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
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- GARD:9138
- ICD9CM:359.0
- MIM:254100
- ORDO:97242
- SNOMEDCT_US_2023_03_01:193221009
- UMLS_CUI:C2937300
- Ontology
- Human Disease ( DOID:0050557 )
- is a type of
-
- has subtype
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Genes Involved
Zebrafish Models