Term Name: | short-rib thoracic dysplasia 7 with or without polydactyly |
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Synonyms: | short rib-polydactyly syndrome type V, SRPS5, SRTD7 |
Definition: | An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1. |
Ontology: | Human Disease [DOID:0110090] ( DOID:0110090 ) |