search

monarch-initiative / phenopacket-store

Collections of GA4GH phenopackets that represent individuals with Mendelian diseases.
https://monarch-initiative.github.io/phenopacket-store/
BSD 3-Clause "New" or "Revised" License
14 stars 4 forks source link

OFD1 #11

Closed ldingemans closed 1 year ago

ldingemans commented 1 year ago

Joubert syndrome, https://www.omim.org/entry/300804: https://www.sciencedirect.com/science/article/pii/S000292970900398X?via%3Dihub

Orofaciodigital syndrome, https://www.omim.org/entry/311200: https://www.sciencedirect.com/science/article/pii/S0002929707630973?via%3Dihub

Simpson-Golabi-Behmel syndrome, type 2, https://www.omim.org/entry/300209: https://link.springer.com/article/10.1007/s00439-006-0210-5