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
..Diffuse telangiectasia (HP:0007489)

Term ID:

7489

Name:

Diffuse telangiectasia

Synonym:

Diffuse telangiectases; Telangiectases, random body distribution

Definition:

Telangiectases (small dilated blood vessels) with a diffuse localization.

Comments:

Reference:

HP:0007489

Genes and Diseases:

Child Nodes:

Sister Nodes:

Mucosal telangiectasiae (HP:0100579)

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:0007489	HP:0007489	Diffuse telangiectasia	0	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency	.	66

Genes (1) :PEPD

Diseases (1) :OMIM:170100

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