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:
Abnormality of thalamus morphology (HP:0010663)

Parent Node:
Abnormal thalamic MRI signal intensity (HP:0012696)

..Starting node
..Focal T2 hypointense thalamic lesion (HP:0012691)

Term ID:

12691

Name:

Focal T2 hypointense thalamic lesion

Synonym:

Definition:

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

Comments:

Reference:

HP:0012691

Genes and Diseases:

Child Nodes:

Sister Nodes:

Focal T2 hyperintense thalamic lesion (HP:0012692)

T2 hypointense thalamus (HP:0012690)

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:0012691	HP:0012691	Focal T2 hypointense thalamic lesion	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040282 - Frequent	54
HP:0012691	HP:0012691	Focal T2 hypointense thalamic lesion	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040282 - Frequent	184
HP:0012691	HP:0012691	Focal T2 hypointense thalamic lesion	0	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040282 - Frequent	220
HP:0012691	HP:0012691	Focal T2 hypointense thalamic lesion	0	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040282 - Frequent	9
HP:0012691	HP:0012691	Focal T2 hypointense thalamic lesion	0	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040282 - Frequent	162
HP:0012691	HP:0012691	Focal T2 hypointense thalamic lesion	0	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040282 - Frequent	87
HP:0012691	HP:0012691	Focal T2 hypointense thalamic lesion	0	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040282 - Frequent	47
HP:0012691	HP:0012691	Focal T2 hypointense thalamic lesion	0	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040282 - Frequent	22
HP:0012691	HP:0012691	Focal T2 hypointense thalamic lesion	0	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040282 - Frequent	124
HP:0012691	HP:0012691	Focal T2 hypointense thalamic lesion	0	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040282 - Frequent	238
HP:0012691	HP:0012691	Focal T2 hypointense thalamic lesion	0	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040282 - Frequent

Genes (11) :AKT1 BAP1 NF2 PDGFB PIK3CA SMARCB1 SMARCE1 SMO SUFU TERT TRAF7

Diseases (1) :ORPHA:2495

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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