| Metadata | |
|---|---|
| ID | DOID:0060385 |
| Name | acrofacial dysostosis, Patagonia type |
| Definition | An acrofacial dysostosis that is characterized by oligodontia, short stature, pili torti, syndactyly, vertebral abnormalities and cleft lip, and has_material_basis_in X-linked dominant inheritance. https://pubmed.ncbi.nlm.nih.gov/9098488/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:720429007 |
| Subsets |
DO_rare_slim |
| Parent Relationships |