Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the musculature (HP:0003011)help
Parent Node:
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Abnormality of muscle size (HP:0030236)help
Parent Node:
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obsolete Abnormality of skeletal muscles (HP:0040290)help
..Starting node
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Skeletal muscle hypertrophy (HP:0003712)help
Term ID: 3712
Name: Skeletal muscle hypertrophy
Synonym: Hypertrophic muscles; Increased skeletal muscle cells; Muscle hypertrophy; Muscular hypertrophy
Definition: Hypertrophy (increase in size) of muscle cells (as opposed to hyperplasia, which refers to an increase in the number of muscle cells).
Comments:
Reference: HP:0003712
Genes and Diseases:
 
       Child Nodes:
........expandMacroglossia (HP:0000158) help
................... HP:0030284 Triangular tongue
................... HP:0100875 Hemimacroglossia
........expandGeneralized muscle hypertrophy (HP:0003720) help
........expandMuscle hypertrophy of the lower extremities (HP:0008968) help
................... HP:0003733 Thigh hypertrophy
................... HP:0008981 Calf muscle hypertrophy
........expandMarked muscular hypertrophy (HP:0009042) help
........expandFacial muscle hypertrophy (HP:0012892) 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
................... HP:0040266 Proximal upper limb muscle hypertrophy
................... HP:0040267 Distal upper limb muscle hypertrophy

 Sister Nodes: 
..expandSkeletal muscle atrophy (HP:0003202) help
..expandSkeletal muscle fibrosis (HP:0030951) help
..expandSkeletal muscle steatosis (HP:0040291) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0003712HP:0003712Skeletal muscle hypertrophy0AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1213325603100
HP:0003712HP:0003712Skeletal muscle hypertrophy0BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA143515832606158
HP:0003712HP:0003712Skeletal muscle hypertrophy0CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA11151527601047
HP:0003712HP:0003712Skeletal muscle hypertrophy0CAV3 CL E G H859606072Rippling muscle disease606072C1853698OMIM13901529601253
HP:0003712HP:0003712Skeletal muscle hypertrophy0CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA11129688603198
HP:0003712HP:0003712Skeletal muscle hypertrophy0CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11129688603198
HP:0003712HP:0003712Skeletal muscle hypertrophy0FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM17833622607440
HP:0003712HP:0003712Skeletal muscle hypertrophy0FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA1293796164810
HP:0003712HP:0003712Skeletal muscle hypertrophy0HSPG2 CL E G H3339800ORPHA118305273142461
HP:0003712HP:0003712Skeletal muscle hypertrophy0HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM118305273142461
HP:0003712HP:0003712Skeletal muscle hypertrophy0LMNA CL E G H40002348ORPHA116226636150330
HP:0003712HP:0003712Skeletal muscle hypertrophy0LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM116226636150330
HP:0003712HP:0003712Skeletal muscle hypertrophy0MPZ CL E G H4359101082ORPHA15577225159440
HP:0003712HP:0003712Skeletal muscle hypertrophy0MSTN CL E G H2660614160Muscle hypertrophy614160C0236033OMIM1884223601788
HP:0003712HP:0003712Skeletal muscle hypertrophy0PLIN1 CL E G H5346613877Familial partial lipodystrophy 4613877C3151268OMIM11019076170290
HP:0003712HP:0003712Skeletal muscle hypertrophy0POMGNT1 CL E G H55624613157Limb-girdle muscular dystrophy-dystroglycanopathy, type C3613157C3150417OMIM194319139606822
HP:0003712HP:0003712Skeletal muscle hypertrophy0POMT2 CL E G H29954613158Limb-girdle muscular dystrophy-dystroglycanopathy, type C2613158C3150418OMIM176619743607439
HP:0003712HP:0003712Skeletal muscle hypertrophy0PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA11399236601487
HP:0003712HP:0003712Skeletal muscle hypertrophy0PRPS1 CL E G H563199014ORPHA13609462311850
HP:0003712HP:0003712Skeletal muscle hypertrophy0SCN4A CL E G H6329168300Paramyotonia congenita of von Eulenburg168300C0221055OMIM1139110591603967
HP:0003712HP:0003712Skeletal muscle hypertrophy0SCN4A CL E G H6329608390Potassium aggravated myotonia608390C0752355OMIM1139110591603967
HP:0003712HP:0003712Skeletal muscle hypertrophy0SHOX CL E G H6473314795ORPHA131110853312865
HP:0003712HP:0003712Skeletal muscle hypertrophy0SHOX CL E G H6473127300Leri Weill dyschondrosteosis127300C0265309OMIM131110853312865
HP:0003712HP:0003712Skeletal muscle hypertrophy0SMAD4 CL E G H40892588ORPHA117396770600993
HP:0003712HP:0003720Generalized muscle hypertrophy1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1213325603100
HP:0003712HP:0012895Scapular muscle hypertrophy1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1213325603100
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1213325603100
HP:0003712HP:0012894Paraspinal muscle hypertrophy1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1213325603100
HP:0003712HP:0000158Macroglossia1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1213325603100
HP:0003712HP:0009042Marked muscular hypertrophy1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1213325603100
HP:0003712HP:0012892Facial muscle hypertrophy1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1213325603100
HP:0003712HP:0012893Neck muscle hypertrophy1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1213325603100
HP:0003712HP:0040265Upper limb muscle hypertrophy1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1213325603100
HP:0003712HP:0003720Generalized muscle hypertrophy1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA143515832606158
HP:0003712HP:0012895Scapular muscle hypertrophy1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA143515832606158
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA143515832606158
HP:0003712HP:0000158Macroglossia1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA143515832606158
HP:0003712HP:0012894Paraspinal muscle hypertrophy1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA143515832606158
HP:0003712HP:0012892Facial muscle hypertrophy1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA143515832606158
HP:0003712HP:0012893Neck muscle hypertrophy1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA143515832606158
HP:0003712HP:0040265Upper limb muscle hypertrophy1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA143515832606158
HP:0003712HP:0009042Marked muscular hypertrophy1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA143515832606158
HP:0003712HP:0003720Generalized muscle hypertrophy1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA11151527601047
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA11151527601047
HP:0003712HP:0012895Scapular muscle hypertrophy1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA11151527601047
HP:0003712HP:0000158Macroglossia1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA11151527601047
HP:0003712HP:0012894Paraspinal muscle hypertrophy1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA11151527601047
HP:0003712HP:0012892Facial muscle hypertrophy1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA11151527601047
HP:0003712HP:0012893Neck muscle hypertrophy1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA11151527601047
HP:0003712HP:0040265Upper limb muscle hypertrophy1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA11151527601047
HP:0003712HP:0009042Marked muscular hypertrophy1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA11151527601047
HP:0003712HP:0003720Generalized muscle hypertrophy1CAV3 CL E G H859606072Rippling muscle disease606072C1853698OMIM13901529601253
HP:0003712HP:0012895Scapular muscle hypertrophy1CAV3 CL E G H859606072Rippling muscle disease606072C1853698OMIM13901529601253
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1CAV3 CL E G H859606072Rippling muscle disease606072C1853698OMIM13901529601253
HP:0003712HP:0012894Paraspinal muscle hypertrophy1CAV3 CL E G H859606072Rippling muscle disease606072C1853698OMIM13901529601253
HP:0003712HP:0000158Macroglossia1CAV3 CL E G H859606072Rippling muscle disease606072C1853698OMIM13901529601253
HP:0003712HP:0009042Marked muscular hypertrophy1CAV3 CL E G H859606072Rippling muscle disease606072C1853698OMIM13901529601253
HP:0003712HP:0012892Facial muscle hypertrophy1CAV3 CL E G H859606072Rippling muscle disease606072C1853698OMIM13901529601253
HP:0003712HP:0012893Neck muscle hypertrophy1CAV3 CL E G H859606072Rippling muscle disease606072C1853698OMIM13901529601253
HP:0003712HP:0040265Upper limb muscle hypertrophy1CAV3 CL E G H859606072Rippling muscle disease606072C1853698OMIM13901529601253
HP:0003712HP:0003720Generalized muscle hypertrophy1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA11129688603198
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA11129688603198
HP:0003712HP:0012895Scapular muscle hypertrophy1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA11129688603198
HP:0003712HP:0000158Macroglossia1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA11129688603198
HP:0003712HP:0012894Paraspinal muscle hypertrophy1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA11129688603198
HP:0003712HP:0012892Facial muscle hypertrophy1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA11129688603198
HP:0003712HP:0012893Neck muscle hypertrophy1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA11129688603198
HP:0003712HP:0040265Upper limb muscle hypertrophy1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA11129688603198
HP:0003712HP:0009042Marked muscular hypertrophy1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA11129688603198
HP:0003712HP:0003720Generalized muscle hypertrophy1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11129688603198
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11129688603198
HP:0003712HP:0012895Scapular muscle hypertrophy1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11129688603198
HP:0003712HP:0012894Paraspinal muscle hypertrophy1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11129688603198
HP:0003712HP:0000158Macroglossia1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11129688603198
HP:0003712HP:0012893Neck muscle hypertrophy1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11129688603198
HP:0003712HP:0040265Upper limb muscle hypertrophy1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11129688603198
HP:0003712HP:0009042Marked muscular hypertrophy1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11129688603198
HP:0003712HP:0012892Facial muscle hypertrophy1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11129688603198
HP:0003712HP:0003720Generalized muscle hypertrophy1FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM17833622607440
HP:0003712HP:0012895Scapular muscle hypertrophy1FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM17833622607440
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM17833622607440
HP:0003712HP:0000158Macroglossia1FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM17833622607440
HP:0003712HP:0012894Paraspinal muscle hypertrophy1FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM17833622607440
HP:0003712HP:0012892Facial muscle hypertrophy1FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM17833622607440
HP:0003712HP:0012893Neck muscle hypertrophy1FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM17833622607440
HP:0003712HP:0040265Upper limb muscle hypertrophy1FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM17833622607440
HP:0003712HP:0009042Marked muscular hypertrophy1FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM17833622607440
HP:0003712HP:0003720Generalized muscle hypertrophy1FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA1293796164810
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA1293796164810
HP:0003712HP:0012895Scapular muscle hypertrophy1FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA1293796164810
HP:0003712HP:0012894Paraspinal muscle hypertrophy1FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA1293796164810
HP:0003712HP:0000158Macroglossia1FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA1293796164810
HP:0003712HP:0012893Neck muscle hypertrophy1FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA1293796164810
HP:0003712HP:0040265Upper limb muscle hypertrophy1FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA1293796164810
HP:0003712HP:0009042Marked muscular hypertrophy1FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA1293796164810
HP:0003712HP:0012892Facial muscle hypertrophy1FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA1293796164810
HP:0003712HP:0003720Generalized muscle hypertrophy1HSPG2 CL E G H3339800ORPHA118305273142461
HP:0003712HP:0012895Scapular muscle hypertrophy1HSPG2 CL E G H3339800ORPHA118305273142461
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1HSPG2 CL E G H3339800ORPHA118305273142461
HP:0003712HP:0012894Paraspinal muscle hypertrophy1HSPG2 CL E G H3339800ORPHA118305273142461
HP:0003712HP:0000158Macroglossia1HSPG2 CL E G H3339800ORPHA118305273142461
HP:0003712HP:0009042Marked muscular hypertrophy1HSPG2 CL E G H3339800ORPHA118305273142461
HP:0003712HP:0012892Facial muscle hypertrophy1HSPG2 CL E G H3339800ORPHA118305273142461
HP:0003712HP:0012893Neck muscle hypertrophy1HSPG2 CL E G H3339800ORPHA118305273142461
HP:0003712HP:0040265Upper limb muscle hypertrophy1HSPG2 CL E G H3339800ORPHA118305273142461
HP:0003712HP:0003720Generalized muscle hypertrophy1HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM118305273142461
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM118305273142461
HP:0003712HP:0012895Scapular muscle hypertrophy1HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM118305273142461
HP:0003712HP:0012894Paraspinal muscle hypertrophy1HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM118305273142461
HP:0003712HP:0000158Macroglossia1HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM118305273142461
HP:0003712HP:0040265Upper limb muscle hypertrophy1HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM118305273142461
HP:0003712HP:0009042Marked muscular hypertrophy1HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM118305273142461
HP:0003712HP:0012892Facial muscle hypertrophy1HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM118305273142461
HP:0003712HP:0012893Neck muscle hypertrophy1HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM118305273142461
HP:0003712HP:0003720Generalized muscle hypertrophy1LMNA CL E G H40002348ORPHA116226636150330
HP:0003712HP:0012895Scapular muscle hypertrophy1LMNA CL E G H40002348ORPHA116226636150330
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1LMNA CL E G H40002348ORPHA116226636150330
HP:0003712HP:0000158Macroglossia1LMNA CL E G H40002348ORPHA116226636150330
HP:0003712HP:0012894Paraspinal muscle hypertrophy1LMNA CL E G H40002348ORPHA116226636150330
HP:0003712HP:0012892Facial muscle hypertrophy1LMNA CL E G H40002348ORPHA116226636150330
HP:0003712HP:0012893Neck muscle hypertrophy1LMNA CL E G H40002348ORPHA116226636150330
HP:0003712HP:0040265Upper limb muscle hypertrophy1LMNA CL E G H40002348ORPHA116226636150330
HP:0003712HP:0009042Marked muscular hypertrophy1LMNA CL E G H40002348ORPHA116226636150330
HP:0003712HP:0003720Generalized muscle hypertrophy1LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM116226636150330
HP:0003712HP:0012895Scapular muscle hypertrophy1LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM116226636150330
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM116226636150330
HP:0003712HP:0012894Paraspinal muscle hypertrophy1LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM116226636150330
HP:0003712HP:0000158Macroglossia1LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM116226636150330
HP:0003712HP:0009042Marked muscular hypertrophy1LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM116226636150330
HP:0003712HP:0012892Facial muscle hypertrophy1LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM116226636150330
HP:0003712HP:0012893Neck muscle hypertrophy1LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM116226636150330
HP:0003712HP:0040265Upper limb muscle hypertrophy1LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM116226636150330
HP:0003712HP:0009042Marked muscular hypertrophy1MPZ CL E G H4359101082ORPHA15577225159440
HP:0003712HP:0003720Generalized muscle hypertrophy1MPZ CL E G H4359101082ORPHA15577225159440
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1MPZ CL E G H4359101082ORPHA15577225159440
HP:0003712HP:0012895Scapular muscle hypertrophy1MPZ CL E G H4359101082ORPHA15577225159440
HP:0003712HP:0000158Macroglossia1MPZ CL E G H4359101082ORPHA15577225159440
HP:0003712HP:0012894Paraspinal muscle hypertrophy1MPZ CL E G H4359101082ORPHA15577225159440
HP:0003712HP:0040265Upper limb muscle hypertrophy1MPZ CL E G H4359101082ORPHA15577225159440
HP:0003712HP:0012892Facial muscle hypertrophy1MPZ CL E G H4359101082ORPHA15577225159440
HP:0003712HP:0012893Neck muscle hypertrophy1MPZ CL E G H4359101082ORPHA15577225159440
HP:0003712HP:0003720Generalized muscle hypertrophy1MSTN CL E G H2660614160Muscle hypertrophy614160C0236033OMIM1884223601788
HP:0003712HP:0012895Scapular muscle hypertrophy1MSTN CL E G H2660614160Muscle hypertrophy614160C0236033OMIM1884223601788
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1MSTN CL E G H2660614160Muscle hypertrophy614160C0236033OMIM1884223601788
HP:0003712HP:0012894Paraspinal muscle hypertrophy1MSTN CL E G H2660614160Muscle hypertrophy614160C0236033OMIM1884223601788
HP:0003712HP:0000158Macroglossia1MSTN CL E G H2660614160Muscle hypertrophy614160C0236033OMIM1884223601788
HP:0003712HP:0009042Marked muscular hypertrophy1MSTN CL E G H2660614160Muscle hypertrophy614160C0236033OMIM1884223601788
HP:0003712HP:0012892Facial muscle hypertrophy1MSTN CL E G H2660614160Muscle hypertrophy614160C0236033OMIM1884223601788
HP:0003712HP:0012893Neck muscle hypertrophy1MSTN CL E G H2660614160Muscle hypertrophy614160C0236033OMIM1884223601788
HP:0003712HP:0040265Upper limb muscle hypertrophy1MSTN CL E G H2660614160Muscle hypertrophy614160C0236033OMIM1884223601788
HP:0003712HP:0003720Generalized muscle hypertrophy1PLIN1 CL E G H5346613877Familial partial lipodystrophy 4613877C3151268OMIM11019076170290
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1PLIN1 CL E G H5346613877Familial partial lipodystrophy 4613877C3151268OMIM11019076170290
HP:0003712HP:0012895Scapular muscle hypertrophy1PLIN1 CL E G H5346613877Familial partial lipodystrophy 4613877C3151268OMIM11019076170290
HP:0003712HP:0012894Paraspinal muscle hypertrophy1PLIN1 CL E G H5346613877Familial partial lipodystrophy 4613877C3151268OMIM11019076170290
HP:0003712HP:0000158Macroglossia1PLIN1 CL E G H5346613877Familial partial lipodystrophy 4613877C3151268OMIM11019076170290
HP:0003712HP:0040265Upper limb muscle hypertrophy1PLIN1 CL E G H5346613877Familial partial lipodystrophy 4613877C3151268OMIM11019076170290
HP:0003712HP:0009042Marked muscular hypertrophy1PLIN1 CL E G H5346613877Familial partial lipodystrophy 4613877C3151268OMIM11019076170290
HP:0003712HP:0012892Facial muscle hypertrophy1PLIN1 CL E G H5346613877Familial partial lipodystrophy 4613877C3151268OMIM11019076170290
HP:0003712HP:0012893Neck muscle hypertrophy1PLIN1 CL E G H5346613877Familial partial lipodystrophy 4613877C3151268OMIM11019076170290
HP:0003712HP:0003720Generalized muscle hypertrophy1POMGNT1 CL E G H55624613157Limb-girdle muscular dystrophy-dystroglycanopathy, type C3613157C3150417OMIM194319139606822
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1POMGNT1 CL E G H55624613157Limb-girdle muscular dystrophy-dystroglycanopathy, type C3613157C3150417OMIM194319139606822
HP:0003712HP:0012895Scapular muscle hypertrophy1POMGNT1 CL E G H55624613157Limb-girdle muscular dystrophy-dystroglycanopathy, type C3613157C3150417OMIM194319139606822
HP:0003712HP:0000158Macroglossia1POMGNT1 CL E G H55624613157Limb-girdle muscular dystrophy-dystroglycanopathy, type C3613157C3150417OMIM194319139606822
HP:0003712HP:0012894Paraspinal muscle hypertrophy1POMGNT1 CL E G H55624613157Limb-girdle muscular dystrophy-dystroglycanopathy, type C3613157C3150417OMIM194319139606822
HP:0003712HP:0012892Facial muscle hypertrophy1POMGNT1 CL E G H55624613157Limb-girdle muscular dystrophy-dystroglycanopathy, type C3613157C3150417OMIM194319139606822
HP:0003712HP:0012893Neck muscle hypertrophy1POMGNT1 CL E G H55624613157Limb-girdle muscular dystrophy-dystroglycanopathy, type C3613157C3150417OMIM194319139606822
HP:0003712HP:0040265Upper limb muscle hypertrophy1POMGNT1 CL E G H55624613157Limb-girdle muscular dystrophy-dystroglycanopathy, type C3613157C3150417OMIM194319139606822
HP:0003712HP:0009042Marked muscular hypertrophy1POMGNT1 CL E G H55624613157Limb-girdle muscular dystrophy-dystroglycanopathy, type C3613157C3150417OMIM194319139606822
HP:0003712HP:0003720Generalized muscle hypertrophy1POMT2 CL E G H29954613158Limb-girdle muscular dystrophy-dystroglycanopathy, type C2613158C3150418OMIM176619743607439
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1POMT2 CL E G H29954613158Limb-girdle muscular dystrophy-dystroglycanopathy, type C2613158C3150418OMIM176619743607439
HP:0003712HP:0012895Scapular muscle hypertrophy1POMT2 CL E G H29954613158Limb-girdle muscular dystrophy-dystroglycanopathy, type C2613158C3150418OMIM176619743607439
HP:0003712HP:0000158Macroglossia1POMT2 CL E G H29954613158Limb-girdle muscular dystrophy-dystroglycanopathy, type C2613158C3150418OMIM176619743607439
HP:0003712HP:0012894Paraspinal muscle hypertrophy1POMT2 CL E G H29954613158Limb-girdle muscular dystrophy-dystroglycanopathy, type C2613158C3150418OMIM176619743607439
HP:0003712HP:0012893Neck muscle hypertrophy1POMT2 CL E G H29954613158Limb-girdle muscular dystrophy-dystroglycanopathy, type C2613158C3150418OMIM176619743607439
HP:0003712HP:0040265Upper limb muscle hypertrophy1POMT2 CL E G H29954613158Limb-girdle muscular dystrophy-dystroglycanopathy, type C2613158C3150418OMIM176619743607439
HP:0003712HP:0009042Marked muscular hypertrophy1POMT2 CL E G H29954613158Limb-girdle muscular dystrophy-dystroglycanopathy, type C2613158C3150418OMIM176619743607439
HP:0003712HP:0012892Facial muscle hypertrophy1POMT2 CL E G H29954613158Limb-girdle muscular dystrophy-dystroglycanopathy, type C2613158C3150418OMIM176619743607439
HP:0003712HP:0003720Generalized muscle hypertrophy1PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA11399236601487
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA11399236601487
HP:0003712HP:0012895Scapular muscle hypertrophy1PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA11399236601487
HP:0003712HP:0012894Paraspinal muscle hypertrophy1PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA11399236601487
HP:0003712HP:0000158Macroglossia1PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA11399236601487
HP:0003712HP:0040265Upper limb muscle hypertrophy1PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA11399236601487
HP:0003712HP:0009042Marked muscular hypertrophy1PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA11399236601487
HP:0003712HP:0012892Facial muscle hypertrophy1PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA11399236601487
HP:0003712HP:0012893Neck muscle hypertrophy1PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA11399236601487
HP:0003712HP:0003720Generalized muscle hypertrophy1PRPS1 CL E G H563199014ORPHA13609462311850
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1PRPS1 CL E G H563199014ORPHA13609462311850
HP:0003712HP:0012895Scapular muscle hypertrophy1PRPS1 CL E G H563199014ORPHA13609462311850
HP:0003712HP:0000158Macroglossia1PRPS1 CL E G H563199014ORPHA13609462311850
HP:0003712HP:0012894Paraspinal muscle hypertrophy1PRPS1 CL E G H563199014ORPHA13609462311850
HP:0003712HP:0012892Facial muscle hypertrophy1PRPS1 CL E G H563199014ORPHA13609462311850
HP:0003712HP:0012893Neck muscle hypertrophy1PRPS1 CL E G H563199014ORPHA13609462311850
HP:0003712HP:0040265Upper limb muscle hypertrophy1PRPS1 CL E G H563199014ORPHA13609462311850
HP:0003712HP:0009042Marked muscular hypertrophy1PRPS1 CL E G H563199014ORPHA13609462311850
HP:0003712HP:0003720Generalized muscle hypertrophy1SCN4A CL E G H6329168300Paramyotonia congenita of von Eulenburg168300C0221055OMIM1139110591603967
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1SCN4A CL E G H6329168300Paramyotonia congenita of von Eulenburg168300C0221055OMIM1139110591603967
HP:0003712HP:0012895Scapular muscle hypertrophy1SCN4A CL E G H6329168300Paramyotonia congenita of von Eulenburg168300C0221055OMIM1139110591603967
HP:0003712HP:0000158Macroglossia1SCN4A CL E G H6329168300Paramyotonia congenita of von Eulenburg168300C0221055OMIM1139110591603967
HP:0003712HP:0012894Paraspinal muscle hypertrophy1SCN4A CL E G H6329168300Paramyotonia congenita of von Eulenburg168300C0221055OMIM1139110591603967
HP:0003712HP:0012893Neck muscle hypertrophy1SCN4A CL E G H6329168300Paramyotonia congenita of von Eulenburg168300C0221055OMIM1139110591603967
HP:0003712HP:0040265Upper limb muscle hypertrophy1SCN4A CL E G H6329168300Paramyotonia congenita of von Eulenburg168300C0221055OMIM1139110591603967
HP:0003712HP:0009042Marked muscular hypertrophy1SCN4A CL E G H6329168300Paramyotonia congenita of von Eulenburg168300C0221055OMIM1139110591603967
HP:0003712HP:0012892Facial muscle hypertrophy1SCN4A CL E G H6329168300Paramyotonia congenita of von Eulenburg168300C0221055OMIM1139110591603967
HP:0003712HP:0003720Generalized muscle hypertrophy1SCN4A CL E G H6329608390Potassium aggravated myotonia608390C0752355OMIM1139110591603967
HP:0003712HP:0012895Scapular muscle hypertrophy1SCN4A CL E G H6329608390Potassium aggravated myotonia608390C0752355OMIM1139110591603967
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1SCN4A CL E G H6329608390Potassium aggravated myotonia608390C0752355OMIM1139110591603967
HP:0003712HP:0012894Paraspinal muscle hypertrophy1SCN4A CL E G H6329608390Potassium aggravated myotonia608390C0752355OMIM1139110591603967
HP:0003712HP:0000158Macroglossia1SCN4A CL E G H6329608390Potassium aggravated myotonia608390C0752355OMIM1139110591603967
HP:0003712HP:0009042Marked muscular hypertrophy1SCN4A CL E G H6329608390Potassium aggravated myotonia608390C0752355OMIM1139110591603967
HP:0003712HP:0012892Facial muscle hypertrophy1SCN4A CL E G H6329608390Potassium aggravated myotonia608390C0752355OMIM1139110591603967
HP:0003712HP:0012893Neck muscle hypertrophy1SCN4A CL E G H6329608390Potassium aggravated myotonia608390C0752355OMIM1139110591603967
HP:0003712HP:0040265Upper limb muscle hypertrophy1SCN4A CL E G H6329608390Potassium aggravated myotonia608390C0752355OMIM1139110591603967
HP:0003712HP:0009042Marked muscular hypertrophy1SHOX CL E G H6473314795ORPHA131110853312865
HP:0003712HP:0012892Facial muscle hypertrophy1SHOX CL E G H6473314795ORPHA131110853312865
HP:0003712HP:0012893Neck muscle hypertrophy1SHOX CL E G H6473314795ORPHA131110853312865
HP:0003712HP:0040265Upper limb muscle hypertrophy1SHOX CL E G H6473314795ORPHA131110853312865
HP:0003712HP:0003720Generalized muscle hypertrophy1SHOX CL E G H6473314795ORPHA131110853312865
HP:0003712HP:0012895Scapular muscle hypertrophy1SHOX CL E G H6473314795ORPHA131110853312865
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1SHOX CL E G H6473314795ORPHA131110853312865
HP:0003712HP:0012894Paraspinal muscle hypertrophy1SHOX CL E G H6473314795ORPHA131110853312865
HP:0003712HP:0000158Macroglossia1SHOX CL E G H6473314795ORPHA131110853312865
HP:0003712HP:0003720Generalized muscle hypertrophy1SHOX CL E G H6473127300Leri Weill dyschondrosteosis127300C0265309OMIM131110853312865
HP:0003712HP:0012895Scapular muscle hypertrophy1SHOX CL E G H6473127300Leri Weill dyschondrosteosis127300C0265309OMIM131110853312865
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1SHOX CL E G H6473127300Leri Weill dyschondrosteosis127300C0265309OMIM131110853312865
HP:0003712HP:0012894Paraspinal muscle hypertrophy1SHOX CL E G H6473127300Leri Weill dyschondrosteosis127300C0265309OMIM131110853312865
HP:0003712HP:0000158Macroglossia1SHOX CL E G H6473127300Leri Weill dyschondrosteosis127300C0265309OMIM131110853312865
HP:0003712HP:0040265Upper limb muscle hypertrophy1SHOX CL E G H6473127300Leri Weill dyschondrosteosis127300C0265309OMIM131110853312865
HP:0003712HP:0009042Marked muscular hypertrophy1SHOX CL E G H6473127300Leri Weill dyschondrosteosis127300C0265309OMIM131110853312865
HP:0003712HP:0012892Facial muscle hypertrophy1SHOX CL E G H6473127300Leri Weill dyschondrosteosis127300C0265309OMIM131110853312865
HP:0003712HP:0012893Neck muscle hypertrophy1SHOX CL E G H6473127300Leri Weill dyschondrosteosis127300C0265309OMIM131110853312865
HP:0003712HP:0003720Generalized muscle hypertrophy1SMAD4 CL E G H40892588ORPHA117396770600993
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1SMAD4 CL E G H40892588ORPHA117396770600993
HP:0003712HP:0012895Scapular muscle hypertrophy1SMAD4 CL E G H40892588ORPHA117396770600993
HP:0003712HP:0000158Macroglossia1SMAD4 CL E G H40892588ORPHA117396770600993
HP:0003712HP:0012894Paraspinal muscle hypertrophy1SMAD4 CL E G H40892588ORPHA117396770600993
HP:0003712HP:0012892Facial muscle hypertrophy1SMAD4 CL E G H40892588ORPHA117396770600993
HP:0003712HP:0012893Neck muscle hypertrophy1SMAD4 CL E G H40892588ORPHA117396770600993
HP:0003712HP:0040265Upper limb muscle hypertrophy1SMAD4 CL E G H40892588ORPHA117396770600993
HP:0003712HP:0009042Marked muscular hypertrophy1SMAD4 CL E G H40892588ORPHA117396770600993
HP:0003712HP:0030284Triangular tongue2AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1213325603100
HP:0003712HP:0003733Thigh hypertrophy2AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1213325603100
HP:0003712HP:0100875Hemimacroglossia2AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1213325603100
HP:0003712HP:0040266Proximal upper limb muscle hypertrophy2AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1213325603100
HP:0003712HP:0008981Calf muscle hypertrophy2AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1213325603100
HP:0003712HP:0040267Distal upper limb muscle hypertrophy2AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1213325603100
HP:0003712HP:0030284Triangular tongue2BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA143515832606158
HP:0003712HP:0003733Thigh hypertrophy2BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA143515832606158
HP:0003712HP:0100875Hemimacroglossia2BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA143515832606158
HP:0003712HP:0040266Proximal upper limb muscle hypertrophy2BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA143515832606158
HP:0003712HP:0008981Calf muscle hypertrophy2BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA143515832606158
HP:0003712HP:0040267Distal upper limb muscle hypertrophy2BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA143515832606158
HP:0003712HP:0030284Triangular tongue2CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA11151527601047
HP:0003712HP:0003733Thigh hypertrophy2CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA11151527601047
HP:0003712HP:0100875Hemimacroglossia2CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA11151527601047
HP:0003712HP:0040266Proximal upper limb muscle hypertrophy2CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA11151527601047
HP:0003712HP:0008981Calf muscle hypertrophy2CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA11151527601047
HP:0003712HP:0040267Distal upper limb muscle hypertrophy2CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA11151527601047
HP:0003712HP:0030284Triangular tongue2CAV3 CL E G H859606072Rippling muscle disease606072C1853698OMIM13901529601253
HP:0003712HP:0003733Thigh hypertrophy2CAV3 CL E G H859606072Rippling muscle disease606072C1853698OMIM13901529601253
HP:0003712HP:0040266Proximal upper limb muscle hypertrophy2CAV3 CL E G H859606072Rippling muscle disease606072C1853698OMIM13901529601253
HP:0003712HP:0100875Hemimacroglossia2CAV3 CL E G H859606072Rippling muscle disease606072C1853698OMIM13901529601253
HP:0003712HP:0040267Distal upper limb muscle hypertrophy2CAV3 CL E G H859606072Rippling muscle disease606072C1853698OMIM13901529601253
HP:0003712HP:0008981Calf muscle hypertrophy2CAV3 CL E G H859606072Rippling muscle disease606072C1853698OMIM13901529601253
HP:0003712HP:0030284Triangular tongue2CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA11129688603198
HP:0003712HP:0003733Thigh hypertrophy2CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA11129688603198
HP:0003712HP:0100875Hemimacroglossia2CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA11129688603198
HP:0003712HP:0040266Proximal upper limb muscle hypertrophy2CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA11129688603198
HP:0003712HP:0008981Calf muscle hypertrophy2CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA11129688603198
HP:0003712HP:0040267Distal upper limb muscle hypertrophy2CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA11129688603198
HP:0003712HP:0030284Triangular tongue2CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11129688603198
HP:0003712HP:0003733Thigh hypertrophy2CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11129688603198
HP:0003712HP:0040266Proximal upper limb muscle hypertrophy2CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11129688603198
HP:0003712HP:0100875Hemimacroglossia2CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11129688603198
HP:0003712HP:0008981Calf muscle hypertrophy2CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11129688603198
HP:0003712HP:0040267Distal upper limb muscle hypertrophy2CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11129688603198
HP:0003712HP:0030284Triangular tongue2FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM17833622607440
HP:0003712HP:0003733Thigh hypertrophy2FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM17833622607440
HP:0003712HP:0100875Hemimacroglossia2FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM17833622607440
HP:0003712HP:0040266Proximal upper limb muscle hypertrophy2FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM17833622607440
HP:0003712HP:0008981Calf muscle hypertrophy2FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM17833622607440
HP:0003712HP:0040267Distal upper limb muscle hypertrophy2FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM17833622607440
HP:0003712HP:0030284Triangular tongue2FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA1293796164810
HP:0003712HP:0003733Thigh hypertrophy2FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA1293796164810
HP:0003712HP:0040266Proximal upper limb muscle hypertrophy2FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA1293796164810
HP:0003712HP:0100875Hemimacroglossia2FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA1293796164810
HP:0003712HP:0008981Calf muscle hypertrophy2FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA1293796164810
HP:0003712HP:0040267Distal upper limb muscle hypertrophy2FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA1293796164810
HP:0003712HP:0030284Triangular tongue2HSPG2 CL E G H3339800ORPHA118305273142461
HP:0003712HP:0003733Thigh hypertrophy2HSPG2 CL E G H3339800ORPHA118305273142461
HP:0003712HP:0100875Hemimacroglossia2HSPG2 CL E G H3339800ORPHA118305273142461
HP:0003712HP:0040266Proximal upper limb muscle hypertrophy2HSPG2 CL E G H3339800ORPHA118305273142461
HP:0003712HP:0008981Calf muscle hypertrophy2HSPG2 CL E G H3339800ORPHA118305273142461
HP:0003712HP:0040267Distal upper limb muscle hypertrophy2HSPG2 CL E G H3339800ORPHA118305273142461
HP:0003712HP:0003733Thigh hypertrophy2HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM118305273142461
HP:0003712HP:0030284Triangular tongue2HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM118305273142461
HP:0003712HP:0040266Proximal upper limb muscle hypertrophy2HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM118305273142461
HP:0003712HP:0100875Hemimacroglossia2HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM118305273142461
HP:0003712HP:0040267Distal upper limb muscle hypertrophy2HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM118305273142461
HP:0003712HP:0008981Calf muscle hypertrophy2HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM118305273142461
HP:0003712HP:0030284Triangular tongue2LMNA CL E G H40002348ORPHA116226636150330
HP:0003712HP:0003733Thigh hypertrophy2LMNA CL E G H40002348ORPHA116226636150330
HP:0003712HP:0100875Hemimacroglossia2LMNA CL E G H40002348ORPHA116226636150330
HP:0003712HP:0040266Proximal upper limb muscle hypertrophy2LMNA CL E G H40002348ORPHA116226636150330
HP:0003712HP:0008981Calf muscle hypertrophy2LMNA CL E G H40002348ORPHA116226636150330
HP:0003712HP:0040267Distal upper limb muscle hypertrophy2LMNA CL E G H40002348ORPHA116226636150330
HP:0003712HP:0030284Triangular tongue2LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM116226636150330
HP:0003712HP:0003733Thigh hypertrophy2LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM116226636150330
HP:0003712HP:0100875Hemimacroglossia2LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM116226636150330
HP:0003712HP:0040266Proximal upper limb muscle hypertrophy2LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM116226636150330
HP:0003712HP:0008981Calf muscle hypertrophy2LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM116226636150330
HP:0003712HP:0040267Distal upper limb muscle hypertrophy2LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM116226636150330
HP:0003712HP:0030284Triangular tongue2MPZ CL E G H4359101082ORPHA15577225159440
HP:0003712HP:0003733Thigh hypertrophy2MPZ CL E G H4359101082ORPHA15577225159440
HP:0003712HP:0100875Hemimacroglossia2MPZ CL E G H4359101082ORPHA15577225159440
HP:0003712HP:0040266Proximal upper limb muscle hypertrophy2MPZ CL E G H4359101082ORPHA15577225159440
HP:0003712HP:0008981Calf muscle hypertrophy2MPZ CL E G H4359101082ORPHA15577225159440
HP:0003712HP:0040267Distal upper limb muscle hypertrophy2MPZ CL E G H4359101082ORPHA15577225159440
HP:0003712HP:0030284Triangular tongue2MSTN CL E G H2660614160Muscle hypertrophy614160C0236033OMIM1884223601788
HP:0003712HP:0003733Thigh hypertrophy2MSTN CL E G H2660614160Muscle hypertrophy614160C0236033OMIM1884223601788
HP:0003712HP:0040266Proximal upper limb muscle hypertrophy2MSTN CL E G H2660614160Muscle hypertrophy614160C0236033OMIM1884223601788
HP:0003712HP:0100875Hemimacroglossia2MSTN CL E G H2660614160Muscle hypertrophy614160C0236033OMIM1884223601788
HP:0003712HP:0040267Distal upper limb muscle hypertrophy2MSTN CL E G H2660614160Muscle hypertrophy614160C0236033OMIM1884223601788
HP:0003712HP:0008981Calf muscle hypertrophy2MSTN CL E G H2660614160Muscle hypertrophy614160C0236033OMIM1884223601788
HP:0003712HP:0003733Thigh hypertrophy2PLIN1 CL E G H5346613877Familial partial lipodystrophy 4613877C3151268OMIM11019076170290
HP:0003712HP:0030284Triangular tongue2PLIN1 CL E G H5346613877Familial partial lipodystrophy 4613877C3151268OMIM11019076170290
HP:0003712HP:0040266Proximal upper limb muscle hypertrophy2PLIN1 CL E G H5346613877Familial partial lipodystrophy 4613877C3151268OMIM11019076170290
HP:0003712HP:0100875Hemimacroglossia2PLIN1 CL E G H5346613877Familial partial lipodystrophy 4613877C3151268OMIM11019076170290
HP:0003712HP:0040267Distal upper limb muscle hypertrophy2PLIN1 CL E G H5346613877Familial partial lipodystrophy 4613877C3151268OMIM11019076170290
HP:0003712HP:0008981Calf muscle hypertrophy2PLIN1 CL E G H5346613877Familial partial lipodystrophy 4613877C3151268OMIM11019076170290
HP:0003712HP:0030284Triangular tongue2POMGNT1 CL E G H55624613157Limb-girdle muscular dystrophy-dystroglycanopathy, type C3613157C3150417OMIM194319139606822
HP:0003712HP:0003733Thigh hypertrophy2POMGNT1 CL E G H55624613157Limb-girdle muscular dystrophy-dystroglycanopathy, type C3613157C3150417OMIM194319139606822
HP:0003712HP:0100875Hemimacroglossia2POMGNT1 CL E G H55624613157Limb-girdle muscular dystrophy-dystroglycanopathy, type C3613157C3150417OMIM194319139606822
HP:0003712HP:0040266Proximal upper limb muscle hypertrophy2POMGNT1 CL E G H55624613157Limb-girdle muscular dystrophy-dystroglycanopathy, type C3613157C3150417OMIM194319139606822
HP:0003712HP:0008981Calf muscle hypertrophy2POMGNT1 CL E G H55624613157Limb-girdle muscular dystrophy-dystroglycanopathy, type C3613157C3150417OMIM194319139606822
HP:0003712HP:0040267Distal upper limb muscle hypertrophy2POMGNT1 CL E G H55624613157Limb-girdle muscular dystrophy-dystroglycanopathy, type C3613157C3150417OMIM194319139606822
HP:0003712HP:0030284Triangular tongue2POMT2 CL E G H29954613158Limb-girdle muscular dystrophy-dystroglycanopathy, type C2613158C3150418OMIM176619743607439
HP:0003712HP:0003733Thigh hypertrophy2POMT2 CL E G H29954613158Limb-girdle muscular dystrophy-dystroglycanopathy, type C2613158C3150418OMIM176619743607439
HP:0003712HP:0100875Hemimacroglossia2POMT2 CL E G H29954613158Limb-girdle muscular dystrophy-dystroglycanopathy, type C2613158C3150418OMIM176619743607439
HP:0003712HP:0040266Proximal upper limb muscle hypertrophy2POMT2 CL E G H29954613158Limb-girdle muscular dystrophy-dystroglycanopathy, type C2613158C3150418OMIM176619743607439
HP:0003712HP:0008981Calf muscle hypertrophy2POMT2 CL E G H29954613158Limb-girdle muscular dystrophy-dystroglycanopathy, type C2613158C3150418OMIM176619743607439
HP:0003712HP:0040267Distal upper limb muscle hypertrophy2POMT2 CL E G H29954613158Limb-girdle muscular dystrophy-dystroglycanopathy, type C2613158C3150418OMIM176619743607439
HP:0003712HP:0003733Thigh hypertrophy2PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA11399236601487
HP:0003712HP:0030284Triangular tongue2PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA11399236601487
HP:0003712HP:0040266Proximal upper limb muscle hypertrophy2PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA11399236601487
HP:0003712HP:0100875Hemimacroglossia2PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA11399236601487
HP:0003712HP:0040267Distal upper limb muscle hypertrophy2PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA11399236601487
HP:0003712HP:0008981Calf muscle hypertrophy2PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA11399236601487
HP:0003712HP:0030284Triangular tongue2PRPS1 CL E G H563199014ORPHA13609462311850
HP:0003712HP:0003733Thigh hypertrophy2PRPS1 CL E G H563199014ORPHA13609462311850
HP:0003712HP:0100875Hemimacroglossia2PRPS1 CL E G H563199014ORPHA13609462311850
HP:0003712HP:0040266Proximal upper limb muscle hypertrophy2PRPS1 CL E G H563199014ORPHA13609462311850
HP:0003712HP:0008981Calf muscle hypertrophy2PRPS1 CL E G H563199014ORPHA13609462311850
HP:0003712HP:0040267Distal upper limb muscle hypertrophy2PRPS1 CL E G H563199014ORPHA13609462311850
HP:0003712HP:0030284Triangular tongue2SCN4A CL E G H6329168300Paramyotonia congenita of von Eulenburg168300C0221055OMIM1139110591603967
HP:0003712HP:0003733Thigh hypertrophy2SCN4A CL E G H6329168300Paramyotonia congenita of von Eulenburg168300C0221055OMIM1139110591603967
HP:0003712HP:0100875Hemimacroglossia2SCN4A CL E G H6329168300Paramyotonia congenita of von Eulenburg168300C0221055OMIM1139110591603967
HP:0003712HP:0040266Proximal upper limb muscle hypertrophy2SCN4A CL E G H6329168300Paramyotonia congenita of von Eulenburg168300C0221055OMIM1139110591603967
HP:0003712HP:0008981Calf muscle hypertrophy2SCN4A CL E G H6329168300Paramyotonia congenita of von Eulenburg168300C0221055OMIM1139110591603967
HP:0003712HP:0040267Distal upper limb muscle hypertrophy2SCN4A CL E G H6329168300Paramyotonia congenita of von Eulenburg168300C0221055OMIM1139110591603967
HP:0003712HP:0030284Triangular tongue2SCN4A CL E G H6329608390Potassium aggravated myotonia608390C0752355OMIM1139110591603967
HP:0003712HP:0003733Thigh hypertrophy2SCN4A CL E G H6329608390Potassium aggravated myotonia608390C0752355OMIM1139110591603967
HP:0003712HP:0100875Hemimacroglossia2SCN4A CL E G H6329608390Potassium aggravated myotonia608390C0752355OMIM1139110591603967
HP:0003712HP:0040266Proximal upper limb muscle hypertrophy2SCN4A CL E G H6329608390Potassium aggravated myotonia608390C0752355OMIM1139110591603967
HP:0003712HP:0008981Calf muscle hypertrophy2SCN4A CL E G H6329608390Potassium aggravated myotonia608390C0752355OMIM1139110591603967
HP:0003712HP:0040267Distal upper limb muscle hypertrophy2SCN4A CL E G H6329608390Potassium aggravated myotonia608390C0752355OMIM1139110591603967
HP:0003712HP:0030284Triangular tongue2SHOX CL E G H6473314795ORPHA131110853312865
HP:0003712HP:0003733Thigh hypertrophy2SHOX CL E G H6473314795ORPHA131110853312865
HP:0003712HP:0040266Proximal upper limb muscle hypertrophy2SHOX CL E G H6473314795ORPHA131110853312865
HP:0003712HP:0100875Hemimacroglossia2SHOX CL E G H6473314795ORPHA131110853312865
HP:0003712HP:0008981Calf muscle hypertrophy2SHOX CL E G H6473314795ORPHA131110853312865
HP:0003712HP:0040267Distal upper limb muscle hypertrophy2SHOX CL E G H6473314795ORPHA131110853312865
HP:0003712HP:0003733Thigh hypertrophy2SHOX CL E G H6473127300Leri Weill dyschondrosteosis127300C0265309OMIM131110853312865
HP:0003712HP:0030284Triangular tongue2SHOX CL E G H6473127300Leri Weill dyschondrosteosis127300C0265309OMIM131110853312865
HP:0003712HP:0040266Proximal upper limb muscle hypertrophy2SHOX CL E G H6473127300Leri Weill dyschondrosteosis127300C0265309OMIM131110853312865
HP:0003712HP:0100875Hemimacroglossia2SHOX CL E G H6473127300Leri Weill dyschondrosteosis127300C0265309OMIM131110853312865
HP:0003712HP:0040267Distal upper limb muscle hypertrophy2SHOX CL E G H6473127300Leri Weill dyschondrosteosis127300C0265309OMIM131110853312865
HP:0003712HP:0008981Calf muscle hypertrophy2SHOX CL E G H6473127300Leri Weill dyschondrosteosis127300C0265309OMIM131110853312865
HP:0003712HP:0030284Triangular tongue2SMAD4 CL E G H40892588ORPHA117396770600993
HP:0003712HP:0003733Thigh hypertrophy2SMAD4 CL E G H40892588ORPHA117396770600993
HP:0003712HP:0100875Hemimacroglossia2SMAD4 CL E G H40892588ORPHA117396770600993
HP:0003712HP:0040266Proximal upper limb muscle hypertrophy2SMAD4 CL E G H40892588ORPHA117396770600993
HP:0003712HP:0008981Calf muscle hypertrophy2SMAD4 CL E G H40892588ORPHA117396770600993
HP:0003712HP:0040267Distal upper limb muscle hypertrophy2SMAD4 CL E G H40892588ORPHA117396770600993
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003712HP:0003712Skeletal muscle hypertrophy0CLCN1 CL E G H1180160800Congenital myotonia, autosomal dominant form160800C2936781OMIM08702019118425
HP:0003712HP:0003712Skeletal muscle hypertrophy0CLCN1 CL E G H1180255700Congenital myotonia, autosomal recessive form255700C0751360OMIM08702019118425
HP:0003712HP:0003712Skeletal muscle hypertrophy0DNM2 CL E G H1785160150Myopathy, centronuclear, 1160150C1834558OMIM08852974602378
HP:0003712HP:0003712Skeletal muscle hypertrophy0SCN4A CL E G H6329682ORPHA0139110591603967
HP:0003712HP:0003712Skeletal muscle hypertrophy0SCN4A CL E G H632999736ORPHA0139110591603967
HP:0003712HP:0003712Skeletal muscle hypertrophy0SCN4A CL E G H632999734ORPHA0139110591603967
HP:0003712HP:0003712Skeletal muscle hypertrophy0SMAD4 CL E G H4089139210Myhre syndrome139210C0796081OMIM017396770600993
HP:0003712HP:0003720Generalized muscle hypertrophy1CLCN1 CL E G H1180160800Congenital myotonia, autosomal dominant form160800C2936781OMIM08702019118425
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1CLCN1 CL E G H1180160800Congenital myotonia, autosomal dominant form160800C2936781OMIM08702019118425
HP:0003712HP:0012895Scapular muscle hypertrophy1CLCN1 CL E G H1180160800Congenital myotonia, autosomal dominant form160800C2936781OMIM08702019118425
HP:0003712HP:0000158Macroglossia1CLCN1 CL E G H1180160800Congenital myotonia, autosomal dominant form160800C2936781OMIM08702019118425
HP:0003712HP:0012894Paraspinal muscle hypertrophy1CLCN1 CL E G H1180160800Congenital myotonia, autosomal dominant form160800C2936781OMIM08702019118425
HP:0003712HP:0012892Facial muscle hypertrophy1CLCN1 CL E G H1180160800Congenital myotonia, autosomal dominant form160800C2936781OMIM08702019118425
HP:0003712HP:0012893Neck muscle hypertrophy1CLCN1 CL E G H1180160800Congenital myotonia, autosomal dominant form160800C2936781OMIM08702019118425
HP:0003712HP:0040265Upper limb muscle hypertrophy1CLCN1 CL E G H1180160800Congenital myotonia, autosomal dominant form160800C2936781OMIM08702019118425
HP:0003712HP:0009042Marked muscular hypertrophy1CLCN1 CL E G H1180160800Congenital myotonia, autosomal dominant form160800C2936781OMIM08702019118425
HP:0003712HP:0003720Generalized muscle hypertrophy1CLCN1 CL E G H1180255700Congenital myotonia, autosomal recessive form255700C0751360OMIM08702019118425
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1CLCN1 CL E G H1180255700Congenital myotonia, autosomal recessive form255700C0751360OMIM08702019118425
HP:0003712HP:0012895Scapular muscle hypertrophy1CLCN1 CL E G H1180255700Congenital myotonia, autosomal recessive form255700C0751360OMIM08702019118425
HP:0003712HP:0012894Paraspinal muscle hypertrophy1CLCN1 CL E G H1180255700Congenital myotonia, autosomal recessive form255700C0751360OMIM08702019118425
HP:0003712HP:0000158Macroglossia1CLCN1 CL E G H1180255700Congenital myotonia, autosomal recessive form255700C0751360OMIM08702019118425
HP:0003712HP:0012893Neck muscle hypertrophy1CLCN1 CL E G H1180255700Congenital myotonia, autosomal recessive form255700C0751360OMIM08702019118425
HP:0003712HP:0040265Upper limb muscle hypertrophy1CLCN1 CL E G H1180255700Congenital myotonia, autosomal recessive form255700C0751360OMIM08702019118425
HP:0003712HP:0009042Marked muscular hypertrophy1CLCN1 CL E G H1180255700Congenital myotonia, autosomal recessive form255700C0751360OMIM08702019118425
HP:0003712HP:0012892Facial muscle hypertrophy1CLCN1 CL E G H1180255700Congenital myotonia, autosomal recessive form255700C0751360OMIM08702019118425
HP:0003712HP:0003720Generalized muscle hypertrophy1DNM2 CL E G H1785160150Myopathy, centronuclear, 1160150C1834558OMIM08852974602378
HP:0003712HP:0012895Scapular muscle hypertrophy1DNM2 CL E G H1785160150Myopathy, centronuclear, 1160150C1834558OMIM08852974602378
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1DNM2 CL E G H1785160150Myopathy, centronuclear, 1160150C1834558OMIM08852974602378
HP:0003712HP:0000158Macroglossia1DNM2 CL E G H1785160150Myopathy, centronuclear, 1160150C1834558OMIM08852974602378
HP:0003712HP:0012894Paraspinal muscle hypertrophy1DNM2 CL E G H1785160150Myopathy, centronuclear, 1160150C1834558OMIM08852974602378
HP:0003712HP:0012892Facial muscle hypertrophy1DNM2 CL E G H1785160150Myopathy, centronuclear, 1160150C1834558OMIM08852974602378
HP:0003712HP:0012893Neck muscle hypertrophy1DNM2 CL E G H1785160150Myopathy, centronuclear, 1160150C1834558OMIM08852974602378
HP:0003712HP:0040265Upper limb muscle hypertrophy1DNM2 CL E G H1785160150Myopathy, centronuclear, 1160150C1834558OMIM08852974602378
HP:0003712HP:0009042Marked muscular hypertrophy1DNM2 CL E G H1785160150Myopathy, centronuclear, 1160150C1834558OMIM08852974602378
HP:0003712HP:0003720Generalized muscle hypertrophy1SCN4A CL E G H6329682ORPHA0139110591603967
HP:0003712HP:0003720Generalized muscle hypertrophy1SCN4A CL E G H632999736ORPHA0139110591603967
HP:0003712HP:0003720Generalized muscle hypertrophy1SCN4A CL E G H632999734ORPHA0139110591603967
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1SCN4A CL E G H632999736ORPHA0139110591603967
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1SCN4A CL E G H632999734ORPHA0139110591603967
HP:0003712HP:0012895Scapular muscle hypertrophy1SCN4A CL E G H6329682ORPHA0139110591603967
HP:0003712HP:0012895Scapular muscle hypertrophy1SCN4A CL E G H632999736ORPHA0139110591603967
HP:0003712HP:0012895Scapular muscle hypertrophy1SCN4A CL E G H632999734ORPHA0139110591603967
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1SCN4A CL E G H6329682ORPHA0139110591603967
HP:0003712HP:0012894Paraspinal muscle hypertrophy1SCN4A CL E G H6329682ORPHA0139110591603967
HP:0003712HP:0012894Paraspinal muscle hypertrophy1SCN4A CL E G H632999736ORPHA0139110591603967
HP:0003712HP:0012894Paraspinal muscle hypertrophy1SCN4A CL E G H632999734ORPHA0139110591603967
HP:0003712HP:0000158Macroglossia1SCN4A CL E G H6329682ORPHA0139110591603967
HP:0003712HP:0000158Macroglossia1SCN4A CL E G H632999736ORPHA0139110591603967
HP:0003712HP:0000158Macroglossia1SCN4A CL E G H632999734ORPHA0139110591603967
HP:0003712HP:0040265Upper limb muscle hypertrophy1SCN4A CL E G H6329682ORPHA0139110591603967
HP:0003712HP:0012893Neck muscle hypertrophy1SCN4A CL E G H632999734ORPHA0139110591603967
HP:0003712HP:0040265Upper limb muscle hypertrophy1SCN4A CL E G H632999736ORPHA0139110591603967
HP:0003712HP:0009042Marked muscular hypertrophy1SCN4A CL E G H6329682ORPHA0139110591603967
HP:0003712HP:0040265Upper limb muscle hypertrophy1SCN4A CL E G H632999734ORPHA0139110591603967
HP:0003712HP:0009042Marked muscular hypertrophy1SCN4A CL E G H632999736ORPHA0139110591603967
HP:0003712HP:0009042Marked muscular hypertrophy1SCN4A CL E G H632999734ORPHA0139110591603967
HP:0003712HP:0012892Facial muscle hypertrophy1SCN4A CL E G H6329682ORPHA0139110591603967
HP:0003712HP:0012892Facial muscle hypertrophy1SCN4A CL E G H632999736ORPHA0139110591603967
HP:0003712HP:0012893Neck muscle hypertrophy1SCN4A CL E G H6329682ORPHA0139110591603967
HP:0003712HP:0012892Facial muscle hypertrophy1SCN4A CL E G H632999734ORPHA0139110591603967
HP:0003712HP:0012893Neck muscle hypertrophy1SCN4A CL E G H632999736ORPHA0139110591603967
HP:0003712HP:0003720Generalized muscle hypertrophy1SMAD4 CL E G H4089139210Myhre syndrome139210C0796081OMIM017396770600993
HP:0003712HP:0012895Scapular muscle hypertrophy1SMAD4 CL E G H4089139210Myhre syndrome139210C0796081OMIM017396770600993
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1SMAD4 CL E G H4089139210Myhre syndrome139210C0796081OMIM017396770600993
HP:0003712HP:0012894Paraspinal muscle hypertrophy1SMAD4 CL E G H4089139210Myhre syndrome139210C0796081OMIM017396770600993
HP:0003712HP:0000158Macroglossia1SMAD4 CL E G H4089139210Myhre syndrome139210C0796081OMIM017396770600993
HP:0003712HP:0009042Marked muscular hypertrophy1SMAD4 CL E G H4089139210Myhre syndrome139210C0796081OMIM017396770600993
HP:0003712HP:0012892Facial muscle hypertrophy1SMAD4 CL E G H4089139210Myhre syndrome139210C0796081OMIM017396770600993
HP:0003712HP:0012893Neck muscle hypertrophy1SMAD4 CL E G H4089139210Myhre syndrome139210C0796081OMIM017396770600993
HP:0003712HP:0040265Upper limb muscle hypertrophy1SMAD4 CL E G H4089139210Myhre syndrome139210C0796081OMIM017396770600993
HP:0003712HP:0030284Triangular tongue2CLCN1 CL E G H1180160800Congenital myotonia, autosomal dominant form160800C2936781OMIM08702019118425
HP:0003712HP:0003733Thigh hypertrophy2CLCN1 CL E G H1180160800Congenital myotonia, autosomal dominant form160800C2936781OMIM08702019118425
HP:0003712HP:0100875Hemimacroglossia2CLCN1 CL E G H1180160800Congenital myotonia, autosomal dominant form160800C2936781OMIM08702019118425
HP:0003712HP:0040266Proximal upper limb muscle hypertrophy2CLCN1 CL E G H1180160800Congenital myotonia, autosomal dominant form160800C2936781OMIM08702019118425
HP:0003712HP:0008981Calf muscle hypertrophy2CLCN1 CL E G H1180160800Congenital myotonia, autosomal dominant form160800C2936781OMIM08702019118425
HP:0003712HP:0040267Distal upper limb muscle hypertrophy2CLCN1 CL E G H1180160800Congenital myotonia, autosomal dominant form160800C2936781OMIM08702019118425
HP:0003712HP:0003733Thigh hypertrophy2CLCN1 CL E G H1180255700Congenital myotonia, autosomal recessive form255700C0751360OMIM08702019118425
HP:0003712HP:0030284Triangular tongue2CLCN1 CL E G H1180255700Congenital myotonia, autosomal recessive form255700C0751360OMIM08702019118425
HP:0003712HP:0040266Proximal upper limb muscle hypertrophy2CLCN1 CL E G H1180255700Congenital myotonia, autosomal recessive form255700C0751360OMIM08702019118425
HP:0003712HP:0100875Hemimacroglossia2CLCN1 CL E G H1180255700Congenital myotonia, autosomal recessive form255700C0751360OMIM08702019118425
HP:0003712HP:0008981Calf muscle hypertrophy2CLCN1 CL E G H1180255700Congenital myotonia, autosomal recessive form255700C0751360OMIM08702019118425
HP:0003712HP:0040267Distal upper limb muscle hypertrophy2CLCN1 CL E G H1180255700Congenital myotonia, autosomal recessive form255700C0751360OMIM08702019118425
HP:0003712HP:0030284Triangular tongue2DNM2 CL E G H1785160150Myopathy, centronuclear, 1160150C1834558OMIM08852974602378
HP:0003712HP:0003733Thigh hypertrophy2DNM2 CL E G H1785160150Myopathy, centronuclear, 1160150C1834558OMIM08852974602378
HP:0003712HP:0100875Hemimacroglossia2DNM2 CL E G H1785160150Myopathy, centronuclear, 1160150C1834558OMIM08852974602378
HP:0003712HP:0040266Proximal upper limb muscle hypertrophy2DNM2 CL E G H1785160150Myopathy, centronuclear, 1160150C1834558OMIM08852974602378
HP:0003712HP:0008981Calf muscle hypertrophy2DNM2 CL E G H1785160150Myopathy, centronuclear, 1160150C1834558OMIM08852974602378
HP:0003712HP:0040267Distal upper limb muscle hypertrophy2DNM2 CL E G H1785160150Myopathy, centronuclear, 1160150C1834558OMIM08852974602378
HP:0003712HP:0030284Triangular tongue2SCN4A CL E G H632999734ORPHA0139110591603967
HP:0003712HP:0003733Thigh hypertrophy2SCN4A CL E G H632999736ORPHA0139110591603967
HP:0003712HP:0003733Thigh hypertrophy2SCN4A CL E G H632999734ORPHA0139110591603967
HP:0003712HP:0030284Triangular tongue2SCN4A CL E G H6329682ORPHA0139110591603967
HP:0003712HP:0030284Triangular tongue2SCN4A CL E G H632999736ORPHA0139110591603967
HP:0003712HP:0003733Thigh hypertrophy2SCN4A CL E G H6329682ORPHA0139110591603967
HP:0003712HP:0040266Proximal upper limb muscle hypertrophy2SCN4A CL E G H6329682ORPHA0139110591603967
HP:0003712HP:0040266Proximal upper limb muscle hypertrophy2SCN4A CL E G H632999736ORPHA0139110591603967
HP:0003712HP:0040266Proximal upper limb muscle hypertrophy2SCN4A CL E G H632999734ORPHA0139110591603967
HP:0003712HP:0100875Hemimacroglossia2SCN4A CL E G H6329682ORPHA0139110591603967
HP:0003712HP:0100875Hemimacroglossia2SCN4A CL E G H632999736ORPHA0139110591603967
HP:0003712HP:0100875Hemimacroglossia2SCN4A CL E G H632999734ORPHA0139110591603967
HP:0003712HP:0008981Calf muscle hypertrophy2SCN4A CL E G H632999736ORPHA0139110591603967
HP:0003712HP:0040267Distal upper limb muscle hypertrophy2SCN4A CL E G H6329682ORPHA0139110591603967
HP:0003712HP:0008981Calf muscle hypertrophy2SCN4A CL E G H632999734ORPHA0139110591603967
HP:0003712HP:0040267Distal upper limb muscle hypertrophy2SCN4A CL E G H632999736ORPHA0139110591603967
HP:0003712HP:0040267Distal upper limb muscle hypertrophy2SCN4A CL E G H632999734ORPHA0139110591603967
HP:0003712HP:0008981Calf muscle hypertrophy2SCN4A CL E G H6329682ORPHA0139110591603967
HP:0003712HP:0030284Triangular tongue2SMAD4 CL E G H4089139210Myhre syndrome139210C0796081OMIM017396770600993
HP:0003712HP:0003733Thigh hypertrophy2SMAD4 CL E G H4089139210Myhre syndrome139210C0796081OMIM017396770600993
HP:0003712HP:0040266Proximal upper limb muscle hypertrophy2SMAD4 CL E G H4089139210Myhre syndrome139210C0796081OMIM017396770600993
HP:0003712HP:0100875Hemimacroglossia2SMAD4 CL E G H4089139210Myhre syndrome139210C0796081OMIM017396770600993
HP:0003712HP:0040267Distal upper limb muscle hypertrophy2SMAD4 CL E G H4089139210Myhre syndrome139210C0796081OMIM017396770600993
HP:0003712HP:0008981Calf muscle hypertrophy2SMAD4 CL E G H4089139210Myhre syndrome139210C0796081OMIM017396770600993


Genes (165) :ABCC9 ACTA1 ACTB AGA AGPAT2 AIP AKT1 AMPD2 ANO5 AR ARID1A ARSB ATP6V1B2 ATRX BAZ1B BIN1 BSCL2 CAPN3 CAV1 CAV3 CAVIN1 CCDC47 CDCA7 CDKN1C CHCHD10 CIDEC CIZ1 CLCN1 CLIP2 CRPPA CUL4B DMD DNM2 DNMT3B DPM3 DUOX2 DUOXA2 DVL1 DVL3 EHMT1 ELN FDX2 FHL1 FIBP FKRP FKTN FOS FOXE1 FOXG1 FRG1 FTO FUCA1 GAA GATA1 GNPTAB GPC3 GPC4 GPR101 GTF2I GTF2IRD1 H19 H19-ICR HACD1 HELLS HEXB HRAS HSPG2 HYMAI IDS IDUA IFT140 IGF2 INPP5E ITGA7 IYD KCNA1 KCNH1 KCNQ1 KCNQ1OT1 KLLN LAMA2 LARGE1 LIMK1 LIMS2 LIPE LMNA LTBP4 MAN2B1 MAP3K20 MED13L MPZ MSTN MTMR14 MYF6 MYL2 NKX2-1 NKX2-5 PAX8 PEX1 PIGS PIGW PIK3CA PLAGL1 PLEC PLIN1 PMP22 POMGNT1 POMGNT2 POMT1 POMT2 POP1 POU1F1 PPARG PQBP1 PRKAG2 PRPS1 PSMB8 PTEN RFC2 RNF125 ROR2 RYR1 SCN4A SDHB SDHC SDHD SEC23B SELENON SETBP1 SGCA SGCB SGCD SGCG SHOX SLC25A1 SLC26A4 SLC5A5 SMAD4 SMARCA4 SMARCB1 SNIP1 SNX14 SRY TBCK TBL2 TCAP TG THRA THRB TPM2 TPM3 TPO TRAF3IP2 TRHR TRMU TRNE TRNW TSHB TSHR TTN UBE3A VPS33A WNT5A ZBTB24 ZEB2

Diseases (155) :528 606072 613327 160800 255700 160150 611588 800 255800 2348 151660 101082 614160 613877 613157 613158 99014 99736 99734 682 168300 608390 314795 127300 2588 139210 965 79107 93 208400 963 201 615809 614607 253200 3473 616455 847 301040 309580 904 618268 2268 130650 435651 420492 352479 616052 300354 242860 95716 180700 96147 610253 251900 300280 617107 606612 607155 95713 261144 612938 230000 232300 190685 252500 373 312870 268800 3071 218040 96191 309900 93473 266920 213300 258 608840 435660 280365 248500 616789 95712 95720 218700 214100 618143 616025 613155 613150 613156 617396 613038 79083 93947 261740 2615 256040 65285 616260 268310 684 99735 798 269150 353 274400 614609 614608 614501 616354 1772 616900 97927 614450 615527 99832 254864 90674 275100 90673 105830 617303 235730 2020 206549 611307 613319 313200 169189 267 614321 615048 98896 263494 34515 253800 158900 37612 618138 616827 79474 617760 254361 280356 101081 618135 86812 608099 119 601287 618197 601954 178464 611705
 

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