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:
Rhabdomyolysis (HP:0003201)

..Starting node
..Acute rhabdomyolysis (HP:0008942)

Term ID:

8942

Name:

Acute rhabdomyolysis

Synonym:

Rhabdomyolysis, acute

Definition:

An acute form of rhabdomyolysis.

Comments:

Reference:

HP:0008942

Genes and Diseases:

Child Nodes:

Sister Nodes:

Alcohol-induced rhabdomyolysis (HP:0011440)

Anesthetic-induced rhabdomylosis (HP:0011439)

Exercise-induced rhabdomyolysis (HP:0009045)

Viral infection-induced rhabdomyolysis (HP:0003558)

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:0008942	HP:0008942	Acute rhabdomyolysis	0	CACNA1S CL E G H	779	1397	ORPHA:423	Malignant hyperthermia of anesthesia	HP:0040283 - Occasional	247
HP:0008942	HP:0008942	Acute rhabdomyolysis	0	CTDP1 CL E G H	9150	2498	OMIM:604168	Congenital cataracts, facial dysmorphism, and neuropathy	.	17
HP:0008942	HP:0008942	Acute rhabdomyolysis	0	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome	HP:0040282 - Frequent	17
HP:0008942	HP:0008942	Acute rhabdomyolysis	0	LPIN1 CL E G H	23175	13345	OMIM:268200	Rhabdomyolysis, acute recurrent	.	95
HP:0008942	HP:0008942	Acute rhabdomyolysis	0	RYR1 CL E G H	6261	10483	ORPHA:423	Malignant hyperthermia of anesthesia	HP:0040283 - Occasional	1200
HP:0008942	HP:0008942	Acute rhabdomyolysis	0	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration		12
HP:0008942	HP:0008942	Acute rhabdomyolysis	0	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	HP:0040282 - Frequent	12

Genes (5) :CACNA1S CTDP1 LPIN1 RYR1 TANGO2

Diseases (6) :ORPHA:423 OMIM:604168 ORPHA:48431 OMIM:268200 OMIM:616878 ORPHA:480864

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