Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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:
Abnormality of skin physiology (HP:0011122)

Grandparent Node:
Increased inflammatory response (HP:0012649)

Parent Node:
Inflammatory abnormality of the skin (HP:0011123)

..Starting node
..Erythema nodosum (HP:0012219)

Term ID:

12219

Name:

Erythema nodosum

Synonym:

Definition:

An erythematous eruption commonly associated with drug reactions or infection and characterized by inflammatory nodules that are usually tender, multiple, and bilateral.

Comments:

Reference:

HP:0012219

Genes and Diseases:

Child Nodes:

Sister Nodes:

Acne (HP:0001061)

Atopic dermatitis (HP:0001047)

Crusting erythematous dermatitis (HP:0007473)

Cutaneous abscess (HP:0031292)

Deep dermal perivascular inflammatory infiltrate (HP:0031191)

Eczema (HP:0000964)

Erysipelas (HP:0001055)

Erythroderma (HP:0001019)

Folliculitis (HP:0025084)

Neutrophilic infiltration of the skin (HP:0031234)

Perifolliculitis (HP:0012322)

Psoriasiform dermatitis (HP:0003765)

Pustule (HP:0200039)

Recurrent skin infections (HP:0001581)

Skin rash (HP:0000988)

Superficial dermal perivascular inflammatory infiltrate (HP:0031190)

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:0012219	HP:0012219	Erythema nodosum	0	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0012219	HP:0012219	Erythema nodosum	0	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040282 - Frequent	1
HP:0012219	HP:0012219	Erythema nodosum	0	BTNL2 CL E G H	56244	1142	OMIM:612387	Sarcoidosis, susceptibility to, 2	.	1
HP:0012219	HP:0012219	Erythema nodosum	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040282 - Frequent	2
HP:0012219	HP:0012219	Erythema nodosum	0	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0012219	HP:0012219	Erythema nodosum	0	NLRP12 CL E G H	91662	22938	OMIM:611762	Familial cold autoinflammatory syndrome 2		99
HP:0012219	HP:0012219	Erythema nodosum	0	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome	HP:0040282 - Frequent	187
HP:0012219	HP:0012219	Erythema nodosum	0	NOD2 CL E G H	64127	5331	OMIM:186580	Blau syndrome		187
HP:0012219	HP:0012219	Erythema nodosum	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0012219	HP:0012219	Erythema nodosum	0	XIAP CL E G H	331	592	OMIM:300635	Lymphoproliferative syndrome, X-linked, 2	.	81

Genes (8) :ADA2 BTNL2 HLA-DRB1 LRBA NLRP12 NOD2 PSMB8 XIAP

Diseases (9) :OMIM:615688 ORPHA:797 OMIM:612387 OMIM:614700 OMIM:611762 ORPHA:90340 OMIM:186580 OMIM:256040 OMIM:300635

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen