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:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | ABCD1 CL E G H | 215 | 61 | OMIM:300100 | Adrenoleukodystrophy | | | | 135 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | ABCD1 CL E G H | 215 | 61 | ORPHA:139399 | Adrenomyeloneuropathy | | | | 135 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | ACSF3 CL E G H | 197322 | 27288 | ORPHA:289504 | Combined malonic and methylmalonic acidemia | | | | 68 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | ADNP CL E G H | 23394 | 15766 | ORPHA:404448 | ADNP syndrome | | | | 47 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:2495 | Meningioma | | | | 54 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:447753 | Autosomal dominant spastic paraplegia type 9A | | | | 89 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:447760 | Autosomal recessive spastic paraplegia type 9B | | | | 89 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | ALDH18A1 CL E G H | 5832 | 9722 | OMIM:601162 | Spastic paraplegia 9A, autosomal dominant | | | | 89 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | ALDH18A1 CL E G H | 5832 | 9722 | OMIM:616586 | Spastic paraplegia 9B, autosomal recessive | | | | 89 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | ALMS1 CL E G H | 7840 | 428 | ORPHA:64 | Alström syndrome | | | | 404 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | ALS2 CL E G H | 57679 | 443 | OMIM:205100 | Amyotrophic lateral sclerosis 2, juvenile | | | | 114 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | ALS2 CL E G H | 57679 | 443 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | | | | 114 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | ALS2 CL E G H | 57679 | 443 | OMIM:607225 | Spastic paralysis, infantile-onset ascending | | | | 114 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | AP5Z1 CL E G H | 9907 | 22197 | ORPHA:306511 | Autosomal recessive spastic paraplegia type 48 | | | | 165 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | AP5Z1 CL E G H | 9907 | 22197 | OMIM:613647 | Spastic paraplegia 48, autosomal recessive | | | | 165 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | ARSA CL E G H | 410 | 713 | OMIM:250100 | Metachromatic leukodystrophy | | | | 253 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | ARSA CL E G H | 410 | 713 | ORPHA:309271 | Metachromatic leukodystrophy, adult form | | | | 253 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | ARSA CL E G H | 410 | 713 | ORPHA:309263 | Metachromatic leukodystrophy, juvenile form | | | | 253 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | ARSA CL E G H | 410 | 713 | ORPHA:309256 | Metachromatic leukodystrophy, late infantile form | | | | 253 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 1 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | ARX CL E G H | 170302 | 18060 | OMIM:300419 | Mental retardation, X-linked, with or without seizures, arx-related | | | | 166 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | ATL1 CL E G H | 51062 | 11231 | ORPHA:36386 | Hereditary sensory and autonomic neuropathy type 1 | | | | 71 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | ATL1 CL E G H | 51062 | 11231 | OMIM:182600 | Spastic paraplegia 3, autosomal dominant | | | | 71 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | ATL3 CL E G H | 25923 | 24526 | ORPHA:36386 | Hereditary sensory and autonomic neuropathy type 1 | | | | 5 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | ATP13A2 CL E G H | 23400 | 30213 | ORPHA:306674 | Kufor-Rakeb syndrome | | | | 100 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | ATXN10 CL E G H | 25814 | 10549 | OMIM:603516 | Spinocerebellar ataxia 10 | | | | 9 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | ATXN2 CL E G H | 6311 | 10555 | OMIM:183090 | Spinocerebellar ataxia 2 | | | | 11 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | ATXN8 CL E G H | 724066 | 32925 | ORPHA:98760 | Spinocerebellar ataxia type 8 | | | | 1 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | ATXN8OS CL E G H | 6315 | 10561 | ORPHA:98760 | Spinocerebellar ataxia type 8 | | | | 1 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | AUH CL E G H | 549 | 890 | OMIM:250950 | 3-methylglutaconic aciduria, type I | | | | 49 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | BAP1 CL E G H | 8314 | 950 | ORPHA:2495 | Meningioma | | | | 184 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | BCR CL E G H | 613 | 1014 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | | | | 5 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | BIN1 CL E G H | 274 | 1052 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 99 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | BNC2 CL E G H | 54796 | 30988 | OMIM:618612 | LOWER URINARY TRACT OBSTRUCTION, CONGENITAL; LUTO | | | | 22 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | BNC2 CL E G H | 54796 | 30988 | ORPHA:93110 | Posterior urethral valve | | | | 22 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | C19ORF12 CL E G H | 83636 | 25443 | ORPHA:289560 | Mitochondrial membrane protein-associated neurodegeneration | | | | 114 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | CABP4 CL E G H | 57010 | 1386 | ORPHA:98784 | Autosomal dominant nocturnal frontal lobe epilepsy | | | | 94 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | CACNA1G CL E G H | 8913 | 1394 | OMIM:616795 | Spinocerebellar ataxia 42 | | | | 32 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | CACNA1G CL E G H | 8913 | 1394 | ORPHA:458803 | Spinocerebellar ataxia type 42 | | | | 32 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | CACNA1H CL E G H | 8912 | 1395 | ORPHA:64280 | Childhood absence epilepsy | | | | 75 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | CAPN1 CL E G H | 823 | 1476 | OMIM:616907 | SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG76 | | | | 4 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | CCL2 CL E G H | 6347 | 10618 | OMIM:182940 | Neural tube defects, susceptibility to | | | | 3 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | CDKN1A CL E G H | 1026 | 1784 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040281 - Very frequent | | | 2 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040281 - Very frequent | | | 102 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | CDKN2B CL E G H | 1030 | 1788 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040281 - Very frequent | | | 1 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | CDKN2C CL E G H | 1031 | 1789 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040281 - Very frequent | | | | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | CFAP43 CL E G H | 80217 | 26684 | OMIM:236690 | Hydrocephalus, normal pressure, 1 | | | | 6 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | CHMP2B CL E G H | 25978 | 24537 | OMIM:600795 | Frontotemporal dementia and/or amytrophic lateral sclerosis 7 | | | | 42 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | CHRNA2 CL E G H | 1135 | 1956 | ORPHA:98784 | Autosomal dominant nocturnal frontal lobe epilepsy | | | | 188 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | CHRNA4 CL E G H | 1137 | 1958 | ORPHA:98784 | Autosomal dominant nocturnal frontal lobe epilepsy | | | | 225 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | CHRNB2 CL E G H | 1141 | 1962 | ORPHA:98784 | Autosomal dominant nocturnal frontal lobe epilepsy | | | | 88 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | CLCNKB CL E G H | 1188 | 2027 | ORPHA:358 | Gitelman syndrome | | | | 27 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | COG5 CL E G H | 10466 | 14857 | ORPHA:263487 | COG5-CDG | | | | 79 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:86820 | Familial avascular necrosis of femoral head | HP:0040282 - Frequent | | | 284 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 6 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | COPB1 CL E G H | 1315 | 2231 | OMIM:619255 | BARALLE-MACKEN SYNDROME; BARMACS | | | | | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | COQ2 CL E G H | 27235 | 25223 | OMIM:146500 | Multiple system atrophy 1, susceptibility to | | | | 54 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | CPT1C CL E G H | 126129 | 18540 | ORPHA:444099 | Autosomal dominant spastic paraplegia type 73 | | | | 1 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | CRH CL E G H | 1392 | 2355 | ORPHA:98784 | Autosomal dominant nocturnal frontal lobe epilepsy | | | | 1 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | CRKL CL E G H | 1399 | 2363 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | | | | | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | CYP7B1 CL E G H | 9420 | 2652 | OMIM:270800 | Spastic paraplegia 5A, autosomal recessive | | | | 57 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | DACT1 CL E G H | 51339 | 17748 | ORPHA:857 | Townes-Brocks syndrome | | | | 2 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | DDHD2 CL E G H | 23259 | 29106 | OMIM:615033 | Spastic paraplegia 54, autosomal recessive | | | | 29 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | DEPDC5 CL E G H | 9681 | 18423 | ORPHA:98784 | Autosomal dominant nocturnal frontal lobe epilepsy | | | | 172 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | DKK1 CL E G H | 22943 | 2891 | ORPHA:268882 | Arnold-Chiari malformation type I | | | | | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | DMPK CL E G H | 1760 | 2933 | ORPHA:589821 | Congenital-onset Steinert myotonic dystrophy | | | | 152 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | DNM2 CL E G H | 1785 | 2974 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 167 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | DNMT1 CL E G H | 1786 | 2976 | ORPHA:314404 | Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome | | | | 145 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | DPH5 CL E G H | 51611 | 24270 | OMIM:620070 | | | | | | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | DPYSL5 CL E G H | 56896 | 20637 | OMIM:619435 | RITSCHER-SCHINZEL SYNDROME 4; RTSC4 | | | | | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | DSTYK CL E G H | 25778 | 29043 | ORPHA:101003 | Autosomal recessive spastic paraplegia type 23 | | | | 13 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | EIF2AK2 CL E G H | 5610 | 9437 | OMIM:618877 | LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN | | | | | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | FA2H CL E G H | 79152 | 21197 | ORPHA:171629 | Autosomal recessive spastic paraplegia type 35 | | | | 76 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | FA2H CL E G H | 79152 | 21197 | OMIM:612319 | Spastic paraplegia 35, autosomal recessive | | | | 76 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | FAR1 CL E G H | 84188 | 26222 | ORPHA:447753 | Autosomal dominant spastic paraplegia type 9A | | | | 7 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | FARS2 CL E G H | 10667 | 21062 | ORPHA:466722 | Autosomal recessive spastic paraplegia type 77 | | | | 36 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | FITM2 CL E G H | 128486 | 16135 | OMIM:618635 | SIDDIQI SYNDROME; SIDDIS | | | | | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | FLVCR1 CL E G H | 28982 | 24682 | OMIM:609033 | Ataxia, posterior column, with retinitis pigmentosa | | | | 111 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | FLVCR1 CL E G H | 28982 | 24682 | ORPHA:88628 | Posterior column ataxia-retinitis pigmentosa syndrome | | | | 111 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | FMR1 CL E G H | 2332 | 3775 | OMIM:300623 | Fragile X tremor/ataxia syndrome | | | | 30 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | FMR1 CL E G H | 2332 | 3775 | ORPHA:93256 | Fragile X-associated tremor/ataxia syndrome | | | | 30 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | FRMD5 CL E G H | 84978 | 28214 | OMIM:620094 | | | | | | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | FUS CL E G H | 2521 | 4010 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | | | | 105 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | FUZ CL E G H | 80199 | 26219 | ORPHA:3027 | Caudal regression sequence | | | | 3 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | FUZ CL E G H | 80199 | 26219 | OMIM:182940 | Neural tube defects, susceptibility to | | | | 3 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | GAA CL E G H | 2548 | 4065 | OMIM:232300 | Glycogen storage disease II | | | | 407 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | GABRA1 CL E G H | 2554 | 4075 | ORPHA:64280 | Childhood absence epilepsy | | | | 134 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | GABRB3 CL E G H | 2562 | 4083 | ORPHA:64280 | Childhood absence epilepsy | | | | 57 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:64280 | Childhood absence epilepsy | | | | 139 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | GALC CL E G H | 2581 | 4115 | ORPHA:206448 | Adult Krabbe disease | | | | 160 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | GALNT2 CL E G H | 2590 | 4124 | OMIM:618885 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T | | | | | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | GBA2 CL E G H | 57704 | 18986 | ORPHA:352641 | Autosomal recessive cerebellar ataxia with late-onset spasticity | | | | 30 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | GBA2 CL E G H | 57704 | 18986 | ORPHA:320391 | Autosomal recessive spastic paraplegia type 46 | | | | 30 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | GBA2 CL E G H | 57704 | 18986 | OMIM:614409 | Spastic paraplegia 46, autosomal recessive | | | | 30 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | GBE1 CL E G H | 2632 | 4180 | ORPHA:206583 | Adult polyglucosan body disease | | | | 86 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | GBE1 CL E G H | 2632 | 4180 | OMIM:263570 | Polyglucosan body neuropathy, adult form | | | | 86 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | GJC2 CL E G H | 57165 | 17494 | OMIM:613206 | Spastic paraplegia 44, autosomal recessive | | | | 37 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 8 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | HACE1 CL E G H | 57531 | 21033 | ORPHA:464282 | Spastic paraplegia-severe developmental delay-epilepsy syndrome | | | | 10 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | HEXB CL E G H | 3074 | 4879 | OMIM:268800 | Sandhoff disease | | | | 80 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | HEXB CL E G H | 3074 | 4879 | ORPHA:309162 | Sandhoff disease, juvenile form | | | | 80 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 3 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | HLA-DQB1 CL E G H | 3119 | 4944 | OMIM:126200 | Multiple sclerosis, susceptibility to | | | | | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | OMIM:126200 | Multiple sclerosis, susceptibility to | | | | 2 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | HMBS CL E G H | 3145 | 4982 | ORPHA:79276 | Acute intermittent porphyria | | | | 81 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | HMBS CL E G H | 3145 | 4982 | OMIM:176000 | Porphyria, acute intermittent | | | | 81 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | HPSE2 CL E G H | 60495 | 18374 | ORPHA:2704 | Ochoa syndrome | | | | 9 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | HS6ST2 CL E G H | 90161 | 19133 | OMIM:301025 | Paganini-Miozzo syndrome | | | | | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | HSPD1 CL E G H | 3329 | 5261 | ORPHA:100994 | Autosomal dominant spastic paraplegia type 13 | | | | 46 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | HSPD1 CL E G H | 3329 | 5261 | OMIM:605280 | Spastic paraplegia 13, autosomal dominant | | | | 46 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | HTRA1 CL E G H | 5654 | 9476 | OMIM:600142 | Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) | | | | 34 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | IFT57 CL E G H | 55081 | 17367 | OMIM:617927 | Orofaciodigital syndrome XVIII | | | | | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | IGHMBP2 CL E G H | 3508 | 5542 | OMIM:604320 | Spinal muscular atrophy, distal, autosomal recessive, 1 | | | | 209 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | ISL1 CL E G H | 3670 | 6132 | ORPHA:93930 | Bladder exstrophy | | | | 2 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 2 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | JRK CL E G H | 8629 | 6199 | ORPHA:64280 | Childhood absence epilepsy | | | | | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | KCNC3 CL E G H | 3748 | 6235 | ORPHA:98768 | Spinocerebellar ataxia type 13 | | | | 17 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | KCND3 CL E G H | 3752 | 6239 | ORPHA:98772 | Spinocerebellar ataxia type 19/22 | | | | 35 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | KCNT1 CL E G H | 57582 | 18865 | ORPHA:98784 | Autosomal dominant nocturnal frontal lobe epilepsy | | | | 321 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | KIF5A CL E G H | 3798 | 6323 | OMIM:604187 | Spastic paraplegia 10, autosomal dominant | | | | 93 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | KMT2B CL E G H | 9757 | 15840 | OMIM:619934 | | | | | 11 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | KY CL E G H | 339855 | 26576 | OMIM:617114 | MYOPATHY, MYOFIBRILLAR, 7; MFM7 | | | | 3 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | LMNB1 CL E G H | 4001 | 6637 | OMIM:169500 | Leukodystrophy, adult-onset, autosomal dominant | | | | 44 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | LRIG2 CL E G H | 9860 | 20889 | ORPHA:2704 | Ochoa syndrome | | | | 5 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | MAPK1 CL E G H | 5594 | 6871 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | | | | 2 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | MAPK8IP3 CL E G H | 23162 | 6884 | OMIM:618443 | Neurodevelopmental disorder with or without variable brain abnormalities | | | | | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040281 - Very frequent | | | 462 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | MNX1 CL E G H | 3110 | 4979 | OMIM:176450 | Currarino syndrome | | | | 17 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | MORC2 CL E G H | 22880 | 23573 | ORPHA:466768 | Autosomal dominant Charcot-Marie-Tooth disease type 2Z | | | | 8 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | MORC2 CL E G H | 22880 | 23573 | OMIM:616688 | Charcot-Marie-Tooth disease, axonal, type 2Z | | | | 8 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | MTMR14 CL E G H | 64419 | 26190 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 7 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | MYF6 CL E G H | 4618 | 7566 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 19 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | MYO1H CL E G H | 283446 | 13879 | OMIM:619482 | CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2 | | | | | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | NEFL CL E G H | 4747 | 7739 | ORPHA:101085 | Charcot-Marie-Tooth disease type 1F | | | | 118 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | NEXMIF CL E G H | 340533 | 29433 | OMIM:300912 | Mental retardation, X-linked 98 | | | | 52 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | NF2 CL E G H | 4771 | 7773 | ORPHA:2495 | Meningioma | | | | 220 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | NIPA1 CL E G H | 123606 | 17043 | ORPHA:100988 | Autosomal dominant spastic paraplegia type 6 | | | | 117 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | NIPA1 CL E G H | 123606 | 17043 | OMIM:600363 | Spastic paraplegia 6, autosomal dominant | | | | 117 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | NOP56 CL E G H | 10528 | 15911 | ORPHA:276198 | Spinocerebellar ataxia type 36 | | | | 9 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | NOTCH2NLC CL E G H | 100996717 | 53924 | OMIM:603472 | NEURONAL INTRANUCLEAR INCLUSION DISEASE | | | | | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | NOTCH3 CL E G H | 4854 | 7883 | OMIM:125310 | Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy | | | | 144 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | NOTCH3 CL E G H | 4854 | 7883 | ORPHA:136 | Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy | | | | 144 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | PANK2 CL E G H | 80025 | 15894 | OMIM:234200 | Neurodegeneration with brain iron accumulation 1 | | | | 55 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | PDCD1 CL E G H | 5133 | 8760 | OMIM:126200 | Multiple sclerosis, susceptibility to | | | | 1 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | PDGFB CL E G H | 5155 | 8800 | OMIM:213600 | Basal ganglia calcification, idiopathic, 1 | | | | 9 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | PDGFB CL E G H | 5155 | 8800 | ORPHA:2495 | Meningioma | | | | 9 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | PDGFRB CL E G H | 5159 | 8804 | OMIM:213600 | Basal ganglia calcification, idiopathic, 1 | | | | 28 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | PEX11B CL E G H | 8799 | 8853 | OMIM:614920 | Peroxisome biogenesis disorder 14B | | | | 4 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | PIGF CL E G H | 5281 | 8962 | OMIM:619356 | ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS | | | | | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:2495 | Meningioma | | | | 162 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | PLP1 CL E G H | 5354 | 9086 | ORPHA:99015 | Spastic paraplegia type 2 | | | | 60 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | POLR3B CL E G H | 55703 | 30348 | OMIM:619742 | CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I | | | | 67 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | PRDM8 CL E G H | 56978 | 13993 | OMIM:616640 | Epilepsy, progressive myoclonic, 10 | | | | 1 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | PSAP CL E G H | 5660 | 9498 | OMIM:249900 | Metachromatic leukodystrophy due to saposin B deficiency | | | | 81 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | PSAP CL E G H | 5660 | 9498 | ORPHA:309271 | Metachromatic leukodystrophy, adult form | | | | 81 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | PSAP CL E G H | 5660 | 9498 | ORPHA:309263 | Metachromatic leukodystrophy, juvenile form | | | | 81 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | PSAP CL E G H | 5660 | 9498 | ORPHA:309256 | Metachromatic leukodystrophy, late infantile form | | | | 81 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | RETREG1 CL E G H | 54463 | 25964 | OMIM:613115 | Neuropathy, hereditary sensory and autonomic, type IIB | | | | 54 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | RNF170 CL E G H | 81790 | 25358 | OMIM:619686 | SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG85 | | | | 3 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | RSRC1 CL E G H | 51319 | 24152 | OMIM:618402 | Intellectual developmental disorder, autosomal recessive 70 | | | | 2 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | RTN2 CL E G H | 6253 | 10468 | ORPHA:100993 | Autosomal dominant spastic paraplegia type 12 | | | | 25 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | RTN2 CL E G H | 6253 | 10468 | OMIM:604805 | Spastic paraplegia 12, autosomal dominant | | | | 25 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 1200 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | SACS CL E G H | 26278 | 10519 | ORPHA:98 | Autosomal recessive spastic ataxia of Charlevoix-Saguenay | | | | 309 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | SALL1 CL E G H | 6299 | 10524 | ORPHA:857 | Townes-Brocks syndrome | | | | 124 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | SBF1 CL E G H | 6305 | 10542 | OMIM:615284 | Charcot-Marie-Tooth disease, type 4B3 | | | | 16 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | SCN4A CL E G H | 6329 | 10591 | ORPHA:682 | Hyperkalemic periodic paralysis | | | | 263 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | SCN9A CL E G H | 6335 | 10597 | OMIM:243000 | Indifference to pain, congenital, autosomal recessive | | | | 318 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | SIGMAR1 CL E G H | 10280 | 8157 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | | | | 6 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | SLC12A3 CL E G H | 6559 | 10912 | ORPHA:358 | Gitelman syndrome | | | | 145 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | SLC1A4 CL E G H | 6509 | 10942 | ORPHA:447997 | Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome | | | | 4 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | SLC20A2 CL E G H | 6575 | 10947 | OMIM:213600 | Basal ganglia calcification, idiopathic, 1 | | | | 70 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | SLC2A1 CL E G H | 6513 | 11005 | ORPHA:64280 | Childhood absence epilepsy | | | | 255 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | SLC44A1 CL E G H | 23446 | 18798 | OMIM:618868 | NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC | | | | 1 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | SLC9A6 CL E G H | 10479 | 11079 | OMIM:300243 | Mental retardation, x-linked syndromic, Christianson type | | | | 93 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:2495 | Meningioma | | | | 87 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:2495 | Meningioma | | | | 47 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | SMO CL E G H | 6608 | 11119 | ORPHA:2495 | Meningioma | | | | 22 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | SPAST CL E G H | 6683 | 11233 | OMIM:182601 | Spastic paraplegia 4, autosomal dominant | | | | 208 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | SPG11 CL E G H | 80208 | 11226 | OMIM:602099 | Amyotrophic lateral sclerosis 5, juvenile | | | | 287 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | SPG11 CL E G H | 80208 | 11226 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | | | | 287 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | SPG11 CL E G H | 80208 | 11226 | OMIM:604360 | Spastic paraplegia 11, autosomal recessive | | | | 287 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | SPG7 CL E G H | 6687 | 11237 | OMIM:607259 | Spastic paraplegia 7, autosomal recessive | | | | 171 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | SPTLC1 CL E G H | 10558 | 11277 | ORPHA:36386 | Hereditary sensory and autonomic neuropathy type 1 | | | | 54 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | SPTLC1 CL E G H | 10558 | 11277 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | | | | 54 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | SPTLC2 CL E G H | 9517 | 11278 | ORPHA:36386 | Hereditary sensory and autonomic neuropathy type 1 | | | | 149 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | SQSTM1 CL E G H | 8878 | 11280 | OMIM:617145 | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | | | | 62 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | STUB1 CL E G H | 10273 | 11427 | OMIM:618093 | SPINOCEREBELLAR ATAXIA 48; SCA48 | | | | 14 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | SUFU CL E G H | 51684 | 16466 | ORPHA:2495 | Meningioma | | | | 124 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:88644 | Autosomal recessive ataxia, Beauce type | | | | 1129 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | TBCD CL E G H | 6904 | 11581 | ORPHA:496641 | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | | | | 16 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | TBCD CL E G H | 6904 | 11581 | OMIM:617193 | ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT | | | | 16 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | TBP CL E G H | 6908 | 11588 | OMIM:607136 | Spinocerebellar ataxia 17 | | | | 7 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 32 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | TBXT CL E G H | 6862 | 11515 | OMIM:182940 | Neural tube defects, susceptibility to | | | | | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:2495 | Meningioma | | | | 238 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | TIMM50 CL E G H | 92609 | 23656 | ORPHA:505216 | 3-methylglutaconic aciduria type 9 | | | | 1 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | TIMM50 CL E G H | 92609 | 23656 | OMIM:617698 | 3-methylglutaconic aciduria, type IX | | | | 1 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | TP63 CL E G H | 8626 | 15979 | ORPHA:93930 | Bladder exstrophy | | | | 140 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | TRAF7 CL E G H | 84231 | 20456 | ORPHA:2495 | Meningioma | | | | | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | TRIO CL E G H | 7204 | 12303 | ORPHA:476126 | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | | | | 8 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | TRPV4 CL E G H | 59341 | 18083 | ORPHA:86820 | Familial avascular necrosis of femoral head | HP:0040282 - Frequent | | | 214 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:606071 | Hereditary motor and sensory neuropathy, type IIC | | | | 214 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | TTR CL E G H | 7276 | 12405 | OMIM:105210 | Amyloidosis, hereditary, transthyretin-related | | | | 107 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | TYROBP CL E G H | 7305 | 12449 | OMIM:221770 | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | | | | 22 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | UBAP1 CL E G H | 51271 | 12461 | ORPHA:100993 | Autosomal dominant spastic paraplegia type 12 | | | | | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | VANGL1 CL E G H | 81839 | 15512 | ORPHA:3027 | Caudal regression sequence | | | | 111 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | VANGL1 CL E G H | 81839 | 15512 | OMIM:182940 | Neural tube defects, susceptibility to | | | | 111 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | VANGL2 CL E G H | 57216 | 15511 | OMIM:182940 | Neural tube defects, susceptibility to | | | | 2 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:329478 | Adult-onset distal myopathy due to VCP mutation | | | | 63 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | WASHC5 CL E G H | 9897 | 28984 | ORPHA:100989 | Autosomal dominant spastic paraplegia type 8 | | | | 83 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | WASHC5 CL E G H | 9897 | 28984 | OMIM:603563 | Spastic paraplegia 8, autosomal dominant | | | | 83 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | ZC4H2 CL E G H | 55906 | 24931 | OMIM:301041 | WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR | | | | 19 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261552 | Mowat-Wilson syndrome due to a ZEB2 point mutation | | | | 362 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261537 | Mowat-Wilson syndrome due to monosomy 2q22 | | | | 362 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | ZFYVE26 CL E G H | 23503 | 20761 | OMIM:270700 | Spastic paraplegia 15, autosomal recessive | | | | 189 | | |
HP:0031058 | HP:0031058 | Impairment of activities of daily living | 0 | ZMYM2 CL E G H | 7750 | 12989 | OMIM:619522 | NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC | | | | | | |
HP:0031058 | HP:0031063 | Impaired feeding ability | 1 | CL E G H | | | | | | | | | | |
HP:0031058 | HP:0031062 | Impaired transferring ability | 1 | CL E G H | | | | | | | | | | |
HP:0031058 | HP:0031059 | Impaired ability to bathe oneself | 1 | CL E G H | | | | | | | | | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | ABCD1 CL E G H | 215 | 61 | OMIM:300100 | Adrenoleukodystrophy | | | | 135 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | ABCD1 CL E G H | 215 | 61 | ORPHA:139399 | Adrenomyeloneuropathy | HP:0040281 - Very frequent | | | 135 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | ACSF3 CL E G H | 197322 | 27288 | ORPHA:289504 | Combined malonic and methylmalonic acidemia | HP:0040283 - Occasional | | | 68 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | ADNP CL E G H | 23394 | 15766 | ORPHA:404448 | ADNP syndrome | | | | 47 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | AKT1 CL E G H | 207 | 391 | ORPHA:2495 | Meningioma | | | | 54 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:447753 | Autosomal dominant spastic paraplegia type 9A | | | | 89 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:447760 | Autosomal recessive spastic paraplegia type 9B | HP:0040282 - Frequent | | | 89 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | ALDH18A1 CL E G H | 5832 | 9722 | OMIM:601162 | Spastic paraplegia 9A, autosomal dominant | | | | 89 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | ALDH18A1 CL E G H | 5832 | 9722 | OMIM:616586 | Spastic paraplegia 9B, autosomal recessive | | | | 89 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | ALMS1 CL E G H | 7840 | 428 | ORPHA:64 | Alström syndrome | | | | 404 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | ALS2 CL E G H | 57679 | 443 | OMIM:205100 | Amyotrophic lateral sclerosis 2, juvenile | | | | 114 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | ALS2 CL E G H | 57679 | 443 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | | | | 114 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | ALS2 CL E G H | 57679 | 443 | OMIM:607225 | Spastic paralysis, infantile-onset ascending | | | | 114 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | AP5Z1 CL E G H | 9907 | 22197 | ORPHA:306511 | Autosomal recessive spastic paraplegia type 48 | | | | 165 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | AP5Z1 CL E G H | 9907 | 22197 | OMIM:613647 | Spastic paraplegia 48, autosomal recessive | | | | 165 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | ARSA CL E G H | 410 | 713 | OMIM:250100 | Metachromatic leukodystrophy | | | | 253 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | ARSA CL E G H | 410 | 713 | ORPHA:309271 | Metachromatic leukodystrophy, adult form | | | | 253 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | ARSA CL E G H | 410 | 713 | ORPHA:309263 | Metachromatic leukodystrophy, juvenile form | | | | 253 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | ARSA CL E G H | 410 | 713 | ORPHA:309256 | Metachromatic leukodystrophy, late infantile form | | | | 253 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 1 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | ARX CL E G H | 170302 | 18060 | OMIM:300419 | Mental retardation, X-linked, with or without seizures, arx-related | | | | 166 | | |
HP:0031058 | HP:0031060 | Impaired ability to dress oneself | 1 | ATL1 CL E G H | 51062 | 11231 | ORPHA:36386 | Hereditary sensory and autonomic neuropathy type 1 | HP:0040281 - Very frequent | | | 71 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | ATL1 CL E G H | 51062 | 11231 | OMIM:182600 | Spastic paraplegia 3, autosomal dominant | | | | 71 | | |
HP:0031058 | HP:0031060 | Impaired ability to dress oneself | 1 | ATL3 CL E G H | 25923 | 24526 | ORPHA:36386 | Hereditary sensory and autonomic neuropathy type 1 | HP:0040281 - Very frequent | | | 5 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | ATP13A2 CL E G H | 23400 | 30213 | ORPHA:306674 | Kufor-Rakeb syndrome | | | | 100 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | ATXN10 CL E G H | 25814 | 10549 | OMIM:603516 | Spinocerebellar ataxia 10 | | | | 9 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | ATXN2 CL E G H | 6311 | 10555 | OMIM:183090 | Spinocerebellar ataxia 2 | | | | 11 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | ATXN8 CL E G H | 724066 | 32925 | ORPHA:98760 | Spinocerebellar ataxia type 8 | | | | 1 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | ATXN8OS CL E G H | 6315 | 10561 | ORPHA:98760 | Spinocerebellar ataxia type 8 | | | | 1 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | AUH CL E G H | 549 | 890 | OMIM:250950 | 3-methylglutaconic aciduria, type I | | | | 49 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | BAP1 CL E G H | 8314 | 950 | ORPHA:2495 | Meningioma | | | | 184 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | BCR CL E G H | 613 | 1014 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | | | | 5 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | BIN1 CL E G H | 274 | 1052 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 99 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | BNC2 CL E G H | 54796 | 30988 | OMIM:618612 | LOWER URINARY TRACT OBSTRUCTION, CONGENITAL; LUTO | | | | 22 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | BNC2 CL E G H | 54796 | 30988 | ORPHA:93110 | Posterior urethral valve | | | | 22 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | C19ORF12 CL E G H | 83636 | 25443 | ORPHA:289560 | Mitochondrial membrane protein-associated neurodegeneration | | | | 114 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | CABP4 CL E G H | 57010 | 1386 | ORPHA:98784 | Autosomal dominant nocturnal frontal lobe epilepsy | | | | 94 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | CACNA1G CL E G H | 8913 | 1394 | OMIM:616795 | Spinocerebellar ataxia 42 | | | | 32 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | CACNA1G CL E G H | 8913 | 1394 | ORPHA:458803 | Spinocerebellar ataxia type 42 | | | | 32 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | CACNA1H CL E G H | 8912 | 1395 | ORPHA:64280 | Childhood absence epilepsy | | | | 75 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | CAPN1 CL E G H | 823 | 1476 | OMIM:616907 | SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG76 | | | | 4 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | CCL2 CL E G H | 6347 | 10618 | OMIM:182940 | Neural tube defects, susceptibility to | | | | 3 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | CFAP43 CL E G H | 80217 | 26684 | OMIM:236690 | Hydrocephalus, normal pressure, 1 | | | | 6 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | CHMP2B CL E G H | 25978 | 24537 | OMIM:600795 | Frontotemporal dementia and/or amytrophic lateral sclerosis 7 | | | | 42 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | CHRNA2 CL E G H | 1135 | 1956 | ORPHA:98784 | Autosomal dominant nocturnal frontal lobe epilepsy | | | | 188 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | CHRNA4 CL E G H | 1137 | 1958 | ORPHA:98784 | Autosomal dominant nocturnal frontal lobe epilepsy | | | | 225 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | CHRNB2 CL E G H | 1141 | 1962 | ORPHA:98784 | Autosomal dominant nocturnal frontal lobe epilepsy | | | | 88 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | CLCNKB CL E G H | 1188 | 2027 | ORPHA:358 | Gitelman syndrome | | | | 27 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | COG5 CL E G H | 10466 | 14857 | ORPHA:263487 | COG5-CDG | | | | 79 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 6 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | COPB1 CL E G H | 1315 | 2231 | OMIM:619255 | BARALLE-MACKEN SYNDROME; BARMACS | | | | | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | COQ2 CL E G H | 27235 | 25223 | OMIM:146500 | Multiple system atrophy 1, susceptibility to | | | | 54 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | CPT1C CL E G H | 126129 | 18540 | ORPHA:444099 | Autosomal dominant spastic paraplegia type 73 | | | | 1 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | CRH CL E G H | 1392 | 2355 | ORPHA:98784 | Autosomal dominant nocturnal frontal lobe epilepsy | | | | 1 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | CRKL CL E G H | 1399 | 2363 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | | | | | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | CYP7B1 CL E G H | 9420 | 2652 | OMIM:270800 | Spastic paraplegia 5A, autosomal recessive | | | | 57 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | DACT1 CL E G H | 51339 | 17748 | ORPHA:857 | Townes-Brocks syndrome | | | | 2 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | DDHD2 CL E G H | 23259 | 29106 | OMIM:615033 | Spastic paraplegia 54, autosomal recessive | | | | 29 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | DEPDC5 CL E G H | 9681 | 18423 | ORPHA:98784 | Autosomal dominant nocturnal frontal lobe epilepsy | | | | 172 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | DKK1 CL E G H | 22943 | 2891 | ORPHA:268882 | Arnold-Chiari malformation type I | | | | | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | DMPK CL E G H | 1760 | 2933 | ORPHA:589821 | Congenital-onset Steinert myotonic dystrophy | | | | 152 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | DNM2 CL E G H | 1785 | 2974 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 167 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | DNMT1 CL E G H | 1786 | 2976 | ORPHA:314404 | Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome | | | | 145 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | DPH5 CL E G H | 51611 | 24270 | OMIM:620070 | | | | | | | |
HP:0031058 | HP:0031061 | Impaired toileting ability | 1 | DPYSL5 CL E G H | 56896 | 20637 | OMIM:619435 | RITSCHER-SCHINZEL SYNDROME 4; RTSC4 | | | | | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | DSTYK CL E G H | 25778 | 29043 | ORPHA:101003 | Autosomal recessive spastic paraplegia type 23 | | | | 13 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | EIF2AK2 CL E G H | 5610 | 9437 | OMIM:618877 | LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN | | | | | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | FA2H CL E G H | 79152 | 21197 | ORPHA:171629 | Autosomal recessive spastic paraplegia type 35 | | | | 76 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | FA2H CL E G H | 79152 | 21197 | OMIM:612319 | Spastic paraplegia 35, autosomal recessive | | | | 76 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | FAR1 CL E G H | 84188 | 26222 | ORPHA:447753 | Autosomal dominant spastic paraplegia type 9A | | | | 7 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | FARS2 CL E G H | 10667 | 21062 | ORPHA:466722 | Autosomal recessive spastic paraplegia type 77 | | | | 36 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | FITM2 CL E G H | 128486 | 16135 | OMIM:618635 | SIDDIQI SYNDROME; SIDDIS | | | | | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | FLVCR1 CL E G H | 28982 | 24682 | OMIM:609033 | Ataxia, posterior column, with retinitis pigmentosa | | | | 111 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | FLVCR1 CL E G H | 28982 | 24682 | ORPHA:88628 | Posterior column ataxia-retinitis pigmentosa syndrome | | | | 111 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | FMR1 CL E G H | 2332 | 3775 | OMIM:300623 | Fragile X tremor/ataxia syndrome | | | | 30 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | FMR1 CL E G H | 2332 | 3775 | ORPHA:93256 | Fragile X-associated tremor/ataxia syndrome | | | | 30 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | FRMD5 CL E G H | 84978 | 28214 | OMIM:620094 | | | | | | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | FUS CL E G H | 2521 | 4010 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | | | | 105 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | FUZ CL E G H | 80199 | 26219 | ORPHA:3027 | Caudal regression sequence | | | | 3 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | FUZ CL E G H | 80199 | 26219 | OMIM:182940 | Neural tube defects, susceptibility to | | | | 3 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | GAA CL E G H | 2548 | 4065 | OMIM:232300 | Glycogen storage disease II | | | | 407 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | GABRA1 CL E G H | 2554 | 4075 | ORPHA:64280 | Childhood absence epilepsy | | | | 134 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | GABRB3 CL E G H | 2562 | 4083 | ORPHA:64280 | Childhood absence epilepsy | | | | 57 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:64280 | Childhood absence epilepsy | | | | 139 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | GALC CL E G H | 2581 | 4115 | ORPHA:206448 | Adult Krabbe disease | | | | 160 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | GALNT2 CL E G H | 2590 | 4124 | OMIM:618885 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T | | | | | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | GBA2 CL E G H | 57704 | 18986 | ORPHA:352641 | Autosomal recessive cerebellar ataxia with late-onset spasticity | | | | 30 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | GBA2 CL E G H | 57704 | 18986 | ORPHA:320391 | Autosomal recessive spastic paraplegia type 46 | | | | 30 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | GBA2 CL E G H | 57704 | 18986 | OMIM:614409 | Spastic paraplegia 46, autosomal recessive | | | | 30 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | GBE1 CL E G H | 2632 | 4180 | ORPHA:206583 | Adult polyglucosan body disease | | | | 86 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | GBE1 CL E G H | 2632 | 4180 | OMIM:263570 | Polyglucosan body neuropathy, adult form | | | | 86 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | GJC2 CL E G H | 57165 | 17494 | OMIM:613206 | Spastic paraplegia 44, autosomal recessive | | | | 37 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 8 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | HACE1 CL E G H | 57531 | 21033 | ORPHA:464282 | Spastic paraplegia-severe developmental delay-epilepsy syndrome | | | | 10 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | HEXB CL E G H | 3074 | 4879 | OMIM:268800 | Sandhoff disease | | | | 80 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | HEXB CL E G H | 3074 | 4879 | ORPHA:309162 | Sandhoff disease, juvenile form | | | | 80 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 3 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | HLA-DQB1 CL E G H | 3119 | 4944 | OMIM:126200 | Multiple sclerosis, susceptibility to | | | | | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | HLA-DRB1 CL E G H | 3123 | 4948 | OMIM:126200 | Multiple sclerosis, susceptibility to | | | | 2 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | HMBS CL E G H | 3145 | 4982 | ORPHA:79276 | Acute intermittent porphyria | | | | 81 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | HMBS CL E G H | 3145 | 4982 | OMIM:176000 | Porphyria, acute intermittent | | | | 81 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | HPSE2 CL E G H | 60495 | 18374 | ORPHA:2704 | Ochoa syndrome | | | | 9 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | HS6ST2 CL E G H | 90161 | 19133 | OMIM:301025 | Paganini-Miozzo syndrome | | | | | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | HSPD1 CL E G H | 3329 | 5261 | ORPHA:100994 | Autosomal dominant spastic paraplegia type 13 | | | | 46 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | HSPD1 CL E G H | 3329 | 5261 | OMIM:605280 | Spastic paraplegia 13, autosomal dominant | | | | 46 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | HTRA1 CL E G H | 5654 | 9476 | OMIM:600142 | Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) | | | | 34 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | IFT57 CL E G H | 55081 | 17367 | OMIM:617927 | Orofaciodigital syndrome XVIII | | | | | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | IGHMBP2 CL E G H | 3508 | 5542 | OMIM:604320 | Spinal muscular atrophy, distal, autosomal recessive, 1 | | | | 209 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | ISL1 CL E G H | 3670 | 6132 | ORPHA:93930 | Bladder exstrophy | | | | 2 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 2 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | JRK CL E G H | 8629 | 6199 | ORPHA:64280 | Childhood absence epilepsy | | | | | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | KCNC3 CL E G H | 3748 | 6235 | ORPHA:98768 | Spinocerebellar ataxia type 13 | | | | 17 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | KCND3 CL E G H | 3752 | 6239 | ORPHA:98772 | Spinocerebellar ataxia type 19/22 | | | | 35 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | KCNT1 CL E G H | 57582 | 18865 | ORPHA:98784 | Autosomal dominant nocturnal frontal lobe epilepsy | | | | 321 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | KIF5A CL E G H | 3798 | 6323 | OMIM:604187 | Spastic paraplegia 10, autosomal dominant | | | | 93 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | KMT2B CL E G H | 9757 | 15840 | OMIM:619934 | | | | | 11 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | KY CL E G H | 339855 | 26576 | OMIM:617114 | MYOPATHY, MYOFIBRILLAR, 7; MFM7 | | | | 3 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | LMNB1 CL E G H | 4001 | 6637 | OMIM:169500 | Leukodystrophy, adult-onset, autosomal dominant | | | | 44 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | LRIG2 CL E G H | 9860 | 20889 | ORPHA:2704 | Ochoa syndrome | | | | 5 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | MAPK1 CL E G H | 5594 | 6871 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | | | | 2 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | MAPK8IP3 CL E G H | 23162 | 6884 | OMIM:618443 | Neurodevelopmental disorder with or without variable brain abnormalities | | | | | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | MNX1 CL E G H | 3110 | 4979 | OMIM:176450 | Currarino syndrome | | | | 17 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | MORC2 CL E G H | 22880 | 23573 | ORPHA:466768 | Autosomal dominant Charcot-Marie-Tooth disease type 2Z | | | | 8 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | MORC2 CL E G H | 22880 | 23573 | OMIM:616688 | Charcot-Marie-Tooth disease, axonal, type 2Z | | | | 8 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | MTMR14 CL E G H | 64419 | 26190 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 7 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | MYF6 CL E G H | 4618 | 7566 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 19 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | MYO1H CL E G H | 283446 | 13879 | OMIM:619482 | CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2 | | | | | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | NEFL CL E G H | 4747 | 7739 | ORPHA:101085 | Charcot-Marie-Tooth disease type 1F | | | | 118 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | NEXMIF CL E G H | 340533 | 29433 | OMIM:300912 | Mental retardation, X-linked 98 | | | | 52 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | NF2 CL E G H | 4771 | 7773 | ORPHA:2495 | Meningioma | | | | 220 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | NIPA1 CL E G H | 123606 | 17043 | ORPHA:100988 | Autosomal dominant spastic paraplegia type 6 | | | | 117 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | NIPA1 CL E G H | 123606 | 17043 | OMIM:600363 | Spastic paraplegia 6, autosomal dominant | | | | 117 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | NOP56 CL E G H | 10528 | 15911 | ORPHA:276198 | Spinocerebellar ataxia type 36 | | | | 9 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | NOTCH2NLC CL E G H | 100996717 | 53924 | OMIM:603472 | NEURONAL INTRANUCLEAR INCLUSION DISEASE | | | | | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | NOTCH3 CL E G H | 4854 | 7883 | OMIM:125310 | Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy | | | | 144 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | NOTCH3 CL E G H | 4854 | 7883 | ORPHA:136 | Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy | | | | 144 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | PANK2 CL E G H | 80025 | 15894 | OMIM:234200 | Neurodegeneration with brain iron accumulation 1 | | | | 55 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | PDCD1 CL E G H | 5133 | 8760 | OMIM:126200 | Multiple sclerosis, susceptibility to | | | | 1 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | PDGFB CL E G H | 5155 | 8800 | OMIM:213600 | Basal ganglia calcification, idiopathic, 1 | | | | 9 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | PDGFB CL E G H | 5155 | 8800 | ORPHA:2495 | Meningioma | | | | 9 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | PDGFRB CL E G H | 5159 | 8804 | OMIM:213600 | Basal ganglia calcification, idiopathic, 1 | | | | 28 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | PEX11B CL E G H | 8799 | 8853 | OMIM:614920 | Peroxisome biogenesis disorder 14B | | | | 4 | | |
HP:0031058 | HP:0031061 | Impaired toileting ability | 1 | PIGF CL E G H | 5281 | 8962 | OMIM:619356 | ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS | | | | | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:2495 | Meningioma | | | | 162 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | PLP1 CL E G H | 5354 | 9086 | ORPHA:99015 | Spastic paraplegia type 2 | | | | 60 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | PRDM8 CL E G H | 56978 | 13993 | OMIM:616640 | Epilepsy, progressive myoclonic, 10 | | | | 1 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | PSAP CL E G H | 5660 | 9498 | OMIM:249900 | Metachromatic leukodystrophy due to saposin B deficiency | | | | 81 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | PSAP CL E G H | 5660 | 9498 | ORPHA:309271 | Metachromatic leukodystrophy, adult form | | | | 81 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | PSAP CL E G H | 5660 | 9498 | ORPHA:309263 | Metachromatic leukodystrophy, juvenile form | | | | 81 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | PSAP CL E G H | 5660 | 9498 | ORPHA:309256 | Metachromatic leukodystrophy, late infantile form | | | | 81 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | RETREG1 CL E G H | 54463 | 25964 | OMIM:613115 | Neuropathy, hereditary sensory and autonomic, type IIB | | | | 54 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | RNF170 CL E G H | 81790 | 25358 | OMIM:619686 | SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG85 | | | | 3 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | RSRC1 CL E G H | 51319 | 24152 | OMIM:618402 | Intellectual developmental disorder, autosomal recessive 70 | | | | 2 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | RTN2 CL E G H | 6253 | 10468 | ORPHA:100993 | Autosomal dominant spastic paraplegia type 12 | | | | 25 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | RTN2 CL E G H | 6253 | 10468 | OMIM:604805 | Spastic paraplegia 12, autosomal dominant | | | | 25 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | RYR1 CL E G H | 6261 | 10483 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 1200 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | SACS CL E G H | 26278 | 10519 | ORPHA:98 | Autosomal recessive spastic ataxia of Charlevoix-Saguenay | | | | 309 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | SALL1 CL E G H | 6299 | 10524 | ORPHA:857 | Townes-Brocks syndrome | | | | 124 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | SBF1 CL E G H | 6305 | 10542 | OMIM:615284 | Charcot-Marie-Tooth disease, type 4B3 | | | | 16 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | SCN4A CL E G H | 6329 | 10591 | ORPHA:682 | Hyperkalemic periodic paralysis | | | | 263 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | SCN9A CL E G H | 6335 | 10597 | OMIM:243000 | Indifference to pain, congenital, autosomal recessive | | | | 318 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | SIGMAR1 CL E G H | 10280 | 8157 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | | | | 6 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | SLC12A3 CL E G H | 6559 | 10912 | ORPHA:358 | Gitelman syndrome | | | | 145 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | SLC1A4 CL E G H | 6509 | 10942 | ORPHA:447997 | Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome | | | | 4 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | SLC20A2 CL E G H | 6575 | 10947 | OMIM:213600 | Basal ganglia calcification, idiopathic, 1 | | | | 70 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | SLC2A1 CL E G H | 6513 | 11005 | ORPHA:64280 | Childhood absence epilepsy | | | | 255 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | SLC44A1 CL E G H | 23446 | 18798 | OMIM:618868 | NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC | | | | 1 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | SLC9A6 CL E G H | 10479 | 11079 | OMIM:300243 | Mental retardation, x-linked syndromic, Christianson type | | | | 93 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:2495 | Meningioma | | | | 87 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:2495 | Meningioma | | | | 47 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | SMO CL E G H | 6608 | 11119 | ORPHA:2495 | Meningioma | | | | 22 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | SPAST CL E G H | 6683 | 11233 | OMIM:182601 | Spastic paraplegia 4, autosomal dominant | | | | 208 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | SPG11 CL E G H | 80208 | 11226 | OMIM:602099 | Amyotrophic lateral sclerosis 5, juvenile | | | | 287 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | SPG11 CL E G H | 80208 | 11226 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | | | | 287 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | SPG11 CL E G H | 80208 | 11226 | OMIM:604360 | Spastic paraplegia 11, autosomal recessive | | | | 287 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | SPG7 CL E G H | 6687 | 11237 | OMIM:607259 | Spastic paraplegia 7, autosomal recessive | | | | 171 | | |
HP:0031058 | HP:0031060 | Impaired ability to dress oneself | 1 | SPTLC1 CL E G H | 10558 | 11277 | ORPHA:36386 | Hereditary sensory and autonomic neuropathy type 1 | HP:0040281 - Very frequent | | | 54 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | SPTLC1 CL E G H | 10558 | 11277 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | | | | 54 | | |
HP:0031058 | HP:0031060 | Impaired ability to dress oneself | 1 | SPTLC2 CL E G H | 9517 | 11278 | ORPHA:36386 | Hereditary sensory and autonomic neuropathy type 1 | HP:0040281 - Very frequent | | | 149 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | SQSTM1 CL E G H | 8878 | 11280 | OMIM:617145 | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | | | | 62 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | STUB1 CL E G H | 10273 | 11427 | OMIM:618093 | SPINOCEREBELLAR ATAXIA 48; SCA48 | | | | 14 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | SUFU CL E G H | 51684 | 16466 | ORPHA:2495 | Meningioma | | | | 124 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:88644 | Autosomal recessive ataxia, Beauce type | | | | 1129 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | TBCD CL E G H | 6904 | 11581 | ORPHA:496641 | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | | | | 16 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | TBCD CL E G H | 6904 | 11581 | OMIM:617193 | ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT | | | | 16 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | TBP CL E G H | 6908 | 11588 | OMIM:607136 | Spinocerebellar ataxia 17 | | | | 7 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 32 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | TBXT CL E G H | 6862 | 11515 | OMIM:182940 | Neural tube defects, susceptibility to | | | | | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | TERT CL E G H | 7015 | 11730 | ORPHA:2495 | Meningioma | | | | 238 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | TIMM50 CL E G H | 92609 | 23656 | ORPHA:505216 | 3-methylglutaconic aciduria type 9 | | | | 1 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | TIMM50 CL E G H | 92609 | 23656 | OMIM:617698 | 3-methylglutaconic aciduria, type IX | | | | 1 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | TP63 CL E G H | 8626 | 15979 | ORPHA:93930 | Bladder exstrophy | | | | 140 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | TRAF7 CL E G H | 84231 | 20456 | ORPHA:2495 | Meningioma | | | | | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | TRIO CL E G H | 7204 | 12303 | ORPHA:476126 | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | | | | 8 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | TRPV4 CL E G H | 59341 | 18083 | OMIM:606071 | Hereditary motor and sensory neuropathy, type IIC | | | | 214 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | TTR CL E G H | 7276 | 12405 | OMIM:105210 | Amyloidosis, hereditary, transthyretin-related | | | | 107 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | TYROBP CL E G H | 7305 | 12449 | OMIM:221770 | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | | | | 22 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | UBAP1 CL E G H | 51271 | 12461 | ORPHA:100993 | Autosomal dominant spastic paraplegia type 12 | | | | | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | VANGL1 CL E G H | 81839 | 15512 | ORPHA:3027 | Caudal regression sequence | | | | 111 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | VANGL1 CL E G H | 81839 | 15512 | OMIM:182940 | Neural tube defects, susceptibility to | | | | 111 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | VANGL2 CL E G H | 57216 | 15511 | OMIM:182940 | Neural tube defects, susceptibility to | | | | 2 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | VCP CL E G H | 7415 | 12666 | ORPHA:329478 | Adult-onset distal myopathy due to VCP mutation | | | | 63 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | WASHC5 CL E G H | 9897 | 28984 | ORPHA:100989 | Autosomal dominant spastic paraplegia type 8 | | | | 83 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | WASHC5 CL E G H | 9897 | 28984 | OMIM:603563 | Spastic paraplegia 8, autosomal dominant | | | | 83 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | ZC4H2 CL E G H | 55906 | 24931 | OMIM:301041 | WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR | | | | 19 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261552 | Mowat-Wilson syndrome due to a ZEB2 point mutation | | | | 362 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261537 | Mowat-Wilson syndrome due to monosomy 2q22 | | | | 362 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | ZFYVE26 CL E G H | 23503 | 20761 | OMIM:270700 | Spastic paraplegia 15, autosomal recessive | | | | 189 | | |
HP:0031058 | HP:0031064 | Impaired continence | 1 | ZMYM2 CL E G H | 7750 | 12989 | OMIM:619522 | NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC | | | | | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | ABCD1 CL E G H | 215 | 61 | OMIM:300100 | Adrenoleukodystrophy | . | | | 135 | | |
HP:0031058 | HP:0002607 | Bowel incontinence | 2 | ABCD1 CL E G H | 215 | 61 | OMIM:300100 | Adrenoleukodystrophy | . | | | 135 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | ABCD1 CL E G H | 215 | 61 | ORPHA:139399 | Adrenomyeloneuropathy | HP:0040283 - Occasional | | | 135 | | |
HP:0031058 | HP:0002607 | Bowel incontinence | 2 | ABCD1 CL E G H | 215 | 61 | ORPHA:139399 | Adrenomyeloneuropathy | HP:0040282 - Frequent | | | 135 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | ADNP CL E G H | 23394 | 15766 | ORPHA:404448 | ADNP syndrome | HP:0040281 - Very frequent | | | 47 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | AKT1 CL E G H | 207 | 391 | ORPHA:2495 | Meningioma | HP:0040284 - Very rare | | | 54 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:447753 | Autosomal dominant spastic paraplegia type 9A | HP:0040283 - Occasional | | | 89 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | ALDH18A1 CL E G H | 5832 | 9722 | OMIM:601162 | Spastic paraplegia 9A, autosomal dominant | HP:0040283 - Occasional | | | 89 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | ALDH18A1 CL E G H | 5832 | 9722 | OMIM:616586 | Spastic paraplegia 9B, autosomal recessive | | | | 89 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | ALMS1 CL E G H | 7840 | 428 | ORPHA:64 | Alström syndrome | HP:0040283 - Occasional | | | 404 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | ALS2 CL E G H | 57679 | 443 | OMIM:205100 | Amyotrophic lateral sclerosis 2, juvenile | | | | 114 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | ALS2 CL E G H | 57679 | 443 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 114 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | ALS2 CL E G H | 57679 | 443 | OMIM:607225 | Spastic paralysis, infantile-onset ascending | . | | | 114 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | AP5Z1 CL E G H | 9907 | 22197 | ORPHA:306511 | Autosomal recessive spastic paraplegia type 48 | HP:0040282 - Frequent | | | 165 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | AP5Z1 CL E G H | 9907 | 22197 | OMIM:613647 | Spastic paraplegia 48, autosomal recessive | . | | | 165 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | ARSA CL E G H | 410 | 713 | OMIM:250100 | Metachromatic leukodystrophy | . | | | 253 | | |
HP:0031058 | HP:0002607 | Bowel incontinence | 2 | ARSA CL E G H | 410 | 713 | ORPHA:309271 | Metachromatic leukodystrophy, adult form | HP:0040283 - Occasional | | | 253 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | ARSA CL E G H | 410 | 713 | ORPHA:309271 | Metachromatic leukodystrophy, adult form | HP:0040283 - Occasional | | | 253 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | ARSA CL E G H | 410 | 713 | ORPHA:309263 | Metachromatic leukodystrophy, juvenile form | HP:0040282 - Frequent | | | 253 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | ARSA CL E G H | 410 | 713 | ORPHA:309256 | Metachromatic leukodystrophy, late infantile form | HP:0040282 - Frequent | | | 253 | | |
HP:0031058 | HP:0002607 | Bowel incontinence | 2 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | ARX CL E G H | 170302 | 18060 | OMIM:300419 | Mental retardation, X-linked, with or without seizures, arx-related | | | | 166 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | ATL1 CL E G H | 51062 | 11231 | OMIM:182600 | Spastic paraplegia 3, autosomal dominant | . | | | 71 | | |
HP:0031058 | HP:0002607 | Bowel incontinence | 2 | ATP13A2 CL E G H | 23400 | 30213 | ORPHA:306674 | Kufor-Rakeb syndrome | HP:0040283 - Occasional | | | 100 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | ATP13A2 CL E G H | 23400 | 30213 | ORPHA:306674 | Kufor-Rakeb syndrome | HP:0040282 - Frequent | | | 100 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | ATXN10 CL E G H | 25814 | 10549 | OMIM:603516 | Spinocerebellar ataxia 10 | . | | | 9 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | ATXN2 CL E G H | 6311 | 10555 | OMIM:183090 | Spinocerebellar ataxia 2 | | | | 11 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | ATXN8 CL E G H | 724066 | 32925 | ORPHA:98760 | Spinocerebellar ataxia type 8 | HP:0040283 - Occasional | | | 1 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | ATXN8OS CL E G H | 6315 | 10561 | ORPHA:98760 | Spinocerebellar ataxia type 8 | HP:0040283 - Occasional | | | 1 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | AUH CL E G H | 549 | 890 | OMIM:250950 | 3-methylglutaconic aciduria, type I | . | | | 49 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | BAP1 CL E G H | 8314 | 950 | ORPHA:2495 | Meningioma | HP:0040284 - Very rare | | | 184 | | |
HP:0031058 | HP:0002607 | Bowel incontinence | 2 | BCR CL E G H | 613 | 1014 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | BIN1 CL E G H | 274 | 1052 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040283 - Occasional | | | 99 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | BNC2 CL E G H | 54796 | 30988 | OMIM:618612 | LOWER URINARY TRACT OBSTRUCTION, CONGENITAL; LUTO | | | | 22 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | BNC2 CL E G H | 54796 | 30988 | ORPHA:93110 | Posterior urethral valve | HP:0040283 - Occasional | | | 22 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | C19ORF12 CL E G H | 83636 | 25443 | ORPHA:289560 | Mitochondrial membrane protein-associated neurodegeneration | HP:0040282 - Frequent | | | 114 | | |
HP:0031058 | HP:0002607 | Bowel incontinence | 2 | C19ORF12 CL E G H | 83636 | 25443 | ORPHA:289560 | Mitochondrial membrane protein-associated neurodegeneration | HP:0040282 - Frequent | | | 114 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | CABP4 CL E G H | 57010 | 1386 | ORPHA:98784 | Autosomal dominant nocturnal frontal lobe epilepsy | HP:0040283 - Occasional | | | 94 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | CACNA1G CL E G H | 8913 | 1394 | OMIM:616795 | Spinocerebellar ataxia 42 | | | | 32 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | CACNA1G CL E G H | 8913 | 1394 | ORPHA:458803 | Spinocerebellar ataxia type 42 | HP:0040283 - Occasional | | | 32 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | CACNA1H CL E G H | 8912 | 1395 | ORPHA:64280 | Childhood absence epilepsy | HP:0040284 - Very rare | | | 75 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | CAPN1 CL E G H | 823 | 1476 | OMIM:616907 | SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG76 | | | | 4 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | CCL2 CL E G H | 6347 | 10618 | OMIM:182940 | Neural tube defects, susceptibility to | . | | | 3 | | |
HP:0031058 | HP:0002607 | Bowel incontinence | 2 | CFAP43 CL E G H | 80217 | 26684 | OMIM:236690 | Hydrocephalus, normal pressure, 1 | . | | | 6 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | CFAP43 CL E G H | 80217 | 26684 | OMIM:236690 | Hydrocephalus, normal pressure, 1 | . | | | 6 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | CHMP2B CL E G H | 25978 | 24537 | OMIM:600795 | Frontotemporal dementia and/or amytrophic lateral sclerosis 7 | . | | | 42 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | CHRNA2 CL E G H | 1135 | 1956 | ORPHA:98784 | Autosomal dominant nocturnal frontal lobe epilepsy | HP:0040283 - Occasional | | | 188 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | CHRNA4 CL E G H | 1137 | 1958 | ORPHA:98784 | Autosomal dominant nocturnal frontal lobe epilepsy | HP:0040283 - Occasional | | | 225 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | CHRNB2 CL E G H | 1141 | 1962 | ORPHA:98784 | Autosomal dominant nocturnal frontal lobe epilepsy | HP:0040283 - Occasional | | | 88 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | CLCNKB CL E G H | 1188 | 2027 | ORPHA:358 | Gitelman syndrome | HP:0040284 - Very rare | | | 27 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | COG5 CL E G H | 10466 | 14857 | ORPHA:263487 | COG5-CDG | HP:0040283 - Occasional | | | 79 | | |
HP:0031058 | HP:0002607 | Bowel incontinence | 2 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | COPB1 CL E G H | 1315 | 2231 | OMIM:619255 | BARALLE-MACKEN SYNDROME; BARMACS | | | | | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | COQ2 CL E G H | 27235 | 25223 | OMIM:146500 | Multiple system atrophy 1, susceptibility to | . | | | 54 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | CPT1C CL E G H | 126129 | 18540 | ORPHA:444099 | Autosomal dominant spastic paraplegia type 73 | HP:0040282 - Frequent | | | 1 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | CRH CL E G H | 1392 | 2355 | ORPHA:98784 | Autosomal dominant nocturnal frontal lobe epilepsy | HP:0040283 - Occasional | | | 1 | | |
HP:0031058 | HP:0002607 | Bowel incontinence | 2 | CRKL CL E G H | 1399 | 2363 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | CYP7B1 CL E G H | 9420 | 2652 | OMIM:270800 | Spastic paraplegia 5A, autosomal recessive | | | | 57 | | |
HP:0031058 | HP:0002607 | Bowel incontinence | 2 | DACT1 CL E G H | 51339 | 17748 | ORPHA:857 | Townes-Brocks syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | DDHD2 CL E G H | 23259 | 29106 | OMIM:615033 | Spastic paraplegia 54, autosomal recessive | HP:0040283 - Occasional | | | 29 | | |
HP:0031058 | HP:0002607 | Bowel incontinence | 2 | DDHD2 CL E G H | 23259 | 29106 | OMIM:615033 | Spastic paraplegia 54, autosomal recessive | HP:0040283 - Occasional | | | 29 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | DEPDC5 CL E G H | 9681 | 18423 | ORPHA:98784 | Autosomal dominant nocturnal frontal lobe epilepsy | HP:0040283 - Occasional | | | 172 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | DKK1 CL E G H | 22943 | 2891 | ORPHA:268882 | Arnold-Chiari malformation type I | HP:0040283 - Occasional | | | | | |
HP:0031058 | HP:0002607 | Bowel incontinence | 2 | DMPK CL E G H | 1760 | 2933 | ORPHA:589821 | Congenital-onset Steinert myotonic dystrophy | | | | 152 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | DNM2 CL E G H | 1785 | 2974 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040283 - Occasional | | | 167 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | DNMT1 CL E G H | 1786 | 2976 | ORPHA:314404 | Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome | HP:0040283 - Occasional | | | 145 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | DPH5 CL E G H | 51611 | 24270 | OMIM:620070 | | | | | | | |
HP:0031058 | HP:0002607 | Bowel incontinence | 2 | DSTYK CL E G H | 25778 | 29043 | ORPHA:101003 | Autosomal recessive spastic paraplegia type 23 | HP:0040282 - Frequent | | | 13 | | |
HP:0031058 | HP:0002607 | Bowel incontinence | 2 | EIF2AK2 CL E G H | 5610 | 9437 | OMIM:618877 | LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN | | | | | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | EIF2AK2 CL E G H | 5610 | 9437 | OMIM:618877 | LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN | | | | | | |
HP:0031058 | HP:0002607 | Bowel incontinence | 2 | FA2H CL E G H | 79152 | 21197 | ORPHA:171629 | Autosomal recessive spastic paraplegia type 35 | HP:0040283 - Occasional | | | 76 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | FA2H CL E G H | 79152 | 21197 | ORPHA:171629 | Autosomal recessive spastic paraplegia type 35 | HP:0040283 - Occasional | | | 76 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | FA2H CL E G H | 79152 | 21197 | OMIM:612319 | Spastic paraplegia 35, autosomal recessive | HP:0040283 - Occasional | | | 76 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | FAR1 CL E G H | 84188 | 26222 | ORPHA:447753 | Autosomal dominant spastic paraplegia type 9A | HP:0040283 - Occasional | | | 7 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | FARS2 CL E G H | 10667 | 21062 | ORPHA:466722 | Autosomal recessive spastic paraplegia type 77 | HP:0040283 - Occasional | | | 36 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | FITM2 CL E G H | 128486 | 16135 | OMIM:618635 | SIDDIQI SYNDROME; SIDDIS | | | | | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | FLVCR1 CL E G H | 28982 | 24682 | OMIM:609033 | Ataxia, posterior column, with retinitis pigmentosa | | | | 111 | | |
HP:0031058 | HP:0002607 | Bowel incontinence | 2 | FLVCR1 CL E G H | 28982 | 24682 | ORPHA:88628 | Posterior column ataxia-retinitis pigmentosa syndrome | HP:0040284 - Very rare | | | 111 | | |
HP:0031058 | HP:0002607 | Bowel incontinence | 2 | FMR1 CL E G H | 2332 | 3775 | OMIM:300623 | Fragile X tremor/ataxia syndrome | | | | 30 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | FMR1 CL E G H | 2332 | 3775 | OMIM:300623 | Fragile X tremor/ataxia syndrome | | | | 30 | | |
HP:0031058 | HP:0002607 | Bowel incontinence | 2 | FMR1 CL E G H | 2332 | 3775 | ORPHA:93256 | Fragile X-associated tremor/ataxia syndrome | HP:0040283 - Occasional | | | 30 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | FRMD5 CL E G H | 84978 | 28214 | OMIM:620094 | | | | | | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | FUS CL E G H | 2521 | 4010 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 105 | | |
HP:0031058 | HP:0002607 | Bowel incontinence | 2 | FUZ CL E G H | 80199 | 26219 | ORPHA:3027 | Caudal regression sequence | HP:0040281 - Very frequent | | | 3 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | FUZ CL E G H | 80199 | 26219 | OMIM:182940 | Neural tube defects, susceptibility to | . | | | 3 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | GAA CL E G H | 2548 | 4065 | OMIM:232300 | Glycogen storage disease II | | | | 407 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | GABRA1 CL E G H | 2554 | 4075 | ORPHA:64280 | Childhood absence epilepsy | HP:0040284 - Very rare | | | 134 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | GABRB3 CL E G H | 2562 | 4083 | ORPHA:64280 | Childhood absence epilepsy | HP:0040284 - Very rare | | | 57 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:64280 | Childhood absence epilepsy | HP:0040284 - Very rare | | | 139 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | GALC CL E G H | 2581 | 4115 | ORPHA:206448 | Adult Krabbe disease | HP:0040284 - Very rare | | | 160 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | GALNT2 CL E G H | 2590 | 4124 | OMIM:618885 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T | | | | | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | GBA2 CL E G H | 57704 | 18986 | ORPHA:352641 | Autosomal recessive cerebellar ataxia with late-onset spasticity | HP:0040283 - Occasional | | | 30 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | GBA2 CL E G H | 57704 | 18986 | ORPHA:320391 | Autosomal recessive spastic paraplegia type 46 | HP:0040283 - Occasional | | | 30 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | GBA2 CL E G H | 57704 | 18986 | OMIM:614409 | Spastic paraplegia 46, autosomal recessive | . | | | 30 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | GBE1 CL E G H | 2632 | 4180 | ORPHA:206583 | Adult polyglucosan body disease | HP:0040281 - Very frequent | | | 86 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | GBE1 CL E G H | 2632 | 4180 | OMIM:263570 | Polyglucosan body neuropathy, adult form | | | | 86 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | GJC2 CL E G H | 57165 | 17494 | OMIM:613206 | Spastic paraplegia 44, autosomal recessive | HP:0040282 - Frequent | | | 37 | | |
HP:0031058 | HP:0002607 | Bowel incontinence | 2 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | HACE1 CL E G H | 57531 | 21033 | ORPHA:464282 | Spastic paraplegia-severe developmental delay-epilepsy syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | HEXB CL E G H | 3074 | 4879 | OMIM:268800 | Sandhoff disease | . | | | 80 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | HEXB CL E G H | 3074 | 4879 | ORPHA:309162 | Sandhoff disease, juvenile form | | | | 80 | | |
HP:0031058 | HP:0002607 | Bowel incontinence | 2 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | HLA-DQB1 CL E G H | 3119 | 4944 | OMIM:126200 | Multiple sclerosis, susceptibility to | . | | | | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | HLA-DRB1 CL E G H | 3123 | 4948 | OMIM:126200 | Multiple sclerosis, susceptibility to | . | | | 2 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | HMBS CL E G H | 3145 | 4982 | ORPHA:79276 | Acute intermittent porphyria | HP:0040284 - Very rare | | | 81 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | HMBS CL E G H | 3145 | 4982 | OMIM:176000 | Porphyria, acute intermittent | . | | | 81 | | |
HP:0031058 | HP:0002607 | Bowel incontinence | 2 | HPSE2 CL E G H | 60495 | 18374 | ORPHA:2704 | Ochoa syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | HPSE2 CL E G H | 60495 | 18374 | ORPHA:2704 | Ochoa syndrome | HP:0040282 - Frequent | | | 9 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | HS6ST2 CL E G H | 90161 | 19133 | OMIM:301025 | Paganini-Miozzo syndrome | . | | | | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | HSPD1 CL E G H | 3329 | 5261 | ORPHA:100994 | Autosomal dominant spastic paraplegia type 13 | HP:0040282 - Frequent | | | 46 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | HSPD1 CL E G H | 3329 | 5261 | OMIM:605280 | Spastic paraplegia 13, autosomal dominant | . | | | 46 | | |
HP:0031058 | HP:0002607 | Bowel incontinence | 2 | HTRA1 CL E G H | 5654 | 9476 | OMIM:600142 | Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) | | | | 34 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | HTRA1 CL E G H | 5654 | 9476 | OMIM:600142 | Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) | . | | | 34 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | IFT57 CL E G H | 55081 | 17367 | OMIM:617927 | Orofaciodigital syndrome XVIII | . | | | | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | IGHMBP2 CL E G H | 3508 | 5542 | OMIM:604320 | Spinal muscular atrophy, distal, autosomal recessive, 1 | . | | | 209 | | |
HP:0031058 | HP:0002607 | Bowel incontinence | 2 | ISL1 CL E G H | 3670 | 6132 | ORPHA:93930 | Bladder exstrophy | HP:0040283 - Occasional | | | 2 | | |
HP:0031058 | HP:0002607 | Bowel incontinence | 2 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | JRK CL E G H | 8629 | 6199 | ORPHA:64280 | Childhood absence epilepsy | HP:0040284 - Very rare | | | | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | KCNC3 CL E G H | 3748 | 6235 | ORPHA:98768 | Spinocerebellar ataxia type 13 | HP:0040283 - Occasional | | | 17 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | KCND3 CL E G H | 3752 | 6239 | ORPHA:98772 | Spinocerebellar ataxia type 19/22 | HP:0040282 - Frequent | | | 35 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | KCNT1 CL E G H | 57582 | 18865 | ORPHA:98784 | Autosomal dominant nocturnal frontal lobe epilepsy | HP:0040283 - Occasional | | | 321 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | KIF5A CL E G H | 3798 | 6323 | OMIM:604187 | Spastic paraplegia 10, autosomal dominant | . | | | 93 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | KMT2B CL E G H | 9757 | 15840 | OMIM:619934 | | | | | 11 | | |
HP:0031058 | HP:0002607 | Bowel incontinence | 2 | KY CL E G H | 339855 | 26576 | OMIM:617114 | MYOPATHY, MYOFIBRILLAR, 7; MFM7 | | | | 3 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | KY CL E G H | 339855 | 26576 | OMIM:617114 | MYOPATHY, MYOFIBRILLAR, 7; MFM7 | | | | 3 | | |
HP:0031058 | HP:0002607 | Bowel incontinence | 2 | LMNB1 CL E G H | 4001 | 6637 | OMIM:169500 | Leukodystrophy, adult-onset, autosomal dominant | | | | 44 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | LRIG2 CL E G H | 9860 | 20889 | ORPHA:2704 | Ochoa syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0031058 | HP:0002607 | Bowel incontinence | 2 | LRIG2 CL E G H | 9860 | 20889 | ORPHA:2704 | Ochoa syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0031058 | HP:0002607 | Bowel incontinence | 2 | MAPK1 CL E G H | 5594 | 6871 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0031058 | HP:0002607 | Bowel incontinence | 2 | MAPK8IP3 CL E G H | 23162 | 6884 | OMIM:618443 | Neurodevelopmental disorder with or without variable brain abnormalities | | | | | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | MNX1 CL E G H | 3110 | 4979 | OMIM:176450 | Currarino syndrome | . | | | 17 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | MORC2 CL E G H | 22880 | 23573 | ORPHA:466768 | Autosomal dominant Charcot-Marie-Tooth disease type 2Z | HP:0040284 - Very rare | | | 8 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | MORC2 CL E G H | 22880 | 23573 | OMIM:616688 | Charcot-Marie-Tooth disease, axonal, type 2Z | HP:0040283 - Occasional | | | 8 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | MTMR14 CL E G H | 64419 | 26190 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040283 - Occasional | | | 7 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | MYF6 CL E G H | 4618 | 7566 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040283 - Occasional | | | 19 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | MYO1H CL E G H | 283446 | 13879 | OMIM:619482 | CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2 | | | | | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | NEFL CL E G H | 4747 | 7739 | ORPHA:101085 | Charcot-Marie-Tooth disease type 1F | HP:0040283 - Occasional | | | 118 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | NEXMIF CL E G H | 340533 | 29433 | OMIM:300912 | Mental retardation, X-linked 98 | | | | 52 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | NF2 CL E G H | 4771 | 7773 | ORPHA:2495 | Meningioma | HP:0040284 - Very rare | | | 220 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | NIPA1 CL E G H | 123606 | 17043 | ORPHA:100988 | Autosomal dominant spastic paraplegia type 6 | HP:0040283 - Occasional | | | 117 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | NIPA1 CL E G H | 123606 | 17043 | OMIM:600363 | Spastic paraplegia 6, autosomal dominant | . | | | 117 | | |
HP:0031058 | HP:0002607 | Bowel incontinence | 2 | NOP56 CL E G H | 10528 | 15911 | ORPHA:276198 | Spinocerebellar ataxia type 36 | HP:0040284 - Very rare | | | 9 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | NOTCH2NLC CL E G H | 100996717 | 53924 | OMIM:603472 | NEURONAL INTRANUCLEAR INCLUSION DISEASE | | | | | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | NOTCH3 CL E G H | 4854 | 7883 | OMIM:125310 | Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy | . | | | 144 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | NOTCH3 CL E G H | 4854 | 7883 | ORPHA:136 | Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy | | | | 144 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | PANK2 CL E G H | 80025 | 15894 | OMIM:234200 | Neurodegeneration with brain iron accumulation 1 | . | | | 55 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | PDCD1 CL E G H | 5133 | 8760 | OMIM:126200 | Multiple sclerosis, susceptibility to | . | | | 1 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | PDGFB CL E G H | 5155 | 8800 | OMIM:213600 | Basal ganglia calcification, idiopathic, 1 | . | | | 9 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | PDGFB CL E G H | 5155 | 8800 | ORPHA:2495 | Meningioma | HP:0040284 - Very rare | | | 9 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | PDGFRB CL E G H | 5159 | 8804 | OMIM:213600 | Basal ganglia calcification, idiopathic, 1 | . | | | 28 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | PEX11B CL E G H | 8799 | 8853 | OMIM:614920 | Peroxisome biogenesis disorder 14B | . | | | 4 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:2495 | Meningioma | HP:0040284 - Very rare | | | 162 | | |
HP:0031058 | HP:0002607 | Bowel incontinence | 2 | PLP1 CL E G H | 5354 | 9086 | ORPHA:99015 | Spastic paraplegia type 2 | HP:0040282 - Frequent | | | 60 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | PRDM8 CL E G H | 56978 | 13993 | OMIM:616640 | Epilepsy, progressive myoclonic, 10 | | | | 1 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | PSAP CL E G H | 5660 | 9498 | OMIM:249900 | Metachromatic leukodystrophy due to saposin B deficiency | . | | | 81 | | |
HP:0031058 | HP:0002607 | Bowel incontinence | 2 | PSAP CL E G H | 5660 | 9498 | ORPHA:309271 | Metachromatic leukodystrophy, adult form | HP:0040283 - Occasional | | | 81 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | PSAP CL E G H | 5660 | 9498 | ORPHA:309271 | Metachromatic leukodystrophy, adult form | HP:0040283 - Occasional | | | 81 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | PSAP CL E G H | 5660 | 9498 | ORPHA:309263 | Metachromatic leukodystrophy, juvenile form | HP:0040282 - Frequent | | | 81 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | PSAP CL E G H | 5660 | 9498 | ORPHA:309256 | Metachromatic leukodystrophy, late infantile form | HP:0040282 - Frequent | | | 81 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | RETREG1 CL E G H | 54463 | 25964 | OMIM:613115 | Neuropathy, hereditary sensory and autonomic, type IIB | . | | | 54 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | RNF170 CL E G H | 81790 | 25358 | OMIM:619686 | SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG85 | | | | 3 | | |
HP:0031058 | HP:0002607 | Bowel incontinence | 2 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | RSRC1 CL E G H | 51319 | 24152 | OMIM:618402 | Intellectual developmental disorder, autosomal recessive 70 | | | | 2 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | RTN2 CL E G H | 6253 | 10468 | ORPHA:100993 | Autosomal dominant spastic paraplegia type 12 | HP:0040282 - Frequent | | | 25 | | |
HP:0031058 | HP:0002607 | Bowel incontinence | 2 | RTN2 CL E G H | 6253 | 10468 | ORPHA:100993 | Autosomal dominant spastic paraplegia type 12 | HP:0040283 - Occasional | | | 25 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | RTN2 CL E G H | 6253 | 10468 | OMIM:604805 | Spastic paraplegia 12, autosomal dominant | . | | | 25 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | RYR1 CL E G H | 6261 | 10483 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040283 - Occasional | | | 1200 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | SACS CL E G H | 26278 | 10519 | ORPHA:98 | Autosomal recessive spastic ataxia of Charlevoix-Saguenay | HP:0040282 - Frequent | | | 309 | | |
HP:0031058 | HP:0002607 | Bowel incontinence | 2 | SALL1 CL E G H | 6299 | 10524 | ORPHA:857 | Townes-Brocks syndrome | HP:0040283 - Occasional | | | 124 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | SBF1 CL E G H | 6305 | 10542 | OMIM:615284 | Charcot-Marie-Tooth disease, type 4B3 | HP:0040283 - Occasional | | | 16 | | |
HP:0031058 | HP:0002607 | Bowel incontinence | 2 | SCN4A CL E G H | 6329 | 10591 | ORPHA:682 | Hyperkalemic periodic paralysis | HP:0040283 - Occasional | | | 263 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | SCN9A CL E G H | 6335 | 10597 | OMIM:243000 | Indifference to pain, congenital, autosomal recessive | . | | | 318 | | |
HP:0031058 | HP:0002607 | Bowel incontinence | 2 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | SIGMAR1 CL E G H | 10280 | 8157 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 6 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | SLC12A3 CL E G H | 6559 | 10912 | ORPHA:358 | Gitelman syndrome | HP:0040284 - Very rare | | | 145 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | SLC1A4 CL E G H | 6509 | 10942 | ORPHA:447997 | Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | SLC20A2 CL E G H | 6575 | 10947 | OMIM:213600 | Basal ganglia calcification, idiopathic, 1 | . | | | 70 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | SLC2A1 CL E G H | 6513 | 11005 | ORPHA:64280 | Childhood absence epilepsy | HP:0040284 - Very rare | | | 255 | | |
HP:0031058 | HP:0002607 | Bowel incontinence | 2 | SLC44A1 CL E G H | 23446 | 18798 | OMIM:618868 | NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC | | | | 1 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | SLC44A1 CL E G H | 23446 | 18798 | OMIM:618868 | NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC | | | | 1 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | SLC9A6 CL E G H | 10479 | 11079 | OMIM:300243 | Mental retardation, x-linked syndromic, Christianson type | . | | | 93 | | |
HP:0031058 | HP:0002607 | Bowel incontinence | 2 | SLC9A6 CL E G H | 10479 | 11079 | OMIM:300243 | Mental retardation, x-linked syndromic, Christianson type | . | | | 93 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:2495 | Meningioma | HP:0040284 - Very rare | | | 87 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:2495 | Meningioma | HP:0040284 - Very rare | | | 47 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | SMO CL E G H | 6608 | 11119 | ORPHA:2495 | Meningioma | HP:0040284 - Very rare | | | 22 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | SPAST CL E G H | 6683 | 11233 | OMIM:182601 | Spastic paraplegia 4, autosomal dominant | . | | | 208 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | SPG11 CL E G H | 80208 | 11226 | OMIM:602099 | Amyotrophic lateral sclerosis 5, juvenile | | | | 287 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | SPG11 CL E G H | 80208 | 11226 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 287 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | SPG11 CL E G H | 80208 | 11226 | OMIM:604360 | Spastic paraplegia 11, autosomal recessive | . | | | 287 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | SPG7 CL E G H | 6687 | 11237 | OMIM:607259 | Spastic paraplegia 7, autosomal recessive | . | | | 171 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | SPTLC1 CL E G H | 10558 | 11277 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 54 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | SQSTM1 CL E G H | 8878 | 11280 | OMIM:617145 | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | HP:0040283 - Occasional | | | 62 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | STUB1 CL E G H | 10273 | 11427 | OMIM:618093 | SPINOCEREBELLAR ATAXIA 48; SCA48 | | | | 14 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | SUFU CL E G H | 51684 | 16466 | ORPHA:2495 | Meningioma | HP:0040284 - Very rare | | | 124 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:88644 | Autosomal recessive ataxia, Beauce type | HP:0040283 - Occasional | | | 1129 | | |
HP:0031058 | HP:0002607 | Bowel incontinence | 2 | TBCD CL E G H | 6904 | 11581 | ORPHA:496641 | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | HP:0040284 - Very rare | | | 16 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | TBCD CL E G H | 6904 | 11581 | ORPHA:496641 | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0031058 | HP:0002607 | Bowel incontinence | 2 | TBCD CL E G H | 6904 | 11581 | OMIM:617193 | ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT | | | | 16 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | TBCD CL E G H | 6904 | 11581 | OMIM:617193 | ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT | | | | 16 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | TBP CL E G H | 6908 | 11588 | OMIM:607136 | Spinocerebellar ataxia 17 | . | | | 7 | | |
HP:0031058 | HP:0002607 | Bowel incontinence | 2 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 32 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | TBXT CL E G H | 6862 | 11515 | OMIM:182940 | Neural tube defects, susceptibility to | . | | | | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | TERT CL E G H | 7015 | 11730 | ORPHA:2495 | Meningioma | HP:0040284 - Very rare | | | 238 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | TIMM50 CL E G H | 92609 | 23656 | ORPHA:505216 | 3-methylglutaconic aciduria type 9 | HP:0040283 - Occasional | | | 1 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | TIMM50 CL E G H | 92609 | 23656 | OMIM:617698 | 3-methylglutaconic aciduria, type IX | HP:0040284 - Very rare | | | 1 | | |
HP:0031058 | HP:0002607 | Bowel incontinence | 2 | TP63 CL E G H | 8626 | 15979 | ORPHA:93930 | Bladder exstrophy | HP:0040283 - Occasional | | | 140 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | TRAF7 CL E G H | 84231 | 20456 | ORPHA:2495 | Meningioma | HP:0040284 - Very rare | | | | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | TRIO CL E G H | 7204 | 12303 | ORPHA:476126 | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | TRPV4 CL E G H | 59341 | 18083 | OMIM:606071 | Hereditary motor and sensory neuropathy, type IIC | . | | | 214 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | TTR CL E G H | 7276 | 12405 | OMIM:105210 | Amyloidosis, hereditary, transthyretin-related | . | | | 107 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | TYROBP CL E G H | 7305 | 12449 | OMIM:221770 | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | . | | | 22 | | |
HP:0031058 | HP:0002607 | Bowel incontinence | 2 | UBAP1 CL E G H | 51271 | 12461 | ORPHA:100993 | Autosomal dominant spastic paraplegia type 12 | HP:0040283 - Occasional | | | | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | UBAP1 CL E G H | 51271 | 12461 | ORPHA:100993 | Autosomal dominant spastic paraplegia type 12 | HP:0040282 - Frequent | | | | | |
HP:0031058 | HP:0002607 | Bowel incontinence | 2 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0031058 | HP:0002607 | Bowel incontinence | 2 | VANGL1 CL E G H | 81839 | 15512 | ORPHA:3027 | Caudal regression sequence | HP:0040281 - Very frequent | | | 111 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | VANGL1 CL E G H | 81839 | 15512 | OMIM:182940 | Neural tube defects, susceptibility to | . | | | 111 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | VANGL2 CL E G H | 57216 | 15511 | OMIM:182940 | Neural tube defects, susceptibility to | . | | | 2 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | VCP CL E G H | 7415 | 12666 | ORPHA:329478 | Adult-onset distal myopathy due to VCP mutation | HP:0040283 - Occasional | | | 63 | | |
HP:0031058 | HP:0002607 | Bowel incontinence | 2 | VCP CL E G H | 7415 | 12666 | ORPHA:329478 | Adult-onset distal myopathy due to VCP mutation | HP:0040283 - Occasional | | | 63 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | WASHC5 CL E G H | 9897 | 28984 | ORPHA:100989 | Autosomal dominant spastic paraplegia type 8 | HP:0040282 - Frequent | | | 83 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | WASHC5 CL E G H | 9897 | 28984 | OMIM:603563 | Spastic paraplegia 8, autosomal dominant | . | | | 83 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | ZC4H2 CL E G H | 55906 | 24931 | OMIM:301041 | WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR | | | | 19 | | |
HP:0031058 | HP:0002607 | Bowel incontinence | 2 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261552 | Mowat-Wilson syndrome due to a ZEB2 point mutation | HP:0040282 - Frequent | | | 362 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261552 | Mowat-Wilson syndrome due to a ZEB2 point mutation | HP:0040282 - Frequent | | | 362 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261537 | Mowat-Wilson syndrome due to monosomy 2q22 | HP:0040282 - Frequent | | | 362 | | |
HP:0031058 | HP:0002607 | Bowel incontinence | 2 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261537 | Mowat-Wilson syndrome due to monosomy 2q22 | HP:0040282 - Frequent | | | 362 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | ZFYVE26 CL E G H | 23503 | 20761 | OMIM:270700 | Spastic paraplegia 15, autosomal recessive | . | | | 189 | | |
HP:0031058 | HP:0002607 | Bowel incontinence | 2 | ZFYVE26 CL E G H | 23503 | 20761 | OMIM:270700 | Spastic paraplegia 15, autosomal recessive | . | | | 189 | | |
HP:0031058 | HP:0000020 | Urinary incontinence | 2 | ZMYM2 CL E G H | 7750 | 12989 | OMIM:619522 | NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC | | | | | | |
HP:0031058 | HP:0040183 | Encopresis | 3 | DMPK CL E G H | 1760 | 2933 | ORPHA:589821 | Congenital-onset Steinert myotonic dystrophy | | | | 152 | | |
HP:0031058 | HP:0040183 | Encopresis | 3 | MAPK8IP3 CL E G H | 23162 | 6884 | OMIM:618443 | Neurodevelopmental disorder with or without variable brain abnormalities | | | | | | |
HP:0031058 | HP:0010992 | Stress urinary incontinence | 3 | NOTCH3 CL E G H | 4854 | 7883 | ORPHA:136 | Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy | HP:0040283 - Occasional | | | 144 | | |