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:
Abnormality of the vasculature (HP:0002597)

Grandparent Node:
obsolete Abnormal globe morphology (HP:0012374)

Parent Node:
Abnormal conjunctiva morphology (HP:0000502)

Parent Node:
Abnormality of the vasculature of the eye (HP:0008047)

..Starting node
..Abnormal morphology of the conjunctival vasculature (HP:0008054)

Term ID:

8054

Name:

Abnormal morphology of the conjunctival vasculature

Synonym:

Abnormal morphology of the conjunctiva vasculature; Abnormal vasculature of the conjunctiva morphology; Abnormality of the vasculature of the conjunctiva

Definition:

Any abnormality of the blood vessels of the conjunctiva.

Comments:

Reference:

HP:0008054

Genes and Diseases:

Child Nodes:

........

Tortuosity of conjunctival vessels (HP:0000503)

........

Conjunctival telangiectasia (HP:0000524)

........

Saccular conjunctival dilatations (HP:0007721)

Sister Nodes:

Abnormal iris vasculature (HP:0007905)

Abnormal retinal vascular morphology (HP:0008046)

Red eye (HP:0025337)

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:0008054	HP:0008054	Abnormal morphology of the conjunctival vasculature	0	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia		178
HP:0008054	HP:0008054	Abnormal morphology of the conjunctival vasculature	0	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2		178
HP:0008054	HP:0008054	Abnormal morphology of the conjunctival vasculature	0	ANO10 CL E G H	55129	25519	ORPHA:284289	Adult-onset autosomal recessive cerebellar ataxia		64
HP:0008054	HP:0008054	Abnormal morphology of the conjunctival vasculature	0	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA		3267
HP:0008054	HP:0008054	Abnormal morphology of the conjunctival vasculature	0	CTSA CL E G H	5476	9251	OMIM:256540	Galactosialidosis		51
HP:0008054	HP:0008054	Abnormal morphology of the conjunctival vasculature	0	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum		30
HP:0008054	HP:0008054	Abnormal morphology of the conjunctival vasculature	0	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia		186
HP:0008054	HP:0008054	Abnormal morphology of the conjunctival vasculature	0	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1		186
HP:0008054	HP:0008054	Abnormal morphology of the conjunctival vasculature	0	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum		106
HP:0008054	HP:0008054	Abnormal morphology of the conjunctival vasculature	0	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum		54
HP:0008054	HP:0008054	Abnormal morphology of the conjunctival vasculature	0	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum		158
HP:0008054	HP:0008054	Abnormal morphology of the conjunctival vasculature	0	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum		83
HP:0008054	HP:0008054	Abnormal morphology of the conjunctival vasculature	0	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS		43
HP:0008054	HP:0008054	Abnormal morphology of the conjunctival vasculature	0	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia		8
HP:0008054	HP:0008054	Abnormal morphology of the conjunctival vasculature	0	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease		291
HP:0008054	HP:0008054	Abnormal morphology of the conjunctival vasculature	0	GNAQ CL E G H	2776	4390	ORPHA:3205	Sturge-Weber syndrome		7
HP:0008054	HP:0008054	Abnormal morphology of the conjunctival vasculature	0	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96		9
HP:0008054	HP:0008054	Abnormal morphology of the conjunctival vasculature	0	MANBA CL E G H	4126	6831	OMIM:248510	MANNOSIDOSIS, BETA A, LYSOSOMAL		55
HP:0008054	HP:0008054	Abnormal morphology of the conjunctival vasculature	0	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1		21
HP:0008054	HP:0008054	Abnormal morphology of the conjunctival vasculature	0	PCNA CL E G H	5111	8729	OMIM:615919	Ataxia-Telangiectasia-Like disorder 2		1
HP:0008054	HP:0008054	Abnormal morphology of the conjunctival vasculature	0	PEX6 CL E G H	5190	8859	ORPHA:95433	Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome		98
HP:0008054	HP:0008054	Abnormal morphology of the conjunctival vasculature	0	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome		7
HP:0008054	HP:0008054	Abnormal morphology of the conjunctival vasculature	0	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1		162
HP:0008054	HP:0008054	Abnormal morphology of the conjunctival vasculature	0	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia		504
HP:0008054	HP:0008054	Abnormal morphology of the conjunctival vasculature	0	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum		34
HP:0008054	HP:0008054	Abnormal morphology of the conjunctival vasculature	0	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum		86
HP:0008054	HP:0007721	Saccular conjunctival dilatations	1	CL E G H
HP:0008054	HP:0000524	Conjunctival telangiectasia	1	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	178
HP:0008054	HP:0000524	Conjunctival telangiectasia	1	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2	.	178
HP:0008054	HP:0000503	Tortuosity of conjunctival vessels	1	ANO10 CL E G H	55129	25519	ORPHA:284289	Adult-onset autosomal recessive cerebellar ataxia	HP:0040283 - Occasional	64
HP:0008054	HP:0000524	Conjunctival telangiectasia	1	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA	.	3267
HP:0008054	HP:0000524	Conjunctival telangiectasia	1	CTSA CL E G H	5476	9251	OMIM:256540	Galactosialidosis	.	51
HP:0008054	HP:0000524	Conjunctival telangiectasia	1	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	30
HP:0008054	HP:0000524	Conjunctival telangiectasia	1	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	186
HP:0008054	HP:0000524	Conjunctival telangiectasia	1	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1	.	186
HP:0008054	HP:0000524	Conjunctival telangiectasia	1	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	106
HP:0008054	HP:0000524	Conjunctival telangiectasia	1	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	54
HP:0008054	HP:0000524	Conjunctival telangiectasia	1	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	158
HP:0008054	HP:0000524	Conjunctival telangiectasia	1	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	83
HP:0008054	HP:0000503	Tortuosity of conjunctival vessels	1	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS	.	43
HP:0008054	HP:0000524	Conjunctival telangiectasia	1	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	8
HP:0008054	HP:0000524	Conjunctival telangiectasia	1	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040281 - Very frequent	291
HP:0008054	HP:0000524	Conjunctival telangiectasia	1	GNAQ CL E G H	2776	4390	ORPHA:3205	Sturge-Weber syndrome	HP:0040283 - Occasional	7
HP:0008054	HP:0000524	Conjunctival telangiectasia	1	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96		9
HP:0008054	HP:0000503	Tortuosity of conjunctival vessels	1	MANBA CL E G H	4126	6831	OMIM:248510	MANNOSIDOSIS, BETA A, LYSOSOMAL	.	55
HP:0008054	HP:0000524	Conjunctival telangiectasia	1	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1	.	21
HP:0008054	HP:0000524	Conjunctival telangiectasia	1	PCNA CL E G H	5111	8729	OMIM:615919	Ataxia-Telangiectasia-Like disorder 2	.	1
HP:0008054	HP:0000524	Conjunctival telangiectasia	1	PEX6 CL E G H	5190	8859	ORPHA:95433	Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome	HP:0040282 - Frequent	98
HP:0008054	HP:0000524	Conjunctival telangiectasia	1	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome	HP:0040283 - Occasional	7
HP:0008054	HP:0000524	Conjunctival telangiectasia	1	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1	HP:0040283 - Occasional	162
HP:0008054	HP:0000524	Conjunctival telangiectasia	1	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	504
HP:0008054	HP:0000524	Conjunctival telangiectasia	1	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	34
HP:0008054	HP:0000524	Conjunctival telangiectasia	1	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	86

Genes (24) :ACVRL1 ANO10 ATM CTSA DDB2 ENG ERCC2 ERCC3 ERCC4 ERCC5 FUCA1 GDF2 GLA GNAQ LIG1 MANBA MASP1 PCNA PEX6 RNF168 SETX SMAD4 XPA XPC

Diseases (17) :ORPHA:774 OMIM:600376 ORPHA:284289 OMIM:208900 OMIM:256540 ORPHA:910 OMIM:187300 OMIM:230000 ORPHA:324 ORPHA:3205 OMIM:619774 OMIM:248510 OMIM:257920 OMIM:615919 ORPHA:95433 ORPHA:420741 OMIM:606002

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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