Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the musculature (HP:0003011)help
Parent Node:
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Abnormal skeletal muscle morphology (HP:0011805)help
..Starting node
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Firm muscles (HP:0003725)help
Term ID: 3725
Name: Firm muscles
Synonym:
Definition:
Comments:
Reference: HP:0003725
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal muscle fiber morphology (HP:0004303) help
..expandAbnormality of muscle size (HP:0030236) help
..expandCalcinosis (HP:0003761) help
..expandDecreased muscle mass (HP:0003199) help
..expandFatty replacement of skeletal muscle (HP:0012548) help
..expandFlexion contracture (HP:0001371) help
..expandGeneralized muscular appearance from birth (HP:0003716) help
..expandIntramuscular hematoma (HP:0012233) help
..expandLevator palpebrae superioris atrophy (HP:0012241) help
..expandMuscular dystrophy (HP:0003560) help
..expandMuscular edema (HP:0100748) help
..expandMyopathy (HP:0003198) help
..expandMyositis (HP:0100614) help
..expandRhabdomyolysis (HP:0003201) help
..expandSkeletal muscle fibrosis (HP:0030951) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0003725HP:0003725Firm muscles0GAA CL E G H2548232300Glycogen storage disease, type II232300C0017921OMIM124424065606800
HP:0003725HP:0003725Firm muscles0PIEZO2 CL E G H63895108145Oculomelic amyoplasia108145C1862472OMIM197826270613629
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (2) :GAA PIEZO2

Diseases (2) :232300 108145
 

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