Term Name: | short-rib thoracic dysplasia 18 with polydactyly |
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Synonyms: | |
Definition: | An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the IFT43 gene on chromosome 14q24. |
Ontology: | Human Disease [DOID:0080293] ( DOID:0080293 ) |