Combined Phenotype Ontology

Last uploaded: November 18, 2021
Preferred Name

Abnormal cerebellum morphology

Synonyms

Abnormality of the cerebellum

Cerebellar abnormality

Cerebellar anomaly

Cerebellar abnormalities

Cerebellar signs

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:C0742038

UMLS:C1866129

definition

Any structural abnormality of the cerebellum.

has exact synonym

Abnormality of the cerebellum

Cerebellar abnormality

Cerebellar anomaly

Cerebellar abnormalities

Cerebellar signs

id

HP:0001317

label

Abnormal cerebellum morphology

notation

HP:0001317

prefLabel

Abnormal cerebellum morphology

subClassOf

http://purl.obolibrary.org/obo/HP_0011283

Delete Subject Author Type Created
No notes to display