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DO Term : congenital muscular dystrophy [DOID:0050557] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted.

synonyms:
SNOMEDCT_US_2023_03_01:193221009,
GARD:9138,
UMLS_CUI:C2937300,
ICD9CM:359.0,
254100,
ORDO:97242,
OMIM:254100

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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