| Metadata | |
|---|---|
| ID | DOID:0060316 |
| Name | orofaciodigital syndrome I |
| Definition | An orofaciodigital syndrome that is characterized by malformations of the face, oral cavity, and digits, has_material_basis_in X-linked dominant inheritance of the OFD1 gene with lethality in males and is associated with polycystic kidney disease. http://en.wikipedia.org/wiki/Orofaciodigital_syndrome_1, https://ghr.nlm.nih.gov/condition/oral-facial-digital-syndrome#inheritance |
| Xrefs |
SNOMEDCT_US_2023_03_01:1779005 SNOMEDCT_US_2023_03_01:403773005 SNOMEDCT_US_2023_03_01:52868006 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
orofaciodigital syndrome 1 [EXACT] orofaciodigital syndrome type I [EXACT] Papillon-Leage-Psaume syndrome [EXACT] |
| Parent Relationships |