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:
Retinal degeneration (HP:0000546)

Parent Node:
Retinal atrophy (HP:0001105)

..Starting node
..Geographic atrophy (HP:0031609)

Term ID:

31609

Name:

Geographic atrophy

Synonym:

Definition:

Sharply demarcated area of partial or complete depigmentation of the fundus reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss. The margins of the de-pigmented area are usually scalloped and the large choroidal vessels are visible through the atrophic retinal pigment epithelium.

Comments:

Reference:

HP:0031609

Genes and Diseases:

Child Nodes:

Sister Nodes:

Macular atrophy (HP:0007401)

Peripheral retinal atrophy (HP:0200070)

Retinal pigment epithelial atrophy (HP:0007722)

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:0031609	HP:0031609	Geographic atrophy	0	APOE CL E G H	348	613	OMIM:603075	Macular degeneration, age-related, 1		39
HP:0031609	HP:0031609	Geographic atrophy	0	CFHR1 CL E G H	3078	4888	OMIM:603075	Macular degeneration, age-related, 1
HP:0031609	HP:0031609	Geographic atrophy	0	CFHR3 CL E G H	10878	16980	OMIM:603075	Macular degeneration, age-related, 1
HP:0031609	HP:0031609	Geographic atrophy	0	HMCN1 CL E G H	83872	19194	OMIM:603075	Macular degeneration, age-related, 1		262
HP:0031609	HP:0031609	Geographic atrophy	0	IMPDH1 CL E G H	3614	6052	OMIM:180105	Retinitis pigmentosa 10	.	52
HP:0031609	HP:0031609	Geographic atrophy	0	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA		15

Genes (6) :APOE CFHR1 CFHR3 HMCN1 IMPDH1 NMNAT1

Diseases (3) :OMIM:603075 OMIM:180105 OMIM:619260

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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