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:
Retinal fold (HP:0008052)

..Starting node
..Falciform retinal fold (HP:0001493)

Term ID:

1493

Name:

Falciform retinal fold

Synonym:

Congenital retinal fold

Definition:

An area of the retina that is buckled so that a sector-shaped sheet of retina lies in front of the normal retina. This feature is of congenital onset.

Comments:

Reference:

HP:0001493

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0001493	HP:0001493	Falciform retinal fold	0	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040282 - Frequent	88
HP:0001493	HP:0001493	Falciform retinal fold	0	FZD4 CL E G H	8322	4042	OMIM:133780	Exudative vitreoretinopathy 1	.	109
HP:0001493	HP:0001493	Falciform retinal fold	0	FZD4 CL E G H	8322	4042	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040282 - Frequent	109
HP:0001493	HP:0001493	Falciform retinal fold	0	LRP5 CL E G H	4041	6697	OMIM:133780	Exudative vitreoretinopathy 1	.	125
HP:0001493	HP:0001493	Falciform retinal fold	0	LRP5 CL E G H	4041	6697	OMIM:601813	Exudative vitreoretinopathy 4	.	125
HP:0001493	HP:0001493	Falciform retinal fold	0	LRP5 CL E G H	4041	6697	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040282 - Frequent	125
HP:0001493	HP:0001493	Falciform retinal fold	0	NDP CL E G H	4693	7678	OMIM:305390	Exudative vitreoretinopathy 2, X-linked		39
HP:0001493	HP:0001493	Falciform retinal fold	0	NDP CL E G H	4693	7678	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040282 - Frequent	39
HP:0001493	HP:0001493	Falciform retinal fold	0	TSPAN12 CL E G H	23554	21641	OMIM:613310	Exudative vitreoretinopathy 5		39
HP:0001493	HP:0001493	Falciform retinal fold	0	TSPAN12 CL E G H	23554	21641	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040282 - Frequent	39
HP:0001493	HP:0001493	Falciform retinal fold	0	ZNF408 CL E G H	79797	20041	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040282 - Frequent	14

Genes (6) :CTNNB1 FZD4 LRP5 NDP TSPAN12 ZNF408

Diseases (5) :ORPHA:891 OMIM:133780 OMIM:601813 OMIM:305390 OMIM:613310

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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