Term Name: | asphyxiating thoracic dystrophy 4 |
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Synonyms: | ATD4, short-rib thoracic dysplasia 4 with or without polydactyly, SRTD4 |
Definition: | An asphyxiating thoracic dystrophy has_material_basis_in compound heterozygous mutation in the TTC21B gene on chromosome 2q24. |
Ontology: | Human Disease [DOID:0110088] ( DOID:0110088 ) |