diff --git a/data/count_cases.py b/data/count_cases.py deleted file mode 100644 index e349d3e64..000000000 --- a/data/count_cases.py +++ /dev/null @@ -1,52 +0,0 @@ -import argparse -import glob -from collections import defaultdict -import json -import pprint - -# construct the argument parse and parse the arguments -ap = argparse.ArgumentParser() -ap.add_argument("--directory", "-d", required=True, help="name of the directory with phenopackets") -args = ap.parse_args() -input_dir = args.directory - -# display a friendly message to the user -print(f"Counting phenopackets by disease in {input_dir}.") - - -def get_all_phenopackets(indir): - files = [] - for name in glob.glob(indir + '/*.json'): - files.append(name) - return files - - -def get_disease_name(json_file): - with open(json_file) as f: - data = json.load(f) - if 'interpretations' in data: - interpretations = data['interpretations'] - if len(interpretations) == 1: - interpretation = interpretations[0] - if 'diagnosis' in interpretation: - diagnosis = interpretation['diagnosis'] - if 'disease' in diagnosis: - disease = diagnosis['disease'] - return disease.get('label') - #if we get here, parsing failed - print(f"[ERROR] Could not find diagnosis in {json_file}") - return 'N/A' - - - -phenopacket_json_files = get_all_phenopackets(indir=input_dir) -diagnosis_count_d = defaultdict(int) -total_count = 0 -for jfile in phenopacket_json_files: - dname = get_disease_name(jfile) - diagnosis_count_d[dname] += 1 - total_count += 1 - -for k, v in diagnosis_count_d.items(): - print(f"{k}: {v}/{total_count}") - diff --git a/docs/collections.md b/docs/collections.md index d0babbe29..0a3a9dbe6 100644 --- a/docs/collections.md +++ b/docs/collections.md @@ -32,14 +32,7 @@ were mainly created using the Python library [pyphetools](https://github.com/mon | [TRAF7](){:target="_blank"} | 45 phenopackets; [Cardiac, facial, and digital anomalies with developmental delay](https://omim.org/entry/618164){:target="_blank"} | | [WFS1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/WFS1){:target="_blank"} | 16 phenopackets; [Wolfram syndrome 1](https://omim.org/entry/222300){:target="_blank"}, [Deafness, autosomal dominant 6](https://omim.org/entry/600965){:target="_blank"} | | [WWOX](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/WWOX){:target="_blank"} | 9 phenopackets; [Developmental and epileptic encephalopathy 28](https://omim.org/entry/616211){:target="_blank"}, [Spinocerebellar ataxia, autosomal recessive 12](https://omim.org/entry/614322){:target="_blank"} | -| [ZSWIN6](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/ZSWIM6){:target="_blank"} |?? phenopackets; [Acromelic frontonasal dysostosis](https://omim.org/entry/603671){:target="_blank"}, [Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features](https://omim.org/entry/617865){:target="_blank"} - - - - - - - +| [ZSWIN6](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/ZSWIM6){:target="_blank"} | 16 phenopackets; [Acromelic frontonasal dysostosis](https://omim.org/entry/603671){:target="_blank"}, [Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features](https://omim.org/entry/617865){:target="_blank"} diff --git a/notebooks/EZH1/GraciaDiaz_EZH1_PMID_37433783.ipynb b/notebooks/EZH1/GraciaDiaz_EZH1_PMID_37433783.ipynb index 3dccbc8e1..ef7e45489 100644 --- a/notebooks/EZH1/GraciaDiaz_EZH1_PMID_37433783.ipynb +++ b/notebooks/EZH1/GraciaDiaz_EZH1_PMID_37433783.ipynb @@ -20,14 +20,14 @@ "name": "stdout", "output_type": "stream", "text": [ - "pyphetools version 0.8.25\n" + "pyphetools version 0.9.1\n" ] } ], "source": [ - "import phenopackets as php\n", - "from google.protobuf.json_format import MessageToDict, MessageToJson\n", - "from google.protobuf.json_format import Parse, ParseDict\n", + "#import phenopackets as php\n", + "##from google.protobuf.json_format import MessageToDict, MessageToJson\n", + "#from google.protobuf.json_format import Parse, ParseDict\n", "import pandas as pd\n", "pd.set_option('display.max_colwidth', None) # show entire column contents, important!\n", "from IPython.display import display, HTML\n", @@ -53,13 +53,14 @@ } ], "source": [ + "PMID=\"PMID:37433783\"\n", + "title = \"Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders\"\n", + "citation = Citation(pmid=PMID, title=title)\n", "parser = HpoParser()\n", "hpo_cr = parser.get_hpo_concept_recognizer()\n", "hpo_version = parser.get_version()\n", "hpo_ontology = parser.get_ontology()\n", - "pmid=\"PMID:37433783\"\n", - "title = \"Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders\"\n", - "metadata = MetaData(created_by=\"ORCID:0000-0002-0736-9199\", pmid=pmid, pubmed_title=title)\n", + "metadata = MetaData(created_by=\"ORCID:0000-0002-0736-9199\", citation=citation)\n", "metadata.default_versions_with_hpo(version=hpo_version)\n", "metadata.mondo()\n", "print(f\"HPO version {hpo_version}\")" @@ -692,84 +693,104 @@ " \n", " \n", " \n", + " original text\n", " terms\n", " \n", " \n", " \n", " \n", " 0\n", + " yes, IQ 61\n", " HP:0001249 (Intellectual disability/observed); HP:0001256 (Intellectual disability, mild/observed)\n", " \n", " \n", " 1\n", + " NR\n", " n/a\n", " \n", " \n", " 2\n", + " not checked\n", " n/a\n", " \n", " \n", " 3\n", + " yes\n", " HP:0001249 (Intellectual disability/observed)\n", " \n", " \n", " 4\n", + " yes\n", " HP:0001249 (Intellectual disability/observed)\n", " \n", " \n", " 5\n", + " yes mild\n", " HP:0001256 (Intellectual disability, mild/observed)\n", " \n", " \n", " 6\n", + " yes\n", " HP:0001249 (Intellectual disability/observed)\n", " \n", " \n", " 7\n", + " yes\n", " HP:0001249 (Intellectual disability/observed)\n", " \n", " \n", " 8\n", + " yes (severe to profound)\n", " HP:0010864 (Intellectual disability, severe/observed)\n", " \n", " \n", " 9\n", + " yes\n", " HP:0001249 (Intellectual disability/observed)\n", " \n", " \n", " 10\n", + " yes\n", " HP:0001249 (Intellectual disability/observed)\n", " \n", " \n", " 11\n", + " too young for formal testing (Developmental delay - yes)\n", " HP:0001263 (Global developmental delay/observed)\n", " \n", " \n", " 12\n", + " yes\n", " HP:0001249 (Intellectual disability/observed)\n", " \n", " \n", " 13\n", + " yes\n", " HP:0001249 (Intellectual disability/observed)\n", " \n", " \n", " 14\n", + " yes\n", " HP:0001249 (Intellectual disability/observed)\n", " \n", " \n", " 15\n", + " yes\n", " HP:0001249 (Intellectual disability/observed)\n", " \n", " \n", " 16\n", + " yes IQ: 48\n", " HP:0002342 (Intellectual disability, moderate/observed)\n", " \n", " \n", " 17\n", + " yes\n", " HP:0001249 (Intellectual disability/observed)\n", " \n", " \n", " 18\n", + " yes\n", " HP:0001249 (Intellectual disability/observed)\n", " \n", " \n", @@ -777,26 +798,47 @@ "" ], "text/plain": [ - " terms\n", - "0 HP:0001249 (Intellectual disability/observed); HP:0001256 (Intellectual disability, mild/observed)\n", - "1 n/a\n", - "2 n/a\n", - "3 HP:0001249 (Intellectual disability/observed)\n", - "4 HP:0001249 (Intellectual disability/observed)\n", - "5 HP:0001256 (Intellectual disability, mild/observed)\n", - "6 HP:0001249 (Intellectual disability/observed)\n", - "7 HP:0001249 (Intellectual disability/observed)\n", - "8 HP:0010864 (Intellectual disability, severe/observed)\n", - "9 HP:0001249 (Intellectual disability/observed)\n", - "10 HP:0001249 (Intellectual disability/observed)\n", - "11 HP:0001263 (Global developmental delay/observed)\n", - "12 HP:0001249 (Intellectual disability/observed)\n", - "13 HP:0001249 (Intellectual disability/observed)\n", - "14 HP:0001249 (Intellectual disability/observed)\n", - "15 HP:0001249 (Intellectual disability/observed)\n", - "16 HP:0002342 (Intellectual disability, moderate/observed)\n", - "17 HP:0001249 (Intellectual disability/observed)\n", - "18 HP:0001249 (Intellectual disability/observed)" + " original text \\\n", + "0 yes, IQ 61 \n", + "1 NR \n", + "2 not checked \n", + "3 yes \n", + "4 yes \n", + "5 yes mild \n", + "6 yes \n", + "7 yes \n", + "8 yes (severe to profound) \n", + "9 yes \n", + "10 yes \n", + "11 too young for formal testing (Developmental delay - yes) \n", + "12 yes \n", + "13 yes \n", + "14 yes \n", + "15 yes \n", + "16 yes IQ: 48 \n", + "17 yes \n", + "18 yes \n", + "\n", + " terms \n", + "0 HP:0001249 (Intellectual disability/observed); HP:0001256 (Intellectual disability, mild/observed) \n", + "1 n/a \n", + "2 n/a \n", + "3 HP:0001249 (Intellectual disability/observed) \n", + "4 HP:0001249 (Intellectual disability/observed) \n", + "5 HP:0001256 (Intellectual disability, mild/observed) \n", + "6 HP:0001249 (Intellectual disability/observed) \n", + "7 HP:0001249 (Intellectual disability/observed) \n", + "8 HP:0010864 (Intellectual disability, severe/observed) \n", + "9 HP:0001249 (Intellectual disability/observed) \n", + "10 HP:0001249 (Intellectual disability/observed) \n", + "11 HP:0001263 (Global developmental delay/observed) \n", + "12 HP:0001249 (Intellectual disability/observed) \n", + "13 HP:0001249 (Intellectual disability/observed) \n", + "14 HP:0001249 (Intellectual disability/observed) \n", + "15 HP:0001249 (Intellectual disability/observed) \n", + "16 HP:0002342 (Intellectual disability, moderate/observed) \n", + "17 HP:0001249 (Intellectual disability/observed) \n", + "18 HP:0001249 (Intellectual disability/observed) " ] }, "execution_count": 9, @@ -824,7 +866,6 @@ "metadata": {}, "outputs": [], "source": [ - "\n", "autistic_like_behavior_d = {\n", " 'stereotypies': 'Abnormal repetitive mannerisms',\n", " 'yes - was being investigated': 'Autism',\n", @@ -1381,46 +1422,6 @@ { "cell_type": "code", "execution_count": 41, - "id": "913fdd01", - "metadata": {}, - "outputs": [ - { - "data": { - "text/plain": [ - "0 p.R406H (heterozygous)\n", - "1 p.E438D (heterozygous)\n", - "2 p.K612M (heterozygous)\n", - "3 p.A678G (heterozygous)\n", - "4 p.R728G (heterozygous)\n", - "5 p.R728G (heterozygous)\n", - "6 p.Q731E (heterozygous)\n", - "7 p.L735F (heterozygous)\n", - "8 p.L735F (heterozygous)\n", - "9 Stop gain (p.R258X) homozyogus\n", - "10 Stop gain (p.R258X) homozyogus\n", - "11 Splice+deletion (compound heterozygous)\n", - "12 Stop gain (p.E485X) homozyogus\n", - "13 Stop gain (p.E485X) homozyogus\n", - "14 Stop gain (p.E485X) homozyogus\n", - "15 Stop gain (p.E485X) homozyogus\n", - "16 Stop gain (p.E485X) homozyogus\n", - "17 Stop gain (p.E485X) homozyogus\n", - "18 Stop gain (p.Q413X) homozygous\n", - "Name: Type of mutation, dtype: object" - ] - }, - "execution_count": 41, - "metadata": {}, - "output_type": "execute_result" - } - ], - "source": [ - "df['Type of mutation']" - ] - }, - { - "cell_type": "code", - "execution_count": 42, "id": "cb9a7f32", "metadata": {}, "outputs": [], @@ -1451,7 +1452,7 @@ }, { "cell_type": "code", - "execution_count": 43, + "execution_count": 42, "id": "496f845e", "metadata": {}, "outputs": [], @@ -1463,7 +1464,7 @@ }, { "cell_type": "code", - "execution_count": 44, + "execution_count": 43, "id": "9257919b", "metadata": {}, "outputs": [ @@ -1471,29 +1472,17 @@ "name": "stdout", "output_type": "stream", "text": [ - "Validating c.1217G>A\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_001991.5%3Ac.1217G>A/NM_001991.5?content-type=application%2Fjson\n", - "Validating c.1314A>T\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_001991.5%3Ac.1314A>T/NM_001991.5?content-type=application%2Fjson\n", - "Validating c.1835A>T\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_001991.5%3Ac.1835A>T/NM_001991.5?content-type=application%2Fjson\n", - "Validating c.2033C>G\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_001991.5%3Ac.2033C>G/NM_001991.5?content-type=application%2Fjson\n", - "Validating c.2182A>G\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_001991.5%3Ac.2182A>G/NM_001991.5?content-type=application%2Fjson\n", - "Validating c.2191C>G\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_001991.5%3Ac.2191C>G/NM_001991.5?content-type=application%2Fjson\n", - "Validating c.2203C>T\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_001991.5%3Ac.2203C>T/NM_001991.5?content-type=application%2Fjson\n", - "Validating c.772C>T\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_001991.5%3Ac.772C>T/NM_001991.5?content-type=application%2Fjson\n", - "Validating c.1401+3_1403del\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_001991.5%3Ac.1401+3_1403del/NM_001991.5?content-type=application%2Fjson\n", - "Validating c.664+2_665-1del\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_001991.5%3Ac.664+2_665-1del/NM_001991.5?content-type=application%2Fjson\n", - "Validating c.1453G>T\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_001991.5%3Ac.1453G>T/NM_001991.5?content-type=application%2Fjson\n", - "Validating c.1237C>T\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_001991.5%3Ac.1237C>T/NM_001991.5?content-type=application%2Fjson\n", "We got 12 variant objects\n" ] @@ -1503,7 +1492,7 @@ "for k, var_arr in mutation_d.items():\n", " var = var_arr[0]\n", " genotype = var_arr[1]\n", - " print(f\"Validating {var}\")\n", + " #print(f\"Validating {var}\")\n", " var_object = validator.encode_hgvs(hgvs=var)\n", " var_object.set_genotype(genotype)\n", " validated_var_d[k] = var_object\n", @@ -1512,7 +1501,7 @@ }, { "cell_type": "code", - "execution_count": 45, + "execution_count": 44, "id": "cb279218", "metadata": {}, "outputs": [ @@ -1535,7 +1524,7 @@ " agemapper=ageMapper, \n", " sexmapper=sexMapper,\n", " metadata=metadata,\n", - " pmid=pmid)\n", + " citation=citation)\n", "omim_label = \"EZH1-related neurodevelopmental disorder\"\n", "omim_id = \"OMIM:601674\"\n", "disease = Disease(disease_id=omim_id, disease_label=omim_label) # Note, no OMIM entryyet\n", @@ -1544,7 +1533,7 @@ }, { "cell_type": "code", - "execution_count": 46, + "execution_count": 45, "id": "1c3a0cd8", "metadata": {}, "outputs": [ @@ -1562,7 +1551,7 @@ }, { "cell_type": "code", - "execution_count": 47, + "execution_count": 46, "id": "4620ee7e", "metadata": {}, "outputs": [], @@ -1594,7 +1583,7 @@ }, { "cell_type": "code", - "execution_count": 48, + "execution_count": 47, "id": "ecd25a7c-ec05-4bb1-8623-0d411b81f55c", "metadata": {}, "outputs": [ @@ -1606,12 +1595,7 @@ "\n", "\n", "\n", - "\n", - "\n", - "\n", "\n", - "\n", - "\n", "\n", "\n", "\n", @@ -1623,8 +1607,6 @@ "\n", "\n", "\n", - "\n", - "\n", "\n", "\n", "\n", @@ -1659,7 +1641,7 @@ }, { "cell_type": "code", - "execution_count": 49, + "execution_count": 48, "id": "db59e939-2be2-46a4-815b-76762d44c797", "metadata": {}, "outputs": [ @@ -1686,7 +1668,7 @@ }, { "cell_type": "code", - "execution_count": 50, + "execution_count": 49, "id": "9c7e59e7", "metadata": {}, "outputs": [ @@ -1696,25 +1678,25 @@ "
Error analysis
IDLevelCategoryMessageHPO Term
PMID_37433783_P10ERRORCONFLICTBroad-based gait (HP:0002136) conflicts with the excluded term Gait disturbance (HP:0001288) Gait disturbance (HP:0001288)
PMID_37433783_P11ERRORCONFLICTBroad-based gait (HP:0002136) conflicts with the excluded term Gait disturbance (HP:0001288) Gait disturbance (HP:0001288)
PMID_37433783_P6ERRORCONFLICTDysmetria (HP:0001310) conflicts with the excluded term Ataxia (HP:0001251) Ataxia (HP:0001251)
PMID_37433783_P9ERRORCONFLICTHorizontal nystagmus (HP:0000666) conflicts with the excluded term Nystagmus (HP:0000639) Nystagmus (HP:0000639)
PMID_37433783_P18ERRORCONFLICTUnsteady gait (HP:0002317) conflicts with the excluded term Gait disturbance (HP:0001288) Gait disturbance (HP:0001288)
PMID_37433783_P3WARNINGREDUNDANTAnemia is redundant because of Normocytic anemiaexcluded: Anemia (HP:0001903)
PMID_37433783_P6WARNINGREDUNDANTAtaxia is redundant because of DysmetriaAtaxia (HP:0001251)
PMID_37433783_P4WARNINGREDUNDANTDelayed gross motor development is redundant because of Delayed ability to walkDelayed gross motor development (HP:0002194)
PMID_37433783_P8WARNINGREDUNDANTDelayed gross motor development is redundant because of Delayed ability to walkDelayed gross motor development (HP:0002194)
PMID_37433783_P8WARNINGREDUNDANTReduced cerebral white matter volume is listed multiple timesReduced cerebral white matter volume (HP:0034295)
PMID_37433783_P6WARNINGREDUNDANTSeizure is listed multiple timesSeizure (HP:0001250)
PMID_37433783_P1WARNINGREDUNDANTSkeletal muscle atrophy is listed multiple timesexcluded: Skeletal muscle atrophy (HP:0003202)
PMID_37433783_P3WARNINGREDUNDANTSkeletal muscle atrophy is listed multiple timesexcluded: Skeletal muscle atrophy (HP:0003202)
PMID_37433783_P4WARNINGREDUNDANTSkeletal muscle atrophy is listed multiple timesexcluded: Skeletal muscle atrophy (HP:0003202)
PMID_37433783_P5WARNINGREDUNDANTSkeletal muscle atrophy is listed multiple timesexcluded: Skeletal muscle atrophy (HP:0003202)
PMID_37433783_P10WARNINGREDUNDANTSkeletal muscle atrophy is listed multiple timesSkeletal muscle atrophy (HP:0003202)
PMID_37433783_P11WARNINGREDUNDANTSkeletal muscle atrophy is listed multiple timesexcluded: Skeletal muscle atrophy (HP:0003202)
\n", "\n", "\n", - "\n", + "\n", "\n", - "\n", - "\n", - "\n", - "\n", - "\n", - "\n", - "\n", - "\n", - "\n", - "\n", - "\n", + "\n", + "\n", + "\n", + "\n", + "\n", + "\n", + "\n", + "\n", + "\n", + "\n", + "\n", "\n", - "\n", + "\n", "\n", - "\n", - "\n", - "\n", + "\n", + "\n", + "\n", "
19 phenopackets - PMID:37433783 (n=19)
IndividualDiseaseGenotypePhenotypic features
P1 (FEMALE; )EZH1-related neurodevelopmental disorder (OMIM:601674)NM_001991.5:c.1217G>A (heterozygous)Shoulder pain (HP:0030834); Delayed gross motor development (HP:0002194); Delayed fine motor development (HP:0010862); Delayed speech and language development (HP:0000750); Delayed early-childhood social milestone development (HP:0012434); Intellectual disability (HP:0001249); Microcephaly (HP:0000252); Upslanted palpebral fissure (HP:0000582); Microtia (HP:0008551); High palate (HP:0000218); Hypertension (HP:0000822); Scoliosis (HP:0002650); excluded: Shoulder pain (HP:0030834); excluded: Autism (HP:0000717); excluded: Developmental regression (HP:0002376); excluded: Hypertonia (HP:0001276); excluded: Hypotonia (HP:0001252); excluded: Dystonia (HP:0001332); excluded: Abnormal reflex (HP:0031826); excluded: Postural instability (HP:0002172); excluded: Dysmetria (HP:0001310); excluded: Gait disturbance (HP:0001288); excluded: Skeletal muscle atrophy (HP:0003202); excluded: Cerebral visual impairment (HP:0100704); excluded: Optic atrophy (HP:0000648); excluded: Nystagmus (HP:0000639); excluded: Hearing impairment (HP:0000365)
P1 (FEMALE; )EZH1-related neurodevelopmental disorder (OMIM:601674)NM_001991.5:c.1217G>A (heterozygous)Shoulder pain (HP:0030834); Delayed gross motor development (HP:0002194); Delayed fine motor development (HP:0010862); Delayed speech and language development (HP:0000750); Delayed early-childhood social milestone development (HP:0012434); Intellectual disability (HP:0001249); Microcephaly (HP:0000252); Upslanted palpebral fissure (HP:0000582); Microtia (HP:0008551); High palate (HP:0000218); Hypertension (HP:0000822); Scoliosis (HP:0002650); excluded: Autism (HP:0000717); excluded: Hypotonia (HP:0001252); excluded: Postural instability (HP:0002172); excluded: Developmental regression (HP:0002376); excluded: Optic atrophy (HP:0000648); excluded: Hearing impairment (HP:0000365); excluded: Dysmetria (HP:0001310); excluded: Dystonia (HP:0001332); excluded: Abnormal reflex (HP:0031826); excluded: Nystagmus (HP:0000639); excluded: Skeletal muscle atrophy (HP:0003202); excluded: Gait disturbance (HP:0001288); excluded: Cerebral visual impairment (HP:0100704); excluded: Hypertonia (HP:0001276)
P2 (UNKNOWN; )EZH1-related neurodevelopmental disorder (OMIM:601674)NM_001991.5:c.1314A>T (heterozygous)Delayed gross motor development (HP:0002194); Delayed fine motor development (HP:0010862); Delayed speech and language development (HP:0000750); Intellectual disability (HP:0001249); Mitral valve prolapse (HP:0001634); Scoliosis (HP:0002650)
P3 (MALE; )EZH1-related neurodevelopmental disorder (OMIM:601674)NM_001991.5:c.1835A>T (heterozygous)Delayed gross motor development (HP:0002194); Appendicular hypotonia (HP:0012389); Hyporeflexia (HP:0001265); Delayed fine motor development (HP:0010862); Weak grip (HP:0033466); Delayed speech and language development (HP:0000750); Intellectual disability (HP:0001249); Clonus (HP:0002169); Postural instability (HP:0002172); Gait ataxia (HP:0002066); Abnormal facial shape (HP:0001999); Trigonocephaly (HP:0000243); Downslanted palpebral fissures (HP:0000494); Thin upper lip vermilion (HP:0000219); Prominent metopic ridge (HP:0005487); Normocytic anemia (HP:0001897); excluded: Joint stiffness (HP:0001387); excluded: Autism (HP:0000717); excluded: Aggressive behavior (HP:0000718); excluded: Developmental regression (HP:0002376); excluded: Delayed early-childhood social milestone development (HP:0012434); excluded: Hypertonia (HP:0001276); excluded: Dystonia (HP:0001332); excluded: Clonus (HP:0002169); excluded: Dysmetria (HP:0001310); excluded: Gait ataxia (HP:0002066); excluded: Skeletal muscle atrophy (HP:0003202); excluded: Cerebral visual impairment (HP:0100704); excluded: Optic atrophy (HP:0000648); excluded: Nystagmus (HP:0000639); excluded: Hearing impairment (HP:0000365); excluded: Normocytic anemia (HP:0001897)
P4 (MALE; )EZH1-related neurodevelopmental disorder (OMIM:601674)NM_001991.5:c.2033C>G (heterozygous)Delayed fine motor development (HP:0010862); Absent speech (HP:0001344); Delayed early-childhood social milestone development (HP:0012434); Intellectual disability (HP:0001249); Axial hypotonia (HP:0008936); Dystonia (HP:0001332); Postural instability (HP:0002172); Delayed ability to walk (HP:0031936); Asthenia (HP:0025406); Reduced cerebral white matter volume (HP:0034295); Frontal bossing (HP:0002007); Mandibular prognathia (HP:0000303); Midface retrusion (HP:0011800); Deeply set eye (HP:0000490); Downturned corners of mouth (HP:0002714); Widely spaced teeth (HP:0000687); Sparse hair (HP:0008070); excluded: Joint stiffness (HP:0001387); excluded: Autism (HP:0000717); excluded: Aggressive behavior (HP:0000718); excluded: Developmental regression (HP:0002376); excluded: Hypertonia (HP:0001276); excluded: Dystonia (HP:0001332); excluded: Abnormal reflex (HP:0031826); excluded: Gait disturbance (HP:0001288); excluded: Skeletal muscle atrophy (HP:0003202); excluded: Asthenia (HP:0025406); excluded: Cerebral visual impairment (HP:0100704); excluded: Optic atrophy (HP:0000648); excluded: Nystagmus (HP:0000639); excluded: Hearing impairment (HP:0000365)
P5 (MALE; )EZH1-related neurodevelopmental disorder (OMIM:601674)NM_001991.5:c.2182A>G (heterozygous)Joint stiffness (HP:0001387); Abnormal repetitive mannerisms (HP:0000733); Aggressive behavior (HP:0000718); Self-injurious behavior (HP:0100716); Delayed gross motor development (HP:0002194); Delayed fine motor development (HP:0010862); Delayed speech and language development (HP:0000750); Impaired social interactions (HP:0000735); Intellectual disability (HP:0001249); Hypertonia (HP:0001276); Hypotonia (HP:0001252); Hyperreflexia (HP:0001347); Dysmetria (HP:0001310); Tremor (HP:0001337); Gait ataxia (HP:0002066); Esotropia (HP:0000565); Macrocephaly (HP:0000256); Coarse facial features (HP:0000280); Deeply set eye (HP:0000490); Short philtrum (HP:0000322); Open mouth (HP:0000194); Eclabion (HP:0012472); Mandibular prognathia (HP:0000303); excluded: Developmental regression (HP:0002376); excluded: Hypotonia (HP:0001252); excluded: Dystonia (HP:0001332); excluded: Dysmetria (HP:0001310); excluded: Tremor (HP:0001337); excluded: Skeletal muscle atrophy (HP:0003202); excluded: Cerebral visual impairment (HP:0100704); excluded: Optic atrophy (HP:0000648); excluded: Nystagmus (HP:0000639); excluded: Ventriculomegaly (HP:0002119); excluded: Hearing impairment (HP:0000365)
P6 (FEMALE; )EZH1-related neurodevelopmental disorder (OMIM:601674)NM_001991.5:c.2182A>G (heterozygous)Aggressive behavior (HP:0000718); Seizure (HP:0001250); Delayed gross motor development (HP:0002194); Delayed fine motor development (HP:0010862); Delayed speech and language development (HP:0000750); Intellectual disability (HP:0001249); Hypotonia (HP:0001252); Clumsiness (HP:0002312); Dysmetria (HP:0001310); Drooling (HP:0002307); Pes planus (HP:0001763); Hypoglycemia (HP:0001943); excluded: Joint stiffness (HP:0001387); excluded: Autism (HP:0000717); excluded: Developmental regression (HP:0002376); excluded: Hypertonia (HP:0001276); excluded: Dystonia (HP:0001332); excluded: Abnormal reflex (HP:0031826); excluded: Clumsiness (HP:0002312); excluded: Skeletal muscle atrophy (HP:0003202); excluded: Cerebral visual impairment (HP:0100704); excluded: Optic atrophy (HP:0000648); excluded: Nystagmus (HP:0000639); excluded: Ventriculomegaly (HP:0002119); excluded: Hearing impairment (HP:0000365)
P7 (MALE; )EZH1-related neurodevelopmental disorder (OMIM:601674)NM_001991.5:c.2191C>G (heterozygous)Autism (HP:0000717); Delayed gross motor development (HP:0002194); Delayed fine motor development (HP:0010862); Delayed speech and language development (HP:0000750); Delayed early-childhood social milestone development (HP:0012434); Intellectual disability (HP:0001249); Hypoplastic nasal bridge (HP:0005281); Thick eyebrow (HP:0000574); Midface retrusion (HP:0011800); Prominent fingertip pads (HP:0001212); excluded: Joint stiffness (HP:0001387); excluded: Developmental regression (HP:0002376); excluded: Hypertonia (HP:0001276); excluded: Hypotonia (HP:0001252); excluded: Dystonia (HP:0001332); excluded: Abnormal reflex (HP:0031826); excluded: Postural instability (HP:0002172); excluded: Dysmetria (HP:0001310); excluded: Gait disturbance (HP:0001288); excluded: Skeletal muscle atrophy (HP:0003202); excluded: Cerebral visual impairment (HP:0100704); excluded: Optic atrophy (HP:0000648); excluded: Nystagmus (HP:0000639); excluded: Hearing impairment (HP:0000365)
P8 (MALE; )EZH1-related neurodevelopmental disorder (OMIM:601674)NM_001991.5:c.2203C>T (heterozygous)Aggressive behavior (HP:0000718); Delayed fine motor development (HP:0010862); Delayed speech and language development (HP:0000750); Intellectual disability (HP:0001249); Hypotonia (HP:0001252); Delayed ability to walk (HP:0031936); Lateral ventricle dilatation (HP:0006956); Reduced cerebral white matter volume (HP:0034295); High forehead (HP:0000348); Infra-orbital crease (HP:0100876); Short nose (HP:0003196); Limb undergrowth (HP:0009826); Thin corpus callosum (HP:0033725); Hypoplastic optic chiasm (HP:0034311); excluded: Joint stiffness (HP:0001387); excluded: Autism (HP:0000717); excluded: Developmental regression (HP:0002376); excluded: Delayed early-childhood social milestone development (HP:0012434); excluded: Hypertonia (HP:0001276); excluded: Dystonia (HP:0001332); excluded: Abnormal reflex (HP:0031826); excluded: Postural instability (HP:0002172); excluded: Dysmetria (HP:0001310); excluded: Skeletal muscle atrophy (HP:0003202); excluded: Cerebral visual impairment (HP:0100704); excluded: Optic atrophy (HP:0000648); excluded: Nystagmus (HP:0000639); excluded: Hearing impairment (HP:0000365)
P9 (FEMALE; )EZH1-related neurodevelopmental disorder (OMIM:601674)NM_001991.5:c.2203C>T (heterozygous)Joint stiffness (HP:0001387); Autism (HP:0000717); Developmental regression (HP:0002376); Delayed gross motor development (HP:0002194); Delayed fine motor development (HP:0010862); Absent speech (HP:0001344); Delayed early-childhood social milestone development (HP:0012434); Intellectual disability (HP:0001249); Postural instability (HP:0002172); Tip-toe gait (HP:0030051); Cerebral visual impairment (HP:0100704); Optic atrophy (HP:0000648); Ventriculomegaly (HP:0002119); Macrocephaly (HP:0000256); Plagiocephaly (HP:0001357); Exotropia (HP:0000577); Telecanthus (HP:0000506); Hypertelorism (HP:0000316); Horizontal nystagmus (HP:0000666); Overfolded helix (HP:0000396); Concave nasal ridge (HP:0011120); Flat face (HP:0012368); Mandibular prognathia (HP:0000303); Pericardial effusion (HP:0001698); Pericarditis (HP:0001701); Hearing impairment (HP:0000365); Septo-optic dysplasia (HP:0100842); excluded: Autism (HP:0000717); excluded: Aggressive behavior (HP:0000718); excluded: Hypertonia (HP:0001276); excluded: Hypotonia (HP:0001252); excluded: Dystonia (HP:0001332); excluded: Tip-toe gait (HP:0030051); excluded: Ventriculomegaly (HP:0002119)
P10 (MALE; )EZH1-related neurodevelopmental disorder (OMIM:601674)NM_001991.5:c.772C>T (homozygous)Aggressive behavior (HP:0000718); Delayed gross motor development (HP:0002194); Delayed fine motor development (HP:0010862); Delayed speech and language development (HP:0000750); Delayed early-childhood social milestone development (HP:0012434); Intellectual disability (HP:0001249); Postural instability (HP:0002172); Dysmetria (HP:0001310); Broad-based gait (HP:0002136); Skeletal muscle atrophy (HP:0003202); Microcephaly (HP:0000252); Long face (HP:0000276); Thick vermilion border (HP:0012471); Microtia (HP:0008551); Prominent nasal tip (HP:0005274); Pectus carinatum (HP:0000768); excluded: Joint stiffness (HP:0001387); excluded: Autism (HP:0000717); excluded: Developmental regression (HP:0002376); excluded: Hypertonia (HP:0001276); excluded: Hypotonia (HP:0001252); excluded: Dystonia (HP:0001332); excluded: Abnormal reflex (HP:0031826); excluded: Cerebral visual impairment (HP:0100704); excluded: Nystagmus (HP:0000639); excluded: Hearing impairment (HP:0000365)
P11 (FEMALE; )EZH1-related neurodevelopmental disorder (OMIM:601674)NM_001991.5:c.772C>T (homozygous)Aggressive behavior (HP:0000718); Delayed gross motor development (HP:0002194); Delayed fine motor development (HP:0010862); Delayed speech and language development (HP:0000750); Delayed early-childhood social milestone development (HP:0012434); Intellectual disability (HP:0001249); Postural instability (HP:0002172); Dysmetria (HP:0001310); Broad-based gait (HP:0002136); Microcephaly (HP:0000252); Long face (HP:0000276); Thick vermilion border (HP:0012471); Microtia (HP:0008551); Prominent nasal tip (HP:0005274); excluded: Joint stiffness (HP:0001387); excluded: Autism (HP:0000717); excluded: Developmental regression (HP:0002376); excluded: Hypertonia (HP:0001276); excluded: Hypotonia (HP:0001252); excluded: Dystonia (HP:0001332); excluded: Abnormal reflex (HP:0031826); excluded: Skeletal muscle atrophy (HP:0003202); excluded: Cerebral visual impairment (HP:0100704); excluded: Nystagmus (HP:0000639); excluded: Hearing impairment (HP:0000365)
P12 (FEMALE; )EZH1-related neurodevelopmental disorder (OMIM:601674)
  • NM_001991.5:c.1401+3_1403del (heterozygous)
  • NM_001991.5:c.664+2_665-1del (heterozygous)
Delayed fine motor development (HP:0010862); Delayed speech and language development (HP:0000750); Intellectual disability (HP:0001249); Hypotonia (HP:0001252); Postural instability (HP:0002172); Delayed ability to walk (HP:0031936); Hyperalbuminemia (HP:0012117); excluded: Joint stiffness (HP:0001387); excluded: Autism (HP:0000717); excluded: Aggressive behavior (HP:0000718); excluded: Developmental regression (HP:0002376); excluded: Delayed early-childhood social milestone development (HP:0012434); excluded: Hypertonia (HP:0001276); excluded: Dystonia (HP:0001332); excluded: Abnormal reflex (HP:0031826); excluded: Dysmetria (HP:0001310); excluded: Gait disturbance (HP:0001288); excluded: Skeletal muscle atrophy (HP:0003202); excluded: Cerebral visual impairment (HP:0100704); excluded: Optic atrophy (HP:0000648); excluded: Nystagmus (HP:0000639); excluded: Hearing impairment (HP:0000365)
P13 (FEMALE; )EZH1-related neurodevelopmental disorder (OMIM:601674)NM_001991.5:c.1453G>T (homozygous)Delayed gross motor development (HP:0002194); Delayed fine motor development (HP:0010862); Delayed speech and language development (HP:0000750); Intellectual disability (HP:0001249); Gait disturbance (HP:0001288); Cerebral white matter atrophy (HP:0012762); excluded: Joint stiffness (HP:0001387); excluded: Developmental regression (HP:0002376); excluded: Hypertonia (HP:0001276); excluded: Hypotonia (HP:0001252); excluded: Dystonia (HP:0001332); excluded: Abnormal reflex (HP:0031826); excluded: Dysmetria (HP:0001310); excluded: Gait disturbance (HP:0001288); excluded: Skeletal muscle atrophy (HP:0003202); excluded: Hearing impairment (HP:0000365)
P3 (MALE; )EZH1-related neurodevelopmental disorder (OMIM:601674)NM_001991.5:c.1835A>T (heterozygous)Delayed gross motor development (HP:0002194); Appendicular hypotonia (HP:0012389); Hyporeflexia (HP:0001265); Delayed fine motor development (HP:0010862); Weak grip (HP:0033466); Delayed speech and language development (HP:0000750); Intellectual disability (HP:0001249); Clonus (HP:0002169); Postural instability (HP:0002172); Gait ataxia (HP:0002066); Abnormal facial shape (HP:0001999); Trigonocephaly (HP:0000243); Downslanted palpebral fissures (HP:0000494); Thin upper lip vermilion (HP:0000219); Prominent metopic ridge (HP:0005487); Normocytic anemia (HP:0001897); excluded: Joint stiffness (HP:0001387); excluded: Skeletal muscle atrophy (HP:0003202); excluded: Autism (HP:0000717); excluded: Aggressive behavior (HP:0000718); excluded: Hearing impairment (HP:0000365)
P4 (MALE; )EZH1-related neurodevelopmental disorder (OMIM:601674)NM_001991.5:c.2033C>G (heterozygous)Delayed fine motor development (HP:0010862); Absent speech (HP:0001344); Delayed early-childhood social milestone development (HP:0012434); Intellectual disability (HP:0001249); Axial hypotonia (HP:0008936); Dystonia (HP:0001332); Postural instability (HP:0002172); Delayed ability to walk (HP:0031936); Asthenia (HP:0025406); Reduced cerebral white matter volume (HP:0034295); Frontal bossing (HP:0002007); Mandibular prognathia (HP:0000303); Midface retrusion (HP:0011800); Deeply set eye (HP:0000490); Downturned corners of mouth (HP:0002714); Widely spaced teeth (HP:0000687); Sparse hair (HP:0008070); excluded: Joint stiffness (HP:0001387); excluded: Skeletal muscle atrophy (HP:0003202); excluded: Aggressive behavior (HP:0000718); excluded: Developmental regression (HP:0002376); excluded: Hypertonia (HP:0001276); excluded: Cerebral visual impairment (HP:0100704); excluded: Optic atrophy (HP:0000648); excluded: Nystagmus (HP:0000639); excluded: Hearing impairment (HP:0000365)
P5 (MALE; )EZH1-related neurodevelopmental disorder (OMIM:601674)NM_001991.5:c.2182A>G (heterozygous)Aggressive behavior (HP:0000718); Gait ataxia (HP:0002066); Delayed gross motor development (HP:0002194); Hypertonia (HP:0001276); Dysmetria (HP:0001310); Open mouth (HP:0000194); Intellectual disability (HP:0001249); Joint stiffness (HP:0001387); Hyperreflexia (HP:0001347); Hypotonia (HP:0001252); Deeply set eye (HP:0000490); Self-injurious behavior (HP:0100716); Abnormal repetitive mannerisms (HP:0000733); Eclabion (HP:0012472); Impaired social interactions (HP:0000735); Esotropia (HP:0000565); Short philtrum (HP:0000322); Delayed speech and language development (HP:0000750); Coarse facial features (HP:0000280); Macrocephaly (HP:0000256); Tremor (HP:0001337); Delayed fine motor development (HP:0010862); Mandibular prognathia (HP:0000303); excluded: Developmental regression (HP:0002376); excluded: Hearing impairment (HP:0000365); excluded: Ventriculomegaly (HP:0002119); excluded: Nystagmus (HP:0000639); excluded: Dystonia (HP:0001332); excluded: Skeletal muscle atrophy (HP:0003202); excluded: Cerebral visual impairment (HP:0100704)
P6 (FEMALE; )EZH1-related neurodevelopmental disorder (OMIM:601674)NM_001991.5:c.2182A>G (heterozygous)Aggressive behavior (HP:0000718); Hypotonia (HP:0001252); Delayed gross motor development (HP:0002194); Drooling (HP:0002307); Pes planus (HP:0001763); Hypoglycemia (HP:0001943); Dysmetria (HP:0001310); Seizure (HP:0001250); Delayed fine motor development (HP:0010862); Intellectual disability (HP:0001249); Delayed speech and language development (HP:0000750); Clumsiness (HP:0002312); excluded: Joint stiffness (HP:0001387); excluded: Autism (HP:0000717); excluded: Developmental regression (HP:0002376); excluded: Hypertonia (HP:0001276); excluded: Dystonia (HP:0001332); excluded: Skeletal muscle atrophy (HP:0003202); excluded: Cerebral visual impairment (HP:0100704); excluded: Optic atrophy (HP:0000648); excluded: Nystagmus (HP:0000639); excluded: Ventriculomegaly (HP:0002119); excluded: Hearing impairment (HP:0000365)
P7 (MALE; )EZH1-related neurodevelopmental disorder (OMIM:601674)NM_001991.5:c.2191C>G (heterozygous)Autism (HP:0000717); Delayed gross motor development (HP:0002194); Delayed fine motor development (HP:0010862); Delayed speech and language development (HP:0000750); Delayed early-childhood social milestone development (HP:0012434); Intellectual disability (HP:0001249); Hypoplastic nasal bridge (HP:0005281); Thick eyebrow (HP:0000574); Midface retrusion (HP:0011800); Prominent fingertip pads (HP:0001212); excluded: Joint stiffness (HP:0001387); excluded: Developmental regression (HP:0002376); excluded: Hypertonia (HP:0001276); excluded: Hypotonia (HP:0001252); excluded: Dystonia (HP:0001332); excluded: Dysmetria (HP:0001310); excluded: Gait disturbance (HP:0001288); excluded: Skeletal muscle atrophy (HP:0003202); excluded: Cerebral visual impairment (HP:0100704); excluded: Optic atrophy (HP:0000648); excluded: Nystagmus (HP:0000639); excluded: Hearing impairment (HP:0000365)
P8 (MALE; )EZH1-related neurodevelopmental disorder (OMIM:601674)NM_001991.5:c.2203C>T (heterozygous)Aggressive behavior (HP:0000718); Hypotonia (HP:0001252); Reduced cerebral white matter volume (HP:0034295); Infra-orbital crease (HP:0100876); Limb undergrowth (HP:0009826); Lateral ventricle dilatation (HP:0006956); High forehead (HP:0000348); Hypoplastic optic chiasm (HP:0034311); Delayed fine motor development (HP:0010862); Intellectual disability (HP:0001249); Short nose (HP:0003196); Delayed speech and language development (HP:0000750); Thin corpus callosum (HP:0033725); Delayed ability to walk (HP:0031936); excluded: Joint stiffness (HP:0001387); excluded: Autism (HP:0000717); excluded: Developmental regression (HP:0002376); excluded: Delayed early-childhood social milestone development (HP:0012434); excluded: Hypertonia (HP:0001276); excluded: Dystonia (HP:0001332); excluded: Dysmetria (HP:0001310); excluded: Skeletal muscle atrophy (HP:0003202); excluded: Cerebral visual impairment (HP:0100704); excluded: Optic atrophy (HP:0000648); excluded: Nystagmus (HP:0000639); excluded: Hearing impairment (HP:0000365)
P9 (FEMALE; )EZH1-related neurodevelopmental disorder (OMIM:601674)NM_001991.5:c.2203C>T (heterozygous)Joint stiffness (HP:0001387); Autism (HP:0000717); Developmental regression (HP:0002376); Delayed gross motor development (HP:0002194); Delayed fine motor development (HP:0010862); Absent speech (HP:0001344); Delayed early-childhood social milestone development (HP:0012434); Intellectual disability (HP:0001249); Postural instability (HP:0002172); Tip-toe gait (HP:0030051); Cerebral visual impairment (HP:0100704); Optic atrophy (HP:0000648); Macrocephaly (HP:0000256); Plagiocephaly (HP:0001357); Exotropia (HP:0000577); Telecanthus (HP:0000506); Hypertelorism (HP:0000316); Horizontal nystagmus (HP:0000666); Overfolded helix (HP:0000396); Concave nasal ridge (HP:0011120); Flat face (HP:0012368); Mandibular prognathia (HP:0000303); Pericardial effusion (HP:0001698); Pericarditis (HP:0001701); Hearing impairment (HP:0000365); Septo-optic dysplasia (HP:0100842); excluded: Aggressive behavior (HP:0000718); excluded: Hypertonia (HP:0001276); excluded: Hypotonia (HP:0001252); excluded: Dystonia (HP:0001332); excluded: Ventriculomegaly (HP:0002119)
P10 (MALE; )EZH1-related neurodevelopmental disorder (OMIM:601674)NM_001991.5:c.772C>T (homozygous)Aggressive behavior (HP:0000718); Postural instability (HP:0002172); Delayed gross motor development (HP:0002194); Prominent nasal tip (HP:0005274); Long face (HP:0000276); Broad-based gait (HP:0002136); Skeletal muscle atrophy (HP:0003202); Microtia (HP:0008551); Microcephaly (HP:0000252); Dysmetria (HP:0001310); Pectus carinatum (HP:0000768); Delayed fine motor development (HP:0010862); Intellectual disability (HP:0001249); Delayed speech and language development (HP:0000750); Thick vermilion border (HP:0012471); Delayed early-childhood social milestone development (HP:0012434); excluded: Joint stiffness (HP:0001387); excluded: Autism (HP:0000717); excluded: Developmental regression (HP:0002376); excluded: Hypertonia (HP:0001276); excluded: Hypotonia (HP:0001252); excluded: Dystonia (HP:0001332); excluded: Cerebral visual impairment (HP:0100704); excluded: Nystagmus (HP:0000639); excluded: Hearing impairment (HP:0000365)
P11 (FEMALE; )EZH1-related neurodevelopmental disorder (OMIM:601674)NM_001991.5:c.772C>T (homozygous)Aggressive behavior (HP:0000718); Delayed gross motor development (HP:0002194); Delayed fine motor development (HP:0010862); Delayed speech and language development (HP:0000750); Delayed early-childhood social milestone development (HP:0012434); Intellectual disability (HP:0001249); Postural instability (HP:0002172); Dysmetria (HP:0001310); Broad-based gait (HP:0002136); Microcephaly (HP:0000252); Long face (HP:0000276); Thick vermilion border (HP:0012471); Microtia (HP:0008551); Prominent nasal tip (HP:0005274); excluded: Autism (HP:0000717); excluded: Hypotonia (HP:0001252); excluded: Developmental regression (HP:0002376); excluded: Hearing impairment (HP:0000365); excluded: Dystonia (HP:0001332); excluded: Nystagmus (HP:0000639); excluded: Skeletal muscle atrophy (HP:0003202); excluded: Cerebral visual impairment (HP:0100704); excluded: Joint stiffness (HP:0001387); excluded: Hypertonia (HP:0001276)
P12 (FEMALE; )EZH1-related neurodevelopmental disorder (OMIM:601674)
  • NM_001991.5:c.1401+3_1403del (heterozygous)
  • NM_001991.5:c.664+2_665-1del (heterozygous)
Delayed fine motor development (HP:0010862); Delayed speech and language development (HP:0000750); Intellectual disability (HP:0001249); Hypotonia (HP:0001252); Postural instability (HP:0002172); Delayed ability to walk (HP:0031936); Hyperalbuminemia (HP:0012117); excluded: Autism (HP:0000717); excluded: Optic atrophy (HP:0000648); excluded: Developmental regression (HP:0002376); excluded: Hearing impairment (HP:0000365); excluded: Aggressive behavior (HP:0000718); excluded: Dysmetria (HP:0001310); excluded: Dystonia (HP:0001332); excluded: Nystagmus (HP:0000639); excluded: Skeletal muscle atrophy (HP:0003202); excluded: Cerebral visual impairment (HP:0100704); excluded: Joint stiffness (HP:0001387); excluded: Hypertonia (HP:0001276)
P13 (FEMALE; )EZH1-related neurodevelopmental disorder (OMIM:601674)NM_001991.5:c.1453G>T (homozygous)Delayed gross motor development (HP:0002194); Delayed fine motor development (HP:0010862); Delayed speech and language development (HP:0000750); Intellectual disability (HP:0001249); Gait disturbance (HP:0001288); Cerebral white matter atrophy (HP:0012762); excluded: Joint stiffness (HP:0001387); excluded: Developmental regression (HP:0002376); excluded: Hypertonia (HP:0001276); excluded: Hypotonia (HP:0001252); excluded: Dystonia (HP:0001332); excluded: Dysmetria (HP:0001310); excluded: Skeletal muscle atrophy (HP:0003202); excluded: Hearing impairment (HP:0000365)
P14 (FEMALE; )EZH1-related neurodevelopmental disorder (OMIM:601674)NM_001991.5:c.1453G>T (homozygous)Seizure (HP:0001250); Delayed gross motor development (HP:0002194); Delayed fine motor development (HP:0010862); Delayed speech and language development (HP:0000750); Intellectual disability (HP:0001249); Bowing of the legs (HP:0002979); excluded: Joint stiffness (HP:0001387); excluded: Developmental regression (HP:0002376); excluded: Skeletal muscle atrophy (HP:0003202); excluded: Hearing impairment (HP:0000365)
P15 (FEMALE; )EZH1-related neurodevelopmental disorder (OMIM:601674)NM_001991.5:c.1453G>T (homozygous)Delayed gross motor development (HP:0002194); Delayed fine motor development (HP:0010862); Delayed speech and language development (HP:0000750); Intellectual disability (HP:0001249); Cerebral white matter atrophy (HP:0012762); excluded: Joint stiffness (HP:0001387); excluded: Developmental regression (HP:0002376); excluded: Hypertonia (HP:0001276); excluded: Hypotonia (HP:0001252); excluded: Dystonia (HP:0001332); excluded: Abnormal reflex (HP:0031826); excluded: Dysmetria (HP:0001310); excluded: Skeletal muscle atrophy (HP:0003202); excluded: Hearing impairment (HP:0000365)
P15 (FEMALE; )EZH1-related neurodevelopmental disorder (OMIM:601674)NM_001991.5:c.1453G>T (homozygous)Delayed gross motor development (HP:0002194); Delayed fine motor development (HP:0010862); Delayed speech and language development (HP:0000750); Intellectual disability (HP:0001249); Cerebral white matter atrophy (HP:0012762); excluded: Joint stiffness (HP:0001387); excluded: Developmental regression (HP:0002376); excluded: Hypertonia (HP:0001276); excluded: Hypotonia (HP:0001252); excluded: Dystonia (HP:0001332); excluded: Dysmetria (HP:0001310); excluded: Skeletal muscle atrophy (HP:0003202); excluded: Hearing impairment (HP:0000365)
P16 (MALE; )EZH1-related neurodevelopmental disorder (OMIM:601674)NM_001991.5:c.1453G>T (homozygous)Delayed gross motor development (HP:0002194); Delayed fine motor development (HP:0010862); Delayed speech and language development (HP:0000750); Intellectual disability (HP:0001249); excluded: Joint stiffness (HP:0001387); excluded: Developmental regression (HP:0002376); excluded: Skeletal muscle atrophy (HP:0003202); excluded: Hearing impairment (HP:0000365)
P17 new branch of P13-14) (FEMALE; )EZH1-related neurodevelopmental disorder (OMIM:601674)NM_001991.5:c.1453G>T (homozygous)Delayed gross motor development (HP:0002194); Delayed fine motor development (HP:0010862); Delayed speech and language development (HP:0000750); Delayed early-childhood social milestone development (HP:0012434); Intellectual disability (HP:0001249); Hypotonia (HP:0001252); Hyporeflexia (HP:0001265); Broad forehead (HP:0000337); Hypertelorism (HP:0000316); Depressed nasal bridge (HP:0005280); excluded: Joint stiffness (HP:0001387); excluded: Autism (HP:0000717); excluded: Aggressive behavior (HP:0000718); excluded: Developmental regression (HP:0002376); excluded: Hypertonia (HP:0001276); excluded: Dystonia (HP:0001332); excluded: Postural instability (HP:0002172); excluded: Dysmetria (HP:0001310); excluded: Gait disturbance (HP:0001288); excluded: Skeletal muscle atrophy (HP:0003202); excluded: Cerebral visual impairment (HP:0100704); excluded: Optic atrophy (HP:0000648); excluded: Nystagmus (HP:0000639); excluded: Ventriculomegaly (HP:0002119); excluded: Hearing impairment (HP:0000365); excluded: Anemia (HP:0001903)
P18 (FEMALE; )EZH1-related neurodevelopmental disorder (OMIM:601674)NM_001991.5:c.1453G>T (homozygous)Delayed gross motor development (HP:0002194); Delayed fine motor development (HP:0010862); Delayed speech and language development (HP:0000750); Delayed early-childhood social milestone development (HP:0012434); Hypotonia (HP:0001252); Postural instability (HP:0002172); Dysmetria (HP:0001310); Unsteady gait (HP:0002317); Hypertelorism (HP:0000316); Thick vermilion border (HP:0012471); Protruding ear (HP:0000411); excluded: Joint stiffness (HP:0001387); excluded: Autism (HP:0000717); excluded: Aggressive behavior (HP:0000718); excluded: Developmental regression (HP:0002376); excluded: Hypertonia (HP:0001276); excluded: Dystonia (HP:0001332); excluded: Abnormal reflex (HP:0031826); excluded: Skeletal muscle atrophy (HP:0003202); excluded: Cerebral visual impairment (HP:0100704); excluded: Optic atrophy (HP:0000648); excluded: Nystagmus (HP:0000639); excluded: Ventriculomegaly (HP:0002119); excluded: Hearing impairment (HP:0000365)
P19 (New patient) (MALE; )EZH1-related neurodevelopmental disorder (OMIM:601674)NM_001991.5:c.1237C>T (homozygous)Autism (HP:0000717); Aggressive behavior (HP:0000718); Delayed gross motor development (HP:0002194); Delayed fine motor development (HP:0010862); Delayed speech and language development (HP:0000750); Delayed early-childhood social milestone development (HP:0012434); Intellectual disability (HP:0001249); Hypertonia (HP:0001276); Hypotonia (HP:0001252); Dystonia (HP:0001332); excluded: Joint stiffness (HP:0001387); excluded: Developmental regression (HP:0002376); excluded: Skeletal muscle atrophy (HP:0003202); excluded: Cerebral visual impairment (HP:0100704); excluded: Optic atrophy (HP:0000648); excluded: Nystagmus (HP:0000639); excluded: Ventriculomegaly (HP:0002119); excluded: Hearing impairment (HP:0000365); excluded: Anemia (HP:0001903)
P17 new branch of P13-14) (FEMALE; )EZH1-related neurodevelopmental disorder (OMIM:601674)NM_001991.5:c.1453G>T (homozygous)Delayed gross motor development (HP:0002194); Delayed fine motor development (HP:0010862); Delayed speech and language development (HP:0000750); Delayed early-childhood social milestone development (HP:0012434); Intellectual disability (HP:0001249); Hypotonia (HP:0001252); Hyporeflexia (HP:0001265); Broad forehead (HP:0000337); Hypertelorism (HP:0000316); Depressed nasal bridge (HP:0005280); excluded: Joint stiffness (HP:0001387); excluded: Autism (HP:0000717); excluded: Aggressive behavior (HP:0000718); excluded: Developmental regression (HP:0002376); excluded: Hypertonia (HP:0001276); excluded: Dystonia (HP:0001332); excluded: Dysmetria (HP:0001310); excluded: Gait disturbance (HP:0001288); excluded: Skeletal muscle atrophy (HP:0003202); excluded: Cerebral visual impairment (HP:0100704); excluded: Optic atrophy (HP:0000648); excluded: Nystagmus (HP:0000639); excluded: Hearing impairment (HP:0000365); excluded: Anemia (HP:0001903)
P18 (FEMALE; )EZH1-related neurodevelopmental disorder (OMIM:601674)NM_001991.5:c.1453G>T (homozygous)Delayed gross motor development (HP:0002194); Delayed fine motor development (HP:0010862); Delayed speech and language development (HP:0000750); Delayed early-childhood social milestone development (HP:0012434); Hypotonia (HP:0001252); Postural instability (HP:0002172); Dysmetria (HP:0001310); Unsteady gait (HP:0002317); Hypertelorism (HP:0000316); Thick vermilion border (HP:0012471); Protruding ear (HP:0000411); excluded: Joint stiffness (HP:0001387); excluded: Hypertonia (HP:0001276); excluded: Dystonia (HP:0001332); excluded: Skeletal muscle atrophy (HP:0003202); excluded: Cerebral visual impairment (HP:0100704); excluded: Optic atrophy (HP:0000648); excluded: Nystagmus (HP:0000639); excluded: Ventriculomegaly (HP:0002119); excluded: Hearing impairment (HP:0000365)
P19 (New patient) (MALE; )EZH1-related neurodevelopmental disorder (OMIM:601674)NM_001991.5:c.1237C>T (homozygous)Autism (HP:0000717); Aggressive behavior (HP:0000718); Delayed gross motor development (HP:0002194); Delayed fine motor development (HP:0010862); Delayed speech and language development (HP:0000750); Delayed early-childhood social milestone development (HP:0012434); Intellectual disability (HP:0001249); Hypertonia (HP:0001276); Hypotonia (HP:0001252); Dystonia (HP:0001332); excluded: Developmental regression (HP:0002376); excluded: Skeletal muscle atrophy (HP:0003202); excluded: Optic atrophy (HP:0000648); excluded: Joint stiffness (HP:0001387)
" ], "text/plain": [ @@ -1726,14 +1708,13 @@ } ], "source": [ - "ppacket_list = [i.to_ga4gh_phenopacket(metadata=metadata.to_ga4gh()) for i in individual_list]\n", - "table = PhenopacketTable(phenopacket_list=ppacket_list)\n", + "table = PhenopacketTable(individual_list=individual_list, metadata=metadata)\n", "display(HTML(table.to_html()))" ] }, { "cell_type": "code", - "execution_count": 51, + "execution_count": 50, "id": "65b0cbd7", "metadata": {}, "outputs": [ @@ -1754,7 +1735,7 @@ }, { "cell_type": "code", - "execution_count": null, + "execution_count": 51, "id": "cb47bcdf", "metadata": {}, "outputs": [], diff --git a/notebooks/EZH1/phenopackets/PMID_37433783_P1.json b/notebooks/EZH1/phenopackets/PMID_37433783_P1.json index 5cd2411f1..5d76f1cbe 100644 --- a/notebooks/EZH1/phenopackets/PMID_37433783_P1.json +++ b/notebooks/EZH1/phenopackets/PMID_37433783_P1.json @@ -77,13 +77,6 @@ "label": "Scoliosis" } }, - { - "type": { - "id": "HP:0030834", - "label": "Shoulder pain" - }, - "excluded": true - }, { "type": { "id": "HP:0000717", @@ -93,92 +86,92 @@ }, { "type": { - "id": "HP:0002376", - "label": "Developmental regression" + "id": "HP:0001252", + "label": "Hypotonia" }, "excluded": true }, { "type": { - "id": "HP:0001276", - "label": "Hypertonia" + "id": "HP:0002172", + "label": "Postural instability" }, "excluded": true }, { "type": { - "id": "HP:0001252", - "label": "Hypotonia" + "id": "HP:0002376", + "label": "Developmental regression" }, "excluded": true }, { "type": { - "id": "HP:0001332", - "label": "Dystonia" + "id": "HP:0000648", + "label": "Optic atrophy" }, "excluded": true }, { "type": { - "id": "HP:0031826", - "label": "Abnormal reflex" + "id": "HP:0000365", + "label": "Hearing impairment" }, "excluded": true }, { "type": { - "id": "HP:0002172", - "label": "Postural instability" + "id": "HP:0001310", + "label": "Dysmetria" }, "excluded": true }, { "type": { - "id": "HP:0001310", - "label": "Dysmetria" + "id": "HP:0001332", + "label": "Dystonia" }, "excluded": true }, { "type": { - "id": "HP:0001288", - "label": "Gait disturbance" + "id": "HP:0031826", + "label": "Abnormal reflex" }, "excluded": true }, { "type": { - "id": "HP:0003202", - "label": "Skeletal muscle atrophy" + "id": "HP:0000639", + "label": "Nystagmus" }, "excluded": true }, { "type": { - "id": "HP:0100704", - "label": "Cerebral visual impairment" + "id": "HP:0003202", + "label": "Skeletal muscle atrophy" }, "excluded": true }, { "type": { - "id": "HP:0000648", - "label": "Optic atrophy" + "id": "HP:0001288", + "label": "Gait disturbance" }, "excluded": true }, { "type": { - "id": "HP:0000639", - "label": "Nystagmus" + "id": "HP:0100704", + "label": "Cerebral visual impairment" }, "excluded": true }, { "type": { - "id": "HP:0000365", - "label": "Hearing impairment" + "id": "HP:0001276", + "label": "Hypertonia" }, "excluded": true } @@ -198,7 +191,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { - "id": "var_prvDFILOPxkMRZLzsRJsNGqYu", + "id": "var_nBucyHGKWGljUqcxQZwrMDfll", "geneContext": { "valueId": "HGNC:3526", "symbol": "EZH1" @@ -233,7 +226,7 @@ } ], "metaData": { - "created": "2023-11-25T07:14:09.439437150Z", + "created": "2023-11-29T09:30:58.387803792Z", "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { diff --git a/notebooks/EZH1/phenopackets/PMID_37433783_P10.json b/notebooks/EZH1/phenopackets/PMID_37433783_P10.json index ecbf943e7..4359afa25 100644 --- a/notebooks/EZH1/phenopackets/PMID_37433783_P10.json +++ b/notebooks/EZH1/phenopackets/PMID_37433783_P10.json @@ -13,92 +13,92 @@ }, { "type": { - "id": "HP:0002194", - "label": "Delayed gross motor development" + "id": "HP:0002172", + "label": "Postural instability" } }, { "type": { - "id": "HP:0010862", - "label": "Delayed fine motor development" + "id": "HP:0002194", + "label": "Delayed gross motor development" } }, { "type": { - "id": "HP:0000750", - "label": "Delayed speech and language development" + "id": "HP:0005274", + "label": "Prominent nasal tip" } }, { "type": { - "id": "HP:0012434", - "label": "Delayed early-childhood social milestone development" + "id": "HP:0000276", + "label": "Long face" } }, { "type": { - "id": "HP:0001249", - "label": "Intellectual disability" + "id": "HP:0002136", + "label": "Broad-based gait" } }, { "type": { - "id": "HP:0002172", - "label": "Postural instability" + "id": "HP:0003202", + "label": "Skeletal muscle atrophy" } }, { "type": { - "id": "HP:0001310", - "label": "Dysmetria" + "id": "HP:0008551", + "label": "Microtia" } }, { "type": { - "id": "HP:0002136", - "label": "Broad-based gait" + "id": "HP:0000252", + "label": "Microcephaly" } }, { "type": { - "id": "HP:0003202", - "label": "Skeletal muscle atrophy" + "id": "HP:0001310", + "label": "Dysmetria" } }, { "type": { - "id": "HP:0000252", - "label": "Microcephaly" + "id": "HP:0000768", + "label": "Pectus carinatum" } }, { "type": { - "id": "HP:0000276", - "label": "Long face" + "id": "HP:0010862", + "label": "Delayed fine motor development" } }, { "type": { - "id": "HP:0012471", - "label": "Thick vermilion border" + "id": "HP:0001249", + "label": "Intellectual disability" } }, { "type": { - "id": "HP:0008551", - "label": "Microtia" + "id": "HP:0000750", + "label": "Delayed speech and language development" } }, { "type": { - "id": "HP:0005274", - "label": "Prominent nasal tip" + "id": "HP:0012471", + "label": "Thick vermilion border" } }, { "type": { - "id": "HP:0000768", - "label": "Pectus carinatum" + "id": "HP:0012434", + "label": "Delayed early-childhood social milestone development" } }, { @@ -143,13 +143,6 @@ }, "excluded": true }, - { - "type": { - "id": "HP:0031826", - "label": "Abnormal reflex" - }, - "excluded": true - }, { "type": { "id": "HP:0100704", @@ -187,7 +180,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { - "id": "var_vZnmVYitTIxtswOmndqBKqymO", + "id": "var_qmErmLbkTxxsXstlBRdbTUFQW", "geneContext": { "valueId": "HGNC:3526", "symbol": "EZH1" @@ -222,7 +215,7 @@ } ], "metaData": { - "created": "2023-11-25T07:14:09.500533103Z", + "created": "2023-11-29T09:30:58.457184076Z", "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { diff --git a/notebooks/EZH1/phenopackets/PMID_37433783_P11.json b/notebooks/EZH1/phenopackets/PMID_37433783_P11.json index 349c8d298..0bd939c7a 100644 --- a/notebooks/EZH1/phenopackets/PMID_37433783_P11.json +++ b/notebooks/EZH1/phenopackets/PMID_37433783_P11.json @@ -89,13 +89,6 @@ "label": "Prominent nasal tip" } }, - { - "type": { - "id": "HP:0001387", - "label": "Joint stiffness" - }, - "excluded": true - }, { "type": { "id": "HP:0000717", @@ -105,22 +98,22 @@ }, { "type": { - "id": "HP:0002376", - "label": "Developmental regression" + "id": "HP:0001252", + "label": "Hypotonia" }, "excluded": true }, { "type": { - "id": "HP:0001276", - "label": "Hypertonia" + "id": "HP:0002376", + "label": "Developmental regression" }, "excluded": true }, { "type": { - "id": "HP:0001252", - "label": "Hypotonia" + "id": "HP:0000365", + "label": "Hearing impairment" }, "excluded": true }, @@ -133,8 +126,8 @@ }, { "type": { - "id": "HP:0031826", - "label": "Abnormal reflex" + "id": "HP:0000639", + "label": "Nystagmus" }, "excluded": true }, @@ -154,15 +147,15 @@ }, { "type": { - "id": "HP:0000639", - "label": "Nystagmus" + "id": "HP:0001387", + "label": "Joint stiffness" }, "excluded": true }, { "type": { - "id": "HP:0000365", - "label": "Hearing impairment" + "id": "HP:0001276", + "label": "Hypertonia" }, "excluded": true } @@ -182,7 +175,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { - "id": "var_vZnmVYitTIxtswOmndqBKqymO", + "id": "var_qmErmLbkTxxsXstlBRdbTUFQW", "geneContext": { "valueId": "HGNC:3526", "symbol": "EZH1" @@ -217,7 +210,7 @@ } ], "metaData": { - "created": "2023-11-25T07:14:09.511334896Z", + "created": "2023-11-29T09:30:58.460205078Z", "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { diff --git a/notebooks/EZH1/phenopackets/PMID_37433783_P12.json b/notebooks/EZH1/phenopackets/PMID_37433783_P12.json index eab796c15..7f9ff1190 100644 --- a/notebooks/EZH1/phenopackets/PMID_37433783_P12.json +++ b/notebooks/EZH1/phenopackets/PMID_37433783_P12.json @@ -47,13 +47,6 @@ "label": "Hyperalbuminemia" } }, - { - "type": { - "id": "HP:0001387", - "label": "Joint stiffness" - }, - "excluded": true - }, { "type": { "id": "HP:0000717", @@ -63,8 +56,8 @@ }, { "type": { - "id": "HP:0000718", - "label": "Aggressive behavior" + "id": "HP:0000648", + "label": "Optic atrophy" }, "excluded": true }, @@ -77,43 +70,36 @@ }, { "type": { - "id": "HP:0012434", - "label": "Delayed early-childhood social milestone development" - }, - "excluded": true - }, - { - "type": { - "id": "HP:0001276", - "label": "Hypertonia" + "id": "HP:0000365", + "label": "Hearing impairment" }, "excluded": true }, { "type": { - "id": "HP:0001332", - "label": "Dystonia" + "id": "HP:0000718", + "label": "Aggressive behavior" }, "excluded": true }, { "type": { - "id": "HP:0031826", - "label": "Abnormal reflex" + "id": "HP:0001310", + "label": "Dysmetria" }, "excluded": true }, { "type": { - "id": "HP:0001310", - "label": "Dysmetria" + "id": "HP:0001332", + "label": "Dystonia" }, "excluded": true }, { "type": { - "id": "HP:0001288", - "label": "Gait disturbance" + "id": "HP:0000639", + "label": "Nystagmus" }, "excluded": true }, @@ -133,22 +119,15 @@ }, { "type": { - "id": "HP:0000648", - "label": "Optic atrophy" - }, - "excluded": true - }, - { - "type": { - "id": "HP:0000639", - "label": "Nystagmus" + "id": "HP:0001387", + "label": "Joint stiffness" }, "excluded": true }, { "type": { - "id": "HP:0000365", - "label": "Hearing impairment" + "id": "HP:0001276", + "label": "Hypertonia" }, "excluded": true } @@ -168,7 +147,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { - "id": "var_FcKVcCTYYTKgTxbxTpQkelchP", + "id": "var_FxozedmKZsrNeHByfzXAvkRDP", "geneContext": { "valueId": "HGNC:3526", "symbol": "EZH1" @@ -203,7 +182,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { - "id": "var_vVIUmLxzLKqXTEgdiRReSimlE", + "id": "var_dUwaEExsEZvvGXWUZCRMxuhoK", "geneContext": { "valueId": "HGNC:3526", "symbol": "EZH1" @@ -238,7 +217,7 @@ } ], "metaData": { - "created": "2023-11-25T07:14:09.516778945Z", + "created": "2023-11-29T09:30:58.462980031Z", "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { diff --git a/notebooks/EZH1/phenopackets/PMID_37433783_P13.json b/notebooks/EZH1/phenopackets/PMID_37433783_P13.json index 5ba1d1412..3191d23dc 100644 --- a/notebooks/EZH1/phenopackets/PMID_37433783_P13.json +++ b/notebooks/EZH1/phenopackets/PMID_37433783_P13.json @@ -76,13 +76,6 @@ }, "excluded": true }, - { - "type": { - "id": "HP:0031826", - "label": "Abnormal reflex" - }, - "excluded": true - }, { "type": { "id": "HP:0001310", @@ -90,13 +83,6 @@ }, "excluded": true }, - { - "type": { - "id": "HP:0001288", - "label": "Gait disturbance" - }, - "excluded": true - }, { "type": { "id": "HP:0003202", @@ -127,7 +113,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { - "id": "var_vsIMzDKCOoGzWolllJFVzbYTz", + "id": "var_mOMsGKYkiXHNiKAuthIZsZTYK", "geneContext": { "valueId": "HGNC:3526", "symbol": "EZH1" @@ -162,7 +148,7 @@ } ], "metaData": { - "created": "2023-11-25T07:14:09.523674011Z", + "created": "2023-11-29T09:30:58.465993881Z", "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { diff --git a/notebooks/EZH1/phenopackets/PMID_37433783_P14.json b/notebooks/EZH1/phenopackets/PMID_37433783_P14.json index 21c4c19b4..04499de01 100644 --- a/notebooks/EZH1/phenopackets/PMID_37433783_P14.json +++ b/notebooks/EZH1/phenopackets/PMID_37433783_P14.json @@ -85,7 +85,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { - "id": "var_vsIMzDKCOoGzWolllJFVzbYTz", + "id": "var_mOMsGKYkiXHNiKAuthIZsZTYK", "geneContext": { "valueId": "HGNC:3526", "symbol": "EZH1" @@ -120,7 +120,7 @@ } ], "metaData": { - "created": "2023-11-25T07:14:09.535418987Z", + "created": "2023-11-29T09:30:58.469050884Z", "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { diff --git a/notebooks/EZH1/phenopackets/PMID_37433783_P15.json b/notebooks/EZH1/phenopackets/PMID_37433783_P15.json index 65ac0c1ef..23158ecea 100644 --- a/notebooks/EZH1/phenopackets/PMID_37433783_P15.json +++ b/notebooks/EZH1/phenopackets/PMID_37433783_P15.json @@ -70,13 +70,6 @@ }, "excluded": true }, - { - "type": { - "id": "HP:0031826", - "label": "Abnormal reflex" - }, - "excluded": true - }, { "type": { "id": "HP:0001310", @@ -114,7 +107,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { - "id": "var_vsIMzDKCOoGzWolllJFVzbYTz", + "id": "var_mOMsGKYkiXHNiKAuthIZsZTYK", "geneContext": { "valueId": "HGNC:3526", "symbol": "EZH1" @@ -149,7 +142,7 @@ } ], "metaData": { - "created": "2023-11-25T07:14:09.550678968Z", + "created": "2023-11-29T09:30:58.471926927Z", "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { diff --git a/notebooks/EZH1/phenopackets/PMID_37433783_P16.json b/notebooks/EZH1/phenopackets/PMID_37433783_P16.json index a6a9f598e..939448987 100644 --- a/notebooks/EZH1/phenopackets/PMID_37433783_P16.json +++ b/notebooks/EZH1/phenopackets/PMID_37433783_P16.json @@ -73,7 +73,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { - "id": "var_vsIMzDKCOoGzWolllJFVzbYTz", + "id": "var_mOMsGKYkiXHNiKAuthIZsZTYK", "geneContext": { "valueId": "HGNC:3526", "symbol": "EZH1" @@ -108,7 +108,7 @@ } ], "metaData": { - "created": "2023-11-25T07:14:09.556304931Z", + "created": "2023-11-29T09:30:58.474927186Z", "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { diff --git a/notebooks/EZH1/phenopackets/PMID_37433783_P17newbranchofP13-14.json b/notebooks/EZH1/phenopackets/PMID_37433783_P17newbranchofP13-14.json index ee874be49..49735ed6c 100644 --- a/notebooks/EZH1/phenopackets/PMID_37433783_P17newbranchofP13-14.json +++ b/notebooks/EZH1/phenopackets/PMID_37433783_P17newbranchofP13-14.json @@ -107,13 +107,6 @@ }, "excluded": true }, - { - "type": { - "id": "HP:0002172", - "label": "Postural instability" - }, - "excluded": true - }, { "type": { "id": "HP:0001310", @@ -156,13 +149,6 @@ }, "excluded": true }, - { - "type": { - "id": "HP:0002119", - "label": "Ventriculomegaly" - }, - "excluded": true - }, { "type": { "id": "HP:0000365", @@ -193,7 +179,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { - "id": "var_vsIMzDKCOoGzWolllJFVzbYTz", + "id": "var_mOMsGKYkiXHNiKAuthIZsZTYK", "geneContext": { "valueId": "HGNC:3526", "symbol": "EZH1" @@ -228,7 +214,7 @@ } ], "metaData": { - "created": "2023-11-25T07:14:09.570159196Z", + "created": "2023-11-29T09:30:58.477818012Z", "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { diff --git a/notebooks/EZH1/phenopackets/PMID_37433783_P18.json b/notebooks/EZH1/phenopackets/PMID_37433783_P18.json index 7c73760f4..24d06f50c 100644 --- a/notebooks/EZH1/phenopackets/PMID_37433783_P18.json +++ b/notebooks/EZH1/phenopackets/PMID_37433783_P18.json @@ -78,27 +78,6 @@ }, "excluded": true }, - { - "type": { - "id": "HP:0000717", - "label": "Autism" - }, - "excluded": true - }, - { - "type": { - "id": "HP:0000718", - "label": "Aggressive behavior" - }, - "excluded": true - }, - { - "type": { - "id": "HP:0002376", - "label": "Developmental regression" - }, - "excluded": true - }, { "type": { "id": "HP:0001276", @@ -113,13 +92,6 @@ }, "excluded": true }, - { - "type": { - "id": "HP:0031826", - "label": "Abnormal reflex" - }, - "excluded": true - }, { "type": { "id": "HP:0003202", @@ -178,7 +150,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { - "id": "var_vsIMzDKCOoGzWolllJFVzbYTz", + "id": "var_mOMsGKYkiXHNiKAuthIZsZTYK", "geneContext": { "valueId": "HGNC:3526", "symbol": "EZH1" @@ -213,7 +185,7 @@ } ], "metaData": { - "created": "2023-11-25T07:14:09.578144073Z", + "created": "2023-11-29T09:30:58.481093168Z", "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { diff --git a/notebooks/EZH1/phenopackets/PMID_37433783_P19Newpatient.json b/notebooks/EZH1/phenopackets/PMID_37433783_P19Newpatient.json index e761f2b7f..e884547ed 100644 --- a/notebooks/EZH1/phenopackets/PMID_37433783_P19Newpatient.json +++ b/notebooks/EZH1/phenopackets/PMID_37433783_P19Newpatient.json @@ -65,13 +65,6 @@ "label": "Dystonia" } }, - { - "type": { - "id": "HP:0001387", - "label": "Joint stiffness" - }, - "excluded": true - }, { "type": { "id": "HP:0002376", @@ -86,13 +79,6 @@ }, "excluded": true }, - { - "type": { - "id": "HP:0100704", - "label": "Cerebral visual impairment" - }, - "excluded": true - }, { "type": { "id": "HP:0000648", @@ -102,29 +88,8 @@ }, { "type": { - "id": "HP:0000639", - "label": "Nystagmus" - }, - "excluded": true - }, - { - "type": { - "id": "HP:0002119", - "label": "Ventriculomegaly" - }, - "excluded": true - }, - { - "type": { - "id": "HP:0000365", - "label": "Hearing impairment" - }, - "excluded": true - }, - { - "type": { - "id": "HP:0001903", - "label": "Anemia" + "id": "HP:0001387", + "label": "Joint stiffness" }, "excluded": true } @@ -144,7 +109,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { - "id": "var_VWADFtgIMOamuqojvzVPHZdjg", + "id": "var_jvNqbrRQrfOlarNdNLDJAJail", "geneContext": { "valueId": "HGNC:3526", "symbol": "EZH1" @@ -179,7 +144,7 @@ } ], "metaData": { - "created": "2023-11-25T07:14:09.584033012Z", + "created": "2023-11-29T09:30:58.489734888Z", "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { diff --git a/notebooks/EZH1/phenopackets/PMID_37433783_P2.json b/notebooks/EZH1/phenopackets/PMID_37433783_P2.json index a579e95d0..4d0f9e3de 100644 --- a/notebooks/EZH1/phenopackets/PMID_37433783_P2.json +++ b/notebooks/EZH1/phenopackets/PMID_37433783_P2.json @@ -56,7 +56,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { - "id": "var_xLjrJhIjbpAztrfoOGJZNkOwk", + "id": "var_mVBqvlXeGgXbmakaKxOhzwvzQ", "geneContext": { "valueId": "HGNC:3526", "symbol": "EZH1" @@ -91,7 +91,7 @@ } ], "metaData": { - "created": "2023-11-25T07:14:09.447468042Z", + "created": "2023-11-29T09:30:58.407253026Z", "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { diff --git a/notebooks/EZH1/phenopackets/PMID_37433783_P3.json b/notebooks/EZH1/phenopackets/PMID_37433783_P3.json index ff5aca4e7..a1c4c9751 100644 --- a/notebooks/EZH1/phenopackets/PMID_37433783_P3.json +++ b/notebooks/EZH1/phenopackets/PMID_37433783_P3.json @@ -108,69 +108,6 @@ }, "excluded": true }, - { - "type": { - "id": "HP:0000717", - "label": "Autism" - }, - "excluded": true - }, - { - "type": { - "id": "HP:0000718", - "label": "Aggressive behavior" - }, - "excluded": true - }, - { - "type": { - "id": "HP:0002376", - "label": "Developmental regression" - }, - "excluded": true - }, - { - "type": { - "id": "HP:0012434", - "label": "Delayed early-childhood social milestone development" - }, - "excluded": true - }, - { - "type": { - "id": "HP:0001276", - "label": "Hypertonia" - }, - "excluded": true - }, - { - "type": { - "id": "HP:0001332", - "label": "Dystonia" - }, - "excluded": true - }, - { - "type": { - "id": "HP:0002169", - "label": "Clonus" - }, - "excluded": true - }, - { - "type": { - "id": "HP:0001310", - "label": "Dysmetria" - }, - "excluded": true - }, - { - "type": { - "id": "HP:0002066", - "label": "Gait ataxia" - }, - "excluded": true - }, { "type": { "id": "HP:0003202", @@ -180,22 +117,15 @@ }, { "type": { - "id": "HP:0100704", - "label": "Cerebral visual impairment" - }, - "excluded": true - }, - { - "type": { - "id": "HP:0000648", - "label": "Optic atrophy" + "id": "HP:0000717", + "label": "Autism" }, "excluded": true }, { "type": { - "id": "HP:0000639", - "label": "Nystagmus" + "id": "HP:0000718", + "label": "Aggressive behavior" }, "excluded": true }, @@ -205,13 +135,6 @@ "label": "Hearing impairment" }, "excluded": true - }, - { - "type": { - "id": "HP:0001897", - "label": "Normocytic anemia" - }, - "excluded": true } ], "interpretations": [ @@ -229,7 +152,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { - "id": "var_euZzpscQQFpVichIAQYLrFJcb", + "id": "var_sXvlAitzPWxEKZnivdmidfHCp", "geneContext": { "valueId": "HGNC:3526", "symbol": "EZH1" @@ -264,7 +187,7 @@ } ], "metaData": { - "created": "2023-11-25T07:14:09.452582836Z", + "created": "2023-11-29T09:30:58.416706085Z", "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { diff --git a/notebooks/EZH1/phenopackets/PMID_37433783_P4.json b/notebooks/EZH1/phenopackets/PMID_37433783_P4.json index c470b62f3..7aa0c7f14 100644 --- a/notebooks/EZH1/phenopackets/PMID_37433783_P4.json +++ b/notebooks/EZH1/phenopackets/PMID_37433783_P4.json @@ -116,8 +116,8 @@ }, { "type": { - "id": "HP:0000717", - "label": "Autism" + "id": "HP:0003202", + "label": "Skeletal muscle atrophy" }, "excluded": true }, @@ -142,41 +142,6 @@ }, "excluded": true }, - { - "type": { - "id": "HP:0001332", - "label": "Dystonia" - }, - "excluded": true - }, - { - "type": { - "id": "HP:0031826", - "label": "Abnormal reflex" - }, - "excluded": true - }, - { - "type": { - "id": "HP:0001288", - "label": "Gait disturbance" - }, - "excluded": true - }, - { - "type": { - "id": "HP:0003202", - "label": "Skeletal muscle atrophy" - }, - "excluded": true - }, - { - "type": { - "id": "HP:0025406", - "label": "Asthenia" - }, - "excluded": true - }, { "type": { "id": "HP:0100704", @@ -221,7 +186,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { - "id": "var_uqzXjbEECcGxCPHcoUQUhXPUs", + "id": "var_gnCzFxCvzsdBafPDAdqjmBgLG", "geneContext": { "valueId": "HGNC:3526", "symbol": "EZH1" @@ -256,7 +221,7 @@ } ], "metaData": { - "created": "2023-11-25T07:14:09.460997104Z", + "created": "2023-11-29T09:30:58.424275875Z", "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { diff --git a/notebooks/EZH1/phenopackets/PMID_37433783_P5.json b/notebooks/EZH1/phenopackets/PMID_37433783_P5.json index 28aa03126..c884f6605 100644 --- a/notebooks/EZH1/phenopackets/PMID_37433783_P5.json +++ b/notebooks/EZH1/phenopackets/PMID_37433783_P5.json @@ -5,18 +5,6 @@ "sex": "MALE" }, "phenotypicFeatures": [ - { - "type": { - "id": "HP:0001387", - "label": "Joint stiffness" - } - }, - { - "type": { - "id": "HP:0000733", - "label": "Abnormal repetitive mannerisms" - } - }, { "type": { "id": "HP:0000718", @@ -25,8 +13,8 @@ }, { "type": { - "id": "HP:0100716", - "label": "Self-injurious behavior" + "id": "HP:0002066", + "label": "Gait ataxia" } }, { @@ -37,20 +25,20 @@ }, { "type": { - "id": "HP:0010862", - "label": "Delayed fine motor development" + "id": "HP:0001276", + "label": "Hypertonia" } }, { "type": { - "id": "HP:0000750", - "label": "Delayed speech and language development" + "id": "HP:0001310", + "label": "Dysmetria" } }, { "type": { - "id": "HP:0000735", - "label": "Impaired social interactions" + "id": "HP:0000194", + "label": "Open mouth" } }, { @@ -61,8 +49,14 @@ }, { "type": { - "id": "HP:0001276", - "label": "Hypertonia" + "id": "HP:0001387", + "label": "Joint stiffness" + } + }, + { + "type": { + "id": "HP:0001347", + "label": "Hyperreflexia" } }, { @@ -73,26 +67,32 @@ }, { "type": { - "id": "HP:0001347", - "label": "Hyperreflexia" + "id": "HP:0000490", + "label": "Deeply set eye" } }, { "type": { - "id": "HP:0001310", - "label": "Dysmetria" + "id": "HP:0100716", + "label": "Self-injurious behavior" } }, { "type": { - "id": "HP:0001337", - "label": "Tremor" + "id": "HP:0000733", + "label": "Abnormal repetitive mannerisms" } }, { "type": { - "id": "HP:0002066", - "label": "Gait ataxia" + "id": "HP:0012472", + "label": "Eclabion" + } + }, + { + "type": { + "id": "HP:0000735", + "label": "Impaired social interactions" } }, { @@ -103,38 +103,38 @@ }, { "type": { - "id": "HP:0000256", - "label": "Macrocephaly" + "id": "HP:0000322", + "label": "Short philtrum" } }, { "type": { - "id": "HP:0000280", - "label": "Coarse facial features" + "id": "HP:0000750", + "label": "Delayed speech and language development" } }, { "type": { - "id": "HP:0000490", - "label": "Deeply set eye" + "id": "HP:0000280", + "label": "Coarse facial features" } }, { "type": { - "id": "HP:0000322", - "label": "Short philtrum" + "id": "HP:0000256", + "label": "Macrocephaly" } }, { "type": { - "id": "HP:0000194", - "label": "Open mouth" + "id": "HP:0001337", + "label": "Tremor" } }, { "type": { - "id": "HP:0012472", - "label": "Eclabion" + "id": "HP:0010862", + "label": "Delayed fine motor development" } }, { @@ -152,29 +152,29 @@ }, { "type": { - "id": "HP:0001252", - "label": "Hypotonia" + "id": "HP:0000365", + "label": "Hearing impairment" }, "excluded": true }, { "type": { - "id": "HP:0001332", - "label": "Dystonia" + "id": "HP:0002119", + "label": "Ventriculomegaly" }, "excluded": true }, { "type": { - "id": "HP:0001310", - "label": "Dysmetria" + "id": "HP:0000639", + "label": "Nystagmus" }, "excluded": true }, { "type": { - "id": "HP:0001337", - "label": "Tremor" + "id": "HP:0001332", + "label": "Dystonia" }, "excluded": true }, @@ -191,34 +191,6 @@ "label": "Cerebral visual impairment" }, "excluded": true - }, - { - "type": { - "id": "HP:0000648", - "label": "Optic atrophy" - }, - "excluded": true - }, - { - "type": { - "id": "HP:0000639", - "label": "Nystagmus" - }, - "excluded": true - }, - { - "type": { - "id": "HP:0002119", - "label": "Ventriculomegaly" - }, - "excluded": true - }, - { - "type": { - "id": "HP:0000365", - "label": "Hearing impairment" - }, - "excluded": true } ], "interpretations": [ @@ -236,7 +208,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { - "id": "var_LNmiRngqDSyjrHwEyAGhnoNnC", + "id": "var_iFSYtXQGEUAHvfSBNHgIStPOd", "geneContext": { "valueId": "HGNC:3526", "symbol": "EZH1" @@ -271,7 +243,7 @@ } ], "metaData": { - "created": "2023-11-25T07:14:09.467932939Z", + "created": "2023-11-29T09:30:58.441695928Z", "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { diff --git a/notebooks/EZH1/phenopackets/PMID_37433783_P6.json b/notebooks/EZH1/phenopackets/PMID_37433783_P6.json index fd7877dfe..53b51a255 100644 --- a/notebooks/EZH1/phenopackets/PMID_37433783_P6.json +++ b/notebooks/EZH1/phenopackets/PMID_37433783_P6.json @@ -13,8 +13,8 @@ }, { "type": { - "id": "HP:0001250", - "label": "Seizure" + "id": "HP:0001252", + "label": "Hypotonia" } }, { @@ -25,56 +25,56 @@ }, { "type": { - "id": "HP:0010862", - "label": "Delayed fine motor development" + "id": "HP:0002307", + "label": "Drooling" } }, { "type": { - "id": "HP:0000750", - "label": "Delayed speech and language development" + "id": "HP:0001763", + "label": "Pes planus" } }, { "type": { - "id": "HP:0001249", - "label": "Intellectual disability" + "id": "HP:0001943", + "label": "Hypoglycemia" } }, { "type": { - "id": "HP:0001252", - "label": "Hypotonia" + "id": "HP:0001310", + "label": "Dysmetria" } }, { "type": { - "id": "HP:0002312", - "label": "Clumsiness" + "id": "HP:0001250", + "label": "Seizure" } }, { "type": { - "id": "HP:0001310", - "label": "Dysmetria" + "id": "HP:0010862", + "label": "Delayed fine motor development" } }, { "type": { - "id": "HP:0002307", - "label": "Drooling" + "id": "HP:0001249", + "label": "Intellectual disability" } }, { "type": { - "id": "HP:0001763", - "label": "Pes planus" + "id": "HP:0000750", + "label": "Delayed speech and language development" } }, { "type": { - "id": "HP:0001943", - "label": "Hypoglycemia" + "id": "HP:0002312", + "label": "Clumsiness" } }, { @@ -112,20 +112,6 @@ }, "excluded": true }, - { - "type": { - "id": "HP:0031826", - "label": "Abnormal reflex" - }, - "excluded": true - }, - { - "type": { - "id": "HP:0002312", - "label": "Clumsiness" - }, - "excluded": true - }, { "type": { "id": "HP:0003202", @@ -184,7 +170,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { - "id": "var_LNmiRngqDSyjrHwEyAGhnoNnC", + "id": "var_iFSYtXQGEUAHvfSBNHgIStPOd", "geneContext": { "valueId": "HGNC:3526", "symbol": "EZH1" @@ -219,7 +205,7 @@ } ], "metaData": { - "created": "2023-11-25T07:14:09.475063085Z", + "created": "2023-11-29T09:30:58.445363998Z", "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { diff --git a/notebooks/EZH1/phenopackets/PMID_37433783_P7.json b/notebooks/EZH1/phenopackets/PMID_37433783_P7.json index 632217cb0..c37055481 100644 --- a/notebooks/EZH1/phenopackets/PMID_37433783_P7.json +++ b/notebooks/EZH1/phenopackets/PMID_37433783_P7.json @@ -100,20 +100,6 @@ }, "excluded": true }, - { - "type": { - "id": "HP:0031826", - "label": "Abnormal reflex" - }, - "excluded": true - }, - { - "type": { - "id": "HP:0002172", - "label": "Postural instability" - }, - "excluded": true - }, { "type": { "id": "HP:0001310", @@ -179,7 +165,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { - "id": "var_nZTKoTbQPBqooKLHpkwyOJBeO", + "id": "var_pmOfZPCuTMuYeNvjHbqaNIhWT", "geneContext": { "valueId": "HGNC:3526", "symbol": "EZH1" @@ -214,7 +200,7 @@ } ], "metaData": { - "created": "2023-11-25T07:14:09.480892896Z", + "created": "2023-11-29T09:30:58.448538064Z", "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { diff --git a/notebooks/EZH1/phenopackets/PMID_37433783_P8.json b/notebooks/EZH1/phenopackets/PMID_37433783_P8.json index dc8d1d6f8..1a33043e6 100644 --- a/notebooks/EZH1/phenopackets/PMID_37433783_P8.json +++ b/notebooks/EZH1/phenopackets/PMID_37433783_P8.json @@ -13,56 +13,56 @@ }, { "type": { - "id": "HP:0010862", - "label": "Delayed fine motor development" + "id": "HP:0001252", + "label": "Hypotonia" } }, { "type": { - "id": "HP:0000750", - "label": "Delayed speech and language development" + "id": "HP:0034295", + "label": "Reduced cerebral white matter volume" } }, { "type": { - "id": "HP:0001249", - "label": "Intellectual disability" + "id": "HP:0100876", + "label": "Infra-orbital crease" } }, { "type": { - "id": "HP:0001252", - "label": "Hypotonia" + "id": "HP:0009826", + "label": "Limb undergrowth" } }, { "type": { - "id": "HP:0031936", - "label": "Delayed ability to walk" + "id": "HP:0006956", + "label": "Lateral ventricle dilatation" } }, { "type": { - "id": "HP:0006956", - "label": "Lateral ventricle dilatation" + "id": "HP:0000348", + "label": "High forehead" } }, { "type": { - "id": "HP:0034295", - "label": "Reduced cerebral white matter volume" + "id": "HP:0034311", + "label": "Hypoplastic optic chiasm" } }, { "type": { - "id": "HP:0000348", - "label": "High forehead" + "id": "HP:0010862", + "label": "Delayed fine motor development" } }, { "type": { - "id": "HP:0100876", - "label": "Infra-orbital crease" + "id": "HP:0001249", + "label": "Intellectual disability" } }, { @@ -73,8 +73,8 @@ }, { "type": { - "id": "HP:0009826", - "label": "Limb undergrowth" + "id": "HP:0000750", + "label": "Delayed speech and language development" } }, { @@ -85,8 +85,8 @@ }, { "type": { - "id": "HP:0034311", - "label": "Hypoplastic optic chiasm" + "id": "HP:0031936", + "label": "Delayed ability to walk" } }, { @@ -131,20 +131,6 @@ }, "excluded": true }, - { - "type": { - "id": "HP:0031826", - "label": "Abnormal reflex" - }, - "excluded": true - }, - { - "type": { - "id": "HP:0002172", - "label": "Postural instability" - }, - "excluded": true - }, { "type": { "id": "HP:0001310", @@ -203,7 +189,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { - "id": "var_JgioiTzaCZUBTQHDteGcprXUF", + "id": "var_ChpqyRWCpfqvvrLeHKlAODfeW", "geneContext": { "valueId": "HGNC:3526", "symbol": "EZH1" @@ -238,7 +224,7 @@ } ], "metaData": { - "created": "2023-11-25T07:14:09.486885070Z", + "created": "2023-11-29T09:30:58.451432943Z", "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { diff --git a/notebooks/EZH1/phenopackets/PMID_37433783_P9.json b/notebooks/EZH1/phenopackets/PMID_37433783_P9.json index 370b207a0..e3e5fd74f 100644 --- a/notebooks/EZH1/phenopackets/PMID_37433783_P9.json +++ b/notebooks/EZH1/phenopackets/PMID_37433783_P9.json @@ -77,12 +77,6 @@ "label": "Optic atrophy" } }, - { - "type": { - "id": "HP:0002119", - "label": "Ventriculomegaly" - } - }, { "type": { "id": "HP:0000256", @@ -167,13 +161,6 @@ "label": "Septo-optic dysplasia" } }, - { - "type": { - "id": "HP:0000717", - "label": "Autism" - }, - "excluded": true - }, { "type": { "id": "HP:0000718", @@ -202,13 +189,6 @@ }, "excluded": true }, - { - "type": { - "id": "HP:0030051", - "label": "Tip-toe gait" - }, - "excluded": true - }, { "type": { "id": "HP:0002119", @@ -232,7 +212,7 @@ "interpretationStatus": "CAUSATIVE", "variantInterpretation": { "variationDescriptor": { - "id": "var_JgioiTzaCZUBTQHDteGcprXUF", + "id": "var_ChpqyRWCpfqvvrLeHKlAODfeW", "geneContext": { "valueId": "HGNC:3526", "symbol": "EZH1" @@ -267,7 +247,7 @@ } ], "metaData": { - "created": "2023-11-25T07:14:09.493402957Z", + "created": "2023-11-29T09:30:58.454275131Z", "createdBy": "ORCID:0000-0002-0736-9199", "resources": [ { diff --git a/src/ppktstore/__init__.py b/src/ppktstore/__init__.py index ad565833d..7783531fb 100644 --- a/src/ppktstore/__init__.py +++ b/src/ppktstore/__init__.py @@ -3,7 +3,7 @@ from .ppacket import PPacket from .ppktstore import PPKtStore -__version__ = "0.0.2" +__version__ = "0.0.3" __all__ = [ "Cohort",