loading...| Preferred Name |
Abnormal cerebellum morphology |
| Synonyms |
Cerebellar anomaly Cerebellar signs Cerebellar abnormalities Cerebellar abnormality Abnormality of the cerebellum |
| Definitions |
A malformed cerebellum may be abnormally small, dysplastic, or unusually large. The vermis and both hemispheres may be equally or disproportionately affected. Primary malformations of the pons, midbrain, and supratentorial structures are also seen in a substantial subset of patients. The wide range in morphological presentations results from the diversity of causes, including chromosomal abnormalities, specific genetic syndromes, and extrinsic factors. Any structural abnormality of the cerebellum. |
| ID |
http://purl.obolibrary.org/obo/HP_0001317 |
| comment |
A malformed cerebellum may be abnormally small, dysplastic, or unusually large. The vermis and both hemispheres may be equally or disproportionately affected. Primary malformations of the pons, midbrain, and supratentorial structures are also seen in a substantial subset of patients. The wide range in morphological presentations results from the diversity of causes, including chromosomal abnormalities, specific genetic syndromes, and extrinsic factors. |
| database_cross_reference |
UMLS:C1866129 UMLS:C0742038 |
| definition |
Any structural abnormality of the cerebellum. |
| has_exact_synonym |
Cerebellar anomaly Cerebellar signs Cerebellar abnormalities Cerebellar abnormality Abnormality of the cerebellum |
| has_obo_namespace |
human_phenotype |
| id |
HP:0001317 |
| label |
Abnormal cerebellum morphology |
| notation |
HP:0001317 |
| prefLabel |
Abnormal cerebellum morphology |
| treeView | |
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/HP_0001317 | Human Disease Ontology 123 | LOOM | |
| http://purl.obolibrary.org/obo/HP_0001317 | Human Disease Ontology 123 | SAME_URI |