Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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 fundus morphology (HP:0001098)

Parent Node:
Abnormal retinal morphology (HP:0000479)

..Starting node
..Subretinal deposits (HP:0031528)

Term ID:

31528

Name:

Subretinal deposits

Synonym:

Definition:

Deposits accumulating between the outer retina and the retinal pigment epithelium.

Comments:

Reference:

HP:0031528

Genes and Diseases:

Child Nodes:

........

Focal subretinal deposits (HP:0031529)

........

Multifocal subretinal deposits (HP:0031530)

Sister Nodes:

Abnormal chorioretinal morphology (HP:0000532)

Abnormal macular morphology (HP:0001103)

Abnormal retinal vascular morphology (HP:0008046)

Abnormality of retinal pigmentation (HP:0007703)

Angioid streaks of the fundus (HP:0001102)

Aplasia/Hypoplasia of the retina (HP:0008061)

Hypermyelinated retinal nerve fibers (HP:0007922)

Intraretinal fluid (HP:0031527)

Retinal coloboma (HP:0000480)

Retinal degeneration (HP:0000546)

Retinal detachment (HP:0000541)

Retinal dysplasia (HP:0007973)

Retinal dystrophy (HP:0000556)

Retinal fold (HP:0008052)

Retinal hamartoma (HP:0009594)

Retinal hemorrhage (HP:0000573)

Retinal infarction (HP:0007866)

Retinal neoplasm (HP:0012777)

Retinal perforation (HP:0011958)

Retinal thinning (HP:0030329)

Retinopathy (HP:0000488)

Retinoschisis (HP:0030502)

Sub-RPE deposits (HP:0031531)

Subretinal fluid (HP:0031526)

Yellow/white lesions of the retina (HP:0030506)

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:0031528	HP:0031528	Subretinal deposits	0	C1QTNF5 CL E G H	114902	14344	ORPHA:67042	Late-onset retinal degeneration		20
HP:0031528	HP:0031528	Subretinal deposits	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	57
HP:0031528	HP:0031528	Subretinal deposits	0	CYP4V2 CL E G H	285440	23198	ORPHA:41751	Bietti crystalline dystrophy	HP:0040282 - Frequent	126
HP:0031528	HP:0031528	Subretinal deposits	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	24
HP:0031528	HP:0031528	Subretinal deposits	0	TIMP3 CL E G H	7078	11822	ORPHA:59181	Sorsby pseudoinflammatory fundus dystrophy	HP:0040281 - Very frequent	95
HP:0031528	HP:0031529	Focal subretinal deposits	1	CL E G H
HP:0031528	HP:0031530	Multifocal subretinal deposits	1	C1QTNF5 CL E G H	114902	14344	ORPHA:67042	Late-onset retinal degeneration	HP:0040282 - Frequent	20

Genes (5) :C1QTNF5 CSPP1 CYP4V2 KIAA0586 TIMP3

Diseases (4) :ORPHA:67042 ORPHA:397715 ORPHA:41751 ORPHA:59181

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

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