Term Name: | asphyxiating thoracic dystrophy 2 |
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Synonyms: | ATD2, short-rib thoracic dysplasia 2 with or without polydactyly, SRTD2 |
Definition: | An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the IFT80 gene on chromosome 3q25. |
Ontology: | Human Disease [DOID:0110086] ( DOID:0110086 ) |