Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
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HPO disease - gene - phenotype typical associations: |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | AGPAT2 CL E G H | 10555 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 213 | 325 | 603100 |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | BSCL2 CL E G H | 26580 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 435 | 15832 | 606158 |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | CAV1 CL E G H | 857 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 115 | 1527 | 601047 |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | CAV3 CL E G H | 859 | 606072 | Rippling muscle disease | 606072 | C1853698 | OMIM | 1 | | 390 | 1529 | 601253 |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | CAVIN1 CL E G H | 284119 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 112 | 9688 | 603198 |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | CAVIN1 CL E G H | 284119 | 613327 | Lipodystrophy, congenital generalized, type 4 | 613327 | C2750069 | OMIM | 1 | | 112 | 9688 | 603198 |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | FKTN CL E G H | 2218 | 611588 | Limb-girdle muscular dystrophy-dystroglycanopathy, type C4 | 611588 | C1969040 | OMIM | 1 | | 783 | 3622 | 607440 |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | FOS CL E G H | 2353 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 29 | 3796 | 164810 |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | HSPG2 CL E G H | 3339 | 800 | | | | ORPHA | 1 | | 1830 | 5273 | 142461 |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | HSPG2 CL E G H | 3339 | 255800 | Schwartz Jampel syndrome type 1 | 255800 | C0036391 | OMIM | 1 | | 1830 | 5273 | 142461 |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | LMNA CL E G H | 4000 | 2348 | | | | ORPHA | 1 | | 1622 | 6636 | 150330 |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | LMNA CL E G H | 4000 | 151660 | Familial partial lipodystrophy 2 | 151660 | C1720860 | OMIM | 1 | | 1622 | 6636 | 150330 |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | MPZ CL E G H | 4359 | 101082 | | | | ORPHA | 1 | | 557 | 7225 | 159440 |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | MSTN CL E G H | 2660 | 614160 | Muscle hypertrophy | 614160 | C0236033 | OMIM | 1 | | 88 | 4223 | 601788 |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | PLIN1 CL E G H | 5346 | 613877 | Familial partial lipodystrophy 4 | 613877 | C3151268 | OMIM | 1 | | 101 | 9076 | 170290 |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | POMGNT1 CL E G H | 55624 | 613157 | Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 | 613157 | C3150417 | OMIM | 1 | | 943 | 19139 | 606822 |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | POMT2 CL E G H | 29954 | 613158 | Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 | 613158 | C3150418 | OMIM | 1 | | 766 | 19743 | 607439 |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | PPARG CL E G H | 5468 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 139 | 9236 | 601487 |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | PRPS1 CL E G H | 5631 | 99014 | | | | ORPHA | 1 | | 360 | 9462 | 311850 |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | SCN4A CL E G H | 6329 | 168300 | Paramyotonia congenita of von Eulenburg | 168300 | C0221055 | OMIM | 1 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | SCN4A CL E G H | 6329 | 608390 | Potassium aggravated myotonia | 608390 | C0752355 | OMIM | 1 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | SHOX CL E G H | 6473 | 314795 | | | | ORPHA | 1 | | 311 | 10853 | 312865 |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | SHOX CL E G H | 6473 | 127300 | Leri Weill dyschondrosteosis | 127300 | C0265309 | OMIM | 1 | | 311 | 10853 | 312865 |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | SMAD4 CL E G H | 4089 | 2588 | | | | ORPHA | 1 | | 1739 | 6770 | 600993 |
HP:0003712 | HP:0003720 | Generalized muscle hypertrophy | 1 | AGPAT2 CL E G H | 10555 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 213 | 325 | 603100 |
HP:0003712 | HP:0012895 | Scapular muscle hypertrophy | 1 | AGPAT2 CL E G H | 10555 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 213 | 325 | 603100 |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | AGPAT2 CL E G H | 10555 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 213 | 325 | 603100 |
HP:0003712 | HP:0012894 | Paraspinal muscle hypertrophy | 1 | AGPAT2 CL E G H | 10555 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 213 | 325 | 603100 |
HP:0003712 | HP:0000158 | Macroglossia | 1 | AGPAT2 CL E G H | 10555 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 213 | 325 | 603100 |
HP:0003712 | HP:0009042 | Marked muscular hypertrophy | 1 | AGPAT2 CL E G H | 10555 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 213 | 325 | 603100 |
HP:0003712 | HP:0012892 | Facial muscle hypertrophy | 1 | AGPAT2 CL E G H | 10555 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 213 | 325 | 603100 |
HP:0003712 | HP:0012893 | Neck muscle hypertrophy | 1 | AGPAT2 CL E G H | 10555 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 213 | 325 | 603100 |
HP:0003712 | HP:0040265 | Upper limb muscle hypertrophy | 1 | AGPAT2 CL E G H | 10555 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 213 | 325 | 603100 |
HP:0003712 | HP:0003720 | Generalized muscle hypertrophy | 1 | BSCL2 CL E G H | 26580 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 435 | 15832 | 606158 |
HP:0003712 | HP:0012895 | Scapular muscle hypertrophy | 1 | BSCL2 CL E G H | 26580 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 435 | 15832 | 606158 |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | BSCL2 CL E G H | 26580 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 435 | 15832 | 606158 |
HP:0003712 | HP:0000158 | Macroglossia | 1 | BSCL2 CL E G H | 26580 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 435 | 15832 | 606158 |
HP:0003712 | HP:0012894 | Paraspinal muscle hypertrophy | 1 | BSCL2 CL E G H | 26580 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 435 | 15832 | 606158 |
HP:0003712 | HP:0012892 | Facial muscle hypertrophy | 1 | BSCL2 CL E G H | 26580 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 435 | 15832 | 606158 |
HP:0003712 | HP:0012893 | Neck muscle hypertrophy | 1 | BSCL2 CL E G H | 26580 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 435 | 15832 | 606158 |
HP:0003712 | HP:0040265 | Upper limb muscle hypertrophy | 1 | BSCL2 CL E G H | 26580 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 435 | 15832 | 606158 |
HP:0003712 | HP:0009042 | Marked muscular hypertrophy | 1 | BSCL2 CL E G H | 26580 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 435 | 15832 | 606158 |
HP:0003712 | HP:0003720 | Generalized muscle hypertrophy | 1 | CAV1 CL E G H | 857 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 115 | 1527 | 601047 |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | CAV1 CL E G H | 857 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 115 | 1527 | 601047 |
HP:0003712 | HP:0012895 | Scapular muscle hypertrophy | 1 | CAV1 CL E G H | 857 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 115 | 1527 | 601047 |
HP:0003712 | HP:0000158 | Macroglossia | 1 | CAV1 CL E G H | 857 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 115 | 1527 | 601047 |
HP:0003712 | HP:0012894 | Paraspinal muscle hypertrophy | 1 | CAV1 CL E G H | 857 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 115 | 1527 | 601047 |
HP:0003712 | HP:0012892 | Facial muscle hypertrophy | 1 | CAV1 CL E G H | 857 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 115 | 1527 | 601047 |
HP:0003712 | HP:0012893 | Neck muscle hypertrophy | 1 | CAV1 CL E G H | 857 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 115 | 1527 | 601047 |
HP:0003712 | HP:0040265 | Upper limb muscle hypertrophy | 1 | CAV1 CL E G H | 857 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 115 | 1527 | 601047 |
HP:0003712 | HP:0009042 | Marked muscular hypertrophy | 1 | CAV1 CL E G H | 857 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 115 | 1527 | 601047 |
HP:0003712 | HP:0003720 | Generalized muscle hypertrophy | 1 | CAV3 CL E G H | 859 | 606072 | Rippling muscle disease | 606072 | C1853698 | OMIM | 1 | | 390 | 1529 | 601253 |
HP:0003712 | HP:0012895 | Scapular muscle hypertrophy | 1 | CAV3 CL E G H | 859 | 606072 | Rippling muscle disease | 606072 | C1853698 | OMIM | 1 | | 390 | 1529 | 601253 |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | CAV3 CL E G H | 859 | 606072 | Rippling muscle disease | 606072 | C1853698 | OMIM | 1 | | 390 | 1529 | 601253 |
HP:0003712 | HP:0012894 | Paraspinal muscle hypertrophy | 1 | CAV3 CL E G H | 859 | 606072 | Rippling muscle disease | 606072 | C1853698 | OMIM | 1 | | 390 | 1529 | 601253 |
HP:0003712 | HP:0000158 | Macroglossia | 1 | CAV3 CL E G H | 859 | 606072 | Rippling muscle disease | 606072 | C1853698 | OMIM | 1 | | 390 | 1529 | 601253 |
HP:0003712 | HP:0009042 | Marked muscular hypertrophy | 1 | CAV3 CL E G H | 859 | 606072 | Rippling muscle disease | 606072 | C1853698 | OMIM | 1 | | 390 | 1529 | 601253 |
HP:0003712 | HP:0012892 | Facial muscle hypertrophy | 1 | CAV3 CL E G H | 859 | 606072 | Rippling muscle disease | 606072 | C1853698 | OMIM | 1 | | 390 | 1529 | 601253 |
HP:0003712 | HP:0012893 | Neck muscle hypertrophy | 1 | CAV3 CL E G H | 859 | 606072 | Rippling muscle disease | 606072 | C1853698 | OMIM | 1 | | 390 | 1529 | 601253 |
HP:0003712 | HP:0040265 | Upper limb muscle hypertrophy | 1 | CAV3 CL E G H | 859 | 606072 | Rippling muscle disease | 606072 | C1853698 | OMIM | 1 | | 390 | 1529 | 601253 |
HP:0003712 | HP:0003720 | Generalized muscle hypertrophy | 1 | CAVIN1 CL E G H | 284119 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 112 | 9688 | 603198 |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | CAVIN1 CL E G H | 284119 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 112 | 9688 | 603198 |
HP:0003712 | HP:0012895 | Scapular muscle hypertrophy | 1 | CAVIN1 CL E G H | 284119 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 112 | 9688 | 603198 |
HP:0003712 | HP:0000158 | Macroglossia | 1 | CAVIN1 CL E G H | 284119 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 112 | 9688 | 603198 |
HP:0003712 | HP:0012894 | Paraspinal muscle hypertrophy | 1 | CAVIN1 CL E G H | 284119 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 112 | 9688 | 603198 |
HP:0003712 | HP:0012892 | Facial muscle hypertrophy | 1 | CAVIN1 CL E G H | 284119 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 112 | 9688 | 603198 |
HP:0003712 | HP:0012893 | Neck muscle hypertrophy | 1 | CAVIN1 CL E G H | 284119 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 112 | 9688 | 603198 |
HP:0003712 | HP:0040265 | Upper limb muscle hypertrophy | 1 | CAVIN1 CL E G H | 284119 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 112 | 9688 | 603198 |
HP:0003712 | HP:0009042 | Marked muscular hypertrophy | 1 | CAVIN1 CL E G H | 284119 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 112 | 9688 | 603198 |
HP:0003712 | HP:0003720 | Generalized muscle hypertrophy | 1 | CAVIN1 CL E G H | 284119 | 613327 | Lipodystrophy, congenital generalized, type 4 | 613327 | C2750069 | OMIM | 1 | | 112 | 9688 | 603198 |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | CAVIN1 CL E G H | 284119 | 613327 | Lipodystrophy, congenital generalized, type 4 | 613327 | C2750069 | OMIM | 1 | | 112 | 9688 | 603198 |
HP:0003712 | HP:0012895 | Scapular muscle hypertrophy | 1 | CAVIN1 CL E G H | 284119 | 613327 | Lipodystrophy, congenital generalized, type 4 | 613327 | C2750069 | OMIM | 1 | | 112 | 9688 | 603198 |
HP:0003712 | HP:0012894 | Paraspinal muscle hypertrophy | 1 | CAVIN1 CL E G H | 284119 | 613327 | Lipodystrophy, congenital generalized, type 4 | 613327 | C2750069 | OMIM | 1 | | 112 | 9688 | 603198 |
HP:0003712 | HP:0000158 | Macroglossia | 1 | CAVIN1 CL E G H | 284119 | 613327 | Lipodystrophy, congenital generalized, type 4 | 613327 | C2750069 | OMIM | 1 | | 112 | 9688 | 603198 |
HP:0003712 | HP:0012893 | Neck muscle hypertrophy | 1 | CAVIN1 CL E G H | 284119 | 613327 | Lipodystrophy, congenital generalized, type 4 | 613327 | C2750069 | OMIM | 1 | | 112 | 9688 | 603198 |
HP:0003712 | HP:0040265 | Upper limb muscle hypertrophy | 1 | CAVIN1 CL E G H | 284119 | 613327 | Lipodystrophy, congenital generalized, type 4 | 613327 | C2750069 | OMIM | 1 | | 112 | 9688 | 603198 |
HP:0003712 | HP:0009042 | Marked muscular hypertrophy | 1 | CAVIN1 CL E G H | 284119 | 613327 | Lipodystrophy, congenital generalized, type 4 | 613327 | C2750069 | OMIM | 1 | | 112 | 9688 | 603198 |
HP:0003712 | HP:0012892 | Facial muscle hypertrophy | 1 | CAVIN1 CL E G H | 284119 | 613327 | Lipodystrophy, congenital generalized, type 4 | 613327 | C2750069 | OMIM | 1 | | 112 | 9688 | 603198 |
HP:0003712 | HP:0003720 | Generalized muscle hypertrophy | 1 | FKTN CL E G H | 2218 | 611588 | Limb-girdle muscular dystrophy-dystroglycanopathy, type C4 | 611588 | C1969040 | OMIM | 1 | | 783 | 3622 | 607440 |
HP:0003712 | HP:0012895 | Scapular muscle hypertrophy | 1 | FKTN CL E G H | 2218 | 611588 | Limb-girdle muscular dystrophy-dystroglycanopathy, type C4 | 611588 | C1969040 | OMIM | 1 | | 783 | 3622 | 607440 |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | FKTN CL E G H | 2218 | 611588 | Limb-girdle muscular dystrophy-dystroglycanopathy, type C4 | 611588 | C1969040 | OMIM | 1 | | 783 | 3622 | 607440 |
HP:0003712 | HP:0000158 | Macroglossia | 1 | FKTN CL E G H | 2218 | 611588 | Limb-girdle muscular dystrophy-dystroglycanopathy, type C4 | 611588 | C1969040 | OMIM | 1 | | 783 | 3622 | 607440 |
HP:0003712 | HP:0012894 | Paraspinal muscle hypertrophy | 1 | FKTN CL E G H | 2218 | 611588 | Limb-girdle muscular dystrophy-dystroglycanopathy, type C4 | 611588 | C1969040 | OMIM | 1 | | 783 | 3622 | 607440 |
HP:0003712 | HP:0012892 | Facial muscle hypertrophy | 1 | FKTN CL E G H | 2218 | 611588 | Limb-girdle muscular dystrophy-dystroglycanopathy, type C4 | 611588 | C1969040 | OMIM | 1 | | 783 | 3622 | 607440 |
HP:0003712 | HP:0012893 | Neck muscle hypertrophy | 1 | FKTN CL E G H | 2218 | 611588 | Limb-girdle muscular dystrophy-dystroglycanopathy, type C4 | 611588 | C1969040 | OMIM | 1 | | 783 | 3622 | 607440 |
HP:0003712 | HP:0040265 | Upper limb muscle hypertrophy | 1 | FKTN CL E G H | 2218 | 611588 | Limb-girdle muscular dystrophy-dystroglycanopathy, type C4 | 611588 | C1969040 | OMIM | 1 | | 783 | 3622 | 607440 |
HP:0003712 | HP:0009042 | Marked muscular hypertrophy | 1 | FKTN CL E G H | 2218 | 611588 | Limb-girdle muscular dystrophy-dystroglycanopathy, type C4 | 611588 | C1969040 | OMIM | 1 | | 783 | 3622 | 607440 |
HP:0003712 | HP:0003720 | Generalized muscle hypertrophy | 1 | FOS CL E G H | 2353 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 29 | 3796 | 164810 |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | FOS CL E G H | 2353 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 29 | 3796 | 164810 |
HP:0003712 | HP:0012895 | Scapular muscle hypertrophy | 1 | FOS CL E G H | 2353 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 29 | 3796 | 164810 |
HP:0003712 | HP:0012894 | Paraspinal muscle hypertrophy | 1 | FOS CL E G H | 2353 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 29 | 3796 | 164810 |
HP:0003712 | HP:0000158 | Macroglossia | 1 | FOS CL E G H | 2353 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 29 | 3796 | 164810 |
HP:0003712 | HP:0012893 | Neck muscle hypertrophy | 1 | FOS CL E G H | 2353 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 29 | 3796 | 164810 |
HP:0003712 | HP:0040265 | Upper limb muscle hypertrophy | 1 | FOS CL E G H | 2353 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 29 | 3796 | 164810 |
HP:0003712 | HP:0009042 | Marked muscular hypertrophy | 1 | FOS CL E G H | 2353 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 29 | 3796 | 164810 |
HP:0003712 | HP:0012892 | Facial muscle hypertrophy | 1 | FOS CL E G H | 2353 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 29 | 3796 | 164810 |
HP:0003712 | HP:0003720 | Generalized muscle hypertrophy | 1 | HSPG2 CL E G H | 3339 | 800 | | | | ORPHA | 1 | | 1830 | 5273 | 142461 |
HP:0003712 | HP:0012895 | Scapular muscle hypertrophy | 1 | HSPG2 CL E G H | 3339 | 800 | | | | ORPHA | 1 | | 1830 | 5273 | 142461 |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | HSPG2 CL E G H | 3339 | 800 | | | | ORPHA | 1 | | 1830 | 5273 | 142461 |
HP:0003712 | HP:0012894 | Paraspinal muscle hypertrophy | 1 | HSPG2 CL E G H | 3339 | 800 | | | | ORPHA | 1 | | 1830 | 5273 | 142461 |
HP:0003712 | HP:0000158 | Macroglossia | 1 | HSPG2 CL E G H | 3339 | 800 | | | | ORPHA | 1 | | 1830 | 5273 | 142461 |
HP:0003712 | HP:0009042 | Marked muscular hypertrophy | 1 | HSPG2 CL E G H | 3339 | 800 | | | | ORPHA | 1 | | 1830 | 5273 | 142461 |
HP:0003712 | HP:0012892 | Facial muscle hypertrophy | 1 | HSPG2 CL E G H | 3339 | 800 | | | | ORPHA | 1 | | 1830 | 5273 | 142461 |
HP:0003712 | HP:0012893 | Neck muscle hypertrophy | 1 | HSPG2 CL E G H | 3339 | 800 | | | | ORPHA | 1 | | 1830 | 5273 | 142461 |
HP:0003712 | HP:0040265 | Upper limb muscle hypertrophy | 1 | HSPG2 CL E G H | 3339 | 800 | | | | ORPHA | 1 | | 1830 | 5273 | 142461 |
HP:0003712 | HP:0003720 | Generalized muscle hypertrophy | 1 | HSPG2 CL E G H | 3339 | 255800 | Schwartz Jampel syndrome type 1 | 255800 | C0036391 | OMIM | 1 | | 1830 | 5273 | 142461 |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | HSPG2 CL E G H | 3339 | 255800 | Schwartz Jampel syndrome type 1 | 255800 | C0036391 | OMIM | 1 | | 1830 | 5273 | 142461 |
HP:0003712 | HP:0012895 | Scapular muscle hypertrophy | 1 | HSPG2 CL E G H | 3339 | 255800 | Schwartz Jampel syndrome type 1 | 255800 | C0036391 | OMIM | 1 | | 1830 | 5273 | 142461 |
HP:0003712 | HP:0012894 | Paraspinal muscle hypertrophy | 1 | HSPG2 CL E G H | 3339 | 255800 | Schwartz Jampel syndrome type 1 | 255800 | C0036391 | OMIM | 1 | | 1830 | 5273 | 142461 |
HP:0003712 | HP:0000158 | Macroglossia | 1 | HSPG2 CL E G H | 3339 | 255800 | Schwartz Jampel syndrome type 1 | 255800 | C0036391 | OMIM | 1 | | 1830 | 5273 | 142461 |
HP:0003712 | HP:0040265 | Upper limb muscle hypertrophy | 1 | HSPG2 CL E G H | 3339 | 255800 | Schwartz Jampel syndrome type 1 | 255800 | C0036391 | OMIM | 1 | | 1830 | 5273 | 142461 |
HP:0003712 | HP:0009042 | Marked muscular hypertrophy | 1 | HSPG2 CL E G H | 3339 | 255800 | Schwartz Jampel syndrome type 1 | 255800 | C0036391 | OMIM | 1 | | 1830 | 5273 | 142461 |
HP:0003712 | HP:0012892 | Facial muscle hypertrophy | 1 | HSPG2 CL E G H | 3339 | 255800 | Schwartz Jampel syndrome type 1 | 255800 | C0036391 | OMIM | 1 | | 1830 | 5273 | 142461 |
HP:0003712 | HP:0012893 | Neck muscle hypertrophy | 1 | HSPG2 CL E G H | 3339 | 255800 | Schwartz Jampel syndrome type 1 | 255800 | C0036391 | OMIM | 1 | | 1830 | 5273 | 142461 |
HP:0003712 | HP:0003720 | Generalized muscle hypertrophy | 1 | LMNA CL E G H | 4000 | 2348 | | | | ORPHA | 1 | | 1622 | 6636 | 150330 |
HP:0003712 | HP:0012895 | Scapular muscle hypertrophy | 1 | LMNA CL E G H | 4000 | 2348 | | | | ORPHA | 1 | | 1622 | 6636 | 150330 |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | LMNA CL E G H | 4000 | 2348 | | | | ORPHA | 1 | | 1622 | 6636 | 150330 |
HP:0003712 | HP:0000158 | Macroglossia | 1 | LMNA CL E G H | 4000 | 2348 | | | | ORPHA | 1 | | 1622 | 6636 | 150330 |
HP:0003712 | HP:0012894 | Paraspinal muscle hypertrophy | 1 | LMNA CL E G H | 4000 | 2348 | | | | ORPHA | 1 | | 1622 | 6636 | 150330 |
HP:0003712 | HP:0012892 | Facial muscle hypertrophy | 1 | LMNA CL E G H | 4000 | 2348 | | | | ORPHA | 1 | | 1622 | 6636 | 150330 |
HP:0003712 | HP:0012893 | Neck muscle hypertrophy | 1 | LMNA CL E G H | 4000 | 2348 | | | | ORPHA | 1 | | 1622 | 6636 | 150330 |
HP:0003712 | HP:0040265 | Upper limb muscle hypertrophy | 1 | LMNA CL E G H | 4000 | 2348 | | | | ORPHA | 1 | | 1622 | 6636 | 150330 |
HP:0003712 | HP:0009042 | Marked muscular hypertrophy | 1 | LMNA CL E G H | 4000 | 2348 | | | | ORPHA | 1 | | 1622 | 6636 | 150330 |
HP:0003712 | HP:0003720 | Generalized muscle hypertrophy | 1 | LMNA CL E G H | 4000 | 151660 | Familial partial lipodystrophy 2 | 151660 | C1720860 | OMIM | 1 | | 1622 | 6636 | 150330 |
HP:0003712 | HP:0012895 | Scapular muscle hypertrophy | 1 | LMNA CL E G H | 4000 | 151660 | Familial partial lipodystrophy 2 | 151660 | C1720860 | OMIM | 1 | | 1622 | 6636 | 150330 |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | LMNA CL E G H | 4000 | 151660 | Familial partial lipodystrophy 2 | 151660 | C1720860 | OMIM | 1 | | 1622 | 6636 | 150330 |
HP:0003712 | HP:0012894 | Paraspinal muscle hypertrophy | 1 | LMNA CL E G H | 4000 | 151660 | Familial partial lipodystrophy 2 | 151660 | C1720860 | OMIM | 1 | | 1622 | 6636 | 150330 |
HP:0003712 | HP:0000158 | Macroglossia | 1 | LMNA CL E G H | 4000 | 151660 | Familial partial lipodystrophy 2 | 151660 | C1720860 | OMIM | 1 | | 1622 | 6636 | 150330 |
HP:0003712 | HP:0009042 | Marked muscular hypertrophy | 1 | LMNA CL E G H | 4000 | 151660 | Familial partial lipodystrophy 2 | 151660 | C1720860 | OMIM | 1 | | 1622 | 6636 | 150330 |
HP:0003712 | HP:0012892 | Facial muscle hypertrophy | 1 | LMNA CL E G H | 4000 | 151660 | Familial partial lipodystrophy 2 | 151660 | C1720860 | OMIM | 1 | | 1622 | 6636 | 150330 |
HP:0003712 | HP:0012893 | Neck muscle hypertrophy | 1 | LMNA CL E G H | 4000 | 151660 | Familial partial lipodystrophy 2 | 151660 | C1720860 | OMIM | 1 | | 1622 | 6636 | 150330 |
HP:0003712 | HP:0040265 | Upper limb muscle hypertrophy | 1 | LMNA CL E G H | 4000 | 151660 | Familial partial lipodystrophy 2 | 151660 | C1720860 | OMIM | 1 | | 1622 | 6636 | 150330 |
HP:0003712 | HP:0009042 | Marked muscular hypertrophy | 1 | MPZ CL E G H | 4359 | 101082 | | | | ORPHA | 1 | | 557 | 7225 | 159440 |
HP:0003712 | HP:0003720 | Generalized muscle hypertrophy | 1 | MPZ CL E G H | 4359 | 101082 | | | | ORPHA | 1 | | 557 | 7225 | 159440 |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | MPZ CL E G H | 4359 | 101082 | | | | ORPHA | 1 | | 557 | 7225 | 159440 |
HP:0003712 | HP:0012895 | Scapular muscle hypertrophy | 1 | MPZ CL E G H | 4359 | 101082 | | | | ORPHA | 1 | | 557 | 7225 | 159440 |
HP:0003712 | HP:0000158 | Macroglossia | 1 | MPZ CL E G H | 4359 | 101082 | | | | ORPHA | 1 | | 557 | 7225 | 159440 |
HP:0003712 | HP:0012894 | Paraspinal muscle hypertrophy | 1 | MPZ CL E G H | 4359 | 101082 | | | | ORPHA | 1 | | 557 | 7225 | 159440 |
HP:0003712 | HP:0040265 | Upper limb muscle hypertrophy | 1 | MPZ CL E G H | 4359 | 101082 | | | | ORPHA | 1 | | 557 | 7225 | 159440 |
HP:0003712 | HP:0012892 | Facial muscle hypertrophy | 1 | MPZ CL E G H | 4359 | 101082 | | | | ORPHA | 1 | | 557 | 7225 | 159440 |
HP:0003712 | HP:0012893 | Neck muscle hypertrophy | 1 | MPZ CL E G H | 4359 | 101082 | | | | ORPHA | 1 | | 557 | 7225 | 159440 |
HP:0003712 | HP:0003720 | Generalized muscle hypertrophy | 1 | MSTN CL E G H | 2660 | 614160 | Muscle hypertrophy | 614160 | C0236033 | OMIM | 1 | | 88 | 4223 | 601788 |
HP:0003712 | HP:0012895 | Scapular muscle hypertrophy | 1 | MSTN CL E G H | 2660 | 614160 | Muscle hypertrophy | 614160 | C0236033 | OMIM | 1 | | 88 | 4223 | 601788 |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | MSTN CL E G H | 2660 | 614160 | Muscle hypertrophy | 614160 | C0236033 | OMIM | 1 | | 88 | 4223 | 601788 |
HP:0003712 | HP:0012894 | Paraspinal muscle hypertrophy | 1 | MSTN CL E G H | 2660 | 614160 | Muscle hypertrophy | 614160 | C0236033 | OMIM | 1 | | 88 | 4223 | 601788 |
HP:0003712 | HP:0000158 | Macroglossia | 1 | MSTN CL E G H | 2660 | 614160 | Muscle hypertrophy | 614160 | C0236033 | OMIM | 1 | | 88 | 4223 | 601788 |
HP:0003712 | HP:0009042 | Marked muscular hypertrophy | 1 | MSTN CL E G H | 2660 | 614160 | Muscle hypertrophy | 614160 | C0236033 | OMIM | 1 | | 88 | 4223 | 601788 |
HP:0003712 | HP:0012892 | Facial muscle hypertrophy | 1 | MSTN CL E G H | 2660 | 614160 | Muscle hypertrophy | 614160 | C0236033 | OMIM | 1 | | 88 | 4223 | 601788 |
HP:0003712 | HP:0012893 | Neck muscle hypertrophy | 1 | MSTN CL E G H | 2660 | 614160 | Muscle hypertrophy | 614160 | C0236033 | OMIM | 1 | | 88 | 4223 | 601788 |
HP:0003712 | HP:0040265 | Upper limb muscle hypertrophy | 1 | MSTN CL E G H | 2660 | 614160 | Muscle hypertrophy | 614160 | C0236033 | OMIM | 1 | | 88 | 4223 | 601788 |
HP:0003712 | HP:0003720 | Generalized muscle hypertrophy | 1 | PLIN1 CL E G H | 5346 | 613877 | Familial partial lipodystrophy 4 | 613877 | C3151268 | OMIM | 1 | | 101 | 9076 | 170290 |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | PLIN1 CL E G H | 5346 | 613877 | Familial partial lipodystrophy 4 | 613877 | C3151268 | OMIM | 1 | | 101 | 9076 | 170290 |
HP:0003712 | HP:0012895 | Scapular muscle hypertrophy | 1 | PLIN1 CL E G H | 5346 | 613877 | Familial partial lipodystrophy 4 | 613877 | C3151268 | OMIM | 1 | | 101 | 9076 | 170290 |
HP:0003712 | HP:0012894 | Paraspinal muscle hypertrophy | 1 | PLIN1 CL E G H | 5346 | 613877 | Familial partial lipodystrophy 4 | 613877 | C3151268 | OMIM | 1 | | 101 | 9076 | 170290 |
HP:0003712 | HP:0000158 | Macroglossia | 1 | PLIN1 CL E G H | 5346 | 613877 | Familial partial lipodystrophy 4 | 613877 | C3151268 | OMIM | 1 | | 101 | 9076 | 170290 |
HP:0003712 | HP:0040265 | Upper limb muscle hypertrophy | 1 | PLIN1 CL E G H | 5346 | 613877 | Familial partial lipodystrophy 4 | 613877 | C3151268 | OMIM | 1 | | 101 | 9076 | 170290 |
HP:0003712 | HP:0009042 | Marked muscular hypertrophy | 1 | PLIN1 CL E G H | 5346 | 613877 | Familial partial lipodystrophy 4 | 613877 | C3151268 | OMIM | 1 | | 101 | 9076 | 170290 |
HP:0003712 | HP:0012892 | Facial muscle hypertrophy | 1 | PLIN1 CL E G H | 5346 | 613877 | Familial partial lipodystrophy 4 | 613877 | C3151268 | OMIM | 1 | | 101 | 9076 | 170290 |
HP:0003712 | HP:0012893 | Neck muscle hypertrophy | 1 | PLIN1 CL E G H | 5346 | 613877 | Familial partial lipodystrophy 4 | 613877 | C3151268 | OMIM | 1 | | 101 | 9076 | 170290 |
HP:0003712 | HP:0003720 | Generalized muscle hypertrophy | 1 | POMGNT1 CL E G H | 55624 | 613157 | Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 | 613157 | C3150417 | OMIM | 1 | | 943 | 19139 | 606822 |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | POMGNT1 CL E G H | 55624 | 613157 | Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 | 613157 | C3150417 | OMIM | 1 | | 943 | 19139 | 606822 |
HP:0003712 | HP:0012895 | Scapular muscle hypertrophy | 1 | POMGNT1 CL E G H | 55624 | 613157 | Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 | 613157 | C3150417 | OMIM | 1 | | 943 | 19139 | 606822 |
HP:0003712 | HP:0000158 | Macroglossia | 1 | POMGNT1 CL E G H | 55624 | 613157 | Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 | 613157 | C3150417 | OMIM | 1 | | 943 | 19139 | 606822 |
HP:0003712 | HP:0012894 | Paraspinal muscle hypertrophy | 1 | POMGNT1 CL E G H | 55624 | 613157 | Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 | 613157 | C3150417 | OMIM | 1 | | 943 | 19139 | 606822 |
HP:0003712 | HP:0012892 | Facial muscle hypertrophy | 1 | POMGNT1 CL E G H | 55624 | 613157 | Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 | 613157 | C3150417 | OMIM | 1 | | 943 | 19139 | 606822 |
HP:0003712 | HP:0012893 | Neck muscle hypertrophy | 1 | POMGNT1 CL E G H | 55624 | 613157 | Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 | 613157 | C3150417 | OMIM | 1 | | 943 | 19139 | 606822 |
HP:0003712 | HP:0040265 | Upper limb muscle hypertrophy | 1 | POMGNT1 CL E G H | 55624 | 613157 | Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 | 613157 | C3150417 | OMIM | 1 | | 943 | 19139 | 606822 |
HP:0003712 | HP:0009042 | Marked muscular hypertrophy | 1 | POMGNT1 CL E G H | 55624 | 613157 | Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 | 613157 | C3150417 | OMIM | 1 | | 943 | 19139 | 606822 |
HP:0003712 | HP:0003720 | Generalized muscle hypertrophy | 1 | POMT2 CL E G H | 29954 | 613158 | Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 | 613158 | C3150418 | OMIM | 1 | | 766 | 19743 | 607439 |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | POMT2 CL E G H | 29954 | 613158 | Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 | 613158 | C3150418 | OMIM | 1 | | 766 | 19743 | 607439 |
HP:0003712 | HP:0012895 | Scapular muscle hypertrophy | 1 | POMT2 CL E G H | 29954 | 613158 | Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 | 613158 | C3150418 | OMIM | 1 | | 766 | 19743 | 607439 |
HP:0003712 | HP:0000158 | Macroglossia | 1 | POMT2 CL E G H | 29954 | 613158 | Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 | 613158 | C3150418 | OMIM | 1 | | 766 | 19743 | 607439 |
HP:0003712 | HP:0012894 | Paraspinal muscle hypertrophy | 1 | POMT2 CL E G H | 29954 | 613158 | Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 | 613158 | C3150418 | OMIM | 1 | | 766 | 19743 | 607439 |
HP:0003712 | HP:0012893 | Neck muscle hypertrophy | 1 | POMT2 CL E G H | 29954 | 613158 | Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 | 613158 | C3150418 | OMIM | 1 | | 766 | 19743 | 607439 |
HP:0003712 | HP:0040265 | Upper limb muscle hypertrophy | 1 | POMT2 CL E G H | 29954 | 613158 | Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 | 613158 | C3150418 | OMIM | 1 | | 766 | 19743 | 607439 |
HP:0003712 | HP:0009042 | Marked muscular hypertrophy | 1 | POMT2 CL E G H | 29954 | 613158 | Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 | 613158 | C3150418 | OMIM | 1 | | 766 | 19743 | 607439 |
HP:0003712 | HP:0012892 | Facial muscle hypertrophy | 1 | POMT2 CL E G H | 29954 | 613158 | Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 | 613158 | C3150418 | OMIM | 1 | | 766 | 19743 | 607439 |
HP:0003712 | HP:0003720 | Generalized muscle hypertrophy | 1 | PPARG CL E G H | 5468 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 139 | 9236 | 601487 |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | PPARG CL E G H | 5468 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 139 | 9236 | 601487 |
HP:0003712 | HP:0012895 | Scapular muscle hypertrophy | 1 | PPARG CL E G H | 5468 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 139 | 9236 | 601487 |
HP:0003712 | HP:0012894 | Paraspinal muscle hypertrophy | 1 | PPARG CL E G H | 5468 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 139 | 9236 | 601487 |
HP:0003712 | HP:0000158 | Macroglossia | 1 | PPARG CL E G H | 5468 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 139 | 9236 | 601487 |
HP:0003712 | HP:0040265 | Upper limb muscle hypertrophy | 1 | PPARG CL E G H | 5468 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 139 | 9236 | 601487 |
HP:0003712 | HP:0009042 | Marked muscular hypertrophy | 1 | PPARG CL E G H | 5468 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 139 | 9236 | 601487 |
HP:0003712 | HP:0012892 | Facial muscle hypertrophy | 1 | PPARG CL E G H | 5468 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 139 | 9236 | 601487 |
HP:0003712 | HP:0012893 | Neck muscle hypertrophy | 1 | PPARG CL E G H | 5468 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 139 | 9236 | 601487 |
HP:0003712 | HP:0003720 | Generalized muscle hypertrophy | 1 | PRPS1 CL E G H | 5631 | 99014 | | | | ORPHA | 1 | | 360 | 9462 | 311850 |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | PRPS1 CL E G H | 5631 | 99014 | | | | ORPHA | 1 | | 360 | 9462 | 311850 |
HP:0003712 | HP:0012895 | Scapular muscle hypertrophy | 1 | PRPS1 CL E G H | 5631 | 99014 | | | | ORPHA | 1 | | 360 | 9462 | 311850 |
HP:0003712 | HP:0000158 | Macroglossia | 1 | PRPS1 CL E G H | 5631 | 99014 | | | | ORPHA | 1 | | 360 | 9462 | 311850 |
HP:0003712 | HP:0012894 | Paraspinal muscle hypertrophy | 1 | PRPS1 CL E G H | 5631 | 99014 | | | | ORPHA | 1 | | 360 | 9462 | 311850 |
HP:0003712 | HP:0012892 | Facial muscle hypertrophy | 1 | PRPS1 CL E G H | 5631 | 99014 | | | | ORPHA | 1 | | 360 | 9462 | 311850 |
HP:0003712 | HP:0012893 | Neck muscle hypertrophy | 1 | PRPS1 CL E G H | 5631 | 99014 | | | | ORPHA | 1 | | 360 | 9462 | 311850 |
HP:0003712 | HP:0040265 | Upper limb muscle hypertrophy | 1 | PRPS1 CL E G H | 5631 | 99014 | | | | ORPHA | 1 | | 360 | 9462 | 311850 |
HP:0003712 | HP:0009042 | Marked muscular hypertrophy | 1 | PRPS1 CL E G H | 5631 | 99014 | | | | ORPHA | 1 | | 360 | 9462 | 311850 |
HP:0003712 | HP:0003720 | Generalized muscle hypertrophy | 1 | SCN4A CL E G H | 6329 | 168300 | Paramyotonia congenita of von Eulenburg | 168300 | C0221055 | OMIM | 1 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | SCN4A CL E G H | 6329 | 168300 | Paramyotonia congenita of von Eulenburg | 168300 | C0221055 | OMIM | 1 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0012895 | Scapular muscle hypertrophy | 1 | SCN4A CL E G H | 6329 | 168300 | Paramyotonia congenita of von Eulenburg | 168300 | C0221055 | OMIM | 1 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0000158 | Macroglossia | 1 | SCN4A CL E G H | 6329 | 168300 | Paramyotonia congenita of von Eulenburg | 168300 | C0221055 | OMIM | 1 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0012894 | Paraspinal muscle hypertrophy | 1 | SCN4A CL E G H | 6329 | 168300 | Paramyotonia congenita of von Eulenburg | 168300 | C0221055 | OMIM | 1 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0012893 | Neck muscle hypertrophy | 1 | SCN4A CL E G H | 6329 | 168300 | Paramyotonia congenita of von Eulenburg | 168300 | C0221055 | OMIM | 1 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0040265 | Upper limb muscle hypertrophy | 1 | SCN4A CL E G H | 6329 | 168300 | Paramyotonia congenita of von Eulenburg | 168300 | C0221055 | OMIM | 1 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0009042 | Marked muscular hypertrophy | 1 | SCN4A CL E G H | 6329 | 168300 | Paramyotonia congenita of von Eulenburg | 168300 | C0221055 | OMIM | 1 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0012892 | Facial muscle hypertrophy | 1 | SCN4A CL E G H | 6329 | 168300 | Paramyotonia congenita of von Eulenburg | 168300 | C0221055 | OMIM | 1 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0003720 | Generalized muscle hypertrophy | 1 | SCN4A CL E G H | 6329 | 608390 | Potassium aggravated myotonia | 608390 | C0752355 | OMIM | 1 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0012895 | Scapular muscle hypertrophy | 1 | SCN4A CL E G H | 6329 | 608390 | Potassium aggravated myotonia | 608390 | C0752355 | OMIM | 1 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | SCN4A CL E G H | 6329 | 608390 | Potassium aggravated myotonia | 608390 | C0752355 | OMIM | 1 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0012894 | Paraspinal muscle hypertrophy | 1 | SCN4A CL E G H | 6329 | 608390 | Potassium aggravated myotonia | 608390 | C0752355 | OMIM | 1 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0000158 | Macroglossia | 1 | SCN4A CL E G H | 6329 | 608390 | Potassium aggravated myotonia | 608390 | C0752355 | OMIM | 1 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0009042 | Marked muscular hypertrophy | 1 | SCN4A CL E G H | 6329 | 608390 | Potassium aggravated myotonia | 608390 | C0752355 | OMIM | 1 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0012892 | Facial muscle hypertrophy | 1 | SCN4A CL E G H | 6329 | 608390 | Potassium aggravated myotonia | 608390 | C0752355 | OMIM | 1 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0012893 | Neck muscle hypertrophy | 1 | SCN4A CL E G H | 6329 | 608390 | Potassium aggravated myotonia | 608390 | C0752355 | OMIM | 1 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0040265 | Upper limb muscle hypertrophy | 1 | SCN4A CL E G H | 6329 | 608390 | Potassium aggravated myotonia | 608390 | C0752355 | OMIM | 1 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0009042 | Marked muscular hypertrophy | 1 | SHOX CL E G H | 6473 | 314795 | | | | ORPHA | 1 | | 311 | 10853 | 312865 |
HP:0003712 | HP:0012892 | Facial muscle hypertrophy | 1 | SHOX CL E G H | 6473 | 314795 | | | | ORPHA | 1 | | 311 | 10853 | 312865 |
HP:0003712 | HP:0012893 | Neck muscle hypertrophy | 1 | SHOX CL E G H | 6473 | 314795 | | | | ORPHA | 1 | | 311 | 10853 | 312865 |
HP:0003712 | HP:0040265 | Upper limb muscle hypertrophy | 1 | SHOX CL E G H | 6473 | 314795 | | | | ORPHA | 1 | | 311 | 10853 | 312865 |
HP:0003712 | HP:0003720 | Generalized muscle hypertrophy | 1 | SHOX CL E G H | 6473 | 314795 | | | | ORPHA | 1 | | 311 | 10853 | 312865 |
HP:0003712 | HP:0012895 | Scapular muscle hypertrophy | 1 | SHOX CL E G H | 6473 | 314795 | | | | ORPHA | 1 | | 311 | 10853 | 312865 |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | SHOX CL E G H | 6473 | 314795 | | | | ORPHA | 1 | | 311 | 10853 | 312865 |
HP:0003712 | HP:0012894 | Paraspinal muscle hypertrophy | 1 | SHOX CL E G H | 6473 | 314795 | | | | ORPHA | 1 | | 311 | 10853 | 312865 |
HP:0003712 | HP:0000158 | Macroglossia | 1 | SHOX CL E G H | 6473 | 314795 | | | | ORPHA | 1 | | 311 | 10853 | 312865 |
HP:0003712 | HP:0003720 | Generalized muscle hypertrophy | 1 | SHOX CL E G H | 6473 | 127300 | Leri Weill dyschondrosteosis | 127300 | C0265309 | OMIM | 1 | | 311 | 10853 | 312865 |
HP:0003712 | HP:0012895 | Scapular muscle hypertrophy | 1 | SHOX CL E G H | 6473 | 127300 | Leri Weill dyschondrosteosis | 127300 | C0265309 | OMIM | 1 | | 311 | 10853 | 312865 |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | SHOX CL E G H | 6473 | 127300 | Leri Weill dyschondrosteosis | 127300 | C0265309 | OMIM | 1 | | 311 | 10853 | 312865 |
HP:0003712 | HP:0012894 | Paraspinal muscle hypertrophy | 1 | SHOX CL E G H | 6473 | 127300 | Leri Weill dyschondrosteosis | 127300 | C0265309 | OMIM | 1 | | 311 | 10853 | 312865 |
HP:0003712 | HP:0000158 | Macroglossia | 1 | SHOX CL E G H | 6473 | 127300 | Leri Weill dyschondrosteosis | 127300 | C0265309 | OMIM | 1 | | 311 | 10853 | 312865 |
HP:0003712 | HP:0040265 | Upper limb muscle hypertrophy | 1 | SHOX CL E G H | 6473 | 127300 | Leri Weill dyschondrosteosis | 127300 | C0265309 | OMIM | 1 | | 311 | 10853 | 312865 |
HP:0003712 | HP:0009042 | Marked muscular hypertrophy | 1 | SHOX CL E G H | 6473 | 127300 | Leri Weill dyschondrosteosis | 127300 | C0265309 | OMIM | 1 | | 311 | 10853 | 312865 |
HP:0003712 | HP:0012892 | Facial muscle hypertrophy | 1 | SHOX CL E G H | 6473 | 127300 | Leri Weill dyschondrosteosis | 127300 | C0265309 | OMIM | 1 | | 311 | 10853 | 312865 |
HP:0003712 | HP:0012893 | Neck muscle hypertrophy | 1 | SHOX CL E G H | 6473 | 127300 | Leri Weill dyschondrosteosis | 127300 | C0265309 | OMIM | 1 | | 311 | 10853 | 312865 |
HP:0003712 | HP:0003720 | Generalized muscle hypertrophy | 1 | SMAD4 CL E G H | 4089 | 2588 | | | | ORPHA | 1 | | 1739 | 6770 | 600993 |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | SMAD4 CL E G H | 4089 | 2588 | | | | ORPHA | 1 | | 1739 | 6770 | 600993 |
HP:0003712 | HP:0012895 | Scapular muscle hypertrophy | 1 | SMAD4 CL E G H | 4089 | 2588 | | | | ORPHA | 1 | | 1739 | 6770 | 600993 |
HP:0003712 | HP:0000158 | Macroglossia | 1 | SMAD4 CL E G H | 4089 | 2588 | | | | ORPHA | 1 | | 1739 | 6770 | 600993 |
HP:0003712 | HP:0012894 | Paraspinal muscle hypertrophy | 1 | SMAD4 CL E G H | 4089 | 2588 | | | | ORPHA | 1 | | 1739 | 6770 | 600993 |
HP:0003712 | HP:0012892 | Facial muscle hypertrophy | 1 | SMAD4 CL E G H | 4089 | 2588 | | | | ORPHA | 1 | | 1739 | 6770 | 600993 |
HP:0003712 | HP:0012893 | Neck muscle hypertrophy | 1 | SMAD4 CL E G H | 4089 | 2588 | | | | ORPHA | 1 | | 1739 | 6770 | 600993 |
HP:0003712 | HP:0040265 | Upper limb muscle hypertrophy | 1 | SMAD4 CL E G H | 4089 | 2588 | | | | ORPHA | 1 | | 1739 | 6770 | 600993 |
HP:0003712 | HP:0009042 | Marked muscular hypertrophy | 1 | SMAD4 CL E G H | 4089 | 2588 | | | | ORPHA | 1 | | 1739 | 6770 | 600993 |
HP:0003712 | HP:0030284 | Triangular tongue | 2 | AGPAT2 CL E G H | 10555 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 213 | 325 | 603100 |
HP:0003712 | HP:0003733 | Thigh hypertrophy | 2 | AGPAT2 CL E G H | 10555 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 213 | 325 | 603100 |
HP:0003712 | HP:0100875 | Hemimacroglossia | 2 | AGPAT2 CL E G H | 10555 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 213 | 325 | 603100 |
HP:0003712 | HP:0040266 | Proximal upper limb muscle hypertrophy | 2 | AGPAT2 CL E G H | 10555 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 213 | 325 | 603100 |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | AGPAT2 CL E G H | 10555 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 213 | 325 | 603100 |
HP:0003712 | HP:0040267 | Distal upper limb muscle hypertrophy | 2 | AGPAT2 CL E G H | 10555 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 213 | 325 | 603100 |
HP:0003712 | HP:0030284 | Triangular tongue | 2 | BSCL2 CL E G H | 26580 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 435 | 15832 | 606158 |
HP:0003712 | HP:0003733 | Thigh hypertrophy | 2 | BSCL2 CL E G H | 26580 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 435 | 15832 | 606158 |
HP:0003712 | HP:0100875 | Hemimacroglossia | 2 | BSCL2 CL E G H | 26580 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 435 | 15832 | 606158 |
HP:0003712 | HP:0040266 | Proximal upper limb muscle hypertrophy | 2 | BSCL2 CL E G H | 26580 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 435 | 15832 | 606158 |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | BSCL2 CL E G H | 26580 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 435 | 15832 | 606158 |
HP:0003712 | HP:0040267 | Distal upper limb muscle hypertrophy | 2 | BSCL2 CL E G H | 26580 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 435 | 15832 | 606158 |
HP:0003712 | HP:0030284 | Triangular tongue | 2 | CAV1 CL E G H | 857 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 115 | 1527 | 601047 |
HP:0003712 | HP:0003733 | Thigh hypertrophy | 2 | CAV1 CL E G H | 857 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 115 | 1527 | 601047 |
HP:0003712 | HP:0100875 | Hemimacroglossia | 2 | CAV1 CL E G H | 857 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 115 | 1527 | 601047 |
HP:0003712 | HP:0040266 | Proximal upper limb muscle hypertrophy | 2 | CAV1 CL E G H | 857 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 115 | 1527 | 601047 |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | CAV1 CL E G H | 857 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 115 | 1527 | 601047 |
HP:0003712 | HP:0040267 | Distal upper limb muscle hypertrophy | 2 | CAV1 CL E G H | 857 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 115 | 1527 | 601047 |
HP:0003712 | HP:0030284 | Triangular tongue | 2 | CAV3 CL E G H | 859 | 606072 | Rippling muscle disease | 606072 | C1853698 | OMIM | 1 | | 390 | 1529 | 601253 |
HP:0003712 | HP:0003733 | Thigh hypertrophy | 2 | CAV3 CL E G H | 859 | 606072 | Rippling muscle disease | 606072 | C1853698 | OMIM | 1 | | 390 | 1529 | 601253 |
HP:0003712 | HP:0040266 | Proximal upper limb muscle hypertrophy | 2 | CAV3 CL E G H | 859 | 606072 | Rippling muscle disease | 606072 | C1853698 | OMIM | 1 | | 390 | 1529 | 601253 |
HP:0003712 | HP:0100875 | Hemimacroglossia | 2 | CAV3 CL E G H | 859 | 606072 | Rippling muscle disease | 606072 | C1853698 | OMIM | 1 | | 390 | 1529 | 601253 |
HP:0003712 | HP:0040267 | Distal upper limb muscle hypertrophy | 2 | CAV3 CL E G H | 859 | 606072 | Rippling muscle disease | 606072 | C1853698 | OMIM | 1 | | 390 | 1529 | 601253 |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | CAV3 CL E G H | 859 | 606072 | Rippling muscle disease | 606072 | C1853698 | OMIM | 1 | | 390 | 1529 | 601253 |
HP:0003712 | HP:0030284 | Triangular tongue | 2 | CAVIN1 CL E G H | 284119 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 112 | 9688 | 603198 |
HP:0003712 | HP:0003733 | Thigh hypertrophy | 2 | CAVIN1 CL E G H | 284119 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 112 | 9688 | 603198 |
HP:0003712 | HP:0100875 | Hemimacroglossia | 2 | CAVIN1 CL E G H | 284119 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 112 | 9688 | 603198 |
HP:0003712 | HP:0040266 | Proximal upper limb muscle hypertrophy | 2 | CAVIN1 CL E G H | 284119 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 112 | 9688 | 603198 |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | CAVIN1 CL E G H | 284119 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 112 | 9688 | 603198 |
HP:0003712 | HP:0040267 | Distal upper limb muscle hypertrophy | 2 | CAVIN1 CL E G H | 284119 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 112 | 9688 | 603198 |
HP:0003712 | HP:0030284 | Triangular tongue | 2 | CAVIN1 CL E G H | 284119 | 613327 | Lipodystrophy, congenital generalized, type 4 | 613327 | C2750069 | OMIM | 1 | | 112 | 9688 | 603198 |
HP:0003712 | HP:0003733 | Thigh hypertrophy | 2 | CAVIN1 CL E G H | 284119 | 613327 | Lipodystrophy, congenital generalized, type 4 | 613327 | C2750069 | OMIM | 1 | | 112 | 9688 | 603198 |
HP:0003712 | HP:0040266 | Proximal upper limb muscle hypertrophy | 2 | CAVIN1 CL E G H | 284119 | 613327 | Lipodystrophy, congenital generalized, type 4 | 613327 | C2750069 | OMIM | 1 | | 112 | 9688 | 603198 |
HP:0003712 | HP:0100875 | Hemimacroglossia | 2 | CAVIN1 CL E G H | 284119 | 613327 | Lipodystrophy, congenital generalized, type 4 | 613327 | C2750069 | OMIM | 1 | | 112 | 9688 | 603198 |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | CAVIN1 CL E G H | 284119 | 613327 | Lipodystrophy, congenital generalized, type 4 | 613327 | C2750069 | OMIM | 1 | | 112 | 9688 | 603198 |
HP:0003712 | HP:0040267 | Distal upper limb muscle hypertrophy | 2 | CAVIN1 CL E G H | 284119 | 613327 | Lipodystrophy, congenital generalized, type 4 | 613327 | C2750069 | OMIM | 1 | | 112 | 9688 | 603198 |
HP:0003712 | HP:0030284 | Triangular tongue | 2 | FKTN CL E G H | 2218 | 611588 | Limb-girdle muscular dystrophy-dystroglycanopathy, type C4 | 611588 | C1969040 | OMIM | 1 | | 783 | 3622 | 607440 |
HP:0003712 | HP:0003733 | Thigh hypertrophy | 2 | FKTN CL E G H | 2218 | 611588 | Limb-girdle muscular dystrophy-dystroglycanopathy, type C4 | 611588 | C1969040 | OMIM | 1 | | 783 | 3622 | 607440 |
HP:0003712 | HP:0100875 | Hemimacroglossia | 2 | FKTN CL E G H | 2218 | 611588 | Limb-girdle muscular dystrophy-dystroglycanopathy, type C4 | 611588 | C1969040 | OMIM | 1 | | 783 | 3622 | 607440 |
HP:0003712 | HP:0040266 | Proximal upper limb muscle hypertrophy | 2 | FKTN CL E G H | 2218 | 611588 | Limb-girdle muscular dystrophy-dystroglycanopathy, type C4 | 611588 | C1969040 | OMIM | 1 | | 783 | 3622 | 607440 |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | FKTN CL E G H | 2218 | 611588 | Limb-girdle muscular dystrophy-dystroglycanopathy, type C4 | 611588 | C1969040 | OMIM | 1 | | 783 | 3622 | 607440 |
HP:0003712 | HP:0040267 | Distal upper limb muscle hypertrophy | 2 | FKTN CL E G H | 2218 | 611588 | Limb-girdle muscular dystrophy-dystroglycanopathy, type C4 | 611588 | C1969040 | OMIM | 1 | | 783 | 3622 | 607440 |
HP:0003712 | HP:0030284 | Triangular tongue | 2 | FOS CL E G H | 2353 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 29 | 3796 | 164810 |
HP:0003712 | HP:0003733 | Thigh hypertrophy | 2 | FOS CL E G H | 2353 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 29 | 3796 | 164810 |
HP:0003712 | HP:0040266 | Proximal upper limb muscle hypertrophy | 2 | FOS CL E G H | 2353 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 29 | 3796 | 164810 |
HP:0003712 | HP:0100875 | Hemimacroglossia | 2 | FOS CL E G H | 2353 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 29 | 3796 | 164810 |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | FOS CL E G H | 2353 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 29 | 3796 | 164810 |
HP:0003712 | HP:0040267 | Distal upper limb muscle hypertrophy | 2 | FOS CL E G H | 2353 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 29 | 3796 | 164810 |
HP:0003712 | HP:0030284 | Triangular tongue | 2 | HSPG2 CL E G H | 3339 | 800 | | | | ORPHA | 1 | | 1830 | 5273 | 142461 |
HP:0003712 | HP:0003733 | Thigh hypertrophy | 2 | HSPG2 CL E G H | 3339 | 800 | | | | ORPHA | 1 | | 1830 | 5273 | 142461 |
HP:0003712 | HP:0100875 | Hemimacroglossia | 2 | HSPG2 CL E G H | 3339 | 800 | | | | ORPHA | 1 | | 1830 | 5273 | 142461 |
HP:0003712 | HP:0040266 | Proximal upper limb muscle hypertrophy | 2 | HSPG2 CL E G H | 3339 | 800 | | | | ORPHA | 1 | | 1830 | 5273 | 142461 |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | HSPG2 CL E G H | 3339 | 800 | | | | ORPHA | 1 | | 1830 | 5273 | 142461 |
HP:0003712 | HP:0040267 | Distal upper limb muscle hypertrophy | 2 | HSPG2 CL E G H | 3339 | 800 | | | | ORPHA | 1 | | 1830 | 5273 | 142461 |
HP:0003712 | HP:0003733 | Thigh hypertrophy | 2 | HSPG2 CL E G H | 3339 | 255800 | Schwartz Jampel syndrome type 1 | 255800 | C0036391 | OMIM | 1 | | 1830 | 5273 | 142461 |
HP:0003712 | HP:0030284 | Triangular tongue | 2 | HSPG2 CL E G H | 3339 | 255800 | Schwartz Jampel syndrome type 1 | 255800 | C0036391 | OMIM | 1 | | 1830 | 5273 | 142461 |
HP:0003712 | HP:0040266 | Proximal upper limb muscle hypertrophy | 2 | HSPG2 CL E G H | 3339 | 255800 | Schwartz Jampel syndrome type 1 | 255800 | C0036391 | OMIM | 1 | | 1830 | 5273 | 142461 |
HP:0003712 | HP:0100875 | Hemimacroglossia | 2 | HSPG2 CL E G H | 3339 | 255800 | Schwartz Jampel syndrome type 1 | 255800 | C0036391 | OMIM | 1 | | 1830 | 5273 | 142461 |
HP:0003712 | HP:0040267 | Distal upper limb muscle hypertrophy | 2 | HSPG2 CL E G H | 3339 | 255800 | Schwartz Jampel syndrome type 1 | 255800 | C0036391 | OMIM | 1 | | 1830 | 5273 | 142461 |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | HSPG2 CL E G H | 3339 | 255800 | Schwartz Jampel syndrome type 1 | 255800 | C0036391 | OMIM | 1 | | 1830 | 5273 | 142461 |
HP:0003712 | HP:0030284 | Triangular tongue | 2 | LMNA CL E G H | 4000 | 2348 | | | | ORPHA | 1 | | 1622 | 6636 | 150330 |
HP:0003712 | HP:0003733 | Thigh hypertrophy | 2 | LMNA CL E G H | 4000 | 2348 | | | | ORPHA | 1 | | 1622 | 6636 | 150330 |
HP:0003712 | HP:0100875 | Hemimacroglossia | 2 | LMNA CL E G H | 4000 | 2348 | | | | ORPHA | 1 | | 1622 | 6636 | 150330 |
HP:0003712 | HP:0040266 | Proximal upper limb muscle hypertrophy | 2 | LMNA CL E G H | 4000 | 2348 | | | | ORPHA | 1 | | 1622 | 6636 | 150330 |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | LMNA CL E G H | 4000 | 2348 | | | | ORPHA | 1 | | 1622 | 6636 | 150330 |
HP:0003712 | HP:0040267 | Distal upper limb muscle hypertrophy | 2 | LMNA CL E G H | 4000 | 2348 | | | | ORPHA | 1 | | 1622 | 6636 | 150330 |
HP:0003712 | HP:0030284 | Triangular tongue | 2 | LMNA CL E G H | 4000 | 151660 | Familial partial lipodystrophy 2 | 151660 | C1720860 | OMIM | 1 | | 1622 | 6636 | 150330 |
HP:0003712 | HP:0003733 | Thigh hypertrophy | 2 | LMNA CL E G H | 4000 | 151660 | Familial partial lipodystrophy 2 | 151660 | C1720860 | OMIM | 1 | | 1622 | 6636 | 150330 |
HP:0003712 | HP:0100875 | Hemimacroglossia | 2 | LMNA CL E G H | 4000 | 151660 | Familial partial lipodystrophy 2 | 151660 | C1720860 | OMIM | 1 | | 1622 | 6636 | 150330 |
HP:0003712 | HP:0040266 | Proximal upper limb muscle hypertrophy | 2 | LMNA CL E G H | 4000 | 151660 | Familial partial lipodystrophy 2 | 151660 | C1720860 | OMIM | 1 | | 1622 | 6636 | 150330 |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | LMNA CL E G H | 4000 | 151660 | Familial partial lipodystrophy 2 | 151660 | C1720860 | OMIM | 1 | | 1622 | 6636 | 150330 |
HP:0003712 | HP:0040267 | Distal upper limb muscle hypertrophy | 2 | LMNA CL E G H | 4000 | 151660 | Familial partial lipodystrophy 2 | 151660 | C1720860 | OMIM | 1 | | 1622 | 6636 | 150330 |
HP:0003712 | HP:0030284 | Triangular tongue | 2 | MPZ CL E G H | 4359 | 101082 | | | | ORPHA | 1 | | 557 | 7225 | 159440 |
HP:0003712 | HP:0003733 | Thigh hypertrophy | 2 | MPZ CL E G H | 4359 | 101082 | | | | ORPHA | 1 | | 557 | 7225 | 159440 |
HP:0003712 | HP:0100875 | Hemimacroglossia | 2 | MPZ CL E G H | 4359 | 101082 | | | | ORPHA | 1 | | 557 | 7225 | 159440 |
HP:0003712 | HP:0040266 | Proximal upper limb muscle hypertrophy | 2 | MPZ CL E G H | 4359 | 101082 | | | | ORPHA | 1 | | 557 | 7225 | 159440 |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | MPZ CL E G H | 4359 | 101082 | | | | ORPHA | 1 | | 557 | 7225 | 159440 |
HP:0003712 | HP:0040267 | Distal upper limb muscle hypertrophy | 2 | MPZ CL E G H | 4359 | 101082 | | | | ORPHA | 1 | | 557 | 7225 | 159440 |
HP:0003712 | HP:0030284 | Triangular tongue | 2 | MSTN CL E G H | 2660 | 614160 | Muscle hypertrophy | 614160 | C0236033 | OMIM | 1 | | 88 | 4223 | 601788 |
HP:0003712 | HP:0003733 | Thigh hypertrophy | 2 | MSTN CL E G H | 2660 | 614160 | Muscle hypertrophy | 614160 | C0236033 | OMIM | 1 | | 88 | 4223 | 601788 |
HP:0003712 | HP:0040266 | Proximal upper limb muscle hypertrophy | 2 | MSTN CL E G H | 2660 | 614160 | Muscle hypertrophy | 614160 | C0236033 | OMIM | 1 | | 88 | 4223 | 601788 |
HP:0003712 | HP:0100875 | Hemimacroglossia | 2 | MSTN CL E G H | 2660 | 614160 | Muscle hypertrophy | 614160 | C0236033 | OMIM | 1 | | 88 | 4223 | 601788 |
HP:0003712 | HP:0040267 | Distal upper limb muscle hypertrophy | 2 | MSTN CL E G H | 2660 | 614160 | Muscle hypertrophy | 614160 | C0236033 | OMIM | 1 | | 88 | 4223 | 601788 |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | MSTN CL E G H | 2660 | 614160 | Muscle hypertrophy | 614160 | C0236033 | OMIM | 1 | | 88 | 4223 | 601788 |
HP:0003712 | HP:0003733 | Thigh hypertrophy | 2 | PLIN1 CL E G H | 5346 | 613877 | Familial partial lipodystrophy 4 | 613877 | C3151268 | OMIM | 1 | | 101 | 9076 | 170290 |
HP:0003712 | HP:0030284 | Triangular tongue | 2 | PLIN1 CL E G H | 5346 | 613877 | Familial partial lipodystrophy 4 | 613877 | C3151268 | OMIM | 1 | | 101 | 9076 | 170290 |
HP:0003712 | HP:0040266 | Proximal upper limb muscle hypertrophy | 2 | PLIN1 CL E G H | 5346 | 613877 | Familial partial lipodystrophy 4 | 613877 | C3151268 | OMIM | 1 | | 101 | 9076 | 170290 |
HP:0003712 | HP:0100875 | Hemimacroglossia | 2 | PLIN1 CL E G H | 5346 | 613877 | Familial partial lipodystrophy 4 | 613877 | C3151268 | OMIM | 1 | | 101 | 9076 | 170290 |
HP:0003712 | HP:0040267 | Distal upper limb muscle hypertrophy | 2 | PLIN1 CL E G H | 5346 | 613877 | Familial partial lipodystrophy 4 | 613877 | C3151268 | OMIM | 1 | | 101 | 9076 | 170290 |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | PLIN1 CL E G H | 5346 | 613877 | Familial partial lipodystrophy 4 | 613877 | C3151268 | OMIM | 1 | | 101 | 9076 | 170290 |
HP:0003712 | HP:0030284 | Triangular tongue | 2 | POMGNT1 CL E G H | 55624 | 613157 | Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 | 613157 | C3150417 | OMIM | 1 | | 943 | 19139 | 606822 |
HP:0003712 | HP:0003733 | Thigh hypertrophy | 2 | POMGNT1 CL E G H | 55624 | 613157 | Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 | 613157 | C3150417 | OMIM | 1 | | 943 | 19139 | 606822 |
HP:0003712 | HP:0100875 | Hemimacroglossia | 2 | POMGNT1 CL E G H | 55624 | 613157 | Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 | 613157 | C3150417 | OMIM | 1 | | 943 | 19139 | 606822 |
HP:0003712 | HP:0040266 | Proximal upper limb muscle hypertrophy | 2 | POMGNT1 CL E G H | 55624 | 613157 | Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 | 613157 | C3150417 | OMIM | 1 | | 943 | 19139 | 606822 |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | POMGNT1 CL E G H | 55624 | 613157 | Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 | 613157 | C3150417 | OMIM | 1 | | 943 | 19139 | 606822 |
HP:0003712 | HP:0040267 | Distal upper limb muscle hypertrophy | 2 | POMGNT1 CL E G H | 55624 | 613157 | Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 | 613157 | C3150417 | OMIM | 1 | | 943 | 19139 | 606822 |
HP:0003712 | HP:0030284 | Triangular tongue | 2 | POMT2 CL E G H | 29954 | 613158 | Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 | 613158 | C3150418 | OMIM | 1 | | 766 | 19743 | 607439 |
HP:0003712 | HP:0003733 | Thigh hypertrophy | 2 | POMT2 CL E G H | 29954 | 613158 | Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 | 613158 | C3150418 | OMIM | 1 | | 766 | 19743 | 607439 |
HP:0003712 | HP:0100875 | Hemimacroglossia | 2 | POMT2 CL E G H | 29954 | 613158 | Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 | 613158 | C3150418 | OMIM | 1 | | 766 | 19743 | 607439 |
HP:0003712 | HP:0040266 | Proximal upper limb muscle hypertrophy | 2 | POMT2 CL E G H | 29954 | 613158 | Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 | 613158 | C3150418 | OMIM | 1 | | 766 | 19743 | 607439 |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | POMT2 CL E G H | 29954 | 613158 | Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 | 613158 | C3150418 | OMIM | 1 | | 766 | 19743 | 607439 |
HP:0003712 | HP:0040267 | Distal upper limb muscle hypertrophy | 2 | POMT2 CL E G H | 29954 | 613158 | Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 | 613158 | C3150418 | OMIM | 1 | | 766 | 19743 | 607439 |
HP:0003712 | HP:0003733 | Thigh hypertrophy | 2 | PPARG CL E G H | 5468 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 139 | 9236 | 601487 |
HP:0003712 | HP:0030284 | Triangular tongue | 2 | PPARG CL E G H | 5468 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 139 | 9236 | 601487 |
HP:0003712 | HP:0040266 | Proximal upper limb muscle hypertrophy | 2 | PPARG CL E G H | 5468 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 139 | 9236 | 601487 |
HP:0003712 | HP:0100875 | Hemimacroglossia | 2 | PPARG CL E G H | 5468 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 139 | 9236 | 601487 |
HP:0003712 | HP:0040267 | Distal upper limb muscle hypertrophy | 2 | PPARG CL E G H | 5468 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 139 | 9236 | 601487 |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | PPARG CL E G H | 5468 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 139 | 9236 | 601487 |
HP:0003712 | HP:0030284 | Triangular tongue | 2 | PRPS1 CL E G H | 5631 | 99014 | | | | ORPHA | 1 | | 360 | 9462 | 311850 |
HP:0003712 | HP:0003733 | Thigh hypertrophy | 2 | PRPS1 CL E G H | 5631 | 99014 | | | | ORPHA | 1 | | 360 | 9462 | 311850 |
HP:0003712 | HP:0100875 | Hemimacroglossia | 2 | PRPS1 CL E G H | 5631 | 99014 | | | | ORPHA | 1 | | 360 | 9462 | 311850 |
HP:0003712 | HP:0040266 | Proximal upper limb muscle hypertrophy | 2 | PRPS1 CL E G H | 5631 | 99014 | | | | ORPHA | 1 | | 360 | 9462 | 311850 |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | PRPS1 CL E G H | 5631 | 99014 | | | | ORPHA | 1 | | 360 | 9462 | 311850 |
HP:0003712 | HP:0040267 | Distal upper limb muscle hypertrophy | 2 | PRPS1 CL E G H | 5631 | 99014 | | | | ORPHA | 1 | | 360 | 9462 | 311850 |
HP:0003712 | HP:0030284 | Triangular tongue | 2 | SCN4A CL E G H | 6329 | 168300 | Paramyotonia congenita of von Eulenburg | 168300 | C0221055 | OMIM | 1 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0003733 | Thigh hypertrophy | 2 | SCN4A CL E G H | 6329 | 168300 | Paramyotonia congenita of von Eulenburg | 168300 | C0221055 | OMIM | 1 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0100875 | Hemimacroglossia | 2 | SCN4A CL E G H | 6329 | 168300 | Paramyotonia congenita of von Eulenburg | 168300 | C0221055 | OMIM | 1 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0040266 | Proximal upper limb muscle hypertrophy | 2 | SCN4A CL E G H | 6329 | 168300 | Paramyotonia congenita of von Eulenburg | 168300 | C0221055 | OMIM | 1 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | SCN4A CL E G H | 6329 | 168300 | Paramyotonia congenita of von Eulenburg | 168300 | C0221055 | OMIM | 1 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0040267 | Distal upper limb muscle hypertrophy | 2 | SCN4A CL E G H | 6329 | 168300 | Paramyotonia congenita of von Eulenburg | 168300 | C0221055 | OMIM | 1 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0030284 | Triangular tongue | 2 | SCN4A CL E G H | 6329 | 608390 | Potassium aggravated myotonia | 608390 | C0752355 | OMIM | 1 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0003733 | Thigh hypertrophy | 2 | SCN4A CL E G H | 6329 | 608390 | Potassium aggravated myotonia | 608390 | C0752355 | OMIM | 1 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0100875 | Hemimacroglossia | 2 | SCN4A CL E G H | 6329 | 608390 | Potassium aggravated myotonia | 608390 | C0752355 | OMIM | 1 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0040266 | Proximal upper limb muscle hypertrophy | 2 | SCN4A CL E G H | 6329 | 608390 | Potassium aggravated myotonia | 608390 | C0752355 | OMIM | 1 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | SCN4A CL E G H | 6329 | 608390 | Potassium aggravated myotonia | 608390 | C0752355 | OMIM | 1 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0040267 | Distal upper limb muscle hypertrophy | 2 | SCN4A CL E G H | 6329 | 608390 | Potassium aggravated myotonia | 608390 | C0752355 | OMIM | 1 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0030284 | Triangular tongue | 2 | SHOX CL E G H | 6473 | 314795 | | | | ORPHA | 1 | | 311 | 10853 | 312865 |
HP:0003712 | HP:0003733 | Thigh hypertrophy | 2 | SHOX CL E G H | 6473 | 314795 | | | | ORPHA | 1 | | 311 | 10853 | 312865 |
HP:0003712 | HP:0040266 | Proximal upper limb muscle hypertrophy | 2 | SHOX CL E G H | 6473 | 314795 | | | | ORPHA | 1 | | 311 | 10853 | 312865 |
HP:0003712 | HP:0100875 | Hemimacroglossia | 2 | SHOX CL E G H | 6473 | 314795 | | | | ORPHA | 1 | | 311 | 10853 | 312865 |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | SHOX CL E G H | 6473 | 314795 | | | | ORPHA | 1 | | 311 | 10853 | 312865 |
HP:0003712 | HP:0040267 | Distal upper limb muscle hypertrophy | 2 | SHOX CL E G H | 6473 | 314795 | | | | ORPHA | 1 | | 311 | 10853 | 312865 |
HP:0003712 | HP:0003733 | Thigh hypertrophy | 2 | SHOX CL E G H | 6473 | 127300 | Leri Weill dyschondrosteosis | 127300 | C0265309 | OMIM | 1 | | 311 | 10853 | 312865 |
HP:0003712 | HP:0030284 | Triangular tongue | 2 | SHOX CL E G H | 6473 | 127300 | Leri Weill dyschondrosteosis | 127300 | C0265309 | OMIM | 1 | | 311 | 10853 | 312865 |
HP:0003712 | HP:0040266 | Proximal upper limb muscle hypertrophy | 2 | SHOX CL E G H | 6473 | 127300 | Leri Weill dyschondrosteosis | 127300 | C0265309 | OMIM | 1 | | 311 | 10853 | 312865 |
HP:0003712 | HP:0100875 | Hemimacroglossia | 2 | SHOX CL E G H | 6473 | 127300 | Leri Weill dyschondrosteosis | 127300 | C0265309 | OMIM | 1 | | 311 | 10853 | 312865 |
HP:0003712 | HP:0040267 | Distal upper limb muscle hypertrophy | 2 | SHOX CL E G H | 6473 | 127300 | Leri Weill dyschondrosteosis | 127300 | C0265309 | OMIM | 1 | | 311 | 10853 | 312865 |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | SHOX CL E G H | 6473 | 127300 | Leri Weill dyschondrosteosis | 127300 | C0265309 | OMIM | 1 | | 311 | 10853 | 312865 |
HP:0003712 | HP:0030284 | Triangular tongue | 2 | SMAD4 CL E G H | 4089 | 2588 | | | | ORPHA | 1 | | 1739 | 6770 | 600993 |
HP:0003712 | HP:0003733 | Thigh hypertrophy | 2 | SMAD4 CL E G H | 4089 | 2588 | | | | ORPHA | 1 | | 1739 | 6770 | 600993 |
HP:0003712 | HP:0100875 | Hemimacroglossia | 2 | SMAD4 CL E G H | 4089 | 2588 | | | | ORPHA | 1 | | 1739 | 6770 | 600993 |
HP:0003712 | HP:0040266 | Proximal upper limb muscle hypertrophy | 2 | SMAD4 CL E G H | 4089 | 2588 | | | | ORPHA | 1 | | 1739 | 6770 | 600993 |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | SMAD4 CL E G H | 4089 | 2588 | | | | ORPHA | 1 | | 1739 | 6770 | 600993 |
HP:0003712 | HP:0040267 | Distal upper limb muscle hypertrophy | 2 | SMAD4 CL E G H | 4089 | 2588 | | | | ORPHA | 1 | | 1739 | 6770 | 600993 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | CLCN1 CL E G H | 1180 | 160800 | Congenital myotonia, autosomal dominant form | 160800 | C2936781 | OMIM | 0 | | 870 | 2019 | 118425 |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | CLCN1 CL E G H | 1180 | 255700 | Congenital myotonia, autosomal recessive form | 255700 | C0751360 | OMIM | 0 | | 870 | 2019 | 118425 |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | DNM2 CL E G H | 1785 | 160150 | Myopathy, centronuclear, 1 | 160150 | C1834558 | OMIM | 0 | | 885 | 2974 | 602378 |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | SCN4A CL E G H | 6329 | 682 | | | | ORPHA | 0 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | SCN4A CL E G H | 6329 | 99736 | | | | ORPHA | 0 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | SCN4A CL E G H | 6329 | 99734 | | | | ORPHA | 0 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | SMAD4 CL E G H | 4089 | 139210 | Myhre syndrome | 139210 | C0796081 | OMIM | 0 | | 1739 | 6770 | 600993 |
HP:0003712 | HP:0003720 | Generalized muscle hypertrophy | 1 | CLCN1 CL E G H | 1180 | 160800 | Congenital myotonia, autosomal dominant form | 160800 | C2936781 | OMIM | 0 | | 870 | 2019 | 118425 |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | CLCN1 CL E G H | 1180 | 160800 | Congenital myotonia, autosomal dominant form | 160800 | C2936781 | OMIM | 0 | | 870 | 2019 | 118425 |
HP:0003712 | HP:0012895 | Scapular muscle hypertrophy | 1 | CLCN1 CL E G H | 1180 | 160800 | Congenital myotonia, autosomal dominant form | 160800 | C2936781 | OMIM | 0 | | 870 | 2019 | 118425 |
HP:0003712 | HP:0000158 | Macroglossia | 1 | CLCN1 CL E G H | 1180 | 160800 | Congenital myotonia, autosomal dominant form | 160800 | C2936781 | OMIM | 0 | | 870 | 2019 | 118425 |
HP:0003712 | HP:0012894 | Paraspinal muscle hypertrophy | 1 | CLCN1 CL E G H | 1180 | 160800 | Congenital myotonia, autosomal dominant form | 160800 | C2936781 | OMIM | 0 | | 870 | 2019 | 118425 |
HP:0003712 | HP:0012892 | Facial muscle hypertrophy | 1 | CLCN1 CL E G H | 1180 | 160800 | Congenital myotonia, autosomal dominant form | 160800 | C2936781 | OMIM | 0 | | 870 | 2019 | 118425 |
HP:0003712 | HP:0012893 | Neck muscle hypertrophy | 1 | CLCN1 CL E G H | 1180 | 160800 | Congenital myotonia, autosomal dominant form | 160800 | C2936781 | OMIM | 0 | | 870 | 2019 | 118425 |
HP:0003712 | HP:0040265 | Upper limb muscle hypertrophy | 1 | CLCN1 CL E G H | 1180 | 160800 | Congenital myotonia, autosomal dominant form | 160800 | C2936781 | OMIM | 0 | | 870 | 2019 | 118425 |
HP:0003712 | HP:0009042 | Marked muscular hypertrophy | 1 | CLCN1 CL E G H | 1180 | 160800 | Congenital myotonia, autosomal dominant form | 160800 | C2936781 | OMIM | 0 | | 870 | 2019 | 118425 |
HP:0003712 | HP:0003720 | Generalized muscle hypertrophy | 1 | CLCN1 CL E G H | 1180 | 255700 | Congenital myotonia, autosomal recessive form | 255700 | C0751360 | OMIM | 0 | | 870 | 2019 | 118425 |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | CLCN1 CL E G H | 1180 | 255700 | Congenital myotonia, autosomal recessive form | 255700 | C0751360 | OMIM | 0 | | 870 | 2019 | 118425 |
HP:0003712 | HP:0012895 | Scapular muscle hypertrophy | 1 | CLCN1 CL E G H | 1180 | 255700 | Congenital myotonia, autosomal recessive form | 255700 | C0751360 | OMIM | 0 | | 870 | 2019 | 118425 |
HP:0003712 | HP:0012894 | Paraspinal muscle hypertrophy | 1 | CLCN1 CL E G H | 1180 | 255700 | Congenital myotonia, autosomal recessive form | 255700 | C0751360 | OMIM | 0 | | 870 | 2019 | 118425 |
HP:0003712 | HP:0000158 | Macroglossia | 1 | CLCN1 CL E G H | 1180 | 255700 | Congenital myotonia, autosomal recessive form | 255700 | C0751360 | OMIM | 0 | | 870 | 2019 | 118425 |
HP:0003712 | HP:0012893 | Neck muscle hypertrophy | 1 | CLCN1 CL E G H | 1180 | 255700 | Congenital myotonia, autosomal recessive form | 255700 | C0751360 | OMIM | 0 | | 870 | 2019 | 118425 |
HP:0003712 | HP:0040265 | Upper limb muscle hypertrophy | 1 | CLCN1 CL E G H | 1180 | 255700 | Congenital myotonia, autosomal recessive form | 255700 | C0751360 | OMIM | 0 | | 870 | 2019 | 118425 |
HP:0003712 | HP:0009042 | Marked muscular hypertrophy | 1 | CLCN1 CL E G H | 1180 | 255700 | Congenital myotonia, autosomal recessive form | 255700 | C0751360 | OMIM | 0 | | 870 | 2019 | 118425 |
HP:0003712 | HP:0012892 | Facial muscle hypertrophy | 1 | CLCN1 CL E G H | 1180 | 255700 | Congenital myotonia, autosomal recessive form | 255700 | C0751360 | OMIM | 0 | | 870 | 2019 | 118425 |
HP:0003712 | HP:0003720 | Generalized muscle hypertrophy | 1 | DNM2 CL E G H | 1785 | 160150 | Myopathy, centronuclear, 1 | 160150 | C1834558 | OMIM | 0 | | 885 | 2974 | 602378 |
HP:0003712 | HP:0012895 | Scapular muscle hypertrophy | 1 | DNM2 CL E G H | 1785 | 160150 | Myopathy, centronuclear, 1 | 160150 | C1834558 | OMIM | 0 | | 885 | 2974 | 602378 |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | DNM2 CL E G H | 1785 | 160150 | Myopathy, centronuclear, 1 | 160150 | C1834558 | OMIM | 0 | | 885 | 2974 | 602378 |
HP:0003712 | HP:0000158 | Macroglossia | 1 | DNM2 CL E G H | 1785 | 160150 | Myopathy, centronuclear, 1 | 160150 | C1834558 | OMIM | 0 | | 885 | 2974 | 602378 |
HP:0003712 | HP:0012894 | Paraspinal muscle hypertrophy | 1 | DNM2 CL E G H | 1785 | 160150 | Myopathy, centronuclear, 1 | 160150 | C1834558 | OMIM | 0 | | 885 | 2974 | 602378 |
HP:0003712 | HP:0012892 | Facial muscle hypertrophy | 1 | DNM2 CL E G H | 1785 | 160150 | Myopathy, centronuclear, 1 | 160150 | C1834558 | OMIM | 0 | | 885 | 2974 | 602378 |
HP:0003712 | HP:0012893 | Neck muscle hypertrophy | 1 | DNM2 CL E G H | 1785 | 160150 | Myopathy, centronuclear, 1 | 160150 | C1834558 | OMIM | 0 | | 885 | 2974 | 602378 |
HP:0003712 | HP:0040265 | Upper limb muscle hypertrophy | 1 | DNM2 CL E G H | 1785 | 160150 | Myopathy, centronuclear, 1 | 160150 | C1834558 | OMIM | 0 | | 885 | 2974 | 602378 |
HP:0003712 | HP:0009042 | Marked muscular hypertrophy | 1 | DNM2 CL E G H | 1785 | 160150 | Myopathy, centronuclear, 1 | 160150 | C1834558 | OMIM | 0 | | 885 | 2974 | 602378 |
HP:0003712 | HP:0003720 | Generalized muscle hypertrophy | 1 | SCN4A CL E G H | 6329 | 682 | | | | ORPHA | 0 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0003720 | Generalized muscle hypertrophy | 1 | SCN4A CL E G H | 6329 | 99736 | | | | ORPHA | 0 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0003720 | Generalized muscle hypertrophy | 1 | SCN4A CL E G H | 6329 | 99734 | | | | ORPHA | 0 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | SCN4A CL E G H | 6329 | 99736 | | | | ORPHA | 0 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | SCN4A CL E G H | 6329 | 99734 | | | | ORPHA | 0 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0012895 | Scapular muscle hypertrophy | 1 | SCN4A CL E G H | 6329 | 682 | | | | ORPHA | 0 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0012895 | Scapular muscle hypertrophy | 1 | SCN4A CL E G H | 6329 | 99736 | | | | ORPHA | 0 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0012895 | Scapular muscle hypertrophy | 1 | SCN4A CL E G H | 6329 | 99734 | | | | ORPHA | 0 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | SCN4A CL E G H | 6329 | 682 | | | | ORPHA | 0 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0012894 | Paraspinal muscle hypertrophy | 1 | SCN4A CL E G H | 6329 | 682 | | | | ORPHA | 0 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0012894 | Paraspinal muscle hypertrophy | 1 | SCN4A CL E G H | 6329 | 99736 | | | | ORPHA | 0 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0012894 | Paraspinal muscle hypertrophy | 1 | SCN4A CL E G H | 6329 | 99734 | | | | ORPHA | 0 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0000158 | Macroglossia | 1 | SCN4A CL E G H | 6329 | 682 | | | | ORPHA | 0 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0000158 | Macroglossia | 1 | SCN4A CL E G H | 6329 | 99736 | | | | ORPHA | 0 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0000158 | Macroglossia | 1 | SCN4A CL E G H | 6329 | 99734 | | | | ORPHA | 0 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0040265 | Upper limb muscle hypertrophy | 1 | SCN4A CL E G H | 6329 | 682 | | | | ORPHA | 0 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0012893 | Neck muscle hypertrophy | 1 | SCN4A CL E G H | 6329 | 99734 | | | | ORPHA | 0 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0040265 | Upper limb muscle hypertrophy | 1 | SCN4A CL E G H | 6329 | 99736 | | | | ORPHA | 0 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0009042 | Marked muscular hypertrophy | 1 | SCN4A CL E G H | 6329 | 682 | | | | ORPHA | 0 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0040265 | Upper limb muscle hypertrophy | 1 | SCN4A CL E G H | 6329 | 99734 | | | | ORPHA | 0 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0009042 | Marked muscular hypertrophy | 1 | SCN4A CL E G H | 6329 | 99736 | | | | ORPHA | 0 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0009042 | Marked muscular hypertrophy | 1 | SCN4A CL E G H | 6329 | 99734 | | | | ORPHA | 0 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0012892 | Facial muscle hypertrophy | 1 | SCN4A CL E G H | 6329 | 682 | | | | ORPHA | 0 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0012892 | Facial muscle hypertrophy | 1 | SCN4A CL E G H | 6329 | 99736 | | | | ORPHA | 0 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0012893 | Neck muscle hypertrophy | 1 | SCN4A CL E G H | 6329 | 682 | | | | ORPHA | 0 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0012892 | Facial muscle hypertrophy | 1 | SCN4A CL E G H | 6329 | 99734 | | | | ORPHA | 0 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0012893 | Neck muscle hypertrophy | 1 | SCN4A CL E G H | 6329 | 99736 | | | | ORPHA | 0 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0003720 | Generalized muscle hypertrophy | 1 | SMAD4 CL E G H | 4089 | 139210 | Myhre syndrome | 139210 | C0796081 | OMIM | 0 | | 1739 | 6770 | 600993 |
HP:0003712 | HP:0012895 | Scapular muscle hypertrophy | 1 | SMAD4 CL E G H | 4089 | 139210 | Myhre syndrome | 139210 | C0796081 | OMIM | 0 | | 1739 | 6770 | 600993 |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | SMAD4 CL E G H | 4089 | 139210 | Myhre syndrome | 139210 | C0796081 | OMIM | 0 | | 1739 | 6770 | 600993 |
HP:0003712 | HP:0012894 | Paraspinal muscle hypertrophy | 1 | SMAD4 CL E G H | 4089 | 139210 | Myhre syndrome | 139210 | C0796081 | OMIM | 0 | | 1739 | 6770 | 600993 |
HP:0003712 | HP:0000158 | Macroglossia | 1 | SMAD4 CL E G H | 4089 | 139210 | Myhre syndrome | 139210 | C0796081 | OMIM | 0 | | 1739 | 6770 | 600993 |
HP:0003712 | HP:0009042 | Marked muscular hypertrophy | 1 | SMAD4 CL E G H | 4089 | 139210 | Myhre syndrome | 139210 | C0796081 | OMIM | 0 | | 1739 | 6770 | 600993 |
HP:0003712 | HP:0012892 | Facial muscle hypertrophy | 1 | SMAD4 CL E G H | 4089 | 139210 | Myhre syndrome | 139210 | C0796081 | OMIM | 0 | | 1739 | 6770 | 600993 |
HP:0003712 | HP:0012893 | Neck muscle hypertrophy | 1 | SMAD4 CL E G H | 4089 | 139210 | Myhre syndrome | 139210 | C0796081 | OMIM | 0 | | 1739 | 6770 | 600993 |
HP:0003712 | HP:0040265 | Upper limb muscle hypertrophy | 1 | SMAD4 CL E G H | 4089 | 139210 | Myhre syndrome | 139210 | C0796081 | OMIM | 0 | | 1739 | 6770 | 600993 |
HP:0003712 | HP:0030284 | Triangular tongue | 2 | CLCN1 CL E G H | 1180 | 160800 | Congenital myotonia, autosomal dominant form | 160800 | C2936781 | OMIM | 0 | | 870 | 2019 | 118425 |
HP:0003712 | HP:0003733 | Thigh hypertrophy | 2 | CLCN1 CL E G H | 1180 | 160800 | Congenital myotonia, autosomal dominant form | 160800 | C2936781 | OMIM | 0 | | 870 | 2019 | 118425 |
HP:0003712 | HP:0100875 | Hemimacroglossia | 2 | CLCN1 CL E G H | 1180 | 160800 | Congenital myotonia, autosomal dominant form | 160800 | C2936781 | OMIM | 0 | | 870 | 2019 | 118425 |
HP:0003712 | HP:0040266 | Proximal upper limb muscle hypertrophy | 2 | CLCN1 CL E G H | 1180 | 160800 | Congenital myotonia, autosomal dominant form | 160800 | C2936781 | OMIM | 0 | | 870 | 2019 | 118425 |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | CLCN1 CL E G H | 1180 | 160800 | Congenital myotonia, autosomal dominant form | 160800 | C2936781 | OMIM | 0 | | 870 | 2019 | 118425 |
HP:0003712 | HP:0040267 | Distal upper limb muscle hypertrophy | 2 | CLCN1 CL E G H | 1180 | 160800 | Congenital myotonia, autosomal dominant form | 160800 | C2936781 | OMIM | 0 | | 870 | 2019 | 118425 |
HP:0003712 | HP:0003733 | Thigh hypertrophy | 2 | CLCN1 CL E G H | 1180 | 255700 | Congenital myotonia, autosomal recessive form | 255700 | C0751360 | OMIM | 0 | | 870 | 2019 | 118425 |
HP:0003712 | HP:0030284 | Triangular tongue | 2 | CLCN1 CL E G H | 1180 | 255700 | Congenital myotonia, autosomal recessive form | 255700 | C0751360 | OMIM | 0 | | 870 | 2019 | 118425 |
HP:0003712 | HP:0040266 | Proximal upper limb muscle hypertrophy | 2 | CLCN1 CL E G H | 1180 | 255700 | Congenital myotonia, autosomal recessive form | 255700 | C0751360 | OMIM | 0 | | 870 | 2019 | 118425 |
HP:0003712 | HP:0100875 | Hemimacroglossia | 2 | CLCN1 CL E G H | 1180 | 255700 | Congenital myotonia, autosomal recessive form | 255700 | C0751360 | OMIM | 0 | | 870 | 2019 | 118425 |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | CLCN1 CL E G H | 1180 | 255700 | Congenital myotonia, autosomal recessive form | 255700 | C0751360 | OMIM | 0 | | 870 | 2019 | 118425 |
HP:0003712 | HP:0040267 | Distal upper limb muscle hypertrophy | 2 | CLCN1 CL E G H | 1180 | 255700 | Congenital myotonia, autosomal recessive form | 255700 | C0751360 | OMIM | 0 | | 870 | 2019 | 118425 |
HP:0003712 | HP:0030284 | Triangular tongue | 2 | DNM2 CL E G H | 1785 | 160150 | Myopathy, centronuclear, 1 | 160150 | C1834558 | OMIM | 0 | | 885 | 2974 | 602378 |
HP:0003712 | HP:0003733 | Thigh hypertrophy | 2 | DNM2 CL E G H | 1785 | 160150 | Myopathy, centronuclear, 1 | 160150 | C1834558 | OMIM | 0 | | 885 | 2974 | 602378 |
HP:0003712 | HP:0100875 | Hemimacroglossia | 2 | DNM2 CL E G H | 1785 | 160150 | Myopathy, centronuclear, 1 | 160150 | C1834558 | OMIM | 0 | | 885 | 2974 | 602378 |
HP:0003712 | HP:0040266 | Proximal upper limb muscle hypertrophy | 2 | DNM2 CL E G H | 1785 | 160150 | Myopathy, centronuclear, 1 | 160150 | C1834558 | OMIM | 0 | | 885 | 2974 | 602378 |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | DNM2 CL E G H | 1785 | 160150 | Myopathy, centronuclear, 1 | 160150 | C1834558 | OMIM | 0 | | 885 | 2974 | 602378 |
HP:0003712 | HP:0040267 | Distal upper limb muscle hypertrophy | 2 | DNM2 CL E G H | 1785 | 160150 | Myopathy, centronuclear, 1 | 160150 | C1834558 | OMIM | 0 | | 885 | 2974 | 602378 |
HP:0003712 | HP:0030284 | Triangular tongue | 2 | SCN4A CL E G H | 6329 | 99734 | | | | ORPHA | 0 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0003733 | Thigh hypertrophy | 2 | SCN4A CL E G H | 6329 | 99736 | | | | ORPHA | 0 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0003733 | Thigh hypertrophy | 2 | SCN4A CL E G H | 6329 | 99734 | | | | ORPHA | 0 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0030284 | Triangular tongue | 2 | SCN4A CL E G H | 6329 | 682 | | | | ORPHA | 0 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0030284 | Triangular tongue | 2 | SCN4A CL E G H | 6329 | 99736 | | | | ORPHA | 0 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0003733 | Thigh hypertrophy | 2 | SCN4A CL E G H | 6329 | 682 | | | | ORPHA | 0 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0040266 | Proximal upper limb muscle hypertrophy | 2 | SCN4A CL E G H | 6329 | 682 | | | | ORPHA | 0 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0040266 | Proximal upper limb muscle hypertrophy | 2 | SCN4A CL E G H | 6329 | 99736 | | | | ORPHA | 0 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0040266 | Proximal upper limb muscle hypertrophy | 2 | SCN4A CL E G H | 6329 | 99734 | | | | ORPHA | 0 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0100875 | Hemimacroglossia | 2 | SCN4A CL E G H | 6329 | 682 | | | | ORPHA | 0 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0100875 | Hemimacroglossia | 2 | SCN4A CL E G H | 6329 | 99736 | | | | ORPHA | 0 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0100875 | Hemimacroglossia | 2 | SCN4A CL E G H | 6329 | 99734 | | | | ORPHA | 0 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | SCN4A CL E G H | 6329 | 99736 | | | | ORPHA | 0 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0040267 | Distal upper limb muscle hypertrophy | 2 | SCN4A CL E G H | 6329 | 682 | | | | ORPHA | 0 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | SCN4A CL E G H | 6329 | 99734 | | | | ORPHA | 0 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0040267 | Distal upper limb muscle hypertrophy | 2 | SCN4A CL E G H | 6329 | 99736 | | | | ORPHA | 0 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0040267 | Distal upper limb muscle hypertrophy | 2 | SCN4A CL E G H | 6329 | 99734 | | | | ORPHA | 0 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | SCN4A CL E G H | 6329 | 682 | | | | ORPHA | 0 | | 1391 | 10591 | 603967 |
HP:0003712 | HP:0030284 | Triangular tongue | 2 | SMAD4 CL E G H | 4089 | 139210 | Myhre syndrome | 139210 | C0796081 | OMIM | 0 | | 1739 | 6770 | 600993 |
HP:0003712 | HP:0003733 | Thigh hypertrophy | 2 | SMAD4 CL E G H | 4089 | 139210 | Myhre syndrome | 139210 | C0796081 | OMIM | 0 | | 1739 | 6770 | 600993 |
HP:0003712 | HP:0040266 | Proximal upper limb muscle hypertrophy | 2 | SMAD4 CL E G H | 4089 | 139210 | Myhre syndrome | 139210 | C0796081 | OMIM | 0 | | 1739 | 6770 | 600993 |
HP:0003712 | HP:0100875 | Hemimacroglossia | 2 | SMAD4 CL E G H | 4089 | 139210 | Myhre syndrome | 139210 | C0796081 | OMIM | 0 | | 1739 | 6770 | 600993 |
HP:0003712 | HP:0040267 | Distal upper limb muscle hypertrophy | 2 | SMAD4 CL E G H | 4089 | 139210 | Myhre syndrome | 139210 | C0796081 | OMIM | 0 | | 1739 | 6770 | 600993 |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | SMAD4 CL E G H | 4089 | 139210 | Myhre syndrome | 139210 | C0796081 | OMIM | 0 | | 1739 | 6770 | 600993 |