loading...| Preferred Name |
congenital muscular dystrophy |
| Definitions |
Xref MGI. OMIM mapping confirmed by DO. [SN]. 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. |
| ID |
http://purl.obolibrary.org/obo/DOID_0050557 |
| comment |
Xref MGI. OMIM mapping confirmed by DO. [SN]. |
| database_cross_reference |
OMIM:254100 ORDO:97242 ICD9CM:359.0 UMLS_CUI:C2937300 SNOMEDCT_US_2022_09_01:193221009 GARD:9138 |
| 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. |
| disease has basis in | |
| has symptom | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0050557 |
| in_subset | |
| label |
congenital muscular dystrophy |
| notation |
DOID:0050557 |
| prefLabel |
congenital muscular dystrophy |
| subClassOf |