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DO Term : short-rib thoracic dysplasia 6 with or without polydactyly [DOID:0110092] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the NEK1 gene on chromosome 4q33.

synonyms:
ICD10CM:Q77.2,
short rib-polydactyly syndrome type IIA,
Majewski syndrome,
263520,
OMIM:263520,
SRPS2A,
SRTD6,
polydactyly with neonatal chondrodystrophy, type II

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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