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

..Starting node
..Deep cerebral white matter hyperintensities (HP:0030892)

Term ID:

30892

Name:

Deep cerebral white matter hyperintensities

Synonym:

DWMH

Definition:

Areas of brighter than expected signal on magnetic resonance imaging emanating from locations distant from the ventricular system.

Comments:

Reference:

HP:0030892

Genes and Diseases:

Child Nodes:

Sister Nodes:

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

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:0030892	HP:0030892	Deep cerebral white matter hyperintensities	0	HTRA1 CL E G H	5654	9476	ORPHA:199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy		34
HP:0030892	HP:0030892	Deep cerebral white matter hyperintensities	0	ZFYVE26 CL E G H	23503	20761	ORPHA:100996	Autosomal recessive spastic paraplegia type 15	HP:0040282 - Frequent	189

Genes (2) :HTRA1 ZFYVE26

Diseases (2) :ORPHA:199354 ORPHA:100996

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