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 glial cell morphology (HP:0100705)

Parent Node:
Abnormality of the basal ganglia (HP:0002134)

Parent Node:
Gliosis (HP:0002171)

..Starting node
..Basal ganglia gliosis (HP:0006999)

Term ID:

6999

Name:

Basal ganglia gliosis

Synonym:

Gliosis in the basal ganglia

Definition:

Focal proliferation of glial cells in the basal ganglia.

Comments:

Reference:

HP:0006999

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cerebellar gliosis (HP:0012698)

Hypothalamic gliosis (HP:0025037)

Myelin-dependent gliosis (HP:0006990)

Substantia nigra gliosis (HP:0011960)

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:0006999	HP:0006999	Basal ganglia gliosis	0	ADAR CL E G H	103	225154				ORPHA	1	1122	225	146920
HP:0006999	HP:0006999	Basal ganglia gliosis	0	MT-ATP6 CL E G H	4508	225154				ORPHA	1		7414	516060
HP:0006999	HP:0006999	Basal ganglia gliosis	0	NUP62 CL E G H	23636	225154				ORPHA	1	161	8066	605815
HP:0006999	HP:0006999	Basal ganglia gliosis	0	PRNP CL E G H	5621	603218	Huntington disease-like 1	603218	C1864112	OMIM	1	191	9449	176640
HP:0006999	HP:0006999	Basal ganglia gliosis	0	SCO2 CL E G H	9997	604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency	604377	C1858424	OMIM	1	701	10604	604272
HP:0006999	HP:0006999	Basal ganglia gliosis	0	VRK1 CL E G H	7443	607596	Pontocerebellar hypoplasia type 1A	607596	CN032785	OMIM	1	461	12718	602168
HPO disease - gene - phenotype less frequent non-typical associations:

Genes (7) :ADAR ATP6 MT-ATP6 NUP62 PRNP SCO2 VRK1

Diseases (4) :225154 603218 604377 607596

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