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 cerebellum morphology (HP:0001317)

Parent Node:
Abnormal dentate nucleus morphology (HP:0100321)

..Starting node
..Atrophy of the dentate nucleus (HP:0007047)

Term ID:

7047

Name:

Atrophy of the dentate nucleus

Synonym:

Definition:

Partial or complete wasting (loss) of dentate nucleus.

Comments:

Reference:

HP:0007047

Genes and Diseases:

Child Nodes:

Sister Nodes:

Dense calcifications in the cerebellar dentate nucleus (HP:0002461)

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:0007047	HP:0007047	Atrophy of the dentate nucleus	0	ATN1 CL E G H	1822	3033	OMIM:125370	Dentatorubral-Pallidoluysian atrophy naito-oyanagi disease haw river syndrome ataxia, chorea, seizures, and dementia		16
HP:0007047	HP:0007047	Atrophy of the dentate nucleus	0	WDR81 CL E G H	124997	26600	OMIM:610185	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2	.	27

Genes (2) :ATN1 WDR81

Diseases (2) :OMIM:125370 OMIM:610185

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