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Metadata
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

ICD10CM:Q77.2

OMIM:613819

Synonyms

ATD4 [EXACT]

short-rib thoracic dysplasia 4 with or without polydactyly [EXACT]

SRTD4 [EXACT]

Parent Relationships

is_a autosomal recessive disease

is_a asphyxiating thoracic dystrophy

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