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)

Parent Node:
Abnormal foveal morphology (HP:0000493)

..Starting node
..Ectopic fovea (HP:0025007)

Term ID:

25007

Name:

Ectopic fovea

Synonym:

Ectopic macula

Definition:

An abnormal anatomic position of the fovea, the small, central pit composed of closely packed cones that is located in the macula of the retina.

Comments:

Reference:

HP:0025007

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormality of foveal pigmentation (HP:0030493)

Absent foveal reflex (HP:0030825)

Aplasia/Hypoplasia of the fovea (HP:0008060)

Foveal atrophy (HP:0025010)

Foveal degeneration (HP:0025146)

Foveoschisis (HP:0012152)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0025007	HP:0025007	Ectopic fovea	0	FZD4 CL E G H	8322	4042	OMIM:133780	Exudative vitreoretinopathy 1	109
HP:0025007	HP:0025007	Ectopic fovea	0	LRP5 CL E G H	4041	6697	OMIM:133780	Exudative vitreoretinopathy 1	125

Genes (2) :FZD4 LRP5

Diseases (1) :OMIM:133780

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