Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:97240 | Zebra body myopathy | | | | 96 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | AHCY CL E G H | 191 | 343 | ORPHA:88618 | S-adenosylhomocysteine hydrolase deficiency | HP:0040282 - Frequent | | | 31 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | ANO5 CL E G H | 203859 | 27337 | ORPHA:206549 | Anoctamin-5-related limb-girdle muscular dystrophy R12 | | | | 304 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | ANO5 CL E G H | 203859 | 27337 | OMIM:613319 | Miyoshi muscular dystrophy 3 | . | | | 304 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | ANO5 CL E G H | 203859 | 27337 | OMIM:611307 | Muscular dystrophy, limb-girdle, type 2L | | | | 304 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | B3GALNT2 CL E G H | 148789 | 28596 | OMIM:615181 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11 | . | | | 43 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | B3GALNT2 CL E G H | 148789 | 28596 | ORPHA:899 | Walker-Warburg syndrome | HP:0040281 - Very frequent | | | 43 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | B4GAT1 CL E G H | 11041 | 15685 | OMIM:615287 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13 | . | | | 17 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | B4GAT1 CL E G H | 11041 | 15685 | ORPHA:899 | Walker-Warburg syndrome | HP:0040281 - Very frequent | | | 17 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | BAG3 CL E G H | 9531 | 939 | OMIM:612954 | Myopathy, myofibrillar, 6 | . | | | 204 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | BUB1 CL E G H | 699 | 1148 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | BUB1B CL E G H | 701 | 1149 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040281 - Very frequent | | | 76 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | BUB3 CL E G H | 9184 | 1151 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040281 - Very frequent | | | | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | BVES CL E G H | 11149 | 1152 | OMIM:616812 | Muscular dystrophy, limb-girdle, autosomal recessive 25 | | | | 2 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | CAPN3 CL E G H | 825 | 1480 | ORPHA:267 | Calpain-3-related limb-girdle muscular dystrophy R1 | HP:0040282 - Frequent | | | 323 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | CAPN3 CL E G H | 825 | 1480 | OMIM:253600 | Muscular dystrophy, limb-girdle, type 2A | . | | | 323 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | CAV3 CL E G H | 859 | 1529 | OMIM:123320 | Creatine phosphokinase, elevated serum | | | | 148 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | CAVIN1 CL E G H | 284119 | 9688 | OMIM:613327 | Lipodystrophy, congenital generalized, type 4 | . | | | 48 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | CEP57 CL E G H | 9702 | 30794 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040281 - Very frequent | | | 17 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | CHKB CL E G H | 1120 | 1938 | OMIM:602541 | Muscular dystrophy, congenital, Megaconial type | . | | | 53 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | COL12A1 CL E G H | 1303 | 2188 | ORPHA:610 | Bethlem myopathy | HP:0040281 - Very frequent | | | 65 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | COL12A1 CL E G H | 1303 | 2188 | OMIM:616470 | ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD2 | | | | 65 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | COL4A1 CL E G H | 1282 | 2202 | ORPHA:899 | Walker-Warburg syndrome | HP:0040281 - Very frequent | | | 193 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | COL6A1 CL E G H | 1291 | 2211 | ORPHA:610 | Bethlem myopathy | HP:0040281 - Very frequent | | | 442 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | COL6A1 CL E G H | 1291 | 2211 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | | | | 442 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | COL6A2 CL E G H | 1292 | 2212 | ORPHA:610 | Bethlem myopathy | HP:0040281 - Very frequent | | | 478 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | COL6A2 CL E G H | 1292 | 2212 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | | | | 478 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | COL6A3 CL E G H | 1293 | 2213 | ORPHA:610 | Bethlem myopathy | HP:0040281 - Very frequent | | | 702 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | COL6A3 CL E G H | 1293 | 2213 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | | | | 702 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | CRPPA CL E G H | 729920 | 37276 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | | | | | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | CRPPA CL E G H | 729920 | 37276 | OMIM:614643 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 | . | | | | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | CRPPA CL E G H | 729920 | 37276 | OMIM:616052 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 | | | | | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | CRPPA CL E G H | 729920 | 37276 | ORPHA:899 | Walker-Warburg syndrome | HP:0040281 - Very frequent | | | | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | CRYAB CL E G H | 1410 | 2389 | OMIM:608810 | Myopathy, myofibrillar, 2, mfm2 | . | | | 46 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | CRYAB CL E G H | 1410 | 2389 | OMIM:613869 | Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related | . | | | 46 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | DAG1 CL E G H | 1605 | 2666 | ORPHA:280333 | Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 | | | | 108 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | DAG1 CL E G H | 1605 | 2666 | OMIM:616538 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9 | . | | | 108 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | DAG1 CL E G H | 1605 | 2666 | OMIM:613818 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9 | . | | | 108 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | DAG1 CL E G H | 1605 | 2666 | ORPHA:899 | Walker-Warburg syndrome | HP:0040281 - Very frequent | | | 108 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | DMD CL E G H | 1756 | 2928 | OMIM:310200 | Duchenne muscular dystrophy | . | | | 1496 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | DMD CL E G H | 1756 | 2928 | OMIM:300376 | Muscular dystrophy, Becker type | . | | | 1496 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | DNAJB6 CL E G H | 10049 | 14888 | OMIM:603511 | Muscular dystrophy, limb-girdle, type 1E | . | | | 103 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | DPM1 CL E G H | 8813 | 3005 | OMIM:608799 | Congenital disorder of glycosylation, type IE | . | | | 27 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | DPM1 CL E G H | 8813 | 3005 | ORPHA:79322 | DPM1-CDG | HP:0040283 - Occasional | | | 27 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | DPM3 CL E G H | 54344 | 3007 | ORPHA:263494 | DPM3-CDG | HP:0040282 - Frequent | | | 9 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | DPM3 CL E G H | 54344 | 3007 | OMIM:612937 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15; MDDGC15 | | | | 9 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | DYSF CL E G H | 8291 | 3097 | OMIM:254130 | Miyoshi muscular dystrophy 1 | . | | | 600 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | DYSF CL E G H | 8291 | 3097 | OMIM:253601 | Muscular dystrophy, limb-girdle, type 2B | . | | | 600 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | EMD CL E G H | 2010 | 3331 | ORPHA:98863 | X-linked Emery-Dreifuss muscular dystrophy | | | | 107 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | FHL1 CL E G H | 2273 | 3702 | ORPHA:98863 | X-linked Emery-Dreifuss muscular dystrophy | | | | 68 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | | | | 157 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | | | | 157 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:34515 | FKRP-related limb-girdle muscular dystrophy R9 | HP:0040281 - Very frequent | | | 157 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | FKRP CL E G H | 79147 | 17997 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 157 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | FKRP CL E G H | 79147 | 17997 | OMIM:613153 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 | . | | | 157 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | FKRP CL E G H | 79147 | 17997 | OMIM:606612 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5 | | | | 157 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | FKRP CL E G H | 79147 | 17997 | OMIM:607155 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 | | | | 157 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:899 | Walker-Warburg syndrome | HP:0040281 - Very frequent | | | 157 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | FKTN CL E G H | 2218 | 3622 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | | | | 184 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | FKTN CL E G H | 2218 | 3622 | ORPHA:272 | Congenital muscular dystrophy, Fukuyama type | HP:0040281 - Very frequent | | | 184 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | FKTN CL E G H | 2218 | 3622 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 184 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | FKTN CL E G H | 2218 | 3622 | OMIM:253800 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 | | | | 184 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | FKTN CL E G H | 2218 | 3622 | OMIM:613152 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 | . | | | 184 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | FKTN CL E G H | 2218 | 3622 | OMIM:611588 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 | . | | | 184 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | FKTN CL E G H | 2218 | 3622 | ORPHA:899 | Walker-Warburg syndrome | HP:0040281 - Very frequent | | | 184 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | FRG1 CL E G H | 2483 | 3954 | OMIM:158900 | Facioscapulohumeral muscular dystrophy 1 | | | | 1 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | GK CL E G H | 2710 | 4289 | OMIM:307030 | Glycerol kinase deficiency | . | | | 13 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | GMPPB CL E G H | 29925 | 22932 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | | | | 34 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | GMPPB CL E G H | 29925 | 22932 | OMIM:615350 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 | . | | | 34 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | GMPPB CL E G H | 29925 | 22932 | OMIM:615351 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 | . | | | 34 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | GMPPB CL E G H | 29925 | 22932 | OMIM:615352 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 | . | | | 34 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | HNRNPA1 CL E G H | 3178 | 5031 | OMIM:615426 | Amyotrophic lateral sclerosis 20 | | | | 31 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | HNRNPA1 CL E G H | 3178 | 5031 | OMIM:615424 | Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 | | | | 31 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | HNRNPDL CL E G H | 9987 | 5037 | OMIM:609115 | Limb-girdle muscular dystrophy, type 1G | | | | 5 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | INPP5K CL E G H | 51763 | 33882 | ORPHA:559 | Marinesco-Sjögren syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | ITGA7 CL E G H | 3679 | 6143 | OMIM:613204 | Muscular dystrophy, congenital, due to integrin alpha-7 deficiency | | | | 127 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | ITGB4 CL E G H | 3691 | 6158 | ORPHA:158684 | Epidermolysis bullosa simplex with pyloric atresia | HP:0040283 - Occasional | | | 124 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | JAG2 CL E G H | 3714 | 6189 | OMIM:619566 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27 | | | | 1 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | LAMA2 CL E G H | 3908 | 6482 | ORPHA:258 | Laminin subunit alpha 2-related congenital muscular dystrophy | HP:0040281 - Very frequent | | | 411 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | LAMA2 CL E G H | 3908 | 6482 | OMIM:607855 | Muscular dystrophy, congenital, merosin deficient or partially deficient | | | | 411 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | LARGE1 CL E G H | 9215 | 6511 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 136 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | LARGE1 CL E G H | 9215 | 6511 | OMIM:613154 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 6 | . | | | 136 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | LARGE1 CL E G H | 9215 | 6511 | OMIM:608840 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6 | . | | | 136 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | LARGE1 CL E G H | 9215 | 6511 | ORPHA:899 | Walker-Warburg syndrome | HP:0040281 - Very frequent | | | 136 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | LIMS2 CL E G H | 55679 | 16084 | OMIM:616827 | Muscular dystrophy, limb-girdle, type 2W | . | | | 10 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | LIPE CL E G H | 3991 | 6621 | OMIM:615980 | Lipodystrophy, familial partial, type 6 | HP:0040283 - Occasional | | | 7 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | | | | 645 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:98855 | Autosomal recessive Emery-Dreifuss muscular dystrophy | | | | 645 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:181350 | Emery-Dreifuss muscular dystrophy 2, autosomal dominant | . | | | 645 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:616516 | Emery-Dreifuss muscular dystrophy 3, autosomal recessive | . | | | 645 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:300751 | Familial dilated cardiomyopathy with conduction defect due to LMNA mutation | HP:0040283 - Occasional | | | 645 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:613205 | Muscular dystrophy, congenital, lmna-related | | | | 645 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | MYH7 CL E G H | 4625 | 7577 | ORPHA:324604 | Classic multiminicore myopathy | | | | 1269 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | NPPA CL E G H | 4878 | 7939 | ORPHA:1344 | Atrial standstill | HP:0040282 - Frequent | | | 13 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | NR0B1 CL E G H | 190 | 7960 | OMIM:300200 | Adrenal hypoplasia, congenital | . | | | 48 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | PIEZO2 CL E G H | 63895 | 26270 | ORPHA:2461 | Marden-Walker syndrome | HP:0040281 - Very frequent | | | 77 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | PLEC CL E G H | 5339 | 9069 | OMIM:226670 | Epidermolysis bullosa simplex with muscular dystrophy | . | | | 759 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | PLEC CL E G H | 5339 | 9069 | ORPHA:158684 | Epidermolysis bullosa simplex with pyloric atresia | HP:0040283 - Occasional | | | 759 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | PLEC CL E G H | 5339 | 9069 | OMIM:613723 | Muscular dystrophy, limb-girdle, type 2Q | . | | | 759 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | PNKP CL E G H | 11284 | 9154 | ORPHA:459033 | Ataxia-oculomotor apraxia type 4 | HP:0040283 - Occasional | | | 244 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | POMGNT1 CL E G H | 55624 | 19139 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | | | | 180 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | POMGNT1 CL E G H | 55624 | 19139 | OMIM:253280 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | . | | | 180 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | POMGNT1 CL E G H | 55624 | 19139 | OMIM:613151 | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 | . | | | 180 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | POMGNT1 CL E G H | 55624 | 19139 | OMIM:613157 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 | . | | | 180 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | POMGNT1 CL E G H | 55624 | 19139 | ORPHA:899 | Walker-Warburg syndrome | HP:0040281 - Very frequent | | | 180 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | POMGNT2 CL E G H | 84892 | 25902 | OMIM:614830 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8 | . | | | 33 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | POMGNT2 CL E G H | 84892 | 25902 | ORPHA:899 | Walker-Warburg syndrome | HP:0040281 - Very frequent | | | 33 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | POMK CL E G H | 84197 | 26267 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | | | | 18 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | POMK CL E G H | 84197 | 26267 | OMIM:615249 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12 | . | | | 18 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | POMK CL E G H | 84197 | 26267 | OMIM:616094 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12 | . | | | 18 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | POMK CL E G H | 84197 | 26267 | ORPHA:899 | Walker-Warburg syndrome | HP:0040281 - Very frequent | | | 18 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | | | | 213 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | | | | 213 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | POMT1 CL E G H | 10585 | 9202 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 213 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | POMT1 CL E G H | 10585 | 9202 | OMIM:613155 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 | . | | | 213 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | POMT1 CL E G H | 10585 | 9202 | OMIM:609308 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 | . | | | 213 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:86812 | POMT1-related limb-girdle muscular dystrophy R11 | HP:0040282 - Frequent | | | 213 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:899 | Walker-Warburg syndrome | HP:0040281 - Very frequent | | | 213 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | POMT2 CL E G H | 29954 | 19743 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | | | | 221 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | POMT2 CL E G H | 29954 | 19743 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 221 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | POMT2 CL E G H | 29954 | 19743 | OMIM:613150 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 | | | | 221 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | POMT2 CL E G H | 29954 | 19743 | OMIM:613156 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 | . | | | 221 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | POMT2 CL E G H | 29954 | 19743 | OMIM:613158 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 | . | | | 221 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | POMT2 CL E G H | 29954 | 19743 | ORPHA:206559 | POMT2-related limb-girdle muscular dystrophy R14 | | | | 221 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | POMT2 CL E G H | 29954 | 19743 | ORPHA:899 | Walker-Warburg syndrome | HP:0040281 - Very frequent | | | 221 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | RXYLT1 CL E G H | 10329 | 13530 | OMIM:615041 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 10 | . | | | | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | RXYLT1 CL E G H | 10329 | 13530 | ORPHA:899 | Walker-Warburg syndrome | HP:0040281 - Very frequent | | | | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:98905 | Congenital multicore myopathy with external ophthalmoplegia | HP:0040282 - Frequent | | | 1200 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | RYR1 CL E G H | 6261 | 10483 | OMIM:255320 | Minicore myopathy with external ophthalmoplegia | . | | | 1200 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | SCN5A CL E G H | 6331 | 10593 | ORPHA:1344 | Atrial standstill | HP:0040282 - Frequent | | | 1134 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | SELENON CL E G H | 57190 | 15999 | ORPHA:324604 | Classic multiminicore myopathy | | | | 144 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | SELENON CL E G H | 57190 | 15999 | OMIM:602771 | Rigid spine muscular dystrophy 1 | . | | | 144 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | SGCA CL E G H | 6442 | 10805 | ORPHA:62 | Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 | HP:0040282 - Frequent | | | 132 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | SGCA CL E G H | 6442 | 10805 | OMIM:608099 | Muscular dystrophy, limb-girdle, type 2D | | | | 132 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | SGCB CL E G H | 6443 | 10806 | OMIM:604286 | Muscular dystrophy, limb-girdle, type 2E | . | | | 113 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | SGCD CL E G H | 6444 | 10807 | OMIM:601287 | Muscular dystrophy, limb-girdle, type 2F | . | | | 223 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | SGCG CL E G H | 6445 | 10809 | OMIM:253700 | Muscular dystrophy, limb-girdle, type 2C | . | | | 83 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | SIL1 CL E G H | 64374 | 24624 | ORPHA:559 | Marinesco-Sjögren syndrome | HP:0040282 - Frequent | | | 67 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | SMCHD1 CL E G H | 23347 | 29090 | OMIM:158901 | FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2; FSHD2 | | | | 174 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | | | | 1129 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | SYNE1 CL E G H | 23345 | 17089 | OMIM:612998 | Emery-Dreifuss muscular dystrophy 4, autosomal dominant | . | | | 1129 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | SYNE2 CL E G H | 23224 | 17084 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | | | | 508 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | SYNE2 CL E G H | 23224 | 17084 | OMIM:612999 | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | . | | | 508 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | TCAP CL E G H | 8557 | 11610 | OMIM:601954 | Muscular dystrophy, limb-girdle, type 2G | . | | | 78 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | TMEM43 CL E G H | 79188 | 28472 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | | | | 171 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | TMEM43 CL E G H | 79188 | 28472 | OMIM:614302 | Emery-Dreifuss muscular dystrophy 7, autosomal dominant | . | | | 171 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | TNPO3 CL E G H | 23534 | 17103 | OMIM:608423 | Muscular dystrophy, limb-girdle, autosomal dominant 2 | . | | | 71 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | TOR1AIP1 CL E G H | 26092 | 29456 | OMIM:617072 | Muscular dystrophy, limb-girdle, type 2Y | . | | | 10 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | TRAPPC11 CL E G H | 60684 | 25751 | ORPHA:369847 | Intellectual disability-hyperkinetic movement-truncal ataxia syndrome | | | | 27 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | TRAPPC11 CL E G H | 60684 | 25751 | OMIM:615356 | Muscular dystrophy, limb-girdle, autosomal recessive 18 | | | | 27 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | TRAPPC11 CL E G H | 60684 | 25751 | ORPHA:369840 | TRAPPC11-related limb-girdle muscular dystrophy R18 | HP:0040282 - Frequent | | | 27 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | TRIM32 CL E G H | 22954 | 16380 | OMIM:254110 | Muscular dystrophy, limb-girdle, type 2H | . | | | 108 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | TRIP13 CL E G H | 9319 | 12307 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | TRIP4 CL E G H | 9325 | 12310 | OMIM:617066 | Muscular dystrophy, congenital, Davignon-Chauveau type | . | | | 4 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | TTN CL E G H | 7273 | 12403 | ORPHA:324604 | Classic multiminicore myopathy | | | | 7128 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | TTN CL E G H | 7273 | 12403 | OMIM:608807 | Muscular dystrophy, limb-girdle, autosomal recessive 10 | . | | | 7128 | | |
HP:0003560 | HP:0003560 | Muscular dystrophy | 0 | TTN CL E G H | 7273 | 12403 | OMIM:600334 | Tibial muscular dystrophy, tardive | . | | | 7128 | | |
HP:0003560 | HP:0007081 | Late-onset muscular dystrophy | 1 | CL E G H | | | | | | | | | | |
HP:0003560 | HP:0006785 | Limb-girdle muscular dystrophy | 1 | ACTA1 CL E G H | 58 | 129 | ORPHA:97240 | Zebra body myopathy | HP:0040281 - Very frequent | | | 96 | | |
HP:0003560 | HP:0006785 | Limb-girdle muscular dystrophy | 1 | ANO5 CL E G H | 203859 | 27337 | ORPHA:206549 | Anoctamin-5-related limb-girdle muscular dystrophy R12 | HP:0040281 - Very frequent | | | 304 | | |
HP:0003560 | HP:0003741 | Congenital muscular dystrophy | 1 | CHKB CL E G H | 1120 | 1938 | OMIM:602541 | Muscular dystrophy, congenital, Megaconial type | . | | | 53 | | |
HP:0003560 | HP:0003741 | Congenital muscular dystrophy | 1 | COL12A1 CL E G H | 1303 | 2188 | OMIM:616470 | ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD2 | | | | 65 | | |
HP:0003560 | HP:0003741 | Congenital muscular dystrophy | 1 | COL6A1 CL E G H | 1291 | 2211 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | . | | | 442 | | |
HP:0003560 | HP:0003741 | Congenital muscular dystrophy | 1 | COL6A2 CL E G H | 1292 | 2212 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | . | | | 478 | | |
HP:0003560 | HP:0003741 | Congenital muscular dystrophy | 1 | COL6A3 CL E G H | 1293 | 2213 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | . | | | 702 | | |
HP:0003560 | HP:0003741 | Congenital muscular dystrophy | 1 | CRPPA CL E G H | 729920 | 37276 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | HP:0040281 - Very frequent | | | | | |
HP:0003560 | HP:0006785 | Limb-girdle muscular dystrophy | 1 | CRPPA CL E G H | 729920 | 37276 | OMIM:616052 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 | . | | | | | |
HP:0003560 | HP:0006785 | Limb-girdle muscular dystrophy | 1 | DAG1 CL E G H | 1605 | 2666 | ORPHA:280333 | Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 | HP:0040281 - Very frequent | | | 108 | | |
HP:0003560 | HP:0006785 | Limb-girdle muscular dystrophy | 1 | DPM3 CL E G H | 54344 | 3007 | OMIM:612937 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15; MDDGC15 | | | | 9 | | |
HP:0003560 | HP:0006785 | Limb-girdle muscular dystrophy | 1 | EMD CL E G H | 2010 | 3331 | ORPHA:98863 | X-linked Emery-Dreifuss muscular dystrophy | HP:0040281 - Very frequent | | | 107 | | |
HP:0003560 | HP:0006785 | Limb-girdle muscular dystrophy | 1 | FHL1 CL E G H | 2273 | 3702 | ORPHA:98863 | X-linked Emery-Dreifuss muscular dystrophy | HP:0040281 - Very frequent | | | 68 | | |
HP:0003560 | HP:0003741 | Congenital muscular dystrophy | 1 | FKRP CL E G H | 79147 | 17997 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040281 - Very frequent | | | 157 | | |
HP:0003560 | HP:0003741 | Congenital muscular dystrophy | 1 | FKRP CL E G H | 79147 | 17997 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | HP:0040281 - Very frequent | | | 157 | | |
HP:0003560 | HP:0003741 | Congenital muscular dystrophy | 1 | FKRP CL E G H | 79147 | 17997 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 157 | | |
HP:0003560 | HP:0003741 | Congenital muscular dystrophy | 1 | FKRP CL E G H | 79147 | 17997 | OMIM:606612 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5 | . | | | 157 | | |
HP:0003560 | HP:0003741 | Congenital muscular dystrophy | 1 | FKRP CL E G H | 79147 | 17997 | OMIM:607155 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 | . | | | 157 | | |
HP:0003560 | HP:0003741 | Congenital muscular dystrophy | 1 | FKTN CL E G H | 2218 | 3622 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | HP:0040281 - Very frequent | | | 184 | | |
HP:0003560 | HP:0003741 | Congenital muscular dystrophy | 1 | FKTN CL E G H | 2218 | 3622 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 184 | | |
HP:0003560 | HP:0003741 | Congenital muscular dystrophy | 1 | FKTN CL E G H | 2218 | 3622 | OMIM:253800 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 | . | | | 184 | | |
HP:0003560 | HP:0008970 | Scapulohumeral muscular dystrophy | 1 | FRG1 CL E G H | 2483 | 3954 | OMIM:158900 | Facioscapulohumeral muscular dystrophy 1 | . | | | 1 | | |
HP:0003560 | HP:0003741 | Congenital muscular dystrophy | 1 | GMPPB CL E G H | 29925 | 22932 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040281 - Very frequent | | | 34 | | |
HP:0003560 | HP:0006785 | Limb-girdle muscular dystrophy | 1 | HNRNPA1 CL E G H | 3178 | 5031 | OMIM:615424 | Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 | . | | | 31 | | |
HP:0003560 | HP:0006785 | Limb-girdle muscular dystrophy | 1 | HNRNPDL CL E G H | 9987 | 5037 | OMIM:609115 | Limb-girdle muscular dystrophy, type 1G | . | | | 5 | | |
HP:0003560 | HP:0003741 | Congenital muscular dystrophy | 1 | ITGA7 CL E G H | 3679 | 6143 | OMIM:613204 | Muscular dystrophy, congenital, due to integrin alpha-7 deficiency | . | | | 127 | | |
HP:0003560 | HP:0003741 | Congenital muscular dystrophy | 1 | LAMA2 CL E G H | 3908 | 6482 | ORPHA:258 | Laminin subunit alpha 2-related congenital muscular dystrophy | HP:0040281 - Very frequent | | | 411 | | |
HP:0003560 | HP:0003741 | Congenital muscular dystrophy | 1 | LAMA2 CL E G H | 3908 | 6482 | OMIM:607855 | Muscular dystrophy, congenital, merosin deficient or partially deficient | | | | 411 | | |
HP:0003560 | HP:0003741 | Congenital muscular dystrophy | 1 | LARGE1 CL E G H | 9215 | 6511 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 136 | | |
HP:0003560 | HP:0006785 | Limb-girdle muscular dystrophy | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | HP:0040281 - Very frequent | | | 645 | | |
HP:0003560 | HP:0006785 | Limb-girdle muscular dystrophy | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:98855 | Autosomal recessive Emery-Dreifuss muscular dystrophy | HP:0040281 - Very frequent | | | 645 | | |
HP:0003560 | HP:0006785 | Limb-girdle muscular dystrophy | 1 | LMNA CL E G H | 4000 | 6636 | OMIM:181350 | Emery-Dreifuss muscular dystrophy 2, autosomal dominant | . | | | 645 | | |
HP:0003560 | HP:0003741 | Congenital muscular dystrophy | 1 | LMNA CL E G H | 4000 | 6636 | OMIM:613205 | Muscular dystrophy, congenital, lmna-related | . | | | 645 | | |
HP:0003560 | HP:0003741 | Congenital muscular dystrophy | 1 | MYH7 CL E G H | 4625 | 7577 | ORPHA:324604 | Classic multiminicore myopathy | HP:0040281 - Very frequent | | | 1269 | | |
HP:0003560 | HP:0003741 | Congenital muscular dystrophy | 1 | POMGNT1 CL E G H | 55624 | 19139 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040281 - Very frequent | | | 180 | | |
HP:0003560 | HP:0003741 | Congenital muscular dystrophy | 1 | POMGNT1 CL E G H | 55624 | 19139 | OMIM:613151 | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 | . | | | 180 | | |
HP:0003560 | HP:0003741 | Congenital muscular dystrophy | 1 | POMK CL E G H | 84197 | 26267 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040281 - Very frequent | | | 18 | | |
HP:0003560 | HP:0003741 | Congenital muscular dystrophy | 1 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040281 - Very frequent | | | 213 | | |
HP:0003560 | HP:0003741 | Congenital muscular dystrophy | 1 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | HP:0040281 - Very frequent | | | 213 | | |
HP:0003560 | HP:0003741 | Congenital muscular dystrophy | 1 | POMT1 CL E G H | 10585 | 9202 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 213 | | |
HP:0003560 | HP:0003741 | Congenital muscular dystrophy | 1 | POMT1 CL E G H | 10585 | 9202 | OMIM:613155 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 | . | | | 213 | | |
HP:0003560 | HP:0003741 | Congenital muscular dystrophy | 1 | POMT2 CL E G H | 29954 | 19743 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040281 - Very frequent | | | 221 | | |
HP:0003560 | HP:0003741 | Congenital muscular dystrophy | 1 | POMT2 CL E G H | 29954 | 19743 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 221 | | |
HP:0003560 | HP:0003741 | Congenital muscular dystrophy | 1 | POMT2 CL E G H | 29954 | 19743 | OMIM:613156 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 | . | | | 221 | | |
HP:0003560 | HP:0006785 | Limb-girdle muscular dystrophy | 1 | POMT2 CL E G H | 29954 | 19743 | ORPHA:206559 | POMT2-related limb-girdle muscular dystrophy R14 | HP:0040281 - Very frequent | | | 221 | | |
HP:0003560 | HP:0003741 | Congenital muscular dystrophy | 1 | SELENON CL E G H | 57190 | 15999 | ORPHA:324604 | Classic multiminicore myopathy | HP:0040281 - Very frequent | | | 144 | | |
HP:0003560 | HP:0006785 | Limb-girdle muscular dystrophy | 1 | SGCA CL E G H | 6442 | 10805 | OMIM:608099 | Muscular dystrophy, limb-girdle, type 2D | . | | | 132 | | |
HP:0003560 | HP:0008970 | Scapulohumeral muscular dystrophy | 1 | SMCHD1 CL E G H | 23347 | 29090 | OMIM:158901 | FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2; FSHD2 | | | | 174 | | |
HP:0003560 | HP:0006785 | Limb-girdle muscular dystrophy | 1 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | HP:0040281 - Very frequent | | | 1129 | | |
HP:0003560 | HP:0006785 | Limb-girdle muscular dystrophy | 1 | SYNE2 CL E G H | 23224 | 17084 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | HP:0040281 - Very frequent | | | 508 | | |
HP:0003560 | HP:0006785 | Limb-girdle muscular dystrophy | 1 | TMEM43 CL E G H | 79188 | 28472 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | HP:0040281 - Very frequent | | | 171 | | |
HP:0003560 | HP:0006785 | Limb-girdle muscular dystrophy | 1 | TRAPPC11 CL E G H | 60684 | 25751 | ORPHA:369847 | Intellectual disability-hyperkinetic movement-truncal ataxia syndrome | HP:0040282 - Frequent | | | 27 | | |
HP:0003560 | HP:0006785 | Limb-girdle muscular dystrophy | 1 | TRAPPC11 CL E G H | 60684 | 25751 | OMIM:615356 | Muscular dystrophy, limb-girdle, autosomal recessive 18 | . | | | 27 | | |
HP:0003560 | HP:0006785 | Limb-girdle muscular dystrophy | 1 | TRAPPC11 CL E G H | 60684 | 25751 | ORPHA:369840 | TRAPPC11-related limb-girdle muscular dystrophy R18 | HP:0040282 - Frequent | | | 27 | | |
HP:0003560 | HP:0003741 | Congenital muscular dystrophy | 1 | TTN CL E G H | 7273 | 12403 | ORPHA:324604 | Classic multiminicore myopathy | HP:0040281 - Very frequent | | | 7128 | | |