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:0200101 | HP:0200101 | Decreased/absent ankle reflexes | 0 | AARS1 CL E G H | 16 | 20 | OMIM:613287 | Charcot-Marie-Tooth disease, axonal, type 2N | | | | | | |
HP:0200101 | HP:0200101 | Decreased/absent ankle reflexes | 0 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:447757 | Autosomal dominant spastic paraplegia type 9B | | | | 89 | | |
HP:0200101 | HP:0200101 | Decreased/absent ankle reflexes | 0 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:447760 | Autosomal recessive spastic paraplegia type 9B | | | | 89 | | |
HP:0200101 | HP:0200101 | Decreased/absent ankle reflexes | 0 | ARL6IP1 CL E G H | 23204 | 697 | OMIM:615685 | Spastic paraplegia 61, autosomal recessive | | | | 1 | | |
HP:0200101 | HP:0200101 | Decreased/absent ankle reflexes | 0 | ATP6AP2 CL E G H | 10159 | 18305 | ORPHA:93952 | X-linked intellectual disability, Hedera type | | | | 36 | | |
HP:0200101 | HP:0200101 | Decreased/absent ankle reflexes | 0 | ATXN3 CL E G H | 4287 | 7106 | OMIM:109150 | Machado-Joseph disease | | | | 14 | | |
HP:0200101 | HP:0200101 | Decreased/absent ankle reflexes | 0 | C19ORF12 CL E G H | 83636 | 25443 | ORPHA:320370 | Autosomal recessive spastic paraplegia type 43 | | | | 114 | | |
HP:0200101 | HP:0200101 | Decreased/absent ankle reflexes | 0 | CADM3 CL E G H | 57863 | 17601 | OMIM:619519 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF | | | | 1 | | |
HP:0200101 | HP:0200101 | Decreased/absent ankle reflexes | 0 | DYSF CL E G H | 8291 | 3097 | ORPHA:178400 | Distal myopathy with anterior tibial onset | | | | 600 | | |
HP:0200101 | HP:0200101 | Decreased/absent ankle reflexes | 0 | DYSF CL E G H | 8291 | 3097 | OMIM:254130 | Miyoshi muscular dystrophy 1 | . | | | 600 | | |
HP:0200101 | HP:0200101 | Decreased/absent ankle reflexes | 0 | DYSF CL E G H | 8291 | 3097 | ORPHA:45448 | Miyoshi myopathy | HP:0040283 - Occasional | | | 600 | | |
HP:0200101 | HP:0200101 | Decreased/absent ankle reflexes | 0 | GBE1 CL E G H | 2632 | 4180 | OMIM:263570 | Polyglucosan body neuropathy, adult form | | | | 86 | | |
HP:0200101 | HP:0200101 | Decreased/absent ankle reflexes | 0 | GJB1 CL E G H | 2705 | 4283 | OMIM:302800 | Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 | | | | 107 | | |
HP:0200101 | HP:0200101 | Decreased/absent ankle reflexes | 0 | GJB1 CL E G H | 2705 | 4283 | ORPHA:1175 | X-linked progressive cerebellar ataxia | HP:0040282 - Frequent | | | 107 | | |
HP:0200101 | HP:0200101 | Decreased/absent ankle reflexes | 0 | GNE CL E G H | 10020 | 23657 | ORPHA:602 | GNE myopathy | | | | 173 | | |
HP:0200101 | HP:0200101 | Decreased/absent ankle reflexes | 0 | HARS1 CL E G H | 3035 | 4816 | ORPHA:488333 | Autosomal dominant Charcot-Marie-Tooth disease type 2W | | | | | | |
HP:0200101 | HP:0200101 | Decreased/absent ankle reflexes | 0 | HARS1 CL E G H | 3035 | 4816 | OMIM:616625 | Charcot-Marie-Tooth disease, axonal, type 2W | | | | | | |
HP:0200101 | HP:0200101 | Decreased/absent ankle reflexes | 0 | HINT1 CL E G H | 3094 | 4912 | ORPHA:324442 | Autosomal recessive axonal neuropathy with neuromyotonia | | | | 12 | | |
HP:0200101 | HP:0200101 | Decreased/absent ankle reflexes | 0 | HSPB3 CL E G H | 8988 | 5248 | OMIM:613376 | Neuronopathy, distal hereditary motor, type IIC | | | | 13 | | |
HP:0200101 | HP:0200101 | Decreased/absent ankle reflexes | 0 | KLC2 CL E G H | 64837 | 20716 | OMIM:609541 | Spastic paraplegia, optic atrophy, and neuropathy | | | | 1 | | |
HP:0200101 | HP:0200101 | Decreased/absent ankle reflexes | 0 | KLHL9 CL E G H | 55958 | 18732 | ORPHA:399081 | KLHL9-related early-onset distal myopathy | | | | 3 | | |
HP:0200101 | HP:0200101 | Decreased/absent ankle reflexes | 0 | MFN2 CL E G H | 9927 | 16877 | ORPHA:99947 | Autosomal dominant Charcot-Marie-Tooth disease type 2A2 | | | | 203 | | |
HP:0200101 | HP:0200101 | Decreased/absent ankle reflexes | 0 | MORC2 CL E G H | 22880 | 23573 | OMIM:616688 | Charcot-Marie-Tooth disease, axonal, type 2Z | | | | 8 | | |
HP:0200101 | HP:0200101 | Decreased/absent ankle reflexes | 0 | MRE11 CL E G H | 4361 | 7230 | ORPHA:251347 | Ataxia-telangiectasia-like disorder | | | | 532 | | |
HP:0200101 | HP:0200101 | Decreased/absent ankle reflexes | 0 | MYOT CL E G H | 9499 | 12399 | OMIM:182920 | Myopathy, spheroid body | | | | 75 | | |
HP:0200101 | HP:0200101 | Decreased/absent ankle reflexes | 0 | NEFL CL E G H | 4747 | 7739 | ORPHA:99939 | Autosomal dominant Charcot-Marie-Tooth disease type 2E | HP:0040282 - Frequent | | | 118 | | |
HP:0200101 | HP:0200101 | Decreased/absent ankle reflexes | 0 | OPA1 CL E G H | 4976 | 8140 | ORPHA:1215 | Autosomal dominant optic atrophy plus syndrome | | | | 214 | | |
HP:0200101 | HP:0200101 | Decreased/absent ankle reflexes | 0 | OPA3 CL E G H | 80207 | 8142 | ORPHA:67036 | Autosomal dominant optic atrophy and cataract | | | | 163 | | |
HP:0200101 | HP:0200101 | Decreased/absent ankle reflexes | 0 | PDK3 CL E G H | 5165 | 8811 | ORPHA:352675 | X-linked Charcot-Marie-Tooth disease type 6 | | | | 4 | | |
HP:0200101 | HP:0200101 | Decreased/absent ankle reflexes | 0 | PEX10 CL E G H | 5192 | 8851 | OMIM:614871 | Peroxisome biogenesis disorder 6B | | | | 75 | | |
HP:0200101 | HP:0200101 | Decreased/absent ankle reflexes | 0 | PGM3 CL E G H | 5238 | 8907 | ORPHA:443811 | PGM3-CDG | HP:0040283 - Occasional | | | 15 | | |
HP:0200101 | HP:0200101 | Decreased/absent ankle reflexes | 0 | PLEKHG4 CL E G H | 25894 | 24501 | ORPHA:98765 | Spinocerebellar ataxia type 4 | | | | 4 | | |
HP:0200101 | HP:0200101 | Decreased/absent ankle reflexes | 0 | PMP2 CL E G H | 5375 | 9117 | OMIM:618279 | Charcot-Marie-Tooth disease, demyelinating, type 1G | | | | 1 | | |
HP:0200101 | HP:0200101 | Decreased/absent ankle reflexes | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | | | | 464 | | |
HP:0200101 | HP:0200101 | Decreased/absent ankle reflexes | 0 | POLG CL E G H | 5428 | 9179 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | | | | 464 | | |
HP:0200101 | HP:0200101 | Decreased/absent ankle reflexes | 0 | POLG2 CL E G H | 11232 | 9180 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | | | | 45 | | |
HP:0200101 | HP:0200101 | Decreased/absent ankle reflexes | 0 | RAB7A CL E G H | 7879 | 9788 | OMIM:600882 | Charcot-Marie-Tooth disease, axonal, type 2B | | | | 50 | | |
HP:0200101 | HP:0200101 | Decreased/absent ankle reflexes | 0 | RAI1 CL E G H | 10743 | 9834 | ORPHA:477817 | PMP22-RAI1 contiguous gene duplication syndrome | HP:0040282 - Frequent | | | 150 | | |
HP:0200101 | HP:0200101 | Decreased/absent ankle reflexes | 0 | REEP1 CL E G H | 65055 | 25786 | OMIM:620011 | | | | | 87 | | |
HP:0200101 | HP:0200101 | Decreased/absent ankle reflexes | 0 | RRM2B CL E G H | 50484 | 17296 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | | | | 125 | | |
HP:0200101 | HP:0200101 | Decreased/absent ankle reflexes | 0 | SACS CL E G H | 26278 | 10519 | ORPHA:98 | Autosomal recessive spastic ataxia of Charlevoix-Saguenay | | | | 309 | | |
HP:0200101 | HP:0200101 | Decreased/absent ankle reflexes | 0 | SACS CL E G H | 26278 | 10519 | OMIM:270550 | Spastic ataxia, Charlevoix-Saguenay type | | | | 309 | | |
HP:0200101 | HP:0200101 | Decreased/absent ankle reflexes | 0 | SLC25A4 CL E G H | 291 | 10990 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | | | | 68 | | |
HP:0200101 | HP:0200101 | Decreased/absent ankle reflexes | 0 | SMN1 CL E G H | 6606 | 11117 | OMIM:253400 | Spinal muscular atrophy, type III | | | | 22 | | |
HP:0200101 | HP:0200101 | Decreased/absent ankle reflexes | 0 | SMN2 CL E G H | 6607 | 11118 | OMIM:253400 | Spinal muscular atrophy, type III | | | | 1 | | |
HP:0200101 | HP:0200101 | Decreased/absent ankle reflexes | 0 | SQSTM1 CL E G H | 8878 | 11280 | OMIM:617158 | MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV | | | | 62 | | |
HP:0200101 | HP:0200101 | Decreased/absent ankle reflexes | 0 | TOR1A CL E G H | 1861 | 3098 | OMIM:128100 | Dystonia 1, torsion, autosomal dominant | | | | 47 | | |
HP:0200101 | HP:0200101 | Decreased/absent ankle reflexes | 0 | TWNK CL E G H | 56652 | 1160 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | | | | 113 | | |
HP:0200101 | HP:0200101 | Decreased/absent ankle reflexes | 0 | TWNK CL E G H | 56652 | 1160 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | | | | 113 | | |
HP:0200101 | HP:0200101 | Decreased/absent ankle reflexes | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:435387 | Autosomal dominant Charcot-Marie-Tooth disease type 2Y | | | | 63 | | |
HP:0200101 | HP:0200101 | Decreased/absent ankle reflexes | 0 | VPS13A CL E G H | 23230 | 1908 | ORPHA:2388 | Choreoacanthocytosis | | | | 130 | | |
HP:0200101 | HP:0200101 | Decreased/absent ankle reflexes | 0 | XK CL E G H | 7504 | 12811 | OMIM:300842 | Mcleod syndrome | | | | 8 | | |
HP:0200101 | HP:0003438 | Absent Achilles reflex | 1 | AARS1 CL E G H | 16 | 20 | OMIM:613287 | Charcot-Marie-Tooth disease, axonal, type 2N | | | | | | |
HP:0200101 | HP:0003438 | Absent Achilles reflex | 1 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:447757 | Autosomal dominant spastic paraplegia type 9B | HP:0040283 - Occasional | | | 89 | | |
HP:0200101 | HP:0003438 | Absent Achilles reflex | 1 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:447760 | Autosomal recessive spastic paraplegia type 9B | HP:0040283 - Occasional | | | 89 | | |
HP:0200101 | HP:0003438 | Absent Achilles reflex | 1 | ARL6IP1 CL E G H | 23204 | 697 | OMIM:615685 | Spastic paraplegia 61, autosomal recessive | . | | | 1 | | |
HP:0200101 | HP:0003438 | Absent Achilles reflex | 1 | ATP6AP2 CL E G H | 10159 | 18305 | ORPHA:93952 | X-linked intellectual disability, Hedera type | HP:0040283 - Occasional | | | 36 | | |
HP:0200101 | HP:0003438 | Absent Achilles reflex | 1 | ATXN3 CL E G H | 4287 | 7106 | OMIM:109150 | Machado-Joseph disease | . | | | 14 | | |
HP:0200101 | HP:0003438 | Absent Achilles reflex | 1 | C19ORF12 CL E G H | 83636 | 25443 | ORPHA:320370 | Autosomal recessive spastic paraplegia type 43 | HP:0040282 - Frequent | | | 114 | | |
HP:0200101 | HP:0003438 | Absent Achilles reflex | 1 | CADM3 CL E G H | 57863 | 17601 | OMIM:619519 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF | | | | 1 | | |
HP:0200101 | HP:0003438 | Absent Achilles reflex | 1 | DYSF CL E G H | 8291 | 3097 | ORPHA:178400 | Distal myopathy with anterior tibial onset | HP:0040283 - Occasional | | | 600 | | |
HP:0200101 | HP:0003438 | Absent Achilles reflex | 1 | GBE1 CL E G H | 2632 | 4180 | OMIM:263570 | Polyglucosan body neuropathy, adult form | | | | 86 | | |
HP:0200101 | HP:0003438 | Absent Achilles reflex | 1 | GJB1 CL E G H | 2705 | 4283 | OMIM:302800 | Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 | | | | 107 | | |
HP:0200101 | HP:0003438 | Absent Achilles reflex | 1 | GNE CL E G H | 10020 | 23657 | ORPHA:602 | GNE myopathy | HP:0040282 - Frequent | | | 173 | | |
HP:0200101 | HP:0003438 | Absent Achilles reflex | 1 | HARS1 CL E G H | 3035 | 4816 | ORPHA:488333 | Autosomal dominant Charcot-Marie-Tooth disease type 2W | HP:0040283 - Occasional | | | | | |
HP:0200101 | HP:0003438 | Absent Achilles reflex | 1 | HARS1 CL E G H | 3035 | 4816 | OMIM:616625 | Charcot-Marie-Tooth disease, axonal, type 2W | | | | | | |
HP:0200101 | HP:0003438 | Absent Achilles reflex | 1 | HINT1 CL E G H | 3094 | 4912 | ORPHA:324442 | Autosomal recessive axonal neuropathy with neuromyotonia | HP:0040282 - Frequent | | | 12 | | |
HP:0200101 | HP:0003438 | Absent Achilles reflex | 1 | HSPB3 CL E G H | 8988 | 5248 | OMIM:613376 | Neuronopathy, distal hereditary motor, type IIC | | | | 13 | | |
HP:0200101 | HP:0003438 | Absent Achilles reflex | 1 | KLC2 CL E G H | 64837 | 20716 | OMIM:609541 | Spastic paraplegia, optic atrophy, and neuropathy | | | | 1 | | |
HP:0200101 | HP:0003438 | Absent Achilles reflex | 1 | KLHL9 CL E G H | 55958 | 18732 | ORPHA:399081 | KLHL9-related early-onset distal myopathy | HP:0040283 - Occasional | | | 3 | | |
HP:0200101 | HP:0003438 | Absent Achilles reflex | 1 | MFN2 CL E G H | 9927 | 16877 | ORPHA:99947 | Autosomal dominant Charcot-Marie-Tooth disease type 2A2 | HP:0040281 - Very frequent | | | 203 | | |
HP:0200101 | HP:0003438 | Absent Achilles reflex | 1 | MORC2 CL E G H | 22880 | 23573 | OMIM:616688 | Charcot-Marie-Tooth disease, axonal, type 2Z | | | | 8 | | |
HP:0200101 | HP:0003438 | Absent Achilles reflex | 1 | MRE11 CL E G H | 4361 | 7230 | ORPHA:251347 | Ataxia-telangiectasia-like disorder | HP:0040282 - Frequent | | | 532 | | |
HP:0200101 | HP:0003438 | Absent Achilles reflex | 1 | MYOT CL E G H | 9499 | 12399 | OMIM:182920 | Myopathy, spheroid body | . | | | 75 | | |
HP:0200101 | HP:0003438 | Absent Achilles reflex | 1 | OPA1 CL E G H | 4976 | 8140 | ORPHA:1215 | Autosomal dominant optic atrophy plus syndrome | HP:0040283 - Occasional | | | 214 | | |
HP:0200101 | HP:0003438 | Absent Achilles reflex | 1 | OPA3 CL E G H | 80207 | 8142 | ORPHA:67036 | Autosomal dominant optic atrophy and cataract | HP:0040283 - Occasional | | | 163 | | |
HP:0200101 | HP:0003438 | Absent Achilles reflex | 1 | PDK3 CL E G H | 5165 | 8811 | ORPHA:352675 | X-linked Charcot-Marie-Tooth disease type 6 | HP:0040281 - Very frequent | | | 4 | | |
HP:0200101 | HP:0003438 | Absent Achilles reflex | 1 | PEX10 CL E G H | 5192 | 8851 | OMIM:614871 | Peroxisome biogenesis disorder 6B | | | | 75 | | |
HP:0200101 | HP:0003438 | Absent Achilles reflex | 1 | PLEKHG4 CL E G H | 25894 | 24501 | ORPHA:98765 | Spinocerebellar ataxia type 4 | HP:0040281 - Very frequent | | | 4 | | |
HP:0200101 | HP:0003438 | Absent Achilles reflex | 1 | PMP2 CL E G H | 5375 | 9117 | OMIM:618279 | Charcot-Marie-Tooth disease, demyelinating, type 1G | | | | 1 | | |
HP:0200101 | HP:0003438 | Absent Achilles reflex | 1 | POLG CL E G H | 5428 | 9179 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040284 - Very rare | | | 464 | | |
HP:0200101 | HP:0003438 | Absent Achilles reflex | 1 | POLG CL E G H | 5428 | 9179 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | | | | 464 | | |
HP:0200101 | HP:0003438 | Absent Achilles reflex | 1 | POLG2 CL E G H | 11232 | 9180 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040284 - Very rare | | | 45 | | |
HP:0200101 | HP:0003438 | Absent Achilles reflex | 1 | RAB7A CL E G H | 7879 | 9788 | OMIM:600882 | Charcot-Marie-Tooth disease, axonal, type 2B | | | | 50 | | |
HP:0200101 | HP:0003438 | Absent Achilles reflex | 1 | REEP1 CL E G H | 65055 | 25786 | OMIM:620011 | | | | | 87 | | |
HP:0200101 | HP:0003438 | Absent Achilles reflex | 1 | RRM2B CL E G H | 50484 | 17296 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040284 - Very rare | | | 125 | | |
HP:0200101 | HP:0003438 | Absent Achilles reflex | 1 | SACS CL E G H | 26278 | 10519 | ORPHA:98 | Autosomal recessive spastic ataxia of Charlevoix-Saguenay | HP:0040283 - Occasional | | | 309 | | |
HP:0200101 | HP:0003438 | Absent Achilles reflex | 1 | SACS CL E G H | 26278 | 10519 | OMIM:270550 | Spastic ataxia, Charlevoix-Saguenay type | | | | 309 | | |
HP:0200101 | HP:0003438 | Absent Achilles reflex | 1 | SLC25A4 CL E G H | 291 | 10990 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040284 - Very rare | | | 68 | | |
HP:0200101 | HP:0003438 | Absent Achilles reflex | 1 | SMN1 CL E G H | 6606 | 11117 | OMIM:253400 | Spinal muscular atrophy, type III | | | | 22 | | |
HP:0200101 | HP:0003438 | Absent Achilles reflex | 1 | SMN2 CL E G H | 6607 | 11118 | OMIM:253400 | Spinal muscular atrophy, type III | | | | 1 | | |
HP:0200101 | HP:0003438 | Absent Achilles reflex | 1 | SQSTM1 CL E G H | 8878 | 11280 | OMIM:617158 | MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV | | | | 62 | | |
HP:0200101 | HP:0003438 | Absent Achilles reflex | 1 | TOR1A CL E G H | 1861 | 3098 | OMIM:128100 | Dystonia 1, torsion, autosomal dominant | | | | 47 | | |
HP:0200101 | HP:0003438 | Absent Achilles reflex | 1 | TWNK CL E G H | 56652 | 1160 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040284 - Very rare | | | 113 | | |
HP:0200101 | HP:0003438 | Absent Achilles reflex | 1 | TWNK CL E G H | 56652 | 1160 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | | | | 113 | | |
HP:0200101 | HP:0003438 | Absent Achilles reflex | 1 | VCP CL E G H | 7415 | 12666 | ORPHA:435387 | Autosomal dominant Charcot-Marie-Tooth disease type 2Y | HP:0040282 - Frequent | | | 63 | | |
HP:0200101 | HP:0003438 | Absent Achilles reflex | 1 | VPS13A CL E G H | 23230 | 1908 | ORPHA:2388 | Choreoacanthocytosis | HP:0040282 - Frequent | | | 130 | | |
HP:0200101 | HP:0003438 | Absent Achilles reflex | 1 | XK CL E G H | 7504 | 12811 | OMIM:300842 | Mcleod syndrome | | | | 8 | | |