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:
Chorioretinal degeneration (HP:0200065)

Parent Node:
Chorioretinal atrophy (HP:0000533)

..Starting node
..Paravenous chorioretinal atrophy (HP:0007903)

Term ID:

7903

Name:

Paravenous chorioretinal atrophy

Synonym:

Definition:

Chorioretinal atrophy along the retinal veins.

Comments:

Reference:

HP:0007903

Genes and Diseases:

Child Nodes:

Sister Nodes:

Choriocapillaris atrophy (HP:0030491)

Peripapillary chorioretinal atrophy (HP:0007950)

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:0007903	HP:0007903	Paravenous chorioretinal atrophy	0	CRB1 CL E G H	23418	2343	OMIM:172870	Pigmented paravenous chorioretinal atrophy	.	156

Genes (1) :CRB1

Diseases (1) :OMIM:172870

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