| Metadata | |
|---|---|
| ID | DOID:0050557 |
| Name | congenital muscular dystrophy |
| 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. https://www.ninds.nih.gov/health-information/disorders/muscular-dystrophy, http://rarediseases.org/rare-diseases/congenital-muscular-dystrophy/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:193221009 |
| Subsets |
DO_rare_slim |
| Parent Relationships |
is_a muscular dystrophy is_a physical disorder |
| Subclass Logical Relationships |
has symptom some progressive weakness disease has basis in some Abnormality of prenatal development or birth has symptom some muscle weakness |