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:0009130 | HP:0009130 | Hand muscle atrophy | 0 | ACTA1 CL E G H | 58 | 129 | OMIM:616852 | Myopathy, scapulohumeroperoneal | . | | | 96 | | |
HP:0009130 | HP:0009130 | Hand muscle atrophy | 0 | ALS2 CL E G H | 57679 | 443 | OMIM:205100 | Amyotrophic lateral sclerosis 2, juvenile | . | | | 114 | | |
HP:0009130 | HP:0009130 | Hand muscle atrophy | 0 | BSCL2 CL E G H | 26580 | 15832 | ORPHA:100998 | Autosomal dominant spastic paraplegia type 17 | HP:0040282 - Frequent | | | 105 | | |
HP:0009130 | HP:0009130 | Hand muscle atrophy | 0 | BSCL2 CL E G H | 26580 | 15832 | ORPHA:139536 | Distal hereditary motor neuropathy type 5 | | | | 105 | | |
HP:0009130 | HP:0009130 | Hand muscle atrophy | 0 | BSCL2 CL E G H | 26580 | 15832 | OMIM:619112 | NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC; HMN5C | | | | 105 | | |
HP:0009130 | HP:0009130 | Hand muscle atrophy | 0 | BSCL2 CL E G H | 26580 | 15832 | OMIM:270685 | Spastic paraplegia 17 | | | | 105 | | |
HP:0009130 | HP:0009130 | Hand muscle atrophy | 0 | CAV3 CL E G H | 859 | 1529 | ORPHA:488650 | Distal myopathy, Tateyama type | | | | 148 | | |
HP:0009130 | HP:0009130 | Hand muscle atrophy | 0 | CAV3 CL E G H | 859 | 1529 | OMIM:614321 | Myopathy, distal, Tateyama type | | | | 148 | | |
HP:0009130 | HP:0009130 | Hand muscle atrophy | 0 | CHCHD10 CL E G H | 400916 | 15559 | ORPHA:276435 | Lower motor neuron syndrome with late-adult onset | | | | 11 | | |
HP:0009130 | HP:0009130 | Hand muscle atrophy | 0 | CHRNA1 CL E G H | 1134 | 1955 | OMIM:601462 | Myasthenic syndrome, congenital, 1A, slow-channel | | | | 74 | | |
HP:0009130 | HP:0009130 | Hand muscle atrophy | 0 | COMP CL E G H | 1311 | 2227 | OMIM:619161 | CARPAL TUNNEL SYNDROME 2; CTS2 | | | | 89 | | |
HP:0009130 | HP:0009130 | Hand muscle atrophy | 0 | DCTN1 CL E G H | 1639 | 2711 | OMIM:607641 | Neuronopathy, distal hereditary motor, type VIIB | . | | | 86 | | |
HP:0009130 | HP:0009130 | Hand muscle atrophy | 0 | DYSF CL E G H | 8291 | 3097 | ORPHA:178400 | Distal myopathy with anterior tibial onset | | | | 600 | | |
HP:0009130 | HP:0009130 | Hand muscle atrophy | 0 | FLNC CL E G H | 2318 | 3756 | ORPHA:63273 | Distal myopathy with posterior leg and anterior hand involvement | | | | 197 | | |
HP:0009130 | HP:0009130 | Hand muscle atrophy | 0 | FUZ CL E G H | 80199 | 26219 | ORPHA:1136 | Arnold-Chiari malformation type II | HP:0040283 - Occasional | | | 3 | | |
HP:0009130 | HP:0009130 | Hand muscle atrophy | 0 | FXN CL E G H | 2395 | 3951 | ORPHA:95 | Friedreich ataxia | HP:0040281 - Very frequent | | | 18 | | |
HP:0009130 | HP:0009130 | Hand muscle atrophy | 0 | GARS1 CL E G H | 2617 | 4162 | OMIM:601472 | Charcot-Marie-Tooth disease, axonal, type 2D | | | | | | |
HP:0009130 | HP:0009130 | Hand muscle atrophy | 0 | GARS1 CL E G H | 2617 | 4162 | ORPHA:139536 | Distal hereditary motor neuropathy type 5 | | | | | | |
HP:0009130 | HP:0009130 | Hand muscle atrophy | 0 | GARS1 CL E G H | 2617 | 4162 | OMIM:600794 | Neuronopathy, distal hereditary motor, type VA | | | | | | |
HP:0009130 | HP:0009130 | Hand muscle atrophy | 0 | GBF1 CL E G H | 8729 | 4181 | OMIM:606483 | Charcot-Marie-Tooth disease, dominant intermediate A | | | | | | |
HP:0009130 | HP:0009130 | Hand muscle atrophy | 0 | GDAP1 CL E G H | 54332 | 15968 | ORPHA:99944 | Autosomal dominant Charcot-Marie-Tooth disease type 2K | HP:0040282 - Frequent | | | 108 | | |
HP:0009130 | HP:0009130 | Hand muscle atrophy | 0 | GDAP1 CL E G H | 54332 | 15968 | ORPHA:101097 | Autosomal recessive Charcot-Marie-Tooth disease with hoarseness | | | | 108 | | |
HP:0009130 | HP:0009130 | Hand muscle atrophy | 0 | HARS1 CL E G H | 3035 | 4816 | ORPHA:488333 | Autosomal dominant Charcot-Marie-Tooth disease type 2W | | | | | | |
HP:0009130 | HP:0009130 | Hand muscle atrophy | 0 | HINT1 CL E G H | 3094 | 4912 | ORPHA:324442 | Autosomal recessive axonal neuropathy with neuromyotonia | HP:0040283 - Occasional | | | 12 | | |
HP:0009130 | HP:0009130 | Hand muscle atrophy | 0 | HSPB3 CL E G H | 8988 | 5248 | OMIM:613376 | Neuronopathy, distal hereditary motor, type IIC | | | | 13 | | |
HP:0009130 | HP:0009130 | Hand muscle atrophy | 0 | IDUA CL E G H | 3425 | 5391 | OMIM:607015 | Hurler-Scheie syndrome | | | | 115 | | |
HP:0009130 | HP:0009130 | Hand muscle atrophy | 0 | JAG1 CL E G H | 182 | 6188 | OMIM:619574 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH | | | | 257 | | |
HP:0009130 | HP:0009130 | Hand muscle atrophy | 0 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363958 | 17q21.31 microdeletion syndrome | HP:0040283 - Occasional | | | 283 | | |
HP:0009130 | HP:0009130 | Hand muscle atrophy | 0 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363965 | Koolen-De Vries syndrome due to a point mutation | HP:0040283 - Occasional | | | 283 | | |
HP:0009130 | HP:0009130 | Hand muscle atrophy | 0 | KIF1A CL E G H | 547 | 888 | OMIM:614213 | Neuropathy, hereditary sensory, type IIC | | | | 276 | | |
HP:0009130 | HP:0009130 | Hand muscle atrophy | 0 | KLHL9 CL E G H | 55958 | 18732 | ORPHA:399081 | KLHL9-related early-onset distal myopathy | | | | 3 | | |
HP:0009130 | HP:0009130 | Hand muscle atrophy | 0 | LDB3 CL E G H | 11155 | 15710 | ORPHA:98912 | Late-onset distal myopathy, Markesbery-Griggs type | | | | 286 | | |
HP:0009130 | HP:0009130 | Hand muscle atrophy | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:98856 | Charcot-Marie-Tooth disease type 2B1 | | | | 645 | | |
HP:0009130 | HP:0009130 | Hand muscle atrophy | 0 | MARS1 CL E G H | 4141 | 6898 | OMIM:616280 | Charcot-Marie-Tooth disease, axonal, type 2U | | | | | | |
HP:0009130 | HP:0009130 | Hand muscle atrophy | 0 | MORC2 CL E G H | 22880 | 23573 | OMIM:616688 | Charcot-Marie-Tooth disease, axonal, type 2Z | | | | 8 | | |
HP:0009130 | HP:0009130 | Hand muscle atrophy | 0 | MPZ CL E G H | 4359 | 7225 | ORPHA:3115 | Roussy-Lévy syndrome | | | | 134 | | |
HP:0009130 | HP:0009130 | Hand muscle atrophy | 0 | NEB CL E G H | 4703 | 7720 | OMIM:256030 | Nemaline myopathy 2, autosomal recessive | | | | 745 | | |
HP:0009130 | HP:0009130 | Hand muscle atrophy | 0 | NEFL CL E G H | 4747 | 7739 | ORPHA:101085 | Charcot-Marie-Tooth disease type 1F | HP:0040282 - Frequent | | | 118 | | |
HP:0009130 | HP:0009130 | Hand muscle atrophy | 0 | NEFL CL E G H | 4747 | 7739 | OMIM:607684 | Charcot-Marie-Tooth disease, axonal, type 2E | | | | 118 | | |
HP:0009130 | HP:0009130 | Hand muscle atrophy | 0 | NGLY1 CL E G H | 55768 | 17646 | OMIM:615273 | Congenital disorder of deglycosylation | | | | 32 | | |
HP:0009130 | HP:0009130 | Hand muscle atrophy | 0 | PDK3 CL E G H | 5165 | 8811 | ORPHA:352675 | X-linked Charcot-Marie-Tooth disease type 6 | | | | 4 | | |
HP:0009130 | HP:0009130 | Hand muscle atrophy | 0 | PLOD3 CL E G H | 8985 | 9083 | OMIM:612394 | Bone fragility with contractures, arterial rupture, and deafness | | | | 5 | | |
HP:0009130 | HP:0009130 | Hand muscle atrophy | 0 | PMP22 CL E G H | 5376 | 9118 | ORPHA:90658 | Charcot-Marie-Tooth disease type 1E | HP:0040282 - Frequent | | | 79 | | |
HP:0009130 | HP:0009130 | Hand muscle atrophy | 0 | PMP22 CL E G H | 5376 | 9118 | ORPHA:3115 | Roussy-Lévy syndrome | | | | 79 | | |
HP:0009130 | HP:0009130 | Hand muscle atrophy | 0 | PRX CL E G H | 57716 | 13797 | OMIM:614895 | Charcot-Marie-Tooth disease, demyelinating, type 4F | | | | 170 | | |
HP:0009130 | HP:0009130 | Hand muscle atrophy | 0 | REEP1 CL E G H | 65055 | 25786 | ORPHA:139536 | Distal hereditary motor neuropathy type 5 | | | | 87 | | |
HP:0009130 | HP:0009130 | Hand muscle atrophy | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:178145 | Moderate multiminicore disease with hand involvement | | | | 1200 | | |
HP:0009130 | HP:0009130 | Hand muscle atrophy | 0 | SLC12A6 CL E G H | 9990 | 10914 | OMIM:620068 | | | | | 163 | | |
HP:0009130 | HP:0009130 | Hand muscle atrophy | 0 | SLC25A21 CL E G H | 89874 | 14411 | OMIM:618811 | MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18 | | | | | | |
HP:0009130 | HP:0009130 | Hand muscle atrophy | 0 | SLC39A13 CL E G H | 91252 | 20859 | OMIM:612350 | Ehlers-Danlos syndrome, spondylodysplastic type, 3 | | | | 24 | | |
HP:0009130 | HP:0009130 | Hand muscle atrophy | 0 | SLC39A13 CL E G H | 91252 | 20859 | ORPHA:157965 | SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome | | | | 24 | | |
HP:0009130 | HP:0009130 | Hand muscle atrophy | 0 | SLC52A3 CL E G H | 113278 | 16187 | OMIM:211530 | Brown-Vialetto-Van laere syndrome 1 | . | | | 51 | | |
HP:0009130 | HP:0009130 | Hand muscle atrophy | 0 | SLC5A6 CL E G H | 8884 | 11041 | OMIM:619903 | | | | | | | |
HP:0009130 | HP:0009130 | Hand muscle atrophy | 0 | SPG11 CL E G H | 80208 | 11226 | OMIM:604360 | Spastic paraplegia 11, autosomal recessive | | | | 287 | | |
HP:0009130 | HP:0009130 | Hand muscle atrophy | 0 | SQSTM1 CL E G H | 8878 | 11280 | ORPHA:603 | Distal myopathy, Welander type | | | | 62 | | |
HP:0009130 | HP:0009130 | Hand muscle atrophy | 0 | SVBP CL E G H | 374969 | 29204 | OMIM:618569 | NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM | | | | | | |
HP:0009130 | HP:0009130 | Hand muscle atrophy | 0 | TFG CL E G H | 10342 | 11758 | OMIM:615658 | Spastic paraplegia 57, autosomal recessive | | | | 18 | | |
HP:0009130 | HP:0009130 | Hand muscle atrophy | 0 | TIA1 CL E G H | 7072 | 11802 | ORPHA:603 | Distal myopathy, Welander type | | | | 5 | | |
HP:0009130 | HP:0009130 | Hand muscle atrophy | 0 | TIMM8A CL E G H | 1678 | 11817 | OMIM:304700 | Mohr-Tranebjaerg syndrome | | | | 15 | | |
HP:0009130 | HP:0009130 | Hand muscle atrophy | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:606071 | Hereditary motor and sensory neuropathy, type IIC | . | | | 214 | | |
HP:0009130 | HP:0009130 | Hand muscle atrophy | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:329478 | Adult-onset distal myopathy due to VCP mutation | | | | 63 | | |
HP:0009130 | HP:0009130 | Hand muscle atrophy | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:435387 | Autosomal dominant Charcot-Marie-Tooth disease type 2Y | HP:0040282 - Frequent | | | 63 | | |
HP:0009130 | HP:0003393 | Thenar muscle atrophy | 1 | BSCL2 CL E G H | 26580 | 15832 | ORPHA:139536 | Distal hereditary motor neuropathy type 5 | HP:0040282 - Frequent | | | 105 | | |
HP:0009130 | HP:0003393 | Thenar muscle atrophy | 1 | BSCL2 CL E G H | 26580 | 15832 | OMIM:619112 | NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC; HMN5C | | | | 105 | | |
HP:0009130 | HP:0003393 | Thenar muscle atrophy | 1 | BSCL2 CL E G H | 26580 | 15832 | OMIM:270685 | Spastic paraplegia 17 | . | | | 105 | | |
HP:0009130 | HP:0008954 | Intrinsic hand muscle atrophy | 1 | CAV3 CL E G H | 859 | 1529 | ORPHA:488650 | Distal myopathy, Tateyama type | HP:0040282 - Frequent | | | 148 | | |
HP:0009130 | HP:0008954 | Intrinsic hand muscle atrophy | 1 | CAV3 CL E G H | 859 | 1529 | OMIM:614321 | Myopathy, distal, Tateyama type | | | | 148 | | |
HP:0009130 | HP:0008954 | Intrinsic hand muscle atrophy | 1 | CHCHD10 CL E G H | 400916 | 15559 | ORPHA:276435 | Lower motor neuron syndrome with late-adult onset | HP:0040283 - Occasional | | | 11 | | |
HP:0009130 | HP:0008954 | Intrinsic hand muscle atrophy | 1 | CHRNA1 CL E G H | 1134 | 1955 | OMIM:601462 | Myasthenic syndrome, congenital, 1A, slow-channel | | | | 74 | | |
HP:0009130 | HP:0003393 | Thenar muscle atrophy | 1 | COMP CL E G H | 1311 | 2227 | OMIM:619161 | CARPAL TUNNEL SYNDROME 2; CTS2 | | | | 89 | | |
HP:0009130 | HP:0008954 | Intrinsic hand muscle atrophy | 1 | DYSF CL E G H | 8291 | 3097 | ORPHA:178400 | Distal myopathy with anterior tibial onset | HP:0040283 - Occasional | | | 600 | | |
HP:0009130 | HP:0008954 | Intrinsic hand muscle atrophy | 1 | FLNC CL E G H | 2318 | 3756 | ORPHA:63273 | Distal myopathy with posterior leg and anterior hand involvement | HP:0040281 - Very frequent | | | 197 | | |
HP:0009130 | HP:0003393 | Thenar muscle atrophy | 1 | GARS1 CL E G H | 2617 | 4162 | OMIM:601472 | Charcot-Marie-Tooth disease, axonal, type 2D | . | | | | | |
HP:0009130 | HP:0003393 | Thenar muscle atrophy | 1 | GARS1 CL E G H | 2617 | 4162 | ORPHA:139536 | Distal hereditary motor neuropathy type 5 | HP:0040282 - Frequent | | | | | |
HP:0009130 | HP:0003393 | Thenar muscle atrophy | 1 | GARS1 CL E G H | 2617 | 4162 | OMIM:600794 | Neuronopathy, distal hereditary motor, type VA | . | | | | | |
HP:0009130 | HP:0003393 | Thenar muscle atrophy | 1 | GBF1 CL E G H | 8729 | 4181 | OMIM:606483 | Charcot-Marie-Tooth disease, dominant intermediate A | | | | | | |
HP:0009130 | HP:0008954 | Intrinsic hand muscle atrophy | 1 | GDAP1 CL E G H | 54332 | 15968 | ORPHA:101097 | Autosomal recessive Charcot-Marie-Tooth disease with hoarseness | | | | 108 | | |
HP:0009130 | HP:0008954 | Intrinsic hand muscle atrophy | 1 | HARS1 CL E G H | 3035 | 4816 | ORPHA:488333 | Autosomal dominant Charcot-Marie-Tooth disease type 2W | HP:0040283 - Occasional | | | | | |
HP:0009130 | HP:0008954 | Intrinsic hand muscle atrophy | 1 | HINT1 CL E G H | 3094 | 4912 | ORPHA:324442 | Autosomal recessive axonal neuropathy with neuromyotonia | HP:0040283 - Occasional | | | 12 | | |
HP:0009130 | HP:0008954 | Intrinsic hand muscle atrophy | 1 | HSPB3 CL E G H | 8988 | 5248 | OMIM:613376 | Neuronopathy, distal hereditary motor, type IIC | | | | 13 | | |
HP:0009130 | HP:0003393 | Thenar muscle atrophy | 1 | IDUA CL E G H | 3425 | 5391 | OMIM:607015 | Hurler-Scheie syndrome | | | | 115 | | |
HP:0009130 | HP:0008954 | Intrinsic hand muscle atrophy | 1 | JAG1 CL E G H | 182 | 6188 | OMIM:619574 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH | | | | 257 | | |
HP:0009130 | HP:0008954 | Intrinsic hand muscle atrophy | 1 | KIF1A CL E G H | 547 | 888 | OMIM:614213 | Neuropathy, hereditary sensory, type IIC | | | | 276 | | |
HP:0009130 | HP:0008954 | Intrinsic hand muscle atrophy | 1 | KLHL9 CL E G H | 55958 | 18732 | ORPHA:399081 | KLHL9-related early-onset distal myopathy | HP:0040282 - Frequent | | | 3 | | |
HP:0009130 | HP:0008954 | Intrinsic hand muscle atrophy | 1 | LDB3 CL E G H | 11155 | 15710 | ORPHA:98912 | Late-onset distal myopathy, Markesbery-Griggs type | HP:0040282 - Frequent | | | 286 | | |
HP:0009130 | HP:0008954 | Intrinsic hand muscle atrophy | 1 | MORC2 CL E G H | 22880 | 23573 | OMIM:616688 | Charcot-Marie-Tooth disease, axonal, type 2Z | | | | 8 | | |
HP:0009130 | HP:0008954 | Intrinsic hand muscle atrophy | 1 | MPZ CL E G H | 4359 | 7225 | ORPHA:3115 | Roussy-Lévy syndrome | HP:0040283 - Occasional | | | 134 | | |
HP:0009130 | HP:0003393 | Thenar muscle atrophy | 1 | NEB CL E G H | 4703 | 7720 | OMIM:256030 | Nemaline myopathy 2, autosomal recessive | | | | 745 | | |
HP:0009130 | HP:0008954 | Intrinsic hand muscle atrophy | 1 | NGLY1 CL E G H | 55768 | 17646 | OMIM:615273 | Congenital disorder of deglycosylation | | | | 32 | | |
HP:0009130 | HP:0003393 | Thenar muscle atrophy | 1 | PDK3 CL E G H | 5165 | 8811 | ORPHA:352675 | X-linked Charcot-Marie-Tooth disease type 6 | HP:0040282 - Frequent | | | 4 | | |
HP:0009130 | HP:0003393 | Thenar muscle atrophy | 1 | PLOD3 CL E G H | 8985 | 9083 | OMIM:612394 | Bone fragility with contractures, arterial rupture, and deafness | . | | | 5 | | |
HP:0009130 | HP:0008954 | Intrinsic hand muscle atrophy | 1 | PMP22 CL E G H | 5376 | 9118 | ORPHA:3115 | Roussy-Lévy syndrome | HP:0040283 - Occasional | | | 79 | | |
HP:0009130 | HP:0008954 | Intrinsic hand muscle atrophy | 1 | PRX CL E G H | 57716 | 13797 | OMIM:614895 | Charcot-Marie-Tooth disease, demyelinating, type 4F | | | | 170 | | |
HP:0009130 | HP:0003393 | Thenar muscle atrophy | 1 | REEP1 CL E G H | 65055 | 25786 | ORPHA:139536 | Distal hereditary motor neuropathy type 5 | HP:0040282 - Frequent | | | 87 | | |
HP:0009130 | HP:0008954 | Intrinsic hand muscle atrophy | 1 | RYR1 CL E G H | 6261 | 10483 | ORPHA:178145 | Moderate multiminicore disease with hand involvement | HP:0040282 - Frequent | | | 1200 | | |
HP:0009130 | HP:0008954 | Intrinsic hand muscle atrophy | 1 | SLC12A6 CL E G H | 9990 | 10914 | OMIM:620068 | | | | | 163 | | |
HP:0009130 | HP:0003393 | Thenar muscle atrophy | 1 | SLC39A13 CL E G H | 91252 | 20859 | OMIM:612350 | Ehlers-Danlos syndrome, spondylodysplastic type, 3 | . | | | 24 | | |
HP:0009130 | HP:0003393 | Thenar muscle atrophy | 1 | SLC39A13 CL E G H | 91252 | 20859 | ORPHA:157965 | SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 24 | | |
HP:0009130 | HP:0003393 | Thenar muscle atrophy | 1 | SLC5A6 CL E G H | 8884 | 11041 | OMIM:619903 | | | | | | | |
HP:0009130 | HP:0003393 | Thenar muscle atrophy | 1 | SPG11 CL E G H | 80208 | 11226 | OMIM:604360 | Spastic paraplegia 11, autosomal recessive | . | | | 287 | | |
HP:0009130 | HP:0008954 | Intrinsic hand muscle atrophy | 1 | SQSTM1 CL E G H | 8878 | 11280 | ORPHA:603 | Distal myopathy, Welander type | HP:0040281 - Very frequent | | | 62 | | |
HP:0009130 | HP:0008954 | Intrinsic hand muscle atrophy | 1 | SVBP CL E G H | 374969 | 29204 | OMIM:618569 | NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM | | | | | | |
HP:0009130 | HP:0008954 | Intrinsic hand muscle atrophy | 1 | TIA1 CL E G H | 7072 | 11802 | ORPHA:603 | Distal myopathy, Welander type | HP:0040281 - Very frequent | | | 5 | | |
HP:0009130 | HP:0008954 | Intrinsic hand muscle atrophy | 1 | TIMM8A CL E G H | 1678 | 11817 | OMIM:304700 | Mohr-Tranebjaerg syndrome | | | | 15 | | |
HP:0009130 | HP:0008954 | Intrinsic hand muscle atrophy | 1 | VCP CL E G H | 7415 | 12666 | ORPHA:329478 | Adult-onset distal myopathy due to VCP mutation | HP:0040282 - Frequent | | | 63 | | |