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| 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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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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No relevant statements available
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dysostosis |__acrofacial dysostosis |__acrofacial dysostosis, Patagonia type |
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| Is a | acrofacial dysostosis | ||
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External Crossreferences & Linkouts
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MESH:C538185 MIM:601829 ORDO:1787 SNOMEDCT_US_2023_03_01:720429007 UMLS_CUI:C1866168 |
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