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
..Fingerpad telangiectases (HP:0006107)

Term ID:

6107

Name:

Fingerpad telangiectases

Synonym:

Finger pad telangiectases; Small dilated blood vessels in fingerpads

Definition:

Telangiectasia (small dilated blood vessels) located in the fingerpads at the tips of the fingers.

Comments:

Reference:

HP:0006107

Genes and Diseases:

Child Nodes:

Sister Nodes:

Facial telangiectasia (HP:0007380)

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:0006107	HP:0006107	Fingerpad telangiectases	0	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2	.	178
HP:0006107	HP:0006107	Fingerpad telangiectases	0	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1	.	186

Genes (2) :ACVRL1 ENG

Diseases (2) :OMIM:600376 OMIM:187300

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