Human Phenotype Ontology 
Grandparent Node:
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Abnormality of muscle size (HP:0030236)help
Grandparent Node:
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obsolete Abnormality of skeletal muscles (HP:0040290)help
Parent Node:
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Abnormality of the musculature of the lower limbs (HP:0001437)help
Parent Node:
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Skeletal muscle hypertrophy (HP:0003712)help
..Starting node
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Muscle hypertrophy of the lower extremities (HP:0008968)help
Term ID: 8968
Name: Muscle hypertrophy of the lower extremities
Synonym:
Definition: Muscle hypertrophy primarily affecting the legs.
Comments:
Reference: HP:0008968
Genes and Diseases:
 
       Child Nodes:
........expandThigh hypertrophy (HP:0003733) help
........expandCalf muscle hypertrophy (HP:0008981) help

 Sister Nodes: 
..expandFacial muscle hypertrophy (HP:0012892) help
..expandGeneralized muscle hypertrophy (HP:0003720) help
..expandMacroglossia (HP:0000158) help
..expandMarked muscular hypertrophy (HP:0009042) help
..expandNeck muscle hypertrophy (HP:0012893) help
..expandParaspinal muscle hypertrophy (HP:0012894) help
..expandScapular muscle hypertrophy (HP:0012895) help
..expandUpper limb muscle hypertrophy (HP:0040265) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0008968HP:0008968Muscle hypertrophy of the lower extremities0CLCN1 CL E G H1180255700Congenital myotonia, autosomal recessive form255700C0751360OMIM17892019118425
HP:0008968HP:0008968Muscle hypertrophy of the lower extremities0CLCN1 CL E G H1180255700Congenital myotonia, autosomal recessive form255700C0751360OMIM16862019118425
HP:0008968HP:0008968Muscle hypertrophy of the lower extremities0LMNA CL E G H4000280365ORPHA114866636150330
HP:0008968HP:0008968Muscle hypertrophy of the lower extremities0LMNA CL E G H4000280365ORPHA113476636150330
HP:0008968HP:0008968Muscle hypertrophy of the lower extremities0SRY CL E G H67361772ORPHA110911311480000
HP:0008968HP:0008968Muscle hypertrophy of the lower extremities0SRY CL E G H67361772ORPHA19911311480000
HP:0008968HP:0008981Calf muscle hypertrophy1CLCN1 CL E G H1180255700Congenital myotonia, autosomal recessive form255700C0751360OMIM17892019118425
HP:0008968HP:0008981Calf muscle hypertrophy1CLCN1 CL E G H1180255700Congenital myotonia, autosomal recessive form255700C0751360OMIM16862019118425
HP:0008968HP:0003733Thigh hypertrophy1CLCN1 CL E G H1180255700Congenital myotonia, autosomal recessive form255700C0751360OMIM17892019118425
HP:0008968HP:0003733Thigh hypertrophy1CLCN1 CL E G H1180255700Congenital myotonia, autosomal recessive form255700C0751360OMIM16862019118425
HP:0008968HP:0008981Calf muscle hypertrophy1LMNA CL E G H4000280365ORPHA114866636150330
HP:0008968HP:0008981Calf muscle hypertrophy1LMNA CL E G H4000280365ORPHA113476636150330
HP:0008968HP:0003733Thigh hypertrophy1LMNA CL E G H4000280365ORPHA114866636150330
HP:0008968HP:0003733Thigh hypertrophy1LMNA CL E G H4000280365ORPHA113476636150330
HP:0008968HP:0003733Thigh hypertrophy1SRY CL E G H67361772ORPHA110911311480000
HP:0008968HP:0003733Thigh hypertrophy1SRY CL E G H67361772ORPHA19911311480000
HP:0008968HP:0008981Calf muscle hypertrophy1SRY CL E G H67361772ORPHA110911311480000
HP:0008968HP:0008981Calf muscle hypertrophy1SRY CL E G H67361772ORPHA19911311480000
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (44) :ACTA1 ANO5 AR BIN1 CAPN3 CAV3 CHCHD10 CIDEC CLCN1 CRPPA DMD DNM2 DPM3 FKRP FKTN FRG1 HACD1 ITGA7 KCNA1 LAMA2 LIMS2 LMNA LTBP4 MAP3K20 MTMR14 MYF6 MYL2 PLEC PLIN1 PMP22 POMGNT2 POMT1 RYR1 SELENON SGCA SGCB SGCD SGCG SLC25A1 SRY TCAP TPM2 TPM3 TTN

Diseases (39) :255700 280365 1772 2020 206549 611307 613319 313200 169189 267 614321 615048 435651 616052 98896 263494 34515 606612 607155 253800 158900 37612 618138 616827 79474 617760 254361 280356 101081 618135 86812 608099 119 601287 353 618197 601954 178464 611705
 

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