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DO Term : asphyxiating thoracic dystrophy 3 [DOID:0110087] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22.

synonyms:
short-rib thoracic dysplasia 3 with or without polydactyly,
Verma-Naumoff syndrome,
ICD10CM:Q77.2,
short rib-polydactyly syndrome, type I,
SRPS2B,
ATD3,
613091,
OMIM:613091,
DOID:0050549,
SRPS1,
polydactyly with neonatal chondrodystrophy, type I,
Saldino-Noonan syndrome,
short rib-polydactyly syndrome, type IIB,
SRTD3,
SRPS3,
polydactyly with neonatal chondrodystrophy, type III

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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