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:
Retinal dystrophy (HP:0000556)

Parent Node:
Rod-cone dystrophy (HP:0000510)

..Starting node
..Sectoral retinitis pigmentosa (HP:0031172)

Term ID:

31172

Name:

Sectoral retinitis pigmentosa

Synonym:

Definition:

A variant of retinitis pigmentosa in which there is a regional distribution of the retinal degeneration.

Comments:

Reference:

HP:0031172

Genes and Diseases:

Child Nodes:

Sister Nodes:

Pericentral retinitis pigmentosa (HP:0007947)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031172	HP:0031172	Sectoral retinitis pigmentosa	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.