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:
Abnormal skeletal muscle morphology (HP:0011805)

Parent Node:
Myopathy (HP:0003198)

..Starting node
..Inflammatory myopathy (HP:0009071)

Term ID:

9071

Name:

Inflammatory myopathy

Synonym:

Definition:

Chronic muscle inflammation accompanied by muscle weakness.

Comments:

Reference:

HP:0009071

Genes and Diseases:

Child Nodes:

Sister Nodes:

EMG: myopathic abnormalities (HP:0003458)

Minicore myopathy (HP:0003789)

Myofibrillar myopathy (HP:0003715)

Necrotizing myopathy (HP:0008978)

Skeletal myopathy (HP:0003756)

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:0009071	HP:0009071	Inflammatory myopathy	0	CAV3 CL E G H	859	1529	OMIM:123320	Creatine phosphokinase, elevated serum		148
HP:0009071	HP:0009071	Inflammatory myopathy	0	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy	HP:0040282 - Frequent	35

Genes (2) :CAV3 UBA1

Diseases (2) :OMIM:123320 ORPHA:1145

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