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:
Vascular skin abnormality (HP:0011276)

Parent Node:
Telangiectasia (HP:0001009)

..Starting node
..Mucosal telangiectasiae (HP:0100579)

Term ID:

100579

Name:

Mucosal telangiectasiae

Synonym:

Definition:

Telangiectasia of the mucosa, the mucous membranes which are involved in absorption and secretion that line cavities that are exposed to the external environment and internal organs.

Comments:

Reference:

HP:0100579

Genes and Diseases:

Child Nodes:

........

Oral cavity telangiectasia (HP:0000228)

................... HP:0000214 Lip telangiectasia
................... HP:0000227 Tongue telangiectasia
................... HP:0002707 Palate telangiectasia
................... HP:0007428 Telangiectasia of the oral mucosa

........

Nasal mucosa telangiectasia (HP:0000434)

........

Conjunctival telangiectasia (HP:0000524)

........

Gastrointestinal telangiectasia (HP:0002604)

Sister Nodes:

Diffuse telangiectasia (HP:0007489)

Nail bed telangiectasia (HP:0001232)

Retinal telangiectasia (HP:0007763)

Telangiectasia macularis eruptiva perstans (HP:0007583)

Telangiectasia of the skin (HP:0100585)

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:0100579	HP:0100579	Mucosal telangiectasiae	0	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040281 - Very frequent	178
HP:0100579	HP:0100579	Mucosal telangiectasiae	0	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2		178
HP:0100579	HP:0100579	Mucosal telangiectasiae	0	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	54
HP:0100579	HP:0100579	Mucosal telangiectasiae	0	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA		3267
HP:0100579	HP:0100579	Mucosal telangiectasiae	0	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia	HP:0040281 - Very frequent	3267
HP:0100579	HP:0100579	Mucosal telangiectasiae	0	CAV1 CL E G H	857	1527	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040282 - Frequent	11
HP:0100579	HP:0100579	Mucosal telangiectasiae	0	CCN2 CL E G H	1490	2500	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040282 - Frequent
HP:0100579	HP:0100579	Mucosal telangiectasiae	0	CCR6 CL E G H	1235	1607	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040282 - Frequent
HP:0100579	HP:0100579	Mucosal telangiectasiae	0	CTSA CL E G H	5476	9251	OMIM:256540	Galactosialidosis		51
HP:0100579	HP:0100579	Mucosal telangiectasiae	0	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum		30
HP:0100579	HP:0100579	Mucosal telangiectasiae	0	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040281 - Very frequent	186
HP:0100579	HP:0100579	Mucosal telangiectasiae	0	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1		186
HP:0100579	HP:0100579	Mucosal telangiectasiae	0	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum		106
HP:0100579	HP:0100579	Mucosal telangiectasiae	0	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum		54
HP:0100579	HP:0100579	Mucosal telangiectasiae	0	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum		158
HP:0100579	HP:0100579	Mucosal telangiectasiae	0	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum		83
HP:0100579	HP:0100579	Mucosal telangiectasiae	0	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040281 - Very frequent	8
HP:0100579	HP:0100579	Mucosal telangiectasiae	0	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040281 - Very frequent	291
HP:0100579	HP:0100579	Mucosal telangiectasiae	0	GNAQ CL E G H	2776	4390	ORPHA:3205	Sturge-Weber syndrome		7
HP:0100579	HP:0100579	Mucosal telangiectasiae	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040282 - Frequent	2
HP:0100579	HP:0100579	Mucosal telangiectasiae	0	IRF5 CL E G H	3663	6120	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040282 - Frequent	4
HP:0100579	HP:0100579	Mucosal telangiectasiae	0	KIAA0319L CL E G H	79932	30071	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040282 - Frequent
HP:0100579	HP:0100579	Mucosal telangiectasiae	0	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	1
HP:0100579	HP:0100579	Mucosal telangiectasiae	0	LBR CL E G H	3930	6518	ORPHA:779	Reynolds syndrome	HP:0040282 - Frequent	70
HP:0100579	HP:0100579	Mucosal telangiectasiae	0	LBR CL E G H	3930	6518	OMIM:613471	Reynolds syndrome		70
HP:0100579	HP:0100579	Mucosal telangiectasiae	0	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96		9
HP:0100579	HP:0100579	Mucosal telangiectasiae	0	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1		21
HP:0100579	HP:0100579	Mucosal telangiectasiae	0	NAGA CL E G H	4668	7631	ORPHA:79280	Alpha-N-acetylgalactosaminidase deficiency type 2		47
HP:0100579	HP:0100579	Mucosal telangiectasiae	0	NAGA CL E G H	4668	7631	OMIM:609242	Kanzaki disease		47
HP:0100579	HP:0100579	Mucosal telangiectasiae	0	PCNA CL E G H	5111	8729	OMIM:615919	Ataxia-Telangiectasia-Like disorder 2		1
HP:0100579	HP:0100579	Mucosal telangiectasiae	0	PEX6 CL E G H	5190	8859	ORPHA:95433	Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome		98
HP:0100579	HP:0100579	Mucosal telangiectasiae	0	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	162
HP:0100579	HP:0100579	Mucosal telangiectasiae	0	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	948
HP:0100579	HP:0100579	Mucosal telangiectasiae	0	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome		7
HP:0100579	HP:0100579	Mucosal telangiectasiae	0	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	237
HP:0100579	HP:0100579	Mucosal telangiectasiae	0	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	147
HP:0100579	HP:0100579	Mucosal telangiectasiae	0	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	129
HP:0100579	HP:0100579	Mucosal telangiectasiae	0	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	60
HP:0100579	HP:0100579	Mucosal telangiectasiae	0	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1		162
HP:0100579	HP:0100579	Mucosal telangiectasiae	0	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040281 - Very frequent	504
HP:0100579	HP:0100579	Mucosal telangiectasiae	0	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	1
HP:0100579	HP:0100579	Mucosal telangiectasiae	0	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum		34
HP:0100579	HP:0100579	Mucosal telangiectasiae	0	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum		86
HP:0100579	HP:0033370	Bronchial telangiectasia	1	CL E G H
HP:0100579	HP:0000524	Conjunctival telangiectasia	1	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	178
HP:0100579	HP:0000228	Oral cavity telangiectasia	1	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2		178
HP:0100579	HP:0002604	Gastrointestinal telangiectasia	1	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2	.	178
HP:0100579	HP:0000524	Conjunctival telangiectasia	1	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2	.	178
HP:0100579	HP:0000434	Nasal mucosa telangiectasia	1	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2	.	178
HP:0100579	HP:0000524	Conjunctival telangiectasia	1	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA	.	3267
HP:0100579	HP:0000524	Conjunctival telangiectasia	1	CTSA CL E G H	5476	9251	OMIM:256540	Galactosialidosis	.	51
HP:0100579	HP:0000524	Conjunctival telangiectasia	1	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	30
HP:0100579	HP:0000524	Conjunctival telangiectasia	1	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	186
HP:0100579	HP:0002604	Gastrointestinal telangiectasia	1	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1	.	186
HP:0100579	HP:0000228	Oral cavity telangiectasia	1	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1		186
HP:0100579	HP:0000524	Conjunctival telangiectasia	1	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1	.	186
HP:0100579	HP:0000434	Nasal mucosa telangiectasia	1	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1	.	186
HP:0100579	HP:0000524	Conjunctival telangiectasia	1	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	106
HP:0100579	HP:0000524	Conjunctival telangiectasia	1	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	54
HP:0100579	HP:0000524	Conjunctival telangiectasia	1	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	158
HP:0100579	HP:0000524	Conjunctival telangiectasia	1	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	83
HP:0100579	HP:0000524	Conjunctival telangiectasia	1	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	8
HP:0100579	HP:0000524	Conjunctival telangiectasia	1	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040281 - Very frequent	291
HP:0100579	HP:0000524	Conjunctival telangiectasia	1	GNAQ CL E G H	2776	4390	ORPHA:3205	Sturge-Weber syndrome	HP:0040283 - Occasional	7
HP:0100579	HP:0000228	Oral cavity telangiectasia	1	LBR CL E G H	3930	6518	OMIM:613471	Reynolds syndrome		70
HP:0100579	HP:0000524	Conjunctival telangiectasia	1	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96		9
HP:0100579	HP:0000524	Conjunctival telangiectasia	1	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1	.	21
HP:0100579	HP:0000228	Oral cavity telangiectasia	1	NAGA CL E G H	4668	7631	ORPHA:79280	Alpha-N-acetylgalactosaminidase deficiency type 2		47
HP:0100579	HP:0000228	Oral cavity telangiectasia	1	NAGA CL E G H	4668	7631	OMIM:609242	Kanzaki disease		47
HP:0100579	HP:0000524	Conjunctival telangiectasia	1	PCNA CL E G H	5111	8729	OMIM:615919	Ataxia-Telangiectasia-Like disorder 2	.	1
HP:0100579	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:0100579	HP:0000524	Conjunctival telangiectasia	1	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome	HP:0040283 - Occasional	7
HP:0100579	HP:0000524	Conjunctival telangiectasia	1	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1	HP:0040283 - Occasional	162
HP:0100579	HP:0000524	Conjunctival telangiectasia	1	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	504
HP:0100579	HP:0000524	Conjunctival telangiectasia	1	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	34
HP:0100579	HP:0000524	Conjunctival telangiectasia	1	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	86
HP:0100579	HP:0000214	Lip telangiectasia	2	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2	.	178
HP:0100579	HP:0002707	Palate telangiectasia	2	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2	.	178
HP:0100579	HP:0000227	Tongue telangiectasia	2	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2	.	178
HP:0100579	HP:0000214	Lip telangiectasia	2	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1	.	186
HP:0100579	HP:0002707	Palate telangiectasia	2	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1	.	186
HP:0100579	HP:0000227	Tongue telangiectasia	2	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1	.	186
HP:0100579	HP:0000214	Lip telangiectasia	2	LBR CL E G H	3930	6518	OMIM:613471	Reynolds syndrome	.	70
HP:0100579	HP:0000214	Lip telangiectasia	2	NAGA CL E G H	4668	7631	ORPHA:79280	Alpha-N-acetylgalactosaminidase deficiency type 2	HP:0040281 - Very frequent	47
HP:0100579	HP:0007428	Telangiectasia of the oral mucosa	2	NAGA CL E G H	4668	7631	ORPHA:79280	Alpha-N-acetylgalactosaminidase deficiency type 2	HP:0040281 - Very frequent	47
HP:0100579	HP:0000214	Lip telangiectasia	2	NAGA CL E G H	4668	7631	OMIM:609242	Kanzaki disease	.	47
HP:0100579	HP:0007428	Telangiectasia of the oral mucosa	2	NAGA CL E G H	4668	7631	OMIM:609242	Kanzaki disease	.	47

Genes (38) :ACVRL1 AKT1 ATM CAV1 CCN2 CCR6 CTSA DDB2 ENG ERCC2 ERCC3 ERCC4 ERCC5 GDF2 GLA GNAQ HLA-DRB1 IRF5 KIAA0319L KLLN LBR LIG1 MASP1 NAGA PCNA PEX6 PIK3CA PTEN RNF168 SDHB SDHC SDHD SEC23B SETX SMAD4 USF3 XPA XPC

Diseases (21) :ORPHA:774 OMIM:600376 ORPHA:201 OMIM:208900 ORPHA:100 ORPHA:220402 OMIM:256540 ORPHA:910 OMIM:187300 ORPHA:324 ORPHA:3205 ORPHA:779 OMIM:613471 OMIM:619774 OMIM:257920 ORPHA:79280 OMIM:609242 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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