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 CNS myelination (HP:0011400)

Parent Node:
Leukodystrophy (HP:0002415)

..Starting node
..Metachromatic leukodystrophy variant (HP:0006926)

Term ID:

6926

Name:

Metachromatic leukodystrophy variant

Synonym:

Definition:

Comments:

Reference:

HP:0006926

Genes and Diseases:

Child Nodes:

Sister Nodes:

Dysmyelinating leukodystrophy (HP:0006978)

Sudanophilic leukodystrophy (HP:0003269)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0006926	HP:0006926	Metachromatic leukodystrophy variant	0	CL E G H

Genes (0) :

Diseases (0) :

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