Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | ABCC8 CL E G H | 6833 | 59 | ORPHA:99886 | Transient neonatal diabetes mellitus | | | | 245 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | ACTB CL E G H | 60 | 132 | ORPHA:79107 | Developmental malformations-deafness-dystonia syndrome | | | | 72 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | AFF4 CL E G H | 27125 | 17869 | ORPHA:444077 | Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome | | | | 6 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | AGA CL E G H | 175 | 318 | ORPHA:93 | Aspartylglucosaminuria | | | | 76 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | AGA CL E G H | 175 | 318 | OMIM:208400 | ASPARTYLGLUCOSAMINURIA | | | | 76 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | AGPAT2 CL E G H | 10555 | 325 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040281 - Very frequent | | | 85 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | AIP CL E G H | 9049 | 358 | ORPHA:963 | Acromegaly | | | | 95 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:201 | Cowden syndrome | | | | 54 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | ALG3 CL E G H | 10195 | 23056 | ORPHA:79321 | ALG3-CDG | | | | 37 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | ALG6 CL E G H | 29929 | 23157 | ORPHA:79320 | ALG6-CDG | | | | 66 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | ALG8 CL E G H | 79053 | 23161 | ORPHA:79325 | ALG8-CDG | | | | 46 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | AMPD2 CL E G H | 271 | 469 | OMIM:615809 | Pontocerebellar hypoplasia, type 9 | | | | 21 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | ANO5 CL E G H | 203859 | 27337 | ORPHA:206549 | Anoctamin-5-related limb-girdle muscular dystrophy R12 | | | | 304 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | ANO5 CL E G H | 203859 | 27337 | OMIM:613319 | Miyoshi muscular dystrophy 3 | | | | 304 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | ANO5 CL E G H | 203859 | 27337 | OMIM:611307 | Muscular dystrophy, limb-girdle, type 2L | | | | 304 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | AR CL E G H | 367 | 644 | OMIM:313200 | Spinal and bulbar muscular atrophy, X-linked 1 | | | | 125 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | ARCN1 CL E G H | 372 | 649 | OMIM:617164 | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | | | | 3 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | ARID1A CL E G H | 8289 | 11110 | OMIM:614607 | Coffin-Siris syndrome 2 | | | | 88 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | ARSB CL E G H | 411 | 714 | OMIM:253200 | Mucopolysaccharidosis, type VI | | | | 120 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:3473 | Zimmermann-Laband syndrome | | | | 5 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | ATP6V1B2 CL E G H | 526 | 854 | OMIM:616455 | Zimmermann-Laband syndrome 2 | | | | 5 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | ATRX CL E G H | 546 | 886 | ORPHA:847 | Alpha-thalassemia-X-linked intellectual disability syndrome | | | | 169 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | ATRX CL E G H | 546 | 886 | OMIM:301040 | Alpha-Thalassemia/mental retardation syndrome, X-linked | | | | 169 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | ATRX CL E G H | 546 | 886 | OMIM:309580 | Mental retardation-hypotonic facies syndrome, X-linked, 1 | | | | 169 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | BIN1 CL E G H | 274 | 1052 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 99 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | BSCL2 CL E G H | 26580 | 15832 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040281 - Very frequent | | | 105 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | CAPN3 CL E G H | 825 | 1480 | ORPHA:267 | Calpain-3-related limb-girdle muscular dystrophy R1 | | | | 323 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | CAV1 CL E G H | 857 | 1527 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040281 - Very frequent | | | 11 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | CAV3 CL E G H | 859 | 1529 | OMIM:614321 | Myopathy, distal, Tateyama type | | | | 148 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | CAV3 CL E G H | 859 | 1529 | OMIM:606072 | Rippling muscle disease | . | | | 148 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | CAVIN1 CL E G H | 284119 | 9688 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040281 - Very frequent | | | 48 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | CAVIN1 CL E G H | 284119 | 9688 | OMIM:613327 | Lipodystrophy, congenital generalized, type 4 | . | | | 48 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | CCDC47 CL E G H | 57003 | 24856 | OMIM:618268 | Trichohepatoneurodevelopmental syndrome | | | | | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | CDCA7 CL E G H | 83879 | 14628 | ORPHA:2268 | ICF syndrome | | | | 4 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | CDKN1C CL E G H | 1028 | 1786 | OMIM:130650 | Beckwith-Wiedemann syndrome | | | | 114 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | CHCHD10 CL E G H | 400916 | 15559 | OMIM:615048 | Spinal muscular atrophy, Jokela type | | | | 11 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | CIDEC CL E G H | 63924 | 24229 | ORPHA:435651 | CIDEC-related familial partial lipodystrophy | | | | 8 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | CIZ1 CL E G H | 25792 | 16744 | ORPHA:420492 | Adult-onset cervical dystonia, DYT23 type | | | | 16 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | CLCN1 CL E G H | 1180 | 2019 | OMIM:160800 | Myotonia congenita, autosomal dominant | | | | 133 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | CLCN1 CL E G H | 1180 | 2019 | OMIM:255700 | Myotonia congenita, autosomal recessive | | | | 133 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | CPSF3 CL E G H | 51692 | 2326 | OMIM:619876 | | | | | | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | CRPPA CL E G H | 729920 | 37276 | ORPHA:352479 | ISPD-related limb-girdle muscular dystrophy R20 | | | | | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | CRPPA CL E G H | 729920 | 37276 | OMIM:616052 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 | | | | | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | CUL4B CL E G H | 8450 | 2555 | OMIM:300354 | Mental retardation, X-linked, syndromic, Cabezas type | | | | 38 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | DAG1 CL E G H | 1605 | 2666 | ORPHA:280333 | Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 | | | | 108 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | DHX16 CL E G H | 8449 | 2739 | OMIM:618733 | NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS | | | | | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:254528 | Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion | | | | 1 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | DMD CL E G H | 1756 | 2928 | OMIM:310200 | Duchenne muscular dystrophy | | | | 1496 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | DMD CL E G H | 1756 | 2928 | ORPHA:98896 | Duchenne muscular dystrophy | | | | 1496 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | DMD CL E G H | 1756 | 2928 | ORPHA:206546 | Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers | | | | 1496 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | DNM2 CL E G H | 1785 | 2974 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 167 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | DNMT3B CL E G H | 1789 | 2979 | ORPHA:2268 | ICF syndrome | | | | 79 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | DNMT3B CL E G H | 1789 | 2979 | OMIM:242860 | Immunodeficiency-Centromeric instability-facial anomalies syndrome | | | | 79 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | DPM3 CL E G H | 54344 | 3007 | ORPHA:263494 | DPM3-CDG | | | | 9 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | DUOX2 CL E G H | 50506 | 13273 | ORPHA:95716 | Familial thyroid dyshormonogenesis | | | | 121 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | DUOX2 CL E G H | 50506 | 13273 | ORPHA:226316 | Genetic transient congenital hypothyroidism | | | | 121 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | DUOXA2 CL E G H | 405753 | 32698 | ORPHA:95716 | Familial thyroid dyshormonogenesis | | | | 11 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | DVL1 CL E G H | 1855 | 3084 | OMIM:180700 | Robinow syndrome, autosomal dominant 1 | | | | 14 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | DYSF CL E G H | 8291 | 3097 | ORPHA:268 | Dysferlin-related limb-girdle muscular dystrophy R2 | | | | 600 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | DYSF CL E G H | 8291 | 3097 | ORPHA:45448 | Miyoshi myopathy | | | | 600 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | EHMT1 CL E G H | 79813 | 24650 | OMIM:610253 | Kleefstra syndrome | | | | 223 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | EHMT1 CL E G H | 79813 | 24650 | ORPHA:96147 | Kleefstra syndrome due to 9q34 microdeletion | | | | 223 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | | | | 172 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | ERLIN2 CL E G H | 11160 | 1356 | ORPHA:209951 | Autosomal recessive spastic paraplegia type 18 | | | | 18 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | ERLIN2 CL E G H | 11160 | 1356 | ORPHA:280384 | Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome | | | | 18 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | FDX2 CL E G H | 112812 | 30546 | OMIM:251900 | Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy | | | | | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | FHL1 CL E G H | 2273 | 3702 | OMIM:300696 | Myopathy, X-linked, with postural muscle atrophy | | | | 68 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | FHL1 CL E G H | 2273 | 3702 | OMIM:300280 | Uruguay faciocardiomusculoskeletal syndrome | | | | 68 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | FIBP CL E G H | 9158 | 3705 | ORPHA:500095 | Tall stature-intellectual disability-renal anomalies syndrome | | | | 2 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | FIBP CL E G H | 9158 | 3705 | OMIM:617107 | Thauvin-Robinet-Faivre syndrome | | | | 2 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040282 - Frequent | | | 157 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040283 - Occasional | | | 157 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:34515 | FKRP-related limb-girdle muscular dystrophy R9 | | | | 157 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | FKRP CL E G H | 79147 | 17997 | OMIM:606612 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5 | | | | 157 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | FKRP CL E G H | 79147 | 17997 | OMIM:607155 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 | | | | 157 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | FKTN CL E G H | 2218 | 3622 | OMIM:611615 | Cardiomyopathy, dilated, 1X | | | | 184 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | FKTN CL E G H | 2218 | 3622 | OMIM:253800 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 | | | | 184 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | FKTN CL E G H | 2218 | 3622 | OMIM:611588 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 | . | | | 184 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | FOS CL E G H | 2353 | 3796 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040281 - Very frequent | | | | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | FOXE1 CL E G H | 2304 | 3806 | ORPHA:95713 | Athyreosis | | | | 9 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | FOXG1 CL E G H | 2290 | 3811 | ORPHA:261144 | FOXG1 syndrome due to 14q12 microdeletion | | | | 177 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | FRG1 CL E G H | 2483 | 3954 | OMIM:158900 | Facioscapulohumeral muscular dystrophy 1 | | | | 1 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | FUCA1 CL E G H | 2517 | 4006 | OMIM:230000 | FUCOSIDOSIS | | | | 43 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | GAA CL E G H | 2548 | 4065 | ORPHA:308552 | Glycogen storage disease due to acid maltase deficiency, infantile onset | | | | 407 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | GAA CL E G H | 2548 | 4065 | OMIM:232300 | Glycogen storage disease II | | | | 407 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | GATA1 CL E G H | 2623 | 4170 | OMIM:190685 | Down syndrometrisomy 21, included | | | | 29 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | GLB1 CL E G H | 2720 | 4298 | ORPHA:79255 | GM1 gangliosidosis type 1 | | | | 120 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | GMPPB CL E G H | 29925 | 22932 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040282 - Frequent | | | 34 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | GMPPB CL E G H | 29925 | 22932 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040283 - Occasional | | | 34 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | GNE CL E G H | 10020 | 23657 | OMIM:269921 | SIALURIA | | | | 173 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252500 | Mucolipidosis II alpha/beta | | | | 240 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | GNS CL E G H | 2799 | 4422 | OMIM:252940 | Mucopolysaccharidosis, type IIID | | | | 69 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | GPC3 CL E G H | 2719 | 4451 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | | | | 73 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | GPC3 CL E G H | 2719 | 4451 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | 73 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | GPC4 CL E G H | 2239 | 4452 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | | | | | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | GPC4 CL E G H | 2239 | 4452 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | GPR101 CL E G H | 83550 | 14963 | ORPHA:963 | Acromegaly | | | | 5 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | GUSB CL E G H | 2990 | 4696 | OMIM:253220 | Mucopolysaccharidosis, type VII | | | | 54 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | H19-ICR CL E G H | 105259599 | | OMIM:130650 | Beckwith-Wiedemann syndrome | | | | | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | HELLS CL E G H | 3070 | 4861 | ORPHA:2268 | ICF syndrome | | | | 6 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | HESX1 CL E G H | 8820 | 4877 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 21 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | HEXB CL E G H | 3074 | 4879 | OMIM:268800 | Sandhoff disease | | | | 80 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:352665 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion | | | | 8 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:453504 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation | | | | 8 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | HRAS CL E G H | 3265 | 5173 | OMIM:218040 | Costello syndrome | | | | 113 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | HRAS CL E G H | 3265 | 5173 | ORPHA:3071 | Costello syndrome | | | | 113 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | HS2ST1 CL E G H | 9653 | 5193 | OMIM:619194 | NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA | | | | | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:800 | Schwartz-Jampel syndrome | HP:0040282 - Frequent | | | 345 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | HSPG2 CL E G H | 3339 | 5273 | OMIM:255800 | Schwartz-jampel syndrome, type 1 | . | | | 345 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | HYMAI CL E G H | 57061 | 5326 | ORPHA:96191 | Paternal uniparental disomy of chromosome 6 | | | | | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | HYMAI CL E G H | 57061 | 5326 | ORPHA:99886 | Transient neonatal diabetes mellitus | | | | | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | IDS CL E G H | 3423 | 5389 | ORPHA:217093 | Mucopolysaccharidosis type 2, attenuated form | | | | 86 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | IDS CL E G H | 3423 | 5389 | ORPHA:217085 | Mucopolysaccharidosis type 2, severe form | | | | 86 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | IDS CL E G H | 3423 | 5389 | OMIM:309900 | Mucopolysaccharidosis, type II | | | | 86 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | IDUA CL E G H | 3425 | 5391 | OMIM:607014 | Hurler syndrome | | | | 115 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | IDUA CL E G H | 3425 | 5391 | ORPHA:93473 | Hurler syndrome | | | | 115 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | | | | 148 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | IGF2 CL E G H | 3481 | 5466 | OMIM:130650 | Beckwith-Wiedemann syndrome | | | | 9 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | IL6ST CL E G H | 3572 | 6021 | OMIM:618523 | HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B | | | | | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | INPP5E CL E G H | 56623 | 21474 | OMIM:213300 | Joubert syndrome 1 | | | | 111 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | INSR CL E G H | 3643 | 6091 | ORPHA:769 | Rabson-Mendenhall syndrome | | | | 229 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | IPO8 CL E G H | 10526 | 9853 | OMIM:619472 | VISS syndrome | | | | | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | IYD CL E G H | 389434 | 21071 | ORPHA:95716 | Familial thyroid dyshormonogenesis | | | | 130 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | JAG2 CL E G H | 3714 | 6189 | OMIM:619566 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27 | | | | 1 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | KCNA1 CL E G H | 3736 | 6218 | ORPHA:37612 | Episodic ataxia type 1 | | | | 145 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | KCNH1 CL E G H | 3756 | 6250 | ORPHA:3473 | Zimmermann-Laband syndrome | | | | 13 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:99886 | Transient neonatal diabetes mellitus | | | | 127 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | KCNMA1 CL E G H | 3778 | 6284 | OMIM:618729 | LIANG-WANG SYNDROME; LIWAS | | | | 114 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | KCNN3 CL E G H | 3782 | 6292 | ORPHA:3473 | Zimmermann-Laband syndrome | | | | 7 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | KCNQ1 CL E G H | 3784 | 6294 | OMIM:130650 | Beckwith-Wiedemann syndrome | | | | 730 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | KCNQ1OT1 CL E G H | 10984 | 6295 | OMIM:130650 | Beckwith-Wiedemann syndrome | | | | 1 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | KLLN CL E G H | 100144748 | 37212 | ORPHA:201 | Cowden syndrome | | | | 1 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | LAMA2 CL E G H | 3908 | 6482 | ORPHA:258 | Laminin subunit alpha 2-related congenital muscular dystrophy | | | | 411 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | LAMA2 CL E G H | 3908 | 6482 | OMIM:618138 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23 | | | | 411 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | LARGE1 CL E G H | 9215 | 6511 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040283 - Occasional | | | 136 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | LARGE1 CL E G H | 9215 | 6511 | OMIM:608840 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6 | . | | | 136 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | LHX3 CL E G H | 8022 | 6595 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 51 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | LHX4 CL E G H | 89884 | 21734 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 43 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | LIMS2 CL E G H | 55679 | 16084 | OMIM:616827 | Muscular dystrophy, limb-girdle, type 2W | | | | 10 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | LIPE CL E G H | 3991 | 6621 | ORPHA:435660 | LIPE-related familial partial lipodystrophy | | | | 7 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:79474 | Atypical Werner syndrome | | | | 645 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:280365 | Autosomal semi-dominant severe lipodystrophic laminopathy | HP:0040281 - Very frequent | | | 645 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:2348 | Familial partial lipodystrophy, Dunnigan type | HP:0040281 - Very frequent | | | 645 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:151660 | Lipodystrophy, familial partial, type 2 | . | | | 645 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | LTBP4 CL E G H | 8425 | 6717 | ORPHA:98896 | Duchenne muscular dystrophy | | | | 92 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | MAN2B1 CL E G H | 4125 | 6826 | OMIM:248500 | Alpha-mannosidosis | | | | 136 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | MAN2B1 CL E G H | 4125 | 6826 | ORPHA:309288 | Alpha-mannosidosis, adult form | | | | 136 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | MAN2B1 CL E G H | 4125 | 6826 | ORPHA:309282 | Alpha-mannosidosis, infantile form | | | | 136 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | MAN2C1 CL E G H | 4123 | 6827 | OMIM:619775 | CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2 | | | | | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | MAP3K20 CL E G H | 51776 | 17797 | OMIM:617760 | Myopathy, centronuclear, 6, with fiber-type disproportion | | | | 2 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | MBD5 CL E G H | 55777 | 20444 | OMIM:156200 | Mental retardation, autosomal dominant 1 | | | | 252 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | MED13L CL E G H | 23389 | 22962 | ORPHA:369891 | Developmental delay-facial dysmorphism syndrome due to MED13L deficiency | | | | 74 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | MED13L CL E G H | 23389 | 22962 | OMIM:616789 | Mental retardation and distinctive facial features with or without cardiac defects | | | | 74 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:254528 | Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion | | | | 1 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | MICU1 CL E G H | 10367 | 1530 | OMIM:615673 | Myopathy with extrapyramidal signs | | | | 14 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | MPZ CL E G H | 4359 | 7225 | ORPHA:101082 | Charcot-Marie-Tooth disease type 1B | HP:0040282 - Frequent | | | 134 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | MSTN CL E G H | 2660 | 4223 | OMIM:614160 | MUSCLE HYPERTROPHY; MSLHP | | | | 34 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | MTMR14 CL E G H | 64419 | 26190 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 7 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | MYF6 CL E G H | 4618 | 7566 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 19 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | MYH7 CL E G H | 4625 | 7577 | OMIM:255160 | Myopathy, myosin storage, autosomal recessive | | | | 1269 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | | | | 13 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | NEK9 CL E G H | 91754 | 18591 | OMIM:617022 | Lethal congenital contracture syndrome 10 | | | | 9 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | NKX2-1 CL E G H | 7080 | 11825 | ORPHA:95713 | Athyreosis | | | | 51 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | NKX2-5 CL E G H | 1482 | 2488 | ORPHA:95713 | Athyreosis | | | | 90 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | NKX2-5 CL E G H | 1482 | 2488 | ORPHA:95712 | Thyroid ectopia | | | | 90 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | PAX8 CL E G H | 7849 | 8622 | ORPHA:95713 | Athyreosis | | | | 63 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | PAX8 CL E G H | 7849 | 8622 | OMIM:218700 | Hypothyroidism, congenital, nongoitrous, 2 | | | | 63 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | PAX8 CL E G H | 7849 | 8622 | ORPHA:95712 | Thyroid ectopia | | | | 63 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | PAX8 CL E G H | 7849 | 8622 | ORPHA:95720 | Thyroid hypoplasia | | | | 63 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | PEX1 CL E G H | 5189 | 8850 | OMIM:214100 | Peroxisome biogenesis disorder 1A (Zellweger) | | | | 169 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | PIGS CL E G H | 94005 | 14937 | OMIM:618143 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18 | | | | | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | PIGW CL E G H | 284098 | 23213 | OMIM:616025 | Glycosylphosphatidylinositol biosynthesis defect 11 | | | | 6 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | PIK3C2A CL E G H | 5286 | 8971 | OMIM:618440 | Oculoskeletodental syndrome | | | | | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:201 | Cowden syndrome | | | | 162 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | PLAGL1 CL E G H | 5325 | 9046 | ORPHA:96191 | Paternal uniparental disomy of chromosome 6 | | | | | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | PLAGL1 CL E G H | 5325 | 9046 | ORPHA:99886 | Transient neonatal diabetes mellitus | | | | | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | PLEC CL E G H | 5339 | 9069 | ORPHA:254361 | Plectin-related limb-girdle muscular dystrophy R17 | | | | 759 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | PLIN1 CL E G H | 5346 | 9076 | OMIM:613877 | Lipodystrophy, familial partial, type 4 | . | | | 19 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | PLIN1 CL E G H | 5346 | 9076 | ORPHA:280356 | PLIN1-related familial partial lipodystrophy | | | | 19 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | PMP22 CL E G H | 5376 | 9118 | ORPHA:101081 | Charcot-Marie-Tooth disease type 1A | | | | 79 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | POLR3A CL E G H | 11128 | 30074 | ORPHA:3455 | Wiedemann-Rautenstrauch syndrome | HP:0040282 - Frequent | | | 138 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | POMGNT1 CL E G H | 55624 | 19139 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040282 - Frequent | | | 180 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | POMGNT1 CL E G H | 55624 | 19139 | OMIM:613157 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 | . | | | 180 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | POMGNT2 CL E G H | 84892 | 25902 | OMIM:618135 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 | | | | 33 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | POMK CL E G H | 84197 | 26267 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040282 - Frequent | | | 18 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040282 - Frequent | | | 213 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040283 - Occasional | | | 213 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | POMT1 CL E G H | 10585 | 9202 | OMIM:613155 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 | | | | 213 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:86812 | POMT1-related limb-girdle muscular dystrophy R11 | | | | 213 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | POMT2 CL E G H | 29954 | 19743 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040282 - Frequent | | | 221 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | POMT2 CL E G H | 29954 | 19743 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040283 - Occasional | | | 221 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | POMT2 CL E G H | 29954 | 19743 | OMIM:613150 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 | . | | | 221 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | POMT2 CL E G H | 29954 | 19743 | OMIM:613156 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 | . | | | 221 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | POMT2 CL E G H | 29954 | 19743 | OMIM:613158 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 | . | | | 221 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | POMT2 CL E G H | 29954 | 19743 | ORPHA:206559 | POMT2-related limb-girdle muscular dystrophy R14 | | | | 221 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | POP1 CL E G H | 10940 | 30129 | OMIM:617396 | Anauxetic dysplasia 2 | | | | 6 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | POPDC3 CL E G H | 64208 | 17649 | OMIM:618848 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26; LGMDR26 | | | | | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 36 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | POU1F1 CL E G H | 5449 | 9210 | OMIM:613038 | Pituitary hormone deficiency, combined, 1 | | | | 36 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | PPARG CL E G H | 5468 | 9236 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040281 - Very frequent | | | 42 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | PPARG CL E G H | 5468 | 9236 | ORPHA:79083 | PPARG-related familial partial lipodystrophy | HP:0040281 - Very frequent | | | 42 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | PQBP1 CL E G H | 10084 | 9330 | ORPHA:93947 | X-linked intellectual disability, Golabi-Ito-Hall type | | | | 28 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | PRKAG2 CL E G H | 51422 | 9386 | OMIM:261740 | Glycogen storage disease of heart, lethal congenital | | | | 235 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | PROP1 CL E G H | 5626 | 9455 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 54 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | PRPS1 CL E G H | 5631 | 9462 | ORPHA:99014 | X-linked Charcot-Marie-Tooth disease type 5 | HP:0040281 - Very frequent | | | 49 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | PSMB8 CL E G H | 5696 | 9545 | OMIM:256040 | Proteasome-associated autoinflammatory syndrome 1 and digenic forms | | | | 20 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:201 | Cowden syndrome | | | | 948 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:65285 | Lhermitte-Duclos disease | | | | 948 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | RASA1 CL E G H | 5921 | 9871 | ORPHA:90307 | Parkes Weber syndrome | | | | 88 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | RMRP CL E G H | 6023 | 10031 | OMIM:607095 | Anauxetic dysplasia | | | | 37 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | RNF125 CL E G H | 54941 | 21150 | OMIM:616260 | Tenorio syndrome | | | | 5 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | ROR2 CL E G H | 4920 | 10257 | OMIM:268310 | Robinow syndrome, autosomal recessive | | | | 120 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:254528 | Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion | | | | | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 1200 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | SCN4A CL E G H | 6329 | 10591 | ORPHA:99736 | Acetazolamide-responsive myotonia | HP:0040283 - Occasional | | | 263 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | SCN4A CL E G H | 6329 | 10591 | ORPHA:682 | Hyperkalemic periodic paralysis | HP:0040283 - Occasional | | | 263 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | SCN4A CL E G H | 6329 | 10591 | ORPHA:99735 | Myotonia permanens | HP:0040283 - Occasional | | | 263 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | SCN4A CL E G H | 6329 | 10591 | OMIM:608390 | Myotonia, potassium-aggravated | . | | | 263 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | SCN4A CL E G H | 6329 | 10591 | OMIM:168300 | Paramyotonia congenita of von eulenburg | . | | | 263 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | SCN4A CL E G H | 6329 | 10591 | ORPHA:684 | Paramyotonia congenita of Von Eulenburg | | | | 263 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:201 | Cowden syndrome | | | | 237 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | SDHC CL E G H | 6391 | 10682 | ORPHA:201 | Cowden syndrome | | | | 147 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:201 | Cowden syndrome | | | | 129 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | SEC23B CL E G H | 10483 | 10702 | ORPHA:201 | Cowden syndrome | | | | 60 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | SETBP1 CL E G H | 26040 | 15573 | OMIM:269150 | Schinzel-Giedion midface-retraction syndrome | | | | 143 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | SETBP1 CL E G H | 26040 | 15573 | ORPHA:798 | Schinzel-Giedion syndrome | | | | 143 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | SGCA CL E G H | 6442 | 10805 | OMIM:608099 | Muscular dystrophy, limb-girdle, type 2D | | | | 132 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | SGCB CL E G H | 6443 | 10806 | ORPHA:119 | Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 | | | | 113 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | SGCD CL E G H | 6444 | 10807 | OMIM:601287 | Muscular dystrophy, limb-girdle, type 2F | | | | 223 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | SGCG CL E G H | 6445 | 10809 | ORPHA:353 | Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 | | | | 83 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | SHOX CL E G H | 6473 | 10853 | OMIM:127300 | Leri-Weill dyschondrosteosis | | | | 66 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | SHOX CL E G H | 6473 | 10853 | ORPHA:314795 | SHOX-related short stature | HP:0040281 - Very frequent | | | 66 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | SLC25A1 CL E G H | 6576 | 10979 | OMIM:618197 | Myasthenic syndrome, congenital, 23, presynaptic | | | | 28 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | SLC26A4 CL E G H | 5172 | 8818 | ORPHA:95713 | Athyreosis | | | | 274 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | SLC26A4 CL E G H | 5172 | 8818 | ORPHA:95720 | Thyroid hypoplasia | | | | 274 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | SLC5A5 CL E G H | 6528 | 11040 | ORPHA:95716 | Familial thyroid dyshormonogenesis | | | | 59 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | SLC5A5 CL E G H | 6528 | 11040 | OMIM:274400 | Thyroid hormonogenesis, genetic defect in, 1 | | | | 59 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | SMAD4 CL E G H | 4089 | 6770 | OMIM:139210 | Myhre syndrome | | | | 504 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:2588 | Myhre syndrome | HP:0040281 - Very frequent | | | 504 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | SMARCA4 CL E G H | 6597 | 11100 | OMIM:614609 | Coffin-Siris syndrome 4 | | | | 617 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | SMARCB1 CL E G H | 6598 | 11103 | OMIM:614608 | Coffin-Siris syndrome 3 | | | | 87 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | SMN1 CL E G H | 6606 | 11117 | OMIM:271150 | Spinal muscular atrophy, type IV | | | | 22 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | SNIP1 CL E G H | 79753 | 30587 | OMIM:614501 | Psychomotor retardation, epilepsy, and craniofacial dysmorphism | | | | 3 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | SNRPN CL E G H | 6638 | 11164 | OMIM:105830 | Angelman syndrome | | | | 37 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | SNX14 CL E G H | 57231 | 14977 | ORPHA:397709 | Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome | | | | 14 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | SNX14 CL E G H | 57231 | 14977 | OMIM:616354 | Spinocerebellar ataxia, autosomal recessive 20 | | | | 14 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | SRY CL E G H | 6736 | 11311 | ORPHA:1772 | 45,X/46,XY mixed gonadal dysgenesis | | | | 23 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | STT3A CL E G H | 3703 | 6172 | OMIM:619714 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD | | | | 21 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | TBCK CL E G H | 93627 | 28261 | OMIM:616900 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | | | | 13 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | TBCK CL E G H | 93627 | 28261 | ORPHA:488632 | TBCK-related intellectual disability syndrome | | | | 13 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | TCAP CL E G H | 8557 | 11610 | OMIM:601954 | Muscular dystrophy, limb-girdle, type 2G | | | | 78 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | TG CL E G H | 7038 | 11764 | ORPHA:95716 | Familial thyroid dyshormonogenesis | | | | 155 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | THRA CL E G H | 7067 | 11796 | OMIM:614450 | Hypothyroidism, congenital, nongoitrous, 6 | | | | 9 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | TPO CL E G H | 7173 | 12015 | ORPHA:95716 | Familial thyroid dyshormonogenesis | | | | 92 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | TRAF3IP2 CL E G H | 10758 | 1343 | OMIM:615527 | Candidiasis, familial, 8 | | | | 4 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | TRMU CL E G H | 55687 | 25481 | ORPHA:254864 | Mitochondrial myopathy with reversible cytochrome C oxidase deficiency | | | | 101 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | TRNE CL E G H | 4556 | 7479 | ORPHA:254864 | Mitochondrial myopathy with reversible cytochrome C oxidase deficiency | | | | | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | TSHB CL E G H | 7252 | 12372 | OMIM:275100 | Hypothyroidism, congenital, nongoitrous, 4 | | | | 9 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | TSHB CL E G H | 7252 | 12372 | ORPHA:90674 | Isolated thyroid-stimulating hormone deficiency | | | | 9 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | TSHR CL E G H | 7253 | 12373 | ORPHA:95713 | Athyreosis | | | | 97 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | TSHR CL E G H | 7253 | 12373 | ORPHA:90673 | Hypothyroidism due to TSH receptor mutations | | | | 97 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | TSHR CL E G H | 7253 | 12373 | ORPHA:95720 | Thyroid hypoplasia | | | | 97 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | TTN CL E G H | 7273 | 12403 | ORPHA:178464 | Hereditary myopathy with early respiratory failure | | | | 7128 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | TTN CL E G H | 7273 | 12403 | OMIM:603689 | Myopathy, myofibrillar, 9, with early respiratory failure | | | | 7128 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | TTN CL E G H | 7273 | 12403 | OMIM:611705 | Salih myopathy | | | | 7128 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | UBE3A CL E G H | 7337 | 12496 | OMIM:105830 | Angelman syndrome | | | | 278 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | UNC45B CL E G H | 146862 | 14304 | OMIM:619178 | MYOFIBRILLAR MYOPATHY 11; MFM11 | | | | 1 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | USF3 CL E G H | 205717 | 30494 | ORPHA:201 | Cowden syndrome | | | | 1 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | VPS33A CL E G H | 65082 | 18179 | ORPHA:505248 | Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders | | | | 1 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | VPS33A CL E G H | 65082 | 18179 | OMIM:617303 | Mucopolysaccharidosis-Plus syndrome | | | | 1 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | WNT5A CL E G H | 7474 | 12784 | OMIM:180700 | Robinow syndrome, autosomal dominant 1 | | | | 98 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | ZBTB24 CL E G H | 9841 | 21143 | ORPHA:2268 | ICF syndrome | | | | 9 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | ZEB2 CL E G H | 9839 | 14881 | OMIM:235730 | Mowat-Wilson syndrome | | | | 362 | | |
HP:0003712 | HP:0003712 | Skeletal muscle hypertrophy | 0 | ZFP57 CL E G H | 346171 | 18791 | ORPHA:99886 | Transient neonatal diabetes mellitus | | | | 30 | | |
HP:0003712 | HP:0012895 | Scapular muscle hypertrophy | 1 | CL E G H | | | | | | | | | | |
HP:0003712 | HP:0012894 | Paraspinal muscle hypertrophy | 1 | CL E G H | | | | | | | | | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | ABCC8 CL E G H | 6833 | 59 | ORPHA:99886 | Transient neonatal diabetes mellitus | HP:0040282 - Frequent | | | 245 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | ACTB CL E G H | 60 | 132 | ORPHA:79107 | Developmental malformations-deafness-dystonia syndrome | HP:0040281 - Very frequent | | | 72 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | AFF4 CL E G H | 27125 | 17869 | ORPHA:444077 | Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | AGA CL E G H | 175 | 318 | OMIM:208400 | ASPARTYLGLUCOSAMINURIA | . | | | 76 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | AGA CL E G H | 175 | 318 | ORPHA:93 | Aspartylglucosaminuria | HP:0040282 - Frequent | | | 76 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | AGPAT2 CL E G H | 10555 | 325 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040283 - Occasional | | | 85 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | AIP CL E G H | 9049 | 358 | ORPHA:963 | Acromegaly | HP:0040281 - Very frequent | | | 95 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | AKT1 CL E G H | 207 | 391 | ORPHA:201 | Cowden syndrome | HP:0040282 - Frequent | | | 54 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | ALG3 CL E G H | 10195 | 23056 | ORPHA:79321 | ALG3-CDG | HP:0040284 - Very rare | | | 37 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | ALG6 CL E G H | 29929 | 23157 | ORPHA:79320 | ALG6-CDG | HP:0040283 - Occasional | | | 66 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | ALG8 CL E G H | 79053 | 23161 | ORPHA:79325 | ALG8-CDG | HP:0040283 - Occasional | | | 46 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | AMPD2 CL E G H | 271 | 469 | OMIM:615809 | Pontocerebellar hypoplasia, type 9 | . | | | 21 | | |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | ANO5 CL E G H | 203859 | 27337 | ORPHA:206549 | Anoctamin-5-related limb-girdle muscular dystrophy R12 | | | | 304 | | |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | ANO5 CL E G H | 203859 | 27337 | OMIM:613319 | Miyoshi muscular dystrophy 3 | | | | 304 | | |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | ANO5 CL E G H | 203859 | 27337 | OMIM:611307 | Muscular dystrophy, limb-girdle, type 2L | | | | 304 | | |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | AR CL E G H | 367 | 644 | OMIM:313200 | Spinal and bulbar muscular atrophy, X-linked 1 | | | | 125 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | ARID1A CL E G H | 8289 | 11110 | OMIM:614607 | Coffin-Siris syndrome 2 | . | | | 88 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | ARSB CL E G H | 411 | 714 | OMIM:253200 | Mucopolysaccharidosis, type VI | . | | | 120 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:3473 | Zimmermann-Laband syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | ATP6V1B2 CL E G H | 526 | 854 | OMIM:616455 | Zimmermann-Laband syndrome 2 | . | | | 5 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | ATRX CL E G H | 546 | 886 | ORPHA:847 | Alpha-thalassemia-X-linked intellectual disability syndrome | HP:0040282 - Frequent | | | 169 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | ATRX CL E G H | 546 | 886 | OMIM:301040 | Alpha-Thalassemia/mental retardation syndrome, X-linked | . | | | 169 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | ATRX CL E G H | 546 | 886 | OMIM:309580 | Mental retardation-hypotonic facies syndrome, X-linked, 1 | . | | | 169 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | BIN1 CL E G H | 274 | 1052 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 99 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | BSCL2 CL E G H | 26580 | 15832 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040283 - Occasional | | | 105 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | CAPN3 CL E G H | 825 | 1480 | ORPHA:267 | Calpain-3-related limb-girdle muscular dystrophy R1 | | | | 323 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | CAV1 CL E G H | 857 | 1527 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040283 - Occasional | | | 11 | | |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | CAV3 CL E G H | 859 | 1529 | OMIM:614321 | Myopathy, distal, Tateyama type | | | | 148 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | CAVIN1 CL E G H | 284119 | 9688 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040283 - Occasional | | | 48 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | CCDC47 CL E G H | 57003 | 24856 | OMIM:618268 | Trichohepatoneurodevelopmental syndrome | . | | | | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | CDCA7 CL E G H | 83879 | 14628 | ORPHA:2268 | ICF syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | CDKN1C CL E G H | 1028 | 1786 | OMIM:130650 | Beckwith-Wiedemann syndrome | . | | | 114 | | |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | CHCHD10 CL E G H | 400916 | 15559 | OMIM:615048 | Spinal muscular atrophy, Jokela type | | | | 11 | | |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | CIDEC CL E G H | 63924 | 24229 | ORPHA:435651 | CIDEC-related familial partial lipodystrophy | | | | 8 | | |
HP:0003712 | HP:0012893 | Neck muscle hypertrophy | 1 | CIZ1 CL E G H | 25792 | 16744 | ORPHA:420492 | Adult-onset cervical dystonia, DYT23 type | HP:0040282 - Frequent | | | 16 | | |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | CLCN1 CL E G H | 1180 | 2019 | OMIM:255700 | Myotonia congenita, autosomal recessive | . | | | 133 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | CPSF3 CL E G H | 51692 | 2326 | OMIM:619876 | | | | | | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | CRPPA CL E G H | 729920 | 37276 | ORPHA:352479 | ISPD-related limb-girdle muscular dystrophy R20 | HP:0040282 - Frequent | | | | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | CRPPA CL E G H | 729920 | 37276 | OMIM:616052 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 | . | | | | | |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | CRPPA CL E G H | 729920 | 37276 | OMIM:616052 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 | | | | | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | CUL4B CL E G H | 8450 | 2555 | OMIM:300354 | Mental retardation, X-linked, syndromic, Cabezas type | . | | | 38 | | |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | DAG1 CL E G H | 1605 | 2666 | ORPHA:280333 | Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 | | | | 108 | | |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | DHX16 CL E G H | 8449 | 2739 | OMIM:618733 | NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS | | | | | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | DLK1 CL E G H | 8788 | 2907 | ORPHA:254528 | Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion | HP:0040283 - Occasional | | | 1 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040282 - Frequent | | | 1 | | |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | DMD CL E G H | 1756 | 2928 | OMIM:310200 | Duchenne muscular dystrophy | | | | 1496 | | |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | DMD CL E G H | 1756 | 2928 | ORPHA:98896 | Duchenne muscular dystrophy | | | | 1496 | | |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | DMD CL E G H | 1756 | 2928 | ORPHA:206546 | Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers | | | | 1496 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | DNM2 CL E G H | 1785 | 2974 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 167 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | DNMT3B CL E G H | 1789 | 2979 | ORPHA:2268 | ICF syndrome | HP:0040283 - Occasional | | | 79 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | DNMT3B CL E G H | 1789 | 2979 | OMIM:242860 | Immunodeficiency-Centromeric instability-facial anomalies syndrome | . | | | 79 | | |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | DPM3 CL E G H | 54344 | 3007 | ORPHA:263494 | DPM3-CDG | | | | 9 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | DUOX2 CL E G H | 50506 | 13273 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040283 - Occasional | | | 121 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | DUOX2 CL E G H | 50506 | 13273 | ORPHA:226316 | Genetic transient congenital hypothyroidism | HP:0040283 - Occasional | | | 121 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | DUOXA2 CL E G H | 405753 | 32698 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040283 - Occasional | | | 11 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | DVL1 CL E G H | 1855 | 3084 | OMIM:180700 | Robinow syndrome, autosomal dominant 1 | . | | | 14 | | |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | DYSF CL E G H | 8291 | 3097 | ORPHA:268 | Dysferlin-related limb-girdle muscular dystrophy R2 | | | | 600 | | |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | DYSF CL E G H | 8291 | 3097 | ORPHA:45448 | Miyoshi myopathy | | | | 600 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | EHMT1 CL E G H | 79813 | 24650 | OMIM:610253 | Kleefstra syndrome | | | | 223 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | EHMT1 CL E G H | 79813 | 24650 | ORPHA:96147 | Kleefstra syndrome due to 9q34 microdeletion | HP:0040282 - Frequent | | | 223 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 172 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | ERLIN2 CL E G H | 11160 | 1356 | ORPHA:209951 | Autosomal recessive spastic paraplegia type 18 | HP:0040282 - Frequent | | | 18 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | ERLIN2 CL E G H | 11160 | 1356 | ORPHA:280384 | Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome | HP:0040282 - Frequent | | | 18 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | FDX2 CL E G H | 112812 | 30546 | OMIM:251900 | Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy | . | | | | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | FIBP CL E G H | 9158 | 3705 | ORPHA:500095 | Tall stature-intellectual disability-renal anomalies syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | FIBP CL E G H | 9158 | 3705 | OMIM:617107 | Thauvin-Robinet-Faivre syndrome | . | | | 2 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | FKRP CL E G H | 79147 | 17997 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040282 - Frequent | | | 157 | | |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | FKRP CL E G H | 79147 | 17997 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | | | | 157 | | |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | FKRP CL E G H | 79147 | 17997 | ORPHA:34515 | FKRP-related limb-girdle muscular dystrophy R9 | | | | 157 | | |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | FKRP CL E G H | 79147 | 17997 | OMIM:606612 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5 | | | | 157 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | FKRP CL E G H | 79147 | 17997 | OMIM:606612 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5 | . | | | 157 | | |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | FKRP CL E G H | 79147 | 17997 | OMIM:607155 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 | | | | 157 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | FKRP CL E G H | 79147 | 17997 | OMIM:607155 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 | . | | | 157 | | |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | FKTN CL E G H | 2218 | 3622 | OMIM:611615 | Cardiomyopathy, dilated, 1X | | | | 184 | | |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | FKTN CL E G H | 2218 | 3622 | OMIM:253800 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 | | | | 184 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | FOS CL E G H | 2353 | 3796 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040283 - Occasional | | | | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | FOXE1 CL E G H | 2304 | 3806 | ORPHA:95713 | Athyreosis | HP:0040281 - Very frequent | | | 9 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | FOXG1 CL E G H | 2290 | 3811 | ORPHA:261144 | FOXG1 syndrome due to 14q12 microdeletion | HP:0040282 - Frequent | | | 177 | | |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | FRG1 CL E G H | 2483 | 3954 | OMIM:158900 | Facioscapulohumeral muscular dystrophy 1 | | | | 1 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | FUCA1 CL E G H | 2517 | 4006 | OMIM:230000 | FUCOSIDOSIS | . | | | 43 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | GAA CL E G H | 2548 | 4065 | ORPHA:308552 | Glycogen storage disease due to acid maltase deficiency, infantile onset | HP:0040282 - Frequent | | | 407 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | GAA CL E G H | 2548 | 4065 | OMIM:232300 | Glycogen storage disease II | . | | | 407 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | GATA1 CL E G H | 2623 | 4170 | OMIM:190685 | Down syndrometrisomy 21, included | . | | | 29 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | GLB1 CL E G H | 2720 | 4298 | ORPHA:79255 | GM1 gangliosidosis type 1 | HP:0040283 - Occasional | | | 120 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | GMPPB CL E G H | 29925 | 22932 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040282 - Frequent | | | 34 | | |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | GMPPB CL E G H | 29925 | 22932 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | | | | 34 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | GNE CL E G H | 10020 | 23657 | OMIM:269921 | SIALURIA | | | | 173 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252500 | Mucolipidosis II alpha/beta | . | | | 240 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | GNS CL E G H | 2799 | 4422 | OMIM:252940 | Mucopolysaccharidosis, type IIID | | | | 69 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | GPC3 CL E G H | 2719 | 4451 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | HP:0040281 - Very frequent | | | 73 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | GPC3 CL E G H | 2719 | 4451 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | 73 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | GPC4 CL E G H | 2239 | 4452 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | HP:0040281 - Very frequent | | | | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | GPC4 CL E G H | 2239 | 4452 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | GPR101 CL E G H | 83550 | 14963 | ORPHA:963 | Acromegaly | HP:0040281 - Very frequent | | | 5 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | GUSB CL E G H | 2990 | 4696 | OMIM:253220 | Mucopolysaccharidosis, type VII | | | | 54 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | H19-ICR CL E G H | 105259599 | | OMIM:130650 | Beckwith-Wiedemann syndrome | . | | | | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | HELLS CL E G H | 3070 | 4861 | ORPHA:2268 | ICF syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | HESX1 CL E G H | 8820 | 4877 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040282 - Frequent | | | 21 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | HEXB CL E G H | 3074 | 4879 | OMIM:268800 | Sandhoff disease | . | | | 80 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:352665 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion | HP:0040282 - Frequent | | | 8 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:453504 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation | HP:0040282 - Frequent | | | 8 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | HRAS CL E G H | 3265 | 5173 | ORPHA:3071 | Costello syndrome | HP:0040282 - Frequent | | | 113 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | HRAS CL E G H | 3265 | 5173 | OMIM:218040 | Costello syndrome | . | | | 113 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | HS2ST1 CL E G H | 9653 | 5193 | OMIM:619194 | NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA | | | | | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | HYMAI CL E G H | 57061 | 5326 | ORPHA:96191 | Paternal uniparental disomy of chromosome 6 | HP:0040281 - Very frequent | | | | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | HYMAI CL E G H | 57061 | 5326 | ORPHA:99886 | Transient neonatal diabetes mellitus | HP:0040282 - Frequent | | | | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | IDS CL E G H | 3423 | 5389 | ORPHA:217093 | Mucopolysaccharidosis type 2, attenuated form | HP:0040282 - Frequent | | | 86 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | IDS CL E G H | 3423 | 5389 | ORPHA:217085 | Mucopolysaccharidosis type 2, severe form | HP:0040282 - Frequent | | | 86 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | IDS CL E G H | 3423 | 5389 | OMIM:309900 | Mucopolysaccharidosis, type II | . | | | 86 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | IDUA CL E G H | 3425 | 5391 | ORPHA:93473 | Hurler syndrome | HP:0040282 - Frequent | | | 115 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | IDUA CL E G H | 3425 | 5391 | OMIM:607014 | Hurler syndrome | | | | 115 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | . | | | 148 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | IGF2 CL E G H | 3481 | 5466 | OMIM:130650 | Beckwith-Wiedemann syndrome | . | | | 9 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | IL6ST CL E G H | 3572 | 6021 | OMIM:618523 | HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B | | | | | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | INPP5E CL E G H | 56623 | 21474 | OMIM:213300 | Joubert syndrome 1 | . | | | 111 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | INSR CL E G H | 3643 | 6091 | ORPHA:769 | Rabson-Mendenhall syndrome | HP:0040283 - Occasional | | | 229 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | IPO8 CL E G H | 10526 | 9853 | OMIM:619472 | VISS syndrome | | | | | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | IYD CL E G H | 389434 | 21071 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040283 - Occasional | | | 130 | | |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | KCNA1 CL E G H | 3736 | 6218 | ORPHA:37612 | Episodic ataxia type 1 | | | | 145 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | KCNH1 CL E G H | 3756 | 6250 | ORPHA:3473 | Zimmermann-Laband syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:99886 | Transient neonatal diabetes mellitus | HP:0040282 - Frequent | | | 127 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | KCNMA1 CL E G H | 3778 | 6284 | OMIM:618729 | LIANG-WANG SYNDROME; LIWAS | | | | 114 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | KCNN3 CL E G H | 3782 | 6292 | ORPHA:3473 | Zimmermann-Laband syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | KCNQ1 CL E G H | 3784 | 6294 | OMIM:130650 | Beckwith-Wiedemann syndrome | . | | | 730 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | KCNQ1OT1 CL E G H | 10984 | 6295 | OMIM:130650 | Beckwith-Wiedemann syndrome | . | | | 1 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | KLLN CL E G H | 100144748 | 37212 | ORPHA:201 | Cowden syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | LAMA2 CL E G H | 3908 | 6482 | ORPHA:258 | Laminin subunit alpha 2-related congenital muscular dystrophy | HP:0040282 - Frequent | | | 411 | | |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | LAMA2 CL E G H | 3908 | 6482 | OMIM:618138 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23 | | | | 411 | | |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | LARGE1 CL E G H | 9215 | 6511 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | | | | 136 | | |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | LARGE1 CL E G H | 9215 | 6511 | OMIM:608840 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6 | | | | 136 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | LHX3 CL E G H | 8022 | 6595 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040282 - Frequent | | | 51 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | LHX4 CL E G H | 89884 | 21734 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040282 - Frequent | | | 43 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | LIMS2 CL E G H | 55679 | 16084 | OMIM:616827 | Muscular dystrophy, limb-girdle, type 2W | | | | 10 | | |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | LIMS2 CL E G H | 55679 | 16084 | OMIM:616827 | Muscular dystrophy, limb-girdle, type 2W | | | | 10 | | |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:79474 | Atypical Werner syndrome | | | | 645 | | |
HP:0003712 | HP:0040265 | Upper limb muscle hypertrophy | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:280365 | Autosomal semi-dominant severe lipodystrophic laminopathy | | | | 645 | | |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:280365 | Autosomal semi-dominant severe lipodystrophic laminopathy | HP:0040282 - Frequent | | | 645 | | |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | LTBP4 CL E G H | 8425 | 6717 | ORPHA:98896 | Duchenne muscular dystrophy | | | | 92 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | MAN2B1 CL E G H | 4125 | 6826 | OMIM:248500 | Alpha-mannosidosis | . | | | 136 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | MAN2B1 CL E G H | 4125 | 6826 | ORPHA:309288 | Alpha-mannosidosis, adult form | HP:0040283 - Occasional | | | 136 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | MAN2B1 CL E G H | 4125 | 6826 | ORPHA:309282 | Alpha-mannosidosis, infantile form | HP:0040283 - Occasional | | | 136 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | MAN2C1 CL E G H | 4123 | 6827 | OMIM:619775 | CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2 | | | | | | |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | MAP3K20 CL E G H | 51776 | 17797 | OMIM:617760 | Myopathy, centronuclear, 6, with fiber-type disproportion | | | | 2 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | MBD5 CL E G H | 55777 | 20444 | OMIM:156200 | Mental retardation, autosomal dominant 1 | | | | 252 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | MED13L CL E G H | 23389 | 22962 | ORPHA:369891 | Developmental delay-facial dysmorphism syndrome due to MED13L deficiency | HP:0040282 - Frequent | | | 74 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | MED13L CL E G H | 23389 | 22962 | OMIM:616789 | Mental retardation and distinctive facial features with or without cardiac defects | . | | | 74 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | MEG3 CL E G H | 55384 | 14575 | ORPHA:254528 | Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion | HP:0040283 - Occasional | | | 1 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040282 - Frequent | | | 1 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | MICU1 CL E G H | 10367 | 1530 | OMIM:615673 | Myopathy with extrapyramidal signs | | | | 14 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | MTMR14 CL E G H | 64419 | 26190 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 7 | | |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | MYF6 CL E G H | 4618 | 7566 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 19 | | |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | MYH7 CL E G H | 4625 | 7577 | OMIM:255160 | Myopathy, myosin storage, autosomal recessive | | | | 1269 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 13 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | NEK9 CL E G H | 91754 | 18591 | OMIM:617022 | Lethal congenital contracture syndrome 10 | | | | 9 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | NKX2-1 CL E G H | 7080 | 11825 | ORPHA:95713 | Athyreosis | HP:0040281 - Very frequent | | | 51 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | NKX2-5 CL E G H | 1482 | 2488 | ORPHA:95713 | Athyreosis | HP:0040281 - Very frequent | | | 90 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | NKX2-5 CL E G H | 1482 | 2488 | ORPHA:95712 | Thyroid ectopia | HP:0040281 - Very frequent | | | 90 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | PAX8 CL E G H | 7849 | 8622 | ORPHA:95713 | Athyreosis | HP:0040281 - Very frequent | | | 63 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | PAX8 CL E G H | 7849 | 8622 | OMIM:218700 | Hypothyroidism, congenital, nongoitrous, 2 | . | | | 63 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | PAX8 CL E G H | 7849 | 8622 | ORPHA:95712 | Thyroid ectopia | HP:0040281 - Very frequent | | | 63 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | PAX8 CL E G H | 7849 | 8622 | ORPHA:95720 | Thyroid hypoplasia | HP:0040281 - Very frequent | | | 63 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | PEX1 CL E G H | 5189 | 8850 | OMIM:214100 | Peroxisome biogenesis disorder 1A (Zellweger) | . | | | 169 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | PIGS CL E G H | 94005 | 14937 | OMIM:618143 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18 | | | | | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | PIGW CL E G H | 284098 | 23213 | OMIM:616025 | Glycosylphosphatidylinositol biosynthesis defect 11 | . | | | 6 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | PIK3C2A CL E G H | 5286 | 8971 | OMIM:618440 | Oculoskeletodental syndrome | . | | | | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:201 | Cowden syndrome | HP:0040282 - Frequent | | | 162 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | PLAGL1 CL E G H | 5325 | 9046 | ORPHA:96191 | Paternal uniparental disomy of chromosome 6 | HP:0040281 - Very frequent | | | | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | PLAGL1 CL E G H | 5325 | 9046 | ORPHA:99886 | Transient neonatal diabetes mellitus | HP:0040282 - Frequent | | | | | |
HP:0003712 | HP:0040265 | Upper limb muscle hypertrophy | 1 | PLEC CL E G H | 5339 | 9069 | ORPHA:254361 | Plectin-related limb-girdle muscular dystrophy R17 | | | | 759 | | |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | PLEC CL E G H | 5339 | 9069 | ORPHA:254361 | Plectin-related limb-girdle muscular dystrophy R17 | | | | 759 | | |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | PLIN1 CL E G H | 5346 | 9076 | ORPHA:280356 | PLIN1-related familial partial lipodystrophy | | | | 19 | | |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | PMP22 CL E G H | 5376 | 9118 | ORPHA:101081 | Charcot-Marie-Tooth disease type 1A | | | | 79 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | POMGNT1 CL E G H | 55624 | 19139 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040282 - Frequent | | | 180 | | |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | POMGNT1 CL E G H | 55624 | 19139 | OMIM:613157 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 | | | | 180 | | |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | POMGNT2 CL E G H | 84892 | 25902 | OMIM:618135 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 | | | | 33 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | POMK CL E G H | 84197 | 26267 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040282 - Frequent | | | 18 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040282 - Frequent | | | 213 | | |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | | | | 213 | | |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | POMT1 CL E G H | 10585 | 9202 | OMIM:613155 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 | | | | 213 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | POMT1 CL E G H | 10585 | 9202 | OMIM:613155 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 | . | | | 213 | | |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | POMT1 CL E G H | 10585 | 9202 | ORPHA:86812 | POMT1-related limb-girdle muscular dystrophy R11 | | | | 213 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | POMT2 CL E G H | 29954 | 19743 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040282 - Frequent | | | 221 | | |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | POMT2 CL E G H | 29954 | 19743 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | | | | 221 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | POMT2 CL E G H | 29954 | 19743 | OMIM:613150 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 | . | | | 221 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | POMT2 CL E G H | 29954 | 19743 | OMIM:613156 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 | . | | | 221 | | |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | POMT2 CL E G H | 29954 | 19743 | ORPHA:206559 | POMT2-related limb-girdle muscular dystrophy R14 | | | | 221 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | POP1 CL E G H | 10940 | 30129 | OMIM:617396 | Anauxetic dysplasia 2 | HP:0040283 - Occasional | | | 6 | | |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | POPDC3 CL E G H | 64208 | 17649 | OMIM:618848 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26; LGMDR26 | | | | | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040282 - Frequent | | | 36 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | POU1F1 CL E G H | 5449 | 9210 | OMIM:613038 | Pituitary hormone deficiency, combined, 1 | . | | | 36 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | PPARG CL E G H | 5468 | 9236 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040283 - Occasional | | | 42 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | PQBP1 CL E G H | 10084 | 9330 | ORPHA:93947 | X-linked intellectual disability, Golabi-Ito-Hall type | HP:0040281 - Very frequent | | | 28 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | PRKAG2 CL E G H | 51422 | 9386 | OMIM:261740 | Glycogen storage disease of heart, lethal congenital | HP:0040283 - Occasional | | | 235 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | PROP1 CL E G H | 5626 | 9455 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040282 - Frequent | | | 54 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | PSMB8 CL E G H | 5696 | 9545 | OMIM:256040 | Proteasome-associated autoinflammatory syndrome 1 and digenic forms | | | | 20 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | PTEN CL E G H | 5728 | 9588 | ORPHA:201 | Cowden syndrome | HP:0040282 - Frequent | | | 948 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | PTEN CL E G H | 5728 | 9588 | ORPHA:65285 | Lhermitte-Duclos disease | HP:0040281 - Very frequent | | | 948 | | |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | RASA1 CL E G H | 5921 | 9871 | ORPHA:90307 | Parkes Weber syndrome | HP:0040282 - Frequent | | | 88 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | RMRP CL E G H | 6023 | 10031 | OMIM:607095 | Anauxetic dysplasia | | | | 37 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | RNF125 CL E G H | 54941 | 21150 | OMIM:616260 | Tenorio syndrome | . | | | 5 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | ROR2 CL E G H | 4920 | 10257 | OMIM:268310 | Robinow syndrome, autosomal recessive | . | | | 120 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | RTL1 CL E G H | 388015 | 14665 | ORPHA:254528 | Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion | HP:0040283 - Occasional | | | | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040282 - Frequent | | | | | |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | RYR1 CL E G H | 6261 | 10483 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 1200 | | |
HP:0003712 | HP:0003720 | Generalized muscle hypertrophy | 1 | SCN4A CL E G H | 6329 | 10591 | ORPHA:99735 | Myotonia permanens | HP:0040283 - Occasional | | | 263 | | |
HP:0003712 | HP:0012892 | Facial muscle hypertrophy | 1 | SCN4A CL E G H | 6329 | 10591 | ORPHA:684 | Paramyotonia congenita of Von Eulenburg | HP:0040282 - Frequent | | | 263 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | SDHB CL E G H | 6390 | 10681 | ORPHA:201 | Cowden syndrome | HP:0040282 - Frequent | | | 237 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | SDHC CL E G H | 6391 | 10682 | ORPHA:201 | Cowden syndrome | HP:0040282 - Frequent | | | 147 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | SDHD CL E G H | 6392 | 10683 | ORPHA:201 | Cowden syndrome | HP:0040282 - Frequent | | | 129 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | SEC23B CL E G H | 10483 | 10702 | ORPHA:201 | Cowden syndrome | HP:0040282 - Frequent | | | 60 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | SETBP1 CL E G H | 26040 | 15573 | OMIM:269150 | Schinzel-Giedion midface-retraction syndrome | . | | | 143 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | SETBP1 CL E G H | 26040 | 15573 | ORPHA:798 | Schinzel-Giedion syndrome | HP:0040282 - Frequent | | | 143 | | |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | SGCA CL E G H | 6442 | 10805 | OMIM:608099 | Muscular dystrophy, limb-girdle, type 2D | | | | 132 | | |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | SGCB CL E G H | 6443 | 10806 | ORPHA:119 | Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 | | | | 113 | | |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | SGCD CL E G H | 6444 | 10807 | OMIM:601287 | Muscular dystrophy, limb-girdle, type 2F | | | | 223 | | |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | SGCG CL E G H | 6445 | 10809 | ORPHA:353 | Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 | | | | 83 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | SGCG CL E G H | 6445 | 10809 | ORPHA:353 | Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 | HP:0040282 - Frequent | | | 83 | | |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | SLC25A1 CL E G H | 6576 | 10979 | OMIM:618197 | Myasthenic syndrome, congenital, 23, presynaptic | | | | 28 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | SLC26A4 CL E G H | 5172 | 8818 | ORPHA:95713 | Athyreosis | HP:0040281 - Very frequent | | | 274 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | SLC26A4 CL E G H | 5172 | 8818 | ORPHA:95720 | Thyroid hypoplasia | HP:0040281 - Very frequent | | | 274 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | SLC5A5 CL E G H | 6528 | 11040 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040283 - Occasional | | | 59 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | SLC5A5 CL E G H | 6528 | 11040 | OMIM:274400 | Thyroid hormonogenesis, genetic defect in, 1 | . | | | 59 | | |
HP:0003712 | HP:0003720 | Generalized muscle hypertrophy | 1 | SMAD4 CL E G H | 4089 | 6770 | OMIM:139210 | Myhre syndrome | . | | | 504 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | SMARCA4 CL E G H | 6597 | 11100 | OMIM:614609 | Coffin-Siris syndrome 4 | . | | | 617 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | SMARCB1 CL E G H | 6598 | 11103 | OMIM:614608 | Coffin-Siris syndrome 3 | . | | | 87 | | |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | SMN1 CL E G H | 6606 | 11117 | OMIM:271150 | Spinal muscular atrophy, type IV | | | | 22 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | SNIP1 CL E G H | 79753 | 30587 | OMIM:614501 | Psychomotor retardation, epilepsy, and craniofacial dysmorphism | . | | | 3 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | SNRPN CL E G H | 6638 | 11164 | OMIM:105830 | Angelman syndrome | | | | 37 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | SNX14 CL E G H | 57231 | 14977 | ORPHA:397709 | Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome | HP:0040282 - Frequent | | | 14 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | SNX14 CL E G H | 57231 | 14977 | OMIM:616354 | Spinocerebellar ataxia, autosomal recessive 20 | HP:0040283 - Occasional | | | 14 | | |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | SRY CL E G H | 6736 | 11311 | ORPHA:1772 | 45,X/46,XY mixed gonadal dysgenesis | HP:0040281 - Very frequent | | | 23 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | TBCK CL E G H | 93627 | 28261 | OMIM:616900 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | | | | 13 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | TBCK CL E G H | 93627 | 28261 | ORPHA:488632 | TBCK-related intellectual disability syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | TCAP CL E G H | 8557 | 11610 | OMIM:601954 | Muscular dystrophy, limb-girdle, type 2G | | | | 78 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | TG CL E G H | 7038 | 11764 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040283 - Occasional | | | 155 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | THRA CL E G H | 7067 | 11796 | OMIM:614450 | Hypothyroidism, congenital, nongoitrous, 6 | . | | | 9 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | TPO CL E G H | 7173 | 12015 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040283 - Occasional | | | 92 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | TRAF3IP2 CL E G H | 10758 | 1343 | OMIM:615527 | Candidiasis, familial, 8 | . | | | 4 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | TRMU CL E G H | 55687 | 25481 | ORPHA:254864 | Mitochondrial myopathy with reversible cytochrome C oxidase deficiency | HP:0040283 - Occasional | | | 101 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | TRNE CL E G H | 4556 | 7479 | ORPHA:254864 | Mitochondrial myopathy with reversible cytochrome C oxidase deficiency | HP:0040283 - Occasional | | | | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | TSHB CL E G H | 7252 | 12372 | OMIM:275100 | Hypothyroidism, congenital, nongoitrous, 4 | . | | | 9 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | TSHB CL E G H | 7252 | 12372 | ORPHA:90674 | Isolated thyroid-stimulating hormone deficiency | HP:0040282 - Frequent | | | 9 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | TSHR CL E G H | 7253 | 12373 | ORPHA:95713 | Athyreosis | HP:0040281 - Very frequent | | | 97 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | TSHR CL E G H | 7253 | 12373 | ORPHA:90673 | Hypothyroidism due to TSH receptor mutations | HP:0040283 - Occasional | | | 97 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | TSHR CL E G H | 7253 | 12373 | ORPHA:95720 | Thyroid hypoplasia | HP:0040281 - Very frequent | | | 97 | | |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | TTN CL E G H | 7273 | 12403 | ORPHA:178464 | Hereditary myopathy with early respiratory failure | | | | 7128 | | |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | TTN CL E G H | 7273 | 12403 | OMIM:603689 | Myopathy, myofibrillar, 9, with early respiratory failure | | | | 7128 | | |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | TTN CL E G H | 7273 | 12403 | OMIM:611705 | Salih myopathy | | | | 7128 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | UBE3A CL E G H | 7337 | 12496 | OMIM:105830 | Angelman syndrome | | | | 278 | | |
HP:0003712 | HP:0008968 | Muscle hypertrophy of the lower extremities | 1 | UNC45B CL E G H | 146862 | 14304 | OMIM:619178 | MYOFIBRILLAR MYOPATHY 11; MFM11 | | | | 1 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | USF3 CL E G H | 205717 | 30494 | ORPHA:201 | Cowden syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | VPS33A CL E G H | 65082 | 18179 | ORPHA:505248 | Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders | HP:0040282 - Frequent | | | 1 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | VPS33A CL E G H | 65082 | 18179 | OMIM:617303 | Mucopolysaccharidosis-Plus syndrome | | | | 1 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | WNT5A CL E G H | 7474 | 12784 | OMIM:180700 | Robinow syndrome, autosomal dominant 1 | . | | | 98 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | ZBTB24 CL E G H | 9841 | 21143 | ORPHA:2268 | ICF syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0003712 | HP:0003720 | Generalized muscle hypertrophy | 1 | ZEB2 CL E G H | 9839 | 14881 | OMIM:235730 | Mowat-Wilson syndrome | . | | | 362 | | |
HP:0003712 | HP:0000158 | Macroglossia | 1 | ZFP57 CL E G H | 346171 | 18791 | ORPHA:99886 | Transient neonatal diabetes mellitus | HP:0040282 - Frequent | | | 30 | | |
HP:0003712 | HP:0040267 | Distal upper limb muscle hypertrophy | 2 | CL E G H | | | | | | | | | | |
HP:0003712 | HP:0100875 | Hemimacroglossia | 2 | CL E G H | | | | | | | | | | |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | ANO5 CL E G H | 203859 | 27337 | ORPHA:206549 | Anoctamin-5-related limb-girdle muscular dystrophy R12 | HP:0040283 - Occasional | | | 304 | | |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | ANO5 CL E G H | 203859 | 27337 | OMIM:613319 | Miyoshi muscular dystrophy 3 | . | | | 304 | | |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | ANO5 CL E G H | 203859 | 27337 | OMIM:611307 | Muscular dystrophy, limb-girdle, type 2L | . | | | 304 | | |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | AR CL E G H | 367 | 644 | OMIM:313200 | Spinal and bulbar muscular atrophy, X-linked 1 | . | | | 125 | | |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | BIN1 CL E G H | 274 | 1052 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040283 - Occasional | | | 99 | | |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | CAPN3 CL E G H | 825 | 1480 | ORPHA:267 | Calpain-3-related limb-girdle muscular dystrophy R1 | HP:0040282 - Frequent | | | 323 | | |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | CAV3 CL E G H | 859 | 1529 | OMIM:614321 | Myopathy, distal, Tateyama type | . | | | 148 | | |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | CHCHD10 CL E G H | 400916 | 15559 | OMIM:615048 | Spinal muscular atrophy, Jokela type | HP:0040283 - Occasional | | | 11 | | |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | CIDEC CL E G H | 63924 | 24229 | ORPHA:435651 | CIDEC-related familial partial lipodystrophy | HP:0040281 - Very frequent | | | 8 | | |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | CRPPA CL E G H | 729920 | 37276 | OMIM:616052 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 | . | | | | | |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | DAG1 CL E G H | 1605 | 2666 | ORPHA:280333 | Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 | HP:0040282 - Frequent | | | 108 | | |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | DHX16 CL E G H | 8449 | 2739 | OMIM:618733 | NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS | | | | | | |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | DMD CL E G H | 1756 | 2928 | OMIM:310200 | Duchenne muscular dystrophy | | | | 1496 | | |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | DMD CL E G H | 1756 | 2928 | ORPHA:98896 | Duchenne muscular dystrophy | HP:0040281 - Very frequent | | | 1496 | | |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | DMD CL E G H | 1756 | 2928 | ORPHA:206546 | Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers | | | | 1496 | | |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | DNM2 CL E G H | 1785 | 2974 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040283 - Occasional | | | 167 | | |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | DPM3 CL E G H | 54344 | 3007 | ORPHA:263494 | DPM3-CDG | HP:0040282 - Frequent | | | 9 | | |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | DYSF CL E G H | 8291 | 3097 | ORPHA:268 | Dysferlin-related limb-girdle muscular dystrophy R2 | HP:0040283 - Occasional | | | 600 | | |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | DYSF CL E G H | 8291 | 3097 | ORPHA:45448 | Miyoshi myopathy | HP:0040283 - Occasional | | | 600 | | |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | FKRP CL E G H | 79147 | 17997 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040282 - Frequent | | | 157 | | |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | FKRP CL E G H | 79147 | 17997 | ORPHA:34515 | FKRP-related limb-girdle muscular dystrophy R9 | HP:0040282 - Frequent | | | 157 | | |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | FKRP CL E G H | 79147 | 17997 | OMIM:606612 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5 | . | | | 157 | | |
HP:0003712 | HP:0003733 | Thigh hypertrophy | 2 | FKRP CL E G H | 79147 | 17997 | OMIM:606612 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5 | . | | | 157 | | |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | FKRP CL E G H | 79147 | 17997 | OMIM:607155 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 | . | | | 157 | | |
HP:0003712 | HP:0003733 | Thigh hypertrophy | 2 | FKRP CL E G H | 79147 | 17997 | OMIM:607155 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 | . | | | 157 | | |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | FKTN CL E G H | 2218 | 3622 | OMIM:611615 | Cardiomyopathy, dilated, 1X | | | | 184 | | |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | FKTN CL E G H | 2218 | 3622 | OMIM:253800 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 | . | | | 184 | | |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | FRG1 CL E G H | 2483 | 3954 | OMIM:158900 | Facioscapulohumeral muscular dystrophy 1 | . | | | 1 | | |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | GMPPB CL E G H | 29925 | 22932 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040282 - Frequent | | | 34 | | |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | KCNA1 CL E G H | 3736 | 6218 | ORPHA:37612 | Episodic ataxia type 1 | HP:0040283 - Occasional | | | 145 | | |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | LAMA2 CL E G H | 3908 | 6482 | OMIM:618138 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23 | | | | 411 | | |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | LARGE1 CL E G H | 9215 | 6511 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040282 - Frequent | | | 136 | | |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | LARGE1 CL E G H | 9215 | 6511 | OMIM:608840 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6 | | | | 136 | | |
HP:0003712 | HP:0030284 | Triangular tongue | 2 | LIMS2 CL E G H | 55679 | 16084 | OMIM:616827 | Muscular dystrophy, limb-girdle, type 2W | | | | 10 | | |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | LIMS2 CL E G H | 55679 | 16084 | OMIM:616827 | Muscular dystrophy, limb-girdle, type 2W | | | | 10 | | |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | LMNA CL E G H | 4000 | 6636 | ORPHA:79474 | Atypical Werner syndrome | HP:0040281 - Very frequent | | | 645 | | |
HP:0003712 | HP:0040266 | Proximal upper limb muscle hypertrophy | 2 | LMNA CL E G H | 4000 | 6636 | ORPHA:280365 | Autosomal semi-dominant severe lipodystrophic laminopathy | HP:0040282 - Frequent | | | 645 | | |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | LTBP4 CL E G H | 8425 | 6717 | ORPHA:98896 | Duchenne muscular dystrophy | HP:0040281 - Very frequent | | | 92 | | |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | MAP3K20 CL E G H | 51776 | 17797 | OMIM:617760 | Myopathy, centronuclear, 6, with fiber-type disproportion | . | | | 2 | | |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | MICU1 CL E G H | 10367 | 1530 | OMIM:615673 | Myopathy with extrapyramidal signs | | | | 14 | | |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | MTMR14 CL E G H | 64419 | 26190 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040283 - Occasional | | | 7 | | |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | MYF6 CL E G H | 4618 | 7566 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040283 - Occasional | | | 19 | | |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | MYH7 CL E G H | 4625 | 7577 | OMIM:255160 | Myopathy, myosin storage, autosomal recessive | | | | 1269 | | |
HP:0003712 | HP:0040266 | Proximal upper limb muscle hypertrophy | 2 | PLEC CL E G H | 5339 | 9069 | ORPHA:254361 | Plectin-related limb-girdle muscular dystrophy R17 | HP:0040283 - Occasional | | | 759 | | |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | PLEC CL E G H | 5339 | 9069 | ORPHA:254361 | Plectin-related limb-girdle muscular dystrophy R17 | HP:0040283 - Occasional | | | 759 | | |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | PLIN1 CL E G H | 5346 | 9076 | ORPHA:280356 | PLIN1-related familial partial lipodystrophy | HP:0040281 - Very frequent | | | 19 | | |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | PMP22 CL E G H | 5376 | 9118 | ORPHA:101081 | Charcot-Marie-Tooth disease type 1A | HP:0040283 - Occasional | | | 79 | | |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | POMGNT1 CL E G H | 55624 | 19139 | OMIM:613157 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 | | | | 180 | | |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | POMGNT2 CL E G H | 84892 | 25902 | OMIM:618135 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 | . | | | 33 | | |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040282 - Frequent | | | 213 | | |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | POMT1 CL E G H | 10585 | 9202 | OMIM:613155 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 | | | | 213 | | |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | POMT1 CL E G H | 10585 | 9202 | ORPHA:86812 | POMT1-related limb-girdle muscular dystrophy R11 | HP:0040282 - Frequent | | | 213 | | |
HP:0003712 | HP:0003733 | Thigh hypertrophy | 2 | POMT1 CL E G H | 10585 | 9202 | ORPHA:86812 | POMT1-related limb-girdle muscular dystrophy R11 | HP:0040282 - Frequent | | | 213 | | |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | POMT2 CL E G H | 29954 | 19743 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040282 - Frequent | | | 221 | | |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | POMT2 CL E G H | 29954 | 19743 | ORPHA:206559 | POMT2-related limb-girdle muscular dystrophy R14 | HP:0040283 - Occasional | | | 221 | | |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | POPDC3 CL E G H | 64208 | 17649 | OMIM:618848 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26; LGMDR26 | | | | | | |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | RYR1 CL E G H | 6261 | 10483 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040283 - Occasional | | | 1200 | | |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | SGCA CL E G H | 6442 | 10805 | OMIM:608099 | Muscular dystrophy, limb-girdle, type 2D | . | | | 132 | | |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | SGCB CL E G H | 6443 | 10806 | ORPHA:119 | Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 | HP:0040282 - Frequent | | | 113 | | |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | SGCD CL E G H | 6444 | 10807 | OMIM:601287 | Muscular dystrophy, limb-girdle, type 2F | . | | | 223 | | |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | SGCG CL E G H | 6445 | 10809 | ORPHA:353 | Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 | HP:0040282 - Frequent | | | 83 | | |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | SLC25A1 CL E G H | 6576 | 10979 | OMIM:618197 | Myasthenic syndrome, congenital, 23, presynaptic | . | | | 28 | | |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | SMN1 CL E G H | 6606 | 11117 | OMIM:271150 | Spinal muscular atrophy, type IV | | | | 22 | | |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | TCAP CL E G H | 8557 | 11610 | OMIM:601954 | Muscular dystrophy, limb-girdle, type 2G | . | | | 78 | | |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | TTN CL E G H | 7273 | 12403 | ORPHA:178464 | Hereditary myopathy with early respiratory failure | HP:0040283 - Occasional | | | 7128 | | |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | TTN CL E G H | 7273 | 12403 | OMIM:603689 | Myopathy, myofibrillar, 9, with early respiratory failure | | | | 7128 | | |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | TTN CL E G H | 7273 | 12403 | OMIM:611705 | Salih myopathy | . | | | 7128 | | |
HP:0003712 | HP:0008981 | Calf muscle hypertrophy | 2 | UNC45B CL E G H | 146862 | 14304 | OMIM:619178 | MYOFIBRILLAR MYOPATHY 11; MFM11 | | | | 1 | | |