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Metadata
DOID DOID:0110087
Name asphyxiating thoracic dystrophy 3
Definition An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22.
https://www.ncbi.nlm.nih.gov/pubmed/19442771
Synonyms

ATD3 [EXACT]

polydactyly with neonatal chondrodystrophy, type I [EXACT]

polydactyly with neonatal chondrodystrophy, type III [EXACT]

Saldino-Noonan syndrome [EXACT]

short rib-polydactyly syndrome, type I [EXACT]

short rib-polydactyly syndrome, type IIB [EXACT]

short-rib thoracic dysplasia 3 with or without polydactyly [EXACT]

SRPS1 [EXACT]

SRPS2B [EXACT]

SRPS3 [EXACT]

SRTD3 [EXACT]

Verma-Naumoff syndrome [EXACT]

Xrefs

ICD10CM:Q77.2

OMIM:613091

Relationships

is_a asphyxiating thoracic dystrophy

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