:MappingInversion -MONDO:0009797 orotic aciduria skos:exactMatch NANDO:2200590 Orotic aciduria semapv:MappingInversion -MONDO:0009238 hereditary folate malabsorption skos:exactMatch NANDO:2200592 Hereditary folate malabsorption semapv:MappingInversion -MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency skos:exactMatch NANDO:2200594 Tetrahydrobiopterin deficiency semapv:MappingInversion -MONDO:0100064 tyrosine hydroxylase deficiency skos:exactMatch NANDO:2200595 Tyrosine hydroxylase deficiency semapv:MappingInversion -MONDO:0012084 aromatic L-amino acid decarboxylase deficiency skos:exactMatch NANDO:2200596 Aromatic L-amino acid decarboxylase deficiency semapv:MappingInversion -MONDO:0009123 orthostatic hypotension 1 skos:exactMatch NANDO:2200597 Dopamine beta hydroxylase deficiency semapv:MappingInversion -MONDO:0013166 GABA aminotransaminase deficiency skos:exactMatch NANDO:2200598 Gamma-amino butyrate aminotransferase deficiency semapv:MappingInversion -MONDO:0010083 succinic semialdehyde dehydrogenase deficiency skos:exactMatch NANDO:2200599 Succinic semialdehyde dehydrogenase deficiency semapv:MappingInversion -MONDO:0005439 familial hypercholesterolemia skos:exactMatch NANDO:2200602 Familial hypercholesterolemia semapv:MappingInversion -MONDO:0007750 hypercholesterolemia, familial, 1 skos:exactMatch NANDO:2200602 Familial hypercholesterolemia semapv:MappingInversion -MONDO:0016525 familial hyperaldosteronism skos:exactMatch NANDO:2200602 Familial hypercholesterolemia semapv:MappingInversion -MONDO:0001336 familial hyperlipidemia skos:exactMatch NANDO:2200603 Familial combined hyperlipidemia semapv:MappingInversion -MONDO:0008692 abetalipoproteinemia skos:exactMatch NANDO:2200604 Abetalipoproteinemia semapv:MappingInversion -MONDO:0017773 hypoalphalipoproteinemia skos:exactMatch NANDO:2200605 HDL deficiency semapv:MappingInversion -MONDO:0100189 apolipoprotein A-I deficiency skos:exactMatch NANDO:2200605 HDL deficiency semapv:MappingInversion -MONDO:0020066 Ehlers-Danlos syndrome skos:exactMatch NANDO:2200607 Ehlers-Danlos syndrome semapv:MappingInversion -MONDO:0009530 lipoid proteinosis skos:exactMatch NANDO:2200608 Lipoid proteinosis semapv:MappingInversion -MONDO:0019142 inherited porphyria skos:exactMatch NANDO:2200610 Congenital porphyria semapv:MappingInversion -MONDO:0013282 alpha 1-antitrypsin deficiency skos:exactMatch NANDO:2200611 Alpha-1-antitrypsin deficiency semapv:MappingInversion -MONDO:0001700 megaloblastic anemia skos:exactMatch NANDO:2200612 Megaloblastic anemia semapv:MappingInversion -MONDO:0020338 adult pure red cell aplasia skos:exactMatch NANDO:2200613 Acquired pure red cell aplasia semapv:MappingInversion -MONDO:0015253 Diamond-Blackfan anemia skos:exactMatch NANDO:2200614 Congenital red cell aplasia semapv:MappingInversion -MONDO:0019403 congenital dyserythropoietic anemia skos:exactMatch NANDO:2200615 Congenital dyserythropoietic anemia semapv:MappingInversion -MONDO:0015194 sideroblastic anemia skos:exactMatch NANDO:2200616 Sideroblastic anemia semapv:MappingInversion -MONDO:0008846 atransferrinemia skos:exactMatch NANDO:2200617 Congenital atransferrinemia semapv:MappingInversion -MONDO:0018922 cold agglutinin disease skos:exactMatch NANDO:2200618 Cold agglutinin disease semapv:MappingInversion -MONDO:0019533 paroxysmal cold hemoglobinuria skos:exactMatch NANDO:2200619 Paroxysmal cold hemoglobinuria semapv:MappingInversion -MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria skos:exactMatch NANDO:2200621 Paroxysmal nocturnal hemoglobinuria semapv:MappingInversion -MONDO:0019350 hereditary spherocytosis skos:exactMatch NANDO:2200622 Hereditary spherocytosis semapv:MappingInversion -MONDO:0020102 hereditary stomatocytosis skos:exactMatch NANDO:2200623 Hereditary stomatocytosis semapv:MappingInversion -MONDO:0011382 sickle cell anemia skos:exactMatch NANDO:2200624 Sickle cell disease semapv:MappingInversion -MONDO:0020459 unstable hemoglobin disease skos:exactMatch NANDO:2200625 Unstable hemoglobin disease semapv:MappingInversion -MONDO:0000984 thalassemia skos:exactMatch NANDO:2200626 Thalassemia semapv:MappingInversion -MONDO:0005775 G6PD deficiency skos:exactMatch NANDO:2200627 Glucose-6-phosphate dehydrogenase deficiency semapv:MappingInversion -MONDO:0009950 pyruvate kinase deficiency of red cells skos:exactMatch NANDO:2200628 Hemolytic anemia due to red cell pyruvate kinase deficiency semapv:MappingInversion -MONDO:0017319 hereditary elliptocytosis skos:exactMatch NANDO:2200630 Hereditary elliptocytosis semapv:MappingInversion -MONDO:0009948 pyropoikilocytosis, hereditary skos:exactMatch NANDO:2200631 Hereditary pyropoikilocytosis semapv:MappingInversion -MONDO:0017910 dehydrated hereditary stomatocytosis skos:exactMatch NANDO:2200633 Stomatocytic xerocytosis semapv:MappingInversion -MONDO:0008367 red cell phospholipid defect with hemolysis skos:exactMatch NANDO:2200634 Xerocytosis with high phosphatidylcholine hemolytic anemia semapv:MappingInversion -MONDO:0016242 hemoglobin C disease skos:exactMatch NANDO:2200635 Hemoglobin C disease semapv:MappingInversion -MONDO:0003664 hemolytic anemia skos:exactMatch NANDO:2200636 Hemolytic anemia semapv:MappingInversion -MONDO:0006795 hypersplenism skos:exactMatch NANDO:2200637 Hypersplenism semapv:MappingInversion -MONDO:0001243 disseminated intravascular coagulation skos:exactMatch NANDO:2200639 Disseminated intravascular coagulation semapv:MappingInversion -MONDO:0019536 Shiga toxin-associated hemolytic uremic syndrome skos:exactMatch NANDO:2200640 Shiga toxin-producing escherichia coli hemolytic uremic syndrome semapv:MappingInversion -MONDO:0016244 atypical hemolytic-uremic syndrome skos:exactMatch NANDO:2200641 Atypical hemolytic uremic syndrome semapv:MappingInversion -MONDO:0009891 acquired polycythemia vera skos:exactMatch NANDO:2200643 Polycythemia vera semapv:MappingInversion -MONDO:0001115 familial polycythemia skos:exactMatch NANDO:2200644 Familial polycythemia semapv:MappingInversion -MONDO:0008558 autoimmune thrombocytopenic purpura skos:exactMatch NANDO:2200645 Immune thrombocytopenic purpura semapv:MappingInversion -MONDO:0019415 fetal and neonatal alloimmune thrombocytopenia skos:exactMatch NANDO:2200647 Neonatal alloimmune thrombocytopenia semapv:MappingInversion -MONDO:0018048 heparin-induced thrombocytopenia skos:exactMatch NANDO:2200648 Heparin-induced thrombocytopenia semapv:MappingInversion -MONDO:0018896 thrombotic thrombocytopenic purpura skos:exactMatch NANDO:2200649 Thrombotic thrombocytopenic purpura semapv:MappingInversion -MONDO:0011469 congenital amegakaryocytic thrombocytopenia skos:exactMatch NANDO:2200651 Congenital amegakaryocytic thrombocytopenia semapv:MappingInversion -MONDO:0019391 Fanconi anemia skos:exactMatch NANDO:2200652 Fanconi anemia semapv:MappingInversion -MONDO:0008556 thrombocytopenia, cyclic skos:exactMatch NANDO:2200653 Cyclic thrombocytopenia semapv:MappingInversion -MONDO:0007954 obsolete May-Hegglin anomaly skos:exactMatch NANDO:2200654 May-Hegglin anomaly semapv:MappingInversion -MONDO:0005029 essential thrombocythemia skos:exactMatch NANDO:2200655 Essential thrombocythemia semapv:MappingInversion -MONDO:0009276 Bernard-Soulier syndrome skos:exactMatch NANDO:2200656 Bernard-Soulier syndrome semapv:MappingInversion -MONDO:0010119 obsolete Glanzmann's thrombasthenia skos:exactMatch NANDO:2200657 Thrombasthenia semapv:MappingInversion -MONDO:0011555 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome skos:exactMatch NANDO:2200660 Congenital thrombocytopenia with radio-ulnar synostosis semapv:MappingInversion -MONDO:0010121 thrombocytopenia-absent radius syndrome skos:exactMatch NANDO:2200661 Thrombocytopenia with absent radii semapv:MappingInversion -MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 skos:exactMatch NANDO:2200662 Familial platelet disorder with propensity to myeloid. semapv:MappingInversion -MONDO:0008555 thrombocytopenia 2 skos:exactMatch NANDO:2200663 Autosomal dominant thrombocytopenia 2 semapv:MappingInversion -MONDO:0010119 obsolete Glanzmann's thrombasthenia skos:exactMatch NANDO:2200664 ITGA2B/ITGB3 mutations semapv:MappingInversion -MONDO:0014078 platelet-type bleeding disorder 15 skos:exactMatch NANDO:2200665 ACTN1 mutations semapv:MappingInversion -MONDO:0013141 obsolete autosomal dominant macrothrombocytopenia TUBB1-related skos:exactMatch NANDO:2200667 β-1 tubulin disorders semapv:MappingInversion -MONDO:0008332 platelet-type von Willebrand disease skos:exactMatch NANDO:2200668 Platelet-type von Willebrand disease semapv:MappingInversion -MONDO:0012354 platelet-type bleeding disorder 8 skos:exactMatch NANDO:2200669 ADP receptor deficiencies semapv:MappingInversion -MONDO:0013623 platelet-type bleeding disorder 11 skos:exactMatch NANDO:2200670 Abnormalities in platelet collagen receptors semapv:MappingInversion -MONDO:0009885 Scott syndrome skos:exactMatch NANDO:2200671 Scott syndrome semapv:MappingInversion -MONDO:0008737 congenital afibrinogenemia skos:exactMatch NANDO:2200672 Afibrinogenemia semapv:MappingInversion -MONDO:0013361 congenital prothrombin deficiency skos:exactMatch NANDO:2200673 Hypoprothrombinemia semapv:MappingInversion -MONDO:0020586 factor V deficiency skos:exactMatch NANDO:2200674 Factor V deficiency semapv:MappingInversion -MONDO:0002244 factor VII deficiency skos:exactMatch NANDO:2200675 Factor VII deficiency semapv:MappingInversion -MONDO:0010602 hemophilia A skos:exactMatch NANDO:2200676 Hemophilia A semapv:MappingInversion -MONDO:0010604 hemophilia B skos:exactMatch NANDO:2200677 Hemophilia B semapv:MappingInversion -MONDO:0002247 factor X deficiency skos:exactMatch NANDO:2200678 Factor X deficiency semapv:MappingInversion -MONDO:0020587 factor XI deficiency skos:exactMatch NANDO:2200679 Factor XI deficiency semapv:MappingInversion -MONDO:0009315 congenital factor XII deficiency skos:exactMatch NANDO:2200680 Factor XII deficiency semapv:MappingInversion -MONDO:0002241 factor XIII deficiency skos:exactMatch NANDO:2200681 Factor XIII deficiency semapv:MappingInversion -MONDO:0018029 congenital factor XIII deficiency skos:exactMatch NANDO:2200681 Factor XIII deficiency semapv:MappingInversion -MONDO:0024574 von Willebrand disease (hereditary or acquired) skos:exactMatch NANDO:2200682 Von Willebrand disease semapv:MappingInversion -MONDO:0012901 inherited prekallikrein deficiency skos:exactMatch NANDO:2200684 Congenital prekallikrein deficiency semapv:MappingInversion -MONDO:0044744 prekallikrein deficiency skos:exactMatch NANDO:2200684 Congenital prekallikrein deficiency semapv:MappingInversion -MONDO:0009234 congenital high-molecular-weight kininogen deficiency skos:exactMatch NANDO:2200685 High molecular weight kininogen deficiency semapv:MappingInversion -MONDO:0018175 combined deficiency of factor V and factor VIII skos:exactMatch NANDO:2200686 Combined deficiency of coagulation factors V and VIII semapv:MappingInversion -MONDO:0009883 alpha-2-plasmin inhibitor deficiency skos:exactMatch NANDO:2200687 Alpha-2-plasmin inhibitor deficiency semapv:MappingInversion -MONDO:0013227 congenital plasminogen activator inhibitor type 1 deficiency skos:exactMatch NANDO:2200688 Congenital plasminogen activator inhibitor-1 deficiency semapv:MappingInversion -MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency skos:exactMatch NANDO:2200689 Protein C deficiency semapv:MappingInversion -MONDO:0002304 protein S deficiency skos:exactMatch NANDO:2200690 Protein S deficiency semapv:MappingInversion -MONDO:0044903 myelofibrosis skos:exactMatch NANDO:2200692 Myelofibrosis semapv:MappingInversion -MONDO:0015909 aplastic anemia skos:exactMatch NANDO:2200693 Aplastic anemia semapv:MappingInversion -MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency skos:exactMatch NANDO:2200694 X-linked severe combined immunodeficiency semapv:MappingInversion -MONDO:0009973 reticular dysgenesis skos:exactMatch NANDO:2200695 Reticular dysgenesis semapv:MappingInversion -MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:exactMatch NANDO:2200696 Adenosine deaminase deficiency semapv:MappingInversion -MONDO:0011338 Omenn syndrome skos:exactMatch NANDO:2200697 Omenn syndrome semapv:MappingInversion -MONDO:0013171 purine nucleoside phosphorylase deficiency skos:exactMatch NANDO:2200698 Purine nucleoside phosphorylase deficiency semapv:MappingInversion -MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation skos:exactMatch NANDO:2200699 CD8 deficiency semapv:MappingInversion -MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency skos:exactMatch NANDO:2200700 ZAP-70 deficiency semapv:MappingInversion -MONDO:0011476 MHC class I deficiency skos:exactMatch NANDO:2200701 MHC class I deficiency semapv:MappingInversion -MONDO:0008855 MHC class II deficiency skos:exactMatch NANDO:2200702 MHC class II deficiency semapv:MappingInversion -MONDO:0010518 Wiskott-Aldrich syndrome skos:exactMatch NANDO:2200704 Wiskott-Aldrich syndrome semapv:MappingInversion -MONDO:0008840 ataxia telangiectasia skos:exactMatch NANDO:2200705 Ataxia telangiectasia semapv:MappingInversion -MONDO:0009623 Nijmegen breakage syndrome skos:exactMatch NANDO:2200706 Nijmegen breakage syndrome semapv:MappingInversion -MONDO:0008876 Bloom syndrome skos:exactMatch NANDO:2200707 Bloom syndrome semapv:MappingInversion -MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome skos:exactMatch NANDO:2200708 ICF syndrome semapv:MappingInversion -MONDO:0012764 RIDDLE syndrome skos:exactMatch NANDO:2200710 RIDDLE syndrome semapv:MappingInversion -MONDO:0009458 Schimke immuno-osseous dysplasia skos:exactMatch NANDO:2200711 Schimke syndrome semapv:MappingInversion -MONDO:0008564 DiGeorge syndrome skos:exactMatch NANDO:2200712 Thymus hypoplasia semapv:MappingInversion -MONDO:0008644 velocardiofacial syndrome skos:exactMatch NANDO:2200712 Thymus hypoplasia semapv:MappingInversion -MONDO:0018923 22q11.2 deletion syndrome skos:exactMatch NANDO:2200712 Thymus hypoplasia semapv:MappingInversion -MONDO:0018037 hyper-IgE syndrome skos:exactMatch NANDO:2200713 Hyper-IgE syndrome semapv:MappingInversion -MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome skos:exactMatch NANDO:2200714 Hepatic veno-occlusive disease with immunodeficiency semapv:MappingInversion -MONDO:0015780 dyskeratosis congenita skos:exactMatch NANDO:2200715 Dyskeratosis congenita semapv:MappingInversion -MONDO:0010421 Bruton-type agammaglobulinemia skos:exactMatch NANDO:2200716 X-linked agammaglobulinemia semapv:MappingInversion -MONDO:0015517 common variable immunodeficiency skos:exactMatch NANDO:2200717 Common variable immunodeficiency semapv:MappingInversion -MONDO:0003947 hyper-IgM syndrome skos:exactMatch NANDO:2200718 Hyper-IgM syndrome semapv:MappingInversion -MONDO:0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency skos:exactMatch NANDO:2200719 Isolated IgG subclass deficiency semapv:MappingInversion -MONDO:0001341 selective IgA deficiency disease skos:exactMatch NANDO:2200720 Selective IgA deficiency semapv:MappingInversion -MONDO:0015711 obsolete specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells skos:exactMatch NANDO:2200721 Specific antibody deficiency with normal Ig concentrations and normal numbers of B cells semapv:MappingInversion -MONDO:0015698 transient hypogammaglobulinemia of infancy skos:exactMatch NANDO:2200722 Transient hypogammaglobulinemia of infancy with normal numbers of B cells semapv:MappingInversion -MONDO:0008963 Chediak-Higashi syndrome skos:exactMatch NANDO:2200724 Chédiak-Higashi syndrome semapv:MappingInversion -MONDO:0010627 X-linked lymphoproliferative syndrome skos:exactMatch NANDO:2200725 X-linked lymphoproliferative syndrome semapv:MappingInversion -MONDO:0017979 autoimmune lymphoproliferative syndrome skos:exactMatch NANDO:2200726 Autoimmune lymphoproliferative syndrome semapv:MappingInversion -MONDO:0011337 familial hemophagocytic lymphohistiocytosis 2 skos:exactMatch NANDO:2200728 Perforin deficiency semapv:MappingInversion -MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 skos:exactMatch NANDO:2200729 UNC13D/Munc13-4 deficiency semapv:MappingInversion -MONDO:0011336 familial hemophagocytic lymphohistiocytosis 4 skos:exactMatch NANDO:2200730 Syntaxin 11 deficiency semapv:MappingInversion -MONDO:0013135 familial hemophagocytic lymphohistiocytosis 5 skos:exactMatch NANDO:2200731 STXBP2/Munc18-2 deficiency semapv:MappingInversion -MONDO:0011872 Griscelli syndrome type 2 skos:exactMatch NANDO:2200732 Griscelli syndrome type 2 semapv:MappingInversion -MONDO:0011997 Hermansky-Pudlak syndrome 2 skos:exactMatch NANDO:2200733 Hermansky-Pudlak syndrome type 2 semapv:MappingInversion -MONDO:0013081 lymphoproliferative syndrome 1 skos:exactMatch NANDO:2200734 IL-2-inducible T-cell kinase deficiency semapv:MappingInversion -MONDO:0016536 autosomal recessive lymphoproliferative disease skos:exactMatch NANDO:2200735 CD27 deficiency semapv:MappingInversion -MONDO:0011664 immunodeficiency due to CD25 deficiency skos:exactMatch NANDO:2200736 Immunodeficiency 41 with lymphoproliferation and autoimmunity semapv:MappingInversion -MONDO:0100211 growth hormone insensitivity with immune dysregulation 1, autosomal recessive skos:exactMatch NANDO:2200737 STAT5b deficiency semapv:MappingInversion -MONDO:0009411 autoimmune polyendocrine syndrome type 1 skos:exactMatch NANDO:2200738 Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy semapv:MappingInversion -MONDO:0013245 syndromic multisystem autoimmune disease due to ITCH deficiency skos:exactMatch NANDO:2200739 Syndromic multisystem autoimmune disease due to Itch deficiency semapv:MappingInversion -MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B skos:exactMatch NANDO:2200740 Caspase-8 deficiency semapv:MappingInversion -MONDO:0013408 FADD-related immunodeficiency skos:exactMatch NANDO:2200741 Fas-associated death domain protein deficiency semapv:MappingInversion -MONDO:0014253 obsolete autoimmune lymphoproliferative syndrome type 3 skos:exactMatch NANDO:2200743 PKC-δ deficiency semapv:MappingInversion -MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation skos:exactMatch NANDO:2200744 Spondylo enchondro-dysplasiawith immune dysregulation semapv:MappingInversion -MONDO:0018542 severe congenital neutropenia skos:exactMatch NANDO:2200745 Severe congenital neutropenia semapv:MappingInversion -MONDO:0008090 cyclic hematopoiesis skos:exactMatch NANDO:2200746 Cyclic neutropenia semapv:MappingInversion -MONDO:0011405 poikiloderma with neutropenia skos:exactMatch NANDO:2200749 Clericuzio-type poikiloderma with neutropenia syndrome semapv:MappingInversion -MONDO:0008999 Cohen syndrome skos:exactMatch NANDO:2200750 Cohen syndrome semapv:MappingInversion -MONDO:0010543 Barth syndrome skos:exactMatch NANDO:2200751 Barth syndrome semapv:MappingInversion -MONDO:0012559 primary immunodeficiency syndrome due to p14 deficiency skos:exactMatch NANDO:2200752 P14 deficiency semapv:MappingInversion -MONDO:0010294 X-linked severe congenital neutropenia skos:exactMatch NANDO:2200753 X linked severe congenital neutropenia semapv:MappingInversion -MONDO:0009288 glycogen storage disease Ib skos:exactMatch NANDO:2200754 Glycogen storage disease type 1b semapv:MappingInversion -MONDO:0017570 leukocyte adhesion deficiency skos:exactMatch NANDO:2200755 Leukocyte adhesion deficiency semapv:MappingInversion -MONDO:0009833 Shwachman-Diamond syndrome skos:exactMatch NANDO:2200756 Shwachman-Diamond syndrome semapv:MappingInversion -MONDO:0018305 chronic granulomatous disease skos:exactMatch NANDO:2200757 Chronic granulomatous disease semapv:MappingInversion -MONDO:0009694 myeloperoxidase deficiency skos:exactMatch NANDO:2200758 Myeloperoxidase deficiency semapv:MappingInversion -MONDO:0019146 inherited susceptibility to mycobacterial diseases skos:exactMatch NANDO:2200759 Mendelian susceptibility to mycobacterial disease semapv:MappingInversion -MONDO:0010293 ectodermal dysplasia and immune deficiency skos:exactMatch NANDO:2200761 Anhidrotic ectodermal dysplasia with immunodeficiency semapv:MappingInversion -MONDO:0011888 immunodeficiency 67 skos:exactMatch NANDO:2200762 IRAK4 deficiency semapv:MappingInversion -MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency skos:exactMatch NANDO:2200763 MyD88 deficiency semapv:MappingInversion -MONDO:0015279 chronic mucocutaneous candidiasis skos:exactMatch NANDO:2200764 Chronic mucocutaneous candidiasis semapv:MappingInversion -MONDO:0014389 polyglucosan body myopathy 1 with or without immunodeficiency skos:exactMatch NANDO:2200766 HOIL-1 deficiency semapv:MappingInversion -MONDO:0008674 obsolete WHIM syndrome skos:exactMatch NANDO:2200767 WHIM syndrome semapv:MappingInversion -MONDO:0009176 epidermodysplasia verruciformis skos:exactMatch NANDO:2200768 Epidermodysplasia verruciformis semapv:MappingInversion -MONDO:0014715 primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection skos:exactMatch NANDO:2200770 STAT2 deficiency semapv:MappingInversion -MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:exactMatch NANDO:2200771 MCM4 mutation semapv:MappingInversion -MONDO:0012521 herpes simplex encephalitis skos:exactMatch NANDO:2200772 Herpes simplex encephalitis semapv:MappingInversion -MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency skos:exactMatch NANDO:2200773 CARD9 deficiency semapv:MappingInversion -MONDO:0000940 trypanosomiasis skos:exactMatch NANDO:2200774 Trypanosomiasis semapv:MappingInversion -MONDO:0010066 familial isolated congenital asplenia skos:exactMatch NANDO:2200775 Isolated congenital asplenia semapv:MappingInversion -MONDO:0003832 complement deficiency skos:exactMatch NANDO:2200776 Inherited deficiency of complement system semapv:MappingInversion -MONDO:0013343 C1Q deficiency skos:exactMatch NANDO:2200777 C1q deficiency semapv:MappingInversion -MONDO:0013419 complement component C1s deficiency skos:exactMatch NANDO:2200779 C1s deficiency semapv:MappingInversion -MONDO:0009006 complement component 2 deficiency skos:exactMatch NANDO:2200781 C2 deficiency semapv:MappingInversion -MONDO:0013417 complement component 3 deficiency skos:exactMatch NANDO:2200782 C3 deficiency semapv:MappingInversion -MONDO:0012295 complement component 5 deficiency skos:exactMatch NANDO:2200783 C5 deficiency semapv:MappingInversion -MONDO:0012908 complement component 6 deficiency skos:exactMatch NANDO:2200784 C6 deficiency semapv:MappingInversion -MONDO:0012412 complement component 7 deficiency skos:exactMatch NANDO:2200785 C7 deficiency semapv:MappingInversion -MONDO:0013445 complement component 9 deficiency skos:exactMatch NANDO:2200787 C9 deficiency semapv:MappingInversion -MONDO:0013487 recurrent Neisseria infections due to factor D deficiency skos:exactMatch NANDO:2200788 Factor D deficiency semapv:MappingInversion -MONDO:0010713 properdin deficiency, X-linked skos:exactMatch NANDO:2200789 Properdin deficiency semapv:MappingInversion -MONDO:0012594 complement factor I deficiency skos:exactMatch NANDO:2200790 Factor I deficiency semapv:MappingInversion -MONDO:0012350 complement factor H deficiency skos:exactMatch NANDO:2200791 Factor H deficiency semapv:MappingInversion -MONDO:0017398 3MC syndrome skos:exactMatch NANDO:2200792 Malpuech-Michels-Mingarelli-Carnevale syndrome semapv:MappingInversion -MONDO:0013423 immunodeficiency due to MASP-2 deficiency skos:exactMatch NANDO:2200793 MASP2 deficiency semapv:MappingInversion -MONDO:0013467 immunodeficiency due to ficolin3 deficiency skos:exactMatch NANDO:2200794 Ficolin 3 Deficiency semapv:MappingInversion -MONDO:0007361 C1 inhibitor deficiency skos:exactMatch NANDO:2200795 Hereditary angioedema semapv:MappingInversion -MONDO:0019623 hereditary angioedema skos:exactMatch NANDO:2200795 Hereditary angioedema semapv:MappingInversion -MONDO:0014255 complement factor b deficiency skos:exactMatch NANDO:2200797 Factor B deficiency semapv:MappingInversion -MONDO:0012594 complement factor I deficiency skos:exactMatch NANDO:2200798 Factor I deficiency semapv:MappingInversion -MONDO:0012584 systemic lupus erythematosus, susceptibility to, 9 skos:exactMatch NANDO:2200801 CD21 deficiency semapv:MappingInversion -MONDO:0013862 immunodeficiency, common variable, 7 skos:exactMatch NANDO:2200801 CD21 deficiency semapv:MappingInversion -MONDO:0013040 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly skos:exactMatch NANDO:2200803 CD46 deficiency semapv:MappingInversion -MONDO:0012858 primary CD59 deficiency skos:exactMatch NANDO:2200804 Primary CD59 deficiency semapv:MappingInversion -MONDO:0015691 hypereosinophilic syndrome skos:exactMatch NANDO:2200805 Hyper eosinophilic syndrome semapv:MappingInversion -MONDO:0015691 hypereosinophilic syndrome skos:exactMatch NANDO:2200806 Hypereosinophilic syndrome semapv:MappingInversion -MONDO:0018438 eosinophilic gastrointestinal disease skos:exactMatch NANDO:2200807 Eosinophilic gastrointestinal disorders semapv:MappingInversion -MONDO:0009194 immunodeficiency 32B skos:exactMatch NANDO:2200808 Chronic active EB virus infection semapv:MappingInversion -MONDO:0012268 AIDS skos:exactMatch NANDO:2200809 Acquired immune deficiency syndrome semapv:MappingInversion -MONDO:0005109 HIV infectious disease skos:exactMatch NANDO:2200810 HIV infection semapv:MappingInversion -MONDO:0020547 chronic graft versus host disease skos:exactMatch NANDO:2200812 Chronic graft-versus-host disease semapv:MappingInversion -MONDO:0017079 meningoencephalocele skos:exactMatch NANDO:2200813 Meningoencephalocele semapv:MappingInversion -MONDO:0017069 spina bifida cystica skos:exactMatch NANDO:2200814 Myelomeningocele semapv:MappingInversion -MONDO:0019773 myelomeningocele skos:exactMatch NANDO:2200814 Myelomeningocele semapv:MappingInversion -MONDO:0001790 spinal cord lipoma skos:exactMatch NANDO:2200815 Spinal lipoma semapv:MappingInversion -MONDO:0042727 sacrococcygeal teratoma skos:exactMatch NANDO:2200816 Sacrococcygeal teratoma semapv:MappingInversion -MONDO:0018838 lissencephaly spectrum disorders skos:exactMatch NANDO:2200817 Lissencephaly semapv:MappingInversion -MONDO:0010011 schizencephaly skos:exactMatch NANDO:2200818 Schizencephaly semapv:MappingInversion -MONDO:0016296 holoprosencephaly skos:exactMatch NANDO:2200819 Holoprosencephaly semapv:MappingInversion -MONDO:0008428 septooptic dysplasia skos:exactMatch NANDO:2200820 Septo-optic dysplasia semapv:MappingInversion -MONDO:0009072 Dandy-Walker syndrome skos:exactMatch NANDO:2200821 Dandy-Walker syndrome semapv:MappingInversion -MONDO:0016349 congenital hydrocephalus skos:exactMatch NANDO:2200822 Congenital hydrocephalus semapv:MappingInversion -MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome skos:exactMatch NANDO:2200823 Megalencephaly-capillary malformation syndrome semapv:MappingInversion -MONDO:0015369 Joubert syndrome and related disorders skos:exactMatch NANDO:2200824 Joubert syndrome related disorders semapv:MappingInversion -MONDO:0010726 Rett syndrome skos:exactMatch NANDO:2200825 Rett syndrome semapv:MappingInversion -MONDO:0001734 tuberous sclerosis skos:exactMatch NANDO:2200826 Tuberous sclerosis complex semapv:MappingInversion -MONDO:0019341 obsolete tuberous sclerosis complex skos:exactMatch NANDO:2200826 Tuberous sclerosis complex semapv:MappingInversion -MONDO:0009578 neurocutaneous melanocytosis skos:exactMatch NANDO:2200827 Neurocutaneous melanosis semapv:MappingInversion -MONDO:0007187 nevoid basal cell carcinoma syndrome skos:exactMatch NANDO:2200828 Gorlin syndrome semapv:MappingInversion -MONDO:0008667 von Hippel-Lindau disease skos:exactMatch NANDO:2200829 von Hippel-Lindau disease semapv:MappingInversion -MONDO:0008501 Sturge-Weber syndrome skos:exactMatch NANDO:2200830 Sturge-Weber syndrome semapv:MappingInversion -MONDO:0010196 Werner syndrome skos:exactMatch NANDO:2200831 Werner syndrome semapv:MappingInversion -MONDO:0016006 Cockayne syndrome skos:exactMatch NANDO:2200832 Cockayne syndrome semapv:MappingInversion -MONDO:0008310 Hutchinson-Gilford progeria syndrome skos:exactMatch NANDO:2200833 Hutchinson-Gilford syndrome semapv:MappingInversion -MONDO:0010079 Canavan disease skos:exactMatch NANDO:2200834 Canavan disease semapv:MappingInversion -MONDO:0008752 Alexander disease skos:exactMatch NANDO:2200835 Alexander disease semapv:MappingInversion -MONDO:0019046 leukodystrophy skos:exactMatch NANDO:2200836 Congenital hypomyelinating leukodystrophy semapv:MappingInversion -MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts skos:exactMatch NANDO:2200837 Megaloencephalic leukoencephalopathy with subcortical cysts semapv:MappingInversion -MONDO:0011380 obsolete leukoencephalopathy with vanishing white matter skos:exactMatch NANDO:2200838 Vanishing white matter disease semapv:MappingInversion -MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:exactMatch NANDO:2200839 ATR-X syndrome semapv:MappingInversion -MONDO:0010383 fragile X syndrome skos:exactMatch NANDO:2200840 Fragile X syndrome semapv:MappingInversion -MONDO:0000456 cerebral creatine deficiency syndrome skos:exactMatch NANDO:2200842 Cerebral creatine deficiency syndrome semapv:MappingInversion -MONDO:0015337 isolated craniosynostosis skos:exactMatch NANDO:2200843 Non-syndromic craniosynostosis semapv:MappingInversion -MONDO:0007041 Apert syndrome skos:exactMatch NANDO:2200844 Apert syndrome semapv:MappingInversion -MONDO:0007405 Crouzon syndrome skos:exactMatch NANDO:2200845 Crouzon disease semapv:MappingInversion -MONDO:0019012 Carpenter syndrome skos:exactMatch NANDO:2200847 Carpenter syndrome semapv:MappingInversion -MONDO:0007042 Saethre-Chotzen syndrome skos:exactMatch NANDO:2200848 Saethre-Chotzen syndrome semapv:MappingInversion -MONDO:0016820 Moyamoya disease skos:exactMatch NANDO:2200850 Moyamoya disease semapv:MappingInversion -MONDO:0007154 arteriovenous malformations of the brain skos:exactMatch NANDO:2200851 Cerebral arteriovenous malformation semapv:MappingInversion -MONDO:0002327 intracranial cavernous angioma skos:exactMatch NANDO:2200852 Cavernous angioma of the brain and spinal cord semapv:MappingInversion -MONDO:0001516 spinal muscular atrophy skos:exactMatch NANDO:2200853 Spinal muscular atrophy semapv:MappingInversion -MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 skos:exactMatch NANDO:2200854 Congenital insensitivity to pain with anhidrosis semapv:MappingInversion -MONDO:0015358 hereditary motor and sensory neuropathy skos:exactMatch NANDO:2200855 Hereditary Motor and Sensory Neuropathy semapv:MappingInversion -MONDO:0015626 Charcot-Marie-Tooth disease skos:exactMatch NANDO:2200855 Hereditary Motor and Sensory Neuropathy semapv:MappingInversion -MONDO:0010679 Duchenne muscular dystrophy skos:exactMatch NANDO:2200856 Duchenne muscular dystrophy semapv:MappingInversion -MONDO:0016830 Emery-Dreifuss muscular dystrophy skos:exactMatch NANDO:2200857 Emery-Dreifuss muscular dystrophy semapv:MappingInversion -MONDO:0016971 limb-girdle muscular dystrophy skos:exactMatch NANDO:2200858 Limb-girdle muscular dystrophy semapv:MappingInversion -MONDO:0001347 facioscapulohumeral muscular dystrophy skos:exactMatch NANDO:2200859 Facioscapulohumeral muscular dystrophy semapv:MappingInversion -MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 skos:exactMatch NANDO:2200860 Fukuyama type congenital muscular dystrophy semapv:MappingInversion -MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A skos:exactMatch NANDO:2200861 Merosin-deficient congenital muscular dystrophy semapv:MappingInversion -MONDO:0000355 Ullrich congenital muscular dystrophy skos:exactMatch NANDO:2200862 Ullrich congenital muscular dystrophy semapv:MappingInversion -MONDO:0016107 myotonic dystrophy skos:exactMatch NANDO:2200864 Myotonic dystrophy semapv:MappingInversion -MONDO:0010311 Becker muscular dystrophy skos:exactMatch NANDO:2200865 Becker muscular dystrophy semapv:MappingInversion -MONDO:0013178 congenital muscular dystrophy due to LMNA mutation skos:exactMatch NANDO:2200866 LMNA-related congenital muscular dystrophy semapv:MappingInversion -MONDO:0002921 congenital structural myopathy skos:exactMatch NANDO:2200867 Myotubular myopathy semapv:MappingInversion -MONDO:0018947 centronuclear myopathy skos:exactMatch NANDO:2200867 Myotubular myopathy semapv:MappingInversion -MONDO:0009711 congenital fiber-type disproportion myopathy skos:exactMatch NANDO:2200868 Congenital fiber-type disproportion myopathy semapv:MappingInversion -MONDO:0018958 nemaline myopathy skos:exactMatch NANDO:2200869 Nemaline myopathy semapv:MappingInversion -MONDO:0007294 central core myopathy skos:exactMatch NANDO:2200870 Central core disease semapv:MappingInversion -MONDO:0018948 multiminicore myopathy skos:exactMatch NANDO:2200871 Multicore disease semapv:MappingInversion -MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia skos:exactMatch NANDO:2200872 Minicore myopathy semapv:MappingInversion -MONDO:0019948 reducing body myopathy skos:exactMatch NANDO:2200875 Reducing body myopathy semapv:MappingInversion -MONDO:0009717 Schwartz-Jampel syndrome skos:exactMatch NANDO:2200876 Schwartz-Jampel syndrome semapv:MappingInversion -MONDO:0100135 Dravet syndrome skos:exactMatch NANDO:2200877 Severe myoclonic epilepsy in infancy semapv:MappingInversion -MONDO:0018097 West syndrome skos:exactMatch NANDO:2200878 West syndrome semapv:MappingInversion -MONDO:0016532 Lennox-Gastaut syndrome skos:exactMatch NANDO:2200879 Lennox-Gastaut syndrome semapv:MappingInversion -MONDO:0009698 Unverricht-Lundborg syndrome skos:exactMatch NANDO:2200880 Unverricht-Lundborg disease semapv:MappingInversion -MONDO:0009697 Lafora disease skos:exactMatch NANDO:2200881 Lafora disease semapv:MappingInversion -MONDO:0000437 cerebellar ataxia skos:exactMatch NANDO:2200882 Spinocerebellar degeneration semapv:MappingInversion -MONDO:0016241 alternating hemiplegia of childhood skos:exactMatch NANDO:2200883 Alternating hemiplegia of childhood semapv:MappingInversion -MONDO:0007492 early-onset generalized limb-onset dystonia skos:exactMatch NANDO:2200884 Dystonia musculorum deformans semapv:MappingInversion -MONDO:0016812 dopa-responsive dystonia skos:exactMatch NANDO:2200885 Segawa syndrome semapv:MappingInversion -MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:exactMatch NANDO:2200886 Pantothenate kinase-associated neurodegeneration semapv:MappingInversion -MONDO:0009739 obsolete infantile neuroaxonal dystrophy skos:exactMatch NANDO:2200887 Infantile neuroaxonal dystrophy semapv:MappingInversion -MONDO:0015518 infantile bilateral striatal necrosis skos:exactMatch NANDO:2200888 Infantile bilateral striatal necrosis semapv:MappingInversion -MONDO:0017381 congenital herpes simplex virus infection skos:exactMatch NANDO:2200889 Congenital herpes simplex virus infection semapv:MappingInversion -MONDO:0005713 obsolete MONDO:0005713 skos:exactMatch NANDO:2200890 Congenital rubella syndrome semapv:MappingInversion -MONDO:0017361 congenital rubella syndrome skos:exactMatch NANDO:2200890 Congenital rubella syndrome semapv:MappingInversion -MONDO:0017409 fetal cytomegalovirus syndrome skos:exactMatch NANDO:2200891 Congenital cytomegalovirus infection semapv:MappingInversion -MONDO:0005715 congenital toxoplasmosis skos:exactMatch NANDO:2200892 Congenital toxoplasmosis semapv:MappingInversion -MONDO:0018866 Aicardi-Goutieres syndrome skos:exactMatch NANDO:2200893 Aicardi-Goutières Syndrome semapv:MappingInversion -MONDO:0012429 Aicardi-Goutieres syndrome 2 skos:exactMatch NANDO:2200894 Aicardi-Goutieres syndrome 2 semapv:MappingInversion -MONDO:0012471 Aicardi-Goutieres syndrome 3 skos:exactMatch NANDO:2200895 Aicardi-Goutieres syndrome 3 semapv:MappingInversion -MONDO:0013059 Aicardi-Goutieres syndrome 5 skos:exactMatch NANDO:2200897 Aicardi-Goutieres syndrome 5 semapv:MappingInversion -MONDO:0014007 Aicardi-Goutieres syndrome 6 skos:exactMatch NANDO:2200898 Aicardi-Goutieres syndrome 6 semapv:MappingInversion -MONDO:0009835 subacute sclerosing panencephalitis skos:exactMatch NANDO:2200899 Subacute sclerosing panencephalitis semapv:MappingInversion -MONDO:0016019 Rasmussen subacute encephalitis skos:exactMatch NANDO:2200900 Rasmussen's encephalitis semapv:MappingInversion -MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion skos:exactMatch NANDO:2200901 Acute encephalopathy with biphasic seizures and late reduced diffusion semapv:MappingInversion -MONDO:0020640 autoimmune encephalitis skos:exactMatch NANDO:2200902 Autoimmune encephalitis semapv:MappingInversion -MONDO:0015584 febrile infection-related epilepsy syndrome skos:exactMatch NANDO:2200903 Acute encephalitis with refractory, repetitive partial seizures semapv:MappingInversion -MONDO:0005301 multiple sclerosis skos:exactMatch NANDO:2200904 Multiple sclerosis semapv:MappingInversion -MONDO:0002335 chronic inflammatory demyelinating polyneuritis skos:exactMatch NANDO:2200905 Chronic inflammatory demyelinating polyneuropathy semapv:MappingInversion -MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy skos:exactMatch NANDO:2200905 Chronic inflammatory demyelinating polyneuropathy semapv:MappingInversion -MONDO:0007691 Guillain-Barre syndrome, familial skos:exactMatch NANDO:2200905 Chronic inflammatory demyelinating polyneuropathy semapv:MappingInversion -MONDO:0009688 myasthenia gravis skos:exactMatch NANDO:2200906 Myasthenia gravis semapv:MappingInversion -MONDO:0009116 obsolete lactose intolerance skos:exactMatch NANDO:2200907 Lactose intolerance semapv:MappingInversion -MONDO:0009114 congenital sucrase-isomaltase deficiency skos:exactMatch NANDO:2200908 Congenital sucrase-isomaltase deficiency semapv:MappingInversion -MONDO:0011731 glucose-galactose malabsorption skos:exactMatch NANDO:2200909 Glucose-galactose malabsorption semapv:MappingInversion -MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency skos:exactMatch NANDO:2200910 Enterokinase deficiency semapv:MappingInversion -MONDO:0015169 chronic diarrhea due to glucoamylase deficiency skos:exactMatch NANDO:2200911 Amylase deficiency semapv:MappingInversion -MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:exactMatch NANDO:2200912 Lipase deficiency semapv:MappingInversion -MONDO:0009635 microvillus inclusion disease skos:exactMatch NANDO:2200913 Microvillus inclusion disease semapv:MappingInversion -MONDO:0018178 intestinal lymphangiectasia skos:exactMatch NANDO:2200914 Intestinal lymphangiectasia semapv:MappingInversion -MONDO:0021055 classic familial adenomatous polyposis skos:exactMatch NANDO:2200915 Familial adenomatous polyposis semapv:MappingInversion -MONDO:0017380 juvenile polyposis syndrome skos:exactMatch NANDO:2200916 Juvenile polyposis semapv:MappingInversion -MONDO:0008280 Peutz-Jeghers syndrome skos:exactMatch NANDO:2200917 Peutz-Jeghers syndrome semapv:MappingInversion -MONDO:0016063 Cowden disease skos:exactMatch NANDO:2200918 Cowden syndrome semapv:MappingInversion -MONDO:0010778 cyclic vomiting syndrome skos:exactMatch NANDO:2200919 Cyclic vomiting syndrome semapv:MappingInversion -MONDO:0005101 ulcerative colitis skos:exactMatch NANDO:2200920 Ulcerative colitis semapv:MappingInversion -MONDO:0005011 Crohn disease skos:exactMatch NANDO:2200921 Crohn's disease semapv:MappingInversion -MONDO:0019787 autoimmune enteropathy skos:exactMatch NANDO:2200923 Autoimmune enteropathy semapv:MappingInversion -MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome skos:exactMatch NANDO:2200924 IPEX syndrome semapv:MappingInversion -MONDO:0018766 chronic enteropathy associated with SLCO2A1 gene skos:exactMatch NANDO:2200925 Chronic nonspecific multiple ulcers of the small intestine semapv:MappingInversion -MONDO:0008867 biliary atresia skos:exactMatch NANDO:2200930 biliary atresia semapv:MappingInversion -MONDO:0028737 obsolete biliary atresia disorder skos:exactMatch NANDO:2200930 biliary atresia semapv:MappingInversion -MONDO:0007318 Alagille syndrome skos:exactMatch NANDO:2200931 Alagille syndrome semapv:MappingInversion -MONDO:0015762 progressive familial intrahepatic cholestasis skos:exactMatch NANDO:2200933 Progressive familial intrahepatic cholestasis semapv:MappingInversion -MONDO:0010913 Caroli disease skos:exactMatch NANDO:2200934 Caroli disease semapv:MappingInversion -MONDO:0018808 Caroli syndrome skos:exactMatch NANDO:2200934 Caroli disease semapv:MappingInversion -MONDO:0018840 isolated congenital hepatic fibrosis skos:exactMatch NANDO:2200936 Congenital hepatic fibrosis semapv:MappingInversion -MONDO:0005155 cirrhosis of liver skos:exactMatch NANDO:2200937 Liver cirrhosis semapv:MappingInversion -MONDO:0009044 Crigler-Najjar syndrome skos:exactMatch NANDO:2200941 Crigler-Najjar syndrome semapv:MappingInversion -MONDO:0008185 hereditary chronic pancreatitis skos:exactMatch NANDO:2200942 Hereditary pancreatitis semapv:MappingInversion -MONDO:0015175 autoimmune pancreatitis skos:exactMatch NANDO:2200943 Autoimmune pancreatitis semapv:MappingInversion -MONDO:0015183 short bowel syndrome skos:exactMatch NANDO:2200944 Short bowel syndrome semapv:MappingInversion -MONDO:0018309 Hirschsprung disease skos:exactMatch NANDO:2200945 Hirschsprung disease semapv:MappingInversion -MONDO:0017574 chronic intestinal pseudoobstruction skos:exactMatch NANDO:2200946 Chronic idiopathic intestinal pseudo-obstruction semapv:MappingInversion -MONDO:0007960 obsolete megacystis-microcolon-intestinal hypoperistalsis syndrome skos:exactMatch NANDO:2200947 Megacystis-microcolon-intestinal hypoperistalsis syndrome semapv:MappingInversion -MONDO:0008738 aganglionosis, total intestinal skos:exactMatch NANDO:2200948 Congenital Isolated Hypoganglionosis semapv:MappingInversion -MONDO:0018309 Hirschsprung disease skos:exactMatch NANDO:2200948 Congenital Isolated Hypoganglionosis semapv:MappingInversion -MONDO:0009774 cloacal exstrophy skos:exactMatch NANDO:2200950 Persistent cloaca semapv:MappingInversion -MONDO:0009774 cloacal exstrophy skos:exactMatch NANDO:2200951 Cloacal exstrophy semapv:MappingInversion -MONDO:0010561 Coffin-Lowry syndrome skos:exactMatch NANDO:2200952 Coffin-Lowry syndrome semapv:MappingInversion -MONDO:0019349 Sotos syndrome skos:exactMatch NANDO:2200953 Sotos syndrome semapv:MappingInversion -MONDO:0008434 Smith-Magenis syndrome skos:exactMatch NANDO:2200954 Smith-Magenis syndrome semapv:MappingInversion -MONDO:0019188 Rubinstein-Taybi syndrome skos:exactMatch NANDO:2200955 Rubinstein-Taybi syndrome semapv:MappingInversion -MONDO:0016512 Kabuki syndrome skos:exactMatch NANDO:2200956 Kabuki syndrome semapv:MappingInversion -MONDO:0010193 Weaver syndrome skos:exactMatch NANDO:2200957 Weaver syndrome semapv:MappingInversion -MONDO:0016033 Cornelia de Lange syndrome skos:exactMatch NANDO:2200958 Cornelia de Lange syndrome semapv:MappingInversion -MONDO:0007534 Beckwith-Wiedemann syndrome skos:exactMatch NANDO:2200959 Beckwith-Wiedemann syndrome semapv:MappingInversion -MONDO:0007113 Angelman syndrome skos:exactMatch NANDO:2200960 Angelman syndrome semapv:MappingInversion -MONDO:0007404 Cri-du-chat syndrome skos:exactMatch NANDO:2200961 5p- syndrome semapv:MappingInversion -MONDO:0008684 Wolf-Hirschhorn syndrome skos:exactMatch NANDO:2200962 4p- Syndrome semapv:MappingInversion -MONDO:0018071 trisomy 18 skos:exactMatch NANDO:2200963 Trisomy 18 semapv:MappingInversion -MONDO:0018068 trisomy 13 skos:exactMatch NANDO:2200964 Trisomy 13 semapv:MappingInversion -MONDO:0008608 Down syndrome skos:exactMatch NANDO:2200965 Down syndrome semapv:MappingInversion -MONDO:0015280 cardiofaciocutaneous syndrome skos:exactMatch NANDO:2200967 CFC Syndrome semapv:MappingInversion -MONDO:0007947 Marfan syndrome skos:exactMatch NANDO:2200968 Marfan syndrome semapv:MappingInversion -MONDO:0018954 Loeys-Dietz syndrome skos:exactMatch NANDO:2200969 Loeys-Dietz syndrome semapv:MappingInversion -MONDO:0007542 Camurati-Engelmann disease skos:exactMatch NANDO:2200970 Camurati-Engelmann disease semapv:MappingInversion -MONDO:0009026 Costello syndrome skos:exactMatch NANDO:2200971 Costello syndrome semapv:MappingInversion -MONDO:0008965 CHARGE syndrome skos:exactMatch NANDO:2200972 CHARGE syndrome semapv:MappingInversion -MONDO:0009318 Hallermann-Streiff syndrome skos:exactMatch NANDO:2200973 Hallermann-Streiff syndrome semapv:MappingInversion -MONDO:0010631 incontinentia pigmenti skos:exactMatch NANDO:2200974 Incontinentia pigmenti semapv:MappingInversion -MONDO:0008803 Antley-Bixler syndrome skos:exactMatch NANDO:2200975 Antley-Bixler syndrome semapv:MappingInversion -MONDO:0005810 infectious mononucleosis skos:exactMatch NANDO:2200976 Pfeiffer syndrome semapv:MappingInversion -MONDO:0007043 Pfeiffer syndrome skos:exactMatch NANDO:2200976 Pfeiffer syndrome semapv:MappingInversion -MONDO:0015452 Coffin-Siris syndrome skos:exactMatch NANDO:2200977 Coffin-Siris syndrome semapv:MappingInversion -MONDO:0010731 Simpson-Golabi-Behmel syndrome skos:exactMatch NANDO:2200978 Simpson-Golabi-Behmel syndrome semapv:MappingInversion -MONDO:0010035 Smith-Lemli-Opitz syndrome skos:exactMatch NANDO:2200979 Smith-Lemli-Opitz syndrome semapv:MappingInversion -MONDO:0008006 Mobius syndrome skos:exactMatch NANDO:2200980 Moebius syndrome semapv:MappingInversion -MONDO:0009341 Mowat-Wilson syndrome skos:exactMatch NANDO:2200981 Mowat-Wilson syndrome semapv:MappingInversion -MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type skos:exactMatch NANDO:2200982 Young-Simpson syndrome semapv:MappingInversion -MONDO:0008642 VACTERL/vater association skos:exactMatch NANDO:2200983 VATER syndrome semapv:MappingInversion -MONDO:0010283 syndromic X-linked intellectual disability Lubs type skos:exactMatch NANDO:2200984 MECP2 duplication syndrome semapv:MappingInversion -MONDO:0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome skos:exactMatch NANDO:2200985 Takenouchi-Kosaki syndrome semapv:MappingInversion -MONDO:0018910 oculocutaneous albinism skos:exactMatch NANDO:2200986 Oculocutaneous albinism semapv:MappingInversion -MONDO:0017266 keratinopathic ichthyosis skos:exactMatch NANDO:2200987 Keratinopathic ichthyosis semapv:MappingInversion -MONDO:0020702 autosomal dominant epidermolytic ichthyosis skos:exactMatch NANDO:2200988 Autosomal dominant epidermolytic ichthyosis semapv:MappingInversion -MONDO:0044742 autosomal recessive epidermolytic ichthyosis skos:exactMatch NANDO:2200989 Autosomal recessive epidermolytic ichthyosis semapv:MappingInversion -MONDO:0007813 superficial epidermolytic ichthyosis skos:exactMatch NANDO:2200990 Superficial epidermolytic ichthyosis semapv:MappingInversion -MONDO:0017265 autosomal recessive congenital ichthyosis skos:exactMatch NANDO:2200991 Autosomal recessive congenital ichthyosis semapv:MappingInversion -MONDO:0009443 autosomal recessive congenital ichthyosis 4B skos:exactMatch NANDO:2200992 Harlequin ichthyosis semapv:MappingInversion -MONDO:0009735 Netherton syndrome skos:exactMatch NANDO:2200993 Netherton syndrome semapv:MappingInversion -MONDO:0010031 Sjogren-Larsson syndrome skos:exactMatch NANDO:2200994 Sjögren-Larsson syndrome semapv:MappingInversion -MONDO:0018781 KID syndrome skos:exactMatch NANDO:2200996 Keratitis-ichthyosis-deafness syndrome semapv:MappingInversion -MONDO:0010155 Dorfman-Chanarin disease skos:exactMatch NANDO:2200997 Dorfman-Chanarin syndrome semapv:MappingInversion -MONDO:0015611 neutral lipid storage disease skos:exactMatch NANDO:2200997 Dorfman-Chanarin syndrome semapv:MappingInversion -MONDO:0010621 CHILD syndrome skos:exactMatch NANDO:2200998 CHILD syndrome semapv:MappingInversion -MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome skos:exactMatch NANDO:2200999 Ichthyosis-follicularis-atrichia-photophobia syndrome semapv:MappingInversion -MONDO:0006541 epidermolysis bullosa skos:exactMatch NANDO:2201000 Epidermolysis bullosa semapv:MappingInversion -MONDO:0022205 pustular psoriasis skos:exactMatch NANDO:2201001 Pustular psoriasis semapv:MappingInversion -MONDO:0019600 xeroderma pigmentosum skos:exactMatch NANDO:2201002 Xeroderma pigmentosum semapv:MappingInversion -MONDO:0018975 neurofibromatosis type 1 skos:exactMatch NANDO:2201003 von Recklinghausen's disease semapv:MappingInversion -MONDO:0021061 neurofibromatosis skos:exactMatch NANDO:2201003 von Recklinghausen's disease semapv:MappingInversion -MONDO:0009799 obsolete pachydermoperiostosis skos:exactMatch NANDO:2201004 Pachydermoperiostosis semapv:MappingInversion -MONDO:0016620 primary hypertrophic osteoarthropathy skos:exactMatch NANDO:2201004 Pachydermoperiostosis semapv:MappingInversion -MONDO:0016535 hypohidrotic ectodermal dysplasia skos:exactMatch NANDO:2201005 Anhidrotic ectodermal dysplasia semapv:MappingInversion -MONDO:0018229 Stevens-Johnson syndrome skos:exactMatch NANDO:2201006 Stevens-Johnson syndrome semapv:MappingInversion -MONDO:0019810 toxic epidermal necrolysis skos:exactMatch NANDO:2201007 Toxic epidermal necrolysis semapv:MappingInversion -MONDO:0015929 thoracic malformation skos:exactMatch NANDO:2201008 Thoracic insufficiency syndrome semapv:MappingInversion -MONDO:0007037 Achondroplasia skos:exactMatch NANDO:2201009 Achondroplasia semapv:MappingInversion -MONDO:0007793 hypochondroplasia skos:exactMatch NANDO:2201010 Hypochondroplasia semapv:MappingInversion -MONDO:0019019 osteogenesis imperfecta skos:exactMatch NANDO:2201011 Osteogenesis imperfecta semapv:MappingInversion -MONDO:0018570 hypophosphatasia skos:exactMatch NANDO:2201012 Hypophosphatasia semapv:MappingInversion -MONDO:0017198 osteopetrosis skos:exactMatch NANDO:2201013 Osteopetrosis semapv:MappingInversion -MONDO:0005508 hereditary multiple osteochondromas skos:exactMatch NANDO:2201014 Multiple cartilaginous exostosis semapv:MappingInversion -MONDO:0005508 hereditary multiple osteochondromas skos:exactMatch NANDO:2201015 Enchondromatosis semapv:MappingInversion -MONDO:0008145 Ollier disease skos:exactMatch NANDO:2201015 Enchondromatosis semapv:MappingInversion -MONDO:0015627 multiple epiphyseal dysplasia due to collagen 9 anomaly skos:exactMatch NANDO:2201016 Type II collagenopathy semapv:MappingInversion -MONDO:0016068 fibrochondrogenesis skos:exactMatch NANDO:2201016 Type II collagenopathy semapv:MappingInversion -MONDO:0022800 type 2 collagenopathy skos:exactMatch NANDO:2201016 Type II collagenopathy semapv:MappingInversion -MONDO:0019701 chondrodysplasia punctata skos:exactMatch NANDO:2201017 Chondrodysplasia punctata semapv:MappingInversion -MONDO:0008322 pseudoachondroplasia skos:exactMatch NANDO:2201018 Pseudoachondroplasia semapv:MappingInversion -MONDO:0007875 Larsen syndrome skos:exactMatch NANDO:2201019 Larsen syndrome semapv:MappingInversion -MONDO:0003964 myositis ossificans skos:exactMatch NANDO:2201020 Fibrodysplasia ossificans progressiva semapv:MappingInversion -MONDO:0007606 fibrodysplasia ossificans progressiva skos:exactMatch NANDO:2201020 Fibrodysplasia ossificans progressiva semapv:MappingInversion -MONDO:0018240 TRPV4-related bone disorder skos:exactMatch NANDO:2201021 Transient receptor potential cation channel, vanilloid subfamily, member 4 -associated disorders semapv:MappingInversion -MONDO:0002933 osteosclerosis skos:exactMatch NANDO:2201022 Osteosclerotic diseases semapv:MappingInversion -MONDO:0009940 pycnodysostosis skos:exactMatch NANDO:2201023 Pycnodysostosis semapv:MappingInversion -MONDO:0001414 osteopoikilosis skos:exactMatch NANDO:2201024 Osteopoikilosis semapv:MappingInversion -MONDO:0007363 congenital contractural arachnodactyly skos:exactMatch NANDO:2201026 Beals syndrome semapv:MappingInversion -MONDO:0007203 blue rubber bleb nevus skos:exactMatch NANDO:2201027 Blue rubber bleb nevus syndrome semapv:MappingInversion -MONDO:0007864 angioosteohypertrophic syndrome skos:exactMatch NANDO:2201030 Klippel-Trenaunay-Weber syndrome semapv:MappingInversion -MONDO:0019175 primary lymphedema skos:exactMatch NANDO:2201031 Primary lymphedema semapv:MappingInversion -MONDO:0002013 lymphangioma skos:exactMatch NANDO:2201032 Lymphangioma semapv:MappingInversion -MONDO:0015408 diffuse lymphatic malformation skos:exactMatch NANDO:2201033 Lymphangiomatosis semapv:MappingInversion -MONDO:0019180 hereditary hemorrhagic telangiectasia skos:exactMatch NANDO:2201034 Hereditary hemorrhagic telangiectasia semapv:MappingInversion -MONDO:0007708 Kasabach-Merritt syndrome skos:exactMatch NANDO:2201035 Kasabach-Merritt syndrome semapv:MappingInversion -MONDO:0003075 bilateral retinoblastoma skos:exactMatch NANDO:2201038 Bilateral retinoblastoma semapv:MappingInversion -MONDO:0008888 Williams-Campbell syndrome skos:exactMatch NANDO:2201040 Bronchomalacia semapv:MappingInversion -MONDO:0005045 hypertrophic cardiomyopathy skos:exactMatch NANDO:2201042 Hypertrophic obstructive cardiomyopathy semapv:MappingInversion -MONDO:0017147 idiopathic pulmonary arterial hypertension skos:exactMatch NANDO:2201046 Idiopathic pulmonary arterial hypertension semapv:MappingInversion -MONDO:0017148 heritable pulmonary arterial hypertension skos:exactMatch NANDO:2201047 Familial pulmonary arterial hypertension semapv:MappingInversion -MONDO:0017150 obsolete pulmonary arterial hypertension associated with another disease skos:exactMatch NANDO:2201048 Secondary pulmonary arterial hypertension semapv:MappingInversion -MONDO:0007450 neurohypophyseal diabetes insipidus skos:exactMatch NANDO:2201050 Familial central diabetes insipidus semapv:MappingInversion -MONDO:0008234 multiple endocrine neoplasia type 2A skos:exactMatch NANDO:2201052 Multiple endocrine neoplasia type 2A semapv:MappingInversion -MONDO:0008082 multiple endocrine neoplasia type 2B skos:exactMatch NANDO:2201053 Multiple endocrine neoplasia type 2B semapv:MappingInversion -MONDO:0015277 medullary thyroid gland carcinoma skos:exactMatch NANDO:2201054 Medullary thyroid carcinoma semapv:MappingInversion -MONDO:0019434 systemic-onset juvenile idiopathic arthritis skos:exactMatch NANDO:2201055 Systemic juvenile idiopathic arthritis semapv:MappingInversion -MONDO:0019433 oligoarticular juvenile idiopathic arthritis skos:exactMatch NANDO:2201056 Oligoarticular juvenile idiopathic arthritis semapv:MappingInversion -MONDO:0043152 negative rheumatoid factor polyarthritis skos:exactMatch NANDO:2201057 Rheumatoid factor-negative juvenile idiopathic arthritis semapv:MappingInversion -MONDO:0019435 rheumatoid factor-positive polyarticular juvenile idiopathic arthritis skos:exactMatch NANDO:2201058 Rheumatoid factor-positive juvenile idiopathic arthritis semapv:MappingInversion -MONDO:0011849 psoriatic arthritis skos:exactMatch NANDO:2201059 Psoriatic juvenile idiopathic arthritis semapv:MappingInversion -MONDO:0019437 enthesitis-related juvenile idiopathic arthritis skos:exactMatch NANDO:2201060 Enthesitis-related juvenile idiopathic arthritis semapv:MappingInversion -MONDO:0019607 unspecified juvenile idiopathic arthritis skos:exactMatch NANDO:2201061 Unclassifiable Juvenile idiopathic arthritis semapv:MappingInversion -MONDO:0011776 CINCA syndrome skos:exactMatch NANDO:2201066 Chronic infantile neurological cutaneous articular syndrome semapv:MappingInversion -MONDO:0008633 Muckle-Wells syndrome skos:exactMatch NANDO:2201067 Muckle-Wells syndrome semapv:MappingInversion -MONDO:0018768 familial cold autoinflammatory syndrome skos:exactMatch NANDO:2201068 familial cold autoinflammatory syndrome semapv:MappingInversion -MONDO:0007452 maturity-onset diabetes of the young type 1 skos:exactMatch NANDO:2201069 Maturity-onset diabetes of the young type 1 semapv:MappingInversion -MONDO:0007453 maturity-onset diabetes of the young type 2 skos:exactMatch NANDO:2201070 Maturity-onset diabetes of the young type 2 semapv:MappingInversion -MONDO:0010894 maturity-onset diabetes of the young type 3 skos:exactMatch NANDO:2201071 Maturity-onset diabetes of the young type 3 semapv:MappingInversion -MONDO:0011667 maturity-onset diabetes of the young type 4 skos:exactMatch NANDO:2201072 Maturity-onset diabetes of the young type 4 semapv:MappingInversion -MONDO:0007669 renal cysts and diabetes syndrome skos:exactMatch NANDO:2201073 Maturity-onset diabetes of the young type 5 semapv:MappingInversion -MONDO:0009861 phenylketonuria skos:exactMatch NANDO:2201075 Phenylalanine hydroxylase deficiency semapv:MappingInversion -MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency skos:exactMatch NANDO:2201076 BH4 deficiency semapv:MappingInversion -MONDO:0017389 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria skos:exactMatch NANDO:2201077 BH4-responsive hyperphenylalaninemia semapv:MappingInversion -MONDO:0017051 classic maple syrup urine disease skos:exactMatch NANDO:2201078 Classic form maple syrup urine disease semapv:MappingInversion -MONDO:0017052 intermediate maple syrup urine disease skos:exactMatch NANDO:2201079 Intermediate maple syrup urine disease semapv:MappingInversion -MONDO:0017053 intermittent maple syrup urine disease skos:exactMatch NANDO:2201080 Intermittent maple syrup urine disease semapv:MappingInversion -MONDO:0017054 thiamine-responsive maple syrup urine disease skos:exactMatch NANDO:2201081 Thiamine-responsive maple syrup urine disease semapv:MappingInversion -MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:exactMatch NANDO:2201084 Presymptomatic N-acetylglutamate synthetase deficiency semapv:MappingInversion -MONDO:0016600 acute neonatal citrullinemia type I skos:exactMatch NANDO:2201094 Neonatal-onset argininosuccinate synthetase deficiency semapv:MappingInversion -MONDO:0016601 adult-onset citrullinemia type I skos:exactMatch NANDO:2201095 Late-onset argininosuccinate synthetase deficiency semapv:MappingInversion -MONDO:0009613 methylmalonic aciduria, cblA type skos:exactMatch NANDO:2201105 Methylmalonic acidemia cblA type semapv:MappingInversion -MONDO:0009614 methylmalonic aciduria, cblB type skos:exactMatch NANDO:2201106 Methylmalonic acidemia cblB type semapv:MappingInversion -MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:exactMatch NANDO:2201107 Methylmalonic aciduria and homocystinuria, cblC type semapv:MappingInversion -MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:exactMatch NANDO:2201108 Methylmalonic acidemia CblD type semapv:MappingInversion -MONDO:0009354 methylcobalamin deficiency type cblE skos:exactMatch NANDO:2201109 Methylcobalamin deficiency cblE type semapv:MappingInversion -MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF skos:exactMatch NANDO:2201110 Methylmalonic acidemia and homocystinuria cblF type semapv:MappingInversion -MONDO:0009609 methylcobalamin deficiency type cblG skos:exactMatch NANDO:2201111 Methylcobalamin deficiency cblG type semapv:MappingInversion -MONDO:0021915 arakawa syndrome 2 skos:exactMatch NANDO:2201111 Methylcobalamin deficiency cblG type semapv:MappingInversion -MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:exactMatch NANDO:2201119 Presymptomatic 3-hydroxy-3-methylglutaric acidemia semapv:MappingInversion -MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form skos:exactMatch NANDO:2201132 Neonatal-onset carnitine palmitoyltransferase II deficiency semapv:MappingInversion -MONDO:0015515 carnitine palmitoyltransferase II deficiency skos:exactMatch NANDO:2201133 Infantile-onset carnitine palmitoyl transferase II deficiency semapv:MappingInversion -MONDO:0015515 carnitine palmitoyltransferase II deficiency skos:exactMatch NANDO:2201134 Late-onset carnitine palmitoyltransferase II deficiency semapv:MappingInversion -MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency skos:exactMatch NANDO:2201139 Presymptomatic very-long-chain acyl-CoA dehydrogenase deficiency semapv:MappingInversion -MONDO:0012172 mitochondrial trifunctional protein deficiency skos:exactMatch NANDO:2201147 Presymptomatic trifunctional protein deficiency semapv:MappingInversion -MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:exactMatch NANDO:2201151 Glycogen storage disease type 0a semapv:MappingInversion -MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency skos:exactMatch NANDO:2201152 Glycogen storage disease type 0b semapv:MappingInversion -MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:exactMatch NANDO:2201153 Glycogen storage disease type 1a semapv:MappingInversion -MONDO:0009288 glycogen storage disease Ib skos:exactMatch NANDO:2201154 Glycogen storage disease type 1b semapv:MappingInversion -MONDO:0017695 glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form skos:exactMatch NANDO:2201159 Glycogen storage disease type IV, hepatic form semapv:MappingInversion -MONDO:0017696 glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form skos:exactMatch NANDO:2201160 Glycogen storage disease type IV, non-progressive hepatic form semapv:MappingInversion -MONDO:0017697 glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form skos:exactMatch NANDO:2201161 Glycogen storage disease type IV, fatal neuromuscular form semapv:MappingInversion -MONDO:0017699 glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form skos:exactMatch NANDO:2201162 Glycogen storage disease type IV, childhood combined hepatic and myopathic form semapv:MappingInversion -MONDO:0009897 adult polyglucosan body disease skos:exactMatch NANDO:2201163 Glycogen storage disease type IV, adult form semapv:MappingInversion -MONDO:0010598 glycogen storage disease IXa1 skos:exactMatch NANDO:2201164 Glycogen storage disease type IXa semapv:MappingInversion -MONDO:0009868 glycogen storage disease IXb skos:exactMatch NANDO:2201165 Glycogen storage disease type IXb semapv:MappingInversion -MONDO:0013091 glycogen storage disease IXc skos:exactMatch NANDO:2201166 Glycogen storage disease type IXc semapv:MappingInversion -MONDO:0010362 glycogen storage disease IXd skos:exactMatch NANDO:2201167 Glycogen storage disease type IXd semapv:MappingInversion -MONDO:0001586 mucopolysaccharidosis type 1 skos:exactMatch NANDO:2201168 Hurler Disease semapv:MappingInversion -MONDO:0011758 Hurler syndrome skos:exactMatch NANDO:2201168 Hurler Disease semapv:MappingInversion -MONDO:0011760 Scheie syndrome skos:exactMatch NANDO:2201169 Scheie disease semapv:MappingInversion -MONDO:0011759 Hurler-Scheie syndrome skos:exactMatch NANDO:2201170 Hurler-Scheie disease semapv:MappingInversion -MONDO:0016316 mucopolysaccharidosis type 2, attenuated form skos:exactMatch NANDO:2201171 Mucopolysaccharidosis type II, attenuated form semapv:MappingInversion -MONDO:0016316 mucopolysaccharidosis type 2, attenuated form skos:exactMatch NANDO:2201172 Mucopolysaccharidosis type II, intermediate form semapv:MappingInversion -MONDO:0016315 mucopolysaccharidosis type 2, severe form skos:exactMatch NANDO:2201173 Mucopolysaccharidosis type II, severe form semapv:MappingInversion -MONDO:0009655 mucopolysaccharidosis type 3A skos:exactMatch NANDO:2201174 Mucopolysaccharidosis type III A semapv:MappingInversion -MONDO:0009656 mucopolysaccharidosis type 3B skos:exactMatch NANDO:2201175 Mucopolysaccharidosis type III B semapv:MappingInversion -MONDO:0009657 mucopolysaccharidosis type 3C skos:exactMatch NANDO:2201176 Mucopolysaccharidosis type III C semapv:MappingInversion -MONDO:0009658 mucopolysaccharidosis type 3D skos:exactMatch NANDO:2201177 Mucopolysaccharidosis type III D semapv:MappingInversion -MONDO:0009659 mucopolysaccharidosis type 4A skos:exactMatch NANDO:2201178 Mucopolysaccharidosis type IV A semapv:MappingInversion -MONDO:0009660 mucopolysaccharidosis type 4B skos:exactMatch NANDO:2201179 Mucopolysaccharidosis type IV B semapv:MappingInversion -MONDO:0017732 alpha-mannosidosis, infantile form skos:exactMatch NANDO:2201188 Alpha-mannosidosis, infantile form semapv:MappingInversion -MONDO:0022424 alpha-mannosidosis type 1 skos:exactMatch NANDO:2201188 Alpha-mannosidosis, infantile form semapv:MappingInversion -MONDO:0017733 alpha-mannosidosis, adult form skos:exactMatch NANDO:2201189 Alpha-mannosidosis, adult form semapv:MappingInversion -MONDO:0009562 beta-mannosidosis skos:exactMatch NANDO:2201190 Beta-mannosidosis semapv:MappingInversion -MONDO:0019346 sialidosis type 1 skos:exactMatch NANDO:2201191 Sialidosis type 1 semapv:MappingInversion -MONDO:0009738 sialidosis type 2 skos:exactMatch NANDO:2201192 Sialidosis type 2 semapv:MappingInversion -MONDO:0009738 sialidosis type 2 skos:exactMatch NANDO:2201193 Galactosialidosis, early infantile form semapv:MappingInversion -MONDO:0009260 GM1 gangliosidosis type 1 skos:exactMatch NANDO:2201196 GM1 gangliosidosis, infantile form semapv:MappingInversion -MONDO:0009261 GM1 gangliosidosis type 2 skos:exactMatch NANDO:2201197 GM1 gangliosidosis, juvenile form semapv:MappingInversion -MONDO:0009262 GM1 gangliosidosis type 3 skos:exactMatch NANDO:2201198 GM1 gangliosidosis, adult form semapv:MappingInversion -MONDO:0010100 Tay-Sachs disease skos:exactMatch NANDO:2201199 Tay-Sachs disease semapv:MappingInversion -MONDO:0010006 Sandhoff disease skos:exactMatch NANDO:2201200 Sandhoff disease semapv:MappingInversion -MONDO:0010099 Tay-Sachs disease AB variant skos:exactMatch NANDO:2201201 GM2 gangliosidosis AB variant semapv:MappingInversion -MONDO:0017729 metachromatic leukodystrophy, late infantile form skos:exactMatch NANDO:2201202 Metachromatic leukodystrophy, late infantile form semapv:MappingInversion -MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:exactMatch NANDO:2201203 Metachromatic leukodystrophy, juvenile form semapv:MappingInversion -MONDO:0017730 metachromatic leukodystrophy, adult form skos:exactMatch NANDO:2201204 Metachromatic leukodystrophy, adult form semapv:MappingInversion -MONDO:0009590 metachromatic leukodystrophy due to saposin B deficiency skos:exactMatch NANDO:2201205 Saposin B deficiency semapv:MappingInversion -MONDO:0009756 Niemann-Pick disease type A skos:exactMatch NANDO:2201206 Niemann-Pick disease type A semapv:MappingInversion -MONDO:0011871 Niemann-Pick disease type B skos:exactMatch NANDO:2201207 Niemann-Pick disease type B semapv:MappingInversion -MONDO:0016310 Niemann-Pick disease type C, adult neurologic onset skos:exactMatch NANDO:2201209 Adult-onset Niemann-Pick disease type C semapv:MappingInversion -MONDO:0009265 Gaucher disease type I skos:exactMatch NANDO:2201210 Gaucher disease type 1 semapv:MappingInversion -MONDO:0009266 Gaucher disease type II skos:exactMatch NANDO:2201211 Gaucher disease type 2 semapv:MappingInversion -MONDO:0009267 Gaucher disease type III skos:exactMatch NANDO:2201212 Gaucher disease type 3 semapv:MappingInversion -MONDO:0016089 infantile Krabbe disease skos:exactMatch NANDO:2201216 Infantile Krabbe disease semapv:MappingInversion -MONDO:0016091 adult Krabbe disease skos:exactMatch NANDO:2201219 Adult Krabbe disease semapv:MappingInversion -MONDO:0017694 glycogen storage disease due to acid maltase deficiency, infantile onset skos:exactMatch NANDO:2201229 Classic infantile Pompe disease semapv:MappingInversion -MONDO:0019148 Wolman disease skos:exactMatch NANDO:2201232 Wolman disease semapv:MappingInversion -MONDO:0019149 cholesteryl ester storage disease skos:exactMatch NANDO:2201233 Cholesterol ester storage disease semapv:MappingInversion -MONDO:0018467 nephropathic infantile cystinosis skos:exactMatch NANDO:2201234 Nephropathic cystinosis semapv:MappingInversion -MONDO:0100151 nephropathic cystinosis skos:exactMatch NANDO:2201234 Nephropathic cystinosis semapv:MappingInversion -MONDO:0009066 juvenile nephropathic cystinosis skos:exactMatch NANDO:2201235 Intermediate cystinosis semapv:MappingInversion -MONDO:0009064 ocular cystinosis skos:exactMatch NANDO:2201236 Non-nephropathic cystinosis semapv:MappingInversion -MONDO:0010027 free sialic acid storage disease, infantile form skos:exactMatch NANDO:2201237 Infantile free sialic acid storage disease semapv:MappingInversion -MONDO:0017737 intermediate severe Salla disease skos:exactMatch NANDO:2201238 Intermediate severe Salla disease semapv:MappingInversion -MONDO:0008956 obsolete congenital neuronal ceroid lipofuscinosis skos:exactMatch NANDO:2201240 Congenital neuronal ceroid lipofuscinosis semapv:MappingInversion -MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:exactMatch NANDO:2201241 Infantile neuronal ceroid lipofuscinosis semapv:MappingInversion -MONDO:0019261 infantile neuronal ceroid lipofuscinosis skos:exactMatch NANDO:2201241 Infantile neuronal ceroid lipofuscinosis semapv:MappingInversion -MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:exactMatch NANDO:2201242 Late infantile neuronal ceroid lipofuscinosis semapv:MappingInversion -MONDO:0015674 late infantile neuronal ceroid lipofuscinosis skos:exactMatch NANDO:2201242 Late infantile neuronal ceroid lipofuscinosis semapv:MappingInversion -MONDO:0019262 juvenile neuronal ceroid lipofuscinosis skos:exactMatch NANDO:2201243 Juvenile neuronal ceroid lipofuscinosis semapv:MappingInversion -MONDO:0019260 adult neuronal ceroid lipofuscinosis skos:exactMatch NANDO:2201244 Adult neuronal ceroid lipofuscinosis semapv:MappingInversion -MONDO:0010247 X-linked cerebral adrenoleukodystrophy skos:exactMatch NANDO:2201246 Childhood cerebral adrenoleukodystrophy semapv:MappingInversion -MONDO:0015339 adrenomyeloneuropathy skos:exactMatch NANDO:2201248 Adrenomyeloneuropathy semapv:MappingInversion -MONDO:0018328 homozygous familial hypercholesterolemia skos:exactMatch NANDO:2201255 Homozygous familial hypercholesterolemia semapv:MappingInversion -MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:exactMatch NANDO:2201256 Ehlers-Danlos syndrome, classical type semapv:MappingInversion -MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:exactMatch NANDO:2201257 Ehlers-Danlos syndrome, hypermobility type semapv:MappingInversion -MONDO:0017314 Ehlers-Danlos syndrome, vascular type skos:exactMatch NANDO:2201258 Ehlers-Danlos syndrome, vascular type semapv:MappingInversion -MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:exactMatch NANDO:2201259 Ehlers-Danlos syndrome, kyphoscoliotic type semapv:MappingInversion -MONDO:0034024 kyphoscoliotic Ehlers-Danlos syndrome skos:exactMatch NANDO:2201259 Ehlers-Danlos syndrome, kyphoscoliotic type semapv:MappingInversion -MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:exactMatch NANDO:2201260 Ehlers-Danlos syndrome, arthrochalasis type semapv:MappingInversion -MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type skos:exactMatch NANDO:2201261 Ehlers-Danlos syndrome, dermatosparaxis type semapv:MappingInversion -MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type skos:exactMatch NANDO:2201262 Dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome semapv:MappingInversion -MONDO:0008294 acute intermittent porphyria skos:exactMatch NANDO:2201263 Acute intermittent porphyria semapv:MappingInversion -MONDO:0007369 hereditary coproporphyria skos:exactMatch NANDO:2201264 Hereditary coproporphyria semapv:MappingInversion -MONDO:0008297 variegate porphyria skos:exactMatch NANDO:2201265 Variegate porphyria semapv:MappingInversion -MONDO:0001676 erythropoietic protoporphyria skos:exactMatch NANDO:2201266 Erythropoietic protoporphyria semapv:MappingInversion -MONDO:0008319 protoporphyria, erythropoietic, 1 skos:exactMatch NANDO:2201266 Erythropoietic protoporphyria semapv:MappingInversion -MONDO:0015104 porphyria cutanea tarda skos:exactMatch NANDO:2201267 Porphyria cutanea tarda semapv:MappingInversion -MONDO:0009902 cutaneous porphyria skos:exactMatch NANDO:2201268 Congenital erythropoietic porphyria semapv:MappingInversion -MONDO:0010420 X-linked erythropoietic protoporphyria skos:exactMatch NANDO:2201269 X-linked dominant protoporphyria semapv:MappingInversion -MONDO:0019799 hepatoerythropoietic porphyria skos:exactMatch NANDO:2201270 Hepatoerythropoietic porphyria semapv:MappingInversion -MONDO:0011399 alpha thalassemia skos:exactMatch NANDO:2201273 α-thalassemia semapv:MappingInversion -MONDO:0019402 beta thalassemia skos:exactMatch NANDO:2201274 β-thalassemia semapv:MappingInversion -MONDO:0001713 inherited aplastic anemia skos:exactMatch NANDO:2201275 Congenital aplastic anemia semapv:MappingInversion -MONDO:0012197 idiopathic aplastic anemia skos:exactMatch NANDO:2201276 Idiopathic aplastic anemia semapv:MappingInversion -MONDO:0015610 acquired aplastic anemia skos:exactMatch NANDO:2201277 Secondary aplastic anemia semapv:MappingInversion -MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:exactMatch NANDO:2201279 gp91phox-deficient chronic granulomatous disease semapv:MappingInversion -MONDO:0009308 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative skos:exactMatch NANDO:2201280 p22phox-deficient chronic granulomatous disease semapv:MappingInversion -MONDO:0009309 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 skos:exactMatch NANDO:2201281 p47phox-deficient chronic granulomatous disease semapv:MappingInversion -MONDO:0009310 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 skos:exactMatch NANDO:2201282 p67phox-deficient chronic granulomatous disease semapv:MappingInversion -MONDO:0013507 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 skos:exactMatch NANDO:2201283 p40phox-deficient chronic granulomatous disease semapv:MappingInversion -MONDO:0042727 sacrococcygeal teratoma skos:exactMatch NANDO:2201287 Altman type IV sacrococcygeal teratoma semapv:MappingInversion -MONDO:0010714 Pelizaeus-Merzbacher disease skos:exactMatch NANDO:2201288 Pelizaeus-Merzbacher disease semapv:MappingInversion -MONDO:0017226 Pelizaeus-Merzbacher-like disease skos:exactMatch NANDO:2201289 Pelizaeus-Merzbacher like disease semapv:MappingInversion -MONDO:0012905 hypomyelinating leukodystrophy 6 skos:exactMatch NANDO:2201290 Hypomyelination with atrophy of the basal ganglia and cerebellum semapv:MappingInversion -MONDO:0011147 chromosome 18q deletion syndrome skos:exactMatch NANDO:2201291 18q-syndrome semapv:MappingInversion -MONDO:0010354 Allan-Herndon-Dudley syndrome skos:exactMatch NANDO:2201292 Allan-Herndon-Dudley syndrome semapv:MappingInversion -MONDO:0012824 hypomyelinating leukodystrophy 4 skos:exactMatch NANDO:2201293 Mitochondrial Hsp60 chaperonopathy semapv:MappingInversion -MONDO:0011449 Salla disease skos:exactMatch NANDO:2201294 Salla disease semapv:MappingInversion -MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome skos:exactMatch NANDO:2201295 Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum semapv:MappingInversion -MONDO:0012514 hypomyelinating leukodystrophy 5 skos:exactMatch NANDO:2201296 Hypomyelination and congenital cataract semapv:MappingInversion -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:exactMatch NANDO:2201297 Ataxia, delayed dentition, and hypomyelination syndrome semapv:MappingInversion -MONDO:0012198 PCWH syndrome skos:exactMatch NANDO:2201298 Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease semapv:MappingInversion -MONDO:0012996 AGAT deficiency skos:exactMatch NANDO:2201299 AGAT deficiency semapv:MappingInversion -MONDO:0012999 guanidinoacetate methyltransferase deficiency skos:exactMatch NANDO:2201300 GAMT deficiency semapv:MappingInversion -MONDO:0010305 creatine transporter deficiency skos:exactMatch NANDO:2201301 SLC6A8 deficiency semapv:MappingInversion -MONDO:0018112 isolated scaphocephaly skos:exactMatch NANDO:2201302 Non-syndromic sagittal craniosynostosis semapv:MappingInversion -MONDO:0018065 isolated trigonocephaly skos:exactMatch NANDO:2201305 Non-syndromic metopic craniosynostosis semapv:MappingInversion -MONDO:0021081 anti-NMDA receptor encephalitis skos:exactMatch NANDO:2201317 Anti-NMDA receptor encephalitis semapv:MappingInversion -MONDO:0005314 relapsing-remitting multiple sclerosis skos:exactMatch NANDO:2201319 Relapsing-remitting multiple sclerosis semapv:MappingInversion -MONDO:0000451 primary progressive multiple sclerosis skos:exactMatch NANDO:2201320 Primary progressive multiple sclerosis semapv:MappingInversion -MONDO:0000450 secondary progressive multiple sclerosis skos:exactMatch NANDO:2201321 Secondary progressive multiple sclerosis semapv:MappingInversion -MONDO:0019100 neuromyelitis optica skos:exactMatch NANDO:2201322 Neuromyelitis optica semapv:MappingInversion -MONDO:0017610 epidermolysis bullosa simplex skos:exactMatch NANDO:2201341 Epidermolysis bullosa simplex semapv:MappingInversion -MONDO:0017612 junctional epidermolysis bullosa skos:exactMatch NANDO:2201342 Junctional epidermolysis bullosa semapv:MappingInversion -MONDO:0017608 obsolete dystrophic epidermolysis bullosa skos:exactMatch NANDO:2201343 Dystrophic epidermolysis bullosa semapv:MappingInversion -MONDO:0008702 achondrogenesis type II skos:exactMatch NANDO:2201345 Achondrogenesis type 2 semapv:MappingInversion -MONDO:0008703 acromesomelic dysplasia 2A skos:exactMatch NANDO:2201345 Achondrogenesis type 2 semapv:MappingInversion -MONDO:0008703 acromesomelic dysplasia 2A skos:exactMatch NANDO:2201346 Hypochondrogenesis semapv:MappingInversion -MONDO:0019669 hypochondrogenesis skos:exactMatch NANDO:2201346 Hypochondrogenesis semapv:MappingInversion -MONDO:0007895 platyspondylic dysplasia, Torrance type skos:exactMatch NANDO:2201347 Platyspondylic dysplasia, Torrance type semapv:MappingInversion -MONDO:0008471 spondyloepiphyseal dysplasia congenita skos:exactMatch NANDO:2201348 Spondyloepiphyseal dysplasia congenita semapv:MappingInversion -MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type skos:exactMatch NANDO:2201349 Spondyloepimetaphyseal dysplasia, Strudwick type semapv:MappingInversion -MONDO:0007987 Kniest dysplasia skos:exactMatch NANDO:2201350 Kniest dysplasia semapv:MappingInversion -MONDO:0010078 spondyloperipheral dysplasia skos:exactMatch NANDO:2201351 Spondyloperipheral dysplasia semapv:MappingInversion -MONDO:0011496 mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis skos:exactMatch NANDO:2201352 Mild spondyloepiphyseal dysplasia with premature-onset arthrosis semapv:MappingInversion -MONDO:0012206 Czech dysplasia, metatarsal type skos:exactMatch NANDO:2201353 Spondyloepiphyseal dysplasia with metatarsal shortening semapv:MappingInversion -MONDO:0007160 Stickler syndrome type 1 skos:exactMatch NANDO:2201354 Stickler syndrome type 1 semapv:MappingInversion -MONDO:0010555 X-linked chondrodysplasia punctata 1 skos:exactMatch NANDO:2201356 X-linked recessive brachytelephalangic chondrodysplasia punctata semapv:MappingInversion -MONDO:0020603 X-linked chondrodysplasia punctata 2 skos:exactMatch NANDO:2201357 X-linked dominant chondrodysplasia Punctata, Conradi-Hunermann Type semapv:MappingInversion -MONDO:0010621 CHILD syndrome skos:exactMatch NANDO:2201358 CHILD syndrome semapv:MappingInversion -MONDO:0007322 chondrodysplasia punctata, tibial-metacarpal type skos:exactMatch NANDO:2201359 Chondrodysplasia punctata, tibial-metacarpal type semapv:MappingInversion -MONDO:0010555 X-linked chondrodysplasia punctata 1 skos:exactMatch NANDO:2201360 Brachytelephalangic chondrodysplasia punctata semapv:MappingInversion -MONDO:0008974 Greenberg dysplasia skos:exactMatch NANDO:2201361 Greenberg dysplasia semapv:MappingInversion -MONDO:0019408 Astley-Kendall dysplasia skos:exactMatch NANDO:2201362 Astley-Kendall dysplasia semapv:MappingInversion -MONDO:0007970 melorheostosis skos:exactMatch NANDO:2201364 Melorheostosis semapv:MappingInversion -MONDO:0009138 dysosteosclerosis skos:exactMatch NANDO:2201365 Dysosteosclerosis semapv:MappingInversion -MONDO:0015465 craniometaphyseal dysplasia skos:exactMatch NANDO:2201366 Craniometaphyseal dysplasia semapv:MappingInversion -MONDO:0009943 Pyle disease skos:exactMatch NANDO:2201367 Metaphyseal dysplasias semapv:MappingInversion -MONDO:0009031 craniodiaphyseal dysplasia skos:exactMatch NANDO:2201368 Craniodiaphyseal dysplasia semapv:MappingInversion -MONDO:0017838 sclerosteosis skos:exactMatch NANDO:2201369 Sclerosteosis semapv:MappingInversion -MONDO:0017610 epidermolysis bullosa simplex skos:exactMatch NANDO:2201375 Autosomal dominant epidermolysis bullosa simplex semapv:MappingInversion -MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy skos:exactMatch NANDO:2201376 Epidermolysis bullosa simplex with muscular dystrophy semapv:MappingInversion -MONDO:0009182 junctional epidermolysis bullosa Herlitz type skos:exactMatch NANDO:2201378 Herlitz junctional epidermolysis bullosa semapv:MappingInversion -MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:exactMatch NANDO:2201379 Non-Herlitz junctional epidermolysis bullosa semapv:MappingInversion -MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia skos:exactMatch NANDO:2201380 Junctional epidermolysis bullosa with pyloric atresia semapv:MappingInversion -MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:exactMatch NANDO:2201383 Recessive dystrophic epidermolysis bullosa, generalized severe semapv:MappingInversion -MONDO:0009627 Galloway-Mowat syndrome skos:exactMatch NANDO:2201385 Galloway-Mowat syndrome semapv:MappingInversion +MONDO:0000050 isolated congenital growth hormone deficiency skos:closeMatch NANDO:2200317 Congenital growth hormone deficiency semapv:MappingInversion +MONDO:0000087 polymicrogyria skos:closeMatch NANDO:1201071 Polymicrogyria semapv:MappingInversion +MONDO:0000088 precocious puberty skos:closeMatch NANDO:2100135 Precocious puberty semapv:MappingInversion +MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome skos:closeMatch NANDO:1200334 ICF syndrome semapv:MappingInversion +MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome skos:closeMatch NANDO:2200708 ICF syndrome semapv:MappingInversion +MONDO:0000147 polyposis skos:closeMatch NANDO:2100257 Polyposis semapv:MappingInversion +MONDO:0000153 transposition of the great arteries skos:closeMatch NANDO:2200258 Complete transposition of the great arteries semapv:MappingInversion +MONDO:0000188 GLUT1 deficiency syndrome skos:closeMatch NANDO:1200799 Glucose transporter 1 deficiency semapv:MappingInversion +MONDO:0000190 ventricular fibrillation skos:closeMatch NANDO:2100052 Ventricular fibrillation semapv:MappingInversion +MONDO:0000190 ventricular fibrillation skos:closeMatch NANDO:2200227 Ventricular fibrillation semapv:MappingInversion +MONDO:0000351 disorder of methionine catabolism skos:closeMatch NANDO:2200475 Hypermethioninemia semapv:MappingInversion +MONDO:0000355 Ullrich congenital muscular dystrophy skos:closeMatch NANDO:1200215 Ullrich disease semapv:MappingInversion +MONDO:0000355 Ullrich congenital muscular dystrophy skos:closeMatch NANDO:2200862 Ullrich congenital muscular dystrophy semapv:MappingInversion +MONDO:0000390 vitelliform macular dystrophy skos:closeMatch NANDO:1200932 Vitelliform macular dystrophy semapv:MappingInversion +MONDO:0000437 cerebellar ataxia skos:closeMatch NANDO:1200037 Spinocerebellar degeneration semapv:MappingInversion +MONDO:0000437 cerebellar ataxia skos:closeMatch NANDO:2100238 Spinocerebellar degeneration semapv:MappingInversion +MONDO:0000437 cerebellar ataxia skos:closeMatch NANDO:2200882 Spinocerebellar degeneration semapv:MappingInversion +MONDO:0000450 secondary progressive multiple sclerosis skos:closeMatch NANDO:1200026 Secondary progressive multiple sclerosis semapv:MappingInversion +MONDO:0000450 secondary progressive multiple sclerosis skos:closeMatch NANDO:2201321 Secondary progressive multiple sclerosis semapv:MappingInversion +MONDO:0000451 primary progressive multiple sclerosis skos:closeMatch NANDO:1200025 Primary progressive multiple sclerosis semapv:MappingInversion +MONDO:0000451 primary progressive multiple sclerosis skos:closeMatch NANDO:2201320 Primary progressive multiple sclerosis semapv:MappingInversion +MONDO:0000455 cone dystrophy skos:closeMatch NANDO:1200936 Cone dystrophy semapv:MappingInversion +MONDO:0000456 cerebral creatine deficiency syndrome skos:closeMatch NANDO:1201032 Cerebral creatine deficiency syndromes semapv:MappingInversion +MONDO:0000456 cerebral creatine deficiency syndrome skos:closeMatch NANDO:2100226 Cerebral creatine deficiency syndromes semapv:MappingInversion +MONDO:0000456 cerebral creatine deficiency syndrome skos:closeMatch NANDO:2200842 Cerebral creatine deficiency syndrome semapv:MappingInversion +MONDO:0000468 third-degree atrioventricular block skos:closeMatch NANDO:2200214 Complete atrio-ventricular block semapv:MappingInversion +MONDO:0000521 salivary gland carcinoma skos:closeMatch NANDO:2200076 Salivary grand carcinoma semapv:MappingInversion +MONDO:0000608 familial juvenile hyperuricemic nephropathy skos:closeMatch NANDO:2100014 Familial juvenile hyperuricemic nephropathy semapv:MappingInversion +MONDO:0000608 familial juvenile hyperuricemic nephropathy skos:closeMatch NANDO:2200139 Familial juvenile hyperuricemic nephropathy semapv:MappingInversion +MONDO:0000640 central nervous system primitive neuroectodermal neoplasm skos:closeMatch NANDO:2200099 Primitive neuroectodermal tumour of the central nervous system semapv:MappingInversion +MONDO:0000640 central nervous system primitive neuroectodermal neoplasm skos:closeMatch NANDO:2200100 Primitive neuroectodermal tumour of the central nervous system semapv:MappingInversion +MONDO:0000721 xanthinuria skos:closeMatch NANDO:2200588 Xanthinuria semapv:MappingInversion +MONDO:0000811 anomalous left coronary artery from the pulmonary artery skos:closeMatch NANDO:2200242 Abnormal origin of left coronary artery from pulmonary artery semapv:MappingInversion +MONDO:0000839 obsolete congenital abnormality skos:closeMatch NANDO:1200957 Congenital anomalies syndrome semapv:MappingInversion +MONDO:0000872 B-cell childhood acute lymphoblastic leukemia skos:closeMatch NANDO:2200002 Mature B-cell lymphoblastic leukemia semapv:MappingInversion +MONDO:0000875 adult acute monocytic leukemia skos:closeMatch NANDO:2200008 Acute monocytic leukemia semapv:MappingInversion +MONDO:0000875 adult acute monocytic leukemia skos:closeMatch NANDO:2200009 Acute monocytic leukemia semapv:MappingInversion +MONDO:0000903 myoclonus-dystonia syndrome skos:closeMatch NANDO:1200522 Dystonia 11 semapv:MappingInversion +MONDO:0000940 trypanosomiasis skos:closeMatch NANDO:2200774 Trypanosomiasis semapv:MappingInversion +MONDO:0000984 thalassemia skos:closeMatch NANDO:2200626 Thalassemia semapv:MappingInversion +MONDO:0000995 familial periodic paralysis skos:closeMatch NANDO:1200502 Hereditary periodic paralysis semapv:MappingInversion +MONDO:0001083 Fanconi renotubular syndrome skos:closeMatch NANDO:2100027 Fanconi syndrome semapv:MappingInversion +MONDO:0001083 Fanconi renotubular syndrome skos:closeMatch NANDO:2200187 Fanconi syndrome semapv:MappingInversion +MONDO:0001085 interstitial nephritis skos:closeMatch NANDO:2200136 Tubulointerstitial nephritis semapv:MappingInversion +MONDO:0001105 renal hypertension skos:closeMatch NANDO:2100016 Renovascular hypertension semapv:MappingInversion +MONDO:0001105 renal hypertension skos:closeMatch NANDO:2200141 Renovascular hypertension semapv:MappingInversion +MONDO:0001110 chronic pyelonephritis skos:closeMatch NANDO:2100012 Chronic pyelonephritis semapv:MappingInversion +MONDO:0001110 chronic pyelonephritis skos:closeMatch NANDO:2200137 Chronic pyelonephritis semapv:MappingInversion +MONDO:0001115 familial polycythemia skos:closeMatch NANDO:2100187 Familial polycythemia semapv:MappingInversion +MONDO:0001115 familial polycythemia skos:closeMatch NANDO:2200644 Familial polycythemia semapv:MappingInversion +MONDO:0001220 hypoparathyroidism skos:closeMatch NANDO:1200775 Hypoparathyroidism semapv:MappingInversion +MONDO:0001220 hypoparathyroidism skos:closeMatch NANDO:2100124 Hypoparathyroidism semapv:MappingInversion +MONDO:0001220 hypoparathyroidism skos:closeMatch NANDO:2200345 Hypoparathyroidism semapv:MappingInversion +MONDO:0001243 disseminated intravascular coagulation skos:closeMatch NANDO:2200639 Disseminated intravascular coagulation semapv:MappingInversion +MONDO:0001261 Mobitz type II atrioventricular block skos:closeMatch NANDO:2100044 Mobitz type II second degree atrioventricular block semapv:MappingInversion +MONDO:0001261 Mobitz type II atrioventricular block skos:closeMatch NANDO:2200213 Mobitz type II second degree atrioventricular block semapv:MappingInversion +MONDO:0001298 congenital mitral valve insufficiency skos:closeMatch NANDO:2200303 Mitral regurgitation semapv:MappingInversion +MONDO:0001324 obsolete hyperandrogenism skos:closeMatch NANDO:2200380 Hyperandrogenism semapv:MappingInversion +MONDO:0001328 thyroid hormone resistance syndrome skos:closeMatch NANDO:1200395 Resistance to thyroid hormone semapv:MappingInversion +MONDO:0001328 thyroid hormone resistance syndrome skos:closeMatch NANDO:2100121 Resistance to thyroid hormone semapv:MappingInversion +MONDO:0001328 thyroid hormone resistance syndrome skos:closeMatch NANDO:2200341 Resistance to thyroid hormone semapv:MappingInversion +MONDO:0001336 familial hyperlipidemia skos:closeMatch NANDO:2200603 Familial combined hyperlipidemia semapv:MappingInversion +MONDO:0001341 selective IgA deficiency disease skos:closeMatch NANDO:1200347 Selective IgA deficiency semapv:MappingInversion +MONDO:0001341 selective IgA deficiency disease skos:closeMatch NANDO:2200720 Selective IgA deficiency semapv:MappingInversion +MONDO:0001347 facioscapulohumeral muscular dystrophy skos:closeMatch NANDO:1200491 Facioscapulohumeral muscular dystrophy semapv:MappingInversion +MONDO:0001347 facioscapulohumeral muscular dystrophy skos:closeMatch NANDO:2200859 Facioscapulohumeral muscular dystrophy semapv:MappingInversion +MONDO:0001414 osteopoikilosis skos:closeMatch NANDO:2201024 Osteopoikilosis semapv:MappingInversion +MONDO:0001422 primary aldosteronism skos:closeMatch NANDO:2200361 Aldosteronism semapv:MappingInversion +MONDO:0001437 pulmonary alveolar proteinosis skos:closeMatch NANDO:1200746 Pulmonary alveolar proteinosis semapv:MappingInversion +MONDO:0001493 chronic pulmonary heart disease skos:closeMatch NANDO:2200299 Chronic cor pulmonale semapv:MappingInversion +MONDO:0001516 spinal muscular atrophy skos:closeMatch NANDO:1200003 Spinal muscular atrophy semapv:MappingInversion +MONDO:0001516 spinal muscular atrophy skos:closeMatch NANDO:2100231 Spinal muscular atrophy semapv:MappingInversion +MONDO:0001516 spinal muscular atrophy skos:closeMatch NANDO:2200853 Spinal muscular atrophy semapv:MappingInversion +MONDO:0001558 Potter sequence skos:closeMatch NANDO:2200157 Potter syndrome semapv:MappingInversion +MONDO:0001586 mucopolysaccharidosis type 1 skos:closeMatch NANDO:2200547 Mucopolysaccharidosis type I semapv:MappingInversion +MONDO:0001586 mucopolysaccharidosis type 1 skos:closeMatch NANDO:2201168 Hurler Disease semapv:MappingInversion +MONDO:0001645 crescentic glomerulonephritis skos:closeMatch NANDO:1200714 Rapidly progressive glomerulonephritis semapv:MappingInversion +MONDO:0001645 crescentic glomerulonephritis skos:closeMatch NANDO:1200723 Crescentic glomerulonephritis semapv:MappingInversion +MONDO:0001676 erythropoietic protoporphyria skos:closeMatch NANDO:1200815 Erythropoietic protoporphyria semapv:MappingInversion +MONDO:0001676 erythropoietic protoporphyria skos:closeMatch NANDO:2201266 Erythropoietic protoporphyria semapv:MappingInversion +MONDO:0001700 megaloblastic anemia skos:closeMatch NANDO:2100176 Megaloblastic anemia semapv:MappingInversion +MONDO:0001700 megaloblastic anemia skos:closeMatch NANDO:2200612 Megaloblastic anemia semapv:MappingInversion +MONDO:0001705 pure red-cell aplasia skos:closeMatch NANDO:2100177 Pure red cell aplasia semapv:MappingInversion +MONDO:0001713 inherited aplastic anemia skos:closeMatch NANDO:1200302 Congenital aplastic anemia semapv:MappingInversion +MONDO:0001713 inherited aplastic anemia skos:closeMatch NANDO:2201275 Congenital aplastic anemia semapv:MappingInversion +MONDO:0001734 tuberous sclerosis skos:closeMatch NANDO:1200607 Tuberous sclerosis complex semapv:MappingInversion +MONDO:0001734 tuberous sclerosis skos:closeMatch NANDO:2200826 Tuberous sclerosis complex semapv:MappingInversion +MONDO:0001741 hyperparathyroidism skos:closeMatch NANDO:2100123 Hyperparathyroidism semapv:MappingInversion +MONDO:0001741 hyperparathyroidism skos:closeMatch NANDO:2200343 Hyperparathyroidism semapv:MappingInversion +MONDO:0001790 spinal cord lipoma skos:closeMatch NANDO:2200815 Spinal lipoma semapv:MappingInversion +MONDO:0001823 sick sinus syndrome skos:closeMatch NANDO:2100043 Sick sinus syndrome semapv:MappingInversion +MONDO:0001823 sick sinus syndrome skos:closeMatch NANDO:2200212 Sick sinus syndrome semapv:MappingInversion +MONDO:0001909 renal tubular acidosis skos:closeMatch NANDO:2100019 Renal tubular acidosis semapv:MappingInversion +MONDO:0001909 renal tubular acidosis skos:closeMatch NANDO:2200144 Renal tubular acidosis semapv:MappingInversion +MONDO:0001927 pulmonary valve insufficiency skos:closeMatch NANDO:2200305 Pulmonary valve regurgitation semapv:MappingInversion +MONDO:0001946 obsolete hyperestrogenism skos:closeMatch NANDO:2200379 Hyperestrogenism semapv:MappingInversion +MONDO:0001969 mixed gonadal dysgenesis skos:closeMatch NANDO:2200388 Mixed gonadal dysgenesis semapv:MappingInversion +MONDO:0001982 Niemann-Pick disease skos:closeMatch NANDO:2200561 Niemann-Pick disease semapv:MappingInversion +MONDO:0002012 methylmalonic acidemia skos:closeMatch NANDO:1200793 Methylmalonic acidemia semapv:MappingInversion +MONDO:0002012 methylmalonic acidemia skos:closeMatch NANDO:2200491 Methylmalonic acidemia semapv:MappingInversion +MONDO:0002013 lymphangioma skos:closeMatch NANDO:2201032 Lymphangioma semapv:MappingInversion +MONDO:0002070 ventricular septal defect skos:closeMatch NANDO:2100087 Ventricular septal defect semapv:MappingInversion +MONDO:0002070 ventricular septal defect skos:closeMatch NANDO:2200270 Ventricular septal defect semapv:MappingInversion +MONDO:0002108 thyroid cancer skos:closeMatch NANDO:2200074 Thyroid cancer semapv:MappingInversion +MONDO:0002145 disorder of sexual differentiation skos:closeMatch NANDO:2100140 Disorders of sex development semapv:MappingInversion +MONDO:0002241 factor XIII deficiency skos:closeMatch NANDO:2200681 Factor XIII deficiency semapv:MappingInversion +MONDO:0002244 factor VII deficiency skos:closeMatch NANDO:2200675 Factor VII deficiency semapv:MappingInversion +MONDO:0002247 factor X deficiency skos:closeMatch NANDO:2200678 Factor X deficiency semapv:MappingInversion +MONDO:0002304 protein S deficiency skos:closeMatch NANDO:1201081 Protein S deficiency semapv:MappingInversion +MONDO:0002304 protein S deficiency skos:closeMatch NANDO:2100198 Protein S deficiency semapv:MappingInversion +MONDO:0002304 protein S deficiency skos:closeMatch NANDO:2200690 Protein S deficiency semapv:MappingInversion +MONDO:0002327 intracranial cavernous angioma skos:closeMatch NANDO:2200852 Cavernous angioma of the brain and spinal cord semapv:MappingInversion +MONDO:0002335 chronic inflammatory demyelinating polyneuritis skos:closeMatch NANDO:1200030 Chronic inflammatory demyelinating polyneuropathy semapv:MappingInversion +MONDO:0002335 chronic inflammatory demyelinating polyneuritis skos:closeMatch NANDO:2100251 Chronic inflammatory demyelinating polyneuropathy semapv:MappingInversion +MONDO:0002335 chronic inflammatory demyelinating polyneuritis skos:closeMatch NANDO:2200905 Chronic inflammatory demyelinating polyneuropathy semapv:MappingInversion +MONDO:0002412 disorder of glycogen metabolism skos:closeMatch NANDO:1200838 Hepatic glycogen storage disease semapv:MappingInversion +MONDO:0002413 glycogen storage disease I skos:closeMatch NANDO:1200840 Hepatic glycogen storage disease type Ia semapv:MappingInversion +MONDO:0002413 glycogen storage disease I skos:closeMatch NANDO:1201018 Hepatic glycogen storage disease type I semapv:MappingInversion +MONDO:0002413 glycogen storage disease I skos:closeMatch NANDO:2200538 Glycogen storage disease type I semapv:MappingInversion +MONDO:0002429 idiopathic interstitial pneumonia skos:closeMatch NANDO:1200416 Idiopathic interstitial pneumonia semapv:MappingInversion +MONDO:0002429 idiopathic interstitial pneumonia skos:closeMatch NANDO:2200199 Idiopathic interstitial pneumonia semapv:MappingInversion +MONDO:0002442 long QT syndrome skos:closeMatch NANDO:2100053 Long QT syndrome semapv:MappingInversion +MONDO:0002442 long QT syndrome skos:closeMatch NANDO:2200228 Long qt syndrome semapv:MappingInversion +MONDO:0002461 membranoproliferative glomerulonephritis skos:closeMatch NANDO:1200737 Lobular membranoproliferative glomerulonephritis type I semapv:MappingInversion +MONDO:0002461 membranoproliferative glomerulonephritis skos:closeMatch NANDO:2200123 Membranoproliferative glomerulonephritis semapv:MappingInversion +MONDO:0002470 photosensitive trichothiodystrophy skos:closeMatch NANDO:1200626 Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature semapv:MappingInversion +MONDO:0002473 cystic kidney disease skos:closeMatch NANDO:2200172 Simple renal cyst semapv:MappingInversion +MONDO:0002474 primary hyperoxaluria skos:closeMatch NANDO:2200503 Primary hyperoxaluria semapv:MappingInversion +MONDO:0002540 childhood oligodendroglioma skos:closeMatch NANDO:2200089 Oligodendroglioma semapv:MappingInversion +MONDO:0002543 adult oligodendroglioma skos:closeMatch NANDO:2200089 Oligodendroglioma semapv:MappingInversion +MONDO:0002546 schwannoma skos:closeMatch NANDO:2200103 Neurinoma semapv:MappingInversion +MONDO:0002561 lysosomal storage disease skos:closeMatch NANDO:1200055 Lysosomal storage disease semapv:MappingInversion +MONDO:0002561 lysosomal storage disease skos:closeMatch NANDO:2100165 Lysosomal storage disease semapv:MappingInversion +MONDO:0002568 tracheal stenosis skos:closeMatch NANDO:2200194 Tracheal stenosis semapv:MappingInversion +MONDO:0002623 pediatric osteosarcoma skos:closeMatch NANDO:2200048 Osteosarcoma semapv:MappingInversion +MONDO:0002637 histiocytosis skos:closeMatch NANDO:2100005 Histiocytosis semapv:MappingInversion +MONDO:0002676 adult fibrosarcoma skos:closeMatch NANDO:2200060 Fibrosarcoma semapv:MappingInversion +MONDO:0002678 pediatric fibrosarcoma skos:closeMatch NANDO:2200060 Fibrosarcoma semapv:MappingInversion +MONDO:0002714 central nervous system cancer skos:closeMatch NANDO:2100007 Central nervous system tumors semapv:MappingInversion +MONDO:0002718 central nervous system teratoma skos:closeMatch NANDO:2200104 Teratoma of the central nervous system semapv:MappingInversion +MONDO:0002728 rhabdoid tumor skos:closeMatch NANDO:2200057 Malignant rhabdoid tumour semapv:MappingInversion +MONDO:0002794 adult medulloblastoma skos:closeMatch NANDO:2200090 Medulloblastoma semapv:MappingInversion +MONDO:0002797 childhood medulloblastoma skos:closeMatch NANDO:2200090 Medulloblastoma semapv:MappingInversion +MONDO:0002807 bronchial neoplasm skos:closeMatch NANDO:2200081 Bronchial tumour semapv:MappingInversion +MONDO:0002869 heart valve disorder skos:closeMatch NANDO:2100105 Valvular heart disease semapv:MappingInversion +MONDO:0002870 tricuspid valve insufficiency skos:closeMatch NANDO:2200301 Tricuspid valve regurgitation semapv:MappingInversion +MONDO:0002921 congenital structural myopathy skos:closeMatch NANDO:1200482 Centronuclear myopathy semapv:MappingInversion +MONDO:0002921 congenital structural myopathy skos:closeMatch NANDO:2200867 Myotubular myopathy semapv:MappingInversion +MONDO:0002926 clear cell sarcoma skos:closeMatch NANDO:2200062 Clear cell sarcoma semapv:MappingInversion +MONDO:0002933 osteosclerosis skos:closeMatch NANDO:2201022 Osteosclerotic diseases semapv:MappingInversion +MONDO:0003002 dysgerminoma skos:closeMatch NANDO:2200066 Dysgerminoma semapv:MappingInversion +MONDO:0003057 pediatric meningioma skos:closeMatch NANDO:2200094 Meningioma semapv:MappingInversion +MONDO:0003075 bilateral retinoblastoma skos:closeMatch NANDO:2201038 Bilateral retinoblastoma semapv:MappingInversion +MONDO:0003136 anti-basement membrane glomerulonephritis skos:closeMatch NANDO:1200717 Anti-GBM rapidly progressive glomerulonephritis semapv:MappingInversion +MONDO:0003139 mesangial proliferative glomerulonephritis skos:closeMatch NANDO:1201029 Mesangial proliferative glomerulonephritis semapv:MappingInversion +MONDO:0003139 mesangial proliferative glomerulonephritis skos:closeMatch NANDO:2200122 Mesangial proliferative glomerulonephritis semapv:MappingInversion +MONDO:0003157 disappearing bone disease skos:closeMatch NANDO:1200878 Lymphangiomatosis / Gorham-Stout disease semapv:MappingInversion +MONDO:0003157 disappearing bone disease skos:closeMatch NANDO:1200880 obsolete Gorham disease semapv:MappingInversion +MONDO:0003330 urinary tract obstruction skos:closeMatch NANDO:2200178 Obstructive uropathy semapv:MappingInversion +MONDO:0003517 mature teratoma skos:closeMatch NANDO:2200105 Mature teratoma semapv:MappingInversion +MONDO:0003523 gastrin-producing neuroendocrine tumor skos:closeMatch NANDO:2200395 Gastrinoma semapv:MappingInversion +MONDO:0003585 adult liposarcoma skos:closeMatch NANDO:2200065 Liposarcoma semapv:MappingInversion +MONDO:0003587 pediatric liposarcoma skos:closeMatch NANDO:2200065 Liposarcoma semapv:MappingInversion +MONDO:0003659 pediatric lymphoma skos:closeMatch NANDO:2100004 Lymphoma semapv:MappingInversion +MONDO:0003660 adult lymphoma skos:closeMatch NANDO:2100004 Lymphoma semapv:MappingInversion +MONDO:0003664 hemolytic anemia skos:closeMatch NANDO:2200636 Hemolytic anemia semapv:MappingInversion +MONDO:0003689 familial hemolytic anemia skos:closeMatch NANDO:2100183 Hereditary hemolytic anemia semapv:MappingInversion +MONDO:0003759 childhood ovarian yolk sac tumor skos:closeMatch NANDO:2200069 Yolk sac tumour semapv:MappingInversion +MONDO:0003778 inborn error of immunity skos:closeMatch NANDO:1200320 Primary immunodeficiency syndrome semapv:MappingInversion +MONDO:0003778 inborn error of immunity skos:closeMatch NANDO:2100204 Immunodeficiency semapv:MappingInversion +MONDO:0003832 complement deficiency skos:closeMatch NANDO:1200364 Inherited deficiency of complement system semapv:MappingInversion +MONDO:0003832 complement deficiency skos:closeMatch NANDO:2200776 Inherited deficiency of complement system semapv:MappingInversion +MONDO:0003900 connective tissue disorder skos:closeMatch NANDO:2100172 Connective tissue disorder semapv:MappingInversion +MONDO:0003924 adrenal cortex adenoma skos:closeMatch NANDO:2200352 Adrenal adenoma semapv:MappingInversion +MONDO:0003947 hyper-IgM syndrome skos:closeMatch NANDO:1200345 Hyper-IgM syndrome semapv:MappingInversion +MONDO:0003947 hyper-IgM syndrome skos:closeMatch NANDO:2200718 Hyper-IgM syndrome semapv:MappingInversion +MONDO:0003964 myositis ossificans skos:closeMatch NANDO:1200871 Fibrodysplasia ossificans progressiva semapv:MappingInversion +MONDO:0003964 myositis ossificans skos:closeMatch NANDO:2201020 Fibrodysplasia ossificans progressiva semapv:MappingInversion +MONDO:0004000 childhood pilocytic astrocytoma skos:closeMatch NANDO:2200084 Pilocytic astrocytoma semapv:MappingInversion +MONDO:0004069 inborn mitochondrial metabolism disorder skos:closeMatch NANDO:1200173 Mitochondrial diseases semapv:MappingInversion +MONDO:0004069 inborn mitochondrial metabolism disorder skos:closeMatch NANDO:2100163 Mitochondrial diseases semapv:MappingInversion +MONDO:0004218 childhood germ cell brain tumor skos:closeMatch NANDO:2200108 Intracranial germ cell tumour semapv:MappingInversion +MONDO:0004335 digestive system disorder skos:closeMatch NANDO:1100013 Gastrointestinal disease semapv:MappingInversion +MONDO:0004355 childhood leukemia skos:closeMatch NANDO:2100002 Leukemia semapv:MappingInversion +MONDO:0004425 hyperthyroidism skos:closeMatch NANDO:2100119 Hyperthyroidism semapv:MappingInversion +MONDO:0004425 hyperthyroidism skos:closeMatch NANDO:2200329 Hyperthyroidism semapv:MappingInversion +MONDO:0004471 bacterial arthritis skos:closeMatch NANDO:2200437 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome semapv:MappingInversion +MONDO:0004591 impetigo herpetiformis skos:closeMatch NANDO:1200243 Impetigo herpetiformis semapv:MappingInversion +MONDO:0004691 autosomal dominant polycystic kidney disease skos:closeMatch NANDO:1200368 Autosomal dominant polycystic kidney disease semapv:MappingInversion +MONDO:0004691 autosomal dominant polycystic kidney disease skos:closeMatch NANDO:2200153 Autosomal dominant polycystic kidney disease semapv:MappingInversion +MONDO:0004737 homocystinuria skos:closeMatch NANDO:1201038 Homocystinuria semapv:MappingInversion +MONDO:0004737 homocystinuria skos:closeMatch NANDO:2200474 Homocystinuria semapv:MappingInversion +MONDO:0004739 urea cycle disorder skos:closeMatch NANDO:1200802 Urea cycle disorder semapv:MappingInversion +MONDO:0004782 diabetes insipidus skos:closeMatch NANDO:2100117 Diabetes insipidus semapv:MappingInversion +MONDO:0004822 bronchiectasis skos:closeMatch NANDO:2100036 Bronchiectasis semapv:MappingInversion +MONDO:0004822 bronchiectasis skos:closeMatch NANDO:2200206 Bronchiectasis semapv:MappingInversion +MONDO:0004890 partial central choroid dystrophy skos:closeMatch NANDO:1200939 Central areolar choroidal dystrophy semapv:MappingInversion +MONDO:0004933 hypoplastic left heart syndrome skos:closeMatch NANDO:1200705 Hypoplastic left heart syndrome semapv:MappingInversion +MONDO:0004933 hypoplastic left heart syndrome skos:closeMatch NANDO:2100071 Hypoplastic left heart syndrome semapv:MappingInversion +MONDO:0004933 hypoplastic left heart syndrome skos:closeMatch NANDO:2200249 Hypoplastic left heart syndrome semapv:MappingInversion +MONDO:0004952 Hodgkins lymphoma skos:closeMatch NANDO:2200024 Hodgkin lymphoma semapv:MappingInversion +MONDO:0004955 obsolete metabolic syndrome skos:closeMatch NANDO:1100002 Metabolic disease semapv:MappingInversion +MONDO:0004963 T-cell acute lymphoblastic leukemia skos:closeMatch NANDO:2200003 T-cell lymphoblastic leukemia semapv:MappingInversion +MONDO:0004964 peripheral T-cell lymphoma, not otherwise specified skos:closeMatch NANDO:2200028 Peripheral T-cell lymphoma, not otherwise specified semapv:MappingInversion +MONDO:0004974 adrenal gland pheochromocytoma skos:closeMatch NANDO:2200078 Pheochromocytoma semapv:MappingInversion +MONDO:0004976 amyotrophic lateral sclerosis skos:closeMatch NANDO:1200002 Amyotrophic lateral sclerosis semapv:MappingInversion +MONDO:0004977 angioimmunoblastic T-cell lymphoma skos:closeMatch NANDO:2200029 Angioimmunoblastic T-cell lymphoma semapv:MappingInversion +MONDO:0004978 obsolete aortic stenosis skos:closeMatch NANDO:2100098 Aortic stenosis semapv:MappingInversion +MONDO:0004981 atrial fibrillation skos:closeMatch NANDO:2100051 Atrial fibrillation semapv:MappingInversion +MONDO:0004981 atrial fibrillation skos:closeMatch NANDO:2200226 Atrial fibrillation semapv:MappingInversion +MONDO:0004995 cardiovascular disorder skos:closeMatch NANDO:1100005 Cardiovascular disease semapv:MappingInversion +MONDO:0004997 chondroblastoma skos:closeMatch NANDO:2200051 Chondroblastoma semapv:MappingInversion +MONDO:0005006 clear cell sarcoma of kidney skos:closeMatch NANDO:2200044 Clear cell sarcoma of the kidney semapv:MappingInversion +MONDO:0005011 Crohn disease skos:closeMatch NANDO:1200444 Crohn's disease semapv:MappingInversion +MONDO:0005011 Crohn disease skos:closeMatch NANDO:1200446 Colonic Crohn's disease semapv:MappingInversion +MONDO:0005011 Crohn disease skos:closeMatch NANDO:2200921 Crohn's disease semapv:MappingInversion +MONDO:0005015 diabetes mellitus skos:closeMatch NANDO:2100157 Diabetes semapv:MappingInversion +MONDO:0005015 diabetes mellitus skos:closeMatch NANDO:2100158 Diabetes semapv:MappingInversion +MONDO:0005021 dilated cardiomyopathy skos:closeMatch NANDO:2100057 Dilated cardiomyopathy semapv:MappingInversion +MONDO:0005021 dilated cardiomyopathy skos:closeMatch NANDO:2200232 Dilated cardiomyopathy semapv:MappingInversion +MONDO:0005029 essential thrombocythemia skos:closeMatch NANDO:2100194 Essential thrombocythemia semapv:MappingInversion +MONDO:0005029 essential thrombocythemia skos:closeMatch NANDO:2200655 Essential thrombocythemia semapv:MappingInversion +MONDO:0005035 ganglioneuroblastoma skos:closeMatch NANDO:2200041 Ganglioneuroblastoma semapv:MappingInversion +MONDO:0005045 hypertrophic cardiomyopathy skos:closeMatch NANDO:1200286 Hypertrophic cardiomyopathy semapv:MappingInversion +MONDO:0005045 hypertrophic cardiomyopathy skos:closeMatch NANDO:1200288 Hypertrophic obstructive cardiomyopathy semapv:MappingInversion +MONDO:0005045 hypertrophic cardiomyopathy skos:closeMatch NANDO:2100054 Hypertrophic cardiomyopathy semapv:MappingInversion +MONDO:0005045 hypertrophic cardiomyopathy skos:closeMatch NANDO:2200229 Hypertrophic cardiomyopathy semapv:MappingInversion +MONDO:0005045 hypertrophic cardiomyopathy skos:closeMatch NANDO:2201042 Hypertrophic obstructive cardiomyopathy semapv:MappingInversion +MONDO:0005046 immune system disorder skos:closeMatch NANDO:1100004 Immune system disease semapv:MappingInversion +MONDO:0005046 immune system disorder skos:closeMatch NANDO:2100202 Immune system disease semapv:MappingInversion +MONDO:0005058 leiomyosarcoma skos:closeMatch NANDO:2200064 Leiomyosarcoma semapv:MappingInversion +MONDO:0005059 leukemia skos:closeMatch NANDO:2100002 Leukemia semapv:MappingInversion +MONDO:0005060 liposarcoma skos:closeMatch NANDO:2200065 Liposarcoma semapv:MappingInversion +MONDO:0005062 lymphoma skos:closeMatch NANDO:2100004 Lymphoma semapv:MappingInversion +MONDO:0005066 metabolic disease skos:closeMatch NANDO:1100002 Metabolic disease semapv:MappingInversion +MONDO:0005068 myocardial infarction skos:closeMatch NANDO:2200248 Myocardial infarction semapv:MappingInversion +MONDO:0005072 neuroblastoma skos:closeMatch NANDO:2200040 Neuroblastoma semapv:MappingInversion +MONDO:0005086 renal cell carcinoma skos:closeMatch NANDO:2200045 Renal cell carcinoma semapv:MappingInversion +MONDO:0005087 respiratory system disorder skos:closeMatch NANDO:1100010 Respiratory disease semapv:MappingInversion +MONDO:0005093 skin disorder skos:closeMatch NANDO:2100281 Skin disease semapv:MappingInversion +MONDO:0005100 systemic sclerosis skos:closeMatch NANDO:1200277 Systemic sclerosis semapv:MappingInversion +MONDO:0005100 systemic sclerosis skos:closeMatch NANDO:2200429 Systemic sclerosis semapv:MappingInversion +MONDO:0005101 ulcerative colitis skos:closeMatch NANDO:1200449 Ulcerative colitis semapv:MappingInversion +MONDO:0005101 ulcerative colitis skos:closeMatch NANDO:2200920 Ulcerative colitis semapv:MappingInversion +MONDO:0005102 undifferentiated (embryonal) sarcoma skos:closeMatch NANDO:2200058 Undifferentiated sarcoma semapv:MappingInversion +MONDO:0005105 melanoma skos:closeMatch NANDO:2200077 Malignant melanoma semapv:MappingInversion +MONDO:0005109 HIV infectious disease skos:closeMatch NANDO:2200810 HIV infection semapv:MappingInversion +MONDO:0005147 type 1 diabetes mellitus skos:closeMatch NANDO:2200460 Diabetes mellitus type 1 semapv:MappingInversion +MONDO:0005148 type 2 diabetes mellitus skos:closeMatch NANDO:2200461 Diabetes mellitus type 2 semapv:MappingInversion +MONDO:0005151 endocrine system disorder skos:closeMatch NANDO:1100009 Endocrine disease semapv:MappingInversion +MONDO:0005151 endocrine system disorder skos:closeMatch NANDO:2100109 Endocrine disease semapv:MappingInversion +MONDO:0005152 hypopituitarism skos:closeMatch NANDO:1200387 Hypopituitarism syndrome semapv:MappingInversion +MONDO:0005152 hypopituitarism skos:closeMatch NANDO:2100110 Hypopituitarism semapv:MappingInversion +MONDO:0005155 cirrhosis of liver skos:closeMatch NANDO:2100268 Liver cirrhosis semapv:MappingInversion +MONDO:0005155 cirrhosis of liver skos:closeMatch NANDO:2200937 Liver cirrhosis semapv:MappingInversion +MONDO:0005160 aortic aneurysm skos:closeMatch NANDO:2100101 Aortic aneurysm semapv:MappingInversion +MONDO:0005160 aortic aneurysm skos:closeMatch NANDO:2200294 Aortic aneurysm semapv:MappingInversion +MONDO:0005164 fibrosarcoma skos:closeMatch NANDO:2200060 Fibrosarcoma semapv:MappingInversion +MONDO:0005180 Parkinson disease skos:closeMatch NANDO:1200010 Parkinson's disease semapv:MappingInversion +MONDO:0005181 progressive external ophthalmoplegia skos:closeMatch NANDO:1200174 Chronic progressive external ophthalmoplegia semapv:MappingInversion +MONDO:0005201 restrictive cardiomyopathy skos:closeMatch NANDO:1200292 Restrictive cardiomyopathy semapv:MappingInversion +MONDO:0005201 restrictive cardiomyopathy skos:closeMatch NANDO:1200293 Idiopathic restrictive cardiomyopathy semapv:MappingInversion +MONDO:0005201 restrictive cardiomyopathy skos:closeMatch NANDO:2100058 Restrictive cardiomyopathy semapv:MappingInversion +MONDO:0005201 restrictive cardiomyopathy skos:closeMatch NANDO:2200233 Restrictive cardiomyopathy semapv:MappingInversion +MONDO:0005204 primary antiphospholipid syndrome skos:closeMatch NANDO:1200267 Primary antiphospholipid antibody syndrome semapv:MappingInversion +MONDO:0005207 choriocarcinoma skos:closeMatch NANDO:2200070 Choriocarcinoma semapv:MappingInversion +MONDO:0005212 rhabdomyosarcoma skos:closeMatch NANDO:2200056 Rhabdomyosarcoma semapv:MappingInversion +MONDO:0005223 acute myeloid leukemia with minimal differentiation skos:closeMatch NANDO:2200004 Acute myeloid leukemia with minimal differentiation semapv:MappingInversion +MONDO:0005224 acute myeloblastic leukemia without maturation skos:closeMatch NANDO:2200005 Acute myeloid leukemia without maturation semapv:MappingInversion +MONDO:0005265 inflammatory bowel disease skos:closeMatch NANDO:2100259 Inflammatory bowel disease semapv:MappingInversion +MONDO:0005300 chronic kidney disease skos:closeMatch NANDO:2100008 Chronic kidney disease semapv:MappingInversion +MONDO:0005300 chronic kidney disease skos:closeMatch NANDO:2100023 Chronic renal failure semapv:MappingInversion +MONDO:0005301 multiple sclerosis skos:closeMatch NANDO:1200023 Multiple sclerosis semapv:MappingInversion +MONDO:0005301 multiple sclerosis skos:closeMatch NANDO:2100250 Multiple sclerosis semapv:MappingInversion +MONDO:0005301 multiple sclerosis skos:closeMatch NANDO:2200904 Multiple sclerosis semapv:MappingInversion +MONDO:0005306 ankylosing spondylitis skos:closeMatch NANDO:1200870 Ankylosing spondylitis semapv:MappingInversion +MONDO:0005310 atrial flutter skos:closeMatch NANDO:2100050 Atrial flutter semapv:MappingInversion +MONDO:0005310 atrial flutter skos:closeMatch NANDO:2200218 Multiple atrial tachycardia semapv:MappingInversion +MONDO:0005310 atrial flutter skos:closeMatch NANDO:2200225 Atrial flutter semapv:MappingInversion +MONDO:0005314 relapsing-remitting multiple sclerosis skos:closeMatch NANDO:1200024 Relapsing-remitting multiple sclerosis semapv:MappingInversion +MONDO:0005314 relapsing-remitting multiple sclerosis skos:closeMatch NANDO:2201319 Relapsing-remitting multiple sclerosis semapv:MappingInversion +MONDO:0005342 IgA glomerulonephritis skos:closeMatch NANDO:1200366 IgA nephropathy semapv:MappingInversion +MONDO:0005342 IgA glomerulonephritis skos:closeMatch NANDO:2200121 IgA nephropathy semapv:MappingInversion +MONDO:0005361 eosinophilic esophagitis skos:closeMatch NANDO:1200456 Eosinophilic esophagitis semapv:MappingInversion +MONDO:0005363 inherited focal segmental glomerulosclerosis skos:closeMatch NANDO:1200722 Focal segmental glomerulosclerosis semapv:MappingInversion +MONDO:0005363 inherited focal segmental glomerulosclerosis skos:closeMatch NANDO:2200113 Focal segmental glomerulosclerosis semapv:MappingInversion +MONDO:0005364 Graves disease skos:closeMatch NANDO:2200328 Basedow disease semapv:MappingInversion +MONDO:0005369 carcinoid tumor skos:closeMatch NANDO:2200396 Carcinoid syndrome semapv:MappingInversion +MONDO:0005376 membranous glomerulonephritis skos:closeMatch NANDO:1200721 Membranous nephropathy semapv:MappingInversion +MONDO:0005376 membranous glomerulonephritis skos:closeMatch NANDO:2200114 Membranous nephropathy semapv:MappingInversion +MONDO:0005377 nephrotic syndrome skos:closeMatch NANDO:2100009 Nephrotic syndrome semapv:MappingInversion +MONDO:0005381 bone disorder skos:closeMatch NANDO:2100291 Bone disease semapv:MappingInversion +MONDO:0005381 bone disorder skos:closeMatch NANDO:2100293 Bone disease semapv:MappingInversion +MONDO:0005385 vascular disorder skos:closeMatch NANDO:2100294 Vascular disease semapv:MappingInversion +MONDO:0005387 primary ovarian failure skos:closeMatch NANDO:2100139 Hypergonadotropic hypogonadism semapv:MappingInversion +MONDO:0005388 primary biliary cholangitis skos:closeMatch NANDO:1200439 Primary biliary cholangitis semapv:MappingInversion +MONDO:0005420 hypothyroidism skos:closeMatch NANDO:2100120 Hypothyroidism semapv:MappingInversion +MONDO:0005429 prion disease skos:closeMatch NANDO:1200186 Prion disease semapv:MappingInversion +MONDO:0005437 testicular dysgenesis syndrome skos:closeMatch NANDO:2200383 Testicular dysgenesis semapv:MappingInversion +MONDO:0005439 familial hypercholesterolemia skos:closeMatch NANDO:2200602 Familial hypercholesterolemia semapv:MappingInversion +MONDO:0005440 embryonal carcinoma skos:closeMatch NANDO:2200067 Embryonal carcinoma semapv:MappingInversion +MONDO:0005477 ventricular tachycardia skos:closeMatch NANDO:2100049 Ventricular tachycardia semapv:MappingInversion +MONDO:0005479 atrial tachycardia skos:closeMatch NANDO:2200218 Multiple atrial tachycardia semapv:MappingInversion +MONDO:0005508 hereditary multiple osteochondromas skos:closeMatch NANDO:2200049 Osteochondromatosis semapv:MappingInversion +MONDO:0005508 hereditary multiple osteochondromas skos:closeMatch NANDO:2201014 Multiple cartilaginous exostosis semapv:MappingInversion +MONDO:0005508 hereditary multiple osteochondromas skos:closeMatch NANDO:2201015 Enchondromatosis semapv:MappingInversion +MONDO:0005532 Crohn's colitis skos:closeMatch NANDO:1200446 Colonic Crohn's disease semapv:MappingInversion +MONDO:0005533 distal colitis skos:closeMatch NANDO:1200451 Left-sided colitis semapv:MappingInversion +MONDO:0005534 ileocolitis skos:closeMatch NANDO:1200447 Crohn ileocolitis semapv:MappingInversion +MONDO:0005536 pancolitis skos:closeMatch NANDO:1200450 Pan-ulcerative colitis semapv:MappingInversion +MONDO:0005539 small bowel Crohn disease skos:closeMatch NANDO:1200445 small bowel Crohn disease semapv:MappingInversion +MONDO:0005549 renal cell adenocarcinoma skos:closeMatch NANDO:2200045 Renal cell carcinoma semapv:MappingInversion +MONDO:0005554 rheumatic disorder skos:closeMatch NANDO:2100151 Collagen disease semapv:MappingInversion +MONDO:0005554 rheumatic disorder skos:closeMatch NANDO:2100152 Collagen disease semapv:MappingInversion +MONDO:0005556 lupus nephritis skos:closeMatch NANDO:2200128 Lupus nephritis semapv:MappingInversion +MONDO:0005570 hematologic disorder skos:closeMatch NANDO:1100006 Blood disease semapv:MappingInversion +MONDO:0005570 hematologic disorder skos:closeMatch NANDO:2100175 Blood disease semapv:MappingInversion +MONDO:0005624 atrophic thyroiditis skos:closeMatch NANDO:2200336 Atrophic thyroiditis semapv:MappingInversion +MONDO:0005648 aortic valve insufficiency skos:closeMatch NANDO:2200307 Aortic valve regurgitation semapv:MappingInversion +MONDO:0005711 congenital diaphragmatic hernia skos:closeMatch NANDO:1200911 Congenital diaphragmatic hernia semapv:MappingInversion +MONDO:0005711 congenital diaphragmatic hernia skos:closeMatch NANDO:2100040 Congenital diaphragmatic hernia semapv:MappingInversion +MONDO:0005711 congenital diaphragmatic hernia skos:closeMatch NANDO:2200210 Congenital diaphragmatic hernia semapv:MappingInversion +MONDO:0005713 obsolete MONDO:0005713 skos:closeMatch NANDO:2200890 Congenital rubella syndrome semapv:MappingInversion +MONDO:0005715 congenital toxoplasmosis skos:closeMatch NANDO:2200892 Congenital toxoplasmosis semapv:MappingInversion +MONDO:0005744 yolk sac tumor skos:closeMatch NANDO:2200069 Yolk sac tumour semapv:MappingInversion +MONDO:0005764 follicular dendritic cell sarcoma skos:closeMatch NANDO:2200034 Follicular dendritic cell sarcoma semapv:MappingInversion +MONDO:0005775 G6PD deficiency skos:closeMatch NANDO:2200627 Glucose-6-phosphate dehydrogenase deficiency semapv:MappingInversion +MONDO:0005803 hyperinsulinemic hypoglycemia skos:closeMatch NANDO:2100143 Hyperinsulinemic hypoglycemia semapv:MappingInversion +MONDO:0005803 hyperinsulinemic hypoglycemia skos:closeMatch NANDO:2200399 Congenital hyperinsulinemia semapv:MappingInversion +MONDO:0005804 hyperprolactinemia skos:closeMatch NANDO:2100115 Hyperprolactinemia semapv:MappingInversion +MONDO:0005804 hyperprolactinemia skos:closeMatch NANDO:2200322 Hyperprolactinemia semapv:MappingInversion +MONDO:0005810 infectious mononucleosis skos:closeMatch NANDO:1200668 Pfeiffer syndrome semapv:MappingInversion +MONDO:0005810 infectious mononucleosis skos:closeMatch NANDO:2200976 Pfeiffer syndrome semapv:MappingInversion +MONDO:0005813 interdigitating dendritic cell sarcoma skos:closeMatch NANDO:2200035 Interdigitating dendritic cell sarcoma semapv:MappingInversion +MONDO:0005827 lipoatrophic diabetes skos:closeMatch NANDO:2200465 Lipoatrophic diabetes semapv:MappingInversion +MONDO:0005852 mitral valve stenosis skos:closeMatch NANDO:1200963 Congenital mitral stenosis semapv:MappingInversion +MONDO:0005852 mitral valve stenosis skos:closeMatch NANDO:2200302 Mitral valve stenosis semapv:MappingInversion +MONDO:0005854 mixed connective tissue disease skos:closeMatch NANDO:1200278 Mixed connective tissue disease semapv:MappingInversion +MONDO:0005854 mixed connective tissue disease skos:closeMatch NANDO:2200430 Mixed connective tissue disease semapv:MappingInversion +MONDO:0005965 spinal stenosis skos:closeMatch NANDO:1200372 Coexisting cervical and lumbar spinal stenosis semapv:MappingInversion +MONDO:0005997 tricuspid valve stenosis skos:closeMatch NANDO:2200300 Tricuspid valve stenosis semapv:MappingInversion +MONDO:0006007 vesicoureteral reflux skos:closeMatch NANDO:2200179 Vesicoureteral reflux semapv:MappingInversion +MONDO:0006055 sex cord-stromal tumor skos:closeMatch NANDO:2200072 Sex-cord stromal tumour semapv:MappingInversion +MONDO:0006238 growth hormone-producing pituitary gland adenoma skos:closeMatch NANDO:1200385 Growth hormone secreting pituitary adenoma semapv:MappingInversion +MONDO:0006238 growth hormone-producing pituitary gland adenoma skos:closeMatch NANDO:1200386 Diencephalo-hypophysial dysfunction-syndrome of abnormal secretion of growth hormone semapv:MappingInversion +MONDO:0006287 malignancy in giant cell tumor of bone skos:closeMatch NANDO:2200052 Malignancy in giant cell tumour of bone semapv:MappingInversion +MONDO:0006373 pituitary gland adenoma skos:closeMatch NANDO:2200095 Pituitary adenoma semapv:MappingInversion +MONDO:0006412 sinus histiocytosis with massive lymphadenopathy skos:closeMatch NANDO:2200039 Rosai-Dorfman disease semapv:MappingInversion +MONDO:0006444 teratoma with malignant transformation skos:closeMatch NANDO:2200107 Teratoma with malignant transformation semapv:MappingInversion +MONDO:0006451 thymic carcinoma skos:closeMatch NANDO:2200079 Malignant thymoma semapv:MappingInversion +MONDO:0006536 congenital generalized lipodystrophy skos:closeMatch NANDO:1200859 Generalized congenital lipodystrophy semapv:MappingInversion +MONDO:0006541 epidermolysis bullosa skos:closeMatch NANDO:1200234 Epidermolysis bullosa semapv:MappingInversion +MONDO:0006541 epidermolysis bullosa skos:closeMatch NANDO:2100284 Epidermolysis bullosa semapv:MappingInversion +MONDO:0006541 epidermolysis bullosa skos:closeMatch NANDO:2201000 Epidermolysis bullosa semapv:MappingInversion +MONDO:0006573 lipodystrophy skos:closeMatch NANDO:1200858 Lipodystrophy semapv:MappingInversion +MONDO:0006573 lipodystrophy skos:closeMatch NANDO:2100147 Lipodystrophy semapv:MappingInversion +MONDO:0006573 lipodystrophy skos:closeMatch NANDO:2200404 Lipodystrophy semapv:MappingInversion +MONDO:0006594 pemphigus skos:closeMatch NANDO:1200228 Pemphigus semapv:MappingInversion +MONDO:0006639 adrenal cortex carcinoma skos:closeMatch NANDO:2200073 Adrenocortical carcinoma semapv:MappingInversion +MONDO:0006656 aortitis skos:closeMatch NANDO:1200251 Takayasu arteritis semapv:MappingInversion +MONDO:0006656 aortitis skos:closeMatch NANDO:2200423 Takayasu arteritis semapv:MappingInversion +MONDO:0006657 obsolete apparent mineralocorticoid excess syndrome skos:closeMatch NANDO:2100130 Apparent mineralocorticoid excess syndrome semapv:MappingInversion +MONDO:0006657 obsolete apparent mineralocorticoid excess syndrome skos:closeMatch NANDO:2200362 Apparent mineralocorticoid excess syndrome semapv:MappingInversion +MONDO:0006664 atrial septal defect skos:closeMatch NANDO:2100085 Atrial septal defect semapv:MappingInversion +MONDO:0006689 obsolete carcinoid syndrome skos:closeMatch NANDO:2200396 Carcinoid syndrome semapv:MappingInversion +MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy skos:closeMatch NANDO:1200030 Chronic inflammatory demyelinating polyneuropathy semapv:MappingInversion +MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy skos:closeMatch NANDO:2100251 Chronic inflammatory demyelinating polyneuropathy semapv:MappingInversion +MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy skos:closeMatch NANDO:2200905 Chronic inflammatory demyelinating polyneuropathy semapv:MappingInversion +MONDO:0006711 constrictive pericarditis skos:closeMatch NANDO:2100064 Constrictive pericarditis semapv:MappingInversion +MONDO:0006711 constrictive pericarditis skos:closeMatch NANDO:2200239 Constrictive pericarditis semapv:MappingInversion +MONDO:0006715 coronary stenosis skos:closeMatch NANDO:2200246 Stenosis or atresia of coronary artery semapv:MappingInversion +MONDO:0006779 heart aneurysm skos:closeMatch NANDO:2200234 Aneurysm of ventricle semapv:MappingInversion +MONDO:0006785 obsolete Henoch-Schoenlein purpura skos:closeMatch NANDO:1200741 Henoch-Schonlein purpura nephritis semapv:MappingInversion +MONDO:0006795 hypersplenism skos:closeMatch NANDO:2200637 Hypersplenism semapv:MappingInversion +MONDO:0006802 inappropriate ADH syndrome skos:closeMatch NANDO:1200376 Syndrome of inappropriate secretion of antidiuretic hormone semapv:MappingInversion +MONDO:0006802 inappropriate ADH syndrome skos:closeMatch NANDO:2100116 Syndrome of inappropriate secretion of antidiuretic hormone semapv:MappingInversion +MONDO:0006802 inappropriate ADH syndrome skos:closeMatch NANDO:2200323 Syndrome of inappropriate secretion of antidiuretic hormone semapv:MappingInversion +MONDO:0006823 Klinefelter syndrome skos:closeMatch NANDO:2200386 Klinefelter syndrome semapv:MappingInversion +MONDO:0006835 lipoid nephrosis skos:closeMatch NANDO:1200720 Minimal change nephrotic syndrome semapv:MappingInversion +MONDO:0006835 lipoid nephrosis skos:closeMatch NANDO:2200112 Minimal change nephrotic syndrome semapv:MappingInversion +MONDO:0006935 pulmonary subvalvular stenosis skos:closeMatch NANDO:2100092 Subvalvular pulmonary stenosis semapv:MappingInversion +MONDO:0006935 pulmonary subvalvular stenosis skos:closeMatch NANDO:2200276 Subvalvular pulmonary stenosis semapv:MappingInversion +MONDO:0006936 pulmonary valve stenosis skos:closeMatch NANDO:2200304 Pulmonary valve stenosis semapv:MappingInversion +MONDO:0006947 renovascular hypertension skos:closeMatch NANDO:2100016 Renovascular hypertension semapv:MappingInversion +MONDO:0006947 renovascular hypertension skos:closeMatch NANDO:2200141 Renovascular hypertension semapv:MappingInversion +MONDO:0006987 subvalvular aortic stenosis skos:closeMatch NANDO:2100093 Subvalvular aortic stenosis semapv:MappingInversion +MONDO:0006987 subvalvular aortic stenosis skos:closeMatch NANDO:2200277 Subvalvular aortic stenosis semapv:MappingInversion +MONDO:0007012 variant Creutzfeldt-Jakob disease skos:closeMatch NANDO:1200194 Variant Creutzfeldt-Jakob disease semapv:MappingInversion +MONDO:0007029 branchio-oto-renal syndrome skos:closeMatch NANDO:1200675 Branchio-oto-renal syndrome semapv:MappingInversion +MONDO:0007032 prune belly syndrome skos:closeMatch NANDO:2200185 Prune belly syndrome semapv:MappingInversion +MONDO:0007037 Achondroplasia skos:closeMatch NANDO:1200877 Achondroplasia semapv:MappingInversion +MONDO:0007037 Achondroplasia skos:closeMatch NANDO:2201009 Achondroplasia semapv:MappingInversion +MONDO:0007039 neurofibromatosis type 2 skos:closeMatch NANDO:1200227 Neurofibromatosis type 2 semapv:MappingInversion +MONDO:0007041 Apert syndrome skos:closeMatch NANDO:1200667 Apert syndrome semapv:MappingInversion +MONDO:0007041 Apert syndrome skos:closeMatch NANDO:2200844 Apert syndrome semapv:MappingInversion +MONDO:0007042 Saethre-Chotzen syndrome skos:closeMatch NANDO:2200848 Saethre-Chotzen syndrome semapv:MappingInversion +MONDO:0007043 Pfeiffer syndrome skos:closeMatch NANDO:1200668 Pfeiffer syndrome semapv:MappingInversion +MONDO:0007043 Pfeiffer syndrome skos:closeMatch NANDO:2200976 Pfeiffer syndrome semapv:MappingInversion +MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:closeMatch NANDO:1200323 Adenosine deaminase deficiency semapv:MappingInversion +MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:closeMatch NANDO:2200696 Adenosine deaminase deficiency semapv:MappingInversion +MONDO:0007078 Pseudohypoparathyroidism type 1A skos:closeMatch NANDO:1201075 Pseudohypoparathyroidism type 1A semapv:MappingInversion +MONDO:0007097 Finnish type amyloidosis skos:closeMatch NANDO:1201063 Familial amyloid polyneuropathy type 4 semapv:MappingInversion +MONDO:0007099 familial visceral amyloidosis skos:closeMatch NANDO:2200138 Amyloid nephropathy semapv:MappingInversion +MONDO:0007100 familial amyloid neuropathy skos:closeMatch NANDO:1200214 Familial amyloid polyneuropathy semapv:MappingInversion +MONDO:0007100 familial amyloid neuropathy skos:closeMatch NANDO:1201060 Familial amyloid polyneuropathy type 1 semapv:MappingInversion +MONDO:0007109 congenital dyserythropoietic anemia type 3 skos:closeMatch NANDO:1200888 Congenital dyserythropoietic anemia type III semapv:MappingInversion +MONDO:0007113 Angelman syndrome skos:closeMatch NANDO:1200686 Angelman syndrome semapv:MappingInversion +MONDO:0007113 Angelman syndrome skos:closeMatch NANDO:2200960 Angelman syndrome semapv:MappingInversion +MONDO:0007130 congenital total pulmonary venous return anomaly skos:closeMatch NANDO:2200271 Total anomalous pulmonary venous connection semapv:MappingInversion +MONDO:0007140 obsolete antiphospholipid syndrome skos:closeMatch NANDO:1200271 Antiphospholipid antibody-related disease semapv:MappingInversion +MONDO:0007140 obsolete antiphospholipid syndrome skos:closeMatch NANDO:2200421 Anti-phospholipid antibody syndrome semapv:MappingInversion +MONDO:0007154 arteriovenous malformations of the brain skos:closeMatch NANDO:2100229 Cerebral arteriovenous malformation semapv:MappingInversion +MONDO:0007154 arteriovenous malformations of the brain skos:closeMatch NANDO:2200851 Cerebral arteriovenous malformation semapv:MappingInversion +MONDO:0007160 Stickler syndrome type 1 skos:closeMatch NANDO:2201354 Stickler syndrome type 1 semapv:MappingInversion +MONDO:0007182 Machado-Joseph disease skos:closeMatch NANDO:1200041 Spinocerebellar ataxia type 3 semapv:MappingInversion +MONDO:0007187 nevoid basal cell carcinoma syndrome skos:closeMatch NANDO:2200828 Gorlin syndrome semapv:MappingInversion +MONDO:0007191 Behcet disease skos:closeMatch NANDO:1200284 Behcet's disease semapv:MappingInversion +MONDO:0007191 Behcet disease skos:closeMatch NANDO:2200422 Behcet's disease semapv:MappingInversion +MONDO:0007203 blue rubber bleb nevus skos:closeMatch NANDO:2201027 Blue rubber bleb nevus syndrome semapv:MappingInversion +MONDO:0007256 hepatocellular carcinoma skos:closeMatch NANDO:2200047 Hepatocellular carcinoma semapv:MappingInversion +MONDO:0007294 central core myopathy skos:closeMatch NANDO:1200479 Central core disease semapv:MappingInversion +MONDO:0007294 central core myopathy skos:closeMatch NANDO:2200870 Central core disease semapv:MappingInversion +MONDO:0007296 spinocerebellar ataxia type 31 skos:closeMatch NANDO:1200044 Spinocerebellar ataxia type 31 semapv:MappingInversion +MONDO:0007315 cherubism skos:closeMatch NANDO:2200444 Cherubism semapv:MappingInversion +MONDO:0007318 Alagille syndrome skos:closeMatch NANDO:1200918 Alagille syndrome semapv:MappingInversion +MONDO:0007318 Alagille syndrome skos:closeMatch NANDO:1200919 Typical Alagille syndrome semapv:MappingInversion +MONDO:0007318 Alagille syndrome skos:closeMatch NANDO:2200931 Alagille syndrome semapv:MappingInversion +MONDO:0007322 chondrodysplasia punctata, tibial-metacarpal type skos:closeMatch NANDO:2201359 Chondrodysplasia punctata, tibial-metacarpal type semapv:MappingInversion +MONDO:0007326 obsolete paroxysmal nonkinesigenic dyskinesia 1 skos:closeMatch NANDO:1200519 Dystonia 8 semapv:MappingInversion +MONDO:0007345 aorta coarctation skos:closeMatch NANDO:2200283 Coarctation of the aorta semapv:MappingInversion +MONDO:0007345 aorta coarctation skos:closeMatch NANDO:2200284 Coarctation complex semapv:MappingInversion +MONDO:0007361 C1 inhibitor deficiency skos:closeMatch NANDO:1200365 Hereditary angioedema semapv:MappingInversion +MONDO:0007361 C1 inhibitor deficiency skos:closeMatch NANDO:2200795 Hereditary angioedema semapv:MappingInversion +MONDO:0007363 congenital contractural arachnodactyly skos:closeMatch NANDO:2201026 Beals syndrome semapv:MappingInversion +MONDO:0007369 hereditary coproporphyria skos:closeMatch NANDO:1200813 Hereditary coproporphyria semapv:MappingInversion +MONDO:0007369 hereditary coproporphyria skos:closeMatch NANDO:2201264 Hereditary coproporphyria semapv:MappingInversion +MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:closeMatch NANDO:1200189 Familial Creutzfeldt-Jakob disease semapv:MappingInversion +MONDO:0007404 Cri-du-chat syndrome skos:closeMatch NANDO:1200684 5p deletion syndrome semapv:MappingInversion +MONDO:0007404 Cri-du-chat syndrome skos:closeMatch NANDO:2200961 5p- syndrome semapv:MappingInversion +MONDO:0007405 Crouzon syndrome skos:closeMatch NANDO:1200666 Crouzon's syndrome semapv:MappingInversion +MONDO:0007405 Crouzon syndrome skos:closeMatch NANDO:2200845 Crouzon disease semapv:MappingInversion +MONDO:0007414 Gorham-Stout disease skos:closeMatch NANDO:1200878 Lymphangiomatosis / Gorham-Stout disease semapv:MappingInversion +MONDO:0007414 Gorham-Stout disease skos:closeMatch NANDO:1200880 obsolete Gorham disease semapv:MappingInversion +MONDO:0007432 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy skos:closeMatch NANDO:1200545 Cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy semapv:MappingInversion +MONDO:0007435 dentatorubral-pallidoluysian atrophy skos:closeMatch NANDO:1200043 Dentatorubropallidoluysian atrophy semapv:MappingInversion +MONDO:0007450 neurohypophyseal diabetes insipidus skos:closeMatch NANDO:2201050 Familial central diabetes insipidus semapv:MappingInversion +MONDO:0007452 maturity-onset diabetes of the young type 1 skos:closeMatch NANDO:2200461 Diabetes mellitus type 2 semapv:MappingInversion +MONDO:0007452 maturity-onset diabetes of the young type 1 skos:closeMatch NANDO:2201069 Maturity-onset diabetes of the young type 1 semapv:MappingInversion +MONDO:0007453 maturity-onset diabetes of the young type 2 skos:closeMatch NANDO:2201070 Maturity-onset diabetes of the young type 2 semapv:MappingInversion +MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch NANDO:1200512 Dystonia 1 semapv:MappingInversion +MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch NANDO:2100240 Dystonia musculorum deformans semapv:MappingInversion +MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch NANDO:2200884 Dystonia musculorum deformans semapv:MappingInversion +MONDO:0007493 torsion dystonia 4 skos:closeMatch NANDO:1200515 Dystonia 4 semapv:MappingInversion +MONDO:0007494 obsolete episodic kinesigenic dyskinesia 1 skos:closeMatch NANDO:1200521 Dystonia 10 semapv:MappingInversion +MONDO:0007495 dystonia 5 skos:closeMatch NANDO:1200516 Dystonia 5 semapv:MappingInversion +MONDO:0007496 dystonia 12 skos:closeMatch NANDO:1200523 Dystonia 12 semapv:MappingInversion +MONDO:0007496 dystonia 12 skos:closeMatch NANDO:1200524 Rapid-onset dystonia-parkinsonism semapv:MappingInversion +MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:closeMatch NANDO:1200646 Ehlers-Danlos syndrome, classical type semapv:MappingInversion +MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:closeMatch NANDO:2201256 Ehlers-Danlos syndrome, classical type semapv:MappingInversion +MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:closeMatch NANDO:1200647 Ehlers-Danlos syndrome, hypermobility type semapv:MappingInversion +MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:closeMatch NANDO:2201257 Ehlers-Danlos syndrome, hypermobility type semapv:MappingInversion +MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:closeMatch NANDO:1200650 Ehlers-Danlos syndrome, arthrochalasis type semapv:MappingInversion +MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:closeMatch NANDO:2201260 Ehlers-Danlos syndrome, arthrochalasis type semapv:MappingInversion +MONDO:0007534 Beckwith-Wiedemann syndrome skos:closeMatch NANDO:2200959 Beckwith-Wiedemann syndrome semapv:MappingInversion +MONDO:0007540 multiple endocrine neoplasia type 1 skos:closeMatch NANDO:2200405 Multiple endocrine neoplasia type 1 semapv:MappingInversion +MONDO:0007542 Camurati-Engelmann disease skos:closeMatch NANDO:2200970 Camurati-Engelmann disease semapv:MappingInversion +MONDO:0007606 fibrodysplasia ossificans progressiva skos:closeMatch NANDO:1200871 Fibrodysplasia ossificans progressiva semapv:MappingInversion +MONDO:0007606 fibrodysplasia ossificans progressiva skos:closeMatch NANDO:2201020 Fibrodysplasia ossificans progressiva semapv:MappingInversion +MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome skos:closeMatch NANDO:1200190 Gerstmann-Straussler-Scheinker syndrome semapv:MappingInversion +MONDO:0007669 renal cysts and diabetes syndrome skos:closeMatch NANDO:2201073 Maturity-onset diabetes of the young type 5 semapv:MappingInversion +MONDO:0007671 fibronectin glomerulopathy skos:closeMatch NANDO:2200133 Glomerulopathy with fibronectin deposits, fibronectin nephropathy semapv:MappingInversion +MONDO:0007691 Guillain-Barre syndrome, familial skos:closeMatch NANDO:1200030 Chronic inflammatory demyelinating polyneuropathy semapv:MappingInversion +MONDO:0007691 Guillain-Barre syndrome, familial skos:closeMatch NANDO:2100251 Chronic inflammatory demyelinating polyneuropathy semapv:MappingInversion +MONDO:0007691 Guillain-Barre syndrome, familial skos:closeMatch NANDO:2200905 Chronic inflammatory demyelinating polyneuropathy semapv:MappingInversion +MONDO:0007699 Hashimoto thyroiditis skos:closeMatch NANDO:2200335 Hashimoto disease semapv:MappingInversion +MONDO:0007708 Kasabach-Merritt syndrome skos:closeMatch NANDO:2100297 Kasabach-Merritt syndrome semapv:MappingInversion +MONDO:0007708 Kasabach-Merritt syndrome skos:closeMatch NANDO:2201035 Kasabach-Merritt syndrome semapv:MappingInversion +MONDO:0007727 autosomal dominant familial periodic fever skos:closeMatch NANDO:1200472 TNF receptor-associated periodic fever syndrome semapv:MappingInversion +MONDO:0007727 autosomal dominant familial periodic fever skos:closeMatch NANDO:2200433 TNF receptor-associated periodic fever syndrome semapv:MappingInversion +MONDO:0007739 Huntington disease skos:closeMatch NANDO:1200012 Huntington's disease semapv:MappingInversion +MONDO:0007741 congenital hydronephrosis skos:closeMatch NANDO:2200176 Ureteropelvic junction obstruction semapv:MappingInversion +MONDO:0007750 hypercholesterolemia, familial, 1 skos:closeMatch NANDO:2200602 Familial hypercholesterolemia semapv:MappingInversion +MONDO:0007793 hypochondroplasia skos:closeMatch NANDO:2201010 Hypochondroplasia semapv:MappingInversion +MONDO:0007794 hypogonadotropic hypogonadism 7 with or without anosmia skos:closeMatch NANDO:1200382 Idiopathic hypogonadotropic hypogonadism semapv:MappingInversion +MONDO:0007803 multiple system atrophy skos:closeMatch NANDO:1200034 Multiple system atrophy semapv:MappingInversion +MONDO:0007813 superficial epidermolytic ichthyosis skos:closeMatch NANDO:1200613 Superficial epidermolytic ichthyosis semapv:MappingInversion +MONDO:0007813 superficial epidermolytic ichthyosis skos:closeMatch NANDO:2200990 Superficial epidermolytic ichthyosis semapv:MappingInversion +MONDO:0007827 inclusion body myositis skos:closeMatch NANDO:1200032 Sporadic inclusion body myositis semapv:MappingInversion +MONDO:0007827 inclusion body myositis skos:closeMatch NANDO:1200218 Distal myopathy with rimmed vacuoles semapv:MappingInversion +MONDO:0007864 angioosteohypertrophic syndrome skos:closeMatch NANDO:1200884 Klippel-Trenaunay-Weber syndrome semapv:MappingInversion +MONDO:0007864 angioosteohypertrophic syndrome skos:closeMatch NANDO:2201030 Klippel-Trenaunay-Weber syndrome semapv:MappingInversion +MONDO:0007875 Larsen syndrome skos:closeMatch NANDO:2201019 Larsen syndrome semapv:MappingInversion +MONDO:0007879 larynx atresia skos:closeMatch NANDO:2200190 Laryngeal stenosis semapv:MappingInversion +MONDO:0007895 platyspondylic dysplasia, Torrance type skos:closeMatch NANDO:2201347 Platyspondylic dysplasia, Torrance type semapv:MappingInversion +MONDO:0007896 acute monocytic leukemia skos:closeMatch NANDO:2200008 Acute monocytic leukemia semapv:MappingInversion +MONDO:0007896 acute monocytic leukemia skos:closeMatch NANDO:2200009 Acute monocytic leukemia semapv:MappingInversion +MONDO:0007915 systemic lupus erythematosus skos:closeMatch NANDO:1200272 Systemic lupus erythematosus semapv:MappingInversion +MONDO:0007915 systemic lupus erythematosus skos:closeMatch NANDO:2200416 Systemic lupus erythematosus semapv:MappingInversion +MONDO:0007947 Marfan syndrome skos:closeMatch NANDO:1200644 Marfan syndrome semapv:MappingInversion +MONDO:0007947 Marfan syndrome skos:closeMatch NANDO:2200968 Marfan syndrome semapv:MappingInversion +MONDO:0007954 obsolete May-Hegglin anomaly skos:closeMatch NANDO:1200893 Epstein syndrome semapv:MappingInversion +MONDO:0007954 obsolete May-Hegglin anomaly skos:closeMatch NANDO:2100193 May-Hegglin anomaly semapv:MappingInversion +MONDO:0007954 obsolete May-Hegglin anomaly skos:closeMatch NANDO:2200127 Epstein syndrome semapv:MappingInversion +MONDO:0007954 obsolete May-Hegglin anomaly skos:closeMatch NANDO:2200654 May-Hegglin anomaly semapv:MappingInversion +MONDO:0007959 medulloblastoma skos:closeMatch NANDO:2200090 Medulloblastoma semapv:MappingInversion +MONDO:0007960 obsolete megacystis-microcolon-intestinal hypoperistalsis syndrome skos:closeMatch NANDO:1200459 Megacystis-microcolon-intestinal hypoperistalsis syndrome semapv:MappingInversion +MONDO:0007960 obsolete megacystis-microcolon-intestinal hypoperistalsis syndrome skos:closeMatch NANDO:2200947 Megacystis-microcolon-intestinal hypoperistalsis syndrome semapv:MappingInversion +MONDO:0007970 melorheostosis skos:closeMatch NANDO:2201364 Melorheostosis semapv:MappingInversion +MONDO:0007987 Kniest dysplasia skos:closeMatch NANDO:2201350 Kniest dysplasia semapv:MappingInversion +MONDO:0008006 Mobius syndrome skos:closeMatch NANDO:1200559 Moebius syndrome semapv:MappingInversion +MONDO:0008006 Mobius syndrome skos:closeMatch NANDO:2200980 Moebius syndrome semapv:MappingInversion +MONDO:0008029 Bethlem myopathy skos:closeMatch NANDO:1200220 Bethlem Myopathy semapv:MappingInversion +MONDO:0008039 tropical spastic paraparesis skos:closeMatch NANDO:1200206 HTLV-1-associated myelopathy semapv:MappingInversion +MONDO:0008054 juvenile dermatomyositis skos:closeMatch NANDO:2200418 Juvenile dermatomyositis semapv:MappingInversion +MONDO:0008061 nail-patella syndrome skos:closeMatch NANDO:1200967 Nail-patella syndrome semapv:MappingInversion +MONDO:0008061 nail-patella syndrome skos:closeMatch NANDO:2200132 Nail-patella syndrome semapv:MappingInversion +MONDO:0008082 multiple endocrine neoplasia type 2B skos:closeMatch NANDO:2201053 Multiple endocrine neoplasia type 2B semapv:MappingInversion +MONDO:0008090 cyclic hematopoiesis skos:closeMatch NANDO:1200354 Cyclic neutropenia semapv:MappingInversion +MONDO:0008090 cyclic hematopoiesis skos:closeMatch NANDO:2200746 Cyclic neutropenia semapv:MappingInversion +MONDO:0008116 oculopharyngeal muscular dystrophy skos:closeMatch NANDO:1200493 Oculopharyngeal muscular dystrophy semapv:MappingInversion +MONDO:0008119 spinocerebellar ataxia type 1 skos:closeMatch NANDO:1200045 Spinocerebellar ataxia type 1 semapv:MappingInversion +MONDO:0008120 obsolete spinocerebellar ataxia type 7 skos:closeMatch NANDO:1200047 Spinocerebellar ataxia type 7 semapv:MappingInversion +MONDO:0008145 Ollier disease skos:closeMatch NANDO:2200049 Osteochondromatosis semapv:MappingInversion +MONDO:0008145 Ollier disease skos:closeMatch NANDO:2201015 Enchondromatosis semapv:MappingInversion +MONDO:0008185 hereditary chronic pancreatitis skos:closeMatch NANDO:1200921 Hereditary pancreatitis semapv:MappingInversion +MONDO:0008185 hereditary chronic pancreatitis skos:closeMatch NANDO:2200942 Hereditary pancreatitis semapv:MappingInversion +MONDO:0008195 paramyotonia congenita of Von Eulenburg skos:closeMatch NANDO:1200501 Paramyotonia congenita semapv:MappingInversion +MONDO:0008201 Perry syndrome skos:closeMatch NANDO:1200547 Perry syndrome semapv:MappingInversion +MONDO:0008218 Hailey-Hailey disease skos:closeMatch NANDO:1200631 Benign familial pemphigus semapv:MappingInversion +MONDO:0008219 pemphigus vulgaris skos:closeMatch NANDO:1200229 Pemphigus vulgaris semapv:MappingInversion +MONDO:0008221 prolidase deficiency skos:closeMatch NANDO:2200472 Prolidase deficiency semapv:MappingInversion +MONDO:0008222 Andersen-Tawil syndrome skos:closeMatch NANDO:1200827 Glycogen storage diseases type IV semapv:MappingInversion +MONDO:0008223 hypokalemic periodic paralysis skos:closeMatch NANDO:1200503 Hereditary hypokalemic periodic paralysis semapv:MappingInversion +MONDO:0008224 hyperkalemic periodic paralysis skos:closeMatch NANDO:1200504 Hereditary hyperkalemic periodic paralysis semapv:MappingInversion +MONDO:0008234 multiple endocrine neoplasia type 2A skos:closeMatch NANDO:2200406 Multiple endocrine neoplasia type 2 semapv:MappingInversion +MONDO:0008234 multiple endocrine neoplasia type 2A skos:closeMatch NANDO:2201052 Multiple endocrine neoplasia type 2A semapv:MappingInversion +MONDO:0008260 Kindler syndrome skos:closeMatch NANDO:1200239 Kindler syndrome semapv:MappingInversion +MONDO:0008280 Peutz-Jeghers syndrome skos:closeMatch NANDO:2200917 Peutz-Jeghers syndrome semapv:MappingInversion +MONDO:0008283 Cronkhite-Canada syndrome skos:closeMatch NANDO:1200901 Cronkhite-Canada syndrome semapv:MappingInversion +MONDO:0008294 acute intermittent porphyria skos:closeMatch NANDO:1200812 Acute intermittent porphyria semapv:MappingInversion +MONDO:0008294 acute intermittent porphyria skos:closeMatch NANDO:2201263 Acute intermittent porphyria semapv:MappingInversion +MONDO:0008297 variegate porphyria skos:closeMatch NANDO:1200814 Variegate porphyria semapv:MappingInversion +MONDO:0008297 variegate porphyria skos:closeMatch NANDO:2201265 Variegate porphyria semapv:MappingInversion +MONDO:0008300 Prader-Willi syndrome skos:closeMatch NANDO:1200678 Prader-Willi syndrome semapv:MappingInversion +MONDO:0008300 Prader-Willi syndrome skos:closeMatch NANDO:2200411 Prader-Willi syndrome semapv:MappingInversion +MONDO:0008310 Hutchinson-Gilford progeria syndrome skos:closeMatch NANDO:1201007 Hutchinson-Gilford syndrome semapv:MappingInversion +MONDO:0008310 Hutchinson-Gilford progeria syndrome skos:closeMatch NANDO:2200833 Hutchinson-Gilford syndrome semapv:MappingInversion +MONDO:0008319 protoporphyria, erythropoietic, 1 skos:closeMatch NANDO:1200815 Erythropoietic protoporphyria semapv:MappingInversion +MONDO:0008319 protoporphyria, erythropoietic, 1 skos:closeMatch NANDO:2201266 Erythropoietic protoporphyria semapv:MappingInversion +MONDO:0008322 pseudoachondroplasia skos:closeMatch NANDO:2201018 Pseudoachondroplasia semapv:MappingInversion +MONDO:0008323 Liddle syndrome skos:closeMatch NANDO:2100131 Liddle syndrome semapv:MappingInversion +MONDO:0008323 Liddle syndrome skos:closeMatch NANDO:2200363 Liddle syndrome semapv:MappingInversion +MONDO:0008332 platelet-type von Willebrand disease skos:closeMatch NANDO:2200668 Platelet-type von Willebrand disease semapv:MappingInversion +MONDO:0008343 pulmonary atresia with ventricular septal defect skos:closeMatch NANDO:1200708 Pulmonary atresia with ventricular septal defect semapv:MappingInversion +MONDO:0008343 pulmonary atresia with ventricular septal defect skos:closeMatch NANDO:2200252 Pulmonary atresia with ventricular septal defect semapv:MappingInversion +MONDO:0008345 obsolete idiopathic pulmonary fibrosis skos:closeMatch NANDO:1200417 Idiopathic pulmonary fibrosis semapv:MappingInversion +MONDO:0008346 pulmonary hemosiderosis skos:closeMatch NANDO:1200751 Alveolar hypoventilation syndrome semapv:MappingInversion +MONDO:0008346 pulmonary hemosiderosis skos:closeMatch NANDO:2100037 Idiopathic pulmonary hemosiderosis semapv:MappingInversion +MONDO:0008346 pulmonary hemosiderosis skos:closeMatch NANDO:2200207 Idiopathic pulmonary hemosiderosis semapv:MappingInversion +MONDO:0008367 red cell phospholipid defect with hemolysis skos:closeMatch NANDO:2200634 Xerocytosis with high phosphatidylcholine hemolytic anemia semapv:MappingInversion +MONDO:0008380 retinoblastoma skos:closeMatch NANDO:2200042 Retinoblastoma semapv:MappingInversion +MONDO:0008428 septooptic dysplasia skos:closeMatch NANDO:1200560 Septo-optic dysplasia / De Morsier syndrome semapv:MappingInversion +MONDO:0008428 septooptic dysplasia skos:closeMatch NANDO:1200561 Septo-optic dysplasia semapv:MappingInversion +MONDO:0008428 septooptic dysplasia skos:closeMatch NANDO:2200820 Septo-optic dysplasia semapv:MappingInversion +MONDO:0008434 Smith-Magenis syndrome skos:closeMatch NANDO:1200687 Smith-Magenis syndrome semapv:MappingInversion +MONDO:0008434 Smith-Magenis syndrome skos:closeMatch NANDO:2200954 Smith-Magenis syndrome semapv:MappingInversion +MONDO:0008457 spinocerebellar ataxia type 6 skos:closeMatch NANDO:1200042 Spinocerebellar ataxia type 6 semapv:MappingInversion +MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch NANDO:1200046 Spinocerebellar ataxia type 2 semapv:MappingInversion +MONDO:0008471 spondyloepiphyseal dysplasia congenita skos:closeMatch NANDO:2201348 Spondyloepiphyseal dysplasia congenita semapv:MappingInversion +MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type skos:closeMatch NANDO:2201349 Spondyloepimetaphyseal dysplasia, Strudwick type semapv:MappingInversion +MONDO:0008487 polycystic ovary syndrome skos:closeMatch NANDO:2100149 Polycystic ovary syndrome semapv:MappingInversion +MONDO:0008487 polycystic ovary syndrome skos:closeMatch NANDO:2200409 Polycystic ovary syndrome semapv:MappingInversion +MONDO:0008501 Sturge-Weber syndrome skos:closeMatch NANDO:1200606 Sturge-Weber syndrome semapv:MappingInversion +MONDO:0008501 Sturge-Weber syndrome skos:closeMatch NANDO:2200830 Sturge-Weber syndrome semapv:MappingInversion +MONDO:0008503 Worster-Drought syndrome skos:closeMatch NANDO:1200558 Congenital suprabulbar paresis semapv:MappingInversion +MONDO:0008504 supravalvular aortic stenosis skos:closeMatch NANDO:2200285 Supravalvular aortic stenosis semapv:MappingInversion +MONDO:0008523 Blau syndrome skos:closeMatch NANDO:1200476 Blau syndrome semapv:MappingInversion +MONDO:0008523 Blau syndrome skos:closeMatch NANDO:2200434 Blau syndrome, early onset sarcoidosis semapv:MappingInversion +MONDO:0008538 temporal arteritis skos:closeMatch NANDO:1200258 Giant cell arteritis semapv:MappingInversion +MONDO:0008538 temporal arteritis skos:closeMatch NANDO:1200259 Cranial giant cell arteritis semapv:MappingInversion +MONDO:0008538 temporal arteritis skos:closeMatch NANDO:1200260 Large-vessel giant cell arteritis semapv:MappingInversion +MONDO:0008542 tetralogy of fallot skos:closeMatch NANDO:1200709 Tetralogy of Fallot semapv:MappingInversion +MONDO:0008542 tetralogy of fallot skos:closeMatch NANDO:2100075 Tetralogy of Fallot semapv:MappingInversion +MONDO:0008542 tetralogy of fallot skos:closeMatch NANDO:2200254 Tetralogy of Fallot semapv:MappingInversion +MONDO:0008546 thanatophoric dysplasia type 1 skos:closeMatch NANDO:1200875 Thanatophoric dysplasia type 1 semapv:MappingInversion +MONDO:0008547 thanatophoric dysplasia type 2 skos:closeMatch NANDO:1200876 Thanatophoric dysplasia type 2 semapv:MappingInversion +MONDO:0008555 thrombocytopenia 2 skos:closeMatch NANDO:2200663 Autosomal dominant thrombocytopenia 2 semapv:MappingInversion +MONDO:0008556 thrombocytopenia, cyclic skos:closeMatch NANDO:2100192 Cyclic thrombocytopenia semapv:MappingInversion +MONDO:0008556 thrombocytopenia, cyclic skos:closeMatch NANDO:2200653 Cyclic thrombocytopenia semapv:MappingInversion +MONDO:0008558 autoimmune thrombocytopenic purpura skos:closeMatch NANDO:1200315 Idiopathic thrombocytopenic purpura semapv:MappingInversion +MONDO:0008558 autoimmune thrombocytopenic purpura skos:closeMatch NANDO:2200645 Immune thrombocytopenic purpura semapv:MappingInversion +MONDO:0008564 DiGeorge syndrome skos:closeMatch NANDO:1200339 Thymus hypoplasia semapv:MappingInversion +MONDO:0008564 DiGeorge syndrome skos:closeMatch NANDO:1200688 22q11.2 deletion syndrome semapv:MappingInversion +MONDO:0008564 DiGeorge syndrome skos:closeMatch NANDO:2200712 Thymus hypoplasia semapv:MappingInversion +MONDO:0008608 Down syndrome skos:closeMatch NANDO:2200965 Down syndrome semapv:MappingInversion +MONDO:0008628 ureterocele skos:closeMatch NANDO:2200183 Ureteroceles semapv:MappingInversion +MONDO:0008633 Muckle-Wells syndrome skos:closeMatch NANDO:1200467 Muckle-Wells syndrome semapv:MappingInversion +MONDO:0008633 Muckle-Wells syndrome skos:closeMatch NANDO:2201067 Muckle-Wells syndrome semapv:MappingInversion +MONDO:0008642 VACTERL/vater association skos:closeMatch NANDO:1200657 VATER syndrome semapv:MappingInversion +MONDO:0008642 VACTERL/vater association skos:closeMatch NANDO:2200983 VATER syndrome semapv:MappingInversion +MONDO:0008644 velocardiofacial syndrome skos:closeMatch NANDO:1200339 Thymus hypoplasia semapv:MappingInversion +MONDO:0008644 velocardiofacial syndrome skos:closeMatch NANDO:1200688 22q11.2 deletion syndrome semapv:MappingInversion +MONDO:0008644 velocardiofacial syndrome skos:closeMatch NANDO:2200712 Thymus hypoplasia semapv:MappingInversion +MONDO:0008667 von Hippel-Lindau disease skos:closeMatch NANDO:2200408 Von Hippel-Lindau disease semapv:MappingInversion +MONDO:0008667 von Hippel-Lindau disease skos:closeMatch NANDO:2200829 von Hippel-Lindau disease semapv:MappingInversion +MONDO:0008674 obsolete WHIM syndrome skos:closeMatch NANDO:2200767 WHIM syndrome semapv:MappingInversion +MONDO:0008678 Williams syndrome skos:closeMatch NANDO:1200664 Williams syndrome semapv:MappingInversion +MONDO:0008678 Williams syndrome skos:closeMatch NANDO:2200286 Williams syndrome semapv:MappingInversion +MONDO:0008682 Denys-Drash syndrome skos:closeMatch NANDO:2200116 Denys-Drash syndrome semapv:MappingInversion +MONDO:0008684 Wolf-Hirschhorn syndrome skos:closeMatch NANDO:1200683 4p deletion syndrome semapv:MappingInversion +MONDO:0008684 Wolf-Hirschhorn syndrome skos:closeMatch NANDO:2200962 4p- Syndrome semapv:MappingInversion +MONDO:0008685 Wolff-Parkinson-White syndrome skos:closeMatch NANDO:2200217 Supraventricular tachycardia due to WPW syndrome semapv:MappingInversion +MONDO:0008692 abetalipoproteinemia skos:closeMatch NANDO:1200857 Abetalipoproteinemia semapv:MappingInversion +MONDO:0008692 abetalipoproteinemia skos:closeMatch NANDO:2200604 Abetalipoproteinemia semapv:MappingInversion +MONDO:0008695 chorea-acanthocytosis skos:closeMatch NANDO:1200014 Chorea-acanthocytosis semapv:MappingInversion +MONDO:0008702 achondrogenesis type II skos:closeMatch NANDO:2201345 Achondrogenesis type 2 semapv:MappingInversion +MONDO:0008703 acromesomelic dysplasia 2A skos:closeMatch NANDO:2201345 Achondrogenesis type 2 semapv:MappingInversion +MONDO:0008703 acromesomelic dysplasia 2A skos:closeMatch NANDO:2201346 Hypochondrogenesis semapv:MappingInversion +MONDO:0008713 acrodermatitis enteropathica skos:closeMatch NANDO:2200584 Acrodermatitis enteropathica semapv:MappingInversion +MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:closeMatch NANDO:2200513 Medium-chain acyl-CoA dehydrogenase deficiency semapv:MappingInversion +MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:closeMatch NANDO:2200514 Short-chain acyl-CoA dehydrogenase deficiency semapv:MappingInversion +MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency skos:closeMatch NANDO:2200512 Very-long-chain acyl-CoA dehydrogenase deficiency semapv:MappingInversion +MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency skos:closeMatch NANDO:2201139 Presymptomatic very-long-chain acyl-CoA dehydrogenase deficiency semapv:MappingInversion +MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:closeMatch NANDO:1200398 3-β-Hydroxysteroid dehydrogenase deficiency semapv:MappingInversion +MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:closeMatch NANDO:2200371 3 beta-hydroxysteroid dehydrogenase deficiency semapv:MappingInversion +MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:closeMatch NANDO:1200399 21-Hydroxylase deficiency semapv:MappingInversion +MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:closeMatch NANDO:2200374 21-Hydroxylase deficiency semapv:MappingInversion +MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch NANDO:1200400 11-β-Hydroxylase deficiency semapv:MappingInversion +MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch NANDO:2200372 11-β-Hydroxylase deficiency semapv:MappingInversion +MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:closeMatch NANDO:1200401 17-α-Hydroxylase deficiency semapv:MappingInversion +MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:closeMatch NANDO:2200373 17 alpha-hydroxylase deficiency semapv:MappingInversion +MONDO:0008737 congenital afibrinogenemia skos:closeMatch NANDO:2200672 Afibrinogenemia semapv:MappingInversion +MONDO:0008738 aganglionosis, total intestinal skos:closeMatch NANDO:1200460 Congenital isolated hypoganglionosis semapv:MappingInversion +MONDO:0008738 aganglionosis, total intestinal skos:closeMatch NANDO:2200948 Congenital Isolated Hypoganglionosis semapv:MappingInversion +MONDO:0008749 pseudohypoparathyroidism type 2 skos:closeMatch NANDO:1201078 Pseudohypoparathyroidism type 2 semapv:MappingInversion +MONDO:0008752 Alexander disease skos:closeMatch NANDO:1200554 Alexander disease semapv:MappingInversion +MONDO:0008752 Alexander disease skos:closeMatch NANDO:2200835 Alexander disease semapv:MappingInversion +MONDO:0008753 alkaptonuria skos:closeMatch NANDO:2200504 Alkaptonuria semapv:MappingInversion +MONDO:0008760 beta-ketothiolase deficiency skos:closeMatch NANDO:1200987 Beta-ketothiolase deficiency semapv:MappingInversion +MONDO:0008760 beta-ketothiolase deficiency skos:closeMatch NANDO:2200493 Beta-ketothiolase deficiency semapv:MappingInversion +MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:closeMatch NANDO:1200153 Late infantile neuronal ceroid lipofuscinosis semapv:MappingInversion +MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:closeMatch NANDO:2201242 Late infantile neuronal ceroid lipofuscinosis semapv:MappingInversion +MONDO:0008777 gelatinous drop-like corneal dystrophy skos:closeMatch NANDO:1201006 Gelatinous drop-like corneal dystrophy semapv:MappingInversion +MONDO:0008783 Tangier disease skos:closeMatch NANDO:1200854 Tangier disease semapv:MappingInversion +MONDO:0008803 Antley-Bixler syndrome skos:closeMatch NANDO:1200669 Antley-Bixler syndrome semapv:MappingInversion +MONDO:0008803 Antley-Bixler syndrome skos:closeMatch NANDO:2200975 Antley-Bixler syndrome semapv:MappingInversion +MONDO:0008814 hyperargininemia skos:closeMatch NANDO:1200807 Argininemia semapv:MappingInversion +MONDO:0008814 hyperargininemia skos:closeMatch NANDO:2200482 Hyperargininemia semapv:MappingInversion +MONDO:0008815 argininosuccinic aciduria skos:closeMatch NANDO:1200806 Argininosuccinic aciduria semapv:MappingInversion +MONDO:0008815 argininosuccinic aciduria skos:closeMatch NANDO:2200481 Argininosuccinic aciduria semapv:MappingInversion +MONDO:0008830 aspartylglucosaminuria skos:closeMatch NANDO:1200133 Aspartylglucosaminuria semapv:MappingInversion +MONDO:0008830 aspartylglucosaminuria skos:closeMatch NANDO:2200555 Aspartylglucosaminuria semapv:MappingInversion +MONDO:0008840 ataxia telangiectasia skos:closeMatch NANDO:1200331 Ataxia telangiectasia semapv:MappingInversion +MONDO:0008840 ataxia telangiectasia skos:closeMatch NANDO:2200705 Ataxia telangiectasia semapv:MappingInversion +MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:closeMatch NANDO:1200051 Ataxia-oculomotor apraxia type 1 semapv:MappingInversion +MONDO:0008846 atransferrinemia skos:closeMatch NANDO:2100180 Congenital atransferrinemia semapv:MappingInversion +MONDO:0008846 atransferrinemia skos:closeMatch NANDO:2200617 Congenital atransferrinemia semapv:MappingInversion +MONDO:0008852 obsolete congenital central hypoventilation syndrome skos:closeMatch NANDO:1200753 Congenital central hypoventilation syndrome semapv:MappingInversion +MONDO:0008852 obsolete congenital central hypoventilation syndrome skos:closeMatch NANDO:2100032 Congenital central hypoventilation syndrome semapv:MappingInversion +MONDO:0008852 obsolete congenital central hypoventilation syndrome skos:closeMatch NANDO:2200198 Congenital central hypoventilation syndrome semapv:MappingInversion +MONDO:0008855 MHC class II deficiency skos:closeMatch NANDO:1200329 MHC class II deficiency semapv:MappingInversion +MONDO:0008855 MHC class II deficiency skos:closeMatch NANDO:2200702 MHC class II deficiency semapv:MappingInversion +MONDO:0008863 sitosterolemia skos:closeMatch NANDO:1200853 Sitosterolemia semapv:MappingInversion +MONDO:0008867 biliary atresia skos:closeMatch NANDO:1200913 Biliary atresia semapv:MappingInversion +MONDO:0008867 biliary atresia skos:closeMatch NANDO:2200930 biliary atresia semapv:MappingInversion +MONDO:0008876 Bloom syndrome skos:closeMatch NANDO:1200333 Bloom syndrome semapv:MappingInversion +MONDO:0008876 Bloom syndrome skos:closeMatch NANDO:2200707 Bloom syndrome semapv:MappingInversion +MONDO:0008888 Williams-Campbell syndrome skos:closeMatch NANDO:2201040 Bronchomalacia semapv:MappingInversion +MONDO:0008889 thromboangiitis obliterans skos:closeMatch NANDO:1200266 Buerger's disease semapv:MappingInversion +MONDO:0008892 progressive familial intrahepatic cholestasis type 1 skos:closeMatch NANDO:1201043 Progressive familial intrahepatic cholestasis type 1 semapv:MappingInversion +MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency skos:closeMatch NANDO:2200773 CARD9 deficiency semapv:MappingInversion +MONDO:0008918 carnitine-acylcarnitine translocase deficiency skos:closeMatch NANDO:1200972 Carnitine-acylcarnitine translocase deficiency semapv:MappingInversion +MONDO:0008918 carnitine-acylcarnitine translocase deficiency skos:closeMatch NANDO:2200511 Carnitine-acylcarnitine translocase deficiency semapv:MappingInversion +MONDO:0008919 systemic primary carnitine deficiency disease skos:closeMatch NANDO:1200973 Systemic primary carnitine deficiency semapv:MappingInversion +MONDO:0008919 systemic primary carnitine deficiency disease skos:closeMatch NANDO:2200508 Organic cation transporter 2 deficiency semapv:MappingInversion +MONDO:0008947 bilateral striopallidodentate calcinosis skos:closeMatch NANDO:1200207 Idiopathic basal ganglia calcification semapv:MappingInversion +MONDO:0008948 cerebrotendinous xanthomatosis skos:closeMatch NANDO:1200856 Cerebrotendinous xanthomatosis semapv:MappingInversion +MONDO:0008956 obsolete congenital neuronal ceroid lipofuscinosis skos:closeMatch NANDO:1200151 Congenital neuronal ceroid lipofuscinosis semapv:MappingInversion +MONDO:0008956 obsolete congenital neuronal ceroid lipofuscinosis skos:closeMatch NANDO:2201240 Congenital neuronal ceroid lipofuscinosis semapv:MappingInversion +MONDO:0008963 Chediak-Higashi syndrome skos:closeMatch NANDO:1200350 Chédiak-Higashi syndrome semapv:MappingInversion +MONDO:0008963 Chediak-Higashi syndrome skos:closeMatch NANDO:1200639 Chédiak-Higashi syndrome semapv:MappingInversion +MONDO:0008963 Chediak-Higashi syndrome skos:closeMatch NANDO:2200724 Chédiak-Higashi syndrome semapv:MappingInversion +MONDO:0008965 CHARGE syndrome skos:closeMatch NANDO:1200464 CHARGE syndrome semapv:MappingInversion +MONDO:0008965 CHARGE syndrome skos:closeMatch NANDO:2200972 CHARGE syndrome semapv:MappingInversion +MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 skos:closeMatch NANDO:1200763 Rhizomelic chondrodysplasia punctata type 1 semapv:MappingInversion +MONDO:0008974 Greenberg dysplasia skos:closeMatch NANDO:2201361 Greenberg dysplasia semapv:MappingInversion +MONDO:0008977 chondrosarcoma skos:closeMatch NANDO:2200050 Chondrosarcoma semapv:MappingInversion +MONDO:0008978 chordoma skos:closeMatch NANDO:2200098 Chordoma semapv:MappingInversion +MONDO:0008982 central areolar choroidal dystrophy skos:closeMatch NANDO:1200939 Central areolar choroidal dystrophy semapv:MappingInversion +MONDO:0008988 citrullinemia type I skos:closeMatch NANDO:1200805 Classic citrullinemia semapv:MappingInversion +MONDO:0008988 citrullinemia type I skos:closeMatch NANDO:2200480 Argininosuccinate synthetase deficiency semapv:MappingInversion +MONDO:0008996 obsolete COACH syndrome 1 skos:closeMatch NANDO:1201050 COACH syndrome semapv:MappingInversion +MONDO:0008999 Cohen syndrome skos:closeMatch NANDO:2200750 Cohen syndrome semapv:MappingInversion +MONDO:0009006 complement component 2 deficiency skos:closeMatch NANDO:2200781 C2 deficiency semapv:MappingInversion +MONDO:0009010 aortic arch interruption skos:closeMatch NANDO:2200288 Interruption of aortic arch complex semapv:MappingInversion +MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch NANDO:2100130 Apparent mineralocorticoid excess syndrome semapv:MappingInversion +MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch NANDO:2200362 Apparent mineralocorticoid excess syndrome semapv:MappingInversion +MONDO:0009026 Costello syndrome skos:closeMatch NANDO:1200463 Costello syndrome semapv:MappingInversion +MONDO:0009026 Costello syndrome skos:closeMatch NANDO:2200971 Costello syndrome semapv:MappingInversion +MONDO:0009031 craniodiaphyseal dysplasia skos:closeMatch NANDO:2201368 Craniodiaphyseal dysplasia semapv:MappingInversion +MONDO:0009039 Baller-Gerold syndrome skos:closeMatch NANDO:1201059 Baller-Gerold syndrome semapv:MappingInversion +MONDO:0009044 Crigler-Najjar syndrome skos:closeMatch NANDO:2100272 Crigler-Najjar syndrome semapv:MappingInversion +MONDO:0009044 Crigler-Najjar syndrome skos:closeMatch NANDO:2200941 Crigler-Najjar syndrome semapv:MappingInversion +MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia skos:closeMatch NANDO:2200353 ACTH-independent macronodular adrenal hyperplasia semapv:MappingInversion +MONDO:0009050 Cushing disease due to pituitary adenoma skos:closeMatch NANDO:1200379 Cushing disease semapv:MappingInversion +MONDO:0009050 Cushing disease due to pituitary adenoma skos:closeMatch NANDO:2200350 Cushing disease semapv:MappingInversion +MONDO:0009061 cystic fibrosis skos:closeMatch NANDO:1200922 Cystic fibrosis semapv:MappingInversion +MONDO:0009061 cystic fibrosis skos:closeMatch NANDO:1201021 Cystic fibrosis semapv:MappingInversion +MONDO:0009061 cystic fibrosis skos:closeMatch NANDO:2100035 Cystic fibrosis semapv:MappingInversion +MONDO:0009061 cystic fibrosis skos:closeMatch NANDO:2200205 Cystic fibrosis semapv:MappingInversion +MONDO:0009064 ocular cystinosis skos:closeMatch NANDO:1200164 Non-nephropathic cystinosis semapv:MappingInversion +MONDO:0009064 ocular cystinosis skos:closeMatch NANDO:2201236 Non-nephropathic cystinosis semapv:MappingInversion +MONDO:0009066 juvenile nephropathic cystinosis skos:closeMatch NANDO:1200163 Intermediate cystinosis semapv:MappingInversion +MONDO:0009066 juvenile nephropathic cystinosis skos:closeMatch NANDO:2201235 Intermediate cystinosis semapv:MappingInversion +MONDO:0009067 cystinuria skos:closeMatch NANDO:2200489 Cystinuria semapv:MappingInversion +MONDO:0009072 Dandy-Walker syndrome skos:closeMatch NANDO:2200821 Dandy-Walker syndrome semapv:MappingInversion +MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly skos:closeMatch NANDO:1200658 Nasu-Hakola disease semapv:MappingInversion +MONDO:0009096 obsolete hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia skos:closeMatch NANDO:1200546 Hereditary diffuse leukoencephalopathy with spheroid semapv:MappingInversion +MONDO:0009109 lysinuric protein intolerance skos:closeMatch NANDO:1200809 Lysinuric protein intolerance semapv:MappingInversion +MONDO:0009109 lysinuric protein intolerance skos:closeMatch NANDO:2200488 Lysinuric protein intolerance semapv:MappingInversion +MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 skos:closeMatch NANDO:1200771 Rhizomelic chondrodysplasia punctata type 2 semapv:MappingInversion +MONDO:0009114 congenital sucrase-isomaltase deficiency skos:closeMatch NANDO:2200908 Congenital sucrase-isomaltase deficiency semapv:MappingInversion +MONDO:0009116 obsolete lactose intolerance skos:closeMatch NANDO:2200907 Lactose intolerance semapv:MappingInversion +MONDO:0009123 orthostatic hypotension 1 skos:closeMatch NANDO:2200597 Dopamine beta hydroxylase deficiency semapv:MappingInversion +MONDO:0009134 congenital dyserythropoietic anemia type 2 skos:closeMatch NANDO:1200887 Congenital dyserythropoietic anemia type II semapv:MappingInversion +MONDO:0009138 dysosteosclerosis skos:closeMatch NANDO:2201365 Dysosteosclerosis semapv:MappingInversion +MONDO:0009141 torsion dystonia 2 skos:closeMatch NANDO:1200513 Dystonia 2 semapv:MappingInversion +MONDO:0009144 Ebstein anomaly skos:closeMatch NANDO:1200711 Ebstein's anomaly semapv:MappingInversion +MONDO:0009144 Ebstein anomaly skos:closeMatch NANDO:2100080 Ebstein's anomaly semapv:MappingInversion +MONDO:0009144 Ebstein anomaly skos:closeMatch NANDO:2200260 Ebstein's anomaly semapv:MappingInversion +MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type skos:closeMatch NANDO:1200651 Ehlers-Danlos syndrome, dermatosparaxis type semapv:MappingInversion +MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type skos:closeMatch NANDO:2201261 Ehlers-Danlos syndrome, dermatosparaxis type semapv:MappingInversion +MONDO:0009169 endocardial fibroelastosis skos:closeMatch NANDO:2100060 Endocardial fibroelastosis semapv:MappingInversion +MONDO:0009169 endocardial fibroelastosis skos:closeMatch NANDO:2200235 Endocardial fibroelastosis semapv:MappingInversion +MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency skos:closeMatch NANDO:2200910 Enterokinase deficiency semapv:MappingInversion +MONDO:0009176 epidermodysplasia verruciformis skos:closeMatch NANDO:2200768 Epidermodysplasia verruciformis semapv:MappingInversion +MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:closeMatch NANDO:1200238 Recessive dystrophic epidermolysis bullosa semapv:MappingInversion +MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:closeMatch NANDO:2201383 Recessive dystrophic epidermolysis bullosa, generalized severe semapv:MappingInversion +MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch NANDO:1201066 Non-Herlitz junctional epidermolysis bullosa semapv:MappingInversion +MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch NANDO:2201379 Non-Herlitz junctional epidermolysis bullosa semapv:MappingInversion +MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy skos:closeMatch NANDO:2201376 Epidermolysis bullosa simplex with muscular dystrophy semapv:MappingInversion +MONDO:0009182 junctional epidermolysis bullosa Herlitz type skos:closeMatch NANDO:1201065 Herlitz junctional epidermolysis bullosa semapv:MappingInversion +MONDO:0009182 junctional epidermolysis bullosa Herlitz type skos:closeMatch NANDO:2200119 Herlitz junctional epidermolysis bullosa semapv:MappingInversion +MONDO:0009182 junctional epidermolysis bullosa Herlitz type skos:closeMatch NANDO:2201378 Herlitz junctional epidermolysis bullosa semapv:MappingInversion +MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia skos:closeMatch NANDO:2201380 Junctional epidermolysis bullosa with pyloric atresia semapv:MappingInversion +MONDO:0009194 immunodeficiency 32B skos:closeMatch NANDO:2200808 Chronic active EB virus infection semapv:MappingInversion +MONDO:0009218 Farber lipogranulomatosis skos:closeMatch NANDO:1200086 Farber disease semapv:MappingInversion +MONDO:0009218 Farber lipogranulomatosis skos:closeMatch NANDO:2200565 Farber disease semapv:MappingInversion +MONDO:0009234 congenital high-molecular-weight kininogen deficiency skos:closeMatch NANDO:2200685 High molecular weight kininogen deficiency semapv:MappingInversion +MONDO:0009238 hereditary folate malabsorption skos:closeMatch NANDO:1200810 Hereditary folate malabsorption semapv:MappingInversion +MONDO:0009238 hereditary folate malabsorption skos:closeMatch NANDO:2200592 Hereditary folate malabsorption semapv:MappingInversion +MONDO:0009249 hereditary fructose intolerance skos:closeMatch NANDO:2200531 Hereditary fructose intolerance semapv:MappingInversion +MONDO:0009251 fructose-1,6-bisphosphatase deficiency skos:closeMatch NANDO:2200535 Fructose-1,6-bisphosphatase deficiency semapv:MappingInversion +MONDO:0009254 fucosidosis skos:closeMatch NANDO:1200130 Fucosidosis semapv:MappingInversion +MONDO:0009254 fucosidosis skos:closeMatch NANDO:2200553 Fucosidosis semapv:MappingInversion +MONDO:0009255 galactokinase deficiency skos:closeMatch NANDO:2200533 Galactokinase deficiency semapv:MappingInversion +MONDO:0009257 galactose epimerase deficiency skos:closeMatch NANDO:2200534 UDP-galactose-4-epimerase deficiency semapv:MappingInversion +MONDO:0009258 classic galactosemia skos:closeMatch NANDO:1200851 Galactose-1-phosphate uridyltransferase deficiency semapv:MappingInversion +MONDO:0009258 classic galactosemia skos:closeMatch NANDO:2200532 Galactose-1-phosphate uridyltransferase deficiency semapv:MappingInversion +MONDO:0009260 GM1 gangliosidosis type 1 skos:closeMatch NANDO:1200067 Infantile GM1 gangliosidosis semapv:MappingInversion +MONDO:0009260 GM1 gangliosidosis type 1 skos:closeMatch NANDO:2201196 GM1 gangliosidosis, infantile form semapv:MappingInversion +MONDO:0009261 GM1 gangliosidosis type 2 skos:closeMatch NANDO:1200068 Juvenile GM1 gangliosidosis semapv:MappingInversion +MONDO:0009261 GM1 gangliosidosis type 2 skos:closeMatch NANDO:2201197 GM1 gangliosidosis, juvenile form semapv:MappingInversion +MONDO:0009262 GM1 gangliosidosis type 3 skos:closeMatch NANDO:1200069 Adult GM1 gangliosidosis semapv:MappingInversion +MONDO:0009262 GM1 gangliosidosis type 3 skos:closeMatch NANDO:2201198 GM1 gangliosidosis, adult form semapv:MappingInversion +MONDO:0009265 Gaucher disease type I skos:closeMatch NANDO:1200057 Gaucher disease type 1 semapv:MappingInversion +MONDO:0009265 Gaucher disease type I skos:closeMatch NANDO:2201210 Gaucher disease type 1 semapv:MappingInversion +MONDO:0009266 Gaucher disease type II skos:closeMatch NANDO:1200058 Gaucher disease type 2 semapv:MappingInversion +MONDO:0009266 Gaucher disease type II skos:closeMatch NANDO:2201211 Gaucher disease type 2 semapv:MappingInversion +MONDO:0009267 Gaucher disease type III skos:closeMatch NANDO:1200059 Gaucher disease type 3 semapv:MappingInversion +MONDO:0009267 Gaucher disease type III skos:closeMatch NANDO:2201212 Gaucher disease type 3 semapv:MappingInversion +MONDO:0009276 Bernard-Soulier syndrome skos:closeMatch NANDO:2200656 Bernard-Soulier syndrome semapv:MappingInversion +MONDO:0009278 obsolete hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency skos:closeMatch NANDO:2200516 3-hydroxy acyl-CoA dehydrogenase deficiency semapv:MappingInversion +MONDO:0009279 triple-A syndrome skos:closeMatch NANDO:1200410 Allgrove syndrome semapv:MappingInversion +MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:closeMatch NANDO:1200800 Glutaric acidemia type 1 semapv:MappingInversion +MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:closeMatch NANDO:2200501 Glutaric acidemia type 1 semapv:MappingInversion +MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch NANDO:1200801 Glutaric acidemia type 2 semapv:MappingInversion +MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch NANDO:2200502 Glutaric acidemia type 2 semapv:MappingInversion +MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch NANDO:2201153 Glycogen storage disease type 1a semapv:MappingInversion +MONDO:0009288 glycogen storage disease Ib skos:closeMatch NANDO:1200841 Hepatic glycogen storage disease type Ib semapv:MappingInversion +MONDO:0009288 glycogen storage disease Ib skos:closeMatch NANDO:2200754 Glycogen storage disease type 1b semapv:MappingInversion +MONDO:0009288 glycogen storage disease Ib skos:closeMatch NANDO:2201154 Glycogen storage disease type 1b semapv:MappingInversion +MONDO:0009290 glycogen storage disease II skos:closeMatch NANDO:1200138 Pompe disease semapv:MappingInversion +MONDO:0009290 glycogen storage disease II skos:closeMatch NANDO:1200825 Glycogen storage diseases type II semapv:MappingInversion +MONDO:0009290 glycogen storage disease II skos:closeMatch NANDO:2200569 Pompe disease semapv:MappingInversion +MONDO:0009291 glycogen storage disease III skos:closeMatch NANDO:1200826 Glycogen storage diseases type III semapv:MappingInversion +MONDO:0009291 glycogen storage disease III skos:closeMatch NANDO:1200844 Hepatic GSD type IIIc semapv:MappingInversion +MONDO:0009291 glycogen storage disease III skos:closeMatch NANDO:1201019 Hepatic glycogen storage disease type III semapv:MappingInversion +MONDO:0009291 glycogen storage disease III skos:closeMatch NANDO:2200539 Glycogen storage disease type III semapv:MappingInversion +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch NANDO:1200827 Glycogen storage diseases type IV semapv:MappingInversion +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch NANDO:1200850 Hepatic glycogen storage disease type IV semapv:MappingInversion +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch NANDO:2200540 Glycogen storage disease type IV semapv:MappingInversion +MONDO:0009293 glycogen storage disease V skos:closeMatch NANDO:1200828 Glycogen storage diseases type V semapv:MappingInversion +MONDO:0009293 glycogen storage disease V skos:closeMatch NANDO:2200541 Glycogen storage disease type V semapv:MappingInversion +MONDO:0009294 glycogen storage disease VI skos:closeMatch NANDO:1200846 Hepatic glycogen storage disease type VI semapv:MappingInversion +MONDO:0009294 glycogen storage disease VI skos:closeMatch NANDO:2200542 Glycogen storage disease type VI semapv:MappingInversion +MONDO:0009295 glycogen storage disease VII skos:closeMatch NANDO:1200823 Muscle glycogen storage disease semapv:MappingInversion +MONDO:0009295 glycogen storage disease VII skos:closeMatch NANDO:1200829 Glycogen storage diseases type VII semapv:MappingInversion +MONDO:0009295 glycogen storage disease VII skos:closeMatch NANDO:2200543 Glycogen storage disease type VII semapv:MappingInversion +MONDO:0009299 46 XX gonadal dysgenesis skos:closeMatch NANDO:2200384 Ovarian dysgenesis semapv:MappingInversion +MONDO:0009303 anti-glomerular basement membrane disease skos:closeMatch NANDO:1200717 Anti-GBM rapidly progressive glomerulonephritis semapv:MappingInversion +MONDO:0009303 anti-glomerular basement membrane disease skos:closeMatch NANDO:1200718 Goodpasture syndrome semapv:MappingInversion +MONDO:0009303 anti-glomerular basement membrane disease skos:closeMatch NANDO:2200125 Goodpasture syndrome semapv:MappingInversion +MONDO:0009308 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative skos:closeMatch NANDO:2201280 p22phox-deficient chronic granulomatous disease semapv:MappingInversion +MONDO:0009309 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 skos:closeMatch NANDO:2201281 p47phox-deficient chronic granulomatous disease semapv:MappingInversion +MONDO:0009310 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 skos:closeMatch NANDO:2201282 p67phox-deficient chronic granulomatous disease semapv:MappingInversion +MONDO:0009315 congenital factor XII deficiency skos:closeMatch NANDO:2200680 Factor XII deficiency semapv:MappingInversion +MONDO:0009318 Hallermann-Streiff syndrome skos:closeMatch NANDO:2200973 Hallermann-Streiff syndrome semapv:MappingInversion +MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:closeMatch NANDO:1200534 Neurodegeneration with brain iron accumulation type 1 semapv:MappingInversion +MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:closeMatch NANDO:2200886 Pantothenate kinase-associated neurodegeneration semapv:MappingInversion +MONDO:0009324 Hartnup disease skos:closeMatch NANDO:2200487 Hartnup disease semapv:MappingInversion +MONDO:0009326 congenital heart block skos:closeMatch NANDO:2200214 Complete atrio-ventricular block semapv:MappingInversion +MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome skos:closeMatch NANDO:1200341 Hepatic veno-occlusive disease with immunodeficiency semapv:MappingInversion +MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome skos:closeMatch NANDO:2200714 Hepatic veno-occlusive disease with immunodeficiency semapv:MappingInversion +MONDO:0009341 Mowat-Wilson syndrome skos:closeMatch NANDO:1200663 Mowat-Wilson syndrome semapv:MappingInversion +MONDO:0009341 Mowat-Wilson syndrome skos:closeMatch NANDO:2200981 Mowat-Wilson syndrome semapv:MappingInversion +MONDO:0009352 classic homocystinuria skos:closeMatch NANDO:1201039 Homocystinuria type 1 semapv:MappingInversion +MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency skos:closeMatch NANDO:1201041 Homocystinuria type 3 semapv:MappingInversion +MONDO:0009354 methylcobalamin deficiency type cblE skos:closeMatch NANDO:2201109 Methylcobalamin deficiency cblE type semapv:MappingInversion +MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease skos:closeMatch NANDO:1200803 Carbamoyl phosphate synthetase I deficiency semapv:MappingInversion +MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease skos:closeMatch NANDO:2200478 Carbamoylphosphate synthetase deficiency semapv:MappingInversion +MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch NANDO:1200808 NAGS deficiency semapv:MappingInversion +MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch NANDO:2200477 N-acetylglutamate synthetase deficiency semapv:MappingInversion +MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch NANDO:2201084 Presymptomatic N-acetylglutamate synthetase deficiency semapv:MappingInversion +MONDO:0009393 ornithine translocase deficiency skos:closeMatch NANDO:2200485 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome semapv:MappingInversion +MONDO:0009410 obsolete Addison disease skos:closeMatch NANDO:1200411 Addison's disease semapv:MappingInversion +MONDO:0009410 obsolete Addison disease skos:closeMatch NANDO:1200412 Autoimmune Addison's disease semapv:MappingInversion +MONDO:0009410 obsolete Addison disease skos:closeMatch NANDO:2200359 Other chronic adrenal insufficiency semapv:MappingInversion +MONDO:0009410 obsolete Addison disease skos:closeMatch NANDO:2200360 Addison's disease semapv:MappingInversion +MONDO:0009411 autoimmune polyendocrine syndrome type 1 skos:closeMatch NANDO:2200346 Autoimmune polyendocrinopathy type 1 semapv:MappingInversion +MONDO:0009411 autoimmune polyendocrine syndrome type 1 skos:closeMatch NANDO:2200738 Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy semapv:MappingInversion +MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:closeMatch NANDO:1200824 Glycogen storage diseases type 0 semapv:MappingInversion +MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:closeMatch NANDO:1200838 Hepatic glycogen storage disease semapv:MappingInversion +MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:closeMatch NANDO:2200537 Glycogen synthase deficiency semapv:MappingInversion +MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:closeMatch NANDO:2201151 Glycogen storage disease type 0a semapv:MappingInversion +MONDO:0009443 autosomal recessive congenital ichthyosis 4B skos:closeMatch NANDO:1200614 Harlequin ichthyosis semapv:MappingInversion +MONDO:0009443 autosomal recessive congenital ichthyosis 4B skos:closeMatch NANDO:2200992 Harlequin ichthyosis semapv:MappingInversion +MONDO:0009458 Schimke immuno-osseous dysplasia skos:closeMatch NANDO:1200337 Schimke syndrome semapv:MappingInversion +MONDO:0009458 Schimke immuno-osseous dysplasia skos:closeMatch NANDO:2200711 Schimke syndrome semapv:MappingInversion +MONDO:0009475 isovaleric acidemia skos:closeMatch NANDO:1200798 Isovaleric acidemia semapv:MappingInversion +MONDO:0009475 isovaleric acidemia skos:closeMatch NANDO:2200494 Isovaleric acidemia semapv:MappingInversion +MONDO:0009480 Joubert syndrome with oculorenal defect skos:closeMatch NANDO:1200662 Arima syndrome semapv:MappingInversion +MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency skos:closeMatch NANDO:2200499 Succinyl-CoA:3-ketoacid CoA transferase deficiency semapv:MappingInversion +MONDO:0009499 Krabbe disease skos:closeMatch NANDO:1200074 Krabbe disease semapv:MappingInversion +MONDO:0009499 Krabbe disease skos:closeMatch NANDO:2200564 Krabbe disease semapv:MappingInversion +MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch NANDO:1200602 Landau-Kleffner syndrome semapv:MappingInversion +MONDO:0009515 Norum disease skos:closeMatch NANDO:1200852 Lecithin cholesterol acyltransferase deficiency semapv:MappingInversion +MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:closeMatch NANDO:2200497 3-hydroxy-3-methylglutaric acidemia semapv:MappingInversion +MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:closeMatch NANDO:2201119 Presymptomatic 3-hydroxy-3-methylglutaric acidemia semapv:MappingInversion +MONDO:0009530 lipoid proteinosis skos:closeMatch NANDO:2200608 Lipoid proteinosis semapv:MappingInversion +MONDO:0009532 Miller-Dieker lissencephaly syndrome skos:closeMatch NANDO:1201083 Miller Dieker syndrome semapv:MappingInversion +MONDO:0009537 lymphoid interstitial pneumonia skos:closeMatch NANDO:1200424 Lymphoid interstitial pneumonia semapv:MappingInversion +MONDO:0009561 alpha-mannosidosis skos:closeMatch NANDO:1200126 Alpha-mannosidosis semapv:MappingInversion +MONDO:0009562 beta-mannosidosis skos:closeMatch NANDO:1200129 Beta-mannosidosis semapv:MappingInversion +MONDO:0009562 beta-mannosidosis skos:closeMatch NANDO:2201190 Beta-mannosidosis semapv:MappingInversion +MONDO:0009563 maple syrup urine disease skos:closeMatch NANDO:1200791 Maple syrup urine disease semapv:MappingInversion +MONDO:0009563 maple syrup urine disease skos:closeMatch NANDO:2200473 Maple syrup urine disease semapv:MappingInversion +MONDO:0009567 Marinesco-Sjogren syndrome skos:closeMatch NANDO:1200485 Marinesco-Sjogren syndrome semapv:MappingInversion +MONDO:0009572 autosomal recessive familial Mediterranean fever skos:closeMatch NANDO:1200864 Typical familial Mediterranean fever semapv:MappingInversion +MONDO:0009578 neurocutaneous melanocytosis skos:closeMatch NANDO:2200827 Neurocutaneous melanosis semapv:MappingInversion +MONDO:0009590 metachromatic leukodystrophy due to saposin B deficiency skos:closeMatch NANDO:1200082 Saposin B deficiency semapv:MappingInversion +MONDO:0009590 metachromatic leukodystrophy due to saposin B deficiency skos:closeMatch NANDO:2201205 Saposin B deficiency semapv:MappingInversion +MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch NANDO:1200080 Juvenile ｍetachromatic leukodystrophy semapv:MappingInversion +MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch NANDO:2201203 Metachromatic leukodystrophy, juvenile form semapv:MappingInversion +MONDO:0009609 methylcobalamin deficiency type cblG skos:closeMatch NANDO:2201111 Methylcobalamin deficiency cblG type semapv:MappingInversion +MONDO:0009610 3-methylglutaconic aciduria type 1 skos:closeMatch NANDO:1200990 3-methylglutaconic aciduria type I semapv:MappingInversion +MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency skos:closeMatch NANDO:1200794 Methylmalonyl-Coenzyme A mutase deficiency semapv:MappingInversion +MONDO:0009613 methylmalonic aciduria, cblA type skos:closeMatch NANDO:1200795 Methylmalonic acidemia cblA type semapv:MappingInversion +MONDO:0009613 methylmalonic aciduria, cblA type skos:closeMatch NANDO:2201105 Methylmalonic acidemia cblA type semapv:MappingInversion +MONDO:0009614 methylmalonic aciduria, cblB type skos:closeMatch NANDO:1200796 Methylmalonic acidemia cblB type semapv:MappingInversion +MONDO:0009614 methylmalonic aciduria, cblB type skos:closeMatch NANDO:2201106 Methylmalonic acidemia cblB type semapv:MappingInversion +MONDO:0009623 Nijmegen breakage syndrome skos:closeMatch NANDO:1200332 Nijmegen breakage syndrome semapv:MappingInversion +MONDO:0009623 Nijmegen breakage syndrome skos:closeMatch NANDO:2200706 Nijmegen breakage syndrome semapv:MappingInversion +MONDO:0009627 Galloway-Mowat syndrome skos:closeMatch NANDO:1200713 Galloway-Mowat syndrome semapv:MappingInversion +MONDO:0009627 Galloway-Mowat syndrome skos:closeMatch NANDO:2200120 Galloway-Mowat syndrome semapv:MappingInversion +MONDO:0009627 Galloway-Mowat syndrome skos:closeMatch NANDO:2201385 Galloway-Mowat syndrome semapv:MappingInversion +MONDO:0009635 microvillus inclusion disease skos:closeMatch NANDO:2100255 Microvillus inclusion disease semapv:MappingInversion +MONDO:0009635 microvillus inclusion disease skos:closeMatch NANDO:2200913 Microvillus inclusion disease semapv:MappingInversion +MONDO:0009641 obsolete mitochondrial complex II deficiency skos:closeMatch NANDO:1200181 Mitochondrial complex II deficiency semapv:MappingInversion +MONDO:0009650 mucolipidosis type II skos:closeMatch NANDO:1200124 Mucolipidosis II semapv:MappingInversion +MONDO:0009650 mucolipidosis type II skos:closeMatch NANDO:2200567 Mucolipidosis II semapv:MappingInversion +MONDO:0009655 mucopolysaccharidosis type 3A skos:closeMatch NANDO:1200101 Sanfilippo disease type A semapv:MappingInversion +MONDO:0009655 mucopolysaccharidosis type 3A skos:closeMatch NANDO:2201174 Mucopolysaccharidosis type III A semapv:MappingInversion +MONDO:0009656 mucopolysaccharidosis type 3B skos:closeMatch NANDO:1200102 Sanfilippo disease type B semapv:MappingInversion +MONDO:0009656 mucopolysaccharidosis type 3B skos:closeMatch NANDO:2201175 Mucopolysaccharidosis type III B semapv:MappingInversion +MONDO:0009657 mucopolysaccharidosis type 3C skos:closeMatch NANDO:1200103 Sanfilippo disease type C semapv:MappingInversion +MONDO:0009657 mucopolysaccharidosis type 3C skos:closeMatch NANDO:2201176 Mucopolysaccharidosis type III C semapv:MappingInversion +MONDO:0009658 mucopolysaccharidosis type 3D skos:closeMatch NANDO:1200104 Sanfilippo disease type D semapv:MappingInversion +MONDO:0009658 mucopolysaccharidosis type 3D skos:closeMatch NANDO:2201177 Mucopolysaccharidosis type III D semapv:MappingInversion +MONDO:0009659 mucopolysaccharidosis type 4A skos:closeMatch NANDO:1200106 Morquio syndrome type A semapv:MappingInversion +MONDO:0009659 mucopolysaccharidosis type 4A skos:closeMatch NANDO:2201178 Mucopolysaccharidosis type IV A semapv:MappingInversion +MONDO:0009660 mucopolysaccharidosis type 4B skos:closeMatch NANDO:1200107 Morquio syndrome type B semapv:MappingInversion +MONDO:0009660 mucopolysaccharidosis type 4B skos:closeMatch NANDO:2201179 Mucopolysaccharidosis type IV B semapv:MappingInversion +MONDO:0009661 mucopolysaccharidosis type 6 skos:closeMatch NANDO:1200108 Maroteaux-Lamy syndrome semapv:MappingInversion +MONDO:0009661 mucopolysaccharidosis type 6 skos:closeMatch NANDO:1200109 Maroteaux Lamy syndrome, rapidly progressing form semapv:MappingInversion +MONDO:0009661 mucopolysaccharidosis type 6 skos:closeMatch NANDO:1200110 Maroteaux Lamy syndrome, slowly progressing form semapv:MappingInversion +MONDO:0009661 mucopolysaccharidosis type 6 skos:closeMatch NANDO:2200551 Mucopolysaccharidosis type VI semapv:MappingInversion +MONDO:0009662 mucopolysaccharidosis type 7 skos:closeMatch NANDO:1200111 Sly syndrome semapv:MappingInversion +MONDO:0009662 mucopolysaccharidosis type 7 skos:closeMatch NANDO:2200552 Mucopolysaccharidosis type VII semapv:MappingInversion +MONDO:0009665 biotinidase deficiency skos:closeMatch NANDO:1200822 Biotinidase deficiency semapv:MappingInversion +MONDO:0009666 holocarboxylase synthetase deficiency skos:closeMatch NANDO:1200821 Holocarboxylase synthetase deficiency semapv:MappingInversion +MONDO:0009669 spinal muscular atrophy, type 1 skos:closeMatch NANDO:1200004 Spinal muscular atrophy type I semapv:MappingInversion +MONDO:0009672 spinal muscular atrophy, type III skos:closeMatch NANDO:1200006 Spinal muscular atrophy type III semapv:MappingInversion +MONDO:0009673 spinal muscular atrophy, type II skos:closeMatch NANDO:1200005 Spinal muscular atrophy type II semapv:MappingInversion +MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 skos:closeMatch NANDO:1200494 Fukuyama type congenital muscular dystrophy semapv:MappingInversion +MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 skos:closeMatch NANDO:2200860 Fukuyama type congenital muscular dystrophy semapv:MappingInversion +MONDO:0009681 Ullrich congenital muscular dystrophy 1 skos:closeMatch NANDO:1200215 Ullrich disease semapv:MappingInversion +MONDO:0009685 Miyoshi myopathy skos:closeMatch NANDO:1200217 Miyoshi myopathy semapv:MappingInversion +MONDO:0009688 myasthenia gravis skos:closeMatch NANDO:1200020 Myasthenia gravis semapv:MappingInversion +MONDO:0009688 myasthenia gravis skos:closeMatch NANDO:2100252 Myasthenia gravis semapv:MappingInversion +MONDO:0009688 myasthenia gravis skos:closeMatch NANDO:2200906 Myasthenia gravis semapv:MappingInversion +MONDO:0009689 congenital myasthenic syndrome 6 skos:closeMatch NANDO:1201057 Congenital myasthenic syndrome with episodic apnoea semapv:MappingInversion +MONDO:0009694 myeloperoxidase deficiency skos:closeMatch NANDO:1200358 Myeloperoxidase deficiency semapv:MappingInversion +MONDO:0009694 myeloperoxidase deficiency skos:closeMatch NANDO:2200758 Myeloperoxidase deficiency semapv:MappingInversion +MONDO:0009697 Lafora disease skos:closeMatch NANDO:1200955 Lafora disease semapv:MappingInversion +MONDO:0009697 Lafora disease skos:closeMatch NANDO:2200881 Lafora disease semapv:MappingInversion +MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch NANDO:1200954 Unverricht-Lundborg disease semapv:MappingInversion +MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch NANDO:2200880 Unverricht-Lundborg disease semapv:MappingInversion +MONDO:0009705 carnitine palmitoyl transferase 1A deficiency skos:closeMatch NANDO:1200970 Carnitine palmitoyltransferase I deficiency semapv:MappingInversion +MONDO:0009705 carnitine palmitoyl transferase 1A deficiency skos:closeMatch NANDO:2200509 Carnitine palmitoyltransferase I deficiency semapv:MappingInversion +MONDO:0009710 Thomsen and Becker disease skos:closeMatch NANDO:1200497 Myotonia congenita semapv:MappingInversion +MONDO:0009710 Thomsen and Becker disease skos:closeMatch NANDO:1200498 Thomsen disease semapv:MappingInversion +MONDO:0009711 congenital fiber-type disproportion myopathy skos:closeMatch NANDO:1200483 Congenital fiber-type disproportion myopathy semapv:MappingInversion +MONDO:0009711 congenital fiber-type disproportion myopathy skos:closeMatch NANDO:2200868 Congenital fiber-type disproportion myopathy semapv:MappingInversion +MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia skos:closeMatch NANDO:2200872 Minicore myopathy semapv:MappingInversion +MONDO:0009715 myotonia congenita, autosomal recessive skos:closeMatch NANDO:1200499 Becker disease semapv:MappingInversion +MONDO:0009717 Schwartz-Jampel syndrome skos:closeMatch NANDO:1200224 Schwartz-Jampel syndrome semapv:MappingInversion +MONDO:0009717 Schwartz-Jampel syndrome skos:closeMatch NANDO:2100235 Schwartz-Jampel syndrome semapv:MappingInversion +MONDO:0009717 Schwartz-Jampel syndrome skos:closeMatch NANDO:2200876 Schwartz-Jampel syndrome semapv:MappingInversion +MONDO:0009723 Leigh syndrome skos:closeMatch NANDO:1200175 Leigh's encephalomyelopathy semapv:MappingInversion +MONDO:0009723 Leigh syndrome skos:closeMatch NANDO:2200527 Leigh syndrome semapv:MappingInversion +MONDO:0009726 proteosome-associated autoinflammatory syndrome skos:closeMatch NANDO:1200867 Nakajo-Nishimura syndrome semapv:MappingInversion +MONDO:0009726 proteosome-associated autoinflammatory syndrome skos:closeMatch NANDO:2200435 Nakajo-Nishimura syndrome semapv:MappingInversion +MONDO:0009728 nephronophthisis 1 skos:closeMatch NANDO:1201036 Nephronophthisis semapv:MappingInversion +MONDO:0009728 nephronophthisis 1 skos:closeMatch NANDO:2200140 Nephronophthisis semapv:MappingInversion +MONDO:0009732 congenital nephrotic syndrome, Finnish type skos:closeMatch NANDO:2200110 Congenital nephrotic syndrome of the Finnish type semapv:MappingInversion +MONDO:0009735 Netherton syndrome skos:closeMatch NANDO:1200338 Netherton syndrome semapv:MappingInversion +MONDO:0009735 Netherton syndrome skos:closeMatch NANDO:1200619 Netherton syndrome semapv:MappingInversion +MONDO:0009735 Netherton syndrome skos:closeMatch NANDO:2200993 Netherton syndrome semapv:MappingInversion +MONDO:0009737 galactosialidosis skos:closeMatch NANDO:1200119 Galactosialidosis semapv:MappingInversion +MONDO:0009737 galactosialidosis skos:closeMatch NANDO:2200557 Galactosialidosis semapv:MappingInversion +MONDO:0009738 sialidosis type 2 skos:closeMatch NANDO:1200118 Sialidosis type 2 semapv:MappingInversion +MONDO:0009738 sialidosis type 2 skos:closeMatch NANDO:1200120 Galactosialidosis, early infantile form semapv:MappingInversion +MONDO:0009738 sialidosis type 2 skos:closeMatch NANDO:2201192 Sialidosis type 2 semapv:MappingInversion +MONDO:0009738 sialidosis type 2 skos:closeMatch NANDO:2201193 Galactosialidosis, early infantile form semapv:MappingInversion +MONDO:0009739 obsolete infantile neuroaxonal dystrophy skos:closeMatch NANDO:2200887 Infantile neuroaxonal dystrophy semapv:MappingInversion +MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch NANDO:1200152 Infantile neuronal ceroid lipofuscinosis semapv:MappingInversion +MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch NANDO:2201241 Infantile neuronal ceroid lipofuscinosis semapv:MappingInversion +MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 skos:closeMatch NANDO:1200553 Congenital insensitivity to pain with anhidrosis semapv:MappingInversion +MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 skos:closeMatch NANDO:2200854 Congenital insensitivity to pain with anhidrosis semapv:MappingInversion +MONDO:0009756 Niemann-Pick disease type A skos:closeMatch NANDO:1200061 Niemann-Pick disease type A semapv:MappingInversion +MONDO:0009756 Niemann-Pick disease type A skos:closeMatch NANDO:2201206 Niemann-Pick disease type A semapv:MappingInversion +MONDO:0009763 obesity-hypoventilation syndrome skos:closeMatch NANDO:1200752 Obesity hypoventilation syndrome semapv:MappingInversion +MONDO:0009774 cloacal exstrophy skos:closeMatch NANDO:1200909 Cloacal exstrophy semapv:MappingInversion +MONDO:0009774 cloacal exstrophy skos:closeMatch NANDO:1200910 Persistent cloaca semapv:MappingInversion +MONDO:0009774 cloacal exstrophy skos:closeMatch NANDO:2200950 Persistent cloaca semapv:MappingInversion +MONDO:0009774 cloacal exstrophy skos:closeMatch NANDO:2200951 Cloacal exstrophy semapv:MappingInversion +MONDO:0009787 3-methylglutaconic aciduria type 3 skos:closeMatch NANDO:1200992 3-methylglutaconic aciduria type III semapv:MappingInversion +MONDO:0009796 ornithine aminotransferase deficiency skos:closeMatch NANDO:2200484 Hyperornithinemia semapv:MappingInversion +MONDO:0009796 ornithine aminotransferase deficiency skos:closeMatch NANDO:2200486 Gyrate atrophy of choroid and retina semapv:MappingInversion +MONDO:0009797 orotic aciduria skos:closeMatch NANDO:2200590 Orotic aciduria semapv:MappingInversion +MONDO:0009799 obsolete pachydermoperiostosis skos:closeMatch NANDO:1200642 Pachydermoperiostosis semapv:MappingInversion +MONDO:0009799 obsolete pachydermoperiostosis skos:closeMatch NANDO:2100288 Pachydermoperiostosis semapv:MappingInversion +MONDO:0009799 obsolete pachydermoperiostosis skos:closeMatch NANDO:2201004 Pachydermoperiostosis semapv:MappingInversion +MONDO:0009807 osteosarcoma skos:closeMatch NANDO:2200048 Osteosarcoma semapv:MappingInversion +MONDO:0009813 chronic recurrent multifocal osteomyelitis skos:closeMatch NANDO:1200869 Chronic recurrent multifocal osteomyelitis semapv:MappingInversion +MONDO:0009813 chronic recurrent multifocal osteomyelitis skos:closeMatch NANDO:2200438 Chronic recurrent multifocal osteomyelitis semapv:MappingInversion +MONDO:0009823 primary hyperoxaluria type 1 skos:closeMatch NANDO:1200773 Primary hyperoxaluria type 1 semapv:MappingInversion +MONDO:0009833 Shwachman-Diamond syndrome skos:closeMatch NANDO:1200356 Shwachman-Diamond syndrome semapv:MappingInversion +MONDO:0009833 Shwachman-Diamond syndrome skos:closeMatch NANDO:2200756 Shwachman-Diamond syndrome semapv:MappingInversion +MONDO:0009835 subacute sclerosing panencephalitis skos:closeMatch NANDO:1200195 Subacute sclerosing panencephalitis semapv:MappingInversion +MONDO:0009835 subacute sclerosing panencephalitis skos:closeMatch NANDO:1200196 Typical subacute sclerosing panencephalitis semapv:MappingInversion +MONDO:0009835 subacute sclerosing panencephalitis skos:closeMatch NANDO:1200198 Subacute progressive sclerosing panencephalitis semapv:MappingInversion +MONDO:0009835 subacute sclerosing panencephalitis skos:closeMatch NANDO:2100245 Subacute sclerosing panencephalitis semapv:MappingInversion +MONDO:0009835 subacute sclerosing panencephalitis skos:closeMatch NANDO:2200899 Subacute sclerosing panencephalitis semapv:MappingInversion +MONDO:0009837 choroid plexus papilloma skos:closeMatch NANDO:2200093 Choroid plexus papilloma semapv:MappingInversion +MONDO:0009849 hyperimmunoglobulinemia D with periodic fever skos:closeMatch NANDO:1200866 Hyper IgD syndrome semapv:MappingInversion +MONDO:0009849 hyperimmunoglobulinemia D with periodic fever skos:closeMatch NANDO:2200436 Hyper IgD syndrome semapv:MappingInversion +MONDO:0009855 d-bifunctional protein deficiency skos:closeMatch NANDO:1200766 D-bifunctional protein deficiency semapv:MappingInversion +MONDO:0009861 phenylketonuria skos:closeMatch NANDO:1200784 Phenylketonuria semapv:MappingInversion +MONDO:0009861 phenylketonuria skos:closeMatch NANDO:1200785 Phenylalanine hydroxylase deficiency semapv:MappingInversion +MONDO:0009861 phenylketonuria skos:closeMatch NANDO:2200467 Phenylketonuria semapv:MappingInversion +MONDO:0009861 phenylketonuria skos:closeMatch NANDO:2201075 Phenylalanine hydroxylase deficiency semapv:MappingInversion +MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency skos:closeMatch NANDO:1200832 Glycogen storage diseases type X semapv:MappingInversion +MONDO:0009868 glycogen storage disease IXb skos:closeMatch NANDO:1200848 Hepatic glycogen storage disease type IXb semapv:MappingInversion +MONDO:0009868 glycogen storage disease IXb skos:closeMatch NANDO:2201165 Glycogen storage disease type IXb semapv:MappingInversion +MONDO:0009883 alpha-2-plasmin inhibitor deficiency skos:closeMatch NANDO:2200687 Alpha-2-plasmin inhibitor deficiency semapv:MappingInversion +MONDO:0009885 Scott syndrome skos:closeMatch NANDO:2200671 Scott syndrome semapv:MappingInversion +MONDO:0009887 desquamative interstitial pneumonia skos:closeMatch NANDO:1200422 Desquamative interstitial pneumonia semapv:MappingInversion +MONDO:0009887 desquamative interstitial pneumonia skos:closeMatch NANDO:1200423 Respiratory bronchiolitis-associated interstitial lung disease semapv:MappingInversion +MONDO:0009889 autosomal recessive polycystic kidney disease skos:closeMatch NANDO:1200369 Autosomal recessive polycystic kidney disease semapv:MappingInversion +MONDO:0009889 autosomal recessive polycystic kidney disease skos:closeMatch NANDO:2200154 Autosomal recessive polycystic kidney disease semapv:MappingInversion +MONDO:0009891 acquired polycythemia vera skos:closeMatch NANDO:2100186 Polycythemia vera semapv:MappingInversion +MONDO:0009891 acquired polycythemia vera skos:closeMatch NANDO:2200643 Polycythemia vera semapv:MappingInversion +MONDO:0009897 adult polyglucosan body disease skos:closeMatch NANDO:2201163 Glycogen storage disease type IV, adult form semapv:MappingInversion +MONDO:0009902 cutaneous porphyria skos:closeMatch NANDO:1200817 Congenital erythropoietic porphyria semapv:MappingInversion +MONDO:0009902 cutaneous porphyria skos:closeMatch NANDO:2201268 Congenital erythropoietic porphyria semapv:MappingInversion +MONDO:0009904 Gitelman syndrome skos:closeMatch NANDO:2100020 Gitelman syndrome semapv:MappingInversion +MONDO:0009904 Gitelman syndrome skos:closeMatch NANDO:2200145 Gitelman syndrome semapv:MappingInversion +MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:closeMatch NANDO:2200390 17 beta-hydroxysteroid dehydrogenase deficiency semapv:MappingInversion +MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency skos:closeMatch NANDO:1200765 Peroxisomal acyl-CoA oxidase deficiency semapv:MappingInversion +MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency skos:closeMatch NANDO:2200389 5 alpha-reductase deficiency semapv:MappingInversion +MONDO:0009924 vitamin D-dependent rickets, type 1 skos:closeMatch NANDO:1200782 Vitamin D-dependent rickets, type 1 semapv:MappingInversion +MONDO:0009928 pulmonary alveolar microlithiasis skos:closeMatch NANDO:2200202 Pulmonary alveolar microlithiasis semapv:MappingInversion +MONDO:0009930 obsolete pulmonary arteriovenous malformation skos:closeMatch NANDO:2200295 Pulmonary arteriovenous fistulae semapv:MappingInversion +MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome skos:closeMatch NANDO:1200707 Pulmonary atresia with intact ventricular septum semapv:MappingInversion +MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome skos:closeMatch NANDO:2200253 Pulmonary atresia with intact ventricular septum semapv:MappingInversion +MONDO:0009937 pulmonary venoocclusive disease skos:closeMatch NANDO:1200427 Pulmonary veno-occlusive disease semapv:MappingInversion +MONDO:0009940 pycnodysostosis skos:closeMatch NANDO:2201023 Pycnodysostosis semapv:MappingInversion +MONDO:0009943 Pyle disease skos:closeMatch NANDO:2201367 Metaphyseal dysplasias semapv:MappingInversion +MONDO:0009948 pyropoikilocytosis, hereditary skos:closeMatch NANDO:2200631 Hereditary pyropoikilocytosis semapv:MappingInversion +MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch NANDO:2200519 Pyruvate carboxylase deficiency semapv:MappingInversion +MONDO:0009950 pyruvate kinase deficiency of red cells skos:closeMatch NANDO:2200628 Hemolytic anemia due to red cell pyruvate kinase deficiency semapv:MappingInversion +MONDO:0009955 rapadilino syndrome skos:closeMatch NANDO:1201058 RAPADILINO syndrome semapv:MappingInversion +MONDO:0009958 adult Refsum disease skos:closeMatch NANDO:1200769 Refsum disease semapv:MappingInversion +MONDO:0009958 adult Refsum disease skos:closeMatch NANDO:2200577 Refsum disease semapv:MappingInversion +MONDO:0009973 reticular dysgenesis skos:closeMatch NANDO:1200322 Reticular dysgenesis semapv:MappingInversion +MONDO:0009973 reticular dysgenesis skos:closeMatch NANDO:2200695 Reticular dysgenesis semapv:MappingInversion +MONDO:0010002 Rothmund-Thomson syndrome skos:closeMatch NANDO:1200671 Rothmund-Thomson syndrome semapv:MappingInversion +MONDO:0010006 Sandhoff disease skos:closeMatch NANDO:1200072 Sandhoff disease semapv:MappingInversion +MONDO:0010006 Sandhoff disease skos:closeMatch NANDO:2201200 Sandhoff disease semapv:MappingInversion +MONDO:0010011 schizencephaly skos:closeMatch NANDO:1201073 Schizencephaly semapv:MappingInversion +MONDO:0010011 schizencephaly skos:closeMatch NANDO:2200818 Schizencephaly semapv:MappingInversion +MONDO:0010012 autoimmune polyendocrinopathy type 2 skos:closeMatch NANDO:2200347 Autoimmune polyendocrinopathy type 2 semapv:MappingInversion +MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency skos:closeMatch NANDO:1200327 Zap-70 deficiency semapv:MappingInversion +MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency skos:closeMatch NANDO:2200700 ZAP-70 deficiency semapv:MappingInversion +MONDO:0010027 free sialic acid storage disease, infantile form skos:closeMatch NANDO:1200147 Infantile free sialic acid storage disease semapv:MappingInversion +MONDO:0010027 free sialic acid storage disease, infantile form skos:closeMatch NANDO:2201237 Infantile free sialic acid storage disease semapv:MappingInversion +MONDO:0010030 Sjogren syndrome skos:closeMatch NANDO:1200279 Sjogren's syndrome semapv:MappingInversion +MONDO:0010030 Sjogren syndrome skos:closeMatch NANDO:1200280 Primary Sjogren's syndrome semapv:MappingInversion +MONDO:0010030 Sjogren syndrome skos:closeMatch NANDO:2200420 Sjogren's syndrome semapv:MappingInversion +MONDO:0010031 Sjogren-Larsson syndrome skos:closeMatch NANDO:1200620 Sjögren-Larsson syndrome semapv:MappingInversion +MONDO:0010031 Sjogren-Larsson syndrome skos:closeMatch NANDO:2200994 Sjögren-Larsson syndrome semapv:MappingInversion +MONDO:0010035 Smith-Lemli-Opitz syndrome skos:closeMatch NANDO:1200961 Smith-lemli-opitz syndrome semapv:MappingInversion +MONDO:0010035 Smith-Lemli-Opitz syndrome skos:closeMatch NANDO:2200979 Smith-Lemli-Opitz syndrome semapv:MappingInversion +MONDO:0010038 growth delay due to insulin-like growth factor I resistance skos:closeMatch NANDO:2200320 IGF1 insensitivity semapv:MappingInversion +MONDO:0010056 spinal muscular atrophy, type IV skos:closeMatch NANDO:1200007 Spinal muscular atrophy type IV semapv:MappingInversion +MONDO:0010066 familial isolated congenital asplenia skos:closeMatch NANDO:2200775 Isolated congenital asplenia semapv:MappingInversion +MONDO:0010078 spondyloperipheral dysplasia skos:closeMatch NANDO:2201351 Spondyloperipheral dysplasia semapv:MappingInversion +MONDO:0010079 Canavan disease skos:closeMatch NANDO:1200948 Canavan disease semapv:MappingInversion +MONDO:0010079 Canavan disease skos:closeMatch NANDO:2200834 Canavan disease semapv:MappingInversion +MONDO:0010083 succinic semialdehyde dehydrogenase deficiency skos:closeMatch NANDO:2200599 Succinic semialdehyde dehydrogenase deficiency semapv:MappingInversion +MONDO:0010088 mucosulfatidosis skos:closeMatch NANDO:1200083 Multiple sulfatase deficiency semapv:MappingInversion +MONDO:0010088 mucosulfatidosis skos:closeMatch NANDO:1200624 Multiple sulfatase deficiency semapv:MappingInversion +MONDO:0010088 mucosulfatidosis skos:closeMatch NANDO:2200566 Multiple sulfatase deficiency semapv:MappingInversion +MONDO:0010089 isolated sulfite oxidase deficiency skos:closeMatch NANDO:2200583 Sulfite oxidase deficiency semapv:MappingInversion +MONDO:0010099 Tay-Sachs disease AB variant skos:closeMatch NANDO:1200073 GM2 gangliosidosis AB variant semapv:MappingInversion +MONDO:0010099 Tay-Sachs disease AB variant skos:closeMatch NANDO:2201201 GM2 gangliosidosis AB variant semapv:MappingInversion +MONDO:0010100 Tay-Sachs disease skos:closeMatch NANDO:1200071 Tay-Sachs disease semapv:MappingInversion +MONDO:0010100 Tay-Sachs disease skos:closeMatch NANDO:2201199 Tay-Sachs disease semapv:MappingInversion +MONDO:0010119 obsolete Glanzmann's thrombasthenia skos:closeMatch NANDO:2200657 Thrombasthenia semapv:MappingInversion +MONDO:0010119 obsolete Glanzmann's thrombasthenia skos:closeMatch NANDO:2200664 ITGA2B/ITGB3 mutations semapv:MappingInversion +MONDO:0010121 thrombocytopenia-absent radius syndrome skos:closeMatch NANDO:2200661 Thrombocytopenia with absent radii semapv:MappingInversion +MONDO:0010122 congenital thrombotic thrombocytopenic purpura skos:closeMatch NANDO:1200317 Congenital thrombotic thrombocytopenic purpura semapv:MappingInversion +MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive skos:closeMatch NANDO:1200395 Resistance to thyroid hormone semapv:MappingInversion +MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive skos:closeMatch NANDO:2100121 Resistance to thyroid hormone semapv:MappingInversion +MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive skos:closeMatch NANDO:2200341 Resistance to thyroid hormone semapv:MappingInversion +MONDO:0010155 Dorfman-Chanarin disease skos:closeMatch NANDO:1200622 Dorfman-Chanarin syndrome semapv:MappingInversion +MONDO:0010155 Dorfman-Chanarin disease skos:closeMatch NANDO:1200623 Neutral lipid storage disease with ichthyosis semapv:MappingInversion +MONDO:0010155 Dorfman-Chanarin disease skos:closeMatch NANDO:2200997 Dorfman-Chanarin syndrome semapv:MappingInversion +MONDO:0010160 tyrosinemia type II skos:closeMatch NANDO:1200789 Tyrosinemia type 2 semapv:MappingInversion +MONDO:0010160 tyrosinemia type II skos:closeMatch NANDO:2200469 Tyrosinemia type 2 semapv:MappingInversion +MONDO:0010161 tyrosinemia type I skos:closeMatch NANDO:1200788 Tyrosinemia type 1 semapv:MappingInversion +MONDO:0010161 tyrosinemia type I skos:closeMatch NANDO:2200468 Tyrosinemia type 1 semapv:MappingInversion +MONDO:0010162 tyrosinemia type III skos:closeMatch NANDO:1200790 Tyrosinemia type 3 semapv:MappingInversion +MONDO:0010162 tyrosinemia type III skos:closeMatch NANDO:2200470 Tyrosinemia type 3 semapv:MappingInversion +MONDO:0010168 Usher syndrome type 1 skos:closeMatch NANDO:1200942 Usher syndrome type I semapv:MappingInversion +MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF skos:closeMatch NANDO:2201110 Methylmalonic acidemia and homocystinuria cblF type semapv:MappingInversion +MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:closeMatch NANDO:1201040 Homocystinuria type 2 semapv:MappingInversion +MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:closeMatch NANDO:2201107 Methylmalonic aciduria and homocystinuria, cblC type semapv:MappingInversion +MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch NANDO:1200797 Methylmalonic acidemia CblD type semapv:MappingInversion +MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch NANDO:2201108 Methylmalonic acidemia CblD type semapv:MappingInversion +MONDO:0010188 familial isolated deficiency of vitamin E skos:closeMatch NANDO:1200050 Ataxia with isolated vitamin E deficiency semapv:MappingInversion +MONDO:0010193 Weaver syndrome skos:closeMatch NANDO:1200659 Weaver syndrome semapv:MappingInversion +MONDO:0010193 Weaver syndrome skos:closeMatch NANDO:2200957 Weaver syndrome semapv:MappingInversion +MONDO:0010196 Werner syndrome skos:closeMatch NANDO:1200676 Werner syndrome semapv:MappingInversion +MONDO:0010196 Werner syndrome skos:closeMatch NANDO:2200831 Werner syndrome semapv:MappingInversion +MONDO:0010200 Wilson disease skos:closeMatch NANDO:1200655 Wilson disease semapv:MappingInversion +MONDO:0010200 Wilson disease skos:closeMatch NANDO:2200579 Wilson disease semapv:MappingInversion +MONDO:0010226 46,XY sex reversal 2 skos:closeMatch NANDO:1200404 DAX1 abnormality semapv:MappingInversion +MONDO:0010246 developmental and epileptic encephalopathy, 9 skos:closeMatch NANDO:1200599 PCDH19-related syndrome semapv:MappingInversion +MONDO:0010247 X-linked cerebral adrenoleukodystrophy skos:closeMatch NANDO:1200166 Childhood cerebral adrenoleukodystrophy semapv:MappingInversion +MONDO:0010247 X-linked cerebral adrenoleukodystrophy skos:closeMatch NANDO:2201246 Childhood cerebral adrenoleukodystrophy semapv:MappingInversion +MONDO:0010264 X-linked adrenal hypoplasia congenita skos:closeMatch NANDO:1200403 Congenital adrenal hypoplasia semapv:MappingInversion +MONDO:0010264 X-linked adrenal hypoplasia congenita skos:closeMatch NANDO:2200357 Congenital adrenal hypoplasia semapv:MappingInversion +MONDO:0010281 Danon disease skos:closeMatch NANDO:1200145 Danon disease semapv:MappingInversion +MONDO:0010281 Danon disease skos:closeMatch NANDO:1200222 Danon disease semapv:MappingInversion +MONDO:0010283 syndromic X-linked intellectual disability Lubs type skos:closeMatch NANDO:2200984 MECP2 duplication syndrome semapv:MappingInversion +MONDO:0010293 ectodermal dysplasia and immune deficiency skos:closeMatch NANDO:1200360 Anhidrotic ectodermal dysplasia with immunodeficiency semapv:MappingInversion +MONDO:0010293 ectodermal dysplasia and immune deficiency skos:closeMatch NANDO:2200761 Anhidrotic ectodermal dysplasia with immunodeficiency semapv:MappingInversion +MONDO:0010294 X-linked severe congenital neutropenia skos:closeMatch NANDO:2200753 X linked severe congenital neutropenia semapv:MappingInversion +MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch NANDO:2200586 Lesch-Nyhan syndrome semapv:MappingInversion +MONDO:0010305 creatine transporter deficiency skos:closeMatch NANDO:1201035 Creatine transporter deficiency semapv:MappingInversion +MONDO:0010305 creatine transporter deficiency skos:closeMatch NANDO:2201301 SLC6A8 deficiency semapv:MappingInversion +MONDO:0010311 Becker muscular dystrophy skos:closeMatch NANDO:1200489 Becker muscular dystrophy semapv:MappingInversion +MONDO:0010311 Becker muscular dystrophy skos:closeMatch NANDO:2200865 Becker muscular dystrophy semapv:MappingInversion +MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency skos:closeMatch NANDO:1200321 X-linked severe combined immunodeficiency semapv:MappingInversion +MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency skos:closeMatch NANDO:2200694 X-linked severe combined immunodeficiency semapv:MappingInversion +MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch NANDO:1200580 Allan-Herndon-Dudley syndrome semapv:MappingInversion +MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch NANDO:2201292 Allan-Herndon-Dudley syndrome semapv:MappingInversion +MONDO:0010362 glycogen storage disease IXd skos:closeMatch NANDO:1200830 Glycogen storage diseases type IXd semapv:MappingInversion +MONDO:0010362 glycogen storage disease IXd skos:closeMatch NANDO:2201167 Glycogen storage disease type IXd semapv:MappingInversion +MONDO:0010382 fragile X-associated tremor/ataxia syndrome skos:closeMatch NANDO:1200690 Fragile X syndrome related diseases semapv:MappingInversion +MONDO:0010382 fragile X-associated tremor/ataxia syndrome skos:closeMatch NANDO:1200691 Fragile X tremor/ataxia syndrome semapv:MappingInversion +MONDO:0010383 fragile X syndrome skos:closeMatch NANDO:1200692 Fragile X syndrome semapv:MappingInversion +MONDO:0010383 fragile X syndrome skos:closeMatch NANDO:2100224 Fragile X syndrome semapv:MappingInversion +MONDO:0010383 fragile X syndrome skos:closeMatch NANDO:2200840 Fragile X syndrome semapv:MappingInversion +MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:closeMatch NANDO:2201279 gp91phox-deficient chronic granulomatous disease semapv:MappingInversion +MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:closeMatch NANDO:1200831 Phosphoglycerate kinase deficiency semapv:MappingInversion +MONDO:0010420 X-linked erythropoietic protoporphyria skos:closeMatch NANDO:1200818 X-linked dominant protoporphyria semapv:MappingInversion +MONDO:0010420 X-linked erythropoietic protoporphyria skos:closeMatch NANDO:2201269 X-linked dominant protoporphyria semapv:MappingInversion +MONDO:0010421 Bruton-type agammaglobulinemia skos:closeMatch NANDO:1200343 X-linked agammaglobulinemia semapv:MappingInversion +MONDO:0010421 Bruton-type agammaglobulinemia skos:closeMatch NANDO:2200716 X-linked agammaglobulinemia semapv:MappingInversion +MONDO:0010434 synovial sarcoma skos:closeMatch NANDO:2200061 Synovial sarcoma semapv:MappingInversion +MONDO:0010518 Wiskott-Aldrich syndrome skos:closeMatch NANDO:1200330 Wiskott-Aldrich syndrome semapv:MappingInversion +MONDO:0010518 Wiskott-Aldrich syndrome skos:closeMatch NANDO:2200704 Wiskott-Aldrich syndrome semapv:MappingInversion +MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:closeMatch NANDO:1200665 ATR-X syndrome semapv:MappingInversion +MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:closeMatch NANDO:2100223 ATR-X syndrome semapv:MappingInversion +MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:closeMatch NANDO:2200839 ATR-X syndrome semapv:MappingInversion +MONDO:0010526 Fabry disease skos:closeMatch NANDO:1200157 Fabry disease semapv:MappingInversion +MONDO:0010526 Fabry disease skos:closeMatch NANDO:2200563 Fabry disease semapv:MappingInversion +MONDO:0010543 Barth syndrome skos:closeMatch NANDO:1200991 3-methylglutaconicaciduria type II semapv:MappingInversion +MONDO:0010543 Barth syndrome skos:closeMatch NANDO:2200751 Barth syndrome semapv:MappingInversion +MONDO:0010555 X-linked chondrodysplasia punctata 1 skos:closeMatch NANDO:2201356 X-linked recessive brachytelephalangic chondrodysplasia punctata semapv:MappingInversion +MONDO:0010555 X-linked chondrodysplasia punctata 1 skos:closeMatch NANDO:2201360 Brachytelephalangic chondrodysplasia punctata semapv:MappingInversion +MONDO:0010561 Coffin-Lowry syndrome skos:closeMatch NANDO:1200660 Coffin-Lowry syndrome semapv:MappingInversion +MONDO:0010561 Coffin-Lowry syndrome skos:closeMatch NANDO:2200952 Coffin-Lowry syndrome semapv:MappingInversion +MONDO:0010568 Aicardi syndrome skos:closeMatch NANDO:1200562 Aicardi syndrome semapv:MappingInversion +MONDO:0010572 occipital horn syndrome skos:closeMatch NANDO:1200654 Occipital horn syndrome semapv:MappingInversion +MONDO:0010572 occipital horn syndrome skos:closeMatch NANDO:2200581 Occipital horn syndrome semapv:MappingInversion +MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome skos:closeMatch NANDO:2200924 IPEX syndrome semapv:MappingInversion +MONDO:0010598 glycogen storage disease IXa1 skos:closeMatch NANDO:1200847 Hepatic glycogen storage disease type IXa semapv:MappingInversion +MONDO:0010598 glycogen storage disease IXa1 skos:closeMatch NANDO:2201164 Glycogen storage disease type IXa semapv:MappingInversion +MONDO:0010602 hemophilia A skos:closeMatch NANDO:2200676 Hemophilia A semapv:MappingInversion +MONDO:0010604 hemophilia B skos:closeMatch NANDO:2200677 Hemophilia B semapv:MappingInversion +MONDO:0010613 inborn glycerol kinase deficiency skos:closeMatch NANDO:2200505 Glycerol kinase deficiency semapv:MappingInversion +MONDO:0010619 X-linked dominant hypophosphatemic rickets skos:closeMatch NANDO:1200779 Vitamin D-resistant rickets semapv:MappingInversion +MONDO:0010621 CHILD syndrome skos:closeMatch NANDO:1200629 CHILD syndrome semapv:MappingInversion +MONDO:0010621 CHILD syndrome skos:closeMatch NANDO:2200998 CHILD syndrome semapv:MappingInversion +MONDO:0010621 CHILD syndrome skos:closeMatch NANDO:2201358 CHILD syndrome semapv:MappingInversion +MONDO:0010622 recessive X-linked ichthyosis skos:closeMatch NANDO:1200625 Recessive X-linked ichtyosis semapv:MappingInversion +MONDO:0010627 X-linked lymphoproliferative syndrome skos:closeMatch NANDO:1200351 X-linked lymphoproliferative syndrome semapv:MappingInversion +MONDO:0010627 X-linked lymphoproliferative syndrome skos:closeMatch NANDO:2200725 X-linked lymphoproliferative syndrome semapv:MappingInversion +MONDO:0010631 incontinentia pigmenti skos:closeMatch NANDO:2200974 Incontinentia pigmenti semapv:MappingInversion +MONDO:0010645 oculocerebrorenal syndrome skos:closeMatch NANDO:2100028 Lowe syndrome semapv:MappingInversion +MONDO:0010645 oculocerebrorenal syndrome skos:closeMatch NANDO:2200188 Lowe syndrome semapv:MappingInversion +MONDO:0010651 Menkes disease skos:closeMatch NANDO:1200653 Menkes disease semapv:MappingInversion +MONDO:0010651 Menkes disease skos:closeMatch NANDO:2200580 Menkes disease semapv:MappingInversion +MONDO:0010674 mucopolysaccharidosis type 2 skos:closeMatch NANDO:1200097 Hunter syndrome semapv:MappingInversion +MONDO:0010674 mucopolysaccharidosis type 2 skos:closeMatch NANDO:2200548 Mucopolysaccharidosis type II semapv:MappingInversion +MONDO:0010679 Duchenne muscular dystrophy skos:closeMatch NANDO:1200488 Duchenne muscular dystrophy semapv:MappingInversion +MONDO:0010679 Duchenne muscular dystrophy skos:closeMatch NANDO:2200856 Duchenne muscular dystrophy semapv:MappingInversion +MONDO:0010684 X-linked myopathy with excessive autophagy skos:closeMatch NANDO:1200223 X-linked Myopathy with excessive autophagy semapv:MappingInversion +MONDO:0010703 ornithine carbamoyltransferase deficiency skos:closeMatch NANDO:1200804 Ornithine transcarbamylase deficiency semapv:MappingInversion +MONDO:0010703 ornithine carbamoyltransferase deficiency skos:closeMatch NANDO:2200479 Ornithine transcarbamylase deficiency semapv:MappingInversion +MONDO:0010713 properdin deficiency, X-linked skos:closeMatch NANDO:2200789 Properdin deficiency semapv:MappingInversion +MONDO:0010714 Pelizaeus-Merzbacher disease skos:closeMatch NANDO:1200576 Pelizaeus-Merzbacher disease semapv:MappingInversion +MONDO:0010714 Pelizaeus-Merzbacher disease skos:closeMatch NANDO:2201288 Pelizaeus-Merzbacher disease semapv:MappingInversion +MONDO:0010725 X-linked retinoschisis skos:closeMatch NANDO:1200938 X-linked juvenile retinoschisis semapv:MappingInversion +MONDO:0010726 Rett syndrome skos:closeMatch NANDO:1200603 Rett syndrome semapv:MappingInversion +MONDO:0010726 Rett syndrome skos:closeMatch NANDO:1200604 Typical Rett syndrome semapv:MappingInversion +MONDO:0010726 Rett syndrome skos:closeMatch NANDO:2100219 Rett syndrome semapv:MappingInversion +MONDO:0010726 Rett syndrome skos:closeMatch NANDO:2200825 Rett syndrome semapv:MappingInversion +MONDO:0010731 Simpson-Golabi-Behmel syndrome skos:closeMatch NANDO:2200978 Simpson-Golabi-Behmel syndrome semapv:MappingInversion +MONDO:0010735 Kennedy disease skos:closeMatch NANDO:1200001 Spinal and bulbar muscular atrophy semapv:MappingInversion +MONDO:0010747 X-linked dystonia-parkinsonism skos:closeMatch NANDO:1200514 Dystonia 3 semapv:MappingInversion +MONDO:0010778 cyclic vomiting syndrome skos:closeMatch NANDO:2100258 Cyclic vomiting syndrome semapv:MappingInversion +MONDO:0010778 cyclic vomiting syndrome skos:closeMatch NANDO:2200919 Cyclic vomiting syndrome semapv:MappingInversion +MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch NANDO:1201064 Kearns-Sayre syndrome semapv:MappingInversion +MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch NANDO:2200529 Kearns-Sayre syndrome semapv:MappingInversion +MONDO:0010788 Leber hereditary optic neuropathy skos:closeMatch NANDO:1200178 Leber hereditary optic neuropathy semapv:MappingInversion +MONDO:0010788 Leber hereditary optic neuropathy skos:closeMatch NANDO:1200940 Leber hereditary optic neuropathy semapv:MappingInversion +MONDO:0010789 MELAS syndrome skos:closeMatch NANDO:1200176 Mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes syndrome semapv:MappingInversion +MONDO:0010789 MELAS syndrome skos:closeMatch NANDO:2200525 Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) semapv:MappingInversion +MONDO:0010790 MERRF syndrome skos:closeMatch NANDO:1200177 Myoclonus epilepsy associated with ragged-red fibers semapv:MappingInversion +MONDO:0010790 MERRF syndrome skos:closeMatch NANDO:2200526 Myoclonus epilepsy associated with ragged-red fibers semapv:MappingInversion +MONDO:0010808 fatal familial insomnia skos:closeMatch NANDO:1200191 Fatal familial insomnia semapv:MappingInversion +MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 skos:closeMatch NANDO:1200772 Rhizomelic chondrodysplasia punctata type 3 semapv:MappingInversion +MONDO:0010829 CARASIL syndrome skos:closeMatch NANDO:1200544 Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy semapv:MappingInversion +MONDO:0010857 semantic dementia skos:closeMatch NANDO:1200550 Semantic dementia semapv:MappingInversion +MONDO:0010894 maturity-onset diabetes of the young type 3 skos:closeMatch NANDO:2201071 Maturity-onset diabetes of the young type 3 semapv:MappingInversion +MONDO:0010911 prolactin-producing pituitary gland adenoma skos:closeMatch NANDO:1200378 Diencephalo-hypophysial insufficiency-inappropriate prolactin syndrome semapv:MappingInversion +MONDO:0010913 Caroli disease skos:closeMatch NANDO:2200934 Caroli disease semapv:MappingInversion +MONDO:0010931 vitamin D-dependent rickets, type 2B skos:closeMatch NANDO:1200779 Vitamin D-resistant rickets semapv:MappingInversion +MONDO:0010940 inherited susceptibility to asthma skos:closeMatch NANDO:2100031 Bronchial asthma semapv:MappingInversion +MONDO:0010940 inherited susceptibility to asthma skos:closeMatch NANDO:2200197 Bronchial asthma semapv:MappingInversion +MONDO:0010947 Budd-Chiari syndrome skos:closeMatch NANDO:1200437 Budd-Chiari syndrome semapv:MappingInversion +MONDO:0010983 dystonia 9 skos:closeMatch NANDO:1200520 Dystonia 9 semapv:MappingInversion +MONDO:0011014 pleuropulmonary blastoma skos:closeMatch NANDO:2200080 Pleuropulmonaryblastoma semapv:MappingInversion +MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome skos:closeMatch NANDO:1200526 Cerebellar ataxia, areflexia, pes cavus, optic atropy, and sensorineural hearing loss semapv:MappingInversion +MONDO:0011093 mucopolysaccharidosis type 9 skos:closeMatch NANDO:1200115 Hyaluronidase deficiency semapv:MappingInversion +MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type skos:closeMatch NANDO:1200652 Dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome semapv:MappingInversion +MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type skos:closeMatch NANDO:2201262 Dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome semapv:MappingInversion +MONDO:0011147 chromosome 18q deletion syndrome skos:closeMatch NANDO:1200579 18q-syndrome semapv:MappingInversion +MONDO:0011147 chromosome 18q deletion syndrome skos:closeMatch NANDO:2201291 18q-syndrome semapv:MappingInversion +MONDO:0011156 progressive familial intrahepatic cholestasis type 2 skos:closeMatch NANDO:1201044 Progressive familial intrahepatic cholestasis type 2 semapv:MappingInversion +MONDO:0011200 torsion dystonia 7 skos:closeMatch NANDO:1200518 Dystonia 7 semapv:MappingInversion +MONDO:0011214 progressive familial intrahepatic cholestasis type 3 skos:closeMatch NANDO:1201045 Progressive familial intrahepatic cholestasis type 3 semapv:MappingInversion +MONDO:0011230 ossification of the posterior longitudinal ligament of the spine skos:closeMatch NANDO:1200371 Ossification of posterior longitudinal ligament semapv:MappingInversion +MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome skos:closeMatch NANDO:2200823 Megalencephaly-capillary malformation syndrome semapv:MappingInversion +MONDO:0011264 torsion dystonia 6 skos:closeMatch NANDO:1200517 Dystonia 6 semapv:MappingInversion +MONDO:0011269 psoriasis 2 skos:closeMatch NANDO:2200443 CARD14 deficiency semapv:MappingInversion +MONDO:0011273 H syndrome skos:closeMatch NANDO:2200457 SLC29A3 deficiency semapv:MappingInversion +MONDO:0011281 congenital myasthenic syndrome 5 skos:closeMatch NANDO:1201056 End-plate acetylcholine esterase deficiency semapv:MappingInversion +MONDO:0011301 pseudohypoparathyroidism type 1B skos:closeMatch NANDO:1201076 Pseudohypoparathyroidism type 1B semapv:MappingInversion +MONDO:0011326 citrullinemia, type II, adult-onset skos:closeMatch NANDO:1200980 Adult-onset type II citrullinemia semapv:MappingInversion +MONDO:0011336 familial hemophagocytic lymphohistiocytosis 4 skos:closeMatch NANDO:2200730 Syntaxin 11 deficiency semapv:MappingInversion +MONDO:0011337 familial hemophagocytic lymphohistiocytosis 2 skos:closeMatch NANDO:2200728 Perforin deficiency semapv:MappingInversion +MONDO:0011338 Omenn syndrome skos:closeMatch NANDO:1200324 Omenn syndrome semapv:MappingInversion +MONDO:0011338 Omenn syndrome skos:closeMatch NANDO:2200697 Omenn syndrome semapv:MappingInversion +MONDO:0011340 congenital tracheal stenosis skos:closeMatch NANDO:1201003 Congenital tracheal stenosis semapv:MappingInversion +MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type skos:closeMatch NANDO:1200681 Young-Simpson syndrome semapv:MappingInversion +MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type skos:closeMatch NANDO:2200982 Young-Simpson syndrome semapv:MappingInversion +MONDO:0011380 obsolete leukoencephalopathy with vanishing white matter skos:closeMatch NANDO:1200951 Vanishing white matter disease semapv:MappingInversion +MONDO:0011380 obsolete leukoencephalopathy with vanishing white matter skos:closeMatch NANDO:2200838 Vanishing white matter disease semapv:MappingInversion +MONDO:0011382 sickle cell anemia skos:closeMatch NANDO:2200624 Sickle cell disease semapv:MappingInversion +MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts skos:closeMatch NANDO:1200950 Megaloencephalic leukoencephalopathy with subcortical cysts semapv:MappingInversion +MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts skos:closeMatch NANDO:2200837 Megaloencephalic leukoencephalopathy with subcortical cysts semapv:MappingInversion +MONDO:0011399 alpha thalassemia skos:closeMatch NANDO:2201273 α-thalassemia semapv:MappingInversion +MONDO:0011405 poikiloderma with neutropenia skos:closeMatch NANDO:2200749 Clericuzio-type poikiloderma with neutropenia syndrome semapv:MappingInversion +MONDO:0011426 aceruloplasminemia skos:closeMatch NANDO:1200540 Neurodegeneration with brain iron accumulation type 4 semapv:MappingInversion +MONDO:0011426 aceruloplasminemia skos:closeMatch NANDO:2200582 Aceruloplasminemia semapv:MappingInversion +MONDO:0011429 juvenile idiopathic arthritis skos:closeMatch NANDO:1200469 Juvenile idiopathic arthritis semapv:MappingInversion +MONDO:0011429 juvenile idiopathic arthritis skos:closeMatch NANDO:2200415 Juvenile idiopathic arthritis semapv:MappingInversion +MONDO:0011449 Salla disease skos:closeMatch NANDO:1200149 Salla disease semapv:MappingInversion +MONDO:0011449 Salla disease skos:closeMatch NANDO:1200582 Salla disease semapv:MappingInversion +MONDO:0011449 Salla disease skos:closeMatch NANDO:2201294 Salla disease semapv:MappingInversion +MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:closeMatch NANDO:1200868 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome semapv:MappingInversion +MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:closeMatch NANDO:2200437 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome semapv:MappingInversion +MONDO:0011469 congenital amegakaryocytic thrombocytopenia skos:closeMatch NANDO:2200651 Congenital amegakaryocytic thrombocytopenia semapv:MappingInversion +MONDO:0011476 MHC class I deficiency skos:closeMatch NANDO:1200328 MHC class I deficiency semapv:MappingInversion +MONDO:0011476 MHC class I deficiency skos:closeMatch NANDO:2200701 MHC class I deficiency semapv:MappingInversion +MONDO:0011496 mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis skos:closeMatch NANDO:2201352 Mild spondyloepiphyseal dysplasia with premature-onset arthrosis semapv:MappingInversion +MONDO:0011514 tricuspid atresia skos:closeMatch NANDO:1200706 Tricuspid atresia semapv:MappingInversion +MONDO:0011514 tricuspid atresia skos:closeMatch NANDO:1200962 Congenital tricuspid stenosis semapv:MappingInversion +MONDO:0011514 tricuspid atresia skos:closeMatch NANDO:2100073 Tricuspid atresia semapv:MappingInversion +MONDO:0011514 tricuspid atresia skos:closeMatch NANDO:2200251 Tricuspid atresia semapv:MappingInversion +MONDO:0011555 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome skos:closeMatch NANDO:2200660 Congenital thrombocytopenia with radio-ulnar synostosis semapv:MappingInversion +MONDO:0011601 neonatal intrahepatic cholestasis due to citrin deficiency skos:closeMatch NANDO:1200979 Neonatal intrahepatic cholestasis caused by citrin deficiency semapv:MappingInversion +MONDO:0011603 GNE myopathy skos:closeMatch NANDO:1200218 Distal myopathy with rimmed vacuoles semapv:MappingInversion +MONDO:0011612 glycine encephalopathy skos:closeMatch NANDO:1200984 Nonketotic hyperglycinemia semapv:MappingInversion +MONDO:0011612 glycine encephalopathy skos:closeMatch NANDO:2200476 Nonketotic hyperglycinemia semapv:MappingInversion +MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:closeMatch NANDO:2200498 3-hydroxy-3-methylglutaryl-CoA synthase deficiency semapv:MappingInversion +MONDO:0011628 propionic acidemia skos:closeMatch NANDO:1200792 Propionic acidemia semapv:MappingInversion +MONDO:0011628 propionic acidemia skos:closeMatch NANDO:2200492 Propionic acidemia semapv:MappingInversion +MONDO:0011638 neuroferritinopathy skos:closeMatch NANDO:1200539 Neurodegeneration with brain iron accumulation type 3 semapv:MappingInversion +MONDO:0011638 neuroferritinopathy skos:closeMatch NANDO:1200542 Neuroferritinopathy semapv:MappingInversion +MONDO:0011655 alveolar soft part sarcoma skos:closeMatch NANDO:2200063 Alveolar soft part sarcoma semapv:MappingInversion +MONDO:0011664 immunodeficiency due to CD25 deficiency skos:closeMatch NANDO:2200736 Immunodeficiency 41 with lymphoproliferation and autoimmunity semapv:MappingInversion +MONDO:0011667 maturity-onset diabetes of the young type 4 skos:closeMatch NANDO:2201072 Maturity-onset diabetes of the young type 4 semapv:MappingInversion +MONDO:0011705 lymphangioleiomyomatosis skos:closeMatch NANDO:1200430 Lymphangioleiomyomatosis semapv:MappingInversion +MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:closeMatch NANDO:1200799 Glucose transporter 1 deficiency semapv:MappingInversion +MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:closeMatch NANDO:2200545 Glucose transporter 1 deficiency semapv:MappingInversion +MONDO:0011730 fumaric aciduria skos:closeMatch NANDO:2200520 Fumarase deficiency semapv:MappingInversion +MONDO:0011731 glucose-galactose malabsorption skos:closeMatch NANDO:2200909 Glucose-galactose malabsorption semapv:MappingInversion +MONDO:0011758 Hurler syndrome skos:closeMatch NANDO:1200094 Hurler syndrome semapv:MappingInversion +MONDO:0011758 Hurler syndrome skos:closeMatch NANDO:2201168 Hurler Disease semapv:MappingInversion +MONDO:0011759 Hurler-Scheie syndrome skos:closeMatch NANDO:1200096 Hurler-Scheie syndrome semapv:MappingInversion +MONDO:0011759 Hurler-Scheie syndrome skos:closeMatch NANDO:2201170 Hurler-Scheie disease semapv:MappingInversion +MONDO:0011760 Scheie syndrome skos:closeMatch NANDO:1200095 Scheie syndrome semapv:MappingInversion +MONDO:0011760 Scheie syndrome skos:closeMatch NANDO:2201169 Scheie disease semapv:MappingInversion +MONDO:0011776 CINCA syndrome skos:closeMatch NANDO:1200468 Chronic infantile neurological cutaneous articular syndrome semapv:MappingInversion +MONDO:0011776 CINCA syndrome skos:closeMatch NANDO:2201066 Chronic infantile neurological cutaneous articular syndrome semapv:MappingInversion +MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B skos:closeMatch NANDO:2200740 Caspase-8 deficiency semapv:MappingInversion +MONDO:0011826 glucocorticoid deficiency 2 skos:closeMatch NANDO:1200409 MRAP deficiency semapv:MappingInversion +MONDO:0011827 patent ductus arteriosus skos:closeMatch NANDO:2100084 Patent ductus arteriosus semapv:MappingInversion +MONDO:0011827 patent ductus arteriosus skos:closeMatch NANDO:2200264 Patent ductus arteriosus semapv:MappingInversion +MONDO:0011844 myoclonic dystonia 15 skos:closeMatch NANDO:1200528 Dystonia 15 semapv:MappingInversion +MONDO:0011849 psoriatic arthritis skos:closeMatch NANDO:2201059 Psoriatic juvenile idiopathic arthritis semapv:MappingInversion +MONDO:0011871 Niemann-Pick disease type B skos:closeMatch NANDO:1200062 Niemann-Pick disease type B semapv:MappingInversion +MONDO:0011871 Niemann-Pick disease type B skos:closeMatch NANDO:2201207 Niemann-Pick disease type B semapv:MappingInversion +MONDO:0011872 Griscelli syndrome type 2 skos:closeMatch NANDO:2200732 Griscelli syndrome type 2 semapv:MappingInversion +MONDO:0011886 torsion dystonia 13 skos:closeMatch NANDO:1200527 Dystonia 13 semapv:MappingInversion +MONDO:0011888 immunodeficiency 67 skos:closeMatch NANDO:1200361 IRAK4 deficiency semapv:MappingInversion +MONDO:0011888 immunodeficiency 67 skos:closeMatch NANDO:2200762 IRAK4 deficiency semapv:MappingInversion +MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch NANDO:1200585 Ataxia, delayed dentition, and hypomyelination syndrome semapv:MappingInversion +MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch NANDO:2201297 Ataxia, delayed dentition, and hypomyelination syndrome semapv:MappingInversion +MONDO:0011908 juvenile myelomonocytic leukemia skos:closeMatch NANDO:2200014 Chronic myelomonocytic leukemia semapv:MappingInversion +MONDO:0011908 juvenile myelomonocytic leukemia skos:closeMatch NANDO:2200015 Juvenile myelomonocytic leukemia semapv:MappingInversion +MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A skos:closeMatch NANDO:2200861 Merosin-deficient congenital muscular dystrophy semapv:MappingInversion +MONDO:0011929 chromosome 1p36 deletion syndrome skos:closeMatch NANDO:1200682 1p36 deletion syndrome semapv:MappingInversion +MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation skos:closeMatch NANDO:2200744 Spondylo enchondro-dysplasiawith immune dysregulation semapv:MappingInversion +MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:closeMatch NANDO:1200685 Paternal uniparental disomy of chromosome 14 semapv:MappingInversion +MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive skos:closeMatch NANDO:2200013 Chronic myeloid leukemia semapv:MappingInversion +MONDO:0011997 Hermansky-Pudlak syndrome 2 skos:closeMatch NANDO:2200733 Hermansky-Pudlak syndrome type 2 semapv:MappingInversion +MONDO:0012084 aromatic L-amino acid decarboxylase deficiency skos:closeMatch NANDO:1200988 Aromatic L-amino acid decarboxylase deficiency semapv:MappingInversion +MONDO:0012084 aromatic L-amino acid decarboxylase deficiency skos:closeMatch NANDO:2200596 Aromatic L-amino acid decarboxylase deficiency semapv:MappingInversion +MONDO:0012104 acquired partial lipodystrophy skos:closeMatch NANDO:1200862 Acquired partial lipodystrophy semapv:MappingInversion +MONDO:0012105 granulomatosis with polyangiitis skos:closeMatch NANDO:1200263 Granulomatosis with polyangiitis semapv:MappingInversion +MONDO:0012105 granulomatosis with polyangiitis skos:closeMatch NANDO:1201009 Systemic granulomatosis with polyangiitis semapv:MappingInversion +MONDO:0012105 granulomatosis with polyangiitis skos:closeMatch NANDO:2200424 Granulomatosis with polyangiitis semapv:MappingInversion +MONDO:0012126 familial avascular necrosis of femoral head skos:closeMatch NANDO:1200373 Idiopathic osteonecrosis of femoral head semapv:MappingInversion +MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form skos:closeMatch NANDO:2201132 Neonatal-onset carnitine palmitoyltransferase II deficiency semapv:MappingInversion +MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 skos:closeMatch NANDO:2200729 UNC13D/Munc13-4 deficiency semapv:MappingInversion +MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation skos:closeMatch NANDO:1200326 CD8 deficiency semapv:MappingInversion +MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation skos:closeMatch NANDO:2200699 CD8 deficiency semapv:MappingInversion +MONDO:0012172 mitochondrial trifunctional protein deficiency skos:closeMatch NANDO:1200974 Trifunctional protein deficiency semapv:MappingInversion +MONDO:0012172 mitochondrial trifunctional protein deficiency skos:closeMatch NANDO:2200515 Trifunctional protein deficiency semapv:MappingInversion +MONDO:0012172 mitochondrial trifunctional protein deficiency skos:closeMatch NANDO:2201147 Presymptomatic trifunctional protein deficiency semapv:MappingInversion +MONDO:0012176 Emanuel syndrome skos:closeMatch NANDO:1200689 Emanuel syndrome semapv:MappingInversion +MONDO:0012184 Pierson syndrome skos:closeMatch NANDO:2200117 Pierson syndrome semapv:MappingInversion +MONDO:0012197 idiopathic aplastic anemia skos:closeMatch NANDO:1200296 Idiopathic aplastic anemia semapv:MappingInversion +MONDO:0012197 idiopathic aplastic anemia skos:closeMatch NANDO:2201276 Idiopathic aplastic anemia semapv:MappingInversion +MONDO:0012198 PCWH syndrome skos:closeMatch NANDO:1200586 Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease semapv:MappingInversion +MONDO:0012198 PCWH syndrome skos:closeMatch NANDO:2201298 Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease semapv:MappingInversion +MONDO:0012206 Czech dysplasia, metatarsal type skos:closeMatch NANDO:2201353 Spondyloepiphyseal dysplasia with metatarsal shortening semapv:MappingInversion +MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 skos:closeMatch NANDO:1200135 Schindler disease type I semapv:MappingInversion +MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:closeMatch NANDO:1200136 Schindler disease type 2 semapv:MappingInversion +MONDO:0012268 AIDS skos:closeMatch NANDO:2100212 Acquired immune deficiency syndrome semapv:MappingInversion +MONDO:0012268 AIDS skos:closeMatch NANDO:2200809 Acquired immune deficiency syndrome semapv:MappingInversion +MONDO:0012295 complement component 5 deficiency skos:closeMatch NANDO:2200783 C5 deficiency semapv:MappingInversion +MONDO:0012316 Majeed syndrome skos:closeMatch NANDO:2200453 Majeed syndrome semapv:MappingInversion +MONDO:0012350 complement factor H deficiency skos:closeMatch NANDO:2200791 Factor H deficiency semapv:MappingInversion +MONDO:0012354 platelet-type bleeding disorder 8 skos:closeMatch NANDO:2200669 ADP receptor deficiencies semapv:MappingInversion +MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:closeMatch NANDO:2200771 MCM4 mutation semapv:MappingInversion +MONDO:0012412 complement component 7 deficiency skos:closeMatch NANDO:2200785 C7 deficiency semapv:MappingInversion +MONDO:0012429 Aicardi-Goutieres syndrome 2 skos:closeMatch NANDO:2200894 Aicardi-Goutieres syndrome 2 semapv:MappingInversion +MONDO:0012444 neurodegeneration with brain iron accumulation 2B skos:closeMatch NANDO:1200538 Neurodegeneration with brain iron accumulation type 2B semapv:MappingInversion +MONDO:0012455 Kleefstra syndrome skos:closeMatch NANDO:1200959 9q34 deletion syndrome semapv:MappingInversion +MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency skos:closeMatch NANDO:1200983 Inherited glycosylphosphatidylinositol deficiency semapv:MappingInversion +MONDO:0012471 Aicardi-Goutieres syndrome 3 skos:closeMatch NANDO:2200895 Aicardi-Goutieres syndrome 3 semapv:MappingInversion +MONDO:0012481 mevalonic aciduria skos:closeMatch NANDO:1200866 Hyper IgD syndrome semapv:MappingInversion +MONDO:0012514 hypomyelinating leukodystrophy 5 skos:closeMatch NANDO:1200584 Hypomyelination and congenital cataract semapv:MappingInversion +MONDO:0012514 hypomyelinating leukodystrophy 5 skos:closeMatch NANDO:2201296 Hypomyelination and congenital cataract semapv:MappingInversion +MONDO:0012521 herpes simplex encephalitis skos:closeMatch NANDO:2200772 Herpes simplex encephalitis semapv:MappingInversion +MONDO:0012559 primary immunodeficiency syndrome due to p14 deficiency skos:closeMatch NANDO:2200752 P14 deficiency semapv:MappingInversion +MONDO:0012579 autoimmune pulmonary alveolar proteinosis skos:closeMatch NANDO:1200747 Autoimmune pulmonary alveolar proteinosis semapv:MappingInversion +MONDO:0012579 autoimmune pulmonary alveolar proteinosis skos:closeMatch NANDO:1200748 Idiopathic pulmonary alveolar proteinosis semapv:MappingInversion +MONDO:0012580 hereditary pulmonary alveolar proteinosis skos:closeMatch NANDO:1200746 Pulmonary alveolar proteinosis semapv:MappingInversion +MONDO:0012580 hereditary pulmonary alveolar proteinosis skos:closeMatch NANDO:1200750 Congenital alveolar proteinosis semapv:MappingInversion +MONDO:0012580 hereditary pulmonary alveolar proteinosis skos:closeMatch NANDO:2200200 Congenital alveolar proteinosis semapv:MappingInversion +MONDO:0012584 systemic lupus erythematosus, susceptibility to, 9 skos:closeMatch NANDO:2200801 CD21 deficiency semapv:MappingInversion +MONDO:0012594 complement factor I deficiency skos:closeMatch NANDO:2200790 Factor I deficiency semapv:MappingInversion +MONDO:0012594 complement factor I deficiency skos:closeMatch NANDO:2200798 Factor I deficiency semapv:MappingInversion +MONDO:0012603 episodic kinesigenic dyskinesia 2 skos:closeMatch NANDO:1200532 Dystonia 19 semapv:MappingInversion +MONDO:0012629 paroxysmal nonkinesigenic dyskinesia 2 skos:closeMatch NANDO:1200533 Dystonia 20 semapv:MappingInversion +MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency skos:closeMatch NANDO:2201152 Glycogen storage disease type 0b semapv:MappingInversion +MONDO:0012724 familial cold autoinflammatory syndrome 2 skos:closeMatch NANDO:2200449 NLRP12-associated periodic syndrome semapv:MappingInversion +MONDO:0012724 familial cold autoinflammatory syndrome 2 skos:closeMatch NANDO:2200454 NLRP12-associated periodic syndrome semapv:MappingInversion +MONDO:0012725 lipoprotein glomerulopathy skos:closeMatch NANDO:2200134 Lipoprotein glomerulopathy semapv:MappingInversion +MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:closeMatch NANDO:1200834 Glycogen storage diseases type XII semapv:MappingInversion +MONDO:0012764 RIDDLE syndrome skos:closeMatch NANDO:1200336 RIDDLE syndrome semapv:MappingInversion +MONDO:0012764 RIDDLE syndrome skos:closeMatch NANDO:2200710 RIDDLE syndrome semapv:MappingInversion +MONDO:0012789 dystonia 16 skos:closeMatch NANDO:1200529 Dystonia 16 semapv:MappingInversion +MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 skos:closeMatch NANDO:1200531 Dystonia 18 semapv:MappingInversion +MONDO:0012817 Ewing sarcoma skos:closeMatch NANDO:2200053 Ewing's sarcoma semapv:MappingInversion +MONDO:0012824 hypomyelinating leukodystrophy 4 skos:closeMatch NANDO:1200581 Mitochondrial Hsp60 chaperonopathy semapv:MappingInversion +MONDO:0012824 hypomyelinating leukodystrophy 4 skos:closeMatch NANDO:2201293 Mitochondrial Hsp60 chaperonopathy semapv:MappingInversion +MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency skos:closeMatch NANDO:1200362 MyD88 deficiency semapv:MappingInversion +MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency skos:closeMatch NANDO:2200763 MyD88 deficiency semapv:MappingInversion +MONDO:0012858 primary CD59 deficiency skos:closeMatch NANDO:2200804 Primary CD59 deficiency semapv:MappingInversion +MONDO:0012866 hereditary spastic paraplegia 35 skos:closeMatch NANDO:1200541 Fatty acid hydroxylase-associated neurodegeneration semapv:MappingInversion +MONDO:0012883 acute promyelocytic leukemia skos:closeMatch NANDO:2200007 Acute promyelocytic leukemia semapv:MappingInversion +MONDO:0012895 torsion dystonia 17 skos:closeMatch NANDO:1200530 Dystonia 17 semapv:MappingInversion +MONDO:0012901 inherited prekallikrein deficiency skos:closeMatch NANDO:2200684 Congenital prekallikrein deficiency semapv:MappingInversion +MONDO:0012905 hypomyelinating leukodystrophy 6 skos:closeMatch NANDO:1200578 Hypomyelination with atrophy of the basal ganglia and cerebellum semapv:MappingInversion +MONDO:0012905 hypomyelinating leukodystrophy 6 skos:closeMatch NANDO:2201290 Hypomyelination with atrophy of the basal ganglia and cerebellum semapv:MappingInversion +MONDO:0012908 complement component 6 deficiency skos:closeMatch NANDO:2200784 C6 deficiency semapv:MappingInversion +MONDO:0012911 pseudohypoparathyroidism type 1C skos:closeMatch NANDO:1201077 Pseudohypoparathyroidism type 1C semapv:MappingInversion +MONDO:0012912 pseudopseudohypoparathyroidism skos:closeMatch NANDO:2200348 Pseudopseudohypoparathyroidism semapv:MappingInversion +MONDO:0012941 inflammatory bowel disease 25 skos:closeMatch NANDO:2200448 IL-10RB deficiency semapv:MappingInversion +MONDO:0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency skos:closeMatch NANDO:1200982 Sepiapterin reductase deficiency semapv:MappingInversion +MONDO:0012996 AGAT deficiency skos:closeMatch NANDO:1201033 Arginine:glycine amidinotransferase deficiency semapv:MappingInversion +MONDO:0012996 AGAT deficiency skos:closeMatch NANDO:2201299 AGAT deficiency semapv:MappingInversion +MONDO:0012999 guanidinoacetate methyltransferase deficiency skos:closeMatch NANDO:1201034 Guanidinoacetate methyltransferase deficiency semapv:MappingInversion +MONDO:0012999 guanidinoacetate methyltransferase deficiency skos:closeMatch NANDO:2201300 GAMT deficiency semapv:MappingInversion +MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis skos:closeMatch NANDO:2200439 Deficiency of the interleukin-1-receptor antagonist semapv:MappingInversion +MONDO:0013024 chronic thromboembolic pulmonary hypertension skos:closeMatch NANDO:1200429 Chronic thromboembolic pulmonary hypertension semapv:MappingInversion +MONDO:0013040 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly skos:closeMatch NANDO:2200803 CD46 deficiency semapv:MappingInversion +MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency skos:closeMatch NANDO:1200835 Glycogen storage diseases type XIII semapv:MappingInversion +MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency skos:closeMatch NANDO:1200833 Glycogen storage diseases type XI semapv:MappingInversion +MONDO:0013059 Aicardi-Goutieres syndrome 5 skos:closeMatch NANDO:2200897 Aicardi-Goutieres syndrome 5 semapv:MappingInversion +MONDO:0013066 46,XY sex reversal 3 skos:closeMatch NANDO:1200405 SF-1 abnormality semapv:MappingInversion +MONDO:0013081 lymphoproliferative syndrome 1 skos:closeMatch NANDO:2200734 IL-2-inducible T-cell kinase deficiency semapv:MappingInversion +MONDO:0013091 glycogen storage disease IXc skos:closeMatch NANDO:1200849 Hepatic glycogen storage disease type IXc semapv:MappingInversion +MONDO:0013091 glycogen storage disease IXc skos:closeMatch NANDO:2201166 Glycogen storage disease type IXc semapv:MappingInversion +MONDO:0013135 familial hemophagocytic lymphohistiocytosis 5 skos:closeMatch NANDO:2200731 STXBP2/Munc18-2 deficiency semapv:MappingInversion +MONDO:0013141 obsolete autosomal dominant macrothrombocytopenia TUBB1-related skos:closeMatch NANDO:2200667 β-1 tubulin disorders semapv:MappingInversion +MONDO:0013153 inflammatory bowel disease 28 skos:closeMatch NANDO:2200447 IL-10RA deficiency semapv:MappingInversion +MONDO:0013166 GABA aminotransaminase deficiency skos:closeMatch NANDO:2200598 Gamma-amino butyrate aminotransferase deficiency semapv:MappingInversion +MONDO:0013171 purine nucleoside phosphorylase deficiency skos:closeMatch NANDO:1200325 Purine nucleoside phosphorylase deficiency semapv:MappingInversion +MONDO:0013171 purine nucleoside phosphorylase deficiency skos:closeMatch NANDO:2200698 Purine nucleoside phosphorylase deficiency semapv:MappingInversion +MONDO:0013178 congenital muscular dystrophy due to LMNA mutation skos:closeMatch NANDO:2200866 LMNA-related congenital muscular dystrophy semapv:MappingInversion +MONDO:0013227 congenital plasminogen activator inhibitor type 1 deficiency skos:closeMatch NANDO:2200688 Congenital plasminogen activator inhibitor-1 deficiency semapv:MappingInversion +MONDO:0013245 syndromic multisystem autoimmune disease due to ITCH deficiency skos:closeMatch NANDO:2200739 Syndromic multisystem autoimmune disease due to Itch deficiency semapv:MappingInversion +MONDO:0013282 alpha 1-antitrypsin deficiency skos:closeMatch NANDO:1200755 Alpha-1-antitrypsin deficiency semapv:MappingInversion +MONDO:0013282 alpha 1-antitrypsin deficiency skos:closeMatch NANDO:2100174 Alpha-1-antitrypsin deficiency semapv:MappingInversion +MONDO:0013282 alpha 1-antitrypsin deficiency skos:closeMatch NANDO:2200611 Alpha-1-antitrypsin deficiency semapv:MappingInversion +MONDO:0013291 glycogen storage disease XV skos:closeMatch NANDO:1200837 Glycogen storage diseases type XV semapv:MappingInversion +MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency skos:closeMatch NANDO:1200402 P450 oxidoreductase deficiency semapv:MappingInversion +MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency skos:closeMatch NANDO:2200375 P450 oxidoreductase deficiency semapv:MappingInversion +MONDO:0013316 occult macular dystrophy skos:closeMatch NANDO:1200934 Occult macular dystrophy semapv:MappingInversion +MONDO:0013343 C1Q deficiency skos:closeMatch NANDO:2200777 C1q deficiency semapv:MappingInversion +MONDO:0013361 congenital prothrombin deficiency skos:closeMatch NANDO:2200673 Hypoprothrombinemia semapv:MappingInversion +MONDO:0013391 sterol carrier protein 2 deficiency skos:closeMatch NANDO:1200767 Sterol carrier protein 2 deficiency semapv:MappingInversion +MONDO:0013408 FADD-related immunodeficiency skos:closeMatch NANDO:2200741 Fas-associated death domain protein deficiency semapv:MappingInversion +MONDO:0013417 complement component 3 deficiency skos:closeMatch NANDO:2200782 C3 deficiency semapv:MappingInversion +MONDO:0013419 complement component C1s deficiency skos:closeMatch NANDO:2200779 C1s deficiency semapv:MappingInversion +MONDO:0013423 immunodeficiency due to MASP-2 deficiency skos:closeMatch NANDO:2200793 MASP2 deficiency semapv:MappingInversion +MONDO:0013433 primary sclerosing cholangitis skos:closeMatch NANDO:1200440 Primary sclerosing cholangitis semapv:MappingInversion +MONDO:0013433 primary sclerosing cholangitis skos:closeMatch NANDO:2100265 Primary sclerosing cholangitis semapv:MappingInversion +MONDO:0013445 complement component 9 deficiency skos:closeMatch NANDO:2200787 C9 deficiency semapv:MappingInversion +MONDO:0013467 immunodeficiency due to ficolin3 deficiency skos:closeMatch NANDO:2200794 Ficolin 3 Deficiency semapv:MappingInversion +MONDO:0013487 recurrent Neisseria infections due to factor D deficiency skos:closeMatch NANDO:2200788 Factor D deficiency semapv:MappingInversion +MONDO:0013507 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 skos:closeMatch NANDO:2201283 p40phox-deficient chronic granulomatous disease semapv:MappingInversion +MONDO:0013571 acatalasia skos:closeMatch NANDO:1200774 Acatalasemia semapv:MappingInversion +MONDO:0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency skos:closeMatch NANDO:2200719 Isolated IgG subclass deficiency semapv:MappingInversion +MONDO:0013594 spinocerebellar ataxia type 36 skos:closeMatch NANDO:1200048 Spinocerebellar ataxia type 36 semapv:MappingInversion +MONDO:0013623 platelet-type bleeding disorder 11 skos:closeMatch NANDO:2200670 Abnormalities in platelet collagen receptors semapv:MappingInversion +MONDO:0013626 psoriasis 14, pustular skos:closeMatch NANDO:1200244 Acrodermatitis continua of Hallopeau semapv:MappingInversion +MONDO:0013626 psoriasis 14, pustular skos:closeMatch NANDO:2200452 IL36RN deficiency semapv:MappingInversion +MONDO:0013674 neurodegeneration with brain iron accumulation 4 skos:closeMatch NANDO:1200540 Neurodegeneration with brain iron accumulation type 4 semapv:MappingInversion +MONDO:0013681 alpha-methylacyl-CoA racemase deficiency skos:closeMatch NANDO:1200768 Alpha-methylacyl-CoA racemase deficiency semapv:MappingInversion +MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch NANDO:2200912 Lipase deficiency semapv:MappingInversion +MONDO:0013766 familial cold autoinflammatory syndrome 3 skos:closeMatch NANDO:2200455 PLCG2-associated antibody deficiency and immune dysregulation semapv:MappingInversion +MONDO:0013851 autosomal dominant aplasia and myelodysplasia skos:closeMatch NANDO:1200301 Borderline between aplastic anemia and MDS semapv:MappingInversion +MONDO:0013862 immunodeficiency, common variable, 7 skos:closeMatch NANDO:2200801 CD21 deficiency semapv:MappingInversion +MONDO:0013869 adenine phosphoribosyltransferase deficiency skos:closeMatch NANDO:2200587 Adenine phosphoribosyltransferase deficiency semapv:MappingInversion +MONDO:0013873 IMAGe syndrome skos:closeMatch NANDO:1200406 IMAge syndrome semapv:MappingInversion +MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation skos:closeMatch NANDO:2200442 Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation semapv:MappingInversion +MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation skos:closeMatch NANDO:2200451 PLCg2 deficiency semapv:MappingInversion +MONDO:0013968 PGM1-congenital disorder of glycosylation skos:closeMatch NANDO:1200836 Glycogen storage diseases type XIV semapv:MappingInversion +MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis skos:closeMatch NANDO:1200726 Primary membranoproliferative glomerulonephritis type I semapv:MappingInversion +MONDO:0014007 Aicardi-Goutieres syndrome 6 skos:closeMatch NANDO:2200898 Aicardi-Goutieres syndrome 6 semapv:MappingInversion +MONDO:0014078 platelet-type bleeding disorder 15 skos:closeMatch NANDO:2200665 ACTN1 mutations semapv:MappingInversion +MONDO:0014252 familial hypobetalipoproteinemia 1 skos:closeMatch NANDO:1201037 Homozygous familial hypobetalipoproteinemia 1 semapv:MappingInversion +MONDO:0014253 obsolete autoimmune lymphoproliferative syndrome type 3 skos:closeMatch NANDO:2200743 PKC-δ deficiency semapv:MappingInversion +MONDO:0014255 complement factor b deficiency skos:closeMatch NANDO:2200797 Factor B deficiency semapv:MappingInversion +MONDO:0014306 vasculitis due to ADA2 deficiency skos:closeMatch NANDO:1200995 Adenosine deaminase 2 deficiency semapv:MappingInversion +MONDO:0014306 vasculitis due to ADA2 deficiency skos:closeMatch NANDO:2200441 Adenosine deaminase 2 deficiency semapv:MappingInversion +MONDO:0014306 vasculitis due to ADA2 deficiency skos:closeMatch NANDO:2200450 Deficiency of the enzyme ADA2 semapv:MappingInversion +MONDO:0014381 cholestasis, progressive familial intrahepatic, 4 skos:closeMatch NANDO:1201046 Progressive familial intrahepatic cholestasis type 4 semapv:MappingInversion +MONDO:0014387 leukoencephalopathy, progressive, with ovarian failure skos:closeMatch NANDO:1200952 Leukoencephalopathy, progressive, with ovarian failure semapv:MappingInversion +MONDO:0014389 polyglucosan body myopathy 1 with or without immunodeficiency skos:closeMatch NANDO:2200766 HOIL-1 deficiency semapv:MappingInversion +MONDO:0014421 glucocorticoid resistance skos:closeMatch NANDO:2200358 Glucocorticoid resistance semapv:MappingInversion +MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome skos:closeMatch NANDO:1200994 NLRC4 mutation semapv:MappingInversion +MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome skos:closeMatch NANDO:2200459 NLRC4 mutation semapv:MappingInversion +MONDO:0014715 primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection skos:closeMatch NANDO:2200770 STAT2 deficiency semapv:MappingInversion +MONDO:0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome skos:closeMatch NANDO:2200985 Takenouchi-Kosaki syndrome semapv:MappingInversion +MONDO:0014884 cholestasis, progressive familial intrahepatic, 5 skos:closeMatch NANDO:1201047 Progressive familial intrahepatic cholestasis type 5 semapv:MappingInversion +MONDO:0014945 myopathy, distal, with rimmed vacuoles skos:closeMatch NANDO:1200218 Distal myopathy with rimmed vacuoles semapv:MappingInversion +MONDO:0015075 thyroid gland carcinoma skos:closeMatch NANDO:2200074 Thyroid cancer semapv:MappingInversion +MONDO:0015104 porphyria cutanea tarda skos:closeMatch NANDO:1200816 Porphyria cutanea tarda semapv:MappingInversion +MONDO:0015104 porphyria cutanea tarda skos:closeMatch NANDO:2201267 Porphyria cutanea tarda semapv:MappingInversion +MONDO:0015129 chronic primary adrenal insufficiency skos:closeMatch NANDO:1200411 Addison's disease semapv:MappingInversion +MONDO:0015129 chronic primary adrenal insufficiency skos:closeMatch NANDO:2200359 Other chronic adrenal insufficiency semapv:MappingInversion +MONDO:0015129 chronic primary adrenal insufficiency skos:closeMatch NANDO:2200360 Addison's disease semapv:MappingInversion +MONDO:0015131 combined immunodeficiency skos:closeMatch NANDO:2100203 Combined immunodeficiency semapv:MappingInversion +MONDO:0015146 classic lissencephaly skos:closeMatch NANDO:1201068 Agyria semapv:MappingInversion +MONDO:0015146 classic lissencephaly skos:closeMatch NANDO:1201069 Pachygyria semapv:MappingInversion +MONDO:0015149 pure hereditary spastic paraplegia skos:closeMatch NANDO:1200053 Pure hereditary spastic paraplegia semapv:MappingInversion +MONDO:0015150 complex hereditary spastic paraplegia skos:closeMatch NANDO:1200054 Complex hereditary spastic paraplegia semapv:MappingInversion +MONDO:0015169 chronic diarrhea due to glucoamylase deficiency skos:closeMatch NANDO:2200911 Amylase deficiency semapv:MappingInversion +MONDO:0015175 autoimmune pancreatitis skos:closeMatch NANDO:1200925 Autoimmune pancreatitis semapv:MappingInversion +MONDO:0015175 autoimmune pancreatitis skos:closeMatch NANDO:2200943 Autoimmune pancreatitis semapv:MappingInversion +MONDO:0015183 short bowel syndrome skos:closeMatch NANDO:2100274 Short bowel syndrome semapv:MappingInversion +MONDO:0015183 short bowel syndrome skos:closeMatch NANDO:2200944 Short bowel syndrome semapv:MappingInversion +MONDO:0015194 sideroblastic anemia skos:closeMatch NANDO:2100179 Sideroblastic anemia semapv:MappingInversion +MONDO:0015194 sideroblastic anemia skos:closeMatch NANDO:2200616 Sideroblastic anemia semapv:MappingInversion +MONDO:0015197 aneurysm of sinus of Valsalva skos:closeMatch NANDO:2200293 Aneurysm of sinus valsalva semapv:MappingInversion +MONDO:0015229 Bardet-Biedl syndrome skos:closeMatch NANDO:2200414 Bardet-Biedl syndrome semapv:MappingInversion +MONDO:0015231 Bartter syndrome skos:closeMatch NANDO:2100021 Bartter syndrome semapv:MappingInversion +MONDO:0015231 Bartter syndrome skos:closeMatch NANDO:2200146 Bartter syndrome semapv:MappingInversion +MONDO:0015253 Diamond-Blackfan anemia skos:closeMatch NANDO:1200890 Diamond-Blackfan anemia semapv:MappingInversion +MONDO:0015253 Diamond-Blackfan anemia skos:closeMatch NANDO:2200614 Congenital red cell aplasia semapv:MappingInversion +MONDO:0015264 cryptogenic organizing pneumonia skos:closeMatch NANDO:1200421 Cryptogenic organizing pneumonia semapv:MappingInversion +MONDO:0015265 bronchiolitis obliterans syndrome skos:closeMatch NANDO:1200745 Bronchiolitis obliterans semapv:MappingInversion +MONDO:0015265 bronchiolitis obliterans syndrome skos:closeMatch NANDO:2100039 Bronchiolitis obliterans semapv:MappingInversion +MONDO:0015265 bronchiolitis obliterans syndrome skos:closeMatch NANDO:2200209 Bronchiolitis obliterans semapv:MappingInversion +MONDO:0015268 medullary sponge kidney skos:closeMatch NANDO:2200173 Medullary sponge kidney semapv:MappingInversion +MONDO:0015273 complete atrioventricular canal skos:closeMatch NANDO:2100086 Complete atrioventricular septal defect semapv:MappingInversion +MONDO:0015273 complete atrioventricular canal skos:closeMatch NANDO:2200269 Complete atrioventricular septal defect semapv:MappingInversion +MONDO:0015275 partial atrioventricular canal skos:closeMatch NANDO:2200268 Incomplete atrioventricular septal defect semapv:MappingInversion +MONDO:0015277 medullary thyroid gland carcinoma skos:closeMatch NANDO:2201054 Medullary thyroid carcinoma semapv:MappingInversion +MONDO:0015279 chronic mucocutaneous candidiasis skos:closeMatch NANDO:1200363 Chronic mucocutaneous candidiasis semapv:MappingInversion +MONDO:0015279 chronic mucocutaneous candidiasis skos:closeMatch NANDO:2200764 Chronic mucocutaneous candidiasis semapv:MappingInversion +MONDO:0015280 cardiofaciocutaneous syndrome skos:closeMatch NANDO:1200462 CFC Syndrome semapv:MappingInversion +MONDO:0015280 cardiofaciocutaneous syndrome skos:closeMatch NANDO:2200967 CFC Syndrome semapv:MappingInversion +MONDO:0015285 Carney complex skos:closeMatch NANDO:1200756 Carney complex semapv:MappingInversion +MONDO:0015333 progeroid syndrome skos:closeMatch NANDO:2100221 Progeroid syndromes semapv:MappingInversion +MONDO:0015337 isolated craniosynostosis skos:closeMatch NANDO:2200843 Non-syndromic craniosynostosis semapv:MappingInversion +MONDO:0015339 adrenomyeloneuropathy skos:closeMatch NANDO:1200168 Adrenomyeloneuropathy semapv:MappingInversion +MONDO:0015339 adrenomyeloneuropathy skos:closeMatch NANDO:2201248 Adrenomyeloneuropathy semapv:MappingInversion +MONDO:0015358 hereditary motor and sensory neuropathy skos:closeMatch NANDO:2200855 Hereditary Motor and Sensory Neuropathy semapv:MappingInversion +MONDO:0015369 Joubert syndrome and related disorders skos:closeMatch NANDO:1200661 Joubert syndrome and related disorders semapv:MappingInversion +MONDO:0015369 Joubert syndrome and related disorders skos:closeMatch NANDO:2100218 Joubert syndrome related disorders semapv:MappingInversion +MONDO:0015369 Joubert syndrome and related disorders skos:closeMatch NANDO:2200824 Joubert syndrome related disorders semapv:MappingInversion +MONDO:0015375 orofaciodigital syndrome skos:closeMatch NANDO:1201051 Oral-facial-digital syndrome semapv:MappingInversion +MONDO:0015395 congenital subglottic stenosis skos:closeMatch NANDO:1201004 Congenital subglottic stenosis semapv:MappingInversion +MONDO:0015395 congenital subglottic stenosis skos:closeMatch NANDO:2200190 Laryngeal stenosis semapv:MappingInversion +MONDO:0015408 diffuse lymphatic malformation skos:closeMatch NANDO:1200879 obsolete Lymphangiomatosis semapv:MappingInversion +MONDO:0015408 diffuse lymphatic malformation skos:closeMatch NANDO:2201033 Lymphangiomatosis semapv:MappingInversion +MONDO:0015436 ring chromosome 20 skos:closeMatch NANDO:1200597 Ring chromosome 20 syndrome semapv:MappingInversion +MONDO:0015446 atypical coarctation of aorta skos:closeMatch NANDO:2200284 Coarctation complex semapv:MappingInversion +MONDO:0015450 triatrial heart skos:closeMatch NANDO:2100083 Cor triatriatum semapv:MappingInversion +MONDO:0015450 triatrial heart skos:closeMatch NANDO:2200263 Cor triatriatum semapv:MappingInversion +MONDO:0015451 univentricular heart skos:closeMatch NANDO:1200704 Single ventricle semapv:MappingInversion +MONDO:0015451 univentricular heart skos:closeMatch NANDO:2200250 Single ventricle semapv:MappingInversion +MONDO:0015452 Coffin-Siris syndrome skos:closeMatch NANDO:1200670 Coffin-Siris syndrome semapv:MappingInversion +MONDO:0015452 Coffin-Siris syndrome skos:closeMatch NANDO:2200977 Coffin-Siris syndrome semapv:MappingInversion +MONDO:0015454 multiple carboxylase deficiency skos:closeMatch NANDO:1200820 Multiple carboxylase deficiency semapv:MappingInversion +MONDO:0015454 multiple carboxylase deficiency skos:closeMatch NANDO:2200500 Multiple carboxylase deficiency semapv:MappingInversion +MONDO:0015465 craniometaphyseal dysplasia skos:closeMatch NANDO:2201366 Craniometaphyseal dysplasia semapv:MappingInversion +MONDO:0015469 craniosynostosis skos:closeMatch NANDO:2100227 Craniosynostosis semapv:MappingInversion +MONDO:0015515 carnitine palmitoyltransferase II deficiency skos:closeMatch NANDO:1200971 Carnitine palmitoyltransferase II deficiency semapv:MappingInversion +MONDO:0015515 carnitine palmitoyltransferase II deficiency skos:closeMatch NANDO:2200510 Carnitine palmitoyltransferase II deficiency semapv:MappingInversion +MONDO:0015515 carnitine palmitoyltransferase II deficiency skos:closeMatch NANDO:2201133 Infantile-onset carnitine palmitoyl transferase II deficiency semapv:MappingInversion +MONDO:0015515 carnitine palmitoyltransferase II deficiency skos:closeMatch NANDO:2201134 Late-onset carnitine palmitoyltransferase II deficiency semapv:MappingInversion +MONDO:0015517 common variable immunodeficiency skos:closeMatch NANDO:1200344 Common variable immunodeficiency semapv:MappingInversion +MONDO:0015517 common variable immunodeficiency skos:closeMatch NANDO:2200717 Common variable immunodeficiency semapv:MappingInversion +MONDO:0015518 infantile bilateral striatal necrosis skos:closeMatch NANDO:2100242 Infantile bilateral striatal necrosis semapv:MappingInversion +MONDO:0015518 infantile bilateral striatal necrosis skos:closeMatch NANDO:2200888 Infantile bilateral striatal necrosis semapv:MappingInversion +MONDO:0015534 juvenile xanthogranuloma skos:closeMatch NANDO:2200037 Juvenile xanthogranuloma semapv:MappingInversion +MONDO:0015540 hemophagocytic syndrome skos:closeMatch NANDO:2200032 Hemophagocytic lymphohistiocytosis semapv:MappingInversion +MONDO:0015584 febrile infection-related epilepsy syndrome skos:closeMatch NANDO:1200600 Acute encephalitis with refractory, repetitive partial seizures semapv:MappingInversion +MONDO:0015584 febrile infection-related epilepsy syndrome skos:closeMatch NANDO:2100249 Acute encephalitis with refractory, repetitive partial seizures semapv:MappingInversion +MONDO:0015584 febrile infection-related epilepsy syndrome skos:closeMatch NANDO:2200903 Acute encephalitis with refractory, repetitive partial seizures semapv:MappingInversion +MONDO:0015610 acquired aplastic anemia skos:closeMatch NANDO:2201277 Secondary aplastic anemia semapv:MappingInversion +MONDO:0015611 neutral lipid storage disease skos:closeMatch NANDO:1200622 Dorfman-Chanarin syndrome semapv:MappingInversion +MONDO:0015611 neutral lipid storage disease skos:closeMatch NANDO:2200997 Dorfman-Chanarin syndrome semapv:MappingInversion +MONDO:0015626 Charcot-Marie-Tooth disease skos:closeMatch NANDO:1200016 Charcot-Marie-Tooth disease semapv:MappingInversion +MONDO:0015626 Charcot-Marie-Tooth disease skos:closeMatch NANDO:2200855 Hereditary Motor and Sensory Neuropathy semapv:MappingInversion +MONDO:0015627 multiple epiphyseal dysplasia due to collagen 9 anomaly skos:closeMatch NANDO:2201016 Type II collagenopathy semapv:MappingInversion +MONDO:0015674 late infantile neuronal ceroid lipofuscinosis skos:closeMatch NANDO:1200153 Late infantile neuronal ceroid lipofuscinosis semapv:MappingInversion +MONDO:0015674 late infantile neuronal ceroid lipofuscinosis skos:closeMatch NANDO:2201242 Late infantile neuronal ceroid lipofuscinosis semapv:MappingInversion +MONDO:0015677 cardiac diverticulum skos:closeMatch NANDO:2200234 Aneurysm of ventricle semapv:MappingInversion +MONDO:0015691 hypereosinophilic syndrome skos:closeMatch NANDO:2200805 Hyper eosinophilic syndrome semapv:MappingInversion +MONDO:0015691 hypereosinophilic syndrome skos:closeMatch NANDO:2200806 Hypereosinophilic syndrome semapv:MappingInversion +MONDO:0015698 transient hypogammaglobulinemia of infancy skos:closeMatch NANDO:1200349 Transient hypogammaglobulinemia of infancy with normal numbers of B cells semapv:MappingInversion +MONDO:0015698 transient hypogammaglobulinemia of infancy skos:closeMatch NANDO:2200722 Transient hypogammaglobulinemia of infancy with normal numbers of B cells semapv:MappingInversion +MONDO:0015711 obsolete specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells skos:closeMatch NANDO:1200348 Specific antibody deficiency with normal Ig concentrations and normal numbers of B cells semapv:MappingInversion +MONDO:0015711 obsolete specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells skos:closeMatch NANDO:2200721 Specific antibody deficiency with normal Ig concentrations and normal numbers of B cells semapv:MappingInversion +MONDO:0015759 B-cell non-Hodgkin lymphoma skos:closeMatch NANDO:2200020 Mature B-cell lymphoma semapv:MappingInversion +MONDO:0015762 progressive familial intrahepatic cholestasis skos:closeMatch NANDO:1201042 Progressive familial intrahepatic cholestasis semapv:MappingInversion +MONDO:0015762 progressive familial intrahepatic cholestasis skos:closeMatch NANDO:2200933 Progressive familial intrahepatic cholestasis semapv:MappingInversion +MONDO:0015770 congenital hypogonadotropic hypogonadism skos:closeMatch NANDO:1200383 Congenital hypogonadotropic hypogonadism semapv:MappingInversion +MONDO:0015779 45,X/46,XY mixed gonadal dysgenesis skos:closeMatch NANDO:2200388 Mixed gonadal dysgenesis semapv:MappingInversion +MONDO:0015780 dyskeratosis congenita skos:closeMatch NANDO:1200304 Dyskeratosis congenita semapv:MappingInversion +MONDO:0015780 dyskeratosis congenita skos:closeMatch NANDO:1200342 Dyskeratosis congenita semapv:MappingInversion +MONDO:0015780 dyskeratosis congenita skos:closeMatch NANDO:2200715 Dyskeratosis congenita semapv:MappingInversion +MONDO:0015790 central diabetes insipidus skos:closeMatch NANDO:1200375 Central diabetes insipidus semapv:MappingInversion +MONDO:0015790 central diabetes insipidus skos:closeMatch NANDO:2200324 Central diabetes insipidus semapv:MappingInversion +MONDO:0015791 peripheral precocious puberty skos:closeMatch NANDO:2200378 Non-gonadotropin-dependent precocious puberty semapv:MappingInversion +MONDO:0015863 polyembryoma skos:closeMatch NANDO:2200068 Polyembryoma semapv:MappingInversion +MONDO:0015864 mixed germ cell tumor skos:closeMatch NANDO:2200071 Mixed germ cell tumour semapv:MappingInversion +MONDO:0015892 growth hormone insensitivity syndrome skos:closeMatch NANDO:2100114 Growth hormone insensitivity semapv:MappingInversion +MONDO:0015892 growth hormone insensitivity syndrome skos:closeMatch NANDO:2200321 Growth hormone insensitivity semapv:MappingInversion +MONDO:0015895 obsolete syndrome with hypoparathyroidism skos:closeMatch NANDO:1200775 Hypoparathyroidism semapv:MappingInversion +MONDO:0015895 obsolete syndrome with hypoparathyroidism skos:closeMatch NANDO:2100124 Hypoparathyroidism semapv:MappingInversion +MONDO:0015895 obsolete syndrome with hypoparathyroidism skos:closeMatch NANDO:2200345 Hypoparathyroidism semapv:MappingInversion +MONDO:0015900 hypoaldosteronism disease skos:closeMatch NANDO:2100132 Hypoaldosteronism semapv:MappingInversion +MONDO:0015909 aplastic anemia skos:closeMatch NANDO:1200295 Aplastic anemia semapv:MappingInversion +MONDO:0015909 aplastic anemia skos:closeMatch NANDO:1200301 Borderline between aplastic anemia and MDS semapv:MappingInversion +MONDO:0015909 aplastic anemia skos:closeMatch NANDO:2100201 Aplastic anemia semapv:MappingInversion +MONDO:0015909 aplastic anemia skos:closeMatch NANDO:2200693 Aplastic anemia semapv:MappingInversion +MONDO:0015924 pulmonary arterial hypertension skos:closeMatch NANDO:1200425 Pulmonary arterial hypertension semapv:MappingInversion +MONDO:0015924 pulmonary arterial hypertension skos:closeMatch NANDO:2100103 Pulmonary arterial hypertension semapv:MappingInversion +MONDO:0015924 pulmonary arterial hypertension skos:closeMatch NANDO:2200298 Pulmonary arterial hypertension semapv:MappingInversion +MONDO:0015929 thoracic malformation skos:closeMatch NANDO:2201008 Thoracic insufficiency syndrome semapv:MappingInversion +MONDO:0015943 eosinophilic granulomatosis with polyangiitis skos:closeMatch NANDO:1200264 Eosinophilic granulomatosis with polyangiitis semapv:MappingInversion +MONDO:0015943 eosinophilic granulomatosis with polyangiitis skos:closeMatch NANDO:2200427 Eosinophilic granulomatosis with polyangiitis semapv:MappingInversion +MONDO:0015947 inherited ichthyosis skos:closeMatch NANDO:1200609 Congenital ichthyosis semapv:MappingInversion +MONDO:0015947 inherited ichthyosis skos:closeMatch NANDO:2100283 Congenital ichthyosis semapv:MappingInversion +MONDO:0015988 multicystic dysplastic kidney skos:closeMatch NANDO:2200158 Multicystic dysplastic kidney semapv:MappingInversion +MONDO:0015993 cone-rod dystrophy skos:closeMatch NANDO:1200937 Cone-rod dystrophy semapv:MappingInversion +MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:closeMatch NANDO:1200649 Ehlers-Danlos syndrome, kyphoscoliotic type semapv:MappingInversion +MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:closeMatch NANDO:2201259 Ehlers-Danlos syndrome, kyphoscoliotic type semapv:MappingInversion +MONDO:0016006 Cockayne syndrome skos:closeMatch NANDO:1200677 Cockayne syndrome semapv:MappingInversion +MONDO:0016006 Cockayne syndrome skos:closeMatch NANDO:2200832 Cockayne syndrome semapv:MappingInversion +MONDO:0016019 Rasmussen subacute encephalitis skos:closeMatch NANDO:1200598 Rasmussen's encephalitis semapv:MappingInversion +MONDO:0016019 Rasmussen subacute encephalitis skos:closeMatch NANDO:2100246 Rasmussen's encephalitis semapv:MappingInversion +MONDO:0016019 Rasmussen subacute encephalitis skos:closeMatch NANDO:2200900 Rasmussen's encephalitis semapv:MappingInversion +MONDO:0016022 early myoclonic encephalopathy skos:closeMatch NANDO:1200594 Early myoclonic encephalopathy semapv:MappingInversion +MONDO:0016025 myoclonic-astatic epilepsy skos:closeMatch NANDO:1200590 Epilepsy with myoclonic atonic seizures semapv:MappingInversion +MONDO:0016030 Evans syndrome skos:closeMatch NANDO:1200310 Evans syndrome semapv:MappingInversion +MONDO:0016033 Cornelia de Lange syndrome skos:closeMatch NANDO:1200960 Cornelia de lange syndrome semapv:MappingInversion +MONDO:0016033 Cornelia de Lange syndrome skos:closeMatch NANDO:2200958 Cornelia de Lange syndrome semapv:MappingInversion +MONDO:0016054 cerebral malformation skos:closeMatch NANDO:2100217 Brain malformation semapv:MappingInversion +MONDO:0016063 Cowden disease skos:closeMatch NANDO:2200918 Cowden syndrome semapv:MappingInversion +MONDO:0016068 fibrochondrogenesis skos:closeMatch NANDO:2201016 Type II collagenopathy semapv:MappingInversion +MONDO:0016079 sporadic Creutzfeldt-Jakob disease skos:closeMatch NANDO:1200187 Sporadic Creutzfeldt-Jakob disease semapv:MappingInversion +MONDO:0016081 coronary arterial fistulas skos:closeMatch NANDO:2200296 Coronary artery fistula semapv:MappingInversion +MONDO:0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency skos:closeMatch NANDO:2200586 Lesch-Nyhan syndrome semapv:MappingInversion +MONDO:0016089 infantile Krabbe disease skos:closeMatch NANDO:1200075 Infantile Krabbe disease semapv:MappingInversion +MONDO:0016089 infantile Krabbe disease skos:closeMatch NANDO:2201216 Infantile Krabbe disease semapv:MappingInversion +MONDO:0016091 adult Krabbe disease skos:closeMatch NANDO:1200077 Adult Krabbe disease semapv:MappingInversion +MONDO:0016091 adult Krabbe disease skos:closeMatch NANDO:2201219 Adult Krabbe disease semapv:MappingInversion +MONDO:0016107 myotonic dystrophy skos:closeMatch NANDO:1200495 Myotonic dystrophy semapv:MappingInversion +MONDO:0016107 myotonic dystrophy skos:closeMatch NANDO:2200864 Myotonic dystrophy semapv:MappingInversion +MONDO:0016110 obsolete non-dystrophic myopathy skos:closeMatch NANDO:1200496 Non-dystrophic myotonia semapv:MappingInversion +MONDO:0016113 bulbospinal muscular atrophy skos:closeMatch NANDO:1200001 Spinal and bulbar muscular atrophy semapv:MappingInversion +MONDO:0016118 obsolete muscular glycogenosis skos:closeMatch NANDO:1200823 Muscle glycogen storage disease semapv:MappingInversion +MONDO:0016129 eosinophilic gastroenteritis skos:closeMatch NANDO:1200457 Eosinophilic gastroenteritis semapv:MappingInversion +MONDO:0016147 qualitative or quantitative defects of dystrophin skos:closeMatch NANDO:1200487 Dystrophinopathies semapv:MappingInversion +MONDO:0016168 cryopyrin-associated periodic syndrome skos:closeMatch NANDO:1200465 Cryopyrin-associated periodic syndrome semapv:MappingInversion +MONDO:0016168 cryopyrin-associated periodic syndrome skos:closeMatch NANDO:2200432 Cryopyrin-associated periodic syndrome semapv:MappingInversion +MONDO:0016233 obsolete rare lymphatic system malformation skos:closeMatch NANDO:1200881 Giant lymphatic malformation (cervicofacial lesion) semapv:MappingInversion +MONDO:0016239 cystinosis skos:closeMatch NANDO:1200161 Cystinosis semapv:MappingInversion +MONDO:0016239 cystinosis skos:closeMatch NANDO:2200571 Cystinosis semapv:MappingInversion +MONDO:0016241 alternating hemiplegia of childhood skos:closeMatch NANDO:1200403 Congenital adrenal hypoplasia semapv:MappingInversion +MONDO:0016241 alternating hemiplegia of childhood skos:closeMatch NANDO:1200525 Alternating hemiplegia of childhood semapv:MappingInversion +MONDO:0016241 alternating hemiplegia of childhood skos:closeMatch NANDO:2100239 Alternating hemiplegia of childhood semapv:MappingInversion +MONDO:0016241 alternating hemiplegia of childhood skos:closeMatch NANDO:2200357 Congenital adrenal hypoplasia semapv:MappingInversion +MONDO:0016241 alternating hemiplegia of childhood skos:closeMatch NANDO:2200883 Alternating hemiplegia of childhood semapv:MappingInversion +MONDO:0016242 hemoglobin C disease skos:closeMatch NANDO:2200635 Hemoglobin C disease semapv:MappingInversion +MONDO:0016244 atypical hemolytic-uremic syndrome skos:closeMatch NANDO:1200473 Atypical hemolytic uremic syndrome semapv:MappingInversion +MONDO:0016244 atypical hemolytic-uremic syndrome skos:closeMatch NANDO:1200474 Congenital atypical hemolytic uremic syndrome semapv:MappingInversion +MONDO:0016244 atypical hemolytic-uremic syndrome skos:closeMatch NANDO:2200131 Atypical hemolytic uremic syndrome semapv:MappingInversion +MONDO:0016244 atypical hemolytic-uremic syndrome skos:closeMatch NANDO:2200641 Atypical hemolytic uremic syndrome semapv:MappingInversion +MONDO:0016264 autoimmune hepatitis skos:closeMatch NANDO:1200441 Autoimmune hepatitis semapv:MappingInversion +MONDO:0016264 autoimmune hepatitis skos:closeMatch NANDO:1200442 Typical autoimmune hepatitis semapv:MappingInversion +MONDO:0016264 autoimmune hepatitis skos:closeMatch NANDO:2100264 Autoimmune hepatitis semapv:MappingInversion +MONDO:0016281 46,XX ovotesticular disorder of sex development skos:closeMatch NANDO:2200387 Ovotesticular dsd semapv:MappingInversion +MONDO:0016295 neuronal ceroid lipofuscinosis skos:closeMatch NANDO:1200150 Neuronal ceroid-lipofuscinosis semapv:MappingInversion +MONDO:0016295 neuronal ceroid lipofuscinosis skos:closeMatch NANDO:2200573 Neuronal ceroid lipofuscinoses semapv:MappingInversion +MONDO:0016296 holoprosencephaly skos:closeMatch NANDO:2200819 Holoprosencephaly semapv:MappingInversion +MONDO:0016301 congenitally corrected transposition of the great arteries skos:closeMatch NANDO:1200699 Complete transposition of the great arteries semapv:MappingInversion +MONDO:0016301 congenitally corrected transposition of the great arteries skos:closeMatch NANDO:1200701 Complete transposition of the great arteries (Group2) semapv:MappingInversion +MONDO:0016301 congenitally corrected transposition of the great arteries skos:closeMatch NANDO:1200703 Complete transposition of the great arteries (Group4) semapv:MappingInversion +MONDO:0016301 congenitally corrected transposition of the great arteries skos:closeMatch NANDO:2100079 Congenitally corrected transposition of the great arteries semapv:MappingInversion +MONDO:0016301 congenitally corrected transposition of the great arteries skos:closeMatch NANDO:2200259 Congenitally corrected transposition of the great arteries semapv:MappingInversion +MONDO:0016303 congenitally uncorrected transposition of the great arteries with cardiac malformation skos:closeMatch NANDO:1200701 Complete transposition of the great arteries (Group2) semapv:MappingInversion +MONDO:0016304 classic pantothenate kinase-associated neurodegeneration skos:closeMatch NANDO:1200535 Classic pantothenate kinase-associated neurodegeneration semapv:MappingInversion +MONDO:0016305 atypical pantothenate kinase-associated neurodegeneration skos:closeMatch NANDO:1200536 Atypical pantothenate kinase-associated neurodegeneration semapv:MappingInversion +MONDO:0016310 Niemann-Pick disease type C, adult neurologic onset skos:closeMatch NANDO:1200065 Adult-onset Niemann-Pick disease type C semapv:MappingInversion +MONDO:0016310 Niemann-Pick disease type C, adult neurologic onset skos:closeMatch NANDO:2201209 Adult-onset Niemann-Pick disease type C semapv:MappingInversion +MONDO:0016315 mucopolysaccharidosis type 2, severe form skos:closeMatch NANDO:1200098 Hunter syndrome type A semapv:MappingInversion +MONDO:0016315 mucopolysaccharidosis type 2, severe form skos:closeMatch NANDO:2201173 Mucopolysaccharidosis type II, severe form semapv:MappingInversion +MONDO:0016316 mucopolysaccharidosis type 2, attenuated form skos:closeMatch NANDO:1200099 Hunter syndrome type B semapv:MappingInversion +MONDO:0016316 mucopolysaccharidosis type 2, attenuated form skos:closeMatch NANDO:2201171 Mucopolysaccharidosis type II, attenuated form semapv:MappingInversion +MONDO:0016316 mucopolysaccharidosis type 2, attenuated form skos:closeMatch NANDO:2201172 Mucopolysaccharidosis type II, intermediate form semapv:MappingInversion +MONDO:0016318 progressive multifocal leukoencephalopathy skos:closeMatch NANDO:1200205 Progressive multifocal leukoencephalopathy semapv:MappingInversion +MONDO:0016345 non-familial restrictive cardiomyopathy skos:closeMatch NANDO:1200294 Secondary restrictive cardiomyopathy semapv:MappingInversion +MONDO:0016349 congenital hydrocephalus skos:closeMatch NANDO:2200822 Congenital hydrocephalus semapv:MappingInversion +MONDO:0016356 diffuse cutaneous systemic sclerosis skos:closeMatch NANDO:1201010 Diffuse cutaneous systemic sclerosis semapv:MappingInversion +MONDO:0016358 limited cutaneous systemic sclerosis skos:closeMatch NANDO:1201011 Limited cutaneous systemic sclerosis semapv:MappingInversion +MONDO:0016367 dermatomyositis skos:closeMatch NANDO:1200274 Dermatomyositis semapv:MappingInversion +MONDO:0016383 nephrogenic diabetes insipidus skos:closeMatch NANDO:1200742 Congenital nephrogenic diabetes insipidus semapv:MappingInversion +MONDO:0016383 nephrogenic diabetes insipidus skos:closeMatch NANDO:2200326 Nephrogenic diabetes insipidus semapv:MappingInversion +MONDO:0016391 neonatal diabetes mellitus skos:closeMatch NANDO:2200463 Neonatal diabetes mellitus semapv:MappingInversion +MONDO:0016407 oligomeganephronia skos:closeMatch NANDO:2200159 Oligomeganephronia semapv:MappingInversion +MONDO:0016410 central congenital hypothyroidism skos:closeMatch NANDO:1200390 Thyroid-stimulating hormone deficiency semapv:MappingInversion +MONDO:0016410 central congenital hypothyroidism skos:closeMatch NANDO:2200332 Thyroid-stimulating hormone deficiency semapv:MappingInversion +MONDO:0016410 central congenital hypothyroidism skos:closeMatch NANDO:2200340 Central hypothyroidism semapv:MappingInversion +MONDO:0016418 multiple system atrophy, cerebellar type skos:closeMatch NANDO:1200035 Multiple system atrophy, cerebellar type semapv:MappingInversion +MONDO:0016430 Balo concentric sclerosis skos:closeMatch NANDO:1200028 Baló concentric sclerosis semapv:MappingInversion +MONDO:0016484 Usher syndrome type 2 skos:closeMatch NANDO:1200943 Usher syndrome Type II semapv:MappingInversion +MONDO:0016485 Usher syndrome type 3 skos:closeMatch NANDO:1200944 Usher syndrome Type III semapv:MappingInversion +MONDO:0016512 Kabuki syndrome skos:closeMatch NANDO:1200672 Kabuki syndrome semapv:MappingInversion +MONDO:0016512 Kabuki syndrome skos:closeMatch NANDO:2200956 Kabuki syndrome semapv:MappingInversion +MONDO:0016525 familial hyperaldosteronism skos:closeMatch NANDO:2200602 Familial hypercholesterolemia semapv:MappingInversion +MONDO:0016532 Lennox-Gastaut syndrome skos:closeMatch NANDO:1200591 Lennox-Gastaut syndrome semapv:MappingInversion +MONDO:0016532 Lennox-Gastaut syndrome skos:closeMatch NANDO:2200879 Lennox-Gastaut syndrome semapv:MappingInversion +MONDO:0016535 hypohidrotic ectodermal dysplasia skos:closeMatch NANDO:2201005 Anhidrotic ectodermal dysplasia semapv:MappingInversion +MONDO:0016536 autosomal recessive lymphoproliferative disease skos:closeMatch NANDO:2200735 CD27 deficiency semapv:MappingInversion +MONDO:0016542 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome skos:closeMatch NANDO:2200446 IL10 deficiency semapv:MappingInversion +MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency skos:closeMatch NANDO:1200786 Tetrahydrobiopterin deficiency semapv:MappingInversion +MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency skos:closeMatch NANDO:2200594 Tetrahydrobiopterin deficiency semapv:MappingInversion +MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency skos:closeMatch NANDO:2201076 BH4 deficiency semapv:MappingInversion +MONDO:0016575 primary ciliary dyskinesia skos:closeMatch NANDO:2100034 Primary ciliary dyskinesia semapv:MappingInversion +MONDO:0016575 primary ciliary dyskinesia skos:closeMatch NANDO:2200203 Primary ciliary dyskinesia semapv:MappingInversion +MONDO:0016575 primary ciliary dyskinesia skos:closeMatch NANDO:2200204 Kartagener syndrome semapv:MappingInversion +MONDO:0016581 conotruncal heart malformations skos:closeMatch NANDO:2200275 Double-chambered right ventricle semapv:MappingInversion +MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy skos:closeMatch NANDO:2100055 Arrhythmogenic right ventricular cardiomyopathy or dysplasia semapv:MappingInversion +MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy skos:closeMatch NANDO:2200230 Arrhythmogenic right ventricular cardiomyopathy or dysplasia semapv:MappingInversion +MONDO:0016594 superficial siderosis skos:closeMatch NANDO:1200543 Superficial siderosis semapv:MappingInversion +MONDO:0016597 obsolete generalized pustular psoriasis skos:closeMatch NANDO:1200240 Pustular psoriasis semapv:MappingInversion +MONDO:0016600 acute neonatal citrullinemia type I skos:closeMatch NANDO:2201094 Neonatal-onset argininosuccinate synthetase deficiency semapv:MappingInversion +MONDO:0016601 adult-onset citrullinemia type I skos:closeMatch NANDO:2201095 Late-onset argininosuccinate synthetase deficiency semapv:MappingInversion +MONDO:0016602 citrin deficiency skos:closeMatch NANDO:1200978 Citrin deficiency semapv:MappingInversion +MONDO:0016602 citrin deficiency skos:closeMatch NANDO:2200483 Citrin deficiency semapv:MappingInversion +MONDO:0016603 citrullinemia type II skos:closeMatch NANDO:1200980 Adult-onset type II citrullinemia semapv:MappingInversion +MONDO:0016620 primary hypertrophic osteoarthropathy skos:closeMatch NANDO:1200642 Pachydermoperiostosis semapv:MappingInversion +MONDO:0016620 primary hypertrophic osteoarthropathy skos:closeMatch NANDO:2100288 Pachydermoperiostosis semapv:MappingInversion +MONDO:0016620 primary hypertrophic osteoarthropathy skos:closeMatch NANDO:2201004 Pachydermoperiostosis semapv:MappingInversion +MONDO:0016642 meningioma skos:closeMatch NANDO:2200094 Meningioma semapv:MappingInversion +MONDO:0016684 anaplastic astrocytoma skos:closeMatch NANDO:2200086 Anaplastic astrocytoma semapv:MappingInversion +MONDO:0016686 diffuse astrocytoma skos:closeMatch NANDO:2200085 Diffuse astrocytoma semapv:MappingInversion +MONDO:0016691 pilocytic astrocytoma skos:closeMatch NANDO:2200084 Pilocytic astrocytoma semapv:MappingInversion +MONDO:0016695 oligodendroglioma skos:closeMatch NANDO:2200089 Oligodendroglioma semapv:MappingInversion +MONDO:0016698 ependymoma skos:closeMatch NANDO:2200088 Ependymoma semapv:MappingInversion +MONDO:0016723 pineocytoma skos:closeMatch NANDO:2200092 Pineocytoma semapv:MappingInversion +MONDO:0016730 gangliocytoma skos:closeMatch NANDO:2200097 Gangliocytoma semapv:MappingInversion +MONDO:0016733 ganglioglioma skos:closeMatch NANDO:2200096 Ganglioglioma semapv:MappingInversion +MONDO:0016793 obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA skos:closeMatch NANDO:2200524 Diseases due to mitochondrial DNA mutation semapv:MappingInversion +MONDO:0016812 dopa-responsive dystonia skos:closeMatch NANDO:1200516 Dystonia 5 semapv:MappingInversion +MONDO:0016812 dopa-responsive dystonia skos:closeMatch NANDO:2200885 Segawa syndrome semapv:MappingInversion +MONDO:0016820 Moyamoya disease skos:closeMatch NANDO:1200183 Moyamoya disease semapv:MappingInversion +MONDO:0016820 Moyamoya disease skos:closeMatch NANDO:2100228 Moyamoya disease semapv:MappingInversion +MONDO:0016820 Moyamoya disease skos:closeMatch NANDO:2200850 Moyamoya disease semapv:MappingInversion +MONDO:0016830 Emery-Dreifuss muscular dystrophy skos:closeMatch NANDO:1200492 Emery-Dreifuss muscular dystrophy semapv:MappingInversion +MONDO:0016830 Emery-Dreifuss muscular dystrophy skos:closeMatch NANDO:2200857 Emery-Dreifuss muscular dystrophy semapv:MappingInversion +MONDO:0016952 partial duplication of the long arm of chromosome 1 skos:closeMatch NANDO:1200958 Partial trisomy 1q semapv:MappingInversion +MONDO:0016971 limb-girdle muscular dystrophy skos:closeMatch NANDO:1200490 Limb-girdle muscular dystrophy semapv:MappingInversion +MONDO:0016971 limb-girdle muscular dystrophy skos:closeMatch NANDO:2200858 Limb-girdle muscular dystrophy semapv:MappingInversion +MONDO:0016987 neuroacanthocytosis skos:closeMatch NANDO:1200013 Neuroacanthocytosis semapv:MappingInversion +MONDO:0017025 Langerhans cell histiocytosis specific to childhood skos:closeMatch NANDO:2200031 Langerhans cell histiocytosis semapv:MappingInversion +MONDO:0017029 Langerhans cell histiocytosis specific to adulthood skos:closeMatch NANDO:2200031 Langerhans cell histiocytosis semapv:MappingInversion +MONDO:0017042 thanatophoric dysplasia skos:closeMatch NANDO:1200874 Thanatophoric dysplasia semapv:MappingInversion +MONDO:0017051 classic maple syrup urine disease skos:closeMatch NANDO:2201078 Classic form maple syrup urine disease semapv:MappingInversion +MONDO:0017052 intermediate maple syrup urine disease skos:closeMatch NANDO:2201079 Intermediate maple syrup urine disease semapv:MappingInversion +MONDO:0017053 intermittent maple syrup urine disease skos:closeMatch NANDO:2201080 Intermittent maple syrup urine disease semapv:MappingInversion +MONDO:0017054 thiamine-responsive maple syrup urine disease skos:closeMatch NANDO:2201081 Thiamine-responsive maple syrup urine disease semapv:MappingInversion +MONDO:0017069 spina bifida cystica skos:closeMatch NANDO:1200509 Myelomeningocele semapv:MappingInversion +MONDO:0017069 spina bifida cystica skos:closeMatch NANDO:2100215 Myelomeningocele semapv:MappingInversion +MONDO:0017069 spina bifida cystica skos:closeMatch NANDO:2200814 Myelomeningocele semapv:MappingInversion +MONDO:0017079 meningoencephalocele skos:closeMatch NANDO:2200813 Meningoencephalocele semapv:MappingInversion +MONDO:0017096 isolated focal cortical dysplasia type Ia skos:closeMatch NANDO:1200565 Focal cortical dysplasia type 1a semapv:MappingInversion +MONDO:0017097 isolated focal cortical dysplasia type Ib skos:closeMatch NANDO:1200566 Focal cortical dysplasia type 1b semapv:MappingInversion +MONDO:0017098 isolated focal cortical dysplasia type Ic skos:closeMatch NANDO:1200567 Focal cortical dysplasia type 1c semapv:MappingInversion +MONDO:0017101 isolated focal cortical dysplasia type IIa skos:closeMatch NANDO:1200568 Focal cortical dysplasia type 2a semapv:MappingInversion +MONDO:0017102 isolated focal cortical dysplasia type IIb skos:closeMatch NANDO:1200569 Focal cortical dysplasia type 2b semapv:MappingInversion +MONDO:0017147 idiopathic pulmonary arterial hypertension skos:closeMatch NANDO:2201046 Idiopathic pulmonary arterial hypertension semapv:MappingInversion +MONDO:0017148 heritable pulmonary arterial hypertension skos:closeMatch NANDO:2201047 Familial pulmonary arterial hypertension semapv:MappingInversion +MONDO:0017150 obsolete pulmonary arterial hypertension associated with another disease skos:closeMatch NANDO:2201048 Secondary pulmonary arterial hypertension semapv:MappingInversion +MONDO:0017160 behavioral variant of frontotemporal dementia skos:closeMatch NANDO:1200549 Behavioral variant frontotemporal dementia semapv:MappingInversion +MONDO:0017169 multiple endocrine neoplasia skos:closeMatch NANDO:2100148 Multiple endocrine neoplasia semapv:MappingInversion +MONDO:0017182 familial hyperinsulinism skos:closeMatch NANDO:2100143 Hyperinsulinemic hypoglycemia semapv:MappingInversion +MONDO:0017182 familial hyperinsulinism skos:closeMatch NANDO:2200399 Congenital hyperinsulinemia semapv:MappingInversion +MONDO:0017198 osteopetrosis skos:closeMatch NANDO:1200998 Osteopetrosis semapv:MappingInversion +MONDO:0017198 osteopetrosis skos:closeMatch NANDO:2201013 Osteopetrosis semapv:MappingInversion +MONDO:0017226 Pelizaeus-Merzbacher-like disease skos:closeMatch NANDO:1200577 Pelizaeus-Merzbacher like disease semapv:MappingInversion +MONDO:0017226 Pelizaeus-Merzbacher-like disease skos:closeMatch NANDO:2201289 Pelizaeus-Merzbacher like disease semapv:MappingInversion +MONDO:0017234 inherited prion disease skos:closeMatch NANDO:1200188 Genetic prion diseases semapv:MappingInversion +MONDO:0017236 rapidly progressive glomerulonephritis skos:closeMatch NANDO:1200714 Rapidly progressive glomerulonephritis semapv:MappingInversion +MONDO:0017236 rapidly progressive glomerulonephritis skos:closeMatch NANDO:1200723 Crescentic glomerulonephritis semapv:MappingInversion +MONDO:0017265 autosomal recessive congenital ichthyosis skos:closeMatch NANDO:1200615 Autosomal recessive congenital ichthyosis excluding harlequin ichthyosis semapv:MappingInversion +MONDO:0017265 autosomal recessive congenital ichthyosis skos:closeMatch NANDO:2200991 Autosomal recessive congenital ichthyosis semapv:MappingInversion +MONDO:0017266 keratinopathic ichthyosis skos:closeMatch NANDO:1200610 Keratinopathic ichthyosis semapv:MappingInversion +MONDO:0017266 keratinopathic ichthyosis skos:closeMatch NANDO:2200987 Keratinopathic ichthyosis semapv:MappingInversion +MONDO:0017276 frontotemporal dementia skos:closeMatch NANDO:1200548 Frontotemporal lobar degeneration semapv:MappingInversion +MONDO:0017278 autoimmune polyendocrinopathy skos:closeMatch NANDO:2100125 Autoimmune polyendocrinopathy semapv:MappingInversion +MONDO:0017287 IgG4-related disease skos:closeMatch NANDO:1200923 IgG4-related disease semapv:MappingInversion +MONDO:0017287 IgG4-related disease skos:closeMatch NANDO:1200924 IgG4-related disease semapv:MappingInversion +MONDO:0017314 Ehlers-Danlos syndrome, vascular type skos:closeMatch NANDO:1200648 Ehlers-Danlos syndrome, vascular type semapv:MappingInversion +MONDO:0017314 Ehlers-Danlos syndrome, vascular type skos:closeMatch NANDO:2201258 Ehlers-Danlos syndrome, vascular type semapv:MappingInversion +MONDO:0017319 hereditary elliptocytosis skos:closeMatch NANDO:2200630 Hereditary elliptocytosis semapv:MappingInversion +MONDO:0017320 phosphoenolpyruvate carboxykinase deficiency skos:closeMatch NANDO:2200536 Phosphoenolpyruvate carboxykinase deficiency semapv:MappingInversion +MONDO:0017353 neonatal glycine encephalopathy skos:closeMatch NANDO:1200985 Neonatal nonketotic hyperglycinemia semapv:MappingInversion +MONDO:0017354 infantile glycine encephalopathy skos:closeMatch NANDO:1200986 Infantile nonketotic hyperglycinemia semapv:MappingInversion +MONDO:0017359 3-methylglutaconic aciduria skos:closeMatch NANDO:1200989 Methylglutaconic aciduria semapv:MappingInversion +MONDO:0017359 3-methylglutaconic aciduria skos:closeMatch NANDO:2200496 Methylglutaconic aciduria semapv:MappingInversion +MONDO:0017361 congenital rubella syndrome skos:closeMatch NANDO:2200890 Congenital rubella syndrome semapv:MappingInversion +MONDO:0017364 POEMS syndrome skos:closeMatch NANDO:1200033 Crow-Fukase syndrome semapv:MappingInversion +MONDO:0017380 juvenile polyposis syndrome skos:closeMatch NANDO:2200916 Juvenile polyposis semapv:MappingInversion +MONDO:0017381 congenital herpes simplex virus infection skos:closeMatch NANDO:2200889 Congenital herpes simplex virus infection semapv:MappingInversion +MONDO:0017385 malignant migrating partial seizures of infancy skos:closeMatch NANDO:1200595 Epilepsy of infancy with migrating focal seizures semapv:MappingInversion +MONDO:0017389 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria skos:closeMatch NANDO:1200787 Tetrahydrobiopterin-responsive hyperphenylalaninemia semapv:MappingInversion +MONDO:0017389 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria skos:closeMatch NANDO:2201077 BH4-responsive hyperphenylalaninemia semapv:MappingInversion +MONDO:0017398 3MC syndrome skos:closeMatch NANDO:2200792 Malpuech-Michels-Mingarelli-Carnevale syndrome semapv:MappingInversion +MONDO:0017409 fetal cytomegalovirus syndrome skos:closeMatch NANDO:2200891 Congenital cytomegalovirus infection semapv:MappingInversion +MONDO:0017410 porencephaly skos:closeMatch NANDO:1201074 Porencephaly semapv:MappingInversion +MONDO:0017570 leukocyte adhesion deficiency skos:closeMatch NANDO:1200355 Leukocyte adhesion deficiency semapv:MappingInversion +MONDO:0017570 leukocyte adhesion deficiency skos:closeMatch NANDO:2200755 Leukocyte adhesion deficiency semapv:MappingInversion +MONDO:0017574 chronic intestinal pseudoobstruction skos:closeMatch NANDO:1200458 Chronic idiopathic intestinal pseudo-obstruction semapv:MappingInversion +MONDO:0017574 chronic intestinal pseudoobstruction skos:closeMatch NANDO:2200946 Chronic idiopathic intestinal pseudo-obstruction semapv:MappingInversion +MONDO:0017608 obsolete dystrophic epidermolysis bullosa skos:closeMatch NANDO:2201343 Dystrophic epidermolysis bullosa semapv:MappingInversion +MONDO:0017610 epidermolysis bullosa simplex skos:closeMatch NANDO:1200235 Epidermolysis bullosa simplex semapv:MappingInversion +MONDO:0017610 epidermolysis bullosa simplex skos:closeMatch NANDO:2201341 Epidermolysis bullosa simplex semapv:MappingInversion +MONDO:0017610 epidermolysis bullosa simplex skos:closeMatch NANDO:2201375 Autosomal dominant epidermolysis bullosa simplex semapv:MappingInversion +MONDO:0017612 junctional epidermolysis bullosa skos:closeMatch NANDO:1200236 Junctional epidermolysis bullosa semapv:MappingInversion +MONDO:0017612 junctional epidermolysis bullosa skos:closeMatch NANDO:2201342 Junctional epidermolysis bullosa semapv:MappingInversion +MONDO:0017693 obsolete glycogen storage disease due to glycogen synthase deficiency skos:closeMatch NANDO:1200824 Glycogen storage diseases type 0 semapv:MappingInversion +MONDO:0017694 glycogen storage disease due to acid maltase deficiency, infantile onset skos:closeMatch NANDO:1200139 Classic infantile Pompe disease semapv:MappingInversion +MONDO:0017694 glycogen storage disease due to acid maltase deficiency, infantile onset skos:closeMatch NANDO:2201229 Classic infantile Pompe disease semapv:MappingInversion +MONDO:0017695 glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form skos:closeMatch NANDO:2201159 Glycogen storage disease type IV, hepatic form semapv:MappingInversion +MONDO:0017696 glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form skos:closeMatch NANDO:2201160 Glycogen storage disease type IV, non-progressive hepatic form semapv:MappingInversion +MONDO:0017697 glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form skos:closeMatch NANDO:2201161 Glycogen storage disease type IV, fatal neuromuscular form semapv:MappingInversion +MONDO:0017699 glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form skos:closeMatch NANDO:2201162 Glycogen storage disease type IV, childhood combined hepatic and myopathic form semapv:MappingInversion +MONDO:0017708 mevalonate kinase deficiency skos:closeMatch NANDO:2200436 Hyper IgD syndrome semapv:MappingInversion +MONDO:0017716 disorder of carnitine cycle and carnitine transport skos:closeMatch NANDO:1200969 Carnitine cycle disorders semapv:MappingInversion +MONDO:0017718 obsolete mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes skos:closeMatch NANDO:2200522 Mitochondrial respiratory chain disorders semapv:MappingInversion +MONDO:0017720 GM2 gangliosidosis skos:closeMatch NANDO:1200070 GM2 gangliosidosis semapv:MappingInversion +MONDO:0017720 GM2 gangliosidosis skos:closeMatch NANDO:2200559 GM2 gangliosidosis semapv:MappingInversion +MONDO:0017729 metachromatic leukodystrophy, late infantile form skos:closeMatch NANDO:1200079 Late infantile metachromatic leukodystrophy semapv:MappingInversion +MONDO:0017729 metachromatic leukodystrophy, late infantile form skos:closeMatch NANDO:2201202 Metachromatic leukodystrophy, late infantile form semapv:MappingInversion +MONDO:0017730 metachromatic leukodystrophy, adult form skos:closeMatch NANDO:1200081 Adult metachromatic leukodystrophy semapv:MappingInversion +MONDO:0017730 metachromatic leukodystrophy, adult form skos:closeMatch NANDO:2201204 Metachromatic leukodystrophy, adult form semapv:MappingInversion +MONDO:0017732 alpha-mannosidosis, infantile form skos:closeMatch NANDO:1200127 Alpha-mannosidosis, infantile form semapv:MappingInversion +MONDO:0017732 alpha-mannosidosis, infantile form skos:closeMatch NANDO:2201188 Alpha-mannosidosis, infantile form semapv:MappingInversion +MONDO:0017733 alpha-mannosidosis, adult form skos:closeMatch NANDO:1200128 Alpha-mannosidosis, adult form semapv:MappingInversion +MONDO:0017733 alpha-mannosidosis, adult form skos:closeMatch NANDO:2201189 Alpha-mannosidosis, adult form semapv:MappingInversion +MONDO:0017734 sialidosis skos:closeMatch NANDO:1200116 Sialidosis semapv:MappingInversion +MONDO:0017734 sialidosis skos:closeMatch NANDO:2200556 Sialidosis semapv:MappingInversion +MONDO:0017737 intermediate severe Salla disease skos:closeMatch NANDO:1200148 Intermediate severe Salla disease semapv:MappingInversion +MONDO:0017737 intermediate severe Salla disease skos:closeMatch NANDO:2201238 Intermediate severe Salla disease semapv:MappingInversion +MONDO:0017746 atypical Rett syndrome skos:closeMatch NANDO:1200605 Atypical Rett syndrome semapv:MappingInversion +MONDO:0017773 hypoalphalipoproteinemia skos:closeMatch NANDO:2200605 HDL deficiency semapv:MappingInversion +MONDO:0017778 lamellar ichthyosis skos:closeMatch NANDO:1200617 Lamellar ichthyosis semapv:MappingInversion +MONDO:0017779 alpha-N-acetylgalactosaminidase deficiency skos:closeMatch NANDO:1200134 Schindler disease semapv:MappingInversion +MONDO:0017816 primary systemic amyloidosis skos:closeMatch NANDO:1200209 Systemic amyloidosis semapv:MappingInversion +MONDO:0017827 malignant peripheral nerve sheath tumor skos:closeMatch NANDO:2200102 Malignant neurinoma semapv:MappingInversion +MONDO:0017838 sclerosteosis skos:closeMatch NANDO:2201369 Sclerosteosis semapv:MappingInversion +MONDO:0017842 Senior-Loken syndrome skos:closeMatch NANDO:1201049 Senior-Loken syndrome semapv:MappingInversion +MONDO:0017858 acute erythroid leukemia skos:closeMatch NANDO:2200010 Acute erythremia semapv:MappingInversion +MONDO:0017864 congenital pulmonary veins atresia or stenosis skos:closeMatch NANDO:1200964 Congenital pulmonary vein stenosis semapv:MappingInversion +MONDO:0017864 congenital pulmonary veins atresia or stenosis skos:closeMatch NANDO:2200273 Pulmonary venous obstruction semapv:MappingInversion +MONDO:0017870 supravalvular pulmonary stenosis skos:closeMatch NANDO:2200278 Supravalvular pulmonary stenosis semapv:MappingInversion +MONDO:0017910 dehydrated hereditary stomatocytosis skos:closeMatch NANDO:2200633 Stomatocytic xerocytosis semapv:MappingInversion +MONDO:0017979 autoimmune lymphoproliferative syndrome skos:closeMatch NANDO:1200352 Autoimmune lymphoproliferative syndrome semapv:MappingInversion +MONDO:0017979 autoimmune lymphoproliferative syndrome skos:closeMatch NANDO:2200726 Autoimmune lymphoproliferative syndrome semapv:MappingInversion +MONDO:0017986 disorder of plasmalogens biosynthesis skos:closeMatch NANDO:1200770 Plasmalogen biosynthesis enzyme deficiency semapv:MappingInversion +MONDO:0017987 syringomyelia skos:closeMatch NANDO:1200506 Syringomyelia semapv:MappingInversion +MONDO:0017987 syringomyelia skos:closeMatch NANDO:1200507 Symptomatic syringomyelia semapv:MappingInversion +MONDO:0017990 catecholaminergic polymorphic ventricular tachycardia skos:closeMatch NANDO:2200216 Polymorphic ventricular premature beat semapv:MappingInversion +MONDO:0017990 catecholaminergic polymorphic ventricular tachycardia skos:closeMatch NANDO:2200221 Catecholaminergic polymorphic ventricular tachycardia semapv:MappingInversion +MONDO:0017991 Takayasu arteritis skos:closeMatch NANDO:1200251 Takayasu arteritis semapv:MappingInversion +MONDO:0017991 Takayasu arteritis skos:closeMatch NANDO:2200423 Takayasu arteritis semapv:MappingInversion +MONDO:0017999 fatty acid hydroxylase-associated neurodegeneration skos:closeMatch NANDO:1200541 Fatty acid hydroxylase-associated neurodegeneration semapv:MappingInversion +MONDO:0018018 wild type ATTR amyloidosis skos:closeMatch NANDO:1200212 Transthyretin-related senile systemic amyloidosis semapv:MappingInversion +MONDO:0018029 congenital factor XIII deficiency skos:closeMatch NANDO:2200681 Factor XIII deficiency semapv:MappingInversion +MONDO:0018035 obsolete syndrome with combined immunodeficiency skos:closeMatch NANDO:2100203 Combined immunodeficiency semapv:MappingInversion +MONDO:0018037 hyper-IgE syndrome skos:closeMatch NANDO:1200340 Hyper-IgE syndrome semapv:MappingInversion +MONDO:0018037 hyper-IgE syndrome skos:closeMatch NANDO:2200713 Hyper-IgE syndrome semapv:MappingInversion +MONDO:0018048 heparin-induced thrombocytopenia skos:closeMatch NANDO:2200648 Heparin-induced thrombocytopenia semapv:MappingInversion +MONDO:0018053 trichothiodystrophy skos:closeMatch NANDO:1200627 Trichothiodystrophy semapv:MappingInversion +MONDO:0018065 isolated trigonocephaly skos:closeMatch NANDO:2201305 Non-syndromic metopic craniosynostosis semapv:MappingInversion +MONDO:0018068 trisomy 13 skos:closeMatch NANDO:2200964 Trisomy 13 semapv:MappingInversion +MONDO:0018071 trisomy 18 skos:closeMatch NANDO:2200963 Trisomy 18 semapv:MappingInversion +MONDO:0018072 persistent truncus arteriosus skos:closeMatch NANDO:1200693 Truncus arteriosus communis semapv:MappingInversion +MONDO:0018072 persistent truncus arteriosus skos:closeMatch NANDO:2200261 Truncus arteriosus communis semapv:MappingInversion +MONDO:0018088 familial Mediterranean fever skos:closeMatch NANDO:1200863 Familial Mediterranean fever semapv:MappingInversion +MONDO:0018088 familial Mediterranean fever skos:closeMatch NANDO:2200431 Familial Mediterranean fever semapv:MappingInversion +MONDO:0018089 double outlet right ventricle skos:closeMatch NANDO:1200710 Double outlet right ventricle semapv:MappingInversion +MONDO:0018089 double outlet right ventricle skos:closeMatch NANDO:2100076 Double outlet right ventricle semapv:MappingInversion +MONDO:0018089 double outlet right ventricle skos:closeMatch NANDO:2200256 Double outlet right ventricle semapv:MappingInversion +MONDO:0018090 double outlet left ventricle skos:closeMatch NANDO:2100077 Double-outlet left ventricle semapv:MappingInversion +MONDO:0018090 double outlet left ventricle skos:closeMatch NANDO:2200257 Double-outlet left ventricle semapv:MappingInversion +MONDO:0018097 West syndrome skos:closeMatch NANDO:1200592 West syndrome semapv:MappingInversion +MONDO:0018097 West syndrome skos:closeMatch NANDO:2200878 West syndrome semapv:MappingInversion +MONDO:0018105 Wolfram syndrome skos:closeMatch NANDO:1200757 Wolfram syndrome semapv:MappingInversion +MONDO:0018112 isolated scaphocephaly skos:closeMatch NANDO:2201302 Non-syndromic sagittal craniosynostosis semapv:MappingInversion +MONDO:0018149 GM1 gangliosidosis skos:closeMatch NANDO:1200066 GM1 gangliosidosis semapv:MappingInversion +MONDO:0018149 GM1 gangliosidosis skos:closeMatch NANDO:2200558 GM1 Gangliosidosis semapv:MappingInversion +MONDO:0018150 Gaucher disease skos:closeMatch NANDO:1200056 Gaucher disease semapv:MappingInversion +MONDO:0018150 Gaucher disease skos:closeMatch NANDO:2200562 Gaucher disease semapv:MappingInversion +MONDO:0018153 Erdheim-Chester disease skos:closeMatch NANDO:2200038 Erdheim-Chester disease semapv:MappingInversion +MONDO:0018155 lateral sclerosis skos:closeMatch NANDO:1200008 Primary lateral sclerosis semapv:MappingInversion +MONDO:0018158 mitochondrial DNA depletion syndrome skos:closeMatch NANDO:2200523 Mitochondrial DNA depletion syndrome semapv:MappingInversion +MONDO:0018158 mitochondrial DNA depletion syndrome skos:closeMatch NANDO:2200528 Diseases due to mitochondrial DNA deletion semapv:MappingInversion +MONDO:0018170 idiopathic nephrotic syndrome skos:closeMatch NANDO:1200719 Primary nephrotic syndrome semapv:MappingInversion +MONDO:0018175 combined deficiency of factor V and factor VIII skos:closeMatch NANDO:2200686 Combined deficiency of coagulation factors V and VIII semapv:MappingInversion +MONDO:0018177 glioblastoma skos:closeMatch NANDO:2200087 Glioblastoma semapv:MappingInversion +MONDO:0018178 intestinal lymphangiectasia skos:closeMatch NANDO:2100256 Intestinal lymphangiectasia semapv:MappingInversion +MONDO:0018178 intestinal lymphangiectasia skos:closeMatch NANDO:2200914 Intestinal lymphangiectasia semapv:MappingInversion +MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion skos:closeMatch NANDO:1200552 Acute encephalopathy with biphasic seizures and late reduced diffusion semapv:MappingInversion +MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion skos:closeMatch NANDO:2100247 Acute encephalopathy with biphasic seizures and late reduced diffusion semapv:MappingInversion +MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion skos:closeMatch NANDO:2200901 Acute encephalopathy with biphasic seizures and late reduced diffusion semapv:MappingInversion +MONDO:0018209 Alexander disease type I skos:closeMatch NANDO:1200555 Alexander disease type I semapv:MappingInversion +MONDO:0018210 Alexander disease type II skos:closeMatch NANDO:1200556 Alexander disease type II semapv:MappingInversion +MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch NANDO:1200245 Stevens-Johnson syndrome semapv:MappingInversion +MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch NANDO:2100290 Stevens-Johnson syndrome semapv:MappingInversion +MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch NANDO:2201006 Stevens-Johnson syndrome semapv:MappingInversion +MONDO:0018240 TRPV4-related bone disorder skos:closeMatch NANDO:2201021 Transient receptor potential cation channel, vanilloid subfamily, member 4 -associated disorders semapv:MappingInversion +MONDO:0018251 obsolete glycogen storage disease due to phosphorylase kinase deficiency skos:closeMatch NANDO:1201020 Hepatic glycogen storage disease type IX semapv:MappingInversion +MONDO:0018251 obsolete glycogen storage disease due to phosphorylase kinase deficiency skos:closeMatch NANDO:2200544 Glycogen storage disease type IX semapv:MappingInversion +MONDO:0018271 peripheral primitive neuroectodermal tumor skos:closeMatch NANDO:2200054 Primitive neuroectodermal tumors semapv:MappingInversion +MONDO:0018271 peripheral primitive neuroectodermal tumor skos:closeMatch NANDO:2200055 Peripheral primitive neuroectodermal tumors semapv:MappingInversion +MONDO:0018301 interstitial cystitis skos:closeMatch NANDO:1200743 Interstitial cystitis (Hunner type) semapv:MappingInversion +MONDO:0018305 chronic granulomatous disease skos:closeMatch NANDO:1200357 Chronic granulomatous disease semapv:MappingInversion +MONDO:0018305 chronic granulomatous disease skos:closeMatch NANDO:2200757 Chronic granulomatous disease semapv:MappingInversion +MONDO:0018306 Griscelli syndrome skos:closeMatch NANDO:1200640 Griscelli syndrome semapv:MappingInversion +MONDO:0018307 neurodegeneration with brain iron accumulation skos:closeMatch NANDO:2100241 Neurodegeneration with brain iron accumulation semapv:MappingInversion +MONDO:0018309 Hirschsprung disease skos:closeMatch NANDO:1200903 Hirschsprung disease semapv:MappingInversion +MONDO:0018309 Hirschsprung disease skos:closeMatch NANDO:2200945 Hirschsprung disease semapv:MappingInversion +MONDO:0018309 Hirschsprung disease skos:closeMatch NANDO:2200948 Congenital Isolated Hypoganglionosis semapv:MappingInversion +MONDO:0018310 Langerhans cell histiocytosis skos:closeMatch NANDO:2200031 Langerhans cell histiocytosis semapv:MappingInversion +MONDO:0018328 homozygous familial hypercholesterolemia skos:closeMatch NANDO:1200394 Homozygous familial hypercholesterolemia semapv:MappingInversion +MONDO:0018328 homozygous familial hypercholesterolemia skos:closeMatch NANDO:2201255 Homozygous familial hypercholesterolemia semapv:MappingInversion +MONDO:0018348 obsolete polyglucosan body myopathy type 1 skos:closeMatch NANDO:2200456 RBCK1 deficiency semapv:MappingInversion +MONDO:0018438 eosinophilic gastrointestinal disease skos:closeMatch NANDO:1200454 Eosinophilic gastrointestinal disorders semapv:MappingInversion +MONDO:0018438 eosinophilic gastrointestinal disease skos:closeMatch NANDO:2200807 Eosinophilic gastrointestinal disorders semapv:MappingInversion +MONDO:0018467 nephropathic infantile cystinosis skos:closeMatch NANDO:1200162 Nephropathic cystinosis semapv:MappingInversion +MONDO:0018467 nephropathic infantile cystinosis skos:closeMatch NANDO:2201234 Nephropathic cystinosis semapv:MappingInversion +MONDO:0018470 renal agenesis skos:closeMatch NANDO:2200156 Renal aplasia semapv:MappingInversion +MONDO:0018479 congenital adrenal hyperplasia skos:closeMatch NANDO:1200396 Congenital adrenal enzyme deficiency semapv:MappingInversion +MONDO:0018479 congenital adrenal hyperplasia skos:closeMatch NANDO:1200397 Congenital lipoid adrenal hyperplasia semapv:MappingInversion +MONDO:0018479 congenital adrenal hyperplasia skos:closeMatch NANDO:2100134 Congenital adrenal hyperplasia semapv:MappingInversion +MONDO:0018479 congenital adrenal hyperplasia skos:closeMatch NANDO:2200370 Congenital lipoid adrenal hyperplasia semapv:MappingInversion +MONDO:0018483 secondary pulmonary alveolar proteinosis skos:closeMatch NANDO:1200749 Secondary Pulmonary Alveolar Proteinosis semapv:MappingInversion +MONDO:0018542 severe congenital neutropenia skos:closeMatch NANDO:1200353 Severe congenital neutropenia semapv:MappingInversion +MONDO:0018542 severe congenital neutropenia skos:closeMatch NANDO:2200745 Severe congenital neutropenia semapv:MappingInversion +MONDO:0018544 adrenoleukodystrophy skos:closeMatch NANDO:1200165 Adrenoleukodystrophy semapv:MappingInversion +MONDO:0018544 adrenoleukodystrophy skos:closeMatch NANDO:2200576 Adrenoleukodystrophy semapv:MappingInversion +MONDO:0018554 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis skos:closeMatch NANDO:1200426 Pulmonary veno-occlusive disease / pulmonary capillary hemangiomatosis semapv:MappingInversion +MONDO:0018554 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis skos:closeMatch NANDO:1200428 Pulmonary capillary hemangiomatosis semapv:MappingInversion +MONDO:0018555 hypogonadotropic hypogonadism skos:closeMatch NANDO:1200388 Hypogonadotropic hypogonadism semapv:MappingInversion +MONDO:0018555 hypogonadotropic hypogonadism skos:closeMatch NANDO:2100138 Hypogonadotropic hypogonadism semapv:MappingInversion +MONDO:0018555 hypogonadotropic hypogonadism skos:closeMatch NANDO:2200382 Hypogonadotropic hypogonadism semapv:MappingInversion +MONDO:0018570 hypophosphatasia skos:closeMatch NANDO:1200656 Hypophosphatasia semapv:MappingInversion +MONDO:0018570 hypophosphatasia skos:closeMatch NANDO:2201012 Hypophosphatasia semapv:MappingInversion +MONDO:0018598 obsolete neonatal adrenoleukodystrophy skos:closeMatch NANDO:1200761 Neonatal adrenoleukodystrophy semapv:MappingInversion +MONDO:0018612 congenital hypothyroidism skos:closeMatch NANDO:2200333 Congenital hypothyroidism semapv:MappingInversion +MONDO:0018620 hypothalamic adipsic hypernatraemia syndrome skos:closeMatch NANDO:2200325 Adipsic hypernatremia semapv:MappingInversion +MONDO:0018638 pseudohypoaldosteronism skos:closeMatch NANDO:2100133 Pseudohypoaldosteronism semapv:MappingInversion +MONDO:0018638 pseudohypoaldosteronism skos:closeMatch NANDO:2200367 Pseudohypoaldosteronism semapv:MappingInversion +MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria skos:closeMatch NANDO:1200300 Aplastic anemia-paroxysmal nocturnal hemoglobinuria syndrome semapv:MappingInversion +MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria skos:closeMatch NANDO:1200311 Paroxysmal nocturnal hemoglobinuria semapv:MappingInversion +MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria skos:closeMatch NANDO:2100182 Paroxysmal nocturnal haemoglobinuria semapv:MappingInversion +MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria skos:closeMatch NANDO:2200621 Paroxysmal nocturnal hemoglobinuria semapv:MappingInversion +MONDO:0018645 IgG4-related sclerosing cholangitis skos:closeMatch NANDO:1200928 IgG4-related sclerosing cholangitis semapv:MappingInversion +MONDO:0018646 sclerosing cholangitis skos:closeMatch NANDO:1200440 Primary sclerosing cholangitis semapv:MappingInversion +MONDO:0018646 sclerosing cholangitis skos:closeMatch NANDO:2100265 Primary sclerosing cholangitis semapv:MappingInversion +MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome skos:closeMatch NANDO:1200583 Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum semapv:MappingInversion +MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome skos:closeMatch NANDO:2201295 Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum semapv:MappingInversion +MONDO:0018666 hepatoblastoma skos:closeMatch NANDO:2200046 Hepatoblastoma semapv:MappingInversion +MONDO:0018671 IgG4-related kidney disease skos:closeMatch NANDO:1200930 IgG4-related kidney disease semapv:MappingInversion +MONDO:0018686 acquired Creutzfeldt-Jakob disease skos:closeMatch NANDO:1200192 Environmentally acquired Creutzfeldt-Jakob disease semapv:MappingInversion +MONDO:0018737 catastrophic antiphospholipid syndrome skos:closeMatch NANDO:1200270 Catastrophic antiphospholipid syndrome semapv:MappingInversion +MONDO:0018746 mucous membrane pemphigoid skos:closeMatch NANDO:1200634 Mucous membrane pemphigoid semapv:MappingInversion +MONDO:0018747 acquired epidermolysis bullosa skos:closeMatch NANDO:1200635 Epidermolysis bullosa acquisita semapv:MappingInversion +MONDO:0018762 non-acquired combined pituitary hormone deficiency skos:closeMatch NANDO:2200312 Congenital hypopituitarism semapv:MappingInversion +MONDO:0018766 chronic enteropathy associated with SLCO2A1 gene skos:closeMatch NANDO:2100261 Chronic nonspecific multiple ulcers of the small intestine semapv:MappingInversion +MONDO:0018766 chronic enteropathy associated with SLCO2A1 gene skos:closeMatch NANDO:2200925 Chronic nonspecific multiple ulcers of the small intestine semapv:MappingInversion +MONDO:0018768 familial cold autoinflammatory syndrome skos:closeMatch NANDO:1200466 Familial cold autoinflammatorysyndrome semapv:MappingInversion +MONDO:0018768 familial cold autoinflammatory syndrome skos:closeMatch NANDO:2200449 NLRP12-associated periodic syndrome semapv:MappingInversion +MONDO:0018768 familial cold autoinflammatory syndrome skos:closeMatch NANDO:2200454 NLRP12-associated periodic syndrome semapv:MappingInversion +MONDO:0018768 familial cold autoinflammatory syndrome skos:closeMatch NANDO:2201068 familial cold autoinflammatory syndrome semapv:MappingInversion +MONDO:0018778 intermediate Charcot-Marie-Tooth disease skos:closeMatch NANDO:1200019 Intermediate Charcot-Marie-Tooth disease semapv:MappingInversion +MONDO:0018781 KID syndrome skos:closeMatch NANDO:1200621 Keratitis-ichthyosis-deafness syndrome semapv:MappingInversion +MONDO:0018781 KID syndrome skos:closeMatch NANDO:2200996 Keratitis-ichthyosis-deafness syndrome semapv:MappingInversion +MONDO:0018800 Kallmann syndrome skos:closeMatch NANDO:2200381 Kallmann syndrome semapv:MappingInversion +MONDO:0018808 Caroli syndrome skos:closeMatch NANDO:2200934 Caroli disease semapv:MappingInversion +MONDO:0018824 pyoderma gangrenosum skos:closeMatch NANDO:2200437 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome semapv:MappingInversion +MONDO:0018838 lissencephaly spectrum disorders skos:closeMatch NANDO:1200574 Neuronal migration defects semapv:MappingInversion +MONDO:0018838 lissencephaly spectrum disorders skos:closeMatch NANDO:2200817 Lissencephaly semapv:MappingInversion +MONDO:0018840 isolated congenital hepatic fibrosis skos:closeMatch NANDO:2100267 Congenital hepatic fibrosis semapv:MappingInversion +MONDO:0018840 isolated congenital hepatic fibrosis skos:closeMatch NANDO:2200936 Congenital hepatic fibrosis semapv:MappingInversion +MONDO:0018866 Aicardi-Goutieres syndrome skos:closeMatch NANDO:1200996 Aicardi-Goutières Syndrome semapv:MappingInversion +MONDO:0018866 Aicardi-Goutieres syndrome skos:closeMatch NANDO:2100244 Aicardi-Goutières Syndrome semapv:MappingInversion +MONDO:0018866 Aicardi-Goutieres syndrome skos:closeMatch NANDO:2200893 Aicardi-Goutières Syndrome semapv:MappingInversion +MONDO:0018868 metachromatic leukodystrophy skos:closeMatch NANDO:1200078 Metachromatic leukodystrophy semapv:MappingInversion +MONDO:0018868 metachromatic leukodystrophy skos:closeMatch NANDO:2200560 Metachromatic leukodystrophy semapv:MappingInversion +MONDO:0018869 cobblestone lissencephaly skos:closeMatch NANDO:1201072 Cobblestone brain malformation semapv:MappingInversion +MONDO:0018872 acute megakaryoblastic leukemia skos:closeMatch NANDO:2200011 Acute megakaryoblastic leukemia semapv:MappingInversion +MONDO:0018878 branchiootic syndrome skos:closeMatch NANDO:1200675 Branchio-oto-renal syndrome semapv:MappingInversion +MONDO:0018881 myelodysplastic syndrome skos:closeMatch NANDO:2100003 Myelodysplastic syndrome semapv:MappingInversion +MONDO:0018881 myelodysplastic syndrome skos:closeMatch NANDO:2200019 Myelodysplastic syndrome semapv:MappingInversion +MONDO:0018883 Berardinelli-Seip congenital lipodystrophy skos:closeMatch NANDO:1200859 Generalized congenital lipodystrophy semapv:MappingInversion +MONDO:0018883 Berardinelli-Seip congenital lipodystrophy skos:closeMatch NANDO:2200465 Lipoatrophic diabetes semapv:MappingInversion +MONDO:0018896 thrombotic thrombocytopenic purpura skos:closeMatch NANDO:1200316 Thrombotic thrombocytopenic purpura semapv:MappingInversion +MONDO:0018896 thrombotic thrombocytopenic purpura skos:closeMatch NANDO:2100189 Thrombotic thrombocytopenic purpura semapv:MappingInversion +MONDO:0018896 thrombotic thrombocytopenic purpura skos:closeMatch NANDO:2200649 Thrombotic thrombocytopenic purpura semapv:MappingInversion +MONDO:0018901 left ventricular noncompaction skos:closeMatch NANDO:2200231 Non-compaction of the ventricle semapv:MappingInversion +MONDO:0018904 primary membranoproliferative glomerulonephritis skos:closeMatch NANDO:1200725 Primary membranoproliferative glomerulonephritis semapv:MappingInversion +MONDO:0018904 primary membranoproliferative glomerulonephritis skos:closeMatch NANDO:2200123 Membranoproliferative glomerulonephritis semapv:MappingInversion +MONDO:0018907 craniopharyngioma skos:closeMatch NANDO:2200091 Craniopharyngioma semapv:MappingInversion +MONDO:0018910 oculocutaneous albinism skos:closeMatch NANDO:1200637 Oculocutaneous albinism semapv:MappingInversion +MONDO:0018910 oculocutaneous albinism skos:closeMatch NANDO:1200641 Non-syndromic oculocutaneous albinism semapv:MappingInversion +MONDO:0018910 oculocutaneous albinism skos:closeMatch NANDO:2200986 Oculocutaneous albinism semapv:MappingInversion +MONDO:0018911 maturity-onset diabetes of the young skos:closeMatch NANDO:2200462 Maturity-onset diabetes of the young semapv:MappingInversion +MONDO:0018919 McCune-Albright syndrome skos:closeMatch NANDO:2200412 McCune-Albright syndrome semapv:MappingInversion +MONDO:0018922 cold agglutinin disease skos:closeMatch NANDO:1200307 Cold agglutinin disease semapv:MappingInversion +MONDO:0018922 cold agglutinin disease skos:closeMatch NANDO:2200618 Cold agglutinin disease semapv:MappingInversion +MONDO:0018923 22q11.2 deletion syndrome skos:closeMatch NANDO:1200339 Thymus hypoplasia semapv:MappingInversion +MONDO:0018923 22q11.2 deletion syndrome skos:closeMatch NANDO:1200688 22q11.2 deletion syndrome semapv:MappingInversion +MONDO:0018923 22q11.2 deletion syndrome skos:closeMatch NANDO:2200712 Thymus hypoplasia semapv:MappingInversion +MONDO:0018931 mucolipidosis type III, alpha/beta skos:closeMatch NANDO:1200125 Mucolipidosis III semapv:MappingInversion +MONDO:0018931 mucolipidosis type III, alpha/beta skos:closeMatch NANDO:2200568 Mucolipidosis III semapv:MappingInversion +MONDO:0018937 mucopolysaccharidosis type 3 skos:closeMatch NANDO:1200100 Sanfilippo disease semapv:MappingInversion +MONDO:0018937 mucopolysaccharidosis type 3 skos:closeMatch NANDO:2200549 Mucopolysaccharidosis type III semapv:MappingInversion +MONDO:0018938 mucopolysaccharidosis type 4 skos:closeMatch NANDO:1200105 Morquio syndrome semapv:MappingInversion +MONDO:0018938 mucopolysaccharidosis type 4 skos:closeMatch NANDO:2200550 Mucopolysaccharidosis type IV semapv:MappingInversion +MONDO:0018940 congenital myasthenic syndrome skos:closeMatch NANDO:1200021 Congenital myasthenic syndrome semapv:MappingInversion +MONDO:0018945 McLeod neuroacanthocytosis syndrome skos:closeMatch NANDO:1200015 McLeod syndrome semapv:MappingInversion +MONDO:0018947 centronuclear myopathy skos:closeMatch NANDO:1200481 Myotubular myopathy semapv:MappingInversion +MONDO:0018947 centronuclear myopathy skos:closeMatch NANDO:1200482 Centronuclear myopathy semapv:MappingInversion +MONDO:0018947 centronuclear myopathy skos:closeMatch NANDO:2200867 Myotubular myopathy semapv:MappingInversion +MONDO:0018948 multiminicore myopathy skos:closeMatch NANDO:1200480 Minicore myopathy semapv:MappingInversion +MONDO:0018948 multiminicore myopathy skos:closeMatch NANDO:2200871 Multicore disease semapv:MappingInversion +MONDO:0018949 distal myopathy skos:closeMatch NANDO:1200216 Distal myopathy semapv:MappingInversion +MONDO:0018950 3-methylcrotonyl-CoA carboxylase deficiency skos:closeMatch NANDO:2200495 3-methylcrotonyl-CoA carboxylase deficiency semapv:MappingInversion +MONDO:0018954 Loeys-Dietz syndrome skos:closeMatch NANDO:2200969 Loeys-Dietz syndrome semapv:MappingInversion +MONDO:0018958 nemaline myopathy skos:closeMatch NANDO:1200478 Nemaline myopathy semapv:MappingInversion +MONDO:0018958 nemaline myopathy skos:closeMatch NANDO:2200869 Nemaline myopathy semapv:MappingInversion +MONDO:0018959 potassium-aggravated myotonia skos:closeMatch NANDO:1200500 Sodium channel myotonia semapv:MappingInversion +MONDO:0018960 congenital primary megaureter skos:closeMatch NANDO:2200184 Megaureter semapv:MappingInversion +MONDO:0018965 Alport syndrome skos:closeMatch NANDO:1200712 Alport's syndrome semapv:MappingInversion +MONDO:0018965 Alport syndrome skos:closeMatch NANDO:2200126 Alport syndrome semapv:MappingInversion +MONDO:0018974 paraneoplastic pemphigus skos:closeMatch NANDO:1200231 Paraneoplastic pemphigus semapv:MappingInversion +MONDO:0018975 neurofibromatosis type 1 skos:closeMatch NANDO:1200225 Neurofibromatosis semapv:MappingInversion +MONDO:0018975 neurofibromatosis type 1 skos:closeMatch NANDO:1200226 Neurofibromatosis type 1 semapv:MappingInversion +MONDO:0018975 neurofibromatosis type 1 skos:closeMatch NANDO:2100287 von Recklinghausen's disease semapv:MappingInversion +MONDO:0018975 neurofibromatosis type 1 skos:closeMatch NANDO:2201003 von Recklinghausen's disease semapv:MappingInversion +MONDO:0018979 multifocal motor neuropathy skos:closeMatch NANDO:1200031 Multifocal motor neuropathy semapv:MappingInversion +MONDO:0018982 Niemann-Pick disease type C skos:closeMatch NANDO:1200063 Niemann-Pick disease type C semapv:MappingInversion +MONDO:0018993 Charcot-Marie-Tooth disease type 2 skos:closeMatch NANDO:1200018 Charcot-Marie-Tooth disease type 2 semapv:MappingInversion +MONDO:0018997 Noonan syndrome skos:closeMatch NANDO:1200680 Noonan syndrome semapv:MappingInversion +MONDO:0018997 Noonan syndrome skos:closeMatch NANDO:2200413 Noonan syndrome semapv:MappingInversion +MONDO:0018999 LCAT deficiency skos:closeMatch NANDO:1200852 Lecithin cholesterol acyltransferase deficiency semapv:MappingInversion +MONDO:0019003 multiple endocrine neoplasia type 2 skos:closeMatch NANDO:2200406 Multiple endocrine neoplasia type 2 semapv:MappingInversion +MONDO:0019004 kidney Wilms tumor skos:closeMatch NANDO:2200043 Wilms tumour semapv:MappingInversion +MONDO:0019005 nephronophthisis skos:closeMatch NANDO:1201036 Nephronophthisis semapv:MappingInversion +MONDO:0019005 nephronophthisis skos:closeMatch NANDO:2100015 Nephronophthisis semapv:MappingInversion +MONDO:0019005 nephronophthisis skos:closeMatch NANDO:2200140 Nephronophthisis semapv:MappingInversion +MONDO:0019005 nephronophthisis skos:closeMatch NANDO:2200170 Medullary cystic kidney semapv:MappingInversion +MONDO:0019009 isolated focal cortical dysplasia skos:closeMatch NANDO:1200564 Focal cortical dysplasia semapv:MappingInversion +MONDO:0019011 Charcot-Marie-Tooth disease type 1 skos:closeMatch NANDO:1200017 Charcot-Marie-Tooth disease type 1 semapv:MappingInversion +MONDO:0019012 Carpenter syndrome skos:closeMatch NANDO:2200847 Carpenter syndrome semapv:MappingInversion +MONDO:0019019 osteogenesis imperfecta skos:closeMatch NANDO:1200873 Osteogenesis imperfecta semapv:MappingInversion +MONDO:0019019 osteogenesis imperfecta skos:closeMatch NANDO:2201011 Osteogenesis imperfecta semapv:MappingInversion +MONDO:0019029 segmental odontomaxillary dysplasia skos:closeMatch NANDO:1200561 Septo-optic dysplasia semapv:MappingInversion +MONDO:0019035 pancreatoblastoma skos:closeMatch NANDO:2200082 Pancreatoblastoma semapv:MappingInversion +MONDO:0019037 progressive supranuclear palsy skos:closeMatch NANDO:1200009 Progressive supranuclear palsy semapv:MappingInversion +MONDO:0019040 chromosomal disorder skos:closeMatch NANDO:1100014 Chromosome abnormality semapv:MappingInversion +MONDO:0019040 chromosomal disorder skos:closeMatch NANDO:2100279 Chromosome abnormality semapv:MappingInversion +MONDO:0019040 chromosomal disorder skos:closeMatch NANDO:2100280 Chromosome abnormality semapv:MappingInversion +MONDO:0019046 leukodystrophy skos:closeMatch NANDO:1200575 Congenital hypomyelinating leukodystrophy semapv:MappingInversion +MONDO:0019046 leukodystrophy skos:closeMatch NANDO:2200836 Congenital hypomyelinating leukodystrophy semapv:MappingInversion +MONDO:0019052 inborn errors of metabolism skos:closeMatch NANDO:2100159 Inborn errors of metabolism semapv:MappingInversion +MONDO:0019053 peroxisomal disease skos:closeMatch NANDO:1200758 Peroxisomal disorder semapv:MappingInversion +MONDO:0019053 peroxisomal disease skos:closeMatch NANDO:2100166 Peroxisomal disorder semapv:MappingInversion +MONDO:0019056 neuromuscular disease skos:closeMatch NANDO:1100001 Neuromuscular disease semapv:MappingInversion +MONDO:0019056 neuromuscular disease skos:closeMatch NANDO:2100214 Neuromuscular disease semapv:MappingInversion +MONDO:0019064 hereditary spastic paraplegia skos:closeMatch NANDO:1200052 Hereditary spastic paraplegia semapv:MappingInversion +MONDO:0019065 amyloidosis skos:closeMatch NANDO:2200138 Amyloid nephropathy semapv:MappingInversion +MONDO:0019079 proximal spinal muscular atrophy skos:closeMatch NANDO:2100231 Spinal muscular atrophy semapv:MappingInversion +MONDO:0019082 bullous pemphigoid skos:closeMatch NANDO:1200632 Pemphigoid (including Epidermolysis bullosa acquisita) semapv:MappingInversion +MONDO:0019082 bullous pemphigoid skos:closeMatch NANDO:1200633 Bullous pemphigoid semapv:MappingInversion +MONDO:0019100 neuromyelitis optica skos:closeMatch NANDO:1200027 Neuromyelitis optica spectrum disorders semapv:MappingInversion +MONDO:0019100 neuromyelitis optica skos:closeMatch NANDO:2201322 Neuromyelitis optica semapv:MappingInversion +MONDO:0019123 continuous spikes and waves during sleep skos:closeMatch NANDO:1200601 Epileptic encephalopathy with continuous spike-and-wave during sleep semapv:MappingInversion +MONDO:0019124 microscopic polyangiitis skos:closeMatch NANDO:1200262 Microscopic polyangiitis semapv:MappingInversion +MONDO:0019124 microscopic polyangiitis skos:closeMatch NANDO:2200426 Microscopic polyangiitis semapv:MappingInversion +MONDO:0019125 relapsing polychondritis skos:closeMatch NANDO:1200283 Relapsing polychondritis semapv:MappingInversion +MONDO:0019125 relapsing polychondritis skos:closeMatch NANDO:2100154 Relapsing Polychondritis semapv:MappingInversion +MONDO:0019125 relapsing polychondritis skos:closeMatch NANDO:2200428 Relapsing polychondritis semapv:MappingInversion +MONDO:0019127 polymyositis skos:closeMatch NANDO:1200276 Polymyositis semapv:MappingInversion +MONDO:0019139 acquired hemophilia skos:closeMatch NANDO:1200898 Acquired hemophilia A semapv:MappingInversion +MONDO:0019142 inherited porphyria skos:closeMatch NANDO:2200610 Congenital porphyria semapv:MappingInversion +MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency skos:closeMatch NANDO:1201080 Protein C deficiency semapv:MappingInversion +MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency skos:closeMatch NANDO:2100197 Protein C deficiency semapv:MappingInversion +MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency skos:closeMatch NANDO:2200689 Protein C deficiency semapv:MappingInversion +MONDO:0019146 inherited susceptibility to mycobacterial diseases skos:closeMatch NANDO:1200359 Mendelian susceptibility to mycobacterial disease semapv:MappingInversion +MONDO:0019146 inherited susceptibility to mycobacterial diseases skos:closeMatch NANDO:2200759 Mendelian susceptibility to mycobacterial disease semapv:MappingInversion +MONDO:0019148 Wolman disease skos:closeMatch NANDO:1200142 Acid lipase deficiency semapv:MappingInversion +MONDO:0019148 Wolman disease skos:closeMatch NANDO:1200143 Wolman disease semapv:MappingInversion +MONDO:0019148 Wolman disease skos:closeMatch NANDO:2200570 Acid lipase deficiency semapv:MappingInversion +MONDO:0019148 Wolman disease skos:closeMatch NANDO:2201232 Wolman disease semapv:MappingInversion +MONDO:0019149 cholesteryl ester storage disease skos:closeMatch NANDO:1200144 Cholesterol ester storage disease semapv:MappingInversion +MONDO:0019149 cholesteryl ester storage disease skos:closeMatch NANDO:2201233 Cholesterol ester storage disease semapv:MappingInversion +MONDO:0019154 androgen insensitivity syndrome skos:closeMatch NANDO:2200391 Androgen insensitivity syndrome semapv:MappingInversion +MONDO:0019161 pseudohypoaldosteronism type 1 skos:closeMatch NANDO:2200368 Pseudohypoaldosteronism type I semapv:MappingInversion +MONDO:0019162 pseudohypoaldosteronism type 2 skos:closeMatch NANDO:2200369 Pseudohypoaldosteronism type II semapv:MappingInversion +MONDO:0019165 central precocious puberty skos:closeMatch NANDO:1200381 Central precocious puberty semapv:MappingInversion +MONDO:0019165 central precocious puberty skos:closeMatch NANDO:2200377 Gonadotropin-dependent precocious puberty semapv:MappingInversion +MONDO:0019169 pyruvate dehydrogenase deficiency skos:closeMatch NANDO:2200518 Pyruvate dehydrogenase complex deficiency semapv:MappingInversion +MONDO:0019170 polyarteritis nodosa skos:closeMatch NANDO:1200261 Polyarteritis nodosa semapv:MappingInversion +MONDO:0019170 polyarteritis nodosa skos:closeMatch NANDO:2200425 Polyangiitis nodosa semapv:MappingInversion +MONDO:0019171 familial long QT syndrome skos:closeMatch NANDO:2200228 Long qt syndrome semapv:MappingInversion +MONDO:0019172 aniridia skos:closeMatch NANDO:1201001 Aniridia semapv:MappingInversion +MONDO:0019174 obsolete infantile Refsum disease skos:closeMatch NANDO:1200762 Infantile Refsum disease semapv:MappingInversion +MONDO:0019175 primary lymphedema skos:closeMatch NANDO:2201031 Primary lymphedema semapv:MappingInversion +MONDO:0019180 hereditary hemorrhagic telangiectasia skos:closeMatch NANDO:1200744 Osler disease semapv:MappingInversion +MONDO:0019180 hereditary hemorrhagic telangiectasia skos:closeMatch NANDO:2100296 Hereditary hemorrhagic telangiectasia semapv:MappingInversion +MONDO:0019180 hereditary hemorrhagic telangiectasia skos:closeMatch NANDO:2201034 Hereditary hemorrhagic telangiectasia semapv:MappingInversion +MONDO:0019188 Rubinstein-Taybi syndrome skos:closeMatch NANDO:1200461 Rubinstein-Taybi syndrome semapv:MappingInversion +MONDO:0019188 Rubinstein-Taybi syndrome skos:closeMatch NANDO:2200955 Rubinstein-Taybi syndrome semapv:MappingInversion +MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis skos:closeMatch NANDO:1200929 IgG4-related dacryoadenitis and sialadenitis semapv:MappingInversion +MONDO:0019193 acquired generalized lipodystrophy skos:closeMatch NANDO:1200860 Acquired generalized lipodystrophy semapv:MappingInversion +MONDO:0019200 retinitis pigmentosa skos:closeMatch NANDO:1200431 Retinitis pigmentosa semapv:MappingInversion +MONDO:0019203 acute interstitial pneumonia skos:closeMatch NANDO:1200420 Acute interstitial pneumonia semapv:MappingInversion +MONDO:0019208 Bickerstaff brainstem encephalitis skos:closeMatch NANDO:1200551 Bickerstaff's brainstem encephalitis semapv:MappingInversion +MONDO:0019214 inborn carbohydrate metabolic disorder skos:closeMatch NANDO:2100164 Disorder of carbohydrate metabolism semapv:MappingInversion +MONDO:0019218 inborn disorder of bile acid synthesis skos:closeMatch NANDO:2200506 Inborn errors of bile acid metabolism semapv:MappingInversion +MONDO:0019233 disorder of peroxisomal beta oxidation skos:closeMatch NANDO:1200764 Peroxisomal beta-oxidation enzyme deficiency semapv:MappingInversion +MONDO:0019234 peroxisome biogenesis disorder skos:closeMatch NANDO:1200759 Peroxisome biogenesis disorders semapv:MappingInversion +MONDO:0019234 peroxisome biogenesis disorder skos:closeMatch NANDO:2200575 Peroxisome biogenesis disorders semapv:MappingInversion +MONDO:0019260 adult neuronal ceroid lipofuscinosis skos:closeMatch NANDO:1200155 Adult neuronal ceroid lipofuscinosis semapv:MappingInversion +MONDO:0019260 adult neuronal ceroid lipofuscinosis skos:closeMatch NANDO:2201244 Adult neuronal ceroid lipofuscinosis semapv:MappingInversion +MONDO:0019261 infantile neuronal ceroid lipofuscinosis skos:closeMatch NANDO:1200152 Infantile neuronal ceroid lipofuscinosis semapv:MappingInversion +MONDO:0019261 infantile neuronal ceroid lipofuscinosis skos:closeMatch NANDO:2201241 Infantile neuronal ceroid lipofuscinosis semapv:MappingInversion +MONDO:0019262 juvenile neuronal ceroid lipofuscinosis skos:closeMatch NANDO:1200154 Juvenile neuronal ceroid lipofuscinosis semapv:MappingInversion +MONDO:0019262 juvenile neuronal ceroid lipofuscinosis skos:closeMatch NANDO:2201243 Juvenile neuronal ceroid lipofuscinosis semapv:MappingInversion +MONDO:0019263 autosomal erythropoietic protoporphyria skos:closeMatch NANDO:1200815 Erythropoietic protoporphyria semapv:MappingInversion +MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 skos:closeMatch NANDO:1200137 Schindler disease type 3 semapv:MappingInversion +MONDO:0019269 ichthyosis skos:closeMatch NANDO:1200618 Ichthyosis syndrome semapv:MappingInversion +MONDO:0019306 congenital non-bullous ichthyosiform erythroderma skos:closeMatch NANDO:1200616 Congenital ichthyosiform erythroderma semapv:MappingInversion +MONDO:0019306 congenital non-bullous ichthyosiform erythroderma skos:closeMatch NANDO:1200617 Lamellar ichthyosis semapv:MappingInversion +MONDO:0019312 Hermansky-Pudlak syndrome skos:closeMatch NANDO:1200638 Hermansky-Pudlak syndrome semapv:MappingInversion +MONDO:0019322 pemphigus vegetans skos:closeMatch NANDO:1200232 Pemphigus vegetans semapv:MappingInversion +MONDO:0019323 pemphigus erythematosus skos:closeMatch NANDO:1200233 Pemphigus erythematosus semapv:MappingInversion +MONDO:0019324 pemphigus foliaceus skos:closeMatch NANDO:1200230 Pemphigus foliaceus semapv:MappingInversion +MONDO:0019328 macrocystic lymphatic malformation skos:closeMatch NANDO:1200881 Giant lymphatic malformation (cervicofacial lesion) semapv:MappingInversion +MONDO:0019338 sarcoidosis skos:closeMatch NANDO:1200415 Sarcoidosis semapv:MappingInversion +MONDO:0019341 obsolete tuberous sclerosis complex skos:closeMatch NANDO:1200607 Tuberous sclerosis complex semapv:MappingInversion +MONDO:0019341 obsolete tuberous sclerosis complex skos:closeMatch NANDO:2200826 Tuberous sclerosis complex semapv:MappingInversion +MONDO:0019346 sialidosis type 1 skos:closeMatch NANDO:1200117 Sialidosis type 1 semapv:MappingInversion +MONDO:0019346 sialidosis type 1 skos:closeMatch NANDO:2201191 Sialidosis type 1 semapv:MappingInversion +MONDO:0019349 Sotos syndrome skos:closeMatch NANDO:1200679 Sotos syndrome semapv:MappingInversion +MONDO:0019349 Sotos syndrome skos:closeMatch NANDO:2200953 Sotos syndrome semapv:MappingInversion +MONDO:0019350 hereditary spherocytosis skos:closeMatch NANDO:2200622 Hereditary spherocytosis semapv:MappingInversion +MONDO:0019353 Stargardt disease skos:closeMatch NANDO:1200933 Stargardt disease semapv:MappingInversion +MONDO:0019355 adult-onset Still disease skos:closeMatch NANDO:1200282 Adult Still's disease semapv:MappingInversion +MONDO:0019366 free sialic acid storage disease skos:closeMatch NANDO:1200146 Free sialic acid storage disease semapv:MappingInversion +MONDO:0019366 free sialic acid storage disease skos:closeMatch NANDO:2200572 Free Sialic Acid Storage Disease semapv:MappingInversion +MONDO:0019373 desmoplastic small round cell tumor skos:closeMatch NANDO:2200059 Desmoplastic small round cell tumors semapv:MappingInversion +MONDO:0019391 Fanconi anemia skos:closeMatch NANDO:1200303 Fanconi anemia semapv:MappingInversion +MONDO:0019391 Fanconi anemia skos:closeMatch NANDO:1200891 Fanconi anemia semapv:MappingInversion +MONDO:0019391 Fanconi anemia skos:closeMatch NANDO:2200652 Fanconi anemia semapv:MappingInversion +MONDO:0019399 Isaac syndrome skos:closeMatch NANDO:1200510 Isaacs syndrome semapv:MappingInversion +MONDO:0019402 beta thalassemia skos:closeMatch NANDO:2201274 β-thalassemia semapv:MappingInversion +MONDO:0019403 congenital dyserythropoietic anemia skos:closeMatch NANDO:1200885 Congenital dyserythropoietic anemia semapv:MappingInversion +MONDO:0019403 congenital dyserythropoietic anemia skos:closeMatch NANDO:2100178 Congenital dyserythropoietic anemia semapv:MappingInversion +MONDO:0019403 congenital dyserythropoietic anemia skos:closeMatch NANDO:2200615 Congenital dyserythropoietic anemia semapv:MappingInversion +MONDO:0019408 Astley-Kendall dysplasia skos:closeMatch NANDO:2201362 Astley-Kendall dysplasia semapv:MappingInversion +MONDO:0019415 fetal and neonatal alloimmune thrombocytopenia skos:closeMatch NANDO:2200647 Neonatal alloimmune thrombocytopenia semapv:MappingInversion +MONDO:0019433 oligoarticular juvenile idiopathic arthritis skos:closeMatch NANDO:1200471 Articular-type juvenile idiopathic arthritis semapv:MappingInversion +MONDO:0019433 oligoarticular juvenile idiopathic arthritis skos:closeMatch NANDO:2201056 Oligoarticular juvenile idiopathic arthritis semapv:MappingInversion +MONDO:0019434 systemic-onset juvenile idiopathic arthritis skos:closeMatch NANDO:1200470 Systemic juvenile idiopathic arthritis semapv:MappingInversion +MONDO:0019434 systemic-onset juvenile idiopathic arthritis skos:closeMatch NANDO:2201055 Systemic juvenile idiopathic arthritis semapv:MappingInversion +MONDO:0019435 rheumatoid factor-positive polyarticular juvenile idiopathic arthritis skos:closeMatch NANDO:2201058 Rheumatoid factor-positive juvenile idiopathic arthritis semapv:MappingInversion +MONDO:0019437 enthesitis-related juvenile idiopathic arthritis skos:closeMatch NANDO:2201060 Enthesitis-related juvenile idiopathic arthritis semapv:MappingInversion +MONDO:0019438 AL amyloidosis skos:closeMatch NANDO:1200211 Amyloid light-chain amyloidosis semapv:MappingInversion +MONDO:0019443 dextro-looped transposition of the great arteries skos:closeMatch NANDO:1200698 Corrected transposition of great arteries semapv:MappingInversion +MONDO:0019448 benign adult familial myoclonic epilepsy skos:closeMatch NANDO:1200956 Benign adult familial myoclonus epilepsy semapv:MappingInversion +MONDO:0019460 acute leukemia of ambiguous lineage skos:closeMatch NANDO:2200017 Acute undifferentiated leukemia semapv:MappingInversion +MONDO:0019460 acute leukemia of ambiguous lineage skos:closeMatch NANDO:2200018 Mixed phenotype acute leukemia semapv:MappingInversion +MONDO:0019470 aggressive NK-cell leukemia skos:closeMatch NANDO:2200012 NK cell leukemia semapv:MappingInversion +MONDO:0019472 extranodal nasal NK/T cell lymphoma skos:closeMatch NANDO:2200027 Extranodal NK/T-cell lymphoma, nasal type semapv:MappingInversion +MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma skos:closeMatch NANDO:2200030 Sucutaneous panniculitis-like T-cell lymphoma semapv:MappingInversion +MONDO:0019480 Langerhans cell sarcoma skos:closeMatch NANDO:2200036 Langerhans cell sarcoma semapv:MappingInversion +MONDO:0019485 idiopathic hemiconvulsion-hemiplegia syndrome skos:closeMatch NANDO:1200596 Hemiconvulsion-hemiplegia-epilepsy syndrome semapv:MappingInversion +MONDO:0019487 epilepsy with myoclonic absences skos:closeMatch NANDO:1200589 Myoclonic absence epilepsy semapv:MappingInversion +MONDO:0019499 Turner syndrome skos:closeMatch NANDO:2200410 Turner syndrome semapv:MappingInversion +MONDO:0019501 Usher syndrome skos:closeMatch NANDO:1200941 Usher syndrome semapv:MappingInversion +MONDO:0019503 anterior segment dysgenesis skos:closeMatch NANDO:1201000 Anterior segment dysgenesis semapv:MappingInversion +MONDO:0019532 autoimmune hemolytic anemia, warm type skos:closeMatch NANDO:1200306 Warm antibody hemolytic anemia semapv:MappingInversion +MONDO:0019533 paroxysmal cold hemoglobinuria skos:closeMatch NANDO:1200308 Paroxysmal cold hemoglobinuria semapv:MappingInversion +MONDO:0019533 paroxysmal cold hemoglobinuria skos:closeMatch NANDO:2200619 Paroxysmal cold hemoglobinuria semapv:MappingInversion +MONDO:0019534 mixed-type autoimmune hemolytic anemia skos:closeMatch NANDO:1200309 Mixed-type autoimmune hemolytic anemia semapv:MappingInversion +MONDO:0019536 Shiga toxin-associated hemolytic uremic syndrome skos:closeMatch NANDO:2200640 Shiga toxin-producing escherichia coli hemolytic uremic syndrome semapv:MappingInversion +MONDO:0019563 CREST syndrome skos:closeMatch NANDO:1201011 Limited cutaneous systemic sclerosis semapv:MappingInversion +MONDO:0019600 xeroderma pigmentosum skos:closeMatch NANDO:1200608 Xeroderma pigmentosum semapv:MappingInversion +MONDO:0019600 xeroderma pigmentosum skos:closeMatch NANDO:2100286 Xeroderma pigmentosum semapv:MappingInversion +MONDO:0019600 xeroderma pigmentosum skos:closeMatch NANDO:2201002 Xeroderma pigmentosum semapv:MappingInversion +MONDO:0019607 unspecified juvenile idiopathic arthritis skos:closeMatch NANDO:2201061 Unclassifiable Juvenile idiopathic arthritis semapv:MappingInversion +MONDO:0019609 Zellweger spectrum disorders skos:closeMatch NANDO:1200760 Zellweger syndrome semapv:MappingInversion +MONDO:0019611 TSH-secreting pituitary adenoma skos:closeMatch NANDO:1200377 Diencephalo-hypophysial insufficiency-inappropriate thyroid stimulating hormone syndrome semapv:MappingInversion +MONDO:0019622 non-specific interstitial pneumonia skos:closeMatch NANDO:1200419 Non-specific interstitial pneumonia semapv:MappingInversion +MONDO:0019623 hereditary angioedema skos:closeMatch NANDO:1200365 Hereditary angioedema semapv:MappingInversion +MONDO:0019623 hereditary angioedema skos:closeMatch NANDO:2200795 Hereditary angioedema semapv:MappingInversion +MONDO:0019637 renal hypoplasia skos:closeMatch NANDO:2200155 Hypoplastic kidney semapv:MappingInversion +MONDO:0019638 renal dysplasia skos:closeMatch NANDO:2200161 Renal dysplasia semapv:MappingInversion +MONDO:0019639 congenital megacalycosis skos:closeMatch NANDO:2200177 Megacalycosis semapv:MappingInversion +MONDO:0019642 vitamin D-dependent rickets, type 2 skos:closeMatch NANDO:1200783 Vitamin D-dependent rickets, type 2 semapv:MappingInversion +MONDO:0019654 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis skos:closeMatch NANDO:2200111 Diffuse mesangial sclerosis semapv:MappingInversion +MONDO:0019669 hypochondrogenesis skos:closeMatch NANDO:2201346 Hypochondrogenesis semapv:MappingInversion +MONDO:0019701 chondrodysplasia punctata skos:closeMatch NANDO:2201017 Chondrodysplasia punctata semapv:MappingInversion +MONDO:0019731 AApoAI amyloidosis skos:closeMatch NANDO:1201062 Familial amyloid polyneuropathy type 3 semapv:MappingInversion +MONDO:0019734 juvenile polymyositis skos:closeMatch NANDO:2200419 Juvenile polymyositis semapv:MappingInversion +MONDO:0019736 dense deposit disease skos:closeMatch NANDO:1200739 Primary membranoproliferative glomerulonephritis type II semapv:MappingInversion +MONDO:0019740 acquired thrombotic thrombocytopenic purpura skos:closeMatch NANDO:1200318 Acquired idiopathic thrombotic thrombocytopenic purpura semapv:MappingInversion +MONDO:0019740 acquired thrombotic thrombocytopenic purpura skos:closeMatch NANDO:1200319 Secondary thrombotic thrombocytopenic purpura semapv:MappingInversion +MONDO:0019751 autoinflammatory syndrome skos:closeMatch NANDO:2100156 Autoinflammatory disease semapv:MappingInversion +MONDO:0019773 myelomeningocele skos:closeMatch NANDO:1200509 Myelomeningocele semapv:MappingInversion +MONDO:0019773 myelomeningocele skos:closeMatch NANDO:2100215 Myelomeningocele semapv:MappingInversion +MONDO:0019773 myelomeningocele skos:closeMatch NANDO:2200814 Myelomeningocele semapv:MappingInversion +MONDO:0019787 autoimmune enteropathy skos:closeMatch NANDO:2200923 Autoimmune enteropathy semapv:MappingInversion +MONDO:0019799 hepatoerythropoietic porphyria skos:closeMatch NANDO:1200819 Hepatoerythropoietic porphyria semapv:MappingInversion +MONDO:0019799 hepatoerythropoietic porphyria skos:closeMatch NANDO:2201270 Hepatoerythropoietic porphyria semapv:MappingInversion +MONDO:0019804 tracheomalacia skos:closeMatch NANDO:2200195 Tracheomalacia semapv:MappingInversion +MONDO:0019810 toxic epidermal necrolysis skos:closeMatch NANDO:1200246 Toxic epidermal necrolysis semapv:MappingInversion +MONDO:0019810 toxic epidermal necrolysis skos:closeMatch NANDO:2201007 Toxic epidermal necrolysis semapv:MappingInversion +MONDO:0019813 congenital tricuspid stenosis skos:closeMatch NANDO:1200962 Congenital tricuspid stenosis semapv:MappingInversion +MONDO:0019832 acquired pituitary hormone deficiency skos:closeMatch NANDO:2200313 Acquired hypopituitarism semapv:MappingInversion +MONDO:0019854 thyroid ectopia skos:closeMatch NANDO:2200330 Ectoic thyroid semapv:MappingInversion +MONDO:0019855 athyreosis skos:closeMatch NANDO:2200331 Thyroid agenesis semapv:MappingInversion +MONDO:0019933 acromegaly skos:closeMatch NANDO:2100112 Acromegaly semapv:MappingInversion +MONDO:0019933 acromegaly skos:closeMatch NANDO:2200315 Acromegaly semapv:MappingInversion +MONDO:0019948 reducing body myopathy skos:closeMatch NANDO:2200875 Reducing body myopathy semapv:MappingInversion +MONDO:0019952 congenital myopathy skos:closeMatch NANDO:1200477 Congenital myopathy semapv:MappingInversion +MONDO:0019952 congenital myopathy skos:closeMatch NANDO:2100234 Congenital myopathy semapv:MappingInversion +MONDO:0019959 glucagonoma skos:closeMatch NANDO:2100142 Glucagonoma semapv:MappingInversion +MONDO:0019959 glucagonoma skos:closeMatch NANDO:2200397 Glucagonoma semapv:MappingInversion +MONDO:0019960 VIPoma skos:closeMatch NANDO:2200394 Vipoma semapv:MappingInversion +MONDO:0019983 multiloculated renal cyst skos:closeMatch NANDO:2200171 Multilocular cysts of the kidney semapv:MappingInversion +MONDO:0019992 pseudohypoparathyroidism skos:closeMatch NANDO:1200776 Pseudohypoparathyroidism semapv:MappingInversion +MONDO:0019992 pseudohypoparathyroidism skos:closeMatch NANDO:2100126 Pseudohypoparathyroidism semapv:MappingInversion +MONDO:0019992 pseudohypoparathyroidism skos:closeMatch NANDO:2200349 Pseudohypoparathyroidism semapv:MappingInversion +MONDO:0020007 absence of the pulmonary artery skos:closeMatch NANDO:2200282 Unilateral absence of a pulmonary artery semapv:MappingInversion +MONDO:0020022 central nervous system malformation skos:closeMatch NANDO:2200118 Central nervous system malformation syndrome semapv:MappingInversion +MONDO:0020040 46,XY disorder of sex development skos:closeMatch NANDO:2200393 Disorders of sex development of 46,XX semapv:MappingInversion +MONDO:0020042 obsolete syndrome with 46,XY disorder of sex development skos:closeMatch NANDO:2200393 Disorders of sex development of 46,XX semapv:MappingInversion +MONDO:0020064 pulmonary valve agenesis skos:closeMatch NANDO:2100095 Absent pulmonary valve semapv:MappingInversion +MONDO:0020064 pulmonary valve agenesis skos:closeMatch NANDO:2200280 Absent pulmonary valve semapv:MappingInversion +MONDO:0020066 Ehlers-Danlos syndrome skos:closeMatch NANDO:1200645 Ehlers-Danlos Syndrome semapv:MappingInversion +MONDO:0020066 Ehlers-Danlos syndrome skos:closeMatch NANDO:2200607 Ehlers-Danlos syndrome semapv:MappingInversion +MONDO:0020074 progressive myoclonus epilepsy skos:closeMatch NANDO:1200953 Progressive myoclonus epilepsy semapv:MappingInversion +MONDO:0020074 progressive myoclonus epilepsy skos:closeMatch NANDO:2100237 Progressive myoclonus epilepsy semapv:MappingInversion +MONDO:0020088 familial partial lipodystrophy skos:closeMatch NANDO:1200861 Familial partial lipodystrophy semapv:MappingInversion +MONDO:0020099 inherited sideroblastic anemia skos:closeMatch NANDO:1200892 Hereditary sideroblastic anemia semapv:MappingInversion +MONDO:0020102 hereditary stomatocytosis skos:closeMatch NANDO:2200623 Hereditary stomatocytosis semapv:MappingInversion +MONDO:0020108 autoimmune hemolytic anemia skos:closeMatch NANDO:1200305 Autoimmune hemolytic anemia semapv:MappingInversion +MONDO:0020108 autoimmune hemolytic anemia skos:closeMatch NANDO:2100181 Autoimmune hemolytic anemia semapv:MappingInversion +MONDO:0020121 muscular dystrophy skos:closeMatch NANDO:1200486 Muscular dystrophy semapv:MappingInversion +MONDO:0020121 muscular dystrophy skos:closeMatch NANDO:2100233 Muscular dystrophy semapv:MappingInversion +MONDO:0020242 hereditary macular dystrophy skos:closeMatch NANDO:1200931 Macular dystrophy semapv:MappingInversion +MONDO:0020311 chronic myelomonocytic leukemia skos:closeMatch NANDO:2200014 Chronic myelomonocytic leukemia semapv:MappingInversion +MONDO:0020320 acute myeloblastic leukemia with maturation skos:closeMatch NANDO:2200006 Acute myeloid leukemia with maturation semapv:MappingInversion +MONDO:0020321 acute undifferentiated leukemia skos:closeMatch NANDO:2200017 Acute undifferentiated leukemia semapv:MappingInversion +MONDO:0020325 anaplastic large cell lymphoma skos:closeMatch NANDO:2200021 Anaplastic large cell lymphoma semapv:MappingInversion +MONDO:0020337 congenital dyserythropoietic anemia type 1 skos:closeMatch NANDO:1200886 Congenital dyserythropoietic anemia type I semapv:MappingInversion +MONDO:0020338 adult pure red cell aplasia skos:closeMatch NANDO:1200889 Acquired pure red cell aplasia semapv:MappingInversion +MONDO:0020338 adult pure red cell aplasia skos:closeMatch NANDO:2200613 Acquired pure red cell aplasia semapv:MappingInversion +MONDO:0020341 periventricular nodular heterotopia skos:closeMatch NANDO:1201079 Periventricular nodular heterotopia semapv:MappingInversion +MONDO:0020352 multiple system atrophy, parkinsonian type skos:closeMatch NANDO:1200036 Multiple system atrophy, Parkinsonian type semapv:MappingInversion +MONDO:0020385 congenitally uncorrected transposition of the great arteries with coarctation skos:closeMatch NANDO:1200703 Complete transposition of the great arteries (Group4) semapv:MappingInversion +MONDO:0020391 pulmonary artery coming from the aorta skos:closeMatch NANDO:2200281 Origin of pulmonary artery from ascending aorta semapv:MappingInversion +MONDO:0020398 congenital mitral stenosis skos:closeMatch NANDO:1200963 Congenital mitral stenosis semapv:MappingInversion +MONDO:0020400 congenital supravalvular mitral ring skos:closeMatch NANDO:2200308 Supramitral ring semapv:MappingInversion +MONDO:0020413 encircling double aortic arch skos:closeMatch NANDO:2200290 Double aortic arch disease semapv:MappingInversion +MONDO:0020428 congenital Gerbode defect skos:closeMatch NANDO:2100090 Left ventricular-right atrial communication semapv:MappingInversion +MONDO:0020428 congenital Gerbode defect skos:closeMatch NANDO:2200274 Left ventricular-right atrial communication semapv:MappingInversion +MONDO:0020434 atrial septal defect, ostium secundum type skos:closeMatch NANDO:2200266 Atrial septal defect, ostium secundum type semapv:MappingInversion +MONDO:0020436 atrial septal defect, sinus venosus type skos:closeMatch NANDO:2200267 Atrial septal defect, sinus venosus type semapv:MappingInversion +MONDO:0020439 patent foramen ovale skos:closeMatch NANDO:2200266 Atrial septal defect, ostium secundum type semapv:MappingInversion +MONDO:0020453 congenital partial pulmonary venous return anomaly skos:closeMatch NANDO:2200272 Partial anomalous pulmonary venous connection semapv:MappingInversion +MONDO:0020459 unstable hemoglobin disease skos:closeMatch NANDO:2200625 Unstable hemoglobin disease semapv:MappingInversion +MONDO:0020460 acquired von willebrand syndrome skos:closeMatch NANDO:1200899 Acquired von Willebrand disease semapv:MappingInversion +MONDO:0020476 mesial temporal lobe epilepsy with hippocampal sclerosis skos:closeMatch NANDO:1200588 Mesial temporal lobe epilepsy with bilateral hippocampal sclerosis semapv:MappingInversion +MONDO:0020479 pituitary gigantism skos:closeMatch NANDO:2100111 Pituitary gigantism semapv:MappingInversion +MONDO:0020479 pituitary gigantism skos:closeMatch NANDO:2200314 Pituitary gigantism semapv:MappingInversion +MONDO:0020489 familial hyperreninemic hypoaldosteronism type 1 skos:closeMatch NANDO:2200365 Aldosterone synthase deficiency semapv:MappingInversion +MONDO:0020491 subcortical band heterotopia skos:closeMatch NANDO:1201070 Subcortical band heterotopia semapv:MappingInversion +MONDO:0020492 hemimegalencephaly skos:closeMatch NANDO:1200563 Hemimegalencephaly semapv:MappingInversion +MONDO:0020511 precursor B-cell acute lymphoblastic leukemia skos:closeMatch NANDO:2200001 B-cell precursor lymphoblastic leukemia semapv:MappingInversion +MONDO:0020511 precursor B-cell acute lymphoblastic leukemia skos:closeMatch NANDO:2200022 Precursor B lymphoblastic lymphoma semapv:MappingInversion +MONDO:0020547 chronic graft versus host disease skos:closeMatch NANDO:2100213 Chronic graft-versus-host disease semapv:MappingInversion +MONDO:0020547 chronic graft versus host disease skos:closeMatch NANDO:2200812 Chronic graft-versus-host disease semapv:MappingInversion +MONDO:0020560 atypical teratoid rhabdoid tumor skos:closeMatch NANDO:2200101 Atypical teratoid, rhabdoid tumour semapv:MappingInversion +MONDO:0020586 factor V deficiency skos:closeMatch NANDO:2200674 Factor V deficiency semapv:MappingInversion +MONDO:0020587 factor XI deficiency skos:closeMatch NANDO:2200679 Factor XI deficiency semapv:MappingInversion +MONDO:0020599 acquired coagulation factor deficiency skos:closeMatch NANDO:1200896 Autoimmune acquired coagulation factor deficiency semapv:MappingInversion +MONDO:0020603 X-linked chondrodysplasia punctata 2 skos:closeMatch NANDO:1200630 Conradi Hünermann Happle syndrome semapv:MappingInversion +MONDO:0020603 X-linked chondrodysplasia punctata 2 skos:closeMatch NANDO:2201357 X-linked dominant chondrodysplasia Punctata, Conradi-Hunermann Type semapv:MappingInversion +MONDO:0020640 autoimmune encephalitis skos:closeMatch NANDO:2100248 Autoimmune encephalitis semapv:MappingInversion +MONDO:0020640 autoimmune encephalitis skos:closeMatch NANDO:2200902 Autoimmune encephalitis semapv:MappingInversion +MONDO:0020642 polycystic kidney disease skos:closeMatch NANDO:1200367 Polycystic kidney disease semapv:MappingInversion +MONDO:0020642 polycystic kidney disease skos:closeMatch NANDO:2200152 Polycystic kidney disease semapv:MappingInversion +MONDO:0020690 adult glioblastoma skos:closeMatch NANDO:2200087 Glioblastoma semapv:MappingInversion +MONDO:0020702 autosomal dominant epidermolytic ichthyosis skos:closeMatch NANDO:1200611 Autosomal dominant epidermolytic ichthyosis semapv:MappingInversion +MONDO:0020702 autosomal dominant epidermolytic ichthyosis skos:closeMatch NANDO:2200988 Autosomal dominant epidermolytic ichthyosis semapv:MappingInversion +MONDO:0020743 mixed phenotype acute leukemia skos:closeMatch NANDO:2200018 Mixed phenotype acute leukemia semapv:MappingInversion +MONDO:0020793 oculopharyngodistal myopathy 1 skos:closeMatch NANDO:1200219 Oculopharyngodistal myopathy semapv:MappingInversion +MONDO:0020803 obsolete bundle branch block skos:closeMatch NANDO:2100046 Bundle branch block semapv:MappingInversion +MONDO:0020803 obsolete bundle branch block skos:closeMatch NANDO:2200215 Bundle branch block semapv:MappingInversion +MONDO:0021055 classic familial adenomatous polyposis skos:closeMatch NANDO:2200915 Familial adenomatous polyposis semapv:MappingInversion +MONDO:0021061 neurofibromatosis skos:closeMatch NANDO:1200225 Neurofibromatosis semapv:MappingInversion +MONDO:0021061 neurofibromatosis skos:closeMatch NANDO:1200226 Neurofibromatosis type 1 semapv:MappingInversion +MONDO:0021061 neurofibromatosis skos:closeMatch NANDO:1200227 Neurofibromatosis type 2 semapv:MappingInversion +MONDO:0021061 neurofibromatosis skos:closeMatch NANDO:2201003 von Recklinghausen's disease semapv:MappingInversion +MONDO:0021081 anti-NMDA receptor encephalitis skos:closeMatch NANDO:2201317 Anti-NMDA receptor encephalitis semapv:MappingInversion +MONDO:0021094 immunodeficiency disease skos:closeMatch NANDO:2100204 Immunodeficiency semapv:MappingInversion +MONDO:0021133 acquired factor XIII deficiency skos:closeMatch NANDO:1200897 Autoimmune hemorrhaphilia XIII/13 semapv:MappingInversion +MONDO:0021134 acquired factor X deficiency skos:closeMatch NANDO:1201048 Acquired factor X inhibitor semapv:MappingInversion +MONDO:0021209 heart neoplasm skos:closeMatch NANDO:2100061 Cardiac tumor semapv:MappingInversion +MONDO:0021209 heart neoplasm skos:closeMatch NANDO:2200236 Cardiac tumor semapv:MappingInversion +MONDO:0021902 aortopulmonary window skos:closeMatch NANDO:2100082 Aorto-pulmonary window semapv:MappingInversion +MONDO:0021902 aortopulmonary window skos:closeMatch NANDO:2200262 Aorto-pulmonary window semapv:MappingInversion +MONDO:0021915 arakawa syndrome 2 skos:closeMatch NANDO:2201111 Methylcobalamin deficiency cblG type semapv:MappingInversion +MONDO:0021969 Banti syndrome skos:closeMatch NANDO:1200438 Idiopathic portal hypertension semapv:MappingInversion +MONDO:0022205 pustular psoriasis skos:closeMatch NANDO:1200240 Pustular psoriasis semapv:MappingInversion +MONDO:0022205 pustular psoriasis skos:closeMatch NANDO:2100285 Pustular psoriasis semapv:MappingInversion +MONDO:0022205 pustular psoriasis skos:closeMatch NANDO:2201001 Pustular psoriasis semapv:MappingInversion +MONDO:0022308 corticobasal degeneration disorder skos:closeMatch NANDO:1200011 Corticobasal degeneration semapv:MappingInversion +MONDO:0022402 agyria-pachygyria type 1 skos:closeMatch NANDO:1201068 Agyria semapv:MappingInversion +MONDO:0022402 agyria-pachygyria type 1 skos:closeMatch NANDO:1201069 Pachygyria semapv:MappingInversion +MONDO:0022424 alpha-mannosidosis type 1 skos:closeMatch NANDO:1200127 Alpha-mannosidosis, infantile form semapv:MappingInversion +MONDO:0022424 alpha-mannosidosis type 1 skos:closeMatch NANDO:2201188 Alpha-mannosidosis, infantile form semapv:MappingInversion +MONDO:0022800 type 2 collagenopathy skos:closeMatch NANDO:2201016 Type II collagenopathy semapv:MappingInversion +MONDO:0022858 continuous spike-wave during slow sleep syndrome skos:closeMatch NANDO:1200601 Epileptic encephalopathy with continuous spike-and-wave during sleep semapv:MappingInversion +MONDO:0022880 obsolete corticobasal degeneration skos:closeMatch NANDO:1200011 Corticobasal degeneration semapv:MappingInversion +MONDO:0023258 glycogen storage disease type 1 due to SLC37A4 mutation skos:closeMatch NANDO:1200841 Hepatic glycogen storage disease type Ib semapv:MappingInversion +MONDO:0023419 hyperprolinemia skos:closeMatch NANDO:2200471 Hyperprolinemia semapv:MappingInversion +MONDO:0024291 vascular malformation skos:closeMatch NANDO:2100295 Vascular malformation semapv:MappingInversion +MONDO:0024299 vitamin D-dependent rickets skos:closeMatch NANDO:1200781 Vitamin D-dependent rickets / Osteomalacia semapv:MappingInversion +MONDO:0024299 vitamin D-dependent rickets skos:closeMatch NANDO:2100144 Vitamin D-dependent rickets semapv:MappingInversion +MONDO:0024299 vitamin D-dependent rickets skos:closeMatch NANDO:2200401 Vitamin D-dependent rickets semapv:MappingInversion +MONDO:0024300 hypophosphatemic rickets skos:closeMatch NANDO:1200778 Vitamin D-resistant rickets/Vitamin D-resistant osteomalacia semapv:MappingInversion +MONDO:0024300 hypophosphatemic rickets skos:closeMatch NANDO:1200780 Vitamin D-resistant osteomalacia semapv:MappingInversion +MONDO:0024300 hypophosphatemic rickets skos:closeMatch NANDO:2200402 Vitamin D-resistant osteomalacia semapv:MappingInversion +MONDO:0024300 hypophosphatemic rickets skos:closeMatch NANDO:2200403 Primary hypophosphatemic rickets semapv:MappingInversion +MONDO:0024308 pseudoxanthoma elasticum (inherited or acquired) skos:closeMatch NANDO:1200643 Pseudoxanthoma elasticum semapv:MappingInversion +MONDO:0024327 chronic renal failure syndrome skos:closeMatch NANDO:2100023 Chronic renal failure semapv:MappingInversion +MONDO:0024457 neurodegeneration with brain iron accumulation 2A skos:closeMatch NANDO:1200537 Neurodegeneration with brain iron accumulation type 2A semapv:MappingInversion +MONDO:0024536 glucocorticoid deficiency 1 skos:closeMatch NANDO:1200408 MC2R deficiency semapv:MappingInversion +MONDO:0024538 basal ganglia calcification, idiopathic, 1 skos:closeMatch NANDO:1200208 Familial idiopathic basal ganglia calcification semapv:MappingInversion +MONDO:0024574 von Willebrand disease (hereditary or acquired) skos:closeMatch NANDO:2200682 Von Willebrand disease semapv:MappingInversion +MONDO:0024623 otorhinolaryngologic disease skos:closeMatch NANDO:1100015 Otorhinolaryngological disease semapv:MappingInversion +MONDO:0024644 myocardial ischemia skos:closeMatch NANDO:2100070 Ischemic heart disease semapv:MappingInversion +MONDO:0024677 pancreatic insulinoma skos:closeMatch NANDO:2200398 Insulinoma semapv:MappingInversion +MONDO:0024746 immature teratoma skos:closeMatch NANDO:2200106 Immature teratoma semapv:MappingInversion +MONDO:0025193 oculopharyngodistal myopathy skos:closeMatch NANDO:1200219 Oculopharyngodistal myopathy semapv:MappingInversion +MONDO:0028737 obsolete biliary atresia disorder skos:closeMatch NANDO:1200913 Biliary atresia semapv:MappingInversion +MONDO:0028737 obsolete biliary atresia disorder skos:closeMatch NANDO:2200930 biliary atresia semapv:MappingInversion +MONDO:0034024 kyphoscoliotic Ehlers-Danlos syndrome skos:closeMatch NANDO:1200649 Ehlers-Danlos syndrome, kyphoscoliotic type semapv:MappingInversion +MONDO:0034024 kyphoscoliotic Ehlers-Danlos syndrome skos:closeMatch NANDO:2201259 Ehlers-Danlos syndrome, kyphoscoliotic type semapv:MappingInversion +MONDO:0034976 iatrogenic Creutzfeldt-Jakob disease skos:closeMatch NANDO:1200193 Iatrogenic Creutzfeldt-Jakob disease semapv:MappingInversion +MONDO:0037792 carbohydrate metabolism disease skos:closeMatch NANDO:2100164 Disorder of carbohydrate metabolism semapv:MappingInversion +MONDO:0037858 inherited fatty acid metabolism disorder skos:closeMatch NANDO:2100162 Disorder of fatty-acid metabolism semapv:MappingInversion +MONDO:0037871 amino acid metabolism disease skos:closeMatch NANDO:2100160 Disorder of amino acid metabolism semapv:MappingInversion +MONDO:0037939 porphyria skos:closeMatch NANDO:1200811 Porphyria semapv:MappingInversion +MONDO:0042727 sacrococcygeal teratoma skos:closeMatch NANDO:2100216 Sacrococcygeal teratoma semapv:MappingInversion +MONDO:0042727 sacrococcygeal teratoma skos:closeMatch NANDO:2200816 Sacrococcygeal teratoma semapv:MappingInversion +MONDO:0042727 sacrococcygeal teratoma skos:closeMatch NANDO:2201287 Altman type IV sacrococcygeal teratoma semapv:MappingInversion +MONDO:0042981 aortic valve stenosis skos:closeMatch NANDO:2200306 Aortic valve stenosis semapv:MappingInversion +MONDO:0042983 neurocutaneous syndrome skos:closeMatch NANDO:2100220 Neurocutaneous syndrome semapv:MappingInversion +MONDO:0043094 ichthyosis, follicular skos:closeMatch NANDO:1200628 Ichthyosis follicularis semapv:MappingInversion +MONDO:0043152 negative rheumatoid factor polyarthritis skos:closeMatch NANDO:2201057 Rheumatoid factor-negative juvenile idiopathic arthritis semapv:MappingInversion +MONDO:0043267 rheumatoid vasculitis skos:closeMatch NANDO:1200265 Rheumatoid vasculitis semapv:MappingInversion +MONDO:0043317 amyopathic dermatomyositis skos:closeMatch NANDO:1200275 Amyopathic dermatomyositis semapv:MappingInversion +MONDO:0043472 ectopic ACTH secretion syndrome skos:closeMatch NANDO:2200351 Ectopic ACTH syndrome semapv:MappingInversion +MONDO:0043768 thrombocytopenic purpura skos:closeMatch NANDO:2100188 Thrombocytopenic purpura semapv:MappingInversion +MONDO:0044354 obsolete Rosai-Dorfman disease skos:closeMatch NANDO:2200039 Rosai-Dorfman disease semapv:MappingInversion +MONDO:0044742 autosomal recessive epidermolytic ichthyosis skos:closeMatch NANDO:1200612 Autosomal recessive epidermolytic ichthyosis semapv:MappingInversion +MONDO:0044742 autosomal recessive epidermolytic ichthyosis skos:closeMatch NANDO:2200989 Autosomal recessive epidermolytic ichthyosis semapv:MappingInversion +MONDO:0044744 prekallikrein deficiency skos:closeMatch NANDO:2200684 Congenital prekallikrein deficiency semapv:MappingInversion +MONDO:0044778 nodular lymphocyte predominant Hodgkin lymphoma skos:closeMatch NANDO:1201067 Nodular lymphocyte predominance Hodgkin lymphoma semapv:MappingInversion +MONDO:0044807 inherited dystonia skos:closeMatch NANDO:1200511 Hereditary dystonia semapv:MappingInversion +MONDO:0044808 obsolete early onset primary dystonia skos:closeMatch NANDO:1200512 Dystonia 1 semapv:MappingInversion +MONDO:0044873 childhood myelodysplastic syndrome skos:closeMatch NANDO:2100003 Myelodysplastic syndrome semapv:MappingInversion +MONDO:0044873 childhood myelodysplastic syndrome skos:closeMatch NANDO:2200019 Myelodysplastic syndrome semapv:MappingInversion +MONDO:0044903 myelofibrosis skos:closeMatch NANDO:2100200 Myelofibrosis semapv:MappingInversion +MONDO:0044903 myelofibrosis skos:closeMatch NANDO:2200692 Myelofibrosis semapv:MappingInversion +MONDO:0044917 T-lymphoblastic lymphoma skos:closeMatch NANDO:2200023 Precursor T lymphoblastic lymphoma semapv:MappingInversion +MONDO:0044970 mitochondrial disease skos:closeMatch NANDO:1200173 Mitochondrial diseases semapv:MappingInversion +MONDO:0044970 mitochondrial disease skos:closeMatch NANDO:2100163 Mitochondrial diseases semapv:MappingInversion +MONDO:0045022 disorder of organic acid metabolism skos:closeMatch NANDO:2100161 Disorder of organic acid metabolism semapv:MappingInversion +MONDO:0045045 selective IgG immunodeficiency skos:closeMatch NANDO:1200346 IgG subclass deficiency semapv:MappingInversion +MONDO:0100025 epilepsy of infancy with migrating focal seizures skos:closeMatch NANDO:1200595 Epilepsy of infancy with migrating focal seizures semapv:MappingInversion +MONDO:0100062 developmental and epileptic encephalopathy skos:closeMatch NANDO:1200593 Ohtahara syndrome semapv:MappingInversion +MONDO:0100064 tyrosine hydroxylase deficiency skos:closeMatch NANDO:2200595 Tyrosine hydroxylase deficiency semapv:MappingInversion +MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 skos:closeMatch NANDO:2200662 Familial platelet disorder with propensity to myeloid. semapv:MappingInversion +MONDO:0100133 mitochondrial complex I deficiency skos:closeMatch NANDO:1200180 Mitochondrial complex I deficiency semapv:MappingInversion +MONDO:0100135 Dravet syndrome skos:closeMatch NANDO:1200587 Dravet syndrome semapv:MappingInversion +MONDO:0100135 Dravet syndrome skos:closeMatch NANDO:2200877 Severe myoclonic epilepsy in infancy semapv:MappingInversion +MONDO:0100151 nephropathic cystinosis skos:closeMatch NANDO:1200162 Nephropathic cystinosis semapv:MappingInversion +MONDO:0100151 nephropathic cystinosis skos:closeMatch NANDO:2201234 Nephropathic cystinosis semapv:MappingInversion +MONDO:0100189 apolipoprotein A-I deficiency skos:closeMatch NANDO:2200605 HDL deficiency semapv:MappingInversion +MONDO:0100211 growth hormone insensitivity with immune dysregulation 1, autosomal recessive skos:closeMatch NANDO:2200737 STAT5b deficiency semapv:MappingInversion +MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome skos:closeMatch NANDO:2200999 Ichthyosis-follicularis-atrichia-photophobia syndrome semapv:MappingInversion +MONDO:0100222 A20 haploinsufficiency skos:closeMatch NANDO:1200997 A20 haploinsufficiency semapv:MappingInversion +MONDO:0100222 A20 haploinsufficiency skos:closeMatch NANDO:2200458 A20 haploinsufficiency semapv:MappingInversion +MONDO:0100224 mitochondrial complex I deficiency, nuclear type 1 skos:closeMatch NANDO:1200180 Mitochondrial complex I deficiency semapv:MappingInversion diff --git a/src/ontology/external/nando-mappings.robot.owl b/src/ontology/external/nando-mappings.robot.owl index 8bdc1264..248a59cb 100644 --- a/src/ontology/external/nando-mappings.robot.owl +++ b/src/ontology/external/nando-mappings.robot.owl @@ -8,7 +8,7 @@ xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#" xmlns:oboInOwl="http://www.geneontology.org/formats/oboInOwl#"> - + @@ -30,6 +30,12 @@ + + + + + +