Term Name: | short-rib thoracic dysplasia 19 with or without polydactyly |
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Synonyms: | |
Definition: | An asphyxiating thoracic dystrophy that has_material_basis_in compound heterozygous mutation in the IFT81 gene on chromosome 12q24. |
Ontology: | Human Disease [DOID:0080295] ( DOID:0080295 ) |