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 cerebral white matter morphology (HP:0002500)

Parent Node:
Focal white matter lesions (HP:0007042)

Parent Node:
Hypointensity of cerebral white matter on MRI (HP:0007103)

..Starting node
..Focal hypointensity of cerebral white matter on MRI (HP:0040331)

Term ID:

40331

Name:

Focal hypointensity of cerebral white matter on MRI

Synonym:

Definition:

Comments:

Reference:

HP:0040331

Genes and Diseases:

Child Nodes:

Sister Nodes:

Confluent hypointensity of cerebral white matter on MRI (HP:0040333)

Deep white matter hypodensities (HP:0007321)

Multifocal hypointensity of cerebral white matter on MRI (HP:0040332)

Periventricular white matter hypodensities (HP:0012794)

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:0040331	HP:0040331	Focal hypointensity of cerebral white matter on MRI	0	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	HP:0040283 - Occasional	56
HP:0040331	HP:0040331	Focal hypointensity of cerebral white matter on MRI	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040283 - Occasional	362
HP:0040331	HP:0040331	Focal hypointensity of cerebral white matter on MRI	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040283 - Occasional	362

Genes (2) :TREX1 ZEB2

Diseases (3) :ORPHA:247691 ORPHA:261552 ORPHA:261537

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.