Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the musculature of the lower limbs (HP:0001437)help
Grandparent Node:
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Skeletal muscle hypertrophy (HP:0003712)help
Parent Node:
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Abnormality of the calf musculature (HP:0001430)help
Parent Node:
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Muscle hypertrophy of the lower extremities (HP:0008968)help
..Starting node
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Calf muscle hypertrophy (HP:0008981)help
Term ID: 8981
Name: Calf muscle hypertrophy
Synonym: Calf hypertrophy; Increased size of calf muscles; Muscular hypertrophy of the calf muscles
Definition: Muscle hypertrophy affecting the calf muscles.
Comments:
Reference: HP:0008981
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandThigh hypertrophy (HP:0003733) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0008981HP:0008981Calf muscle hypertrophy0ANO5 CL E G H203859611307Limb-girdle muscular dystrophy, type 2L611307C1969785OMIM190027337608662
HP:0008981HP:0008981Calf muscle hypertrophy0ANO5 CL E G H203859611307Limb-girdle muscular dystrophy, type 2L611307C1969785OMIM178627337608662
HP:0008981HP:0008981Calf muscle hypertrophy0ANO5 CL E G H203859613319Miyoshi muscular dystrophy 3613319C2750076OMIM190027337608662
HP:0008981HP:0008981Calf muscle hypertrophy0ANO5 CL E G H203859613319Miyoshi muscular dystrophy 3613319C2750076OMIM178627337608662
HP:0008981HP:0008981Calf muscle hypertrophy0AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1525644313700
HP:0008981HP:0008981Calf muscle hypertrophy0AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1479644313700
HP:0008981HP:0008981Calf muscle hypertrophy0CAPN3 CL E G H825267ORPHA111421480114240
HP:0008981HP:0008981Calf muscle hypertrophy0CAPN3 CL E G H825267ORPHA110471480114240
HP:0008981HP:0008981Calf muscle hypertrophy0CAV3 CL E G H859614321Distal myopathy, Tateyama type614321C3280443OMIM13541529601253
HP:0008981HP:0008981Calf muscle hypertrophy0CAV3 CL E G H859614321Distal myopathy, Tateyama type614321C3280443OMIM13351529601253
HP:0008981HP:0008981Calf muscle hypertrophy0CIDEC CL E G H63924435651ORPHA17624229612120
HP:0008981HP:0008981Calf muscle hypertrophy0CIDEC CL E G H63924435651ORPHA17124229612120
HP:0008981HP:0008981Calf muscle hypertrophy0DMD CL E G H175698896ORPHA163952928300377
HP:0008981HP:0008981Calf muscle hypertrophy0DMD CL E G H175698896ORPHA156012928300377
HP:0008981HP:0008981Calf muscle hypertrophy0DPM3 CL E G H54344263494ORPHA1593007605951
HP:0008981HP:0008981Calf muscle hypertrophy0DPM3 CL E G H54344263494ORPHA1503007605951
HP:0008981HP:0008981Calf muscle hypertrophy0FKRP CL E G H7914734515ORPHA167117997606596
HP:0008981HP:0008981Calf muscle hypertrophy0FKRP CL E G H7914734515ORPHA157217997606596
HP:0008981HP:0008981Calf muscle hypertrophy0FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM167117997606596
HP:0008981HP:0008981Calf muscle hypertrophy0FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM157217997606596
HP:0008981HP:0008981Calf muscle hypertrophy0FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM167117997606596
HP:0008981HP:0008981Calf muscle hypertrophy0FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM157217997606596
HP:0008981HP:0008981Calf muscle hypertrophy0FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM16793622607440
HP:0008981HP:0008981Calf muscle hypertrophy0FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM15993622607440
HP:0008981HP:0008981Calf muscle hypertrophy0FRG1 CL E G H2483158900Facioscapulohumeral muscular dystrophy158900C0238288OMIM11233954601278
HP:0008981HP:0008981Calf muscle hypertrophy0FRG1 CL E G H2483158900Facioscapulohumeral muscular dystrophy158900C0238288OMIM11213954601278
HP:0008981HP:0008981Calf muscle hypertrophy0ISPD CL E G H729920616052Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7616052C4015095OMIM154937276614631
HP:0008981HP:0008981Calf muscle hypertrophy0ISPD CL E G H729920616052Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7616052C4015095OMIM154537276614631
HP:0008981HP:0008981Calf muscle hypertrophy0LAMA2 CL E G H3908618138MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23618138OMIM127396482156225
HP:0008981HP:0008981Calf muscle hypertrophy0LAMA2 CL E G H3908618138MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23618138OMIM123276482156225
HP:0008981HP:0008981Calf muscle hypertrophy0LIMS2 CL E G H55679616827Muscular dystrophy, limb-girdle, type 2W616827C4225192OMIM119616084607908
HP:0008981HP:0008981Calf muscle hypertrophy0LIMS2 CL E G H55679616827Muscular dystrophy, limb-girdle, type 2W616827C4225192OMIM116616084607908
HP:0008981HP:0008981Calf muscle hypertrophy0LMNA CL E G H400079474ORPHA114866636150330
HP:0008981HP:0008981Calf muscle hypertrophy0LMNA CL E G H400079474ORPHA113476636150330
HP:0008981HP:0008981Calf muscle hypertrophy0LTBP4 CL E G H842598896ORPHA14746717604710
HP:0008981HP:0008981Calf muscle hypertrophy0LTBP4 CL E G H842598896ORPHA14056717604710
HP:0008981HP:0008981Calf muscle hypertrophy0MAP3K20 CL E G H51776617760MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION617760C4540345OMIM116217797609479
HP:0008981HP:0008981Calf muscle hypertrophy0MAP3K20 CL E G H51776617760MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION617760C4540345OMIM17617797609479
HP:0008981HP:0008981Calf muscle hypertrophy0PLIN1 CL E G H5346280356ORPHA11029076170290
HP:0008981HP:0008981Calf muscle hypertrophy0PLIN1 CL E G H5346280356ORPHA1949076170290
HP:0008981HP:0008981Calf muscle hypertrophy0POMGNT2 CL E G H84892618135MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 8618135CN253928OMIM132225902614828
HP:0008981HP:0008981Calf muscle hypertrophy0POMGNT2 CL E G H84892618135MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 8618135CN253928OMIM126725902614828
HP:0008981HP:0008981Calf muscle hypertrophy0POMT1 CL E G H1058586812ORPHA16869202607423
HP:0008981HP:0008981Calf muscle hypertrophy0POMT1 CL E G H1058586812ORPHA16099202607423
HP:0008981HP:0008981Calf muscle hypertrophy0SGCA CL E G H6442608099Limb-girdle muscular dystrophy, type 2D608099C2936332OMIM147410805600119
HP:0008981HP:0008981Calf muscle hypertrophy0SGCA CL E G H6442608099Limb-girdle muscular dystrophy, type 2D608099C2936332OMIM142210805600119
HP:0008981HP:0008981Calf muscle hypertrophy0SGCB CL E G H6443119ORPHA137410806600900
HP:0008981HP:0008981Calf muscle hypertrophy0SGCB CL E G H6443119ORPHA132710806600900
HP:0008981HP:0008981Calf muscle hypertrophy0SGCD CL E G H6444601287Limb-girdle muscular dystrophy, type 2F601287C1832525OMIM154610807601411
HP:0008981HP:0008981Calf muscle hypertrophy0SGCD CL E G H6444601287Limb-girdle muscular dystrophy, type 2F601287C1832525OMIM151010807601411
HP:0008981HP:0008981Calf muscle hypertrophy0SGCG CL E G H6445353Kozlowski Warren Fisher syndromeORPHA145210809608896
HP:0008981HP:0008981Calf muscle hypertrophy0SGCG CL E G H6445353Kozlowski Warren Fisher syndromeORPHA140910809608896
HP:0008981HP:0008981Calf muscle hypertrophy0SLC25A1 CL E G H6576618197MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC618197OMIM149810979190315
HP:0008981HP:0008981Calf muscle hypertrophy0SLC25A1 CL E G H6576618197MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC618197OMIM147010979190315
HP:0008981HP:0008981Calf muscle hypertrophy0TCAP CL E G H8557601954Limb-girdle muscular dystrophy, type 2G601954C1866008OMIM122611610604488
HP:0008981HP:0008981Calf muscle hypertrophy0TCAP CL E G H8557601954Limb-girdle muscular dystrophy, type 2G601954C1866008OMIM120011610604488
HP:0008981HP:0008981Calf muscle hypertrophy0TTN CL E G H7273611705Myopathy, early-onset, with fatal cardiomyopathy611705C2673677OMIM11902812403188840
HP:0008981HP:0008981Calf muscle hypertrophy0TTN CL E G H7273611705Myopathy, early-onset, with fatal cardiomyopathy611705C2673677OMIM11798412403188840
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008981HP:0008981Calf muscle hypertrophy0ACTA1 CL E G H582020ORPHA0362129102610
HP:0008981HP:0008981Calf muscle hypertrophy0ACTA1 CL E G H582020ORPHA0325129102610
HP:0008981HP:0008981Calf muscle hypertrophy0ANO5 CL E G H203859206549ORPHA090027337608662
HP:0008981HP:0008981Calf muscle hypertrophy0ANO5 CL E G H203859206549ORPHA078627337608662
HP:0008981HP:0008981Calf muscle hypertrophy0BIN1 CL E G H274169189ORPHA04871052601248
HP:0008981HP:0008981Calf muscle hypertrophy0BIN1 CL E G H274169189ORPHA04311052601248
HP:0008981HP:0008981Calf muscle hypertrophy0CHCHD10 CL E G H400916615048Spinal muscular atrophy, jokela type615048C3554398OMIM023015559615903
HP:0008981HP:0008981Calf muscle hypertrophy0CHCHD10 CL E G H400916615048Spinal muscular atrophy, jokela type615048C3554398OMIM020515559615903
HP:0008981HP:0008981Calf muscle hypertrophy0DNM2 CL E G H1785169189ORPHA07662974602378
HP:0008981HP:0008981Calf muscle hypertrophy0DNM2 CL E G H1785169189ORPHA06752974602378
HP:0008981HP:0008981Calf muscle hypertrophy0HACD1 CL E G H92002020ORPHA0859639610467
HP:0008981HP:0008981Calf muscle hypertrophy0HACD1 CL E G H92002020ORPHA0479639610467
HP:0008981HP:0008981Calf muscle hypertrophy0ITGA7 CL E G H36792020ORPHA06286143600536
HP:0008981HP:0008981Calf muscle hypertrophy0ITGA7 CL E G H36792020ORPHA05236143600536
HP:0008981HP:0008981Calf muscle hypertrophy0KCNA1 CL E G H373637612ORPHA04386218176260
HP:0008981HP:0008981Calf muscle hypertrophy0KCNA1 CL E G H373637612ORPHA03906218176260
HP:0008981HP:0008981Calf muscle hypertrophy0MAP3K20 CL E G H517762020ORPHA016217797609479
HP:0008981HP:0008981Calf muscle hypertrophy0MAP3K20 CL E G H517762020ORPHA07617797609479
HP:0008981HP:0008981Calf muscle hypertrophy0MTMR14 CL E G H64419169189ORPHA011426190611089
HP:0008981HP:0008981Calf muscle hypertrophy0MTMR14 CL E G H64419169189ORPHA07526190611089
HP:0008981HP:0008981Calf muscle hypertrophy0MYF6 CL E G H4618169189ORPHA0797566159991
HP:0008981HP:0008981Calf muscle hypertrophy0MYF6 CL E G H4618169189ORPHA0747566159991
HP:0008981HP:0008981Calf muscle hypertrophy0MYL2 CL E G H46332020ORPHA04067583160781
HP:0008981HP:0008981Calf muscle hypertrophy0MYL2 CL E G H46332020ORPHA03557583160781
HP:0008981HP:0008981Calf muscle hypertrophy0PLEC CL E G H5339254361ORPHA038429069601282
HP:0008981HP:0008981Calf muscle hypertrophy0PLEC CL E G H5339254361ORPHA033559069601282
HP:0008981HP:0008981Calf muscle hypertrophy0PMP22 CL E G H5376101081ORPHA04199118601097
HP:0008981HP:0008981Calf muscle hypertrophy0PMP22 CL E G H5376101081ORPHA03909118601097
HP:0008981HP:0008981Calf muscle hypertrophy0RYR1 CL E G H6261169189ORPHA0460410483180901
HP:0008981HP:0008981Calf muscle hypertrophy0RYR1 CL E G H6261169189ORPHA0410110483180901
HP:0008981HP:0008981Calf muscle hypertrophy0SELENON CL E G H571902020ORPHA050515999606210
HP:0008981HP:0008981Calf muscle hypertrophy0SELENON CL E G H571902020ORPHA045415999606210
HP:0008981HP:0008981Calf muscle hypertrophy0TPM2 CL E G H71692020ORPHA024212011190990
HP:0008981HP:0008981Calf muscle hypertrophy0TPM2 CL E G H71692020ORPHA023412011190990
HP:0008981HP:0008981Calf muscle hypertrophy0TPM3 CL E G H71702020ORPHA028312012191030
HP:0008981HP:0008981Calf muscle hypertrophy0TPM3 CL E G H71702020ORPHA026112012191030
HP:0008981HP:0008981Calf muscle hypertrophy0TTN CL E G H7273178464ORPHA01902812403188840
HP:0008981HP:0008981Calf muscle hypertrophy0TTN CL E G H7273178464ORPHA01798412403188840


Genes (43) :ACTA1 ANO5 AR BIN1 CAPN3 CAV3 CHCHD10 CIDEC CRPPA DMD DNM2 DPM3 FKRP FKTN FRG1 HACD1 ISPD ITGA7 KCNA1 LAMA2 LIMS2 LMNA LTBP4 MAP3K20 MTMR14 MYF6 MYL2 PLEC PLIN1 PMP22 POMGNT2 POMT1 RYR1 SELENON SGCA SGCB SGCD SGCG SLC25A1 TCAP TPM2 TPM3 TTN

Diseases (36) :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.