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Metadata
ID DOID:0110090
Name short-rib thoracic dysplasia 7 with or without polydactyly
Definition An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1.
https://www.ncbi.nlm.nih.gov/pubmed/21473986, https://www.ncbi.nlm.nih.gov/pubmed/17935248
Xrefs

ICD10CM:Q77.2

MIM:614091

Synonyms

short rib-polydactyly syndrome type V [EXACT]

SRPS5 [EXACT]

SRTD7 [EXACT]

Parent Relationships

is_a autosomal recessive disease

is_a digenic disease

is_a asphyxiating thoracic dystrophy

Subclass Logical Relationships

has material basis in some digenic inheritance

has material basis in some autosomal recessive inheritance

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