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 glial cell morphology (HP:0100705)

Parent Node:
Abnormal basal ganglia morphology (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	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0006999	HP:0006999	Basal ganglia gliosis	0	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent	116
HP:0006999	HP:0006999	Basal ganglia gliosis	0	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent
HP:0006999	HP:0006999	Basal ganglia gliosis	0	FARS2 CL E G H	10667	21062	OMIM:614946	Combined oxidative phosphorylation deficiency 14		36
HP:0006999	HP:0006999	Basal ganglia gliosis	0	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040283 - Occasional	8
HP:0006999	HP:0006999	Basal ganglia gliosis	0	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent	31
HP:0006999	HP:0006999	Basal ganglia gliosis	0	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent
HP:0006999	HP:0006999	Basal ganglia gliosis	0	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent	65
HP:0006999	HP:0006999	Basal ganglia gliosis	0	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent	7
HP:0006999	HP:0006999	Basal ganglia gliosis	0	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040283 - Occasional	88
HP:0006999	HP:0006999	Basal ganglia gliosis	0	PRNP CL E G H	5621	9449	OMIM:603218	Huntington disease-like 1		69
HP:0006999	HP:0006999	Basal ganglia gliosis	0	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1	.	40
HP:0006999	HP:0006999	Basal ganglia gliosis	0	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent	40
HP:0006999	HP:0006999	Basal ganglia gliosis	0	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent	73
HP:0006999	HP:0006999	Basal ganglia gliosis	0	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A	.	32

Genes (13) :ADAR ATP6 FARS2 LONP1 NDUFAF3 NDUFB8 NDUFS2 NUP62 PDHA1 PRNP SCO2 SURF1 VRK1

Diseases (7) :ORPHA:225154 OMIM:614946 ORPHA:79243 ORPHA:70474 OMIM:603218 OMIM:604377 OMIM:607596

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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