Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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)

..Starting node
..Abnormality morphology of the macular vasculature (HP:0030495)

Term ID:

30495

Name:

Abnormality morphology of the macular vasculature

Synonym:

Abnormality of macular vasculature

Definition:

Any structural anomaly of the blood vessels of the macula.

Comments:

Reference:

HP:0030495

Genes and Diseases:

Child Nodes:

........

Macular microaneurysm/hemorrhage (HP:0030494)

........

Macular exudate (HP:0030496)

........

Macular telangiectasia (HP:0030503)

Sister Nodes:

Abnormal foveal morphology (HP:0000493)

Abnormality of macular pigmentation (HP:0008002)

Aplasia/Hypoplasia of the macula (HP:0008059)

Choroidal neovascularization (HP:0011506)

Macular coloboma (HP:0001116)

Macular degeneration (HP:0000608)

Macular dystrophy (HP:0007754)

Macular hemorrhage (HP:0025574)

Macular hole (HP:0011508)

Macular thickening (HP:0030498)

Vitreomacular adhesion (HP:0031150)

Vitreomacular traction (HP:0031151)

Yellow/white lesions of the macula (HP:0030500)

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:0030495	HP:0030495	Abnormality morphology of the macular vasculature	0	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy		88
HP:0030495	HP:0030495	Abnormality morphology of the macular vasculature	0	FZD4 CL E G H	8322	4042	ORPHA:891	Familial exudative vitreoretinopathy		109
HP:0030495	HP:0030495	Abnormality morphology of the macular vasculature	0	LRP5 CL E G H	4041	6697	ORPHA:891	Familial exudative vitreoretinopathy		125
HP:0030495	HP:0030495	Abnormality morphology of the macular vasculature	0	NDP CL E G H	4693	7678	ORPHA:891	Familial exudative vitreoretinopathy		39
HP:0030495	HP:0030495	Abnormality morphology of the macular vasculature	0	TSPAN12 CL E G H	23554	21641	ORPHA:891	Familial exudative vitreoretinopathy		39
HP:0030495	HP:0030495	Abnormality morphology of the macular vasculature	0	ZNF408 CL E G H	79797	20041	ORPHA:891	Familial exudative vitreoretinopathy		14
HP:0030495	HP:0030494	Macular microaneurysm/hemorrhage	1	CL E G H
HP:0030495	HP:0030496	Macular exudate	1	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	88
HP:0030495	HP:0030503	Macular telangiectasia	1	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	88
HP:0030495	HP:0030496	Macular exudate	1	FZD4 CL E G H	8322	4042	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	109
HP:0030495	HP:0030503	Macular telangiectasia	1	FZD4 CL E G H	8322	4042	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	109
HP:0030495	HP:0030496	Macular exudate	1	LRP5 CL E G H	4041	6697	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	125
HP:0030495	HP:0030503	Macular telangiectasia	1	LRP5 CL E G H	4041	6697	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	125
HP:0030495	HP:0030496	Macular exudate	1	NDP CL E G H	4693	7678	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	39
HP:0030495	HP:0030503	Macular telangiectasia	1	NDP CL E G H	4693	7678	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	39
HP:0030495	HP:0030496	Macular exudate	1	TSPAN12 CL E G H	23554	21641	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	39
HP:0030495	HP:0030503	Macular telangiectasia	1	TSPAN12 CL E G H	23554	21641	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	39
HP:0030495	HP:0030496	Macular exudate	1	ZNF408 CL E G H	79797	20041	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	14
HP:0030495	HP:0030503	Macular telangiectasia	1	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.

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