Preferred Name |
Cerebellar Hypoplasia |
|
Synonyms |
|
|
ID |
http://purl.bioontology.org/ontology/MESH/C562568 |
|
cui |
C0266470 |
|
Has mapping qualifier | ||
HM |
D002658 D009421 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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