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:
Atrophy/Degeneration affecting the cerebrum (HP:0007369)

Parent Node:
Abnormal globus pallidus morphology (HP:0002453)

Parent Node:
Subcortical cerebral atrophy (HP:0012157)

..Starting node
..Pallidal degeneration (HP:0007132)

Term ID:

7132

Name:

Pallidal degeneration

Synonym:

Definition:

Neurodegeneration involving the globus pallidus,a part of the basal ganglia that is involved in the regulation of voluntary movement.

Comments:

Reference:

HP:0007132

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0007132	HP:0007132	Pallidal degeneration	0	PANK2 CL E G H	80025	607236	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration	607236	C1846582	OMIM	1	499	15894	606157
HPO disease - gene - phenotype less frequent non-typical associations:

Genes (1) :PANK2

Diseases (1) :607236

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.