Human Phenotype Ontology

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 skeletal muscle morphology (HP:0011805)

Parent Node:
Myopathy (HP:0003198)

..Starting node
..Necrotizing myopathy (HP:0008978)

Term ID:

8978

Name:

Necrotizing myopathy

Synonym:

Definition:

Comments:

Reference:

HP:0008978

Genes and Diseases:

Child Nodes:

Sister Nodes:

EMG: myopathic abnormalities (HP:0003458)

Inflammatory myopathy (HP:0009071)

Minicore myopathy (HP:0003789)

Myofibrillar myopathy (HP:0003715)

Skeletal myopathy (HP:0003756)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0008978	HP:0008978	Necrotizing myopathy	0	TTN CL E G H	7273	178464	ORPHA	1	27503	12403	188840
HP:0008978	HP:0008978	Necrotizing myopathy	0	VCP CL E G H	7415	329478	ORPHA	1	607	12666	601023
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008978	HP:0008978	Necrotizing myopathy	0	CACNA1S CL E G H	779	423	ORPHA	0	1886	1397	114208
HP:0008978	HP:0008978	Necrotizing myopathy	0	RYR1 CL E G H	6261	423	ORPHA	0	6164	10483	180901

Genes (4) :CACNA1S RYR1 TTN VCP

Diseases (3) :423 178464 329478

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.