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DO Term : centronuclear myopathy X-linked [DOID:0111225] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A centronuclear myopathy that has_material_basis_in X-linked inheritance of mutations in MTM1 on Xq28.

synonyms:
GARD:11925,
MTM1,
ICD10CM:G71.220,
XLMTM,
myotubular myopathy 1,
XLCNM,
OMIM:310400,
NCI:C118781,
X-linked myotubular myopathy,
SNOMEDCT_US_2023_03_01:46804001,
ORDO:596,
CNMX,
UMLS_CUI:C0410203,
MESH:D020914,
310400

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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