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 of the skin (HP:0100585)

Parent Node:
Facial telangiectasia (HP:0007380)

..Starting node
..Facial telangiectasia in butterfly midface distribution (HP:0005598)

Term ID:

5598

Name:

Facial telangiectasia in butterfly midface distribution

Synonym:

Butterfly facial telangiectasia

Definition:

Telangiectases (small dilated blood vessels) located near the surface of the skin in a butterfly midface distribution.

Comments:

Reference:

HP:0005598

Genes and Diseases:

Child Nodes:

Sister Nodes:

Telangiectases of the cheeks (HP:0007421)

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:0005598	HP:0005598	Facial telangiectasia in butterfly midface distribution	0	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome	.	314
HP:0005598	HP:0005598	Facial telangiectasia in butterfly midface distribution	0	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome	.	7

Genes (2) :BLM SOX18

Diseases (2) :OMIM:210900 OMIM:137940

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