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 brainstem morphology (HP:0002363)

Parent Node:
Abnormal brainstem MRI signal intensity (HP:0012747)

..Starting node
..Focal T2 hyperintense brainstem lesion (HP:0012748)

Term ID:

12748

Name:

Focal T2 hyperintense brainstem lesion

Synonym:

Definition:

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

Comments:

Reference:

HP:0012748

Genes and Diseases:

Child Nodes:

Sister Nodes:

Focal T2 hypointense brainstem lesion (HP:0012749)

T2 hypointense brainstem (HP:0012750)

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:0012748	HP:0012748	Focal T2 hyperintense brainstem lesion	0	CCM2 CL E G H	83605	21708	ORPHA:221061	Familial cerebral cavernous malformation	HP:0040282 - Frequent	37
HP:0012748	HP:0012748	Focal T2 hyperintense brainstem lesion	0	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	61
HP:0012748	HP:0012748	Focal T2 hyperintense brainstem lesion	0	KRIT1 CL E G H	889	1573	ORPHA:221061	Familial cerebral cavernous malformation	HP:0040282 - Frequent	92
HP:0012748	HP:0012748	Focal T2 hyperintense brainstem lesion	0	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0012748	HP:0012748	Focal T2 hyperintense brainstem lesion	0	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0012748	HP:0012748	Focal T2 hyperintense brainstem lesion	0	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0012748	HP:0012748	Focal T2 hyperintense brainstem lesion	0	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	7
HP:0012748	HP:0012748	Focal T2 hyperintense brainstem lesion	0	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	32
HP:0012748	HP:0012748	Focal T2 hyperintense brainstem lesion	0	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	1
HP:0012748	HP:0012748	Focal T2 hyperintense brainstem lesion	0	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	40
HP:0012748	HP:0012748	Focal T2 hyperintense brainstem lesion	0	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	26
HP:0012748	HP:0012748	Focal T2 hyperintense brainstem lesion	0	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	31
HP:0012748	HP:0012748	Focal T2 hyperintense brainstem lesion	0	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	50
HP:0012748	HP:0012748	Focal T2 hyperintense brainstem lesion	0	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	34
HP:0012748	HP:0012748	Focal T2 hyperintense brainstem lesion	0	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0012748	HP:0012748	Focal T2 hyperintense brainstem lesion	0	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0012748	HP:0012748	Focal T2 hyperintense brainstem lesion	0	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	3
HP:0012748	HP:0012748	Focal T2 hyperintense brainstem lesion	0	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	9
HP:0012748	HP:0012748	Focal T2 hyperintense brainstem lesion	0	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	16
HP:0012748	HP:0012748	Focal T2 hyperintense brainstem lesion	0	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	81
HP:0012748	HP:0012748	Focal T2 hyperintense brainstem lesion	0	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	65
HP:0012748	HP:0012748	Focal T2 hyperintense brainstem lesion	0	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	22
HP:0012748	HP:0012748	Focal T2 hyperintense brainstem lesion	0	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	27
HP:0012748	HP:0012748	Focal T2 hyperintense brainstem lesion	0	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	21
HP:0012748	HP:0012748	Focal T2 hyperintense brainstem lesion	0	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	38
HP:0012748	HP:0012748	Focal T2 hyperintense brainstem lesion	0	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	42
HP:0012748	HP:0012748	Focal T2 hyperintense brainstem lesion	0	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	74
HP:0012748	HP:0012748	Focal T2 hyperintense brainstem lesion	0	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	27
HP:0012748	HP:0012748	Focal T2 hyperintense brainstem lesion	0	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	89
HP:0012748	HP:0012748	Focal T2 hyperintense brainstem lesion	0	PDCD10 CL E G H	11235	8761	ORPHA:221061	Familial cerebral cavernous malformation	HP:0040282 - Frequent	21
HP:0012748	HP:0012748	Focal T2 hyperintense brainstem lesion	0	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	1
HP:0012748	HP:0012748	Focal T2 hyperintense brainstem lesion	0	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	4

Genes (32) :CCM2 FOXRED1 KRIT1 ND1 ND2 ND3 NDUFA1 NDUFA11 NDUFA6 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NUBPL PDCD10 TIMMDC1 TMEM126B

Diseases (2) :ORPHA:221061 ORPHA:2609

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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