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 basal ganglia morphology (HP:0002134)

Parent Node:
Abnormal basal ganglia MRI signal intensity (HP:0012751)

..Starting node
..Focal T2 hyperintense basal ganglia lesion (HP:0007183)

Term ID:

7183

Name:

Focal T2 hyperintense basal ganglia lesion

Synonym:

Hyperintense lesions in the basal ganglia on MRI

Definition:

A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hyperintensity affecting a particular region of the basal ganglia.

Comments:

Reference:

HP:0007183

Genes and Diseases:

Child Nodes:

Sister Nodes:

Focal T2 hypointense basal ganglia lesion (HP:0012752)

T2 hypointense basal ganglia (HP:0012753)

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:0007183	HP:0007183	Focal T2 hyperintense basal ganglia lesion	0	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii		46
HP:0007183	HP:0007183	Focal T2 hyperintense basal ganglia lesion	0	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0007183	HP:0007183	Focal T2 hyperintense basal ganglia lesion	0	COQ2 CL E G H	27235	25223	ORPHA:255249	Leigh syndrome with nephrotic syndrome	HP:0040282 - Frequent	54
HP:0007183	HP:0007183	Focal T2 hyperintense basal ganglia lesion	0	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040281 - Very frequent	104
HP:0007183	HP:0007183	Focal T2 hyperintense basal ganglia lesion	0	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040281 - Very frequent	33
HP:0007183	HP:0007183	Focal T2 hyperintense basal ganglia lesion	0	ETHE1 CL E G H	23474	23287	OMIM:602473	Encephalopathy, ethylmalonic	.	42
HP:0007183	HP:0007183	Focal T2 hyperintense basal ganglia lesion	0	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040281 - Very frequent	61
HP:0007183	HP:0007183	Focal T2 hyperintense basal ganglia lesion	0	GFAP CL E G H	2670	4235	ORPHA:363717	Alexander disease type I		188
HP:0007183	HP:0007183	Focal T2 hyperintense basal ganglia lesion	0	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040281 - Very frequent	21
HP:0007183	HP:0007183	Focal T2 hyperintense basal ganglia lesion	0	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	HP:0040282 - Frequent	191
HP:0007183	HP:0007183	Focal T2 hyperintense basal ganglia lesion	0	MECR CL E G H	51102	19691	ORPHA:508093	MEPAN syndrome		6
HP:0007183	HP:0007183	Focal T2 hyperintense basal ganglia lesion	0	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040281 - Very frequent	29
HP:0007183	HP:0007183	Focal T2 hyperintense basal ganglia lesion	0	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0007183	HP:0007183	Focal T2 hyperintense basal ganglia lesion	0	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0007183	HP:0007183	Focal T2 hyperintense basal ganglia lesion	0	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0007183	HP:0007183	Focal T2 hyperintense basal ganglia lesion	0	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0007183	HP:0007183	Focal T2 hyperintense basal ganglia lesion	0	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0007183	HP:0007183	Focal T2 hyperintense basal ganglia lesion	0	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0007183	HP:0007183	Focal T2 hyperintense basal ganglia lesion	0	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040281 - Very frequent	91
HP:0007183	HP:0007183	Focal T2 hyperintense basal ganglia lesion	0	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040281 - Very frequent	7
HP:0007183	HP:0007183	Focal T2 hyperintense basal ganglia lesion	0	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040281 - Very frequent	3
HP:0007183	HP:0007183	Focal T2 hyperintense basal ganglia lesion	0	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040281 - Very frequent	19
HP:0007183	HP:0007183	Focal T2 hyperintense basal ganglia lesion	0	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040281 - Very frequent	4
HP:0007183	HP:0007183	Focal T2 hyperintense basal ganglia lesion	0	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040281 - Very frequent	27
HP:0007183	HP:0007183	Focal T2 hyperintense basal ganglia lesion	0	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040281 - Very frequent	26
HP:0007183	HP:0007183	Focal T2 hyperintense basal ganglia lesion	0	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040281 - Very frequent	34
HP:0007183	HP:0007183	Focal T2 hyperintense basal ganglia lesion	0	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040281 - Very frequent	39
HP:0007183	HP:0007183	Focal T2 hyperintense basal ganglia lesion	0	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040281 - Very frequent	81
HP:0007183	HP:0007183	Focal T2 hyperintense basal ganglia lesion	0	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040281 - Very frequent	65
HP:0007183	HP:0007183	Focal T2 hyperintense basal ganglia lesion	0	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040281 - Very frequent	22
HP:0007183	HP:0007183	Focal T2 hyperintense basal ganglia lesion	0	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040281 - Very frequent	27
HP:0007183	HP:0007183	Focal T2 hyperintense basal ganglia lesion	0	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1		27
HP:0007183	HP:0007183	Focal T2 hyperintense basal ganglia lesion	0	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040281 - Very frequent	38
HP:0007183	HP:0007183	Focal T2 hyperintense basal ganglia lesion	0	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040281 - Very frequent	42
HP:0007183	HP:0007183	Focal T2 hyperintense basal ganglia lesion	0	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040281 - Very frequent	74
HP:0007183	HP:0007183	Focal T2 hyperintense basal ganglia lesion	0	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040281 - Very frequent	27
HP:0007183	HP:0007183	Focal T2 hyperintense basal ganglia lesion	0	PDE10A CL E G H	10846	8772	ORPHA:494541	Childhood-onset benign chorea with striatal involvement		5
HP:0007183	HP:0007183	Focal T2 hyperintense basal ganglia lesion	0	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040281 - Very frequent	88
HP:0007183	HP:0007183	Focal T2 hyperintense basal ganglia lesion	0	PDSS2 CL E G H	57107	23041	ORPHA:255249	Leigh syndrome with nephrotic syndrome	HP:0040282 - Frequent	54
HP:0007183	HP:0007183	Focal T2 hyperintense basal ganglia lesion	0	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040281 - Very frequent	6
HP:0007183	HP:0007183	Focal T2 hyperintense basal ganglia lesion	0	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease	HP:0040282 - Frequent	69
HP:0007183	HP:0007183	Focal T2 hyperintense basal ganglia lesion	0	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040281 - Very frequent	304
HP:0007183	HP:0007183	Focal T2 hyperintense basal ganglia lesion	0	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040281 - Very frequent	110
HP:0007183	HP:0007183	Focal T2 hyperintense basal ganglia lesion	0	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11	HP:0040283 - Occasional	287
HP:0007183	HP:0007183	Focal T2 hyperintense basal ganglia lesion	0	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)		60
HP:0007183	HP:0007183	Focal T2 hyperintense basal ganglia lesion	0	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040281 - Very frequent	73
HP:0007183	HP:0007183	Focal T2 hyperintense basal ganglia lesion	0	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040281 - Very frequent	23
HP:0007183	HP:0007183	Focal T2 hyperintense basal ganglia lesion	0	TACO1 CL E G H	51204	24316	OMIM:619052	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 8; MC4DN8		23
HP:0007183	HP:0007183	Focal T2 hyperintense basal ganglia lesion	0	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0007183	HP:0007183	Focal T2 hyperintense basal ganglia lesion	0	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0007183	HP:0007183	Focal T2 hyperintense basal ganglia lesion	0	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0007183	HP:0007183	Focal T2 hyperintense basal ganglia lesion	0	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0007183	HP:0031206	Striatal T2 hyperintensity	1	MECR CL E G H	51102	19691	ORPHA:508093	MEPAN syndrome		6
HP:0007183	HP:0031206	Striatal T2 hyperintensity	1	PDE10A CL E G H	10846	8772	ORPHA:494541	Childhood-onset benign chorea with striatal involvement	HP:0040282 - Frequent	5

Genes (50) :ALG2 ATP6 COQ2 COX15 ECHS1 ETHE1 FOXRED1 GFAP LIPT1 LRPPRC MECR MTFMT ND1 ND2 ND3 ND4 ND5 ND6 NDUFA10 NDUFA12 NDUFA13 NDUFA2 NDUFA4 NDUFA9 NDUFAF2 NDUFAF5 NDUFAF6 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS7 NDUFS8 NDUFV1 NDUFV2 PDE10A PDHA1 PDSS2 PET100 PRNP SDHA SLC19A3 SPG11 SUCLG1 SURF1 TACO1 TRNK TRNL1 TRNV TRNW

Diseases (14) :OMIM:607906 ORPHA:255210 ORPHA:255249 ORPHA:255241 OMIM:602473 ORPHA:363717 ORPHA:70472 ORPHA:508093 OMIM:252010 ORPHA:494541 ORPHA:282166 ORPHA:2822 OMIM:245400 OMIM:619052

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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