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| Term | short-rib thoracic dysplasia 19 with or without polydactyly | ID (Ontology) | DOID:0080295 (Human Disease) |
| Definition | An asphyxiating thoracic dystrophy that has_material_basis_in compound heterozygous mutation in the IFT81 gene on chromosome 12q24. | ||
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autosomal genetic disease |__autosomal recessive disease______ bone development disease | |__asphyxiating thoracic dystrophy__| short-rib thoracic dysplasia 19 with or without polydactyly |
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| Is a |
asphyxiating thoracic dystrophy autosomal recessive disease |
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External Crossreferences & Linkouts
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| MIM:617895 | |||