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:
Myotonia (HP:0002486)

Parent Node:
Percussion myotonia (HP:0010548)

..Starting node
..Muscle mounding (HP:0003719)

Term ID:

3719

Name:

Muscle mounding

Synonym:

Definition:

Comments:

Reference:

HP:0003719

Genes and Diseases:

Child Nodes:

Sister Nodes:

Percussion-induced rapid rolling muscle contractions (HP:0003760)

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:0003719	HP:0003719	Muscle mounding	0	CAV3 CL E G H	859	1529	OMIM:606072	Rippling muscle disease	.	148
HP:0003719	HP:0003719	Muscle mounding	0	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4	.	48

Genes (2) :CAV3 CAVIN1

Diseases (2) :OMIM:606072 OMIM:613327

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