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:
Abnormal macular morphology (HP:0001103)

Parent Node:
Retinal perforation (HP:0011958)

..Starting node
..Macular hole (HP:0011508)

Term ID:

11508

Name:

Macular hole

Synonym:

Definition:

A macular hole is a small break in the macula, located in the center of the retina.

Comments:

Reference:

HP:0011508

Genes and Diseases:

Child Nodes:

........

Full-thickness macular hole (HP:0031152)

Sister Nodes:

Retinal hole (HP:0011530)

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:0011508	HP:0011508	Macular hole	0	GUCA1A CL E G H	2978	4678	ORPHA:75377	Central areolar choroidal dystrophy		24
HP:0011508	HP:0011508	Macular hole	0	GUCY2D CL E G H	3000	4689	ORPHA:75377	Central areolar choroidal dystrophy		124
HP:0011508	HP:0011508	Macular hole	0	HLA-A CL E G H	3105	4931	ORPHA:179	Birdshot chorioretinopathy	HP:0040282 - Frequent	4
HP:0011508	HP:0011508	Macular hole	0	PRPH2 CL E G H	5961	9942	ORPHA:75377	Central areolar choroidal dystrophy		159
HP:0011508	HP:0031152	Full-thickness macular hole	1	GUCA1A CL E G H	2978	4678	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040281 - Very frequent	24
HP:0011508	HP:0031152	Full-thickness macular hole	1	GUCY2D CL E G H	3000	4689	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040281 - Very frequent	124
HP:0011508	HP:0031152	Full-thickness macular hole	1	PRPH2 CL E G H	5961	9942	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040281 - Very frequent	159

Genes (4) :GUCA1A GUCY2D HLA-A PRPH2

Diseases (2) :ORPHA:75377 ORPHA:179

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