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| Term | autosomal dominant chondrodysplasia punctata | ID (Ontology) | DOID:0060293 (Human Disease) |
| Definition | A chondrodysplasia punctata that is characterized by abnormal facies and stippling of the limbs, associated with vitamin K-related teratogenicity, has_material_basis_in autosomal 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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monogenic disease |__chondrodysplasia punctata___ autosomal genetic disease | |__autosomal dominant disease__| syndrome | |__chondrodysplasia punctata___| autosomal dominant chondrodysplasia punctata |
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| Is a |
autosomal dominant disease chondrodysplasia punctata |
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External Crossreferences & Linkouts
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ICD10CM:Q77.3 MIM:118650 MIM:118651 MIM:602497 ORDO:79344 |
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