Metadata | |
---|---|
ID | DOID:0110089 |
Name | asphyxiating thoracic dystrophy 5 |
Definition | An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the WDR19 gene on chromosome 4p14. https://www.ncbi.nlm.nih.gov/pubmed/22019273 |
Xrefs | |
Synonyms |
ATD5 [EXACT] short-rib thoracic dysplasia 5 with or without polydactyly [EXACT] SRTD5 [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |