Metadata | |
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ID | DOID:0110088 |
Name | asphyxiating thoracic dystrophy 4 |
Definition | An asphyxiating thoracic dystrophy has_material_basis_in compound heterozygous mutation in the TTC21B gene on chromosome 2q24. https://www.ncbi.nlm.nih.gov/pubmed/21258341 |
Xrefs | |
Synonyms |
ATD4 [EXACT] short-rib thoracic dysplasia 4 with or without polydactyly [EXACT] SRTD4 [EXACT] |
Parent Relationships |