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 vascular morphology (HP:0008046)

Grandparent Node:
Telangiectasia (HP:0001009)

Parent Node:
Abnormality morphology of the macular vasculature (HP:0030495)

Parent Node:
Retinal telangiectasia (HP:0007763)

..Starting node
..Macular telangiectasia (HP:0030503)

Term ID:

30503

Name:

Macular telangiectasia

Synonym:

Juxtafoveal telangiectasia; Parafoveal telangiectasia

Definition:

Comments:

Reference:

HP:0030503

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:0030503	HP:0030503	Macular telangiectasia	0	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	88
HP:0030503	HP:0030503	Macular telangiectasia	0	FZD4 CL E G H	8322	4042	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	109
HP:0030503	HP:0030503	Macular telangiectasia	0	LRP5 CL E G H	4041	6697	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	125
HP:0030503	HP:0030503	Macular telangiectasia	0	NDP CL E G H	4693	7678	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	39
HP:0030503	HP:0030503	Macular telangiectasia	0	TSPAN12 CL E G H	23554	21641	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	39
HP:0030503	HP:0030503	Macular telangiectasia	0	ZNF408 CL E G H	79797	20041	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	14

Genes (6) :CTNNB1 FZD4 LRP5 NDP TSPAN12 ZNF408

Diseases (1) :ORPHA:891

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