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Metadata
ID DOID:0110097
Name short-rib thoracic dysplasia 9 with or without polydactyly
Definition An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13.
https://www.ncbi.nlm.nih.gov/pubmed/22503633
Xrefs

ICD10CM:Q87.5

OMIM:266920

Synonyms

renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia [EXACT]

SRTD9 [EXACT]

Parent Relationships

is_a asphyxiating thoracic dystrophy

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