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loading...| Preferred Name |
Cerebellar Hypoplasia |
| ID |
http://purl.bioontology.org/ontology/MESH/C562568 |
| cui |
C0266470 |
| Has mapping qualifier | |
| HM |
D009421 D002658 D002531/Q000002 |
| Inverse of RB |
0 |
| Mapped to |
http://purl.bioontology.org/ontology/MESH/D009421 |
| MDA |
20121105 |
| MeSH Frequency |
173 |
| MMR |
20150818 |
| notation |
C562568 |
| prefLabel |
Cerebellar Hypoplasia |
| SC |
3 |
| Scope Statement |
A rare congenital abnormality where the cerebellum is either absent or is significantly smaller than average. Affected individuals may have nystagmus, HYPOTONIA; ATAXIA; TREMOR; SEIZURES, and INTELLECTUAL DISABILITIES. Familial studies suggest autosomal recessive inheritance. OMIM: 213000 |
| TERMUI |
T800956 |
| TH |
OMIM (2013) |
| tui |
T019 |
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