Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | AAAS CL E G H | 8086 | 13666 | OMIM:231550 | Achalasia-Addisonianism-Alacrima syndrome | . | | | 57 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | ACOX1 CL E G H | 51 | 119 | OMIM:618960 | MITCHELL SYNDROME; MITCH | | | | 120 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | ADH1C CL E G H | 126 | 251 | OMIM:168600 | Parkinson disease, late-onset | HP:0040283 - Occasional | | | 4 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | AKAP9 CL E G H | 10142 | 379 | ORPHA:101016 | Romano-Ward syndrome | HP:0040283 - Occasional | | | 289 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | ANK2 CL E G H | 287 | 493 | ORPHA:101016 | Romano-Ward syndrome | HP:0040283 - Occasional | | | 539 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | ARSA CL E G H | 410 | 713 | ORPHA:309271 | Metachromatic leukodystrophy, adult form | | | | 253 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | ASCL1 CL E G H | 429 | 738 | ORPHA:99803 | Haddad syndrome | HP:0040281 - Very frequent | | | 15 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | ATP1A2 CL E G H | 477 | 800 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040282 - Frequent | | | 239 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | ATP1A3 CL E G H | 478 | 801 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040282 - Frequent | | | 150 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | ATP7A CL E G H | 538 | 869 | OMIM:304150 | Occipital horn syndrome | | | | 192 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | ATXN2 CL E G H | 6311 | 10555 | OMIM:168600 | Parkinson disease, late-onset | HP:0040283 - Occasional | | | 11 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | ATXN3 CL E G H | 4287 | 7106 | OMIM:109150 | Machado-Joseph disease | HP:0040283 - Occasional | | | 14 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | ATXN8OS CL E G H | 6315 | 10561 | OMIM:168600 | Parkinson disease, late-onset | HP:0040283 - Occasional | | | 1 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | B2M CL E G H | 567 | 914 | ORPHA:314652 | Variant ABeta2M amyloidosis | HP:0040283 - Occasional | | | 8 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | BRAT1 CL E G H | 221927 | 21701 | OMIM:614498 | Rigidity and multifocal seizure syndrome, lethal neonatal | . | | | 20 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | CACNA1A CL E G H | 773 | 1388 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040282 - Frequent | | | 449 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | CACNA1C CL E G H | 775 | 1390 | ORPHA:101016 | Romano-Ward syndrome | HP:0040283 - Occasional | | | 572 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | CALM1 CL E G H | 801 | 1442 | ORPHA:101016 | Romano-Ward syndrome | HP:0040283 - Occasional | | | 18 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | CALM2 CL E G H | 805 | 1445 | ORPHA:101016 | Romano-Ward syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | CALM3 CL E G H | 808 | 1449 | ORPHA:101016 | Romano-Ward syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | CAV1 CL E G H | 857 | 1527 | OMIM:606721 | Lipodystrophy, familial partial, type 7 | | | | 11 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | CAV3 CL E G H | 859 | 1529 | ORPHA:101016 | Romano-Ward syndrome | HP:0040283 - Occasional | | | 148 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | CCT5 CL E G H | 22948 | 1618 | ORPHA:139578 | Mutilating hereditary sensory neuropathy with spastic paraplegia | HP:0040281 - Very frequent | | | 56 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | CHCHD2 CL E G H | 51142 | 21645 | OMIM:616710 | Parkinson disease 22, autosomal dominant | | | | 3 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | CHRNA3 CL E G H | 1136 | 1957 | OMIM:191800 | URINARY BLADDER, ATONY OF | | | | 4 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | CISD2 CL E G H | 493856 | 24212 | ORPHA:3463 | Wolfram syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | COL1A1 CL E G H | 1277 | 2197 | ORPHA:287 | Classical Ehlers-Danlos syndrome | | | | 373 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | COL25A1 CL E G H | 84570 | 18603 | ORPHA:91411 | Congenital ptosis | | | | 3 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | COL5A1 CL E G H | 1289 | 2209 | ORPHA:287 | Classical Ehlers-Danlos syndrome | | | | 660 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | COL5A2 CL E G H | 1290 | 2210 | ORPHA:287 | Classical Ehlers-Danlos syndrome | | | | 325 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | COQ2 CL E G H | 27235 | 25223 | OMIM:146500 | Multiple system atrophy 1, susceptibility to | . | | | 54 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | COQ2 CL E G H | 27235 | 25223 | ORPHA:227510 | Multiple system atrophy, cerebellar type | HP:0040282 - Frequent | | | 54 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | COQ2 CL E G H | 27235 | 25223 | ORPHA:98933 | Multiple system atrophy, parkinsonian type | HP:0040282 - Frequent | | | 54 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | CYB561 CL E G H | 1534 | 2571 | OMIM:618182 | Orthostatic hypotension 2 | | | | | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | CYP11B2 CL E G H | 1585 | 2592 | ORPHA:556030 | Early-onset familial hypoaldosteronism | | | | 73 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | CYP11B2 CL E G H | 1585 | 2592 | OMIM:610600 | Hypoaldosteronism, congenital, due to CMO II deficiency | | | | 73 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | DBH CL E G H | 1621 | 2689 | ORPHA:230 | Dopamine beta-hydroxylase deficiency | | | | 80 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | DBH CL E G H | 1621 | 2689 | OMIM:223360 | Dopamine beta-hydroxylase deficiency, congenital | | | | 80 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | DEPDC5 CL E G H | 9681 | 18423 | ORPHA:101046 | Autosomal dominant epilepsy with auditory features | HP:0040283 - Occasional | | | 172 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | DNAJC13 CL E G H | 23317 | 30343 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | 2 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | DNAJC6 CL E G H | 9829 | 15469 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040283 - Occasional | | | 6 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | ECE1 CL E G H | 1889 | 3146 | OMIM:613870 | Hirschsprung disease, cardiac defects, and autonomic dysfunction | . | | | 13 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | EIF4G1 CL E G H | 1981 | 3296 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | 2 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | ELP1 CL E G H | 8518 | 5959 | ORPHA:1764 | Familial dysautonomia | | | | 133 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | ELP1 CL E G H | 8518 | 5959 | OMIM:223900 | Neuropathy, hereditary sensory and autonomic, type III | | | | 133 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | ERBB3 CL E G H | 2065 | 3431 | OMIM:243180 | Visceral neuropathy, familial, autosomal recessive | | | | 12 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | FBXO7 CL E G H | 25793 | 13586 | ORPHA:171695 | Parkinsonian-pyramidal syndrome | HP:0040282 - Frequent | | | 36 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | FMR1 CL E G H | 2332 | 3775 | ORPHA:93256 | Fragile X-associated tremor/ataxia syndrome | HP:0040282 - Frequent | | | 30 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | GABBR2 CL E G H | 9568 | 4507 | OMIM:617903 | Neurodevelopmental disorder with poor language and loss of hand skills | . | | | 5 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:168600 | Parkinson disease, late-onset | HP:0040283 - Occasional | | | | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | GBE1 CL E G H | 2632 | 4180 | OMIM:263570 | Polyglucosan body neuropathy, adult form | | | | 86 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | GFAP CL E G H | 2670 | 4235 | ORPHA:363722 | Alexander disease type II | | | | 188 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | GIGYF2 CL E G H | 26058 | 11960 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | 8 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | GLA CL E G H | 2717 | 4296 | OMIM:301500 | Fabry disease | . | | | 291 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | GLUD2 CL E G H | 2747 | 4336 | OMIM:168600 | Parkinson disease, late-onset | HP:0040283 - Occasional | | | 1 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | GMPPA CL E G H | 29926 | 22923 | OMIM:615510 | Alacrima, achalasia, and mental retardation syndrome | . | | | 24 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | GSN CL E G H | 2934 | 4620 | ORPHA:85448 | AGel amyloidosis | | | | 53 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | HEXB CL E G H | 3074 | 4879 | OMIM:268800 | Sandhoff disease | | | | 80 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | HTRA2 CL E G H | 27429 | 14348 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040283 - Occasional | | | 39 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | IL12A CL E G H | 3592 | 5969 | ORPHA:186 | Primary biliary cholangitis | | | | | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | IL12RB1 CL E G H | 3594 | 5971 | ORPHA:186 | Primary biliary cholangitis | | | | 46 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | IRF5 CL E G H | 3663 | 6120 | ORPHA:186 | Primary biliary cholangitis | | | | 4 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | KCNE1 CL E G H | 3753 | 6240 | ORPHA:101016 | Romano-Ward syndrome | HP:0040283 - Occasional | | | 148 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | KCNE2 CL E G H | 9992 | 6242 | ORPHA:101016 | Romano-Ward syndrome | HP:0040283 - Occasional | | | 43 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | KCNH2 CL E G H | 3757 | 6251 | ORPHA:101016 | Romano-Ward syndrome | HP:0040283 - Occasional | | | 901 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | KCNJ5 CL E G H | 3762 | 6266 | ORPHA:101016 | Romano-Ward syndrome | HP:0040283 - Occasional | | | 128 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | KCNQ1 CL E G H | 3784 | 6294 | ORPHA:101016 | Romano-Ward syndrome | HP:0040283 - Occasional | | | 730 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | KIF1B CL E G H | 23095 | 16636 | OMIM:256700 | Neuroblastoma, susceptibility to | | | | 202 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | LEP CL E G H | 3952 | 6553 | ORPHA:66628 | Obesity due to congenital leptin deficiency | | | | 47 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | LEPR CL E G H | 3953 | 6554 | ORPHA:179494 | Obesity due to leptin receptor gene deficiency | | | | 46 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | LGI1 CL E G H | 9211 | 6572 | ORPHA:101046 | Autosomal dominant epilepsy with auditory features | HP:0040283 - Occasional | | | 75 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | LIFR CL E G H | 3977 | 6597 | ORPHA:3206 | Stüve-Wiedemann syndrome | HP:0040281 - Very frequent | | | 144 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | LIFR CL E G H | 3977 | 6597 | OMIM:601559 | Stuve-Wiedemann syndrome | . | | | 144 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | LMNB1 CL E G H | 4001 | 6637 | ORPHA:99027 | Adult-onset autosomal dominant leukodystrophy | HP:0040281 - Very frequent | | | 44 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | LMNB1 CL E G H | 4001 | 6637 | OMIM:169500 | Leukodystrophy, adult-onset, autosomal dominant | | | | 44 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | LRRK2 CL E G H | 120892 | 18618 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | 221 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | LRRK2 CL E G H | 120892 | 18618 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040283 - Occasional | | | 221 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | MAPT CL E G H | 4137 | 6893 | OMIM:168600 | Parkinson disease, late-onset | HP:0040283 - Occasional | | | 140 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | MECP2 CL E G H | 4204 | 6990 | ORPHA:778 | Rett syndrome | HP:0040283 - Occasional | | | 950 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | MMEL1 CL E G H | 79258 | 14668 | ORPHA:186 | Primary biliary cholangitis | | | | | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | NOS1AP CL E G H | 9722 | 16859 | ORPHA:101016 | Romano-Ward syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | NR4A2 CL E G H | 4929 | 7981 | OMIM:168600 | Parkinson disease, late-onset | HP:0040283 - Occasional | | | 27 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | NTRK1 CL E G H | 4914 | 8031 | ORPHA:642 | Hereditary sensory and autonomic neuropathy type 4 | | | | 97 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | NTRK1 CL E G H | 4914 | 8031 | OMIM:256800 | Insensitivity to pain, congenital, with anhidrosis | . | | | 97 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | PARK7 CL E G H | 11315 | 16369 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040283 - Occasional | | | 23 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | PHOX2B CL E G H | 8929 | 9143 | OMIM:209880 | Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease | | | | 86 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | PHOX2B CL E G H | 8929 | 9143 | ORPHA:99803 | Haddad syndrome | HP:0040281 - Very frequent | | | 86 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | PINK1 CL E G H | 65018 | 14581 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040283 - Occasional | | | 55 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | PLA2G6 CL E G H | 8398 | 9039 | ORPHA:35069 | Infantile neuroaxonal dystrophy | HP:0040283 - Occasional | | | 133 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | PODXL CL E G H | 5420 | 9171 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040283 - Occasional | | | 6 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | POLR3A CL E G H | 11128 | 30074 | ORPHA:447896 | Tremor-ataxia-central hypomyelination syndrome | | | | 138 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | POU2AF1 CL E G H | 5450 | 9211 | ORPHA:186 | Primary biliary cholangitis | | | | | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | PPOX CL E G H | 5498 | 9280 | ORPHA:79473 | Porphyria variegata | HP:0040283 - Occasional | | | 41 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | PRKN CL E G H | 5071 | 8607 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040283 - Occasional | | | 138 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | PRNP CL E G H | 5621 | 9449 | OMIM:600072 | Fatal familial insomnia | . | | | 69 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | PRNP CL E G H | 5621 | 9449 | ORPHA:282166 | Inherited Creutzfeldt-Jakob disease | HP:0040282 - Frequent | | | 69 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | PSAP CL E G H | 5660 | 9498 | ORPHA:309271 | Metachromatic leukodystrophy, adult form | | | | 81 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | RELN CL E G H | 5649 | 9957 | ORPHA:101046 | Autosomal dominant epilepsy with auditory features | HP:0040283 - Occasional | | | 334 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | RET CL E G H | 5979 | 9967 | ORPHA:99803 | Haddad syndrome | HP:0040281 - Very frequent | | | 572 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | RFC1 CL E G H | 5981 | 9969 | OMIM:614575 | Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome | | | | | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | SCN10A CL E G H | 6336 | 10582 | ORPHA:101016 | Romano-Ward syndrome | HP:0040283 - Occasional | | | 146 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | SCN11A CL E G H | 11280 | 10583 | OMIM:615552 | Episodic pain syndrome, familial, 3 | HP:0040282 - Frequent | | | 19 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | SCN11A CL E G H | 11280 | 10583 | OMIM:615548 | Neuropathy, hereditary sensory and autonomic, type VII | . | | | 19 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | SCN3A CL E G H | 6328 | 10590 | OMIM:617935 | Epilepsy, familial focal, with variable foci 4 | . | | | 70 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | SCN4B CL E G H | 6330 | 10592 | ORPHA:101016 | Romano-Ward syndrome | HP:0040283 - Occasional | | | 110 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | SCN5A CL E G H | 6331 | 10593 | ORPHA:101016 | Romano-Ward syndrome | HP:0040283 - Occasional | | | 1134 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | SCN9A CL E G H | 6335 | 10597 | OMIM:133020 | Erythermalgia, primary | HP:0040283 - Occasional | | | 318 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | SIM1 CL E G H | 6492 | 10882 | ORPHA:369873 | Obesity due to SIM1 deficiency | HP:0040281 - Very frequent | | | 40 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | SLC18A2 CL E G H | 6571 | 10935 | OMIM:618049 | Parkinsonism-Dystonia, infantile, 2 | . | | | 2 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | SLC1A3 CL E G H | 6507 | 10941 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040282 - Frequent | | | 63 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | SLC6A2 CL E G H | 6530 | 11048 | OMIM:604715 | ORTHOSTATIC INTOLERANCE | | | | 60 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | SNCA CL E G H | 6622 | 11138 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | 65 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | SNCA CL E G H | 6622 | 11138 | OMIM:605543 | Parkinson disease 4 | . | | | 65 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | SNCA CL E G H | 6622 | 11138 | ORPHA:171695 | Parkinsonian-pyramidal syndrome | HP:0040282 - Frequent | | | 65 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | SNCA CL E G H | 6622 | 11138 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040283 - Occasional | | | 65 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | SNCAIP CL E G H | 9627 | 11139 | OMIM:168600 | Parkinson disease, late-onset | HP:0040283 - Occasional | | | 35 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | SNTA1 CL E G H | 6640 | 11167 | ORPHA:101016 | Romano-Ward syndrome | HP:0040283 - Occasional | | | 118 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | SOX10 CL E G H | 6663 | 11190 | OMIM:609136 | Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease | . | | | 61 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | SPG11 CL E G H | 80208 | 11226 | ORPHA:2822 | Autosomal recessive spastic paraplegia type 11 | | | | 287 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | SPIB CL E G H | 6689 | 11242 | ORPHA:186 | Primary biliary cholangitis | | | | | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | SYNJ1 CL E G H | 8867 | 11503 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040283 - Occasional | | | 9 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | TBP CL E G H | 6908 | 11588 | OMIM:168600 | Parkinson disease, late-onset | HP:0040283 - Occasional | | | 7 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | TBX5 CL E G H | 6910 | 11604 | ORPHA:101016 | Romano-Ward syndrome | HP:0040283 - Occasional | | | 123 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | TNFSF15 CL E G H | 9966 | 11931 | ORPHA:186 | Primary biliary cholangitis | | | | | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | TNPO3 CL E G H | 23534 | 17103 | ORPHA:186 | Primary biliary cholangitis | | | | 71 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | TRDN CL E G H | 10345 | 12261 | ORPHA:101016 | Romano-Ward syndrome | HP:0040283 - Occasional | | | 145 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | TRNT CL E G H | 4576 | 7499 | OMIM:168600 | Parkinson disease, late-onset | HP:0040283 - Occasional | | | | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | TSPYL1 CL E G H | 7259 | 12382 | ORPHA:168593 | Sudden infant death-dysgenesis of the testes syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | TTR CL E G H | 7276 | 12405 | OMIM:105210 | Amyloidosis, hereditary, transthyretin-related | . | | | 107 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | TTR CL E G H | 7276 | 12405 | ORPHA:85451 | ATTRV122I amyloidosis | | | | 107 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | TTR CL E G H | 7276 | 12405 | ORPHA:85447 | ATTRV30M amyloidosis | HP:0040282 - Frequent | | | 107 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | TUBB3 CL E G H | 10381 | 20772 | ORPHA:300570 | Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation | HP:0040283 - Occasional | | | 64 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | TXN2 CL E G H | 25828 | 17772 | ORPHA:478029 | Combined oxidative phosphorylation defect type 29 | HP:0040281 - Very frequent | | | 1 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | UCHL1 CL E G H | 7345 | 12513 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040283 - Occasional | | | 21 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | VPS11 CL E G H | 55823 | 14583 | OMIM:616683 | Leukodystrophy, hypomyelinating, 12 | . | | | 1 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | VPS11 CL E G H | 55823 | 14583 | ORPHA:466934 | VPS11-related autosomal recessive hypomyelinating leukodystrophy | HP:0040282 - Frequent | | | 1 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | VPS13A CL E G H | 23230 | 1908 | ORPHA:2388 | Choreoacanthocytosis | HP:0040284 - Very rare | | | 130 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | VPS13C CL E G H | 54832 | 23594 | OMIM:616840 | Parkinson disease 23, autosomal recessive early-onset | | | | 8 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | VPS13C CL E G H | 54832 | 23594 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040283 - Occasional | | | 8 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | VPS35 CL E G H | 55737 | 13487 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | 37 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | WDR45 CL E G H | 11152 | 28912 | ORPHA:329284 | Beta-propeller protein-associated neurodegeneration | HP:0040282 - Frequent | | | 51 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | WDR45 CL E G H | 11152 | 28912 | OMIM:300894 | Neurodegeneration with brain iron accumulation 5 | . | | | 51 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | WFS1 CL E G H | 7466 | 12762 | ORPHA:3463 | Wolfram syndrome | HP:0040283 - Occasional | | | 389 | | |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | ZFHX4 CL E G H | 79776 | 30939 | ORPHA:91411 | Congenital ptosis | | | | | | |
HP:0012332 | HP:0012333 | Abnormal sudomotor regulation | 1 | CL E G H | | | | | | | | | | |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | AAAS CL E G H | 8086 | 13666 | OMIM:231550 | Achalasia-Addisonianism-Alacrima syndrome | . | | | 57 | | |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | ARSA CL E G H | 410 | 713 | ORPHA:309271 | Metachromatic leukodystrophy, adult form | | | | 253 | | |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | ATP7A CL E G H | 538 | 869 | OMIM:304150 | Occipital horn syndrome | . | | | 192 | | |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | CAV1 CL E G H | 857 | 1527 | OMIM:606721 | Lipodystrophy, familial partial, type 7 | . | | | 11 | | |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | CHCHD2 CL E G H | 51142 | 21645 | OMIM:616710 | Parkinson disease 22, autosomal dominant | . | | | 3 | | |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | CHRNA3 CL E G H | 1136 | 1957 | OMIM:191800 | URINARY BLADDER, ATONY OF | | | | 4 | | |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | COL1A1 CL E G H | 1277 | 2197 | ORPHA:287 | Classical Ehlers-Danlos syndrome | HP:0040284 - Very rare | | | 373 | | |
HP:0012332 | HP:0002277 | Horner syndrome | 1 | COL25A1 CL E G H | 84570 | 18603 | ORPHA:91411 | Congenital ptosis | | | | 3 | | |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | COL5A1 CL E G H | 1289 | 2209 | ORPHA:287 | Classical Ehlers-Danlos syndrome | HP:0040284 - Very rare | | | 660 | | |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | COL5A2 CL E G H | 1290 | 2210 | ORPHA:287 | Classical Ehlers-Danlos syndrome | HP:0040284 - Very rare | | | 325 | | |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | COQ2 CL E G H | 27235 | 25223 | OMIM:146500 | Multiple system atrophy 1, susceptibility to | . | | | 54 | | |
HP:0012332 | HP:0008652 | Autonomic erectile dysfunction | 1 | COQ2 CL E G H | 27235 | 25223 | ORPHA:227510 | Multiple system atrophy, cerebellar type | HP:0040282 - Frequent | | | 54 | | |
HP:0012332 | HP:0005341 | Autonomic bladder dysfunction | 1 | COQ2 CL E G H | 27235 | 25223 | ORPHA:227510 | Multiple system atrophy, cerebellar type | HP:0040282 - Frequent | | | 54 | | |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | COQ2 CL E G H | 27235 | 25223 | ORPHA:227510 | Multiple system atrophy, cerebellar type | | | | 54 | | |
HP:0012332 | HP:0008652 | Autonomic erectile dysfunction | 1 | COQ2 CL E G H | 27235 | 25223 | ORPHA:98933 | Multiple system atrophy, parkinsonian type | HP:0040282 - Frequent | | | 54 | | |
HP:0012332 | HP:0005341 | Autonomic bladder dysfunction | 1 | COQ2 CL E G H | 27235 | 25223 | ORPHA:98933 | Multiple system atrophy, parkinsonian type | HP:0040282 - Frequent | | | 54 | | |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | COQ2 CL E G H | 27235 | 25223 | ORPHA:98933 | Multiple system atrophy, parkinsonian type | | | | 54 | | |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | CYB561 CL E G H | 1534 | 2571 | OMIM:618182 | Orthostatic hypotension 2 | . | | | | | |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | CYP11B2 CL E G H | 1585 | 2592 | ORPHA:556030 | Early-onset familial hypoaldosteronism | HP:0040282 - Frequent | | | 73 | | |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | CYP11B2 CL E G H | 1585 | 2592 | OMIM:610600 | Hypoaldosteronism, congenital, due to CMO II deficiency | . | | | 73 | | |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | DBH CL E G H | 1621 | 2689 | ORPHA:230 | Dopamine beta-hydroxylase deficiency | HP:0040281 - Very frequent | | | 80 | | |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | DBH CL E G H | 1621 | 2689 | OMIM:223360 | Dopamine beta-hydroxylase deficiency, congenital | . | | | 80 | | |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | DNAJC13 CL E G H | 23317 | 30343 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | 2 | | |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | EIF4G1 CL E G H | 1981 | 3296 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | 2 | | |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | ELP1 CL E G H | 8518 | 5959 | ORPHA:1764 | Familial dysautonomia | HP:0040281 - Very frequent | | | 133 | | |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | ELP1 CL E G H | 8518 | 5959 | OMIM:223900 | Neuropathy, hereditary sensory and autonomic, type III | . | | | 133 | | |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | GBA1 CL E G H | 2629 | 4177 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | | | |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | GBE1 CL E G H | 2632 | 4180 | OMIM:263570 | Polyglucosan body neuropathy, adult form | HP:0040283 - Occasional | | | 86 | | |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | GIGYF2 CL E G H | 26058 | 11960 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | 8 | | |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | GMPPA CL E G H | 29926 | 22923 | OMIM:615510 | Alacrima, achalasia, and mental retardation syndrome | HP:0040283 - Occasional | | | 24 | | |
HP:0012332 | HP:0002277 | Horner syndrome | 1 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | GSN CL E G H | 2934 | 4620 | ORPHA:85448 | AGel amyloidosis | | | | 53 | | |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | HEXB CL E G H | 3074 | 4879 | OMIM:268800 | Sandhoff disease | . | | | 80 | | |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | IL12A CL E G H | 3592 | 5969 | ORPHA:186 | Primary biliary cholangitis | HP:0040282 - Frequent | | | | | |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | IL12RB1 CL E G H | 3594 | 5971 | ORPHA:186 | Primary biliary cholangitis | HP:0040282 - Frequent | | | 46 | | |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | IRF5 CL E G H | 3663 | 6120 | ORPHA:186 | Primary biliary cholangitis | HP:0040282 - Frequent | | | 4 | | |
HP:0012332 | HP:0002277 | Horner syndrome | 1 | KIF1B CL E G H | 23095 | 16636 | OMIM:256700 | Neuroblastoma, susceptibility to | . | | | 202 | | |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | LEP CL E G H | 3952 | 6553 | ORPHA:66628 | Obesity due to congenital leptin deficiency | | | | 47 | | |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | LEPR CL E G H | 3953 | 6554 | ORPHA:179494 | Obesity due to leptin receptor gene deficiency | | | | 46 | | |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | LMNB1 CL E G H | 4001 | 6637 | ORPHA:99027 | Adult-onset autosomal dominant leukodystrophy | HP:0040283 - Occasional | | | 44 | | |
HP:0012332 | HP:0005341 | Autonomic bladder dysfunction | 1 | LMNB1 CL E G H | 4001 | 6637 | ORPHA:99027 | Adult-onset autosomal dominant leukodystrophy | HP:0040282 - Frequent | | | 44 | | |
HP:0012332 | HP:0005341 | Autonomic bladder dysfunction | 1 | LMNB1 CL E G H | 4001 | 6637 | OMIM:169500 | Leukodystrophy, adult-onset, autosomal dominant | | | | 44 | | |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | LMNB1 CL E G H | 4001 | 6637 | OMIM:169500 | Leukodystrophy, adult-onset, autosomal dominant | | | | 44 | | |
HP:0012332 | HP:0008652 | Autonomic erectile dysfunction | 1 | LMNB1 CL E G H | 4001 | 6637 | OMIM:169500 | Leukodystrophy, adult-onset, autosomal dominant | | | | 44 | | |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | LRRK2 CL E G H | 120892 | 18618 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | 221 | | |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | MMEL1 CL E G H | 79258 | 14668 | ORPHA:186 | Primary biliary cholangitis | HP:0040282 - Frequent | | | | | |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | NTRK1 CL E G H | 4914 | 8031 | ORPHA:642 | Hereditary sensory and autonomic neuropathy type 4 | | | | 97 | | |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | NTRK1 CL E G H | 4914 | 8031 | OMIM:256800 | Insensitivity to pain, congenital, with anhidrosis | | | | 97 | | |
HP:0012332 | HP:0005341 | Autonomic bladder dysfunction | 1 | POLR3A CL E G H | 11128 | 30074 | ORPHA:447896 | Tremor-ataxia-central hypomyelination syndrome | HP:0040282 - Frequent | | | 138 | | |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | POU2AF1 CL E G H | 5450 | 9211 | ORPHA:186 | Primary biliary cholangitis | HP:0040282 - Frequent | | | | | |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | PSAP CL E G H | 5660 | 9498 | ORPHA:309271 | Metachromatic leukodystrophy, adult form | | | | 81 | | |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | SIM1 CL E G H | 6492 | 10882 | ORPHA:369873 | Obesity due to SIM1 deficiency | | | | 40 | | |
HP:0012332 | HP:0012173 | Orthostatic tachycardia | 1 | SLC6A2 CL E G H | 6530 | 11048 | OMIM:604715 | ORTHOSTATIC INTOLERANCE | | | | 60 | | |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | SNCA CL E G H | 6622 | 11138 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | 65 | | |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | SNCA CL E G H | 6622 | 11138 | OMIM:605543 | Parkinson disease 4 | . | | | 65 | | |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | SPG11 CL E G H | 80208 | 11226 | ORPHA:2822 | Autosomal recessive spastic paraplegia type 11 | HP:0040283 - Occasional | | | 287 | | |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | SPIB CL E G H | 6689 | 11242 | ORPHA:186 | Primary biliary cholangitis | HP:0040282 - Frequent | | | | | |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | TNFSF15 CL E G H | 9966 | 11931 | ORPHA:186 | Primary biliary cholangitis | HP:0040282 - Frequent | | | | | |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | TNPO3 CL E G H | 23534 | 17103 | ORPHA:186 | Primary biliary cholangitis | HP:0040282 - Frequent | | | 71 | | |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | TTR CL E G H | 7276 | 12405 | OMIM:105210 | Amyloidosis, hereditary, transthyretin-related | | | | 107 | | |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | VPS35 CL E G H | 55737 | 13487 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | 37 | | |
HP:0012332 | HP:0002277 | Horner syndrome | 1 | ZFHX4 CL E G H | 79776 | 30939 | ORPHA:91411 | Congenital ptosis | | | | | | |
HP:0012332 | HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | 2 | ARSA CL E G H | 410 | 713 | ORPHA:309271 | Metachromatic leukodystrophy, adult form | HP:0040284 - Very rare | | | 253 | | |
HP:0012332 | HP:0006837 | Congenital Horner syndrome | 2 | COL25A1 CL E G H | 84570 | 18603 | ORPHA:91411 | Congenital ptosis | | | | 3 | | |
HP:0012332 | HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | 2 | COQ2 CL E G H | 27235 | 25223 | ORPHA:227510 | Multiple system atrophy, cerebellar type | HP:0040282 - Frequent | | | 54 | | |
HP:0012332 | HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | 2 | COQ2 CL E G H | 27235 | 25223 | ORPHA:98933 | Multiple system atrophy, parkinsonian type | HP:0040282 - Frequent | | | 54 | | |
HP:0012332 | HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | 2 | DNAJC13 CL E G H | 23317 | 30343 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 2 | | |
HP:0012332 | HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | 2 | EIF4G1 CL E G H | 1981 | 3296 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 2 | | |
HP:0012332 | HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | 2 | GBA1 CL E G H | 2629 | 4177 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | | | |
HP:0012332 | HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | 2 | GIGYF2 CL E G H | 26058 | 11960 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 8 | | |
HP:0012332 | HP:0006837 | Congenital Horner syndrome | 2 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0012332 | HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | 2 | GSN CL E G H | 2934 | 4620 | ORPHA:85448 | AGel amyloidosis | HP:0040283 - Occasional | | | 53 | | |
HP:0012332 | HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | 2 | LEP CL E G H | 3952 | 6553 | ORPHA:66628 | Obesity due to congenital leptin deficiency | HP:0040282 - Frequent | | | 47 | | |
HP:0012332 | HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | 2 | LEPR CL E G H | 3953 | 6554 | ORPHA:179494 | Obesity due to leptin receptor gene deficiency | HP:0040282 - Frequent | | | 46 | | |
HP:0012332 | HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | 2 | LMNB1 CL E G H | 4001 | 6637 | OMIM:169500 | Leukodystrophy, adult-onset, autosomal dominant | | | | 44 | | |
HP:0012332 | HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | 2 | LRRK2 CL E G H | 120892 | 18618 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 221 | | |
HP:0012332 | HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | 2 | NTRK1 CL E G H | 4914 | 8031 | ORPHA:642 | Hereditary sensory and autonomic neuropathy type 4 | HP:0040283 - Occasional | | | 97 | | |
HP:0012332 | HP:0005307 | Postural hypotension with compensatory tachycardia | 2 | NTRK1 CL E G H | 4914 | 8031 | OMIM:256800 | Insensitivity to pain, congenital, with anhidrosis | . | | | 97 | | |
HP:0012332 | HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | 2 | PSAP CL E G H | 5660 | 9498 | ORPHA:309271 | Metachromatic leukodystrophy, adult form | HP:0040284 - Very rare | | | 81 | | |
HP:0012332 | HP:0005307 | Postural hypotension with compensatory tachycardia | 2 | SIM1 CL E G H | 6492 | 10882 | ORPHA:369873 | Obesity due to SIM1 deficiency | HP:0040281 - Very frequent | | | 40 | | |
HP:0012332 | HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | 2 | SNCA CL E G H | 6622 | 11138 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 65 | | |
HP:0012332 | HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | 2 | TTR CL E G H | 7276 | 12405 | OMIM:105210 | Amyloidosis, hereditary, transthyretin-related | . | | | 107 | | |
HP:0012332 | HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | 2 | VPS35 CL E G H | 55737 | 13487 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 37 | | |
HP:0012332 | HP:0006837 | Congenital Horner syndrome | 2 | ZFHX4 CL E G H | 79776 | 30939 | ORPHA:91411 | Congenital ptosis | | | | | | |