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DO Term : Schwartz-Jampel syndrome 1 [DOID:0090005] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A syndrome characterized by neuromyotonia and chondrodysplasia that has_material_basis_in hypomorphic mutations in the HSPG2 gene on chromosome 1p36.

synonyms:
Catel-Hempel syndrome,
osteochondromuscular dystrophy,
myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies,
GARD:250,
Burton skeletal dysplasia,
OMIM:255800,
Catel-Hempel type dysostosis enchondralis metaepiphysaria,
myotonic chondrodystrophy,
Schwartz-Jampel syndrome type 1,
ORDO:800,
Schwartz-Jampel-Aberfeld syndrome,
Aberfeld syndrome,
Burton syndrome,
255800,
ICD10CM:G71.1

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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