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:
Abnormal retinal morphology (HP:0000479)

Grandparent Node:
Fundus hemorrhage (HP:0031803)

Grandparent Node:
Hemorrhage of the eye (HP:0011885)

Parent Node:
Retinal hemorrhage (HP:0000573)

..Starting node
..Subretinal pigment epithelium hemorrhage (HP:0025244)

Term ID:

25244

Name:

Subretinal pigment epithelium hemorrhage

Synonym:

Subretinal pigment epithelium haemorrhage

Definition:

An accumulation of blood located between the retinal pigment epithelium (RPE) and Bruch's membrane.

Comments:

Reference:

HP:0025244

Genes and Diseases:

Child Nodes:

Sister Nodes:

Intraretinal hemorrhage (HP:0031805)

Macular hemorrhage (HP:0025574)

Sub-inner limiting membrane hemorrhage (HP:0031611)

Subretinal hemorrhage (HP:0025243)

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:0025244	HP:0025244	Subretinal pigment epithelium hemorrhage	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040282 - Frequent	140
HP:0025244	HP:0025244	Subretinal pigment epithelium hemorrhage	0	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040282 - Frequent	3
HP:0025244	HP:0025244	Subretinal pigment epithelium hemorrhage	0	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040282 - Frequent	2

Genes (3) :ATP6V0A2 ATP6V1A ATP6V1E1

Diseases (1) :ORPHA:357074

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