OBO ID: DOID:0050557
Term Name: congenital muscular dystrophy Search Ontology:
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
  • OMIM:254100
  • ORDO:97242
  • SNOMEDCT_US_2020_09_01:193221009
  • UMLS_CUI:C2937300
Ontology: Human Disease   (DOID:0050557)
OTHER congenital muscular dystrophy PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS
Fish Conditions Citations
col6a1ama605003/ama605003(TU) standard conditions Radev et al., 2015
PHENOTYPE No data available

CITATIONS (4)