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:
Abnormality of fundus pigmentation (HP:0031605)

Parent Node:
Hypopigmentation of the fundus (HP:0007894)

..Starting node
..Depigmented fundus (HP:0007680)

Term ID:

7680

Name:

Depigmented fundus

Synonym:

Definition:

Comments:

Reference:

HP:0007680

Genes and Diseases:

Child Nodes:

Sister Nodes:

Absent retinal pigment epithelium (HP:0007980)

Achromatic retinal patches (HP:0009727)

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:0007680	HP:0007680	Depigmented fundus	0	GPR143 CL E G H	4935	20145	OMIM:300500	Albinism, ocular, type I	.	64

Genes (1) :GPR143

Diseases (1) :OMIM:300500

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