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:0003383 | HP:0003383 | Onion bulb formation | 0 | ARHGEF10 CL E G H | 9639 | 14103 | OMIM:608236 | Slowed nerve conduction velocity, autosomal dominant | . | | | 12 | | |
HP:0003383 | HP:0003383 | Onion bulb formation | 0 | COX6A1 CL E G H | 1337 | 2277 | OMIM:616039 | Charcot-Marie-Tooth disease, recessive intermediate D | . | | | 4 | | |
HP:0003383 | HP:0003383 | Onion bulb formation | 0 | DCAF8 CL E G H | 50717 | 24891 | OMIM:610100 | Giant axonal neuropathy, autosomal dominant | . | | | 2 | | |
HP:0003383 | HP:0003383 | Onion bulb formation | 0 | DNM2 CL E G H | 1785 | 2974 | OMIM:606482 | Charcot-Marie-Tooth disease, dominant intermediate B | . | | | 167 | | |
HP:0003383 | HP:0003383 | Onion bulb formation | 0 | EGR2 CL E G H | 1959 | 3239 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | . | | | 58 | | |
HP:0003383 | HP:0003383 | Onion bulb formation | 0 | EGR2 CL E G H | 1959 | 3239 | OMIM:605253 | Neuropathy, congenital hypomyelinating, 1, autosomal recessive | . | | | 58 | | |
HP:0003383 | HP:0003383 | Onion bulb formation | 0 | FGD4 CL E G H | 121512 | 19125 | OMIM:609311 | Charcot-marie-tooth disease, type 4H | | | | 158 | | |
HP:0003383 | HP:0003383 | Onion bulb formation | 0 | FIG4 CL E G H | 9896 | 16873 | OMIM:611228 | Charcot-Marie-Tooth disease, type 4J | . | | | 111 | | |
HP:0003383 | HP:0003383 | Onion bulb formation | 0 | GBF1 CL E G H | 8729 | 4181 | OMIM:606483 | Charcot-Marie-Tooth disease, dominant intermediate A | . | | | | | |
HP:0003383 | HP:0003383 | Onion bulb formation | 0 | GDAP1 CL E G H | 54332 | 15968 | OMIM:607706 | Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive | HP:0040283 - Occasional | | | 108 | | |
HP:0003383 | HP:0003383 | Onion bulb formation | 0 | GDAP1 CL E G H | 54332 | 15968 | OMIM:608340 | Charcot-Marie-Tooth disease, recessive intermediate A | . | | | 108 | | |
HP:0003383 | HP:0003383 | Onion bulb formation | 0 | GDAP1 CL E G H | 54332 | 15968 | OMIM:214400 | Charcot-Marie-Tooth disease, type 4A | | | | 108 | | |
HP:0003383 | HP:0003383 | Onion bulb formation | 0 | GJB1 CL E G H | 2705 | 4283 | OMIM:302800 | Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 | | | | 107 | | |
HP:0003383 | HP:0003383 | Onion bulb formation | 0 | GNB4 CL E G H | 59345 | 20731 | OMIM:615185 | Charcot-Marie-Tooth disease, dominant intermediate F | . | | | 12 | | |
HP:0003383 | HP:0003383 | Onion bulb formation | 0 | HYCC1 CL E G H | 84668 | 24587 | OMIM:610532 | Leukodystrophy, hypomyelinating, 5 | . | | | | | |
HP:0003383 | HP:0003383 | Onion bulb formation | 0 | INF2 CL E G H | 64423 | 23791 | OMIM:614455 | Charcot-Marie-Tooth disease, dominant intermediate E | . | | | 135 | | |
HP:0003383 | HP:0003383 | Onion bulb formation | 0 | KIF1B CL E G H | 23095 | 16636 | OMIM:118210 | Charcot-Marie-Tooth disease, axonal, type 2A1 | . | | | 202 | | |
HP:0003383 | HP:0003383 | Onion bulb formation | 0 | LITAF CL E G H | 9516 | 16841 | OMIM:601098 | Charcot-Marie-Tooth disease, demyelinating, type 1C | . | | | 74 | | |
HP:0003383 | HP:0003383 | Onion bulb formation | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:605588 | Charcot-Marie-Tooth disease, axonal, type 2B1 | . | | | 645 | | |
HP:0003383 | HP:0003383 | Onion bulb formation | 0 | MFN2 CL E G H | 9927 | 16877 | OMIM:609260 | Charcot-marie-tooth disease, axonal, type 2A2A | . | | | 203 | | |
HP:0003383 | HP:0003383 | Onion bulb formation | 0 | MPZ CL E G H | 4359 | 7225 | OMIM:118200 | Charcot-Marie-Tooth disease, demyelinating, type 1B | . | | | 134 | | |
HP:0003383 | HP:0003383 | Onion bulb formation | 0 | MPZ CL E G H | 4359 | 7225 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | . | | | 134 | | |
HP:0003383 | HP:0003383 | Onion bulb formation | 0 | MPZ CL E G H | 4359 | 7225 | OMIM:618184 | Neuropathy, congenital hypomyelinating, 2 | | | | 134 | | |
HP:0003383 | HP:0003383 | Onion bulb formation | 0 | MPZ CL E G H | 4359 | 7225 | OMIM:180800 | Roussy-Levy hereditary areflexic dystasia | . | | | 134 | | |
HP:0003383 | HP:0003383 | Onion bulb formation | 0 | MTRFR CL E G H | 91574 | 26784 | ORPHA:320375 | Autosomal recessive spastic paraplegia type 55 | HP:0040282 - Frequent | | | | | |
HP:0003383 | HP:0003383 | Onion bulb formation | 0 | MTRFR CL E G H | 91574 | 26784 | OMIM:615035 | Spastic paraplegia 55, autosomal recessive | . | | | | | |
HP:0003383 | HP:0003383 | Onion bulb formation | 0 | NDRG1 CL E G H | 10397 | 7679 | OMIM:601455 | Charcot-Marie-Tooth disease, type 4D | . | | | 82 | | |
HP:0003383 | HP:0003383 | Onion bulb formation | 0 | NEFL CL E G H | 4747 | 7739 | OMIM:607684 | Charcot-Marie-Tooth disease, axonal, type 2E | | | | 118 | | |
HP:0003383 | HP:0003383 | Onion bulb formation | 0 | NEFL CL E G H | 4747 | 7739 | OMIM:607734 | Charcot-Marie-Tooth disease, demyelinating, type 1F | . | | | 118 | | |
HP:0003383 | HP:0003383 | Onion bulb formation | 0 | PMP2 CL E G H | 5375 | 9117 | OMIM:618279 | Charcot-Marie-Tooth disease, demyelinating, type 1G | . | | | 1 | | |
HP:0003383 | HP:0003383 | Onion bulb formation | 0 | PMP22 CL E G H | 5376 | 9118 | ORPHA:98916 | Acute inflammatory demyelinating polyradiculoneuropathy | HP:0040283 - Occasional | | | 79 | | |
HP:0003383 | HP:0003383 | Onion bulb formation | 0 | PMP22 CL E G H | 5376 | 9118 | OMIM:118220 | Charcot-Marie-Tooth disease, demyelinating, type 1A | . | | | 79 | | |
HP:0003383 | HP:0003383 | Onion bulb formation | 0 | PMP22 CL E G H | 5376 | 9118 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | . | | | 79 | | |
HP:0003383 | HP:0003383 | Onion bulb formation | 0 | PMP22 CL E G H | 5376 | 9118 | OMIM:180800 | Roussy-Levy hereditary areflexic dystasia | . | | | 79 | | |
HP:0003383 | HP:0003383 | Onion bulb formation | 0 | PRPS1 CL E G H | 5631 | 9462 | OMIM:311070 | Charcot-Marie-Tooth disease, X-linked recessive, 5 | | | | 49 | | |
HP:0003383 | HP:0003383 | Onion bulb formation | 0 | PRX CL E G H | 57716 | 13797 | OMIM:614895 | Charcot-Marie-Tooth disease, demyelinating, type 4F | | | | 170 | | |
HP:0003383 | HP:0003383 | Onion bulb formation | 0 | PRX CL E G H | 57716 | 13797 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | . | | | 170 | | |
HP:0003383 | HP:0003383 | Onion bulb formation | 0 | SACS CL E G H | 26278 | 10519 | OMIM:270550 | Spastic ataxia, Charlevoix-Saguenay type | | | | 309 | | |
HP:0003383 | HP:0003383 | Onion bulb formation | 0 | SBF1 CL E G H | 6305 | 10542 | OMIM:615284 | Charcot-Marie-Tooth disease, type 4B3 | . | | | 16 | | |
HP:0003383 | HP:0003383 | Onion bulb formation | 0 | SBF2 CL E G H | 81846 | 2135 | OMIM:604563 | Charcot-Marie-Tooth disease, type 4B2 | . | | | 180 | | |
HP:0003383 | HP:0003383 | Onion bulb formation | 0 | SH3TC2 CL E G H | 79628 | 29427 | OMIM:601596 | Charcot-Marie-Tooth disease, type 4C | | | | 493 | | |
HP:0003383 | HP:0003383 | Onion bulb formation | 0 | SLC12A6 CL E G H | 9990 | 10914 | OMIM:218000 | Agenesis of the corpus callosum with peripheral neuropathy | . | | | 163 | | |
HP:0003383 | HP:0003400 | Basal lamina onion bulb formation | 1 | GDAP1 CL E G H | 54332 | 15968 | OMIM:214400 | Charcot-Marie-Tooth disease, type 4A | . | | | 108 | | |
HP:0003383 | HP:0003400 | Basal lamina onion bulb formation | 1 | PRX CL E G H | 57716 | 13797 | OMIM:614895 | Charcot-Marie-Tooth disease, demyelinating, type 4F | . | | | 170 | | |
HP:0003383 | HP:0003400 | Basal lamina onion bulb formation | 1 | SH3TC2 CL E G H | 79628 | 29427 | OMIM:601596 | Charcot-Marie-Tooth disease, type 4C | . | | | 493 | | |