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:0005109 | HP:0005109 | Abnormality of the Achilles tendon | 0 | ABCC9 CL E G H | 10060 | 60 | OMIM:619719 | INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS | | | | 254 | | |
HP:0005109 | HP:0005109 | Abnormality of the Achilles tendon | 0 | ABHD12 CL E G H | 26090 | 15868 | OMIM:612674 | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract | | | | 50 | | |
HP:0005109 | HP:0005109 | Abnormality of the Achilles tendon | 0 | ACTA1 CL E G H | 58 | 129 | OMIM:616852 | Myopathy, scapulohumeroperoneal | | | | 96 | | |
HP:0005109 | HP:0005109 | Abnormality of the Achilles tendon | 0 | ADAT3 CL E G H | 113179 | 25151 | ORPHA:363528 | Intellectual disability-strabismus syndrome | | | | 9 | | |
HP:0005109 | HP:0005109 | Abnormality of the Achilles tendon | 0 | ALS2 CL E G H | 57679 | 443 | OMIM:607225 | Spastic paralysis, infantile-onset ascending | | | | 114 | | |
HP:0005109 | HP:0005109 | Abnormality of the Achilles tendon | 0 | ARL6IP1 CL E G H | 23204 | 697 | ORPHA:401780 | Autosomal recessive spastic paraplegia type 61 | HP:0040282 - Frequent | | | 1 | | |
HP:0005109 | HP:0005109 | Abnormality of the Achilles tendon | 0 | BICD2 CL E G H | 23299 | 17208 | ORPHA:363454 | BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy | HP:0040283 - Occasional | | | 46 | | |
HP:0005109 | HP:0005109 | Abnormality of the Achilles tendon | 0 | BICD2 CL E G H | 23299 | 17208 | OMIM:615290 | Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant | | | | 46 | | |
HP:0005109 | HP:0005109 | Abnormality of the Achilles tendon | 0 | COL12A1 CL E G H | 1303 | 2188 | ORPHA:610 | Bethlem myopathy | | | | 65 | | |
HP:0005109 | HP:0005109 | Abnormality of the Achilles tendon | 0 | COL6A1 CL E G H | 1291 | 2211 | ORPHA:610 | Bethlem myopathy | | | | 442 | | |
HP:0005109 | HP:0005109 | Abnormality of the Achilles tendon | 0 | COL6A2 CL E G H | 1292 | 2212 | ORPHA:610 | Bethlem myopathy | | | | 478 | | |
HP:0005109 | HP:0005109 | Abnormality of the Achilles tendon | 0 | COL6A2 CL E G H | 1292 | 2212 | OMIM:255600 | Myosclerosis, autosomal recessive | | | | 478 | | |
HP:0005109 | HP:0005109 | Abnormality of the Achilles tendon | 0 | COL6A3 CL E G H | 1293 | 2213 | ORPHA:610 | Bethlem myopathy | | | | 702 | | |
HP:0005109 | HP:0005109 | Abnormality of the Achilles tendon | 0 | CRPPA CL E G H | 729920 | 37276 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | | | | | | |
HP:0005109 | HP:0005109 | Abnormality of the Achilles tendon | 0 | CYP27A1 CL E G H | 1593 | 2605 | ORPHA:909 | Cerebrotendinous xanthomatosis | HP:0040282 - Frequent | | | 114 | | |
HP:0005109 | HP:0005109 | Abnormality of the Achilles tendon | 0 | DMD CL E G H | 1756 | 2928 | OMIM:310200 | Duchenne muscular dystrophy | | | | 1496 | | |
HP:0005109 | HP:0005109 | Abnormality of the Achilles tendon | 0 | EMD CL E G H | 2010 | 3331 | OMIM:310300 | Emery-Dreifuss muscular dystrophy 1, X-linked | | | | 107 | | |
HP:0005109 | HP:0005109 | Abnormality of the Achilles tendon | 0 | EMD CL E G H | 2010 | 3331 | ORPHA:98863 | X-linked Emery-Dreifuss muscular dystrophy | | | | 107 | | |
HP:0005109 | HP:0005109 | Abnormality of the Achilles tendon | 0 | FHL1 CL E G H | 2273 | 3702 | OMIM:300696 | Myopathy, X-linked, with postural muscle atrophy | | | | 68 | | |
HP:0005109 | HP:0005109 | Abnormality of the Achilles tendon | 0 | FHL1 CL E G H | 2273 | 3702 | ORPHA:98863 | X-linked Emery-Dreifuss muscular dystrophy | | | | 68 | | |
HP:0005109 | HP:0005109 | Abnormality of the Achilles tendon | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | | | | 157 | | |
HP:0005109 | HP:0005109 | Abnormality of the Achilles tendon | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:34515 | FKRP-related limb-girdle muscular dystrophy R9 | HP:0040282 - Frequent | | | 157 | | |
HP:0005109 | HP:0005109 | Abnormality of the Achilles tendon | 0 | FKRP CL E G H | 79147 | 17997 | OMIM:606612 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5 | | | | 157 | | |
HP:0005109 | HP:0005109 | Abnormality of the Achilles tendon | 0 | FKRP CL E G H | 79147 | 17997 | OMIM:607155 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 | | | | 157 | | |
HP:0005109 | HP:0005109 | Abnormality of the Achilles tendon | 0 | FKTN CL E G H | 2218 | 3622 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | | | | 184 | | |
HP:0005109 | HP:0005109 | Abnormality of the Achilles tendon | 0 | GAN CL E G H | 8139 | 4137 | ORPHA:643 | Giant axonal neuropathy | HP:0040281 - Very frequent | | | 121 | | |
HP:0005109 | HP:0005109 | Abnormality of the Achilles tendon | 0 | GJB1 CL E G H | 2705 | 4283 | OMIM:302800 | Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 | | | | 107 | | |
HP:0005109 | HP:0005109 | Abnormality of the Achilles tendon | 0 | GNS CL E G H | 2799 | 4422 | OMIM:252940 | Mucopolysaccharidosis, type IIID | | | | 69 | | |
HP:0005109 | HP:0005109 | Abnormality of the Achilles tendon | 0 | HGD CL E G H | 3081 | 4892 | OMIM:203500 | Alkaptonuria | | | | 77 | | |
HP:0005109 | HP:0005109 | Abnormality of the Achilles tendon | 0 | HGD CL E G H | 3081 | 4892 | ORPHA:56 | Alkaptonuria | | | | 77 | | |
HP:0005109 | HP:0005109 | Abnormality of the Achilles tendon | 0 | HINT1 CL E G H | 3094 | 4912 | ORPHA:324442 | Autosomal recessive axonal neuropathy with neuromyotonia | | | | 12 | | |
HP:0005109 | HP:0005109 | Abnormality of the Achilles tendon | 0 | HRAS CL E G H | 3265 | 5173 | OMIM:218040 | Costello syndrome | | | | 113 | | |
HP:0005109 | HP:0005109 | Abnormality of the Achilles tendon | 0 | HRAS CL E G H | 3265 | 5173 | ORPHA:3071 | Costello syndrome | | | | 113 | | |
HP:0005109 | HP:0005109 | Abnormality of the Achilles tendon | 0 | JAG2 CL E G H | 3714 | 6189 | OMIM:619566 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27 | | | | 1 | | |
HP:0005109 | HP:0005109 | Abnormality of the Achilles tendon | 0 | KL CL E G H | 9365 | 6344 | OMIM:617994 | TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3; HFTC3 | | | | 68 | | |
HP:0005109 | HP:0005109 | Abnormality of the Achilles tendon | 0 | KRT1 CL E G H | 3848 | 6412 | ORPHA:530838 | KRT1-related diffuse nonepidermolytic keratoderma | | | | 100 | | |
HP:0005109 | HP:0005109 | Abnormality of the Achilles tendon | 0 | KY CL E G H | 339855 | 26576 | OMIM:617114 | MYOPATHY, MYOFIBRILLAR, 7; MFM7 | | | | 3 | | |
HP:0005109 | HP:0005109 | Abnormality of the Achilles tendon | 0 | LARGE1 CL E G H | 9215 | 6511 | OMIM:608840 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6 | | | | 136 | | |
HP:0005109 | HP:0005109 | Abnormality of the Achilles tendon | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:79474 | Atypical Werner syndrome | HP:0040281 - Very frequent | | | 645 | | |
HP:0005109 | HP:0005109 | Abnormality of the Achilles tendon | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | | | | 645 | | |
HP:0005109 | HP:0005109 | Abnormality of the Achilles tendon | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:98855 | Autosomal recessive Emery-Dreifuss muscular dystrophy | | | | 645 | | |
HP:0005109 | HP:0005109 | Abnormality of the Achilles tendon | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:181350 | Emery-Dreifuss muscular dystrophy 2, autosomal dominant | | | | 645 | | |
HP:0005109 | HP:0005109 | Abnormality of the Achilles tendon | 0 | LMX1B CL E G H | 4010 | 6654 | ORPHA:2614 | Nail-patella syndrome | | | | 165 | | |
HP:0005109 | HP:0005109 | Abnormality of the Achilles tendon | 0 | MYOT CL E G H | 9499 | 12399 | OMIM:609200 | MYOTILINOPATHY | | | | 75 | | |
HP:0005109 | HP:0005109 | Abnormality of the Achilles tendon | 0 | NGLY1 CL E G H | 55768 | 17646 | ORPHA:404454 | Alacrimia-choreoathetosis-liver dysfunction syndrome | | | | 32 | | |
HP:0005109 | HP:0005109 | Abnormality of the Achilles tendon | 0 | NSUN2 CL E G H | 54888 | 25994 | OMIM:611091 | Mental retardation, autosomal recessive 5 | | | | 84 | | |
HP:0005109 | HP:0005109 | Abnormality of the Achilles tendon | 0 | OPA1 CL E G H | 4976 | 8140 | OMIM:210000 | Behr syndrome | | | | 214 | | |
HP:0005109 | HP:0005109 | Abnormality of the Achilles tendon | 0 | PLEC CL E G H | 5339 | 9069 | ORPHA:254361 | Plectin-related limb-girdle muscular dystrophy R17 | | | | 759 | | |
HP:0005109 | HP:0005109 | Abnormality of the Achilles tendon | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | | | | 213 | | |
HP:0005109 | HP:0005109 | Abnormality of the Achilles tendon | 0 | POU3F4 CL E G H | 5456 | 9217 | ORPHA:1435 | Xq21 microdeletion syndrome | HP:0040282 - Frequent | | | 40 | | |
HP:0005109 | HP:0005109 | Abnormality of the Achilles tendon | 0 | PRKCG CL E G H | 5582 | 9402 | ORPHA:98763 | Spinocerebellar ataxia type 14 | HP:0040282 - Frequent | | | 83 | | |
HP:0005109 | HP:0005109 | Abnormality of the Achilles tendon | 0 | PTRH2 CL E G H | 51651 | 24265 | ORPHA:456312 | Infantile multisystem neurologic-endocrine-pancreatic disease | | | | 6 | | |
HP:0005109 | HP:0005109 | Abnormality of the Achilles tendon | 0 | PYROXD1 CL E G H | 79912 | 26162 | OMIM:617258 | MYOPATHY, MYOFIBRILLAR, 8; MFM8 | | | | 5 | | |
HP:0005109 | HP:0005109 | Abnormality of the Achilles tendon | 0 | SGCA CL E G H | 6442 | 10805 | ORPHA:62 | Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 | | | | 132 | | |
HP:0005109 | HP:0005109 | Abnormality of the Achilles tendon | 0 | SGCG CL E G H | 6445 | 10809 | ORPHA:353 | Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 | | | | 83 | | |
HP:0005109 | HP:0005109 | Abnormality of the Achilles tendon | 0 | SLC12A6 CL E G H | 9990 | 10914 | OMIM:620068 | | | | | 163 | | |
HP:0005109 | HP:0005109 | Abnormality of the Achilles tendon | 0 | SLC25A4 CL E G H | 291 | 10990 | OMIM:615418 | Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type) | | | | 68 | | |
HP:0005109 | HP:0005109 | Abnormality of the Achilles tendon | 0 | SLC39A14 CL E G H | 23516 | 20858 | OMIM:617013 | Hypermanganesemia with dystonia 2 | | | | 5 | | |
HP:0005109 | HP:0005109 | Abnormality of the Achilles tendon | 0 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | | | | 1129 | | |
HP:0005109 | HP:0005109 | Abnormality of the Achilles tendon | 0 | SYNE2 CL E G H | 23224 | 17084 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | | | | 508 | | |
HP:0005109 | HP:0005109 | Abnormality of the Achilles tendon | 0 | TFG CL E G H | 10342 | 11758 | ORPHA:431329 | Autosomal recessive spastic paraplegia type 57 | HP:0040281 - Very frequent | | | 18 | | |
HP:0005109 | HP:0005109 | Abnormality of the Achilles tendon | 0 | TMEM43 CL E G H | 79188 | 28472 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | | | | 171 | | |
HP:0005109 | HP:0005109 | Abnormality of the Achilles tendon | 0 | TRNE CL E G H | 4556 | 7479 | ORPHA:2596 | Myopathy and diabetes mellitus | | | | | | |
HP:0005109 | HP:0005109 | Abnormality of the Achilles tendon | 0 | TTN CL E G H | 7273 | 12403 | OMIM:603689 | Myopathy, myofibrillar, 9, with early respiratory failure | | | | 7128 | | |
HP:0005109 | HP:0005109 | Abnormality of the Achilles tendon | 0 | ZC4H2 CL E G H | 55906 | 24931 | OMIM:301041 | WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR | | | | 19 | | |
HP:0005109 | HP:0001771 | Achilles tendon contracture | 1 | ABCC9 CL E G H | 10060 | 60 | OMIM:619719 | INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS | | | | 254 | | |
HP:0005109 | HP:0001771 | Achilles tendon contracture | 1 | ABHD12 CL E G H | 26090 | 15868 | OMIM:612674 | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract | . | | | 50 | | |
HP:0005109 | HP:0001771 | Achilles tendon contracture | 1 | ACTA1 CL E G H | 58 | 129 | OMIM:616852 | Myopathy, scapulohumeroperoneal | | | | 96 | | |
HP:0005109 | HP:0001771 | Achilles tendon contracture | 1 | ADAT3 CL E G H | 113179 | 25151 | ORPHA:363528 | Intellectual disability-strabismus syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0005109 | HP:0001771 | Achilles tendon contracture | 1 | ALS2 CL E G H | 57679 | 443 | OMIM:607225 | Spastic paralysis, infantile-onset ascending | . | | | 114 | | |
HP:0005109 | HP:0001771 | Achilles tendon contracture | 1 | BICD2 CL E G H | 23299 | 17208 | OMIM:615290 | Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant | . | | | 46 | | |
HP:0005109 | HP:0001771 | Achilles tendon contracture | 1 | COL12A1 CL E G H | 1303 | 2188 | ORPHA:610 | Bethlem myopathy | HP:0040283 - Occasional | | | 65 | | |
HP:0005109 | HP:0001771 | Achilles tendon contracture | 1 | COL6A1 CL E G H | 1291 | 2211 | ORPHA:610 | Bethlem myopathy | HP:0040283 - Occasional | | | 442 | | |
HP:0005109 | HP:0001771 | Achilles tendon contracture | 1 | COL6A2 CL E G H | 1292 | 2212 | ORPHA:610 | Bethlem myopathy | HP:0040283 - Occasional | | | 478 | | |
HP:0005109 | HP:0001771 | Achilles tendon contracture | 1 | COL6A2 CL E G H | 1292 | 2212 | OMIM:255600 | Myosclerosis, autosomal recessive | . | | | 478 | | |
HP:0005109 | HP:0001771 | Achilles tendon contracture | 1 | COL6A3 CL E G H | 1293 | 2213 | ORPHA:610 | Bethlem myopathy | HP:0040283 - Occasional | | | 702 | | |
HP:0005109 | HP:0001771 | Achilles tendon contracture | 1 | CRPPA CL E G H | 729920 | 37276 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | HP:0040282 - Frequent | | | | | |
HP:0005109 | HP:0001771 | Achilles tendon contracture | 1 | DMD CL E G H | 1756 | 2928 | OMIM:310200 | Duchenne muscular dystrophy | | | | 1496 | | |
HP:0005109 | HP:0001771 | Achilles tendon contracture | 1 | EMD CL E G H | 2010 | 3331 | OMIM:310300 | Emery-Dreifuss muscular dystrophy 1, X-linked | . | | | 107 | | |
HP:0005109 | HP:0001771 | Achilles tendon contracture | 1 | EMD CL E G H | 2010 | 3331 | ORPHA:98863 | X-linked Emery-Dreifuss muscular dystrophy | HP:0040283 - Occasional | | | 107 | | |
HP:0005109 | HP:0001771 | Achilles tendon contracture | 1 | FHL1 CL E G H | 2273 | 3702 | OMIM:300696 | Myopathy, X-linked, with postural muscle atrophy | | | | 68 | | |
HP:0005109 | HP:0001771 | Achilles tendon contracture | 1 | FHL1 CL E G H | 2273 | 3702 | ORPHA:98863 | X-linked Emery-Dreifuss muscular dystrophy | HP:0040283 - Occasional | | | 68 | | |
HP:0005109 | HP:0001771 | Achilles tendon contracture | 1 | FKRP CL E G H | 79147 | 17997 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | HP:0040282 - Frequent | | | 157 | | |
HP:0005109 | HP:0001771 | Achilles tendon contracture | 1 | FKRP CL E G H | 79147 | 17997 | OMIM:606612 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5 | . | | | 157 | | |
HP:0005109 | HP:0001771 | Achilles tendon contracture | 1 | FKRP CL E G H | 79147 | 17997 | OMIM:607155 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 | . | | | 157 | | |
HP:0005109 | HP:0001771 | Achilles tendon contracture | 1 | FKTN CL E G H | 2218 | 3622 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | HP:0040282 - Frequent | | | 184 | | |
HP:0005109 | HP:0001771 | Achilles tendon contracture | 1 | GJB1 CL E G H | 2705 | 4283 | OMIM:302800 | Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 | | | | 107 | | |
HP:0005109 | HP:0001771 | Achilles tendon contracture | 1 | GNS CL E G H | 2799 | 4422 | OMIM:252940 | Mucopolysaccharidosis, type IIID | | | | 69 | | |
HP:0005109 | HP:0004690 | Thickened Achilles tendon | 1 | HGD CL E G H | 3081 | 4892 | OMIM:203500 | Alkaptonuria | | | | 77 | | |
HP:0005109 | HP:0004690 | Thickened Achilles tendon | 1 | HGD CL E G H | 3081 | 4892 | ORPHA:56 | Alkaptonuria | HP:0040282 - Frequent | | | 77 | | |
HP:0005109 | HP:0001771 | Achilles tendon contracture | 1 | HINT1 CL E G H | 3094 | 4912 | ORPHA:324442 | Autosomal recessive axonal neuropathy with neuromyotonia | HP:0040283 - Occasional | | | 12 | | |
HP:0005109 | HP:0001771 | Achilles tendon contracture | 1 | HRAS CL E G H | 3265 | 5173 | OMIM:218040 | Costello syndrome | . | | | 113 | | |
HP:0005109 | HP:0004690 | Thickened Achilles tendon | 1 | HRAS CL E G H | 3265 | 5173 | ORPHA:3071 | Costello syndrome | HP:0040282 - Frequent | | | 113 | | |
HP:0005109 | HP:0001771 | Achilles tendon contracture | 1 | JAG2 CL E G H | 3714 | 6189 | OMIM:619566 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27 | | | | 1 | | |
HP:0005109 | HP:0025441 | Achilles tendon calcification | 1 | KL CL E G H | 9365 | 6344 | OMIM:617994 | TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3; HFTC3 | | | | 68 | | |
HP:0005109 | HP:0004690 | Thickened Achilles tendon | 1 | KRT1 CL E G H | 3848 | 6412 | ORPHA:530838 | KRT1-related diffuse nonepidermolytic keratoderma | HP:0040283 - Occasional | | | 100 | | |
HP:0005109 | HP:0001771 | Achilles tendon contracture | 1 | KY CL E G H | 339855 | 26576 | OMIM:617114 | MYOPATHY, MYOFIBRILLAR, 7; MFM7 | | | | 3 | | |
HP:0005109 | HP:0001771 | Achilles tendon contracture | 1 | LARGE1 CL E G H | 9215 | 6511 | OMIM:608840 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6 | . | | | 136 | | |
HP:0005109 | HP:0001771 | Achilles tendon contracture | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | HP:0040282 - Frequent | | | 645 | | |
HP:0005109 | HP:0001771 | Achilles tendon contracture | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:98855 | Autosomal recessive Emery-Dreifuss muscular dystrophy | HP:0040282 - Frequent | | | 645 | | |
HP:0005109 | HP:0001771 | Achilles tendon contracture | 1 | LMNA CL E G H | 4000 | 6636 | OMIM:181350 | Emery-Dreifuss muscular dystrophy 2, autosomal dominant | . | | | 645 | | |
HP:0005109 | HP:0001771 | Achilles tendon contracture | 1 | LMX1B CL E G H | 4010 | 6654 | ORPHA:2614 | Nail-patella syndrome | HP:0040283 - Occasional | | | 165 | | |
HP:0005109 | HP:0001771 | Achilles tendon contracture | 1 | MYOT CL E G H | 9499 | 12399 | OMIM:609200 | MYOTILINOPATHY | . | | | 75 | | |
HP:0005109 | HP:0001771 | Achilles tendon contracture | 1 | NGLY1 CL E G H | 55768 | 17646 | ORPHA:404454 | Alacrimia-choreoathetosis-liver dysfunction syndrome | HP:0040283 - Occasional | | | 32 | | |
HP:0005109 | HP:0001771 | Achilles tendon contracture | 1 | NSUN2 CL E G H | 54888 | 25994 | OMIM:611091 | Mental retardation, autosomal recessive 5 | HP:0040283 - Occasional | | | 84 | | |
HP:0005109 | HP:0001771 | Achilles tendon contracture | 1 | OPA1 CL E G H | 4976 | 8140 | OMIM:210000 | Behr syndrome | . | | | 214 | | |
HP:0005109 | HP:0001771 | Achilles tendon contracture | 1 | PLEC CL E G H | 5339 | 9069 | ORPHA:254361 | Plectin-related limb-girdle muscular dystrophy R17 | HP:0040283 - Occasional | | | 759 | | |
HP:0005109 | HP:0001771 | Achilles tendon contracture | 1 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | HP:0040282 - Frequent | | | 213 | | |
HP:0005109 | HP:0001771 | Achilles tendon contracture | 1 | PTRH2 CL E G H | 51651 | 24265 | ORPHA:456312 | Infantile multisystem neurologic-endocrine-pancreatic disease | HP:0040282 - Frequent | | | 6 | | |
HP:0005109 | HP:0001771 | Achilles tendon contracture | 1 | PYROXD1 CL E G H | 79912 | 26162 | OMIM:617258 | MYOPATHY, MYOFIBRILLAR, 8; MFM8 | | | | 5 | | |
HP:0005109 | HP:0001771 | Achilles tendon contracture | 1 | SGCA CL E G H | 6442 | 10805 | ORPHA:62 | Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 | HP:0040282 - Frequent | | | 132 | | |
HP:0005109 | HP:0001771 | Achilles tendon contracture | 1 | SGCG CL E G H | 6445 | 10809 | ORPHA:353 | Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 | HP:0040283 - Occasional | | | 83 | | |
HP:0005109 | HP:0001771 | Achilles tendon contracture | 1 | SLC12A6 CL E G H | 9990 | 10914 | OMIM:620068 | | | | | 163 | | |
HP:0005109 | HP:0001771 | Achilles tendon contracture | 1 | SLC25A4 CL E G H | 291 | 10990 | OMIM:615418 | Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type) | | | | 68 | | |
HP:0005109 | HP:0001771 | Achilles tendon contracture | 1 | SLC39A14 CL E G H | 23516 | 20858 | OMIM:617013 | Hypermanganesemia with dystonia 2 | | | | 5 | | |
HP:0005109 | HP:0001771 | Achilles tendon contracture | 1 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | HP:0040282 - Frequent | | | 1129 | | |
HP:0005109 | HP:0001771 | Achilles tendon contracture | 1 | SYNE2 CL E G H | 23224 | 17084 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | HP:0040282 - Frequent | | | 508 | | |
HP:0005109 | HP:0001771 | Achilles tendon contracture | 1 | TMEM43 CL E G H | 79188 | 28472 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | HP:0040282 - Frequent | | | 171 | | |
HP:0005109 | HP:0001771 | Achilles tendon contracture | 1 | TRNE CL E G H | 4556 | 7479 | ORPHA:2596 | Myopathy and diabetes mellitus | HP:0040284 - Very rare | | | | | |
HP:0005109 | HP:0001771 | Achilles tendon contracture | 1 | TTN CL E G H | 7273 | 12403 | OMIM:603689 | Myopathy, myofibrillar, 9, with early respiratory failure | | | | 7128 | | |
HP:0005109 | HP:0001771 | Achilles tendon contracture | 1 | ZC4H2 CL E G H | 55906 | 24931 | OMIM:301041 | WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR | | | | 19 | | |