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Metadata
DOID DOID:0110093
Name short-rib thoracic dysplasia 13 with or without polydactyly
Definition An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the CEP120 gene on chromosome 5q23.
https://www.ncbi.nlm.nih.gov/pubmed/25361962
Synonyms

SRTD13 [EXACT]

Xrefs

ICD10CM:Q77.2

OMIM:616300

Relationships

is_a asphyxiating thoracic dystrophy

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