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:
Abnormal gastrointestinal vascular morphology (HP:0004296)

Parent Node:
Mucosal telangiectasiae (HP:0100579)

..Starting node
..Gastrointestinal telangiectasia (HP:0002604)

Term ID:

2604

Name:

Gastrointestinal telangiectasia

Synonym:

GI telangiectasia; Small, enlarged blood vessels near skin

Definition:

Telangiectasia affecting the gastrointestinal tract.

Comments:

Reference:

HP:0002604

Genes and Diseases:

Child Nodes:

Sister Nodes:

Conjunctival telangiectasia (HP:0000524)

Nasal mucosa telangiectasia (HP:0000434)

Oral cavity telangiectasia (HP:0000228)

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:0002604	HP:0002604	Gastrointestinal telangiectasia	0	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2	.	178
HP:0002604	HP:0002604	Gastrointestinal telangiectasia	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.