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:
Recurrent viral infections (HP:0004429)

Parent Node:
Recurrent enteroviral infections (HP:0002743)

..Starting node
..Enteroviral dermatomyositis syndrome (HP:0003729)

Term ID:

3729

Name:

Enteroviral dermatomyositis syndrome

Synonym:

Definition:

Comments:

Reference:

HP:0003729

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:0003729	HP:0003729	Enteroviral dermatomyositis syndrome	0	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked	.	109
HP:0003729	HP:0003729	Enteroviral dermatomyositis syndrome	0	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia	.	109

Genes (1) :BTK

Diseases (2) :OMIM:300755 OMIM:307200

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