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:
Hamartoma of the eye (HP:0010568)

Parent Node:
Retinal hamartoma (HP:0009594)

..Starting node
..Retinal cavernous hemangioma (HP:0030508)

Term ID:

30508

Name:

Retinal cavernous hemangioma

Synonym:

Retinal cavernous haemangioma

Definition:

Comments:

Reference:

HP:0030508

Genes and Diseases:

Child Nodes:

Sister Nodes:

Combined hamartoma of the retinal pigment epithelium and retina (HP:0030510)

Retinal astrocytic hamartoma (HP:0012778)

Retinal capillary hemangioma (HP:0009711)

Retinal racemose hemangioma (HP:0030509)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030508	HP:0030508	Retinal cavernous hemangioma	0	CL E G H

Genes (0) :

Diseases (0) :

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