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:
Color vision defect (HP:0000551)

Parent Node:
Dyschromatopsia (HP:0007641)

..Starting node
..Dichromacy (HP:0011518)

Term ID:

11518

Name:

Dichromacy

Synonym:

Definition:

Individuals affected by dichromacy possess only two types of cones, instead of three.

Comments:

Reference:

HP:0011518

Genes and Diseases:

Child Nodes:

........

Deuteranopia (HP:0011521)

........

Protanopia (HP:0011522)

Sister Nodes:

Anomalous trichromacy (HP:0011519)

Red-green dyschromatopsia (HP:0000642)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011518	HP:0011518	Dichromacy	0	CL E G H
HP:0011518	HP:0011522	Protanopia	1	CL E G H
HP:0011518	HP:0011521	Deuteranopia	1	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.