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| Term | short-rib thoracic dysplasia 14 with polydactyly | ID (Ontology) | DOID:0110096 (Human Disease) |
| Definition | An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the KIAA0586 gene on chromosome 14q23. | ||
| Also Known As | "SRTD14" | ||
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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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autosomal genetic disease |__autosomal recessive disease______ bone development disease | |__asphyxiating thoracic dystrophy__| short-rib thoracic dysplasia 14 with polydactyly |
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| Is a |
asphyxiating thoracic dystrophy autosomal recessive disease |
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ICD10CM:Q04.3 MIM:616546 |
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