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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

MESH:C538185

MIM:601829

ORDO:1787

SNOMEDCT_US_2023_03_01:720429007

UMLS_CUI:C1866168

Subsets

DO_rare_slim

Parent Relationships

is_a acrofacial dysostosis

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