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:
Diffuse white matter abnormalities (HP:0007204)

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

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

Term ID:

40330

Name:

Confluent hyperintensity of cerebral white matter on MRI

Synonym:

Definition:

Areas of brighter than expected MRI signal in the white matter of the brain whereby individual patches run together.

Comments:

Reference:

HP:0040330

Genes and Diseases:

Child Nodes:

Sister Nodes:

Deep cerebral white matter hyperintensities (HP:0030892)

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

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:0040330	HP:0040330	Confluent hyperintensity of cerebral white matter on MRI	0	PLP1 CL E G H	5354	9086	ORPHA:280219	Pelizaeus-Merzbacher disease, classic form	HP:0040281 - Very frequent	60
HP:0040330	HP:0040330	Confluent hyperintensity of cerebral white matter on MRI	0	PLP1 CL E G H	5354	9086	ORPHA:280210	Pelizaeus-Merzbacher disease, connatal form	HP:0040282 - Frequent	60

Genes (1) :PLP1

Diseases (2) :ORPHA:280219 ORPHA:280210

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