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:
Chorioretinal degeneration (HP:0200065)

Parent Node:
Chorioretinal atrophy (HP:0000533)

..Starting node
..Choriocapillaris atrophy (HP:0030491)

Term ID:

30491

Name:

Choriocapillaris atrophy

Synonym:

Definition:

Atrophy of the capillary lamina of choroid.

Comments:

Reference:

HP:0030491

Genes and Diseases:

Child Nodes:

Sister Nodes:

Paravenous chorioretinal atrophy (HP:0007903)

Peripapillary chorioretinal atrophy (HP:0007950)

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:0030491	HP:0030491	Choriocapillaris atrophy	0	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2	.	178
HP:0030491	HP:0030491	Choriocapillaris atrophy	0	CRB1 CL E G H	23418	2343	OMIM:613835	Leber congenital amaurosis 8	.	156
HP:0030491	HP:0030491	Choriocapillaris atrophy	0	CYP4V2 CL E G H	285440	23198	ORPHA:41751	Bietti crystalline dystrophy	HP:0040282 - Frequent	126
HP:0030491	HP:0030491	Choriocapillaris atrophy	0	GUCA1A CL E G H	2978	4678	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040283 - Occasional	24
HP:0030491	HP:0030491	Choriocapillaris atrophy	0	GUCY2D CL E G H	3000	4689	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040283 - Occasional	124
HP:0030491	HP:0030491	Choriocapillaris atrophy	0	GUCY2D CL E G H	3000	4689	OMIM:215500	Choroidal dystrophy, central areolar 1	.	124
HP:0030491	HP:0030491	Choriocapillaris atrophy	0	PRPH2 CL E G H	5961	9942	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040283 - Occasional	159
HP:0030491	HP:0030491	Choriocapillaris atrophy	0	TIMP3 CL E G H	7078	11822	ORPHA:59181	Sorsby pseudoinflammatory fundus dystrophy	HP:0040282 - Frequent	95

Genes (7) :ACVRL1 CRB1 CYP4V2 GUCA1A GUCY2D PRPH2 TIMP3

Diseases (6) :OMIM:600376 OMIM:613835 ORPHA:41751 ORPHA:75377 OMIM:215500 ORPHA:59181

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