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:
Telangiectasia (HP:0001009)

Parent Node:
Telangiectasia of the skin (HP:0100585)

..Starting node
..Facial telangiectasia (HP:0007380)

Term ID:

7380

Name:

Facial telangiectasia

Synonym:

Facial telangiectatic vessels; Telangiectasia, facial

Definition:

Telangiectases (small dilated blood vessels) located near the surface of the skin of the face.

Comments:

Reference:

HP:0007380

Genes and Diseases:

Child Nodes:

........

Facial telangiectasia in butterfly midface distribution (HP:0005598)

........

Telangiectases of the cheeks (HP:0007421)

Sister Nodes:

Fingerpad telangiectases (HP:0006107)

obsolete Telangiectases in sun-exposed and nonexposed skin (HP:0007561)

Palmar telangiectasia (HP:0100869)

Periungual teleangiectasia (HP:0025555)

Plantar telangiectasia (HP:0100870)

Spider hemangioma (HP:0012522)

Telangiectases producing 'marbled' skin (HP:0007586)

Telangiectasia of extensor surfaces (HP:0007621)

Telangiectasia of the ear (HP:0009893)

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:0007380	HP:0007380	Facial telangiectasia	0	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2		178
HP:0007380	HP:0007380	Facial telangiectasia	0	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0007380	HP:0007380	Facial telangiectasia	0	ARX CL E G H	170302	18060	ORPHA:94083	Partington syndrome	HP:0040283 - Occasional	166
HP:0007380	HP:0007380	Facial telangiectasia	0	ATR CL E G H	545	882	OMIM:614564	Cutaneous telangiectasia and cancer syndrome, familial		168
HP:0007380	HP:0007380	Facial telangiectasia	0	ATRX CL E G H	546	886	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040284 - Very rare	169
HP:0007380	HP:0007380	Facial telangiectasia	0	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome		314
HP:0007380	HP:0007380	Facial telangiectasia	0	DAXX CL E G H	1616	2681	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040284 - Very rare
HP:0007380	HP:0007380	Facial telangiectasia	0	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II		240
HP:0007380	HP:0007380	Facial telangiectasia	0	POLE CL E G H	5426	9177	OMIM:615139	Facial dysmorphism, immunodeficiency, livedo, and short stature		1129
HP:0007380	HP:0007380	Facial telangiectasia	0	SDHD CL E G H	6392	10683	ORPHA:100093	Carcinoid syndrome	HP:0040283 - Occasional	129
HP:0007380	HP:0007380	Facial telangiectasia	0	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome	HP:0040283 - Occasional	68
HP:0007380	HP:0007380	Facial telangiectasia	0	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome		68
HP:0007380	HP:0007380	Facial telangiectasia	0	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome		178
HP:0007380	HP:0007380	Facial telangiectasia	0	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome		7
HP:0007380	HP:0007380	Facial telangiectasia	0	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E		26
HP:0007380	HP:0007380	Facial telangiectasia	0	WNT10A CL E G H	80326	13829	ORPHA:50944	Schöpf-Schulz-Passarge syndrome	HP:0040281 - Very frequent	71
HP:0007380	HP:0005598	Facial telangiectasia in butterfly midface distribution	1	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome	.	314
HP:0007380	HP:0007421	Telangiectases of the cheeks	1	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040283 - Occasional	240
HP:0007380	HP:0007421	Telangiectases of the cheeks	1	POLE CL E G H	5426	9177	OMIM:615139	Facial dysmorphism, immunodeficiency, livedo, and short stature	.	1129
HP:0007380	HP:0007421	Telangiectases of the cheeks	1	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome	.	178
HP:0007380	HP:0005598	Facial telangiectasia in butterfly midface distribution	1	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome	.	7

Genes (15) :ACVRL1 ARPC4 ARX ATR ATRX BLM DAXX GNPTAB POLE SDHD SLC29A3 SLC2A10 SOX18 VPS53 WNT10A

Diseases (15) :OMIM:600376 OMIM:620141 ORPHA:94083 OMIM:614564 ORPHA:100075 OMIM:210900 ORPHA:576 OMIM:615139 ORPHA:100093 ORPHA:168569 OMIM:602782 OMIM:208050 OMIM:137940 OMIM:615851 ORPHA:50944

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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