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 morphology (HP:0002060)

Parent Node:
Leukoencephalopathy (HP:0002352)

..Starting node
..Diffuse leukoencephalopathy (HP:0006994)

Term ID:

6994

Name:

Diffuse leukoencephalopathy

Synonym:

Definition:

Comments:

Reference:

HP:0006994

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal periventricular white matter morphology (HP:0002518)

Diffuse spongiform leukoencephalopathy (HP:0006943)

Posterior leukoencephalopathy (HP:0006859)

Progressive leukoencephalopathy (HP:0006980)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0006994	HP:0006994	Diffuse leukoencephalopathy	0	LMNB1 CL E G H	4001	169500	Leukodystrophy, adult-onset, autosomal dominant	169500	C1868512	OMIM	1	241	6637	150340
HPO disease - gene - phenotype less frequent non-typical associations:

Genes (1) :LMNB1

Diseases (1) :169500

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.