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)

Grandparent Node:
Vasculitis (HP:0002633)

Parent Node:
Vasculitis in the skin (HP:0200029)

..Starting node
..Punctate vasculitis skin lesions (HP:0200030)

Term ID:

200030

Name:

Punctate vasculitis skin lesions

Synonym:

Definition:

Comments:

Reference:

HP:0200030

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0200030	HP:0200030	Punctate vasculitis skin lesions	0	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	HP:0040284 - Very rare	56
HP:0200030	HP:0200030	Punctate vasculitis skin lesions	0	TREX1 CL E G H	11277	12269	OMIM:192315	Vasculopathy, retinal, with cerebral leukodystrophy	.	56

Genes (1) :TREX1

Diseases (2) :ORPHA:247691 OMIM:192315

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