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DO Term : centronuclear myopathy 2 [DOID:0111220] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

An autosomal recessive centronuclear myopathy that has_material_basis_in homozygous or compound heterozygous mutation in BIN1 on 2q14.3.

synonyms:
UMLS_CUI:C0410204,
OMIM:255200,
CNM2,
SNOMEDCT_US_2023_03_01:240081004,
MESH:C562934,
255200

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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