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
..Absent retinal pigment epithelium (HP:0007980)

Term ID:

7980

Name:

Absent retinal pigment epithelium

Synonym:

Definition:

Comments:

Reference:

HP:0007980

Genes and Diseases:

Child Nodes:

Sister Nodes:

Achromatic retinal patches (HP:0009727)

Depigmented fundus (HP:0007680)

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:0007980	HP:0007980	Absent retinal pigment epithelium	0	GGCX CL E G H	2677	4247	ORPHA:436274	Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa	HP:0040281 - Very frequent	129
HP:0007980	HP:0007980	Absent retinal pigment epithelium	0	GUCA1A CL E G H	2978	4678	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040283 - Occasional	24
HP:0007980	HP:0007980	Absent retinal pigment epithelium	0	GUCY2D CL E G H	3000	4689	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040283 - Occasional	124
HP:0007980	HP:0007980	Absent retinal pigment epithelium	0	PRPH2 CL E G H	5961	9942	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040283 - Occasional	159

Genes (4) :GGCX GUCA1A GUCY2D PRPH2

Diseases (2) :ORPHA:436274 ORPHA:75377

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