Human Phenotype Ontology 
Grandparent Node:
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Myotonia (HP:0002486)help
Parent Node:
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Percussion myotonia (HP:0010548)help
..Starting node
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Muscle mounding (HP:0003719)help
Term ID: 3719
Name: Muscle mounding
Synonym:
Definition:
Comments:
Reference: HP:0003719
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandPercussion-induced rapid rolling muscle contractions (HP:0003760) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0003719HP:0003719Muscle mounding0CAV3 CL E G H859606072Rippling muscle disease606072C1853698OMIM13541529601253
HP:0003719HP:0003719Muscle mounding0CAV3 CL E G H859606072Rippling muscle disease606072C1853698OMIM13351529601253
HP:0003719HP:0003719Muscle mounding0CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11099688603198
HP:0003719HP:0003719Muscle mounding0CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11109688603198
HP:0003719HP:0003719Muscle mounding0PRPS1 CL E G H56311187Cerebellar agenesisORPHA13219462311850
HP:0003719HP:0003719Muscle mounding0PRPS1 CL E G H56311187Cerebellar agenesisORPHA13039462311850
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (3) :CAV3 CAVIN1 PRPS1

Diseases (3) :606072 613327 1187
 

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