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
..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	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008978	HP:0008978	Necrotizing myopathy	0	CACNA1S CL E G H	779	1397	ORPHA:423	Malignant hyperthermia of anesthesia	HP:0040283 - Occasional	247
HP:0008978	HP:0008978	Necrotizing myopathy	0	RYR1 CL E G H	6261	10483	ORPHA:423	Malignant hyperthermia of anesthesia	HP:0040283 - Occasional	1200
HP:0008978	HP:0008978	Necrotizing myopathy	0	TTN CL E G H	7273	12403	ORPHA:178464	Hereditary myopathy with early respiratory failure	HP:0040282 - Frequent	7128
HP:0008978	HP:0008978	Necrotizing myopathy	0	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation	HP:0040282 - Frequent	63

Genes (4) :CACNA1S RYR1 TTN VCP

Diseases (3) :ORPHA:423 ORPHA:178464 ORPHA:329478

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