Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal metencephalon morphology (HP:0011283)

Parent Node:
Abnormal cerebellum morphology (HP:0001317)

..Starting node
..Cerebellar edema (HP:0030915)

Term ID:

30915

Name:

Cerebellar edema

Synonym:

Cerebellar oedema; Edema of the cerebellum; Oedema of the cerebellum

Definition:

Swelling from fluid accumulation (serous fluid infiltration into the interstitial space) in the cerebellum.

Comments:

Reference:

HP:0030915

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal cerebellar cortex morphology (HP:0031422)

Abnormal dentate nucleus morphology (HP:0100321)

Aplasia/Hypoplasia of the cerebellum (HP:0007360)

Ataxia (HP:0001251)

Cerebellar atrophy (HP:0001272)

Cerebellar calcifications (HP:0007352)

Cerebellar dysplasia (HP:0007033)

Cerebellar gliosis (HP:0012698)

Cerebellar hemangioblastoma (HP:0006880)

Cerebellar malformation (HP:0002438)

Dysplastic gangliocytoma of the cerebellum (HP:0500009)

Enlarged cerebellum (HP:0012081)

Fusion of the cerebellar hemispheres (HP:0006899)

Olivopontocerebellar atrophy (HP:0002542)

Recurrent subcortical infarcts (HP:0007236)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030915	HP:0030915	Cerebellar edema	0	NAXE CL E G H	128240	18453	OMIM:617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1	.	9
HP:0030915	HP:0030915	Cerebellar edema	0	SCN2A CL E G H	6326	10588	OMIM:618924	EPISODIC ATAXIA, TYPE 9; EA9		427

Genes (2) :NAXE SCN2A

Diseases (2) :OMIM:617186 OMIM:618924

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