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
..Periventricular white matter hypodensities (HP:0012794)

Term ID:

12794

Name:

Periventricular white matter hypodensities

Synonym:

Periventricular cerebral white matter hypodensities

Definition:

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

Comments:

Reference:

HP:0012794

Genes and Diseases:

Child Nodes:

Sister Nodes:

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

Deep white matter hypodensities (HP:0007321)

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

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

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012794	HP:0012794	Periventricular white matter hypodensities	0	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome	HP:0040283 - Occasional

Genes (1) :FDXR

Diseases (1) :ORPHA:543470

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

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