Human Phenotype Ontology 
Grandparent Node:
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Abnormal metencephalon morphology (HP:0011283)help
Parent Node:
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Abnormal cerebellum morphology (HP:0001317)help
..Starting node
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Enlarged cerebellum (HP:0012081)help
Term ID: 12081
Name: Enlarged cerebellum
Synonym:
Definition: An abnormally increased size of the cerebellum compared to other brain structures.
Comments:
Reference: HP:0012081
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal cerebellar cortex morphology (HP:0031422) help
..expandAbnormal dentate nucleus morphology (HP:0100321) help
..expandAplasia/Hypoplasia of the cerebellum (HP:0007360) help
..expandAtaxia (HP:0001251) help
..expandCerebellar atrophy (HP:0001272) help
..expandCerebellar calcifications (HP:0007352) help
..expandCerebellar dysplasia (HP:0007033) help
..expandCerebellar edema (HP:0030915) help
..expandCerebellar gliosis (HP:0012698) help
..expandCerebellar hemangioblastoma (HP:0006880) help
..expandCerebellar malformation (HP:0002438) help
..expandDysplastic gangliocytoma of the cerebellum (HP:0500009) help
..expandFusion of the cerebellar hemispheres (HP:0006899) help
..expandOlivopontocerebellar atrophy (HP:0002542) help
..expandRecurrent subcortical infarcts (HP:0007236) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012081HP:0012081Enlarged cerebellum0BICRA CL E G H299984332OMIM:619325COFFIN-SIRIS SYNDROME 12; CSS122
HP:0012081HP:0012081Enlarged cerebellum0FGFR3 CL E G H22613690ORPHA:85165Severe achondroplasia-developmental delay-acanthosis nigricans syndromeHP:0040281 - Very frequent145
HP:0012081HP:0012081Enlarged cerebellum0HRAS CL E G H32655173OMIM:218040Costello syndrome.113
HP:0012081HP:0012081Enlarged cerebellum0KDM1A CL E G H2302829079ORPHA:477993Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndromeHP:0040283 - Occasional3
HP:0012081HP:0012081Enlarged cerebellum0PDCD6IP CL E G H100158766OMIM:620047
HP:0012081HP:0012081Enlarged cerebellum0PTEN CL E G H57289588ORPHA:65285Lhermitte-Duclos diseaseHP:0040281 - Very frequent948
HP:0012081HP:0012081Enlarged cerebellum0ZEB2 CL E G H983914881ORPHA:261552Mowat-Wilson syndrome due to a ZEB2 point mutationHP:0040284 - Very rare362
HP:0012081HP:0012081Enlarged cerebellum0ZEB2 CL E G H983914881ORPHA:261537Mowat-Wilson syndrome due to monosomy 2q22HP:0040284 - Very rare362


Genes (7) :BICRA FGFR3 HRAS KDM1A PDCD6IP PTEN ZEB2

Diseases (8) :OMIM:619325 ORPHA:85165 OMIM:218040 ORPHA:477993 OMIM:620047 ORPHA:65285 ORPHA:261552 ORPHA:261537
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.