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

..Starting node
..Deep white matter hypodensities (HP:0007321)

Term ID:

7321

Name:

Deep white matter hypodensities

Synonym:

Deep cerebral white matter hypodensities

Definition:

Multiple areas of darker than expected signal on magnetic resonance imaging emanating from the deep cerebral white matter.

Comments:

Reference:

HP:0007321

Genes and Diseases:

Child Nodes:

Sister Nodes:

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

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

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:0007321	HP:0007321	Deep white matter hypodensities	0	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39	HP:0040282 - Frequent	43
HP:0007321	HP:0007321	Deep white matter hypodensities	0	SAMHD1 CL E G H	25939	15925	OMIM:612952	Aicardi-Goutieres syndrome 5	.	55
HP:0007321	HP:0007321	Deep white matter hypodensities	0	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1	.	56

Genes (3) :GFM2 SAMHD1 TREX1

Diseases (3) :ORPHA:565624 OMIM:612952 OMIM:225750

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