Term Name: | short-rib thoracic dysplasia 8 with or without polydactyly |
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Synonyms: | short rib-polydactyly syndrome type VI, SRPS6, SRTD8 |
Definition: | An asphyxiating thoracic dystrophy that has_material_basis_in compound heterozygous mutation in the WDR60 gene on chromosome 7q36. |
Ontology: | Human Disease [DOID:0110094] ( DOID:0110094 ) |