Search Ontology:
Human Disease
acrofacial dysostosis, Patagonia type
- Term ID
- DOID:0060385
- Synonyms
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- 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/
- References
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- MESH:C538185
- MIM:601829
- ORDO:1787
- SNOMEDCT_US_2023_03_01:720429007
- UMLS_CUI:C1866168
- Ontology
- Human Disease ( DOID:0060385 )
- is a type of
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Genes Involved
Zebrafish Models