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Human Phenotype Ontology
Last uploaded:
August 13, 2024
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| Preferred Name | Abnormal cerebellum morphology | |
| Synonyms |
Cerebellar anomaly Cerebellar abnormality Cerebellar abnormalities Abnormality of the cerebellum Cerebellar signs |
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| Definitions |
Any structural abnormality of the cerebellum. 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. |
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| ID |
http://purl.obolibrary.org/obo/HP_0001317 |
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| 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.
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| database_cross_reference |
UMLS:C0742038 UMLS:C1866129
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| definition |
Any structural abnormality of the cerebellum.
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| has_exact_synonym |
Cerebellar anomaly Cerebellar abnormality Cerebellar abnormalities Abnormality of the cerebellum Cerebellar signs
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| has_obo_namespace |
human_phenotype
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| id |
HP:0001317
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| label |
Abnormal cerebellum morphology
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| notation |
HP:0001317
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| prefLabel |
Abnormal cerebellum morphology
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| treeView | ||
| subClassOf |
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