Search Ontology:
Human Disease

congenital muscular dystrophy

Term ID
DOID:0050557
Synonyms
Definition
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. (2)
References
  • GARD:9138
  • ICD9CM:359.0
  • MIM:254100
  • ORDO:97242
  • SNOMEDCT_US_2023_03_01:193221009
  • UMLS_CUI:C2937300
Ontology
Human Disease   ( DOID:0050557 )
Relationships
is a type of
has subtype
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Genes Involved
Zebrafish Models