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)

Parent Node:
Subretinal deposits (HP:0031528)

..Starting node
..Multifocal subretinal deposits (HP:0031530)

Term ID:

31530

Name:

Multifocal subretinal deposits

Synonym:

Definition:

Deposits accumulating between the outer retina and the retinal pigment epithelium and that are distributed with multiple foci.

Comments:

Reference:

HP:0031530

Genes and Diseases:

Child Nodes:

Sister Nodes:

Focal subretinal deposits (HP:0031529)

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:0031530	HP:0031530	Multifocal subretinal deposits	0	C1QTNF5 CL E G H	114902	14344	ORPHA:67042	Late-onset retinal degeneration	HP:0040282 - Frequent	20

Genes (1) :C1QTNF5

Diseases (1) :ORPHA:67042

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