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)

Parent Node:
Multifocal cerebral white matter abnormalities (HP:0007052)

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

Term ID:

40329

Name:

Multifocal hyperintensity of cerebral white matter on MRI

Synonym:

Definition:

An abnormal area of increased brightness (hyperintensity) that occurs in several distinct areas.

Comments:

Reference:

HP:0040329

Genes and Diseases:

Child Nodes:

Sister Nodes:

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	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0040329	HP:0040329	Multifocal hyperintensity of cerebral white matter on MRI	0	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset	HP:0040281 - Very frequent	407
HP:0040329	HP:0040329	Multifocal hyperintensity of cerebral white matter on MRI	0	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy	HP:0040281 - Very frequent	144
HP:0040329	HP:0040329	Multifocal hyperintensity of cerebral white matter on MRI	0	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	HP:0040283 - Occasional	1

Genes (3) :GAA NOTCH3 PUS3

Diseases (3) :ORPHA:308552 ORPHA:136 ORPHA:488627

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