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 degeneration (HP:0000546)

Parent Node:
Retinal atrophy (HP:0001105)

..Starting node
..Peripheral retinal atrophy (HP:0200070)

Term ID:

200070

Name:

Peripheral retinal atrophy

Synonym:

Wasting of the outer part of the retina

Definition:

Comments:

Reference:

HP:0200070

Genes and Diseases:

Child Nodes:

Sister Nodes:

Geographic atrophy (HP:0031609)

Macular atrophy (HP:0007401)

Retinal pigment epithelial atrophy (HP:0007722)

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:0200070	HP:0200070	Peripheral retinal atrophy	0	LOC111365204 CL E G H	111365204		OMIM:136550	Macular dystrophy, retinal, 1, north Carolina type	.
HP:0200070	HP:0200070	Peripheral retinal atrophy	0	MERTK CL E G H	10461	7027	OMIM:613862	Retinitis pigmentosa 38	.	75
HP:0200070	HP:0200070	Peripheral retinal atrophy	0	RBP4 CL E G H	5950	9922	OMIM:615147	Retinal dystrophy, iris coloboma, and comedogenic acne syndrome	.	8
HP:0200070	HP:0200070	Peripheral retinal atrophy	0	SLC6A6 CL E G H	6533	11052	OMIM:145350	Hypotaurinemic retinal degeneration and cardiomyopathy

Genes (4) :LOC111365204 MERTK RBP4 SLC6A6

Diseases (4) :OMIM:136550 OMIM:613862 OMIM:615147 OMIM:145350

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