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POT1
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pnrobinson committed Dec 10, 2023
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Expand Up @@ -20,6 +20,7 @@ were mainly created using the Python library [pyphetools](https://github.com/mon
| [LIRICAL](https://github.com/monarch-initiative/phenopacket-store/blob/main/notebooks/LIRICAL/LIRICAL.ipynb){:target="_blank"} | 384 phenopackets, various diseases |
|[MAKP8IP3](https://github.com/monarch-initiative/phenopacket-store/blob/main/notebooks/MAPK8IP3/MAPK8IP3_summary.ipynb){:target="_blank"} | 20 phenopackets, [Neurodevelopmental disorder with or without variable brain abnormalities](https://omim.org/entry/618443){:target="_blank"}|
| [OFD1](https://github.com/monarch-initiative/phenopacket-store/blob/main/notebooks/OFD1/OFD1_Summary.ipynb){:target="_blank"} | 25 phenopackets; [Simpson-Golabi-Behmel syndrome, type 2](https://omim.org/entry/300209){:target="_blank"}, [Joubert syndrome 10](https://omim.org/entry/300804){:target="_blank"}, [Orofaciodigital syndrome I](https://omim.org/entry/311200){:target="_blank"} |
| [POT1](https://github.com/monarch-initiative/phenopacket-store/blob/main/notebooks/POT1/Kelich_2022_POT1.ipynb){:target="_blank"} | 4 phenopackets; [Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8](https://omim.org/entry/620367){:target="_blank"} |
| [PPP2R1A](https://github.com/monarch-initiative/phenopacket-store/blob/main/notebooks/PPP2R1A/Qian_PPP2R1A.ipynb){:target="_blank"} | 60 phenopackets; [Houge-Janssens syndrome 2](https://omim.org/entry/616362){:target="_blank"} |
| [PTPN11](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/PTPN11){:target="_blank"} | 42 phenopackets; [LEOPARD syndrome 1](https://omim.org/entry/151100){:target="_blank"}, [Metachondromatosis](https://omim.org/entry/156250){:target="_blank"}, [Noonan syndrome 1](https://omim.org/entry/163950){:target="_blank"} |
| [RPGRIP1]() | 229 phenopackets; [Cone-rod dystrophy 13](https://omim.org/entry/608194){:target="_blank"}, [Leber congenital amaurosis 6](https://omim.org/entry/613826){:target="_blank"} |
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