Human Phenotype Ontology

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:
Telangiectasia of the skin (HP:0100585)

Parent Node:
Facial telangiectasia (HP:0007380)

..Starting node
..Telangiectases of the cheeks (HP:0007421)

Term ID:

7421

Name:

Telangiectases of the cheeks

Synonym:

Telangiectasia on the cheeks

Definition:

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

Comments:

Reference:

HP:0007421

Genes and Diseases:

Child Nodes:

Sister Nodes:

Facial telangiectasia in butterfly midface distribution (HP:0005598)

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:0007421	HP:0007421	Telangiectases of the cheeks	0	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040283 - Occasional	240
HP:0007421	HP:0007421	Telangiectases of the cheeks	0	POLE CL E G H	5426	9177	OMIM:615139	Facial dysmorphism, immunodeficiency, livedo, and short stature	.	1129
HP:0007421	HP:0007421	Telangiectases of the cheeks	0	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome	.	178

Genes (3) :GNPTAB POLE SLC2A10

Diseases (3) :ORPHA:576 OMIM:615139 OMIM:208050

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