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Metadata
ID DOID:0110096
Name short-rib thoracic dysplasia 14 with polydactyly
Definition An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the KIAA0586 gene on chromosome 14q23.
https://www.ncbi.nlm.nih.gov/pubmed/26166481
Xrefs

ICD10CM:Q04.3

MIM:616546

Synonyms

SRTD14 [EXACT]

Parent Relationships

is_a autosomal recessive disease

is_a asphyxiating thoracic dystrophy

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