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Metadata
ID DOID:0110095
Name short-rib thoracic dysplasia 11 with or without polydactyly
Definition An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the WDR34 gene on chromosome 9q34.
https://www.ncbi.nlm.nih.gov/pubmed/24183449
Xrefs

ICD10CM:Q77.2

OMIM:615633

Synonyms

SRTD11 [EXACT]

Parent Relationships

is_a autosomal recessive disease

is_a asphyxiating thoracic dystrophy

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