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

..Starting node
..Nailfold capillary tortuosity (HP:0033250)

Term ID:

33250

Name:

Nailfold capillary tortuosity

Synonym:

Definition:

An increased number of turns of the blood vessels of the nailfold with a charactereistic winded or twisted appearance of the blood vessels.

Comments:

Reference:

HP:0033250

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0033250	HP:0033250	Nailfold capillary tortuosity	0	ANGPT1 CL E G H	284	484	OMIM:619361	ANGIOEDEMA, HEREDITARY, 5; HAE5	5
HP:0033250	HP:0033250	Nailfold capillary tortuosity	0	MYOF CL E G H	26509	3656	OMIM:619366	ANGIOEDEMA, HEREDITARY, 7; HAE7
HP:0033250	HP:0033250	Nailfold capillary tortuosity	0	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset

Genes (3) :ANGPT1 MYOF STING1

Diseases (3) :OMIM:619361 OMIM:619366 OMIM:615934

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