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:
Hyperintensity of cerebral white matter on MRI (HP:0030890)

..Starting node
..Focal hyperintensity of cerebral white matter on MRI (HP:0040328)

Term ID:

40328

Name:

Focal hyperintensity of cerebral white matter on MRI

Synonym:

Definition:

An abnormal area of increased brightness (hyperintensity) that is limited to one particular area.

Comments:

Reference:

HP:0040328

Genes and Diseases:

Child Nodes:

Sister Nodes:

Confluent hyperintensity of cerebral white matter on MRI (HP:0040330)

Deep cerebral white matter hyperintensities (HP:0030892)

Multifocal hyperintensity of cerebral white matter on MRI (HP:0040329)

Periventricular white matter hyperintensities (HP:0030891)

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:0040328	HP:0040328	Focal hyperintensity of cerebral white matter on MRI	0	PDP1 CL E G H	54704	9279	ORPHA:79246	Pyruvate dehydrogenase phosphatase deficiency	HP:0040282 - Frequent	52
HP:0040328	HP:0040328	Focal hyperintensity 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

Genes (2) :PDP1 TREX1

Diseases (2) :ORPHA:79246 ORPHA:247691

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