Term Name: | asphyxiating thoracic dystrophy 5 |
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Synonyms: | ATD5, short-rib thoracic dysplasia 5 with or without polydactyly, SRTD5 |
Definition: | An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the WDR19 gene on chromosome 4p14. |
Ontology: | Human Disease [DOID:0110089] ( DOID:0110089 ) |