Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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:
Abnormal vascular morphology (HP:0025015)

Parent Node:
Vascular skin abnormality (HP:0011276)

Parent Node:
Vasculitis (HP:0002633)

..Starting node
..Vasculitis in the skin (HP:0200029)

Term ID:

200029

Name:

Vasculitis in the skin

Synonym:

Cutaneous vasculitis

Definition:

Comments:

Reference:

HP:0200029

Genes and Diseases:

Child Nodes:

........

Punctate vasculitis skin lesions (HP:0200030)

Sister Nodes:

Cerebral vasculitis (HP:0005318)

Inflammatory arteriopathy (HP:0005291)

Large vessel vasculitis (HP:0005310)

Nodular inflammatory vasculitis (HP:0005300)

Small vessel vasculitis (HP:0011944)

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:0200029	HP:0200029	Vasculitis in the skin	0	ARPC1B CL E G H	10095	704	OMIM:617718	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
HP:0200029	HP:0200029	Vasculitis in the skin	0	IL12RB1 CL E G H	3594	5971	ORPHA:319552	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	HP:0040284 - Very rare	46
HP:0200029	HP:0200029	Vasculitis in the skin	0	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23	.	15
HP:0200029	HP:0200029	Vasculitis in the skin	0	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040282 - Frequent	15
HP:0200029	HP:0200029	Vasculitis in the skin	0	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0200029	HP:0200029	Vasculitis in the skin	0	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations		56
HP:0200029	HP:0200029	Vasculitis in the skin	0	TREX1 CL E G H	11277	12269	OMIM:192315	Vasculopathy, retinal, with cerebral leukodystrophy	.	56
HP:0200029	HP:0200030	Punctate vasculitis skin lesions	1	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	HP:0040284 - Very rare	56
HP:0200029	HP:0200030	Punctate vasculitis skin lesions	1	TREX1 CL E G H	11277	12269	OMIM:192315	Vasculopathy, retinal, with cerebral leukodystrophy	.	56

Genes (5) :ARPC1B IL12RB1 PGM3 SYK TREX1

Diseases (7) :OMIM:617718 ORPHA:319552 OMIM:615816 ORPHA:443811 OMIM:619381 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.

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