Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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
..Dysplastic gangliocytoma of the cerebellum (HP:0500009)

Term ID:

500009

Name:

Dysplastic gangliocytoma of the cerebellum

Synonym:

LDD; Lhermitte-Duclos disease

Definition:

It is a rare, slowly growing tumor of the cerebellum, a gangliocytoma sometimes considered to be a hamartoma, characterized by diffuse hypertrophy of the granular layer of the cerebellum.

Comments:

Reference:

HP:0500009

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 edema (HP:0030915)

Cerebellar gliosis (HP:0012698)

Cerebellar hemangioblastoma (HP:0006880)

Cerebellar malformation (HP:0002438)

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:0500009	HP:0500009	Dysplastic gangliocytoma of the cerebellum	0	KLLN CL E G H	100144748	37212	OMIM:615107	Cowden syndrome 4		1
HP:0500009	HP:0500009	Dysplastic gangliocytoma of the cerebellum	0	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1	.	948

Genes (2) :KLLN PTEN

Diseases (2) :OMIM:615107 OMIM:158350

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

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