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 macular morphology (HP:0001103)

Grandparent Node:
Retinal degeneration (HP:0000546)

Parent Node:
Abnormal foveal morphology (HP:0000493)

Parent Node:
Macular degeneration (HP:0000608)

..Starting node
..Foveal degeneration (HP:0025146)

Term ID:

25146

Name:

Foveal degeneration

Synonym:

Definition:

Deterioration of the tissue of the fovea, i.e.,the region of sharpest vision within the macula of the retina.

Comments:

Reference:

HP:0025146

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cystoid macular degeneration (HP:0008028)

Macular atrophy (HP:0007401)

obsolete Age-related macular degeneration (HP:0007868)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0025146	HP:0025146	Foveal degeneration	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.