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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

ICD10CM:Q77.2

OMIM:614376

Synonyms

ATD5 [EXACT]

short-rib thoracic dysplasia 5 with or without polydactyly [EXACT]

SRTD5 [EXACT]

Parent Relationships

is_a autosomal recessive disease

is_a asphyxiating thoracic dystrophy

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