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 3ORPHA1205325603100
HP:0003712HP:0003712Skeletal muscle hypertrophy0AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1203325603100
HP:0003712HP:0003712Skeletal muscle hypertrophy0BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA137315832606158
HP:0003712HP:0003712Skeletal muscle hypertrophy0BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA133015832606158
HP:0003712HP:0003712Skeletal muscle hypertrophy0CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA1851527601047
HP:0003712HP:0003712Skeletal muscle hypertrophy0CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA1811527601047
HP:0003712HP:0003712Skeletal muscle hypertrophy0CAV3 CL E G H859606072Rippling muscle disease606072C1853698OMIM13351529601253
HP:0003712HP:0003712Skeletal muscle hypertrophy0CAV3 CL E G H859606072Rippling muscle disease606072C1853698OMIM13541529601253
HP:0003712HP:0003712Skeletal muscle hypertrophy0CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA11109688603198
HP:0003712HP:0003712Skeletal muscle hypertrophy0CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA11099688603198
HP:0003712HP:0003712Skeletal muscle hypertrophy0CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11099688603198
HP:0003712HP:0003712Skeletal muscle hypertrophy0CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11109688603198
HP:0003712HP:0003712Skeletal muscle hypertrophy0FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM15993622607440
HP:0003712HP:0003712Skeletal muscle hypertrophy0FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM16793622607440
HP:0003712HP:0003712Skeletal muscle hypertrophy0FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA1293796164810
HP:0003712HP:0003712Skeletal muscle hypertrophy0HSPG2 CL E G H3339800ORPHA116005273142461
HP:0003712HP:0003712Skeletal muscle hypertrophy0HSPG2 CL E G H3339800ORPHA113275273142461
HP:0003712HP:0003712Skeletal muscle hypertrophy0HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM113275273142461
HP:0003712HP:0003712Skeletal muscle hypertrophy0HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM116005273142461
HP:0003712HP:0003712Skeletal muscle hypertrophy0LMNA CL E G H40002348ORPHA114866636150330
HP:0003712HP:0003712Skeletal muscle hypertrophy0LMNA CL E G H40002348ORPHA113476636150330
HP:0003712HP:0003712Skeletal muscle hypertrophy0LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM113476636150330
HP:0003712HP:0003712Skeletal muscle hypertrophy0LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM114866636150330
HP:0003712HP:0003712Skeletal muscle hypertrophy0MPZ CL E G H4359101082ORPHA15227225159440
HP:0003712HP:0003712Skeletal muscle hypertrophy0MPZ CL E G H4359101082ORPHA14937225159440
HP:0003712HP:0003712Skeletal muscle hypertrophy0MSTN CL E G H2660614160Muscle hypertrophy614160C0236033OMIM1834223601788
HP:0003712HP:0003712Skeletal muscle hypertrophy0PLIN1 CL E G H5346613877Familial partial lipodystrophy 4613877C3151268OMIM11029076170290
HP:0003712HP:0003712Skeletal muscle hypertrophy0PLIN1 CL E G H5346613877Familial partial lipodystrophy 4613877C3151268OMIM1949076170290
HP:0003712HP:0003712Skeletal muscle hypertrophy0POMGNT1 CL E G H55624613157Limb-girdle muscular dystrophy-dystroglycanopathy, type C3613157C3150417OMIM166219139606822
HP:0003712HP:0003712Skeletal muscle hypertrophy0POMGNT1 CL E G H55624613157Limb-girdle muscular dystrophy-dystroglycanopathy, type C3613157C3150417OMIM179719139606822
HP:0003712HP:0003712Skeletal muscle hypertrophy0POMT2 CL E G H29954613158Limb-girdle muscular dystrophy-dystroglycanopathy, type C2613158C3150418OMIM160419743607439
HP:0003712HP:0003712Skeletal muscle hypertrophy0POMT2 CL E G H29954613158Limb-girdle muscular dystrophy-dystroglycanopathy, type C2613158C3150418OMIM169119743607439
HP:0003712HP:0003712Skeletal muscle hypertrophy0PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA11249236601487
HP:0003712HP:0003712Skeletal muscle hypertrophy0PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA11089236601487
HP:0003712HP:0003712Skeletal muscle hypertrophy0PRPS1 CL E G H563199014ORPHA13219462311850
HP:0003712HP:0003712Skeletal muscle hypertrophy0PRPS1 CL E G H563199014ORPHA13039462311850
HP:0003712HP:0003712Skeletal muscle hypertrophy0SCN4A CL E G H6329168300Paramyotonia congenita of von Eulenburg168300C0221055OMIM1108110591603967
HP:0003712HP:0003712Skeletal muscle hypertrophy0SCN4A CL E G H6329168300Paramyotonia congenita of von Eulenburg168300C0221055OMIM1124110591603967
HP:0003712HP:0003712Skeletal muscle hypertrophy0SCN4A CL E G H6329608390Potassium aggravated myotonia608390C0752355OMIM1108110591603967
HP:0003712HP:0003712Skeletal muscle hypertrophy0SCN4A CL E G H6329608390Potassium aggravated myotonia608390C0752355OMIM1124110591603967
HP:0003712HP:0003712Skeletal muscle hypertrophy0SHOX CL E G H6473314795ORPHA126910853312865
HP:0003712HP:0003712Skeletal muscle hypertrophy0SHOX CL E G H6473314795ORPHA126610853312865
HP:0003712HP:0003712Skeletal muscle hypertrophy0SHOX CL E G H6473127300Leri Weill dyschondrosteosis127300C0265309OMIM126610853312865
HP:0003712HP:0003712Skeletal muscle hypertrophy0SHOX CL E G H6473127300Leri Weill dyschondrosteosis127300C0265309OMIM126910853312865
HP:0003712HP:0003712Skeletal muscle hypertrophy0SMAD4 CL E G H40892588ORPHA114956770600993
HP:0003712HP:0003712Skeletal muscle hypertrophy0SMAD4 CL E G H40892588ORPHA113596770600993
HP:0003712HP:0000158Macroglossia1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1205325603100
HP:0003712HP:0003720Generalized muscle hypertrophy1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1205325603100
HP:0003712HP:0012894Paraspinal muscle hypertrophy1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1205325603100
HP:0003712HP:0000158Macroglossia1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1203325603100
HP:0003712HP:0003720Generalized muscle hypertrophy1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1203325603100
HP:0003712HP:0012894Paraspinal muscle hypertrophy1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1203325603100
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1205325603100
HP:0003712HP:0040265Upper limb muscle hypertrophy1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1205325603100
HP:0003712HP:0012892Facial muscle hypertrophy1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1205325603100
HP:0003712HP:0009042Marked muscular hypertrophy1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1205325603100
HP:0003712HP:0012893Neck muscle hypertrophy1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1205325603100
HP:0003712HP:0012895Scapular muscle hypertrophy1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1205325603100
HP:0003712HP:0040265Upper limb muscle hypertrophy1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1203325603100
HP:0003712HP:0012892Facial muscle hypertrophy1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1203325603100
HP:0003712HP:0009042Marked muscular hypertrophy1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1203325603100
HP:0003712HP:0012893Neck muscle hypertrophy1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1203325603100
HP:0003712HP:0012895Scapular muscle hypertrophy1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1203325603100
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1203325603100
HP:0003712HP:0000158Macroglossia1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA137315832606158
HP:0003712HP:0003720Generalized muscle hypertrophy1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA137315832606158
HP:0003712HP:0012894Paraspinal muscle hypertrophy1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA137315832606158
HP:0003712HP:0000158Macroglossia1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA133015832606158
HP:0003712HP:0003720Generalized muscle hypertrophy1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA133015832606158
HP:0003712HP:0012894Paraspinal muscle hypertrophy1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA133015832606158
HP:0003712HP:0012892Facial muscle hypertrophy1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA137315832606158
HP:0003712HP:0009042Marked muscular hypertrophy1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA137315832606158
HP:0003712HP:0012893Neck muscle hypertrophy1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA137315832606158
HP:0003712HP:0012895Scapular muscle hypertrophy1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA137315832606158
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA137315832606158
HP:0003712HP:0040265Upper limb muscle hypertrophy1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA137315832606158
HP:0003712HP:0012892Facial muscle hypertrophy1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA133015832606158
HP:0003712HP:0009042Marked muscular hypertrophy1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA133015832606158
HP:0003712HP:0012893Neck muscle hypertrophy1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA133015832606158
HP:0003712HP:0012895Scapular muscle hypertrophy1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA133015832606158
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA133015832606158
HP:0003712HP:0040265Upper limb muscle hypertrophy1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA133015832606158
HP:0003712HP:0012894Paraspinal muscle hypertrophy1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA1851527601047
HP:0003712HP:0000158Macroglossia1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA1851527601047
HP:0003712HP:0003720Generalized muscle hypertrophy1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA1851527601047
HP:0003712HP:0012894Paraspinal muscle hypertrophy1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA1811527601047
HP:0003712HP:0000158Macroglossia1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA1811527601047
HP:0003712HP:0003720Generalized muscle hypertrophy1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA1811527601047
HP:0003712HP:0009042Marked muscular hypertrophy1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA1851527601047
HP:0003712HP:0012893Neck muscle hypertrophy1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA1851527601047
HP:0003712HP:0012895Scapular muscle hypertrophy1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA1851527601047
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA1851527601047
HP:0003712HP:0040265Upper limb muscle hypertrophy1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA1851527601047
HP:0003712HP:0012892Facial muscle hypertrophy1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA1851527601047
HP:0003712HP:0009042Marked muscular hypertrophy1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA1811527601047
HP:0003712HP:0012893Neck muscle hypertrophy1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA1811527601047
HP:0003712HP:0012895Scapular muscle hypertrophy1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA1811527601047
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA1811527601047
HP:0003712HP:0040265Upper limb muscle hypertrophy1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA1811527601047
HP:0003712HP:0012892Facial muscle hypertrophy1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA1811527601047
HP:0003712HP:0000158Macroglossia1CAV3 CL E G H859606072Rippling muscle disease606072C1853698OMIM13351529601253
HP:0003712HP:0003720Generalized muscle hypertrophy1CAV3 CL E G H859606072Rippling muscle disease606072C1853698OMIM13351529601253
HP:0003712HP:0012894Paraspinal muscle hypertrophy1CAV3 CL E G H859606072Rippling muscle disease606072C1853698OMIM13351529601253
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1CAV3 CL E G H859606072Rippling muscle disease606072C1853698OMIM13541529601253
HP:0003712HP:0040265Upper limb muscle hypertrophy1CAV3 CL E G H859606072Rippling muscle disease606072C1853698OMIM13541529601253
HP:0003712HP:0012892Facial muscle hypertrophy1CAV3 CL E G H859606072Rippling muscle disease606072C1853698OMIM13541529601253
HP:0003712HP:0009042Marked muscular hypertrophy1CAV3 CL E G H859606072Rippling muscle disease606072C1853698OMIM13541529601253
HP:0003712HP:0012893Neck muscle hypertrophy1CAV3 CL E G H859606072Rippling muscle disease606072C1853698OMIM13541529601253
HP:0003712HP:0012895Scapular muscle hypertrophy1CAV3 CL E G H859606072Rippling muscle disease606072C1853698OMIM13541529601253
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1CAV3 CL E G H859606072Rippling muscle disease606072C1853698OMIM13351529601253
HP:0003712HP:0040265Upper limb muscle hypertrophy1CAV3 CL E G H859606072Rippling muscle disease606072C1853698OMIM13351529601253
HP:0003712HP:0012892Facial muscle hypertrophy1CAV3 CL E G H859606072Rippling muscle disease606072C1853698OMIM13351529601253
HP:0003712HP:0009042Marked muscular hypertrophy1CAV3 CL E G H859606072Rippling muscle disease606072C1853698OMIM13351529601253
HP:0003712HP:0012893Neck muscle hypertrophy1CAV3 CL E G H859606072Rippling muscle disease606072C1853698OMIM13351529601253
HP:0003712HP:0012895Scapular muscle hypertrophy1CAV3 CL E G H859606072Rippling muscle disease606072C1853698OMIM13351529601253
HP:0003712HP:0000158Macroglossia1CAV3 CL E G H859606072Rippling muscle disease606072C1853698OMIM13541529601253
HP:0003712HP:0003720Generalized muscle hypertrophy1CAV3 CL E G H859606072Rippling muscle disease606072C1853698OMIM13541529601253
HP:0003712HP:0012894Paraspinal muscle hypertrophy1CAV3 CL E G H859606072Rippling muscle disease606072C1853698OMIM13541529601253
HP:0003712HP:0000158Macroglossia1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA11109688603198
HP:0003712HP:0003720Generalized muscle hypertrophy1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA11109688603198
HP:0003712HP:0012894Paraspinal muscle hypertrophy1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA11109688603198
HP:0003712HP:0000158Macroglossia1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA11099688603198
HP:0003712HP:0003720Generalized muscle hypertrophy1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA11099688603198
HP:0003712HP:0012894Paraspinal muscle hypertrophy1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA11099688603198
HP:0003712HP:0012895Scapular muscle hypertrophy1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA11109688603198
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA11109688603198
HP:0003712HP:0040265Upper limb muscle hypertrophy1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA11109688603198
HP:0003712HP:0012892Facial muscle hypertrophy1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA11109688603198
HP:0003712HP:0009042Marked muscular hypertrophy1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA11109688603198
HP:0003712HP:0012893Neck muscle hypertrophy1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA11109688603198
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA11099688603198
HP:0003712HP:0040265Upper limb muscle hypertrophy1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA11099688603198
HP:0003712HP:0012892Facial muscle hypertrophy1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA11099688603198
HP:0003712HP:0009042Marked muscular hypertrophy1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA11099688603198
HP:0003712HP:0012893Neck muscle hypertrophy1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA11099688603198
HP:0003712HP:0012895Scapular muscle hypertrophy1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA11099688603198
HP:0003712HP:0000158Macroglossia1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11099688603198
HP:0003712HP:0003720Generalized muscle hypertrophy1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11099688603198
HP:0003712HP:0012894Paraspinal muscle hypertrophy1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11099688603198
HP:0003712HP:0012892Facial muscle hypertrophy1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11109688603198
HP:0003712HP:0009042Marked muscular hypertrophy1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11109688603198
HP:0003712HP:0012893Neck muscle hypertrophy1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11109688603198
HP:0003712HP:0012895Scapular muscle hypertrophy1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11109688603198
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11109688603198
HP:0003712HP:0040265Upper limb muscle hypertrophy1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11109688603198
HP:0003712HP:0012892Facial muscle hypertrophy1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11099688603198
HP:0003712HP:0009042Marked muscular hypertrophy1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11099688603198
HP:0003712HP:0012893Neck muscle hypertrophy1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11099688603198
HP:0003712HP:0012895Scapular muscle hypertrophy1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11099688603198
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11099688603198
HP:0003712HP:0040265Upper limb muscle hypertrophy1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11099688603198
HP:0003712HP:0000158Macroglossia1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11109688603198
HP:0003712HP:0003720Generalized muscle hypertrophy1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11109688603198
HP:0003712HP:0012894Paraspinal muscle hypertrophy1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11109688603198
HP:0003712HP:0003720Generalized muscle hypertrophy1FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM15993622607440
HP:0003712HP:0012894Paraspinal muscle hypertrophy1FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM15993622607440
HP:0003712HP:0000158Macroglossia1FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM15993622607440
HP:0003712HP:0009042Marked muscular hypertrophy1FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM16793622607440
HP:0003712HP:0012893Neck muscle hypertrophy1FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM16793622607440
HP:0003712HP:0012895Scapular muscle hypertrophy1FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM16793622607440
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM16793622607440
HP:0003712HP:0040265Upper limb muscle hypertrophy1FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM16793622607440
HP:0003712HP:0012892Facial muscle hypertrophy1FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM16793622607440
HP:0003712HP:0009042Marked muscular hypertrophy1FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM15993622607440
HP:0003712HP:0012893Neck muscle hypertrophy1FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM15993622607440
HP:0003712HP:0012895Scapular muscle hypertrophy1FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM15993622607440
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM15993622607440
HP:0003712HP:0040265Upper limb muscle hypertrophy1FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM15993622607440
HP:0003712HP:0012892Facial muscle hypertrophy1FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM15993622607440
HP:0003712HP:0000158Macroglossia1FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM16793622607440
HP:0003712HP:0003720Generalized muscle hypertrophy1FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM16793622607440
HP:0003712HP:0012894Paraspinal muscle hypertrophy1FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM16793622607440
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:0000158Macroglossia1FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA1293796164810
HP:0003712HP:0012894Paraspinal muscle hypertrophy1FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA1293796164810
HP:0003712HP:0012892Facial muscle hypertrophy1FOS 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:0000158Macroglossia1HSPG2 CL E G H3339800ORPHA116005273142461
HP:0003712HP:0003720Generalized muscle hypertrophy1HSPG2 CL E G H3339800ORPHA116005273142461
HP:0003712HP:0012894Paraspinal muscle hypertrophy1HSPG2 CL E G H3339800ORPHA116005273142461
HP:0003712HP:0000158Macroglossia1HSPG2 CL E G H3339800ORPHA113275273142461
HP:0003712HP:0003720Generalized muscle hypertrophy1HSPG2 CL E G H3339800ORPHA113275273142461
HP:0003712HP:0012894Paraspinal muscle hypertrophy1HSPG2 CL E G H3339800ORPHA113275273142461
HP:0003712HP:0012895Scapular muscle hypertrophy1HSPG2 CL E G H3339800ORPHA116005273142461
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1HSPG2 CL E G H3339800ORPHA116005273142461
HP:0003712HP:0040265Upper limb muscle hypertrophy1HSPG2 CL E G H3339800ORPHA116005273142461
HP:0003712HP:0012892Facial muscle hypertrophy1HSPG2 CL E G H3339800ORPHA116005273142461
HP:0003712HP:0009042Marked muscular hypertrophy1HSPG2 CL E G H3339800ORPHA116005273142461
HP:0003712HP:0012893Neck muscle hypertrophy1HSPG2 CL E G H3339800ORPHA116005273142461
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1HSPG2 CL E G H3339800ORPHA113275273142461
HP:0003712HP:0040265Upper limb muscle hypertrophy1HSPG2 CL E G H3339800ORPHA113275273142461
HP:0003712HP:0012892Facial muscle hypertrophy1HSPG2 CL E G H3339800ORPHA113275273142461
HP:0003712HP:0009042Marked muscular hypertrophy1HSPG2 CL E G H3339800ORPHA113275273142461
HP:0003712HP:0012893Neck muscle hypertrophy1HSPG2 CL E G H3339800ORPHA113275273142461
HP:0003712HP:0012895Scapular muscle hypertrophy1HSPG2 CL E G H3339800ORPHA113275273142461
HP:0003712HP:0012894Paraspinal muscle hypertrophy1HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM113275273142461
HP:0003712HP:0000158Macroglossia1HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM113275273142461
HP:0003712HP:0003720Generalized muscle hypertrophy1HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM113275273142461
HP:0003712HP:0009042Marked muscular hypertrophy1HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM116005273142461
HP:0003712HP:0012893Neck muscle hypertrophy1HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM116005273142461
HP:0003712HP:0012895Scapular muscle hypertrophy1HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM116005273142461
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM116005273142461
HP:0003712HP:0040265Upper limb muscle hypertrophy1HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM116005273142461
HP:0003712HP:0012892Facial muscle hypertrophy1HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM116005273142461
HP:0003712HP:0012893Neck muscle hypertrophy1HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM113275273142461
HP:0003712HP:0012895Scapular muscle hypertrophy1HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM113275273142461
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM113275273142461
HP:0003712HP:0040265Upper limb muscle hypertrophy1HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM113275273142461
HP:0003712HP:0012892Facial muscle hypertrophy1HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM113275273142461
HP:0003712HP:0009042Marked muscular hypertrophy1HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM113275273142461
HP:0003712HP:0012894Paraspinal muscle hypertrophy1HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM116005273142461
HP:0003712HP:0000158Macroglossia1HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM116005273142461
HP:0003712HP:0003720Generalized muscle hypertrophy1HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM116005273142461
HP:0003712HP:0000158Macroglossia1LMNA CL E G H40002348ORPHA114866636150330
HP:0003712HP:0003720Generalized muscle hypertrophy1LMNA CL E G H40002348ORPHA114866636150330
HP:0003712HP:0012894Paraspinal muscle hypertrophy1LMNA CL E G H40002348ORPHA114866636150330
HP:0003712HP:0000158Macroglossia1LMNA CL E G H40002348ORPHA113476636150330
HP:0003712HP:0003720Generalized muscle hypertrophy1LMNA CL E G H40002348ORPHA113476636150330
HP:0003712HP:0012894Paraspinal muscle hypertrophy1LMNA CL E G H40002348ORPHA113476636150330
HP:0003712HP:0040265Upper limb muscle hypertrophy1LMNA CL E G H40002348ORPHA114866636150330
HP:0003712HP:0012892Facial muscle hypertrophy1LMNA CL E G H40002348ORPHA114866636150330
HP:0003712HP:0009042Marked muscular hypertrophy1LMNA CL E G H40002348ORPHA114866636150330
HP:0003712HP:0012893Neck muscle hypertrophy1LMNA CL E G H40002348ORPHA114866636150330
HP:0003712HP:0012895Scapular muscle hypertrophy1LMNA CL E G H40002348ORPHA114866636150330
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1LMNA CL E G H40002348ORPHA114866636150330
HP:0003712HP:0040265Upper limb muscle hypertrophy1LMNA CL E G H40002348ORPHA113476636150330
HP:0003712HP:0012892Facial muscle hypertrophy1LMNA CL E G H40002348ORPHA113476636150330
HP:0003712HP:0009042Marked muscular hypertrophy1LMNA CL E G H40002348ORPHA113476636150330
HP:0003712HP:0012893Neck muscle hypertrophy1LMNA CL E G H40002348ORPHA113476636150330
HP:0003712HP:0012895Scapular muscle hypertrophy1LMNA CL E G H40002348ORPHA113476636150330
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1LMNA CL E G H40002348ORPHA113476636150330
HP:0003712HP:0000158Macroglossia1LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM113476636150330
HP:0003712HP:0003720Generalized muscle hypertrophy1LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM113476636150330
HP:0003712HP:0012894Paraspinal muscle hypertrophy1LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM113476636150330
HP:0003712HP:0040265Upper limb muscle hypertrophy1LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM114866636150330
HP:0003712HP:0012892Facial muscle hypertrophy1LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM114866636150330
HP:0003712HP:0009042Marked muscular hypertrophy1LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM114866636150330
HP:0003712HP:0012893Neck muscle hypertrophy1LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM114866636150330
HP:0003712HP:0012895Scapular muscle hypertrophy1LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM114866636150330
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM114866636150330
HP:0003712HP:0012892Facial muscle hypertrophy1LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM113476636150330
HP:0003712HP:0009042Marked muscular hypertrophy1LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM113476636150330
HP:0003712HP:0012893Neck muscle hypertrophy1LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM113476636150330
HP:0003712HP:0012895Scapular muscle hypertrophy1LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM113476636150330
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM113476636150330
HP:0003712HP:0040265Upper limb muscle hypertrophy1LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM113476636150330
HP:0003712HP:0000158Macroglossia1LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM114866636150330
HP:0003712HP:0003720Generalized muscle hypertrophy1LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM114866636150330
HP:0003712HP:0012894Paraspinal muscle hypertrophy1LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM114866636150330
HP:0003712HP:0003720Generalized muscle hypertrophy1MPZ CL E G H4359101082ORPHA15227225159440
HP:0003712HP:0012894Paraspinal muscle hypertrophy1MPZ CL E G H4359101082ORPHA15227225159440
HP:0003712HP:0000158Macroglossia1MPZ CL E G H4359101082ORPHA15227225159440
HP:0003712HP:0012894Paraspinal muscle hypertrophy1MPZ CL E G H4359101082ORPHA14937225159440
HP:0003712HP:0000158Macroglossia1MPZ CL E G H4359101082ORPHA14937225159440
HP:0003712HP:0003720Generalized muscle hypertrophy1MPZ CL E G H4359101082ORPHA14937225159440
HP:0003712HP:0009042Marked muscular hypertrophy1MPZ CL E G H4359101082ORPHA15227225159440
HP:0003712HP:0012893Neck muscle hypertrophy1MPZ CL E G H4359101082ORPHA15227225159440
HP:0003712HP:0012895Scapular muscle hypertrophy1MPZ CL E G H4359101082ORPHA15227225159440
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1MPZ CL E G H4359101082ORPHA15227225159440
HP:0003712HP:0040265Upper limb muscle hypertrophy1MPZ CL E G H4359101082ORPHA15227225159440
HP:0003712HP:0012892Facial muscle hypertrophy1MPZ CL E G H4359101082ORPHA15227225159440
HP:0003712HP:0009042Marked muscular hypertrophy1MPZ CL E G H4359101082ORPHA14937225159440
HP:0003712HP:0012893Neck muscle hypertrophy1MPZ CL E G H4359101082ORPHA14937225159440
HP:0003712HP:0012895Scapular muscle hypertrophy1MPZ CL E G H4359101082ORPHA14937225159440
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1MPZ CL E G H4359101082ORPHA14937225159440
HP:0003712HP:0040265Upper limb muscle hypertrophy1MPZ CL E G H4359101082ORPHA14937225159440
HP:0003712HP:0012892Facial muscle hypertrophy1MPZ CL E G H4359101082ORPHA14937225159440
HP:0003712HP:0003720Generalized muscle hypertrophy1MSTN CL E G H2660614160Muscle hypertrophy614160C0236033OMIM1834223601788
HP:0003712HP:0012895Scapular muscle hypertrophy1MSTN CL E G H2660614160Muscle hypertrophy614160C0236033OMIM1834223601788
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1MSTN CL E G H2660614160Muscle hypertrophy614160C0236033OMIM1834223601788
HP:0003712HP:0012894Paraspinal muscle hypertrophy1MSTN CL E G H2660614160Muscle hypertrophy614160C0236033OMIM1834223601788
HP:0003712HP:0000158Macroglossia1MSTN CL E G H2660614160Muscle hypertrophy614160C0236033OMIM1834223601788
HP:0003712HP:0009042Marked muscular hypertrophy1MSTN CL E G H2660614160Muscle hypertrophy614160C0236033OMIM1834223601788
HP:0003712HP:0012892Facial muscle hypertrophy1MSTN CL E G H2660614160Muscle hypertrophy614160C0236033OMIM1834223601788
HP:0003712HP:0012893Neck muscle hypertrophy1MSTN CL E G H2660614160Muscle hypertrophy614160C0236033OMIM1834223601788
HP:0003712HP:0040265Upper limb muscle hypertrophy1MSTN CL E G H2660614160Muscle hypertrophy614160C0236033OMIM1834223601788
HP:0003712HP:0012894Paraspinal muscle hypertrophy1PLIN1 CL E G H5346613877Familial partial lipodystrophy 4613877C3151268OMIM11029076170290
HP:0003712HP:0000158Macroglossia1PLIN1 CL E G H5346613877Familial partial lipodystrophy 4613877C3151268OMIM1949076170290
HP:0003712HP:0003720Generalized muscle hypertrophy1PLIN1 CL E G H5346613877Familial partial lipodystrophy 4613877C3151268OMIM1949076170290
HP:0003712HP:0012894Paraspinal muscle hypertrophy1PLIN1 CL E G H5346613877Familial partial lipodystrophy 4613877C3151268OMIM1949076170290
HP:0003712HP:0012893Neck muscle hypertrophy1PLIN1 CL E G H5346613877Familial partial lipodystrophy 4613877C3151268OMIM11029076170290
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1PLIN1 CL E G H5346613877Familial partial lipodystrophy 4613877C3151268OMIM11029076170290
HP:0003712HP:0040265Upper limb muscle hypertrophy1PLIN1 CL E G H5346613877Familial partial lipodystrophy 4613877C3151268OMIM11029076170290
HP:0003712HP:0012892Facial muscle hypertrophy1PLIN1 CL E G H5346613877Familial partial lipodystrophy 4613877C3151268OMIM11029076170290
HP:0003712HP:0009042Marked muscular hypertrophy1PLIN1 CL E G H5346613877Familial partial lipodystrophy 4613877C3151268OMIM11029076170290
HP:0003712HP:0012895Scapular muscle hypertrophy1PLIN1 CL E G H5346613877Familial partial lipodystrophy 4613877C3151268OMIM11029076170290
HP:0003712HP:0009042Marked muscular hypertrophy1PLIN1 CL E G H5346613877Familial partial lipodystrophy 4613877C3151268OMIM1949076170290
HP:0003712HP:0012893Neck muscle hypertrophy1PLIN1 CL E G H5346613877Familial partial lipodystrophy 4613877C3151268OMIM1949076170290
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1PLIN1 CL E G H5346613877Familial partial lipodystrophy 4613877C3151268OMIM1949076170290
HP:0003712HP:0040265Upper limb muscle hypertrophy1PLIN1 CL E G H5346613877Familial partial lipodystrophy 4613877C3151268OMIM1949076170290
HP:0003712HP:0012892Facial muscle hypertrophy1PLIN1 CL E G H5346613877Familial partial lipodystrophy 4613877C3151268OMIM1949076170290
HP:0003712HP:0012895Scapular muscle hypertrophy1PLIN1 CL E G H5346613877Familial partial lipodystrophy 4613877C3151268OMIM1949076170290
HP:0003712HP:0000158Macroglossia1PLIN1 CL E G H5346613877Familial partial lipodystrophy 4613877C3151268OMIM11029076170290
HP:0003712HP:0003720Generalized muscle hypertrophy1PLIN1 CL E G H5346613877Familial partial lipodystrophy 4613877C3151268OMIM11029076170290
HP:0003712HP:0000158Macroglossia1POMGNT1 CL E G H55624613157Limb-girdle muscular dystrophy-dystroglycanopathy, type C3613157C3150417OMIM166219139606822
HP:0003712HP:0003720Generalized muscle hypertrophy1POMGNT1 CL E G H55624613157Limb-girdle muscular dystrophy-dystroglycanopathy, type C3613157C3150417OMIM166219139606822
HP:0003712HP:0012894Paraspinal muscle hypertrophy1POMGNT1 CL E G H55624613157Limb-girdle muscular dystrophy-dystroglycanopathy, type C3613157C3150417OMIM166219139606822
HP:0003712HP:0012893Neck muscle hypertrophy1POMGNT1 CL E G H55624613157Limb-girdle muscular dystrophy-dystroglycanopathy, type C3613157C3150417OMIM179719139606822
HP:0003712HP:0012895Scapular muscle hypertrophy1POMGNT1 CL E G H55624613157Limb-girdle muscular dystrophy-dystroglycanopathy, type C3613157C3150417OMIM179719139606822
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1POMGNT1 CL E G H55624613157Limb-girdle muscular dystrophy-dystroglycanopathy, type C3613157C3150417OMIM179719139606822
HP:0003712HP:0040265Upper limb muscle hypertrophy1POMGNT1 CL E G H55624613157Limb-girdle muscular dystrophy-dystroglycanopathy, type C3613157C3150417OMIM179719139606822
HP:0003712HP:0012892Facial muscle hypertrophy1POMGNT1 CL E G H55624613157Limb-girdle muscular dystrophy-dystroglycanopathy, type C3613157C3150417OMIM179719139606822
HP:0003712HP:0009042Marked muscular hypertrophy1POMGNT1 CL E G H55624613157Limb-girdle muscular dystrophy-dystroglycanopathy, type C3613157C3150417OMIM179719139606822
HP:0003712HP:0012895Scapular muscle hypertrophy1POMGNT1 CL E G H55624613157Limb-girdle muscular dystrophy-dystroglycanopathy, type C3613157C3150417OMIM166219139606822
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1POMGNT1 CL E G H55624613157Limb-girdle muscular dystrophy-dystroglycanopathy, type C3613157C3150417OMIM166219139606822
HP:0003712HP:0040265Upper limb muscle hypertrophy1POMGNT1 CL E G H55624613157Limb-girdle muscular dystrophy-dystroglycanopathy, type C3613157C3150417OMIM166219139606822
HP:0003712HP:0012892Facial muscle hypertrophy1POMGNT1 CL E G H55624613157Limb-girdle muscular dystrophy-dystroglycanopathy, type C3613157C3150417OMIM166219139606822
HP:0003712HP:0009042Marked muscular hypertrophy1POMGNT1 CL E G H55624613157Limb-girdle muscular dystrophy-dystroglycanopathy, type C3613157C3150417OMIM166219139606822
HP:0003712HP:0012893Neck muscle hypertrophy1POMGNT1 CL E G H55624613157Limb-girdle muscular dystrophy-dystroglycanopathy, type C3613157C3150417OMIM166219139606822
HP:0003712HP:0012894Paraspinal muscle hypertrophy1POMGNT1 CL E G H55624613157Limb-girdle muscular dystrophy-dystroglycanopathy, type C3613157C3150417OMIM179719139606822
HP:0003712HP:0000158Macroglossia1POMGNT1 CL E G H55624613157Limb-girdle muscular dystrophy-dystroglycanopathy, type C3613157C3150417OMIM179719139606822
HP:0003712HP:0003720Generalized muscle hypertrophy1POMGNT1 CL E G H55624613157Limb-girdle muscular dystrophy-dystroglycanopathy, type C3613157C3150417OMIM179719139606822
HP:0003712HP:0000158Macroglossia1POMT2 CL E G H29954613158Limb-girdle muscular dystrophy-dystroglycanopathy, type C2613158C3150418OMIM160419743607439
HP:0003712HP:0003720Generalized muscle hypertrophy1POMT2 CL E G H29954613158Limb-girdle muscular dystrophy-dystroglycanopathy, type C2613158C3150418OMIM160419743607439
HP:0003712HP:0012894Paraspinal muscle hypertrophy1POMT2 CL E G H29954613158Limb-girdle muscular dystrophy-dystroglycanopathy, type C2613158C3150418OMIM160419743607439
HP:0003712HP:0040265Upper limb muscle hypertrophy1POMT2 CL E G H29954613158Limb-girdle muscular dystrophy-dystroglycanopathy, type C2613158C3150418OMIM169119743607439
HP:0003712HP:0012892Facial muscle hypertrophy1POMT2 CL E G H29954613158Limb-girdle muscular dystrophy-dystroglycanopathy, type C2613158C3150418OMIM169119743607439
HP:0003712HP:0009042Marked muscular hypertrophy1POMT2 CL E G H29954613158Limb-girdle muscular dystrophy-dystroglycanopathy, type C2613158C3150418OMIM169119743607439
HP:0003712HP:0012893Neck muscle hypertrophy1POMT2 CL E G H29954613158Limb-girdle muscular dystrophy-dystroglycanopathy, type C2613158C3150418OMIM169119743607439
HP:0003712HP:0012895Scapular muscle hypertrophy1POMT2 CL E G H29954613158Limb-girdle muscular dystrophy-dystroglycanopathy, type C2613158C3150418OMIM169119743607439
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1POMT2 CL E G H29954613158Limb-girdle muscular dystrophy-dystroglycanopathy, type C2613158C3150418OMIM169119743607439
HP:0003712HP:0040265Upper limb muscle hypertrophy1POMT2 CL E G H29954613158Limb-girdle muscular dystrophy-dystroglycanopathy, type C2613158C3150418OMIM160419743607439
HP:0003712HP:0012892Facial muscle hypertrophy1POMT2 CL E G H29954613158Limb-girdle muscular dystrophy-dystroglycanopathy, type C2613158C3150418OMIM160419743607439
HP:0003712HP:0009042Marked muscular hypertrophy1POMT2 CL E G H29954613158Limb-girdle muscular dystrophy-dystroglycanopathy, type C2613158C3150418OMIM160419743607439
HP:0003712HP:0012893Neck muscle hypertrophy1POMT2 CL E G H29954613158Limb-girdle muscular dystrophy-dystroglycanopathy, type C2613158C3150418OMIM160419743607439
HP:0003712HP:0012895Scapular muscle hypertrophy1POMT2 CL E G H29954613158Limb-girdle muscular dystrophy-dystroglycanopathy, type C2613158C3150418OMIM160419743607439
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1POMT2 CL E G H29954613158Limb-girdle muscular dystrophy-dystroglycanopathy, type C2613158C3150418OMIM160419743607439
HP:0003712HP:0000158Macroglossia1POMT2 CL E G H29954613158Limb-girdle muscular dystrophy-dystroglycanopathy, type C2613158C3150418OMIM169119743607439
HP:0003712HP:0003720Generalized muscle hypertrophy1POMT2 CL E G H29954613158Limb-girdle muscular dystrophy-dystroglycanopathy, type C2613158C3150418OMIM169119743607439
HP:0003712HP:0012894Paraspinal muscle hypertrophy1POMT2 CL E G H29954613158Limb-girdle muscular dystrophy-dystroglycanopathy, type C2613158C3150418OMIM169119743607439
HP:0003712HP:0000158Macroglossia1PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA11249236601487
HP:0003712HP:0003720Generalized muscle hypertrophy1PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA11249236601487
HP:0003712HP:0012894Paraspinal muscle hypertrophy1PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA11249236601487
HP:0003712HP:0000158Macroglossia1PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA11089236601487
HP:0003712HP:0003720Generalized muscle hypertrophy1PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA11089236601487
HP:0003712HP:0012894Paraspinal muscle hypertrophy1PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA11089236601487
HP:0003712HP:0012892Facial muscle hypertrophy1PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA11249236601487
HP:0003712HP:0009042Marked muscular hypertrophy1PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA11249236601487
HP:0003712HP:0012893Neck muscle hypertrophy1PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA11249236601487
HP:0003712HP:0012895Scapular muscle hypertrophy1PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA11249236601487
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA11249236601487
HP:0003712HP:0040265Upper limb muscle hypertrophy1PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA11249236601487
HP:0003712HP:0012892Facial muscle hypertrophy1PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA11089236601487
HP:0003712HP:0009042Marked muscular hypertrophy1PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA11089236601487
HP:0003712HP:0012893Neck muscle hypertrophy1PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA11089236601487
HP:0003712HP:0012895Scapular muscle hypertrophy1PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA11089236601487
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA11089236601487
HP:0003712HP:0040265Upper limb muscle hypertrophy1PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA11089236601487
HP:0003712HP:0012894Paraspinal muscle hypertrophy1PRPS1 CL E G H563199014ORPHA13219462311850
HP:0003712HP:0000158Macroglossia1PRPS1 CL E G H563199014ORPHA13219462311850
HP:0003712HP:0003720Generalized muscle hypertrophy1PRPS1 CL E G H563199014ORPHA13219462311850
HP:0003712HP:0012894Paraspinal muscle hypertrophy1PRPS1 CL E G H563199014ORPHA13039462311850
HP:0003712HP:0000158Macroglossia1PRPS1 CL E G H563199014ORPHA13039462311850
HP:0003712HP:0003720Generalized muscle hypertrophy1PRPS1 CL E G H563199014ORPHA13039462311850
HP:0003712HP:0012893Neck muscle hypertrophy1PRPS1 CL E G H563199014ORPHA13219462311850
HP:0003712HP:0012895Scapular muscle hypertrophy1PRPS1 CL E G H563199014ORPHA13219462311850
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1PRPS1 CL E G H563199014ORPHA13219462311850
HP:0003712HP:0040265Upper limb muscle hypertrophy1PRPS1 CL E G H563199014ORPHA13219462311850
HP:0003712HP:0012892Facial muscle hypertrophy1PRPS1 CL E G H563199014ORPHA13219462311850
HP:0003712HP:0009042Marked muscular hypertrophy1PRPS1 CL E G H563199014ORPHA13219462311850
HP:0003712HP:0012893Neck muscle hypertrophy1PRPS1 CL E G H563199014ORPHA13039462311850
HP:0003712HP:0012895Scapular muscle hypertrophy1PRPS1 CL E G H563199014ORPHA13039462311850
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1PRPS1 CL E G H563199014ORPHA13039462311850
HP:0003712HP:0040265Upper limb muscle hypertrophy1PRPS1 CL E G H563199014ORPHA13039462311850
HP:0003712HP:0012892Facial muscle hypertrophy1PRPS1 CL E G H563199014ORPHA13039462311850
HP:0003712HP:0009042Marked muscular hypertrophy1PRPS1 CL E G H563199014ORPHA13039462311850
HP:0003712HP:0000158Macroglossia1SCN4A CL E G H6329168300Paramyotonia congenita of von Eulenburg168300C0221055OMIM1108110591603967
HP:0003712HP:0003720Generalized muscle hypertrophy1SCN4A CL E G H6329168300Paramyotonia congenita of von Eulenburg168300C0221055OMIM1108110591603967
HP:0003712HP:0012894Paraspinal muscle hypertrophy1SCN4A CL E G H6329168300Paramyotonia congenita of von Eulenburg168300C0221055OMIM1108110591603967
HP:0003712HP:0040265Upper limb muscle hypertrophy1SCN4A CL E G H6329168300Paramyotonia congenita of von Eulenburg168300C0221055OMIM1124110591603967
HP:0003712HP:0012892Facial muscle hypertrophy1SCN4A CL E G H6329168300Paramyotonia congenita of von Eulenburg168300C0221055OMIM1124110591603967
HP:0003712HP:0009042Marked muscular hypertrophy1SCN4A CL E G H6329168300Paramyotonia congenita of von Eulenburg168300C0221055OMIM1124110591603967
HP:0003712HP:0012893Neck muscle hypertrophy1SCN4A CL E G H6329168300Paramyotonia congenita of von Eulenburg168300C0221055OMIM1124110591603967
HP:0003712HP:0012895Scapular muscle hypertrophy1SCN4A CL E G H6329168300Paramyotonia congenita of von Eulenburg168300C0221055OMIM1124110591603967
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1SCN4A CL E G H6329168300Paramyotonia congenita of von Eulenburg168300C0221055OMIM1124110591603967
HP:0003712HP:0040265Upper limb muscle hypertrophy1SCN4A CL E G H6329168300Paramyotonia congenita of von Eulenburg168300C0221055OMIM1108110591603967
HP:0003712HP:0012892Facial muscle hypertrophy1SCN4A CL E G H6329168300Paramyotonia congenita of von Eulenburg168300C0221055OMIM1108110591603967
HP:0003712HP:0009042Marked muscular hypertrophy1SCN4A CL E G H6329168300Paramyotonia congenita of von Eulenburg168300C0221055OMIM1108110591603967
HP:0003712HP:0012893Neck muscle hypertrophy1SCN4A CL E G H6329168300Paramyotonia congenita of von Eulenburg168300C0221055OMIM1108110591603967
HP:0003712HP:0012895Scapular muscle hypertrophy1SCN4A CL E G H6329168300Paramyotonia congenita of von Eulenburg168300C0221055OMIM1108110591603967
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1SCN4A CL E G H6329168300Paramyotonia congenita of von Eulenburg168300C0221055OMIM1108110591603967
HP:0003712HP:0000158Macroglossia1SCN4A CL E G H6329168300Paramyotonia congenita of von Eulenburg168300C0221055OMIM1124110591603967
HP:0003712HP:0003720Generalized muscle hypertrophy1SCN4A CL E G H6329168300Paramyotonia congenita of von Eulenburg168300C0221055OMIM1124110591603967
HP:0003712HP:0012894Paraspinal muscle hypertrophy1SCN4A CL E G H6329168300Paramyotonia congenita of von Eulenburg168300C0221055OMIM1124110591603967
HP:0003712HP:0000158Macroglossia1SCN4A CL E G H6329608390Potassium aggravated myotonia608390C0752355OMIM1108110591603967
HP:0003712HP:0003720Generalized muscle hypertrophy1SCN4A CL E G H6329608390Potassium aggravated myotonia608390C0752355OMIM1108110591603967
HP:0003712HP:0012894Paraspinal muscle hypertrophy1SCN4A CL E G H6329608390Potassium aggravated myotonia608390C0752355OMIM1108110591603967
HP:0003712HP:0040265Upper limb muscle hypertrophy1SCN4A CL E G H6329608390Potassium aggravated myotonia608390C0752355OMIM1124110591603967
HP:0003712HP:0012892Facial muscle hypertrophy1SCN4A CL E G H6329608390Potassium aggravated myotonia608390C0752355OMIM1124110591603967
HP:0003712HP:0009042Marked muscular hypertrophy1SCN4A CL E G H6329608390Potassium aggravated myotonia608390C0752355OMIM1124110591603967
HP:0003712HP:0012893Neck muscle hypertrophy1SCN4A CL E G H6329608390Potassium aggravated myotonia608390C0752355OMIM1124110591603967
HP:0003712HP:0012895Scapular muscle hypertrophy1SCN4A CL E G H6329608390Potassium aggravated myotonia608390C0752355OMIM1124110591603967
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1SCN4A CL E G H6329608390Potassium aggravated myotonia608390C0752355OMIM1124110591603967
HP:0003712HP:0012892Facial muscle hypertrophy1SCN4A CL E G H6329608390Potassium aggravated myotonia608390C0752355OMIM1108110591603967
HP:0003712HP:0009042Marked muscular hypertrophy1SCN4A CL E G H6329608390Potassium aggravated myotonia608390C0752355OMIM1108110591603967
HP:0003712HP:0012893Neck muscle hypertrophy1SCN4A CL E G H6329608390Potassium aggravated myotonia608390C0752355OMIM1108110591603967
HP:0003712HP:0012895Scapular muscle hypertrophy1SCN4A CL E G H6329608390Potassium aggravated myotonia608390C0752355OMIM1108110591603967
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1SCN4A CL E G H6329608390Potassium aggravated myotonia608390C0752355OMIM1108110591603967
HP:0003712HP:0040265Upper limb muscle hypertrophy1SCN4A CL E G H6329608390Potassium aggravated myotonia608390C0752355OMIM1108110591603967
HP:0003712HP:0000158Macroglossia1SCN4A CL E G H6329608390Potassium aggravated myotonia608390C0752355OMIM1124110591603967
HP:0003712HP:0003720Generalized muscle hypertrophy1SCN4A CL E G H6329608390Potassium aggravated myotonia608390C0752355OMIM1124110591603967
HP:0003712HP:0012894Paraspinal muscle hypertrophy1SCN4A CL E G H6329608390Potassium aggravated myotonia608390C0752355OMIM1124110591603967
HP:0003712HP:0000158Macroglossia1SHOX CL E G H6473314795ORPHA126910853312865
HP:0003712HP:0003720Generalized muscle hypertrophy1SHOX CL E G H6473314795ORPHA126910853312865
HP:0003712HP:0012894Paraspinal muscle hypertrophy1SHOX CL E G H6473314795ORPHA126910853312865
HP:0003712HP:0000158Macroglossia1SHOX CL E G H6473314795ORPHA126610853312865
HP:0003712HP:0003720Generalized muscle hypertrophy1SHOX CL E G H6473314795ORPHA126610853312865
HP:0003712HP:0012894Paraspinal muscle hypertrophy1SHOX CL E G H6473314795ORPHA126610853312865
HP:0003712HP:0012893Neck muscle hypertrophy1SHOX CL E G H6473314795ORPHA126910853312865
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1SHOX CL E G H6473314795ORPHA126910853312865
HP:0003712HP:0040265Upper limb muscle hypertrophy1SHOX CL E G H6473314795ORPHA126910853312865
HP:0003712HP:0012892Facial muscle hypertrophy1SHOX CL E G H6473314795ORPHA126910853312865
HP:0003712HP:0012895Scapular muscle hypertrophy1SHOX CL E G H6473314795ORPHA126910853312865
HP:0003712HP:0009042Marked muscular hypertrophy1SHOX CL E G H6473314795ORPHA126910853312865
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1SHOX CL E G H6473314795ORPHA126610853312865
HP:0003712HP:0040265Upper limb muscle hypertrophy1SHOX CL E G H6473314795ORPHA126610853312865
HP:0003712HP:0012892Facial muscle hypertrophy1SHOX CL E G H6473314795ORPHA126610853312865
HP:0003712HP:0012893Neck muscle hypertrophy1SHOX CL E G H6473314795ORPHA126610853312865
HP:0003712HP:0012895Scapular muscle hypertrophy1SHOX CL E G H6473314795ORPHA126610853312865
HP:0003712HP:0009042Marked muscular hypertrophy1SHOX CL E G H6473314795ORPHA126610853312865
HP:0003712HP:0012894Paraspinal muscle hypertrophy1SHOX CL E G H6473127300Leri Weill dyschondrosteosis127300C0265309OMIM126610853312865
HP:0003712HP:0000158Macroglossia1SHOX CL E G H6473127300Leri Weill dyschondrosteosis127300C0265309OMIM126610853312865
HP:0003712HP:0003720Generalized muscle hypertrophy1SHOX CL E G H6473127300Leri Weill dyschondrosteosis127300C0265309OMIM126610853312865
HP:0003712HP:0009042Marked muscular hypertrophy1SHOX CL E G H6473127300Leri Weill dyschondrosteosis127300C0265309OMIM126910853312865
HP:0003712HP:0012893Neck muscle hypertrophy1SHOX CL E G H6473127300Leri Weill dyschondrosteosis127300C0265309OMIM126910853312865
HP:0003712HP:0012895Scapular muscle hypertrophy1SHOX CL E G H6473127300Leri Weill dyschondrosteosis127300C0265309OMIM126910853312865
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1SHOX CL E G H6473127300Leri Weill dyschondrosteosis127300C0265309OMIM126910853312865
HP:0003712HP:0040265Upper limb muscle hypertrophy1SHOX CL E G H6473127300Leri Weill dyschondrosteosis127300C0265309OMIM126910853312865
HP:0003712HP:0012892Facial muscle hypertrophy1SHOX CL E G H6473127300Leri Weill dyschondrosteosis127300C0265309OMIM126910853312865
HP:0003712HP:0012893Neck muscle hypertrophy1SHOX CL E G H6473127300Leri Weill dyschondrosteosis127300C0265309OMIM126610853312865
HP:0003712HP:0012895Scapular muscle hypertrophy1SHOX CL E G H6473127300Leri Weill dyschondrosteosis127300C0265309OMIM126610853312865
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1SHOX CL E G H6473127300Leri Weill dyschondrosteosis127300C0265309OMIM126610853312865
HP:0003712HP:0040265Upper limb muscle hypertrophy1SHOX CL E G H6473127300Leri Weill dyschondrosteosis127300C0265309OMIM126610853312865
HP:0003712HP:0012892Facial muscle hypertrophy1SHOX CL E G H6473127300Leri Weill dyschondrosteosis127300C0265309OMIM126610853312865
HP:0003712HP:0009042Marked muscular hypertrophy1SHOX CL E G H6473127300Leri Weill dyschondrosteosis127300C0265309OMIM126610853312865
HP:0003712HP:0012894Paraspinal muscle hypertrophy1SHOX CL E G H6473127300Leri Weill dyschondrosteosis127300C0265309OMIM126910853312865
HP:0003712HP:0000158Macroglossia1SHOX CL E G H6473127300Leri Weill dyschondrosteosis127300C0265309OMIM126910853312865
HP:0003712HP:0003720Generalized muscle hypertrophy1SHOX CL E G H6473127300Leri Weill dyschondrosteosis127300C0265309OMIM126910853312865
HP:0003712HP:0000158Macroglossia1SMAD4 CL E G H40892588ORPHA114956770600993
HP:0003712HP:0003720Generalized muscle hypertrophy1SMAD4 CL E G H40892588ORPHA114956770600993
HP:0003712HP:0012894Paraspinal muscle hypertrophy1SMAD4 CL E G H40892588ORPHA114956770600993
HP:0003712HP:0000158Macroglossia1SMAD4 CL E G H40892588ORPHA113596770600993
HP:0003712HP:0003720Generalized muscle hypertrophy1SMAD4 CL E G H40892588ORPHA113596770600993
HP:0003712HP:0012894Paraspinal muscle hypertrophy1SMAD4 CL E G H40892588ORPHA113596770600993
HP:0003712HP:0009042Marked muscular hypertrophy1SMAD4 CL E G H40892588ORPHA114956770600993
HP:0003712HP:0012893Neck muscle hypertrophy1SMAD4 CL E G H40892588ORPHA114956770600993
HP:0003712HP:0012895Scapular muscle hypertrophy1SMAD4 CL E G H40892588ORPHA114956770600993
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1SMAD4 CL E G H40892588ORPHA114956770600993
HP:0003712HP:0040265Upper limb muscle hypertrophy1SMAD4 CL E G H40892588ORPHA114956770600993
HP:0003712HP:0012892Facial muscle hypertrophy1SMAD4 CL E G H40892588ORPHA114956770600993
HP:0003712HP:0009042Marked muscular hypertrophy1SMAD4 CL E G H40892588ORPHA113596770600993
HP:0003712HP:0012893Neck muscle hypertrophy1SMAD4 CL E G H40892588ORPHA113596770600993
HP:0003712HP:0012895Scapular muscle hypertrophy1SMAD4 CL E G H40892588ORPHA113596770600993
HP:0003712HP:0008968Muscle hypertrophy of the lower extremities1SMAD4 CL E G H40892588ORPHA113596770600993
HP:0003712HP:0040265Upper limb muscle hypertrophy1SMAD4 CL E G H40892588ORPHA113596770600993
HP:0003712HP:0012892Facial muscle hypertrophy1SMAD4 CL E G H40892588ORPHA113596770600993
HP:0003712HP:0003733Thigh hypertrophy2AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1205325603100
HP:0003712HP:0040267Distal upper limb muscle hypertrophy2AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1205325603100
HP:0003712HP:0030284Triangular tongue2AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1205325603100
HP:0003712HP:0008981Calf muscle hypertrophy2AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1205325603100
HP:0003712HP:0003733Thigh hypertrophy2AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1203325603100
HP:0003712HP:0040267Distal upper limb muscle hypertrophy2AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1203325603100
HP:0003712HP:0030284Triangular tongue2AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1203325603100
HP:0003712HP:0008981Calf muscle hypertrophy2AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1203325603100
HP:0003712HP:0040266Proximal upper limb muscle hypertrophy2AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1205325603100
HP:0003712HP:0100875Hemimacroglossia2AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1205325603100
HP:0003712HP:0040266Proximal upper limb muscle hypertrophy2AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1203325603100
HP:0003712HP:0100875Hemimacroglossia2AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1203325603100
HP:0003712HP:0040267Distal upper limb muscle hypertrophy2BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA137315832606158
HP:0003712HP:0030284Triangular tongue2BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA137315832606158
HP:0003712HP:0008981Calf muscle hypertrophy2BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA137315832606158
HP:0003712HP:0003733Thigh hypertrophy2BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA137315832606158
HP:0003712HP:0040267Distal upper limb muscle hypertrophy2BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA133015832606158
HP:0003712HP:0030284Triangular tongue2BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA133015832606158
HP:0003712HP:0008981Calf muscle hypertrophy2BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA133015832606158
HP:0003712HP:0003733Thigh hypertrophy2BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA133015832606158
HP:0003712HP:0040266Proximal upper limb muscle hypertrophy2BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA137315832606158
HP:0003712HP:0100875Hemimacroglossia2BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA137315832606158
HP:0003712HP:0040266Proximal upper limb muscle hypertrophy2BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA133015832606158
HP:0003712HP:0100875Hemimacroglossia2BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA133015832606158
HP:0003712HP:0030284Triangular tongue2CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA1851527601047
HP:0003712HP:0008981Calf muscle hypertrophy2CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA1851527601047
HP:0003712HP:0003733Thigh hypertrophy2CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA1851527601047
HP:0003712HP:0040267Distal upper limb muscle hypertrophy2CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA1851527601047
HP:0003712HP:0030284Triangular tongue2CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA1811527601047
HP:0003712HP:0008981Calf muscle hypertrophy2CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA1811527601047
HP:0003712HP:0003733Thigh hypertrophy2CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA1811527601047
HP:0003712HP:0040267Distal upper limb muscle hypertrophy2CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA1811527601047
HP:0003712HP:0100875Hemimacroglossia2CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA1851527601047
HP:0003712HP:0040266Proximal upper limb muscle hypertrophy2CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA1851527601047
HP:0003712HP:0040266Proximal upper limb muscle hypertrophy2CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA1811527601047
HP:0003712HP:0100875Hemimacroglossia2CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA1811527601047
HP:0003712HP:0003733Thigh hypertrophy2CAV3 CL E G H859606072Rippling muscle disease606072C1853698OMIM13351529601253
HP:0003712HP:0040267Distal upper limb muscle hypertrophy2CAV3 CL E G H859606072Rippling muscle disease606072C1853698OMIM13351529601253
HP:0003712HP:0030284Triangular tongue2CAV3 CL E G H859606072Rippling muscle disease606072C1853698OMIM13351529601253
HP:0003712HP:0008981Calf muscle hypertrophy2CAV3 CL E G H859606072Rippling muscle disease606072C1853698OMIM13351529601253
HP:0003712HP:0040266Proximal upper limb muscle hypertrophy2CAV3 CL E G H859606072Rippling muscle disease606072C1853698OMIM13541529601253
HP:0003712HP:0100875Hemimacroglossia2CAV3 CL E G H859606072Rippling muscle disease606072C1853698OMIM13541529601253
HP:0003712HP:0040266Proximal upper limb muscle hypertrophy2CAV3 CL E G H859606072Rippling muscle disease606072C1853698OMIM13351529601253
HP:0003712HP:0100875Hemimacroglossia2CAV3 CL E G H859606072Rippling muscle disease606072C1853698OMIM13351529601253
HP:0003712HP:0003733Thigh hypertrophy2CAV3 CL E G H859606072Rippling muscle disease606072C1853698OMIM13541529601253
HP:0003712HP:0040267Distal upper limb muscle hypertrophy2CAV3 CL E G H859606072Rippling muscle disease606072C1853698OMIM13541529601253
HP:0003712HP:0030284Triangular tongue2CAV3 CL E G H859606072Rippling muscle disease606072C1853698OMIM13541529601253
HP:0003712HP:0008981Calf muscle hypertrophy2CAV3 CL E G H859606072Rippling muscle disease606072C1853698OMIM13541529601253
HP:0003712HP:0008981Calf muscle hypertrophy2CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA11109688603198
HP:0003712HP:0003733Thigh hypertrophy2CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA11109688603198
HP:0003712HP:0040267Distal upper limb muscle hypertrophy2CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA11109688603198
HP:0003712HP:0030284Triangular tongue2CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA11109688603198
HP:0003712HP:0008981Calf muscle hypertrophy2CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA11099688603198
HP:0003712HP:0003733Thigh hypertrophy2CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA11099688603198
HP:0003712HP:0040267Distal upper limb muscle hypertrophy2CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA11099688603198
HP:0003712HP:0030284Triangular tongue2CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA11099688603198
HP:0003712HP:0040266Proximal upper limb muscle hypertrophy2CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA11109688603198
HP:0003712HP:0100875Hemimacroglossia2CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA11109688603198
HP:0003712HP:0040266Proximal upper limb muscle hypertrophy2CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA11099688603198
HP:0003712HP:0100875Hemimacroglossia2CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA11099688603198
HP:0003712HP:0030284Triangular tongue2CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11099688603198
HP:0003712HP:0008981Calf muscle hypertrophy2CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11099688603198
HP:0003712HP:0003733Thigh hypertrophy2CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11099688603198
HP:0003712HP:0040267Distal upper limb muscle hypertrophy2CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11099688603198
HP:0003712HP:0040266Proximal upper limb muscle hypertrophy2CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11109688603198
HP:0003712HP:0100875Hemimacroglossia2CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11109688603198
HP:0003712HP:0040266Proximal upper limb muscle hypertrophy2CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11099688603198
HP:0003712HP:0100875Hemimacroglossia2CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11099688603198
HP:0003712HP:0040267Distal upper limb muscle hypertrophy2CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11109688603198
HP:0003712HP:0030284Triangular tongue2CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11109688603198
HP:0003712HP:0008981Calf muscle hypertrophy2CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11109688603198
HP:0003712HP:0003733Thigh hypertrophy2CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11109688603198
HP:0003712HP:0030284Triangular tongue2FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM15993622607440
HP:0003712HP:0008981Calf muscle hypertrophy2FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM15993622607440
HP:0003712HP:0003733Thigh hypertrophy2FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM15993622607440
HP:0003712HP:0040267Distal upper limb muscle hypertrophy2FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM15993622607440
HP:0003712HP:0100875Hemimacroglossia2FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM16793622607440
HP:0003712HP:0040266Proximal upper limb muscle hypertrophy2FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM16793622607440
HP:0003712HP:0100875Hemimacroglossia2FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM15993622607440
HP:0003712HP:0040266Proximal upper limb muscle hypertrophy2FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM15993622607440
HP:0003712HP:0030284Triangular tongue2FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM16793622607440
HP:0003712HP:0008981Calf muscle hypertrophy2FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM16793622607440
HP:0003712HP:0003733Thigh hypertrophy2FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM16793622607440
HP:0003712HP:0040267Distal upper limb muscle hypertrophy2FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM16793622607440
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:0100875Hemimacroglossia2FOS 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: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:0008981Calf muscle hypertrophy2HSPG2 CL E G H3339800ORPHA116005273142461
HP:0003712HP:0003733Thigh hypertrophy2HSPG2 CL E G H3339800ORPHA116005273142461
HP:0003712HP:0040267Distal upper limb muscle hypertrophy2HSPG2 CL E G H3339800ORPHA116005273142461
HP:0003712HP:0030284Triangular tongue2HSPG2 CL E G H3339800ORPHA116005273142461
HP:0003712HP:0008981Calf muscle hypertrophy2HSPG2 CL E G H3339800ORPHA113275273142461
HP:0003712HP:0003733Thigh hypertrophy2HSPG2 CL E G H3339800ORPHA113275273142461
HP:0003712HP:0040267Distal upper limb muscle hypertrophy2HSPG2 CL E G H3339800ORPHA113275273142461
HP:0003712HP:0030284Triangular tongue2HSPG2 CL E G H3339800ORPHA113275273142461
HP:0003712HP:0040266Proximal upper limb muscle hypertrophy2HSPG2 CL E G H3339800ORPHA116005273142461
HP:0003712HP:0100875Hemimacroglossia2HSPG2 CL E G H3339800ORPHA116005273142461
HP:0003712HP:0040266Proximal upper limb muscle hypertrophy2HSPG2 CL E G H3339800ORPHA113275273142461
HP:0003712HP:0100875Hemimacroglossia2HSPG2 CL E G H3339800ORPHA113275273142461
HP:0003712HP:0030284Triangular tongue2HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM113275273142461
HP:0003712HP:0008981Calf muscle hypertrophy2HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM113275273142461
HP:0003712HP:0003733Thigh hypertrophy2HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM113275273142461
HP:0003712HP:0040267Distal upper limb muscle hypertrophy2HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM113275273142461
HP:0003712HP:0040266Proximal upper limb muscle hypertrophy2HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM116005273142461
HP:0003712HP:0100875Hemimacroglossia2HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM116005273142461
HP:0003712HP:0040266Proximal upper limb muscle hypertrophy2HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM113275273142461
HP:0003712HP:0100875Hemimacroglossia2HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM113275273142461
HP:0003712HP:0030284Triangular tongue2HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM116005273142461
HP:0003712HP:0008981Calf muscle hypertrophy2HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM116005273142461
HP:0003712HP:0003733Thigh hypertrophy2HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM116005273142461
HP:0003712HP:0040267Distal upper limb muscle hypertrophy2HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM116005273142461
HP:0003712HP:0003733Thigh hypertrophy2LMNA CL E G H40002348ORPHA114866636150330
HP:0003712HP:0040267Distal upper limb muscle hypertrophy2LMNA CL E G H40002348ORPHA114866636150330
HP:0003712HP:0030284Triangular tongue2LMNA CL E G H40002348ORPHA114866636150330
HP:0003712HP:0008981Calf muscle hypertrophy2LMNA CL E G H40002348ORPHA114866636150330
HP:0003712HP:0040267Distal upper limb muscle hypertrophy2LMNA CL E G H40002348ORPHA113476636150330
HP:0003712HP:0030284Triangular tongue2LMNA CL E G H40002348ORPHA113476636150330
HP:0003712HP:0008981Calf muscle hypertrophy2LMNA CL E G H40002348ORPHA113476636150330
HP:0003712HP:0003733Thigh hypertrophy2LMNA CL E G H40002348ORPHA113476636150330
HP:0003712HP:0040266Proximal upper limb muscle hypertrophy2LMNA CL E G H40002348ORPHA114866636150330
HP:0003712HP:0100875Hemimacroglossia2LMNA CL E G H40002348ORPHA114866636150330
HP:0003712HP:0040266Proximal upper limb muscle hypertrophy2LMNA CL E G H40002348ORPHA113476636150330
HP:0003712HP:0100875Hemimacroglossia2LMNA CL E G H40002348ORPHA113476636150330
HP:0003712HP:0040267Distal upper limb muscle hypertrophy2LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM113476636150330
HP:0003712HP:0030284Triangular tongue2LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM113476636150330
HP:0003712HP:0008981Calf muscle hypertrophy2LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM113476636150330
HP:0003712HP:0003733Thigh hypertrophy2LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM113476636150330
HP:0003712HP:0040266Proximal upper limb muscle hypertrophy2LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM114866636150330
HP:0003712HP:0100875Hemimacroglossia2LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM114866636150330
HP:0003712HP:0040266Proximal upper limb muscle hypertrophy2LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM113476636150330
HP:0003712HP:0100875Hemimacroglossia2LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM113476636150330
HP:0003712HP:0040267Distal upper limb muscle hypertrophy2LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM114866636150330
HP:0003712HP:0030284Triangular tongue2LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM114866636150330
HP:0003712HP:0008981Calf muscle hypertrophy2LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM114866636150330
HP:0003712HP:0003733Thigh hypertrophy2LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM114866636150330
HP:0003712HP:0030284Triangular tongue2MPZ CL E G H4359101082ORPHA15227225159440
HP:0003712HP:0008981Calf muscle hypertrophy2MPZ CL E G H4359101082ORPHA15227225159440
HP:0003712HP:0003733Thigh hypertrophy2MPZ CL E G H4359101082ORPHA15227225159440
HP:0003712HP:0040267Distal upper limb muscle hypertrophy2MPZ CL E G H4359101082ORPHA15227225159440
HP:0003712HP:0030284Triangular tongue2MPZ CL E G H4359101082ORPHA14937225159440
HP:0003712HP:0008981Calf muscle hypertrophy2MPZ CL E G H4359101082ORPHA14937225159440
HP:0003712HP:0003733Thigh hypertrophy2MPZ CL E G H4359101082ORPHA14937225159440
HP:0003712HP:0040267Distal upper limb muscle hypertrophy2MPZ CL E G H4359101082ORPHA14937225159440
HP:0003712HP:0100875Hemimacroglossia2MPZ CL E G H4359101082ORPHA15227225159440
HP:0003712HP:0040266Proximal upper limb muscle hypertrophy2MPZ CL E G H4359101082ORPHA15227225159440
HP:0003712HP:0100875Hemimacroglossia2MPZ CL E G H4359101082ORPHA14937225159440
HP:0003712HP:0040266Proximal upper limb muscle hypertrophy2MPZ CL E G H4359101082ORPHA14937225159440
HP:0003712HP:0030284Triangular tongue2MSTN CL E G H2660614160Muscle hypertrophy614160C0236033OMIM1834223601788
HP:0003712HP:0003733Thigh hypertrophy2MSTN CL E G H2660614160Muscle hypertrophy614160C0236033OMIM1834223601788
HP:0003712HP:0100875Hemimacroglossia2MSTN CL E G H2660614160Muscle hypertrophy614160C0236033OMIM1834223601788
HP:0003712HP:0040266Proximal upper limb muscle hypertrophy2MSTN CL E G H2660614160Muscle hypertrophy614160C0236033OMIM1834223601788
HP:0003712HP:0008981Calf muscle hypertrophy2MSTN CL E G H2660614160Muscle hypertrophy614160C0236033OMIM1834223601788
HP:0003712HP:0040267Distal upper limb muscle hypertrophy2MSTN CL E G H2660614160Muscle hypertrophy614160C0236033OMIM1834223601788
HP:0003712HP:0030284Triangular tongue2PLIN1 CL E G H5346613877Familial partial lipodystrophy 4613877C3151268OMIM1949076170290
HP:0003712HP:0008981Calf muscle hypertrophy2PLIN1 CL E G H5346613877Familial partial lipodystrophy 4613877C3151268OMIM1949076170290
HP:0003712HP:0003733Thigh hypertrophy2PLIN1 CL E G H5346613877Familial partial lipodystrophy 4613877C3151268OMIM1949076170290
HP:0003712HP:0040267Distal upper limb muscle hypertrophy2PLIN1 CL E G H5346613877Familial partial lipodystrophy 4613877C3151268OMIM1949076170290
HP:0003712HP:0040266Proximal upper limb muscle hypertrophy2PLIN1 CL E G H5346613877Familial partial lipodystrophy 4613877C3151268OMIM11029076170290
HP:0003712HP:0100875Hemimacroglossia2PLIN1 CL E G H5346613877Familial partial lipodystrophy 4613877C3151268OMIM11029076170290
HP:0003712HP:0040266Proximal upper limb muscle hypertrophy2PLIN1 CL E G H5346613877Familial partial lipodystrophy 4613877C3151268OMIM1949076170290
HP:0003712HP:0100875Hemimacroglossia2PLIN1 CL E G H5346613877Familial partial lipodystrophy 4613877C3151268OMIM1949076170290
HP:0003712HP:0030284Triangular tongue2PLIN1 CL E G H5346613877Familial partial lipodystrophy 4613877C3151268OMIM11029076170290
HP:0003712HP:0008981Calf muscle hypertrophy2PLIN1 CL E G H5346613877Familial partial lipodystrophy 4613877C3151268OMIM11029076170290
HP:0003712HP:0003733Thigh hypertrophy2PLIN1 CL E G H5346613877Familial partial lipodystrophy 4613877C3151268OMIM11029076170290
HP:0003712HP:0040267Distal upper limb muscle hypertrophy2PLIN1 CL E G H5346613877Familial partial lipodystrophy 4613877C3151268OMIM11029076170290
HP:0003712HP:0008981Calf muscle hypertrophy2POMGNT1 CL E G H55624613157Limb-girdle muscular dystrophy-dystroglycanopathy, type C3613157C3150417OMIM166219139606822
HP:0003712HP:0003733Thigh hypertrophy2POMGNT1 CL E G H55624613157Limb-girdle muscular dystrophy-dystroglycanopathy, type C3613157C3150417OMIM166219139606822
HP:0003712HP:0040267Distal upper limb muscle hypertrophy2POMGNT1 CL E G H55624613157Limb-girdle muscular dystrophy-dystroglycanopathy, type C3613157C3150417OMIM166219139606822
HP:0003712HP:0030284Triangular tongue2POMGNT1 CL E G H55624613157Limb-girdle muscular dystrophy-dystroglycanopathy, type C3613157C3150417OMIM166219139606822
HP:0003712HP:0040266Proximal upper limb muscle hypertrophy2POMGNT1 CL E G H55624613157Limb-girdle muscular dystrophy-dystroglycanopathy, type C3613157C3150417OMIM179719139606822
HP:0003712HP:0100875Hemimacroglossia2POMGNT1 CL E G H55624613157Limb-girdle muscular dystrophy-dystroglycanopathy, type C3613157C3150417OMIM179719139606822
HP:0003712HP:0040266Proximal upper limb muscle hypertrophy2POMGNT1 CL E G H55624613157Limb-girdle muscular dystrophy-dystroglycanopathy, type C3613157C3150417OMIM166219139606822
HP:0003712HP:0100875Hemimacroglossia2POMGNT1 CL E G H55624613157Limb-girdle muscular dystrophy-dystroglycanopathy, type C3613157C3150417OMIM166219139606822
HP:0003712HP:0008981Calf muscle hypertrophy2POMGNT1 CL E G H55624613157Limb-girdle muscular dystrophy-dystroglycanopathy, type C3613157C3150417OMIM179719139606822
HP:0003712HP:0003733Thigh hypertrophy2POMGNT1 CL E G H55624613157Limb-girdle muscular dystrophy-dystroglycanopathy, type C3613157C3150417OMIM179719139606822
HP:0003712HP:0040267Distal upper limb muscle hypertrophy2POMGNT1 CL E G H55624613157Limb-girdle muscular dystrophy-dystroglycanopathy, type C3613157C3150417OMIM179719139606822
HP:0003712HP:0030284Triangular tongue2POMGNT1 CL E G H55624613157Limb-girdle muscular dystrophy-dystroglycanopathy, type C3613157C3150417OMIM179719139606822
HP:0003712HP:0003733Thigh hypertrophy2POMT2 CL E G H29954613158Limb-girdle muscular dystrophy-dystroglycanopathy, type C2613158C3150418OMIM160419743607439
HP:0003712HP:0040267Distal upper limb muscle hypertrophy2POMT2 CL E G H29954613158Limb-girdle muscular dystrophy-dystroglycanopathy, type C2613158C3150418OMIM160419743607439
HP:0003712HP:0030284Triangular tongue2POMT2 CL E G H29954613158Limb-girdle muscular dystrophy-dystroglycanopathy, type C2613158C3150418OMIM160419743607439
HP:0003712HP:0008981Calf muscle hypertrophy2POMT2 CL E G H29954613158Limb-girdle muscular dystrophy-dystroglycanopathy, type C2613158C3150418OMIM160419743607439
HP:0003712HP:0040266Proximal upper limb muscle hypertrophy2POMT2 CL E G H29954613158Limb-girdle muscular dystrophy-dystroglycanopathy, type C2613158C3150418OMIM169119743607439
HP:0003712HP:0100875Hemimacroglossia2POMT2 CL E G H29954613158Limb-girdle muscular dystrophy-dystroglycanopathy, type C2613158C3150418OMIM169119743607439
HP:0003712HP:0040266Proximal upper limb muscle hypertrophy2POMT2 CL E G H29954613158Limb-girdle muscular dystrophy-dystroglycanopathy, type C2613158C3150418OMIM160419743607439
HP:0003712HP:0100875Hemimacroglossia2POMT2 CL E G H29954613158Limb-girdle muscular dystrophy-dystroglycanopathy, type C2613158C3150418OMIM160419743607439
HP:0003712HP:0003733Thigh hypertrophy2POMT2 CL E G H29954613158Limb-girdle muscular dystrophy-dystroglycanopathy, type C2613158C3150418OMIM169119743607439
HP:0003712HP:0040267Distal upper limb muscle hypertrophy2POMT2 CL E G H29954613158Limb-girdle muscular dystrophy-dystroglycanopathy, type C2613158C3150418OMIM169119743607439
HP:0003712HP:0030284Triangular tongue2POMT2 CL E G H29954613158Limb-girdle muscular dystrophy-dystroglycanopathy, type C2613158C3150418OMIM169119743607439
HP:0003712HP:0008981Calf muscle hypertrophy2POMT2 CL E G H29954613158Limb-girdle muscular dystrophy-dystroglycanopathy, type C2613158C3150418OMIM169119743607439
HP:0003712HP:0040267Distal upper limb muscle hypertrophy2PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA11249236601487
HP:0003712HP:0030284Triangular tongue2PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA11249236601487
HP:0003712HP:0008981Calf muscle hypertrophy2PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA11249236601487
HP:0003712HP:0003733Thigh hypertrophy2PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA11249236601487
HP:0003712HP:0040267Distal upper limb muscle hypertrophy2PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA11089236601487
HP:0003712HP:0030284Triangular tongue2PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA11089236601487
HP:0003712HP:0008981Calf muscle hypertrophy2PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA11089236601487
HP:0003712HP:0003733Thigh hypertrophy2PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA11089236601487
HP:0003712HP:0040266Proximal upper limb muscle hypertrophy2PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA11249236601487
HP:0003712HP:0100875Hemimacroglossia2PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA11249236601487
HP:0003712HP:0040266Proximal upper limb muscle hypertrophy2PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA11089236601487
HP:0003712HP:0100875Hemimacroglossia2PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA11089236601487
HP:0003712HP:0030284Triangular tongue2PRPS1 CL E G H563199014ORPHA13219462311850
HP:0003712HP:0008981Calf muscle hypertrophy2PRPS1 CL E G H563199014ORPHA13219462311850
HP:0003712HP:0003733Thigh hypertrophy2PRPS1 CL E G H563199014ORPHA13219462311850
HP:0003712HP:0040267Distal upper limb muscle hypertrophy2PRPS1 CL E G H563199014ORPHA13219462311850
HP:0003712HP:0008981Calf muscle hypertrophy2PRPS1 CL E G H563199014ORPHA13039462311850
HP:0003712HP:0003733Thigh hypertrophy2PRPS1 CL E G H563199014ORPHA13039462311850
HP:0003712HP:0040267Distal upper limb muscle hypertrophy2PRPS1 CL E G H563199014ORPHA13039462311850
HP:0003712HP:0030284Triangular tongue2PRPS1 CL E G H563199014ORPHA13039462311850
HP:0003712HP:0040266Proximal upper limb muscle hypertrophy2PRPS1 CL E G H563199014ORPHA13219462311850
HP:0003712HP:0100875Hemimacroglossia2PRPS1 CL E G H563199014ORPHA13219462311850
HP:0003712HP:0040266Proximal upper limb muscle hypertrophy2PRPS1 CL E G H563199014ORPHA13039462311850
HP:0003712HP:0100875Hemimacroglossia2PRPS1 CL E G H563199014ORPHA13039462311850
HP:0003712HP:0003733Thigh hypertrophy2SCN4A CL E G H6329168300Paramyotonia congenita of von Eulenburg168300C0221055OMIM1108110591603967
HP:0003712HP:0040267Distal upper limb muscle hypertrophy2SCN4A CL E G H6329168300Paramyotonia congenita of von Eulenburg168300C0221055OMIM1108110591603967
HP:0003712HP:0030284Triangular tongue2SCN4A CL E G H6329168300Paramyotonia congenita of von Eulenburg168300C0221055OMIM1108110591603967
HP:0003712HP:0008981Calf muscle hypertrophy2SCN4A CL E G H6329168300Paramyotonia congenita of von Eulenburg168300C0221055OMIM1108110591603967
HP:0003712HP:0040266Proximal upper limb muscle hypertrophy2SCN4A CL E G H6329168300Paramyotonia congenita of von Eulenburg168300C0221055OMIM1124110591603967
HP:0003712HP:0100875Hemimacroglossia2SCN4A CL E G H6329168300Paramyotonia congenita of von Eulenburg168300C0221055OMIM1124110591603967
HP:0003712HP:0040266Proximal upper limb muscle hypertrophy2SCN4A CL E G H6329168300Paramyotonia congenita of von Eulenburg168300C0221055OMIM1108110591603967
HP:0003712HP:0100875Hemimacroglossia2SCN4A CL E G H6329168300Paramyotonia congenita of von Eulenburg168300C0221055OMIM1108110591603967
HP:0003712HP:0003733Thigh hypertrophy2SCN4A CL E G H6329168300Paramyotonia congenita of von Eulenburg168300C0221055OMIM1124110591603967
HP:0003712HP:0040267Distal upper limb muscle hypertrophy2SCN4A CL E G H6329168300Paramyotonia congenita of von Eulenburg168300C0221055OMIM1124110591603967
HP:0003712HP:0030284Triangular tongue2SCN4A CL E G H6329168300Paramyotonia congenita of von Eulenburg168300C0221055OMIM1124110591603967
HP:0003712HP:0008981Calf muscle hypertrophy2SCN4A CL E G H6329168300Paramyotonia congenita of von Eulenburg168300C0221055OMIM1124110591603967
HP:0003712HP:0040267Distal upper limb muscle hypertrophy2SCN4A CL E G H6329608390Potassium aggravated myotonia608390C0752355OMIM1108110591603967
HP:0003712HP:0030284Triangular tongue2SCN4A CL E G H6329608390Potassium aggravated myotonia608390C0752355OMIM1108110591603967
HP:0003712HP:0008981Calf muscle hypertrophy2SCN4A CL E G H6329608390Potassium aggravated myotonia608390C0752355OMIM1108110591603967
HP:0003712HP:0003733Thigh hypertrophy2SCN4A CL E G H6329608390Potassium aggravated myotonia608390C0752355OMIM1108110591603967
HP:0003712HP:0040266Proximal upper limb muscle hypertrophy2SCN4A CL E G H6329608390Potassium aggravated myotonia608390C0752355OMIM1124110591603967
HP:0003712HP:0100875Hemimacroglossia2SCN4A CL E G H6329608390Potassium aggravated myotonia608390C0752355OMIM1124110591603967
HP:0003712HP:0040266Proximal upper limb muscle hypertrophy2SCN4A CL E G H6329608390Potassium aggravated myotonia608390C0752355OMIM1108110591603967
HP:0003712HP:0100875Hemimacroglossia2SCN4A CL E G H6329608390Potassium aggravated myotonia608390C0752355OMIM1108110591603967
HP:0003712HP:0040267Distal upper limb muscle hypertrophy2SCN4A CL E G H6329608390Potassium aggravated myotonia608390C0752355OMIM1124110591603967
HP:0003712HP:0030284Triangular tongue2SCN4A CL E G H6329608390Potassium aggravated myotonia608390C0752355OMIM1124110591603967
HP:0003712HP:0008981Calf muscle hypertrophy2SCN4A CL E G H6329608390Potassium aggravated myotonia608390C0752355OMIM1124110591603967
HP:0003712HP:0003733Thigh hypertrophy2SCN4A CL E G H6329608390Potassium aggravated myotonia608390C0752355OMIM1124110591603967
HP:0003712HP:0008981Calf muscle hypertrophy2SHOX CL E G H6473314795ORPHA126910853312865
HP:0003712HP:0003733Thigh hypertrophy2SHOX CL E G H6473314795ORPHA126910853312865
HP:0003712HP:0030284Triangular tongue2SHOX CL E G H6473