FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term acrofacial dysostosis, Patagonia type ID (Ontology) DOID:0060385 (Human Disease)
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.
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  dysostosis
   |__acrofacial dysostosis
       |__acrofacial dysostosis, Patagonia type
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MESH:C538185
MIM:601829
ORDO:1787
SNOMEDCT_US_2023_03_01:720429007
UMLS_CUI:C1866168