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 cerebral subcortex morphology (HP:0010993)

Parent Node:
Abnormal basal ganglia morphology (HP:0002134)

..Starting node
..Neuronal loss in basal ganglia (HP:0200147)

Term ID:

200147

Name:

Neuronal loss in basal ganglia

Synonym:

Definition:

A reduction in the number of nerve cells in the basal ganglia.

Comments:

Reference:

HP:0200147

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal basal ganglia MRI signal intensity (HP:0012751)

Abnormal corpus striatum morphology (HP:0010994)

Abnormal globus pallidus morphology (HP:0002453)

Abnormal substantia nigra morphology (HP:0045007)

Basal ganglia calcification (HP:0002135)

Basal ganglia cysts (HP:0006799)

Basal ganglia edema (HP:0025039)

Basal ganglia gliosis (HP:0006999)

Basal ganglia necrosis (HP:0012128)

Bilateral basal ganglia lesions (HP:0007146)

Cavitation of the basal ganglia (HP:0007007)

Dysgenesis of the basal ganglia (HP:0025102)

Hemiballismus (HP:0100248)

Large basal ganglia (HP:0007048)

Small basal ganglia (HP:0012697)

Status cribrosum (HP:0025012)

Symmetric lesions of the basal ganglia (HP:0007039)

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:0200147	HP:0200147	Neuronal loss in basal ganglia	0	HTT CL E G H	3064	4851	ORPHA:248111	Juvenile Huntington disease	HP:0040282 - Frequent	12
HP:0200147	HP:0200147	Neuronal loss in basal ganglia	0	MAPT CL E G H	4137	6893	OMIM:601104	Supranuclear palsy, progressive, 1	.	140
HP:0200147	HP:0200147	Neuronal loss in basal ganglia	0	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional	31
HP:0200147	HP:0200147	Neuronal loss in basal ganglia	0	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional
HP:0200147	HP:0200147	Neuronal loss in basal ganglia	0	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional	65
HP:0200147	HP:0200147	Neuronal loss in basal ganglia	0	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1	.	40
HP:0200147	HP:0200147	Neuronal loss in basal ganglia	0	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional	40
HP:0200147	HP:0200147	Neuronal loss in basal ganglia	0	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional	73
HP:0200147	HP:0200147	Neuronal loss in basal ganglia	0	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A	.	32

Genes (8) :HTT MAPT NDUFAF3 NDUFB8 NDUFS2 SCO2 SURF1 VRK1

Diseases (5) :ORPHA:248111 OMIM:601104 ORPHA:70474 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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