Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
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HPO disease - gene - phenotype typical associations: |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | AAAS CL E G H | 8086 | 231550 | Glucocorticoid deficiency with achalasia | 231550 | C0271742 | OMIM | 1 | | 187 | 13666 | 605378 |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | ASCL1 CL E G H | 429 | 99803 | Haddad syndrome | | C1859587 | ORPHA | 1 | | 32 | 738 | 100790 |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | BRAT1 CL E G H | 221927 | 614498 | Rigidity and multifocal seizure syndrome, lethal neonatal | 614498 | C3281029 | OMIM | 1 | | 960 | 21701 | 614506 |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | CCT5 CL E G H | 22948 | 139578 | | | | ORPHA | 1 | | 314 | 1618 | 610150 |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | ECE1 CL E G H | 1889 | 613870 | Hirschsprung disease, cardiac defects, and autonomic dysfunction | 613870 | C3151237 | OMIM | 1 | | 49 | 3146 | 600423 |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | FBXO7 CL E G H | 25793 | 171695 | | | | ORPHA | 1 | | 191 | 13586 | 605648 |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | FMR1 CL E G H | 2332 | 93256 | | | | ORPHA | 1 | | 338 | 3775 | 309550 |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | GABBR2 CL E G H | 9568 | 617903 | NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS | 617903 | CN870852 | OMIM | 1 | | 682 | 4507 | 607340 |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | GLA CL E G H | 2717 | 301500 | Fabry disease | 301500 | C0002986 | OMIM | 1 | | 1002 | 4296 | 300644 |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | LIFR CL E G H | 3977 | 3206 | | | | ORPHA | 1 | | 721 | 6597 | 151443 |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | LIFR CL E G H | 3977 | 601559 | Stuve-Wiedemann syndrome | 601559 | C0796176 | OMIM | 1 | | 721 | 6597 | 151443 |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | PHOX2B CL E G H | 8929 | 99803 | Haddad syndrome | | C1859587 | ORPHA | 1 | | 840 | 9143 | 603851 |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | PRNP CL E G H | 5621 | 282166 | | | | ORPHA | 1 | | 164 | 9449 | 176640 |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | PRNP CL E G H | 5621 | 600072 | Fatal familial insomnia | 600072 | C0206042 | OMIM | 1 | | 164 | 9449 | 176640 |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | RET CL E G H | 5979 | 99803 | Haddad syndrome | | C1859587 | ORPHA | 1 | | 2692 | 9967 | 164761 |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | SCN11A CL E G H | 11280 | 615552 | Episodic pain syndrome, familial, 3 | 615552 | C3809899 | OMIM | 1 | | 1004 | 10583 | 604385 |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | SCN11A CL E G H | 11280 | 615548 | Neuropathy, hereditary sensory and autonomic, type VII | 615548 | C3809882 | OMIM | 1 | | 1004 | 10583 | 604385 |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | SCN3A CL E G H | 6328 | 617935 | EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4 | 617935 | CN244552 | OMIM | 1 | | 1096 | 10590 | 182391 |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | SCN9A CL E G H | 6335 | 243000 | Indifference to pain, congenital, autosomal recessive | 243000 | C1855739 | OMIM | 1 | | 1907 | 10597 | 603415 |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | SLC18A2 CL E G H | 6571 | 618049 | PARKINSONISM-DYSTONIA, INFANTILE, 2 | 618049 | CN248785 | OMIM | 1 | | 124 | 10935 | 193001 |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | SNCA CL E G H | 6622 | 171695 | | | | ORPHA | 1 | | 177 | 11138 | 163890 |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | SOX10 CL E G H | 6663 | 609136 | Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease | 609136 | C1836727 | OMIM | 1 | | 302 | 11190 | 602229 |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | TCF4 CL E G H | 6925 | 610954 | Pitt-Hopkins syndrome | 610954 | C1970431 | OMIM | 1 | | 913 | 11634 | 602272 |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | TSPYL1 CL E G H | 7259 | 168593 | | | | ORPHA | 1 | | 48 | 12382 | 604714 |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | TTR CL E G H | 7276 | 85447 | | | | ORPHA | 1 | | 341 | 12405 | 176300 |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | TXN2 CL E G H | 25828 | 478029 | | | | ORPHA | 1 | | 50 | 17772 | 609063 |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | VPS11 CL E G H | 55823 | 466934 | | | | ORPHA | 1 | | 139 | 14583 | 608549 |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | VPS11 CL E G H | 55823 | 616683 | Leukodystrophy, hypomyelinating, 12 | 616683 | C4225247 | OMIM | 1 | | 139 | 14583 | 608549 |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | WDR45 CL E G H | 11152 | 329284 | | | | ORPHA | 1 | | 504 | 28912 | 300526 |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | WDR45 CL E G H | 11152 | 300894 | Neurodegeneration with brain iron accumulation 5 | 300894 | C3550973 | OMIM | 1 | | 504 | 28912 | 300526 |
HP:0012332 | HP:0012173 | Orthostatic tachycardia | 1 | AAAS CL E G H | 8086 | 231550 | Glucocorticoid deficiency with achalasia | 231550 | C0271742 | OMIM | 1 | | 187 | 13666 | 605378 |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | AAAS CL E G H | 8086 | 231550 | Glucocorticoid deficiency with achalasia | 231550 | C0271742 | OMIM | 1 | | 187 | 13666 | 605378 |
HP:0012332 | HP:0002277 | Horner syndrome | 1 | AAAS CL E G H | 8086 | 231550 | Glucocorticoid deficiency with achalasia | 231550 | C0271742 | OMIM | 1 | | 187 | 13666 | 605378 |
HP:0012332 | HP:0005341 | Autonomic bladder dysfunction | 1 | AAAS CL E G H | 8086 | 231550 | Glucocorticoid deficiency with achalasia | 231550 | C0271742 | OMIM | 1 | | 187 | 13666 | 605378 |
HP:0012332 | HP:0012333 | Abnormal sudomotor regulation | 1 | AAAS CL E G H | 8086 | 231550 | Glucocorticoid deficiency with achalasia | 231550 | C0271742 | OMIM | 1 | | 187 | 13666 | 605378 |
HP:0012332 | HP:0008652 | Autonomic erectile dysfunction | 1 | AAAS CL E G H | 8086 | 231550 | Glucocorticoid deficiency with achalasia | 231550 | C0271742 | OMIM | 1 | | 187 | 13666 | 605378 |
HP:0012332 | HP:0012173 | Orthostatic tachycardia | 1 | ASCL1 CL E G H | 429 | 99803 | Haddad syndrome | | C1859587 | ORPHA | 1 | | 32 | 738 | 100790 |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | ASCL1 CL E G H | 429 | 99803 | Haddad syndrome | | C1859587 | ORPHA | 1 | | 32 | 738 | 100790 |
HP:0012332 | HP:0005341 | Autonomic bladder dysfunction | 1 | ASCL1 CL E G H | 429 | 99803 | Haddad syndrome | | C1859587 | ORPHA | 1 | | 32 | 738 | 100790 |
HP:0012332 | HP:0002277 | Horner syndrome | 1 | ASCL1 CL E G H | 429 | 99803 | Haddad syndrome | | C1859587 | ORPHA | 1 | | 32 | 738 | 100790 |
HP:0012332 | HP:0012333 | Abnormal sudomotor regulation | 1 | ASCL1 CL E G H | 429 | 99803 | Haddad syndrome | | C1859587 | ORPHA | 1 | | 32 | 738 | 100790 |
HP:0012332 | HP:0008652 | Autonomic erectile dysfunction | 1 | ASCL1 CL E G H | 429 | 99803 | Haddad syndrome | | C1859587 | ORPHA | 1 | | 32 | 738 | 100790 |
HP:0012332 | HP:0012333 | Abnormal sudomotor regulation | 1 | BRAT1 CL E G H | 221927 | 614498 | Rigidity and multifocal seizure syndrome, lethal neonatal | 614498 | C3281029 | OMIM | 1 | | 960 | 21701 | 614506 |
HP:0012332 | HP:0008652 | Autonomic erectile dysfunction | 1 | BRAT1 CL E G H | 221927 | 614498 | Rigidity and multifocal seizure syndrome, lethal neonatal | 614498 | C3281029 | OMIM | 1 | | 960 | 21701 | 614506 |
HP:0012332 | HP:0012173 | Orthostatic tachycardia | 1 | BRAT1 CL E G H | 221927 | 614498 | Rigidity and multifocal seizure syndrome, lethal neonatal | 614498 | C3281029 | OMIM | 1 | | 960 | 21701 | 614506 |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | BRAT1 CL E G H | 221927 | 614498 | Rigidity and multifocal seizure syndrome, lethal neonatal | 614498 | C3281029 | OMIM | 1 | | 960 | 21701 | 614506 |
HP:0012332 | HP:0005341 | Autonomic bladder dysfunction | 1 | BRAT1 CL E G H | 221927 | 614498 | Rigidity and multifocal seizure syndrome, lethal neonatal | 614498 | C3281029 | OMIM | 1 | | 960 | 21701 | 614506 |
HP:0012332 | HP:0002277 | Horner syndrome | 1 | BRAT1 CL E G H | 221927 | 614498 | Rigidity and multifocal seizure syndrome, lethal neonatal | 614498 | C3281029 | OMIM | 1 | | 960 | 21701 | 614506 |
HP:0012332 | HP:0012333 | Abnormal sudomotor regulation | 1 | CCT5 CL E G H | 22948 | 139578 | | | | ORPHA | 1 | | 314 | 1618 | 610150 |
HP:0012332 | HP:0008652 | Autonomic erectile dysfunction | 1 | CCT5 CL E G H | 22948 | 139578 | | | | ORPHA | 1 | | 314 | 1618 | 610150 |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | CCT5 CL E G H | 22948 | 139578 | | | | ORPHA | 1 | | 314 | 1618 | 610150 |
HP:0012332 | HP:0012173 | Orthostatic tachycardia | 1 | CCT5 CL E G H | 22948 | 139578 | | | | ORPHA | 1 | | 314 | 1618 | 610150 |
HP:0012332 | HP:0002277 | Horner syndrome | 1 | CCT5 CL E G H | 22948 | 139578 | | | | ORPHA | 1 | | 314 | 1618 | 610150 |
HP:0012332 | HP:0005341 | Autonomic bladder dysfunction | 1 | CCT5 CL E G H | 22948 | 139578 | | | | ORPHA | 1 | | 314 | 1618 | 610150 |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | ECE1 CL E G H | 1889 | 613870 | Hirschsprung disease, cardiac defects, and autonomic dysfunction | 613870 | C3151237 | OMIM | 1 | | 49 | 3146 | 600423 |
HP:0012332 | HP:0012173 | Orthostatic tachycardia | 1 | ECE1 CL E G H | 1889 | 613870 | Hirschsprung disease, cardiac defects, and autonomic dysfunction | 613870 | C3151237 | OMIM | 1 | | 49 | 3146 | 600423 |
HP:0012332 | HP:0002277 | Horner syndrome | 1 | ECE1 CL E G H | 1889 | 613870 | Hirschsprung disease, cardiac defects, and autonomic dysfunction | 613870 | C3151237 | OMIM | 1 | | 49 | 3146 | 600423 |
HP:0012332 | HP:0005341 | Autonomic bladder dysfunction | 1 | ECE1 CL E G H | 1889 | 613870 | Hirschsprung disease, cardiac defects, and autonomic dysfunction | 613870 | C3151237 | OMIM | 1 | | 49 | 3146 | 600423 |
HP:0012332 | HP:0012333 | Abnormal sudomotor regulation | 1 | ECE1 CL E G H | 1889 | 613870 | Hirschsprung disease, cardiac defects, and autonomic dysfunction | 613870 | C3151237 | OMIM | 1 | | 49 | 3146 | 600423 |
HP:0012332 | HP:0008652 | Autonomic erectile dysfunction | 1 | ECE1 CL E G H | 1889 | 613870 | Hirschsprung disease, cardiac defects, and autonomic dysfunction | 613870 | C3151237 | OMIM | 1 | | 49 | 3146 | 600423 |
HP:0012332 | HP:0012333 | Abnormal sudomotor regulation | 1 | FBXO7 CL E G H | 25793 | 171695 | | | | ORPHA | 1 | | 191 | 13586 | 605648 |
HP:0012332 | HP:0008652 | Autonomic erectile dysfunction | 1 | FBXO7 CL E G H | 25793 | 171695 | | | | ORPHA | 1 | | 191 | 13586 | 605648 |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | FBXO7 CL E G H | 25793 | 171695 | | | | ORPHA | 1 | | 191 | 13586 | 605648 |
HP:0012332 | HP:0012173 | Orthostatic tachycardia | 1 | FBXO7 CL E G H | 25793 | 171695 | | | | ORPHA | 1 | | 191 | 13586 | 605648 |
HP:0012332 | HP:0002277 | Horner syndrome | 1 | FBXO7 CL E G H | 25793 | 171695 | | | | ORPHA | 1 | | 191 | 13586 | 605648 |
HP:0012332 | HP:0005341 | Autonomic bladder dysfunction | 1 | FBXO7 CL E G H | 25793 | 171695 | | | | ORPHA | 1 | | 191 | 13586 | 605648 |
HP:0012332 | HP:0012333 | Abnormal sudomotor regulation | 1 | FMR1 CL E G H | 2332 | 93256 | | | | ORPHA | 1 | | 338 | 3775 | 309550 |
HP:0012332 | HP:0008652 | Autonomic erectile dysfunction | 1 | FMR1 CL E G H | 2332 | 93256 | | | | ORPHA | 1 | | 338 | 3775 | 309550 |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | FMR1 CL E G H | 2332 | 93256 | | | | ORPHA | 1 | | 338 | 3775 | 309550 |
HP:0012332 | HP:0012173 | Orthostatic tachycardia | 1 | FMR1 CL E G H | 2332 | 93256 | | | | ORPHA | 1 | | 338 | 3775 | 309550 |
HP:0012332 | HP:0002277 | Horner syndrome | 1 | FMR1 CL E G H | 2332 | 93256 | | | | ORPHA | 1 | | 338 | 3775 | 309550 |
HP:0012332 | HP:0005341 | Autonomic bladder dysfunction | 1 | FMR1 CL E G H | 2332 | 93256 | | | | ORPHA | 1 | | 338 | 3775 | 309550 |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | GABBR2 CL E G H | 9568 | 617903 | NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS | 617903 | CN870852 | OMIM | 1 | | 682 | 4507 | 607340 |
HP:0012332 | HP:0012173 | Orthostatic tachycardia | 1 | GABBR2 CL E G H | 9568 | 617903 | NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS | 617903 | CN870852 | OMIM | 1 | | 682 | 4507 | 607340 |
HP:0012332 | HP:0002277 | Horner syndrome | 1 | GABBR2 CL E G H | 9568 | 617903 | NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS | 617903 | CN870852 | OMIM | 1 | | 682 | 4507 | 607340 |
HP:0012332 | HP:0005341 | Autonomic bladder dysfunction | 1 | GABBR2 CL E G H | 9568 | 617903 | NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS | 617903 | CN870852 | OMIM | 1 | | 682 | 4507 | 607340 |
HP:0012332 | HP:0012333 | Abnormal sudomotor regulation | 1 | GABBR2 CL E G H | 9568 | 617903 | NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS | 617903 | CN870852 | OMIM | 1 | | 682 | 4507 | 607340 |
HP:0012332 | HP:0008652 | Autonomic erectile dysfunction | 1 | GABBR2 CL E G H | 9568 | 617903 | NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS | 617903 | CN870852 | OMIM | 1 | | 682 | 4507 | 607340 |
HP:0012332 | HP:0012333 | Abnormal sudomotor regulation | 1 | GLA CL E G H | 2717 | 301500 | Fabry disease | 301500 | C0002986 | OMIM | 1 | | 1002 | 4296 | 300644 |
HP:0012332 | HP:0008652 | Autonomic erectile dysfunction | 1 | GLA CL E G H | 2717 | 301500 | Fabry disease | 301500 | C0002986 | OMIM | 1 | | 1002 | 4296 | 300644 |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | GLA CL E G H | 2717 | 301500 | Fabry disease | 301500 | C0002986 | OMIM | 1 | | 1002 | 4296 | 300644 |
HP:0012332 | HP:0012173 | Orthostatic tachycardia | 1 | GLA CL E G H | 2717 | 301500 | Fabry disease | 301500 | C0002986 | OMIM | 1 | | 1002 | 4296 | 300644 |
HP:0012332 | HP:0002277 | Horner syndrome | 1 | GLA CL E G H | 2717 | 301500 | Fabry disease | 301500 | C0002986 | OMIM | 1 | | 1002 | 4296 | 300644 |
HP:0012332 | HP:0005341 | Autonomic bladder dysfunction | 1 | GLA CL E G H | 2717 | 301500 | Fabry disease | 301500 | C0002986 | OMIM | 1 | | 1002 | 4296 | 300644 |
HP:0012332 | HP:0012333 | Abnormal sudomotor regulation | 1 | LIFR CL E G H | 3977 | 3206 | | | | ORPHA | 1 | | 721 | 6597 | 151443 |
HP:0012332 | HP:0008652 | Autonomic erectile dysfunction | 1 | LIFR CL E G H | 3977 | 3206 | | | | ORPHA | 1 | | 721 | 6597 | 151443 |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | LIFR CL E G H | 3977 | 3206 | | | | ORPHA | 1 | | 721 | 6597 | 151443 |
HP:0012332 | HP:0012173 | Orthostatic tachycardia | 1 | LIFR CL E G H | 3977 | 3206 | | | | ORPHA | 1 | | 721 | 6597 | 151443 |
HP:0012332 | HP:0002277 | Horner syndrome | 1 | LIFR CL E G H | 3977 | 3206 | | | | ORPHA | 1 | | 721 | 6597 | 151443 |
HP:0012332 | HP:0005341 | Autonomic bladder dysfunction | 1 | LIFR CL E G H | 3977 | 3206 | | | | ORPHA | 1 | | 721 | 6597 | 151443 |
HP:0012332 | HP:0012333 | Abnormal sudomotor regulation | 1 | LIFR CL E G H | 3977 | 601559 | Stuve-Wiedemann syndrome | 601559 | C0796176 | OMIM | 1 | | 721 | 6597 | 151443 |
HP:0012332 | HP:0008652 | Autonomic erectile dysfunction | 1 | LIFR CL E G H | 3977 | 601559 | Stuve-Wiedemann syndrome | 601559 | C0796176 | OMIM | 1 | | 721 | 6597 | 151443 |
HP:0012332 | HP:0012173 | Orthostatic tachycardia | 1 | LIFR CL E G H | 3977 | 601559 | Stuve-Wiedemann syndrome | 601559 | C0796176 | OMIM | 1 | | 721 | 6597 | 151443 |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | LIFR CL E G H | 3977 | 601559 | Stuve-Wiedemann syndrome | 601559 | C0796176 | OMIM | 1 | | 721 | 6597 | 151443 |
HP:0012332 | HP:0002277 | Horner syndrome | 1 | LIFR CL E G H | 3977 | 601559 | Stuve-Wiedemann syndrome | 601559 | C0796176 | OMIM | 1 | | 721 | 6597 | 151443 |
HP:0012332 | HP:0005341 | Autonomic bladder dysfunction | 1 | LIFR CL E G H | 3977 | 601559 | Stuve-Wiedemann syndrome | 601559 | C0796176 | OMIM | 1 | | 721 | 6597 | 151443 |
HP:0012332 | HP:0012333 | Abnormal sudomotor regulation | 1 | PHOX2B CL E G H | 8929 | 99803 | Haddad syndrome | | C1859587 | ORPHA | 1 | | 840 | 9143 | 603851 |
HP:0012332 | HP:0008652 | Autonomic erectile dysfunction | 1 | PHOX2B CL E G H | 8929 | 99803 | Haddad syndrome | | C1859587 | ORPHA | 1 | | 840 | 9143 | 603851 |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | PHOX2B CL E G H | 8929 | 99803 | Haddad syndrome | | C1859587 | ORPHA | 1 | | 840 | 9143 | 603851 |
HP:0012332 | HP:0012173 | Orthostatic tachycardia | 1 | PHOX2B CL E G H | 8929 | 99803 | Haddad syndrome | | C1859587 | ORPHA | 1 | | 840 | 9143 | 603851 |
HP:0012332 | HP:0002277 | Horner syndrome | 1 | PHOX2B CL E G H | 8929 | 99803 | Haddad syndrome | | C1859587 | ORPHA | 1 | | 840 | 9143 | 603851 |
HP:0012332 | HP:0005341 | Autonomic bladder dysfunction | 1 | PHOX2B CL E G H | 8929 | 99803 | Haddad syndrome | | C1859587 | ORPHA | 1 | | 840 | 9143 | 603851 |
HP:0012332 | HP:0012333 | Abnormal sudomotor regulation | 1 | PRNP CL E G H | 5621 | 282166 | | | | ORPHA | 1 | | 164 | 9449 | 176640 |
HP:0012332 | HP:0008652 | Autonomic erectile dysfunction | 1 | PRNP CL E G H | 5621 | 282166 | | | | ORPHA | 1 | | 164 | 9449 | 176640 |
HP:0012332 | HP:0012173 | Orthostatic tachycardia | 1 | PRNP CL E G H | 5621 | 282166 | | | | ORPHA | 1 | | 164 | 9449 | 176640 |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | PRNP CL E G H | 5621 | 282166 | | | | ORPHA | 1 | | 164 | 9449 | 176640 |
HP:0012332 | HP:0002277 | Horner syndrome | 1 | PRNP CL E G H | 5621 | 282166 | | | | ORPHA | 1 | | 164 | 9449 | 176640 |
HP:0012332 | HP:0005341 | Autonomic bladder dysfunction | 1 | PRNP CL E G H | 5621 | 282166 | | | | ORPHA | 1 | | 164 | 9449 | 176640 |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | PRNP CL E G H | 5621 | 600072 | Fatal familial insomnia | 600072 | C0206042 | OMIM | 1 | | 164 | 9449 | 176640 |
HP:0012332 | HP:0012173 | Orthostatic tachycardia | 1 | PRNP CL E G H | 5621 | 600072 | Fatal familial insomnia | 600072 | C0206042 | OMIM | 1 | | 164 | 9449 | 176640 |
HP:0012332 | HP:0002277 | Horner syndrome | 1 | PRNP CL E G H | 5621 | 600072 | Fatal familial insomnia | 600072 | C0206042 | OMIM | 1 | | 164 | 9449 | 176640 |
HP:0012332 | HP:0005341 | Autonomic bladder dysfunction | 1 | PRNP CL E G H | 5621 | 600072 | Fatal familial insomnia | 600072 | C0206042 | OMIM | 1 | | 164 | 9449 | 176640 |
HP:0012332 | HP:0012333 | Abnormal sudomotor regulation | 1 | PRNP CL E G H | 5621 | 600072 | Fatal familial insomnia | 600072 | C0206042 | OMIM | 1 | | 164 | 9449 | 176640 |
HP:0012332 | HP:0008652 | Autonomic erectile dysfunction | 1 | PRNP CL E G H | 5621 | 600072 | Fatal familial insomnia | 600072 | C0206042 | OMIM | 1 | | 164 | 9449 | 176640 |
HP:0012332 | HP:0012173 | Orthostatic tachycardia | 1 | RET CL E G H | 5979 | 99803 | Haddad syndrome | | C1859587 | ORPHA | 1 | | 2692 | 9967 | 164761 |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | RET CL E G H | 5979 | 99803 | Haddad syndrome | | C1859587 | ORPHA | 1 | | 2692 | 9967 | 164761 |
HP:0012332 | HP:0002277 | Horner syndrome | 1 | RET CL E G H | 5979 | 99803 | Haddad syndrome | | C1859587 | ORPHA | 1 | | 2692 | 9967 | 164761 |
HP:0012332 | HP:0005341 | Autonomic bladder dysfunction | 1 | RET CL E G H | 5979 | 99803 | Haddad syndrome | | C1859587 | ORPHA | 1 | | 2692 | 9967 | 164761 |
HP:0012332 | HP:0012333 | Abnormal sudomotor regulation | 1 | RET CL E G H | 5979 | 99803 | Haddad syndrome | | C1859587 | ORPHA | 1 | | 2692 | 9967 | 164761 |
HP:0012332 | HP:0008652 | Autonomic erectile dysfunction | 1 | RET CL E G H | 5979 | 99803 | Haddad syndrome | | C1859587 | ORPHA | 1 | | 2692 | 9967 | 164761 |
HP:0012332 | HP:0012333 | Abnormal sudomotor regulation | 1 | SCN11A CL E G H | 11280 | 615552 | Episodic pain syndrome, familial, 3 | 615552 | C3809899 | OMIM | 1 | | 1004 | 10583 | 604385 |
HP:0012332 | HP:0008652 | Autonomic erectile dysfunction | 1 | SCN11A CL E G H | 11280 | 615552 | Episodic pain syndrome, familial, 3 | 615552 | C3809899 | OMIM | 1 | | 1004 | 10583 | 604385 |
HP:0012332 | HP:0012173 | Orthostatic tachycardia | 1 | SCN11A CL E G H | 11280 | 615552 | Episodic pain syndrome, familial, 3 | 615552 | C3809899 | OMIM | 1 | | 1004 | 10583 | 604385 |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | SCN11A CL E G H | 11280 | 615552 | Episodic pain syndrome, familial, 3 | 615552 | C3809899 | OMIM | 1 | | 1004 | 10583 | 604385 |
HP:0012332 | HP:0005341 | Autonomic bladder dysfunction | 1 | SCN11A CL E G H | 11280 | 615552 | Episodic pain syndrome, familial, 3 | 615552 | C3809899 | OMIM | 1 | | 1004 | 10583 | 604385 |
HP:0012332 | HP:0002277 | Horner syndrome | 1 | SCN11A CL E G H | 11280 | 615552 | Episodic pain syndrome, familial, 3 | 615552 | C3809899 | OMIM | 1 | | 1004 | 10583 | 604385 |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | SCN11A CL E G H | 11280 | 615548 | Neuropathy, hereditary sensory and autonomic, type VII | 615548 | C3809882 | OMIM | 1 | | 1004 | 10583 | 604385 |
HP:0012332 | HP:0012173 | Orthostatic tachycardia | 1 | SCN11A CL E G H | 11280 | 615548 | Neuropathy, hereditary sensory and autonomic, type VII | 615548 | C3809882 | OMIM | 1 | | 1004 | 10583 | 604385 |
HP:0012332 | HP:0002277 | Horner syndrome | 1 | SCN11A CL E G H | 11280 | 615548 | Neuropathy, hereditary sensory and autonomic, type VII | 615548 | C3809882 | OMIM | 1 | | 1004 | 10583 | 604385 |
HP:0012332 | HP:0005341 | Autonomic bladder dysfunction | 1 | SCN11A CL E G H | 11280 | 615548 | Neuropathy, hereditary sensory and autonomic, type VII | 615548 | C3809882 | OMIM | 1 | | 1004 | 10583 | 604385 |
HP:0012332 | HP:0012333 | Abnormal sudomotor regulation | 1 | SCN11A CL E G H | 11280 | 615548 | Neuropathy, hereditary sensory and autonomic, type VII | 615548 | C3809882 | OMIM | 1 | | 1004 | 10583 | 604385 |
HP:0012332 | HP:0008652 | Autonomic erectile dysfunction | 1 | SCN11A CL E G H | 11280 | 615548 | Neuropathy, hereditary sensory and autonomic, type VII | 615548 | C3809882 | OMIM | 1 | | 1004 | 10583 | 604385 |
HP:0012332 | HP:0012333 | Abnormal sudomotor regulation | 1 | SCN3A CL E G H | 6328 | 617935 | EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4 | 617935 | CN244552 | OMIM | 1 | | 1096 | 10590 | 182391 |
HP:0012332 | HP:0008652 | Autonomic erectile dysfunction | 1 | SCN3A CL E G H | 6328 | 617935 | EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4 | 617935 | CN244552 | OMIM | 1 | | 1096 | 10590 | 182391 |
HP:0012332 | HP:0012173 | Orthostatic tachycardia | 1 | SCN3A CL E G H | 6328 | 617935 | EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4 | 617935 | CN244552 | OMIM | 1 | | 1096 | 10590 | 182391 |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | SCN3A CL E G H | 6328 | 617935 | EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4 | 617935 | CN244552 | OMIM | 1 | | 1096 | 10590 | 182391 |
HP:0012332 | HP:0002277 | Horner syndrome | 1 | SCN3A CL E G H | 6328 | 617935 | EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4 | 617935 | CN244552 | OMIM | 1 | | 1096 | 10590 | 182391 |
HP:0012332 | HP:0005341 | Autonomic bladder dysfunction | 1 | SCN3A CL E G H | 6328 | 617935 | EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4 | 617935 | CN244552 | OMIM | 1 | | 1096 | 10590 | 182391 |
HP:0012332 | HP:0012333 | Abnormal sudomotor regulation | 1 | SCN9A CL E G H | 6335 | 243000 | Indifference to pain, congenital, autosomal recessive | 243000 | C1855739 | OMIM | 1 | | 1907 | 10597 | 603415 |
HP:0012332 | HP:0008652 | Autonomic erectile dysfunction | 1 | SCN9A CL E G H | 6335 | 243000 | Indifference to pain, congenital, autosomal recessive | 243000 | C1855739 | OMIM | 1 | | 1907 | 10597 | 603415 |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | SCN9A CL E G H | 6335 | 243000 | Indifference to pain, congenital, autosomal recessive | 243000 | C1855739 | OMIM | 1 | | 1907 | 10597 | 603415 |
HP:0012332 | HP:0012173 | Orthostatic tachycardia | 1 | SCN9A CL E G H | 6335 | 243000 | Indifference to pain, congenital, autosomal recessive | 243000 | C1855739 | OMIM | 1 | | 1907 | 10597 | 603415 |
HP:0012332 | HP:0002277 | Horner syndrome | 1 | SCN9A CL E G H | 6335 | 243000 | Indifference to pain, congenital, autosomal recessive | 243000 | C1855739 | OMIM | 1 | | 1907 | 10597 | 603415 |
HP:0012332 | HP:0005341 | Autonomic bladder dysfunction | 1 | SCN9A CL E G H | 6335 | 243000 | Indifference to pain, congenital, autosomal recessive | 243000 | C1855739 | OMIM | 1 | | 1907 | 10597 | 603415 |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | SLC18A2 CL E G H | 6571 | 618049 | PARKINSONISM-DYSTONIA, INFANTILE, 2 | 618049 | CN248785 | OMIM | 1 | | 124 | 10935 | 193001 |
HP:0012332 | HP:0012173 | Orthostatic tachycardia | 1 | SLC18A2 CL E G H | 6571 | 618049 | PARKINSONISM-DYSTONIA, INFANTILE, 2 | 618049 | CN248785 | OMIM | 1 | | 124 | 10935 | 193001 |
HP:0012332 | HP:0002277 | Horner syndrome | 1 | SLC18A2 CL E G H | 6571 | 618049 | PARKINSONISM-DYSTONIA, INFANTILE, 2 | 618049 | CN248785 | OMIM | 1 | | 124 | 10935 | 193001 |
HP:0012332 | HP:0005341 | Autonomic bladder dysfunction | 1 | SLC18A2 CL E G H | 6571 | 618049 | PARKINSONISM-DYSTONIA, INFANTILE, 2 | 618049 | CN248785 | OMIM | 1 | | 124 | 10935 | 193001 |
HP:0012332 | HP:0012333 | Abnormal sudomotor regulation | 1 | SLC18A2 CL E G H | 6571 | 618049 | PARKINSONISM-DYSTONIA, INFANTILE, 2 | 618049 | CN248785 | OMIM | 1 | | 124 | 10935 | 193001 |
HP:0012332 | HP:0008652 | Autonomic erectile dysfunction | 1 | SLC18A2 CL E G H | 6571 | 618049 | PARKINSONISM-DYSTONIA, INFANTILE, 2 | 618049 | CN248785 | OMIM | 1 | | 124 | 10935 | 193001 |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | SNCA CL E G H | 6622 | 171695 | | | | ORPHA | 1 | | 177 | 11138 | 163890 |
HP:0012332 | HP:0012173 | Orthostatic tachycardia | 1 | SNCA CL E G H | 6622 | 171695 | | | | ORPHA | 1 | | 177 | 11138 | 163890 |
HP:0012332 | HP:0002277 | Horner syndrome | 1 | SNCA CL E G H | 6622 | 171695 | | | | ORPHA | 1 | | 177 | 11138 | 163890 |
HP:0012332 | HP:0005341 | Autonomic bladder dysfunction | 1 | SNCA CL E G H | 6622 | 171695 | | | | ORPHA | 1 | | 177 | 11138 | 163890 |
HP:0012332 | HP:0012333 | Abnormal sudomotor regulation | 1 | SNCA CL E G H | 6622 | 171695 | | | | ORPHA | 1 | | 177 | 11138 | 163890 |
HP:0012332 | HP:0008652 | Autonomic erectile dysfunction | 1 | SNCA CL E G H | 6622 | 171695 | | | | ORPHA | 1 | | 177 | 11138 | 163890 |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | SOX10 CL E G H | 6663 | 609136 | Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease | 609136 | C1836727 | OMIM | 1 | | 302 | 11190 | 602229 |
HP:0012332 | HP:0012173 | Orthostatic tachycardia | 1 | SOX10 CL E G H | 6663 | 609136 | Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease | 609136 | C1836727 | OMIM | 1 | | 302 | 11190 | 602229 |
HP:0012332 | HP:0002277 | Horner syndrome | 1 | SOX10 CL E G H | 6663 | 609136 | Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease | 609136 | C1836727 | OMIM | 1 | | 302 | 11190 | 602229 |
HP:0012332 | HP:0005341 | Autonomic bladder dysfunction | 1 | SOX10 CL E G H | 6663 | 609136 | Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease | 609136 | C1836727 | OMIM | 1 | | 302 | 11190 | 602229 |
HP:0012332 | HP:0012333 | Abnormal sudomotor regulation | 1 | SOX10 CL E G H | 6663 | 609136 | Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease | 609136 | C1836727 | OMIM | 1 | | 302 | 11190 | 602229 |
HP:0012332 | HP:0008652 | Autonomic erectile dysfunction | 1 | SOX10 CL E G H | 6663 | 609136 | Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease | 609136 | C1836727 | OMIM | 1 | | 302 | 11190 | 602229 |
HP:0012332 | HP:0012333 | Abnormal sudomotor regulation | 1 | TCF4 CL E G H | 6925 | 610954 | Pitt-Hopkins syndrome | 610954 | C1970431 | OMIM | 1 | | 913 | 11634 | 602272 |
HP:0012332 | HP:0008652 | Autonomic erectile dysfunction | 1 | TCF4 CL E G H | 6925 | 610954 | Pitt-Hopkins syndrome | 610954 | C1970431 | OMIM | 1 | | 913 | 11634 | 602272 |
HP:0012332 | HP:0012173 | Orthostatic tachycardia | 1 | TCF4 CL E G H | 6925 | 610954 | Pitt-Hopkins syndrome | 610954 | C1970431 | OMIM | 1 | | 913 | 11634 | 602272 |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | TCF4 CL E G H | 6925 | 610954 | Pitt-Hopkins syndrome | 610954 | C1970431 | OMIM | 1 | | 913 | 11634 | 602272 |
HP:0012332 | HP:0005341 | Autonomic bladder dysfunction | 1 | TCF4 CL E G H | 6925 | 610954 | Pitt-Hopkins syndrome | 610954 | C1970431 | OMIM | 1 | | 913 | 11634 | 602272 |
HP:0012332 | HP:0002277 | Horner syndrome | 1 | TCF4 CL E G H | 6925 | 610954 | Pitt-Hopkins syndrome | 610954 | C1970431 | OMIM | 1 | | 913 | 11634 | 602272 |
HP:0012332 | HP:0012173 | Orthostatic tachycardia | 1 | TSPYL1 CL E G H | 7259 | 168593 | | | | ORPHA | 1 | | 48 | 12382 | 604714 |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | TSPYL1 CL E G H | 7259 | 168593 | | | | ORPHA | 1 | | 48 | 12382 | 604714 |
HP:0012332 | HP:0002277 | Horner syndrome | 1 | TSPYL1 CL E G H | 7259 | 168593 | | | | ORPHA | 1 | | 48 | 12382 | 604714 |
HP:0012332 | HP:0005341 | Autonomic bladder dysfunction | 1 | TSPYL1 CL E G H | 7259 | 168593 | | | | ORPHA | 1 | | 48 | 12382 | 604714 |
HP:0012332 | HP:0012333 | Abnormal sudomotor regulation | 1 | TSPYL1 CL E G H | 7259 | 168593 | | | | ORPHA | 1 | | 48 | 12382 | 604714 |
HP:0012332 | HP:0008652 | Autonomic erectile dysfunction | 1 | TSPYL1 CL E G H | 7259 | 168593 | | | | ORPHA | 1 | | 48 | 12382 | 604714 |
HP:0012332 | HP:0012173 | Orthostatic tachycardia | 1 | TTR CL E G H | 7276 | 85447 | | | | ORPHA | 1 | | 341 | 12405 | 176300 |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | TTR CL E G H | 7276 | 85447 | | | | ORPHA | 1 | | 341 | 12405 | 176300 |
HP:0012332 | HP:0005341 | Autonomic bladder dysfunction | 1 | TTR CL E G H | 7276 | 85447 | | | | ORPHA | 1 | | 341 | 12405 | 176300 |
HP:0012332 | HP:0002277 | Horner syndrome | 1 | TTR CL E G H | 7276 | 85447 | | | | ORPHA | 1 | | 341 | 12405 | 176300 |
HP:0012332 | HP:0012333 | Abnormal sudomotor regulation | 1 | TTR CL E G H | 7276 | 85447 | | | | ORPHA | 1 | | 341 | 12405 | 176300 |
HP:0012332 | HP:0008652 | Autonomic erectile dysfunction | 1 | TTR CL E G H | 7276 | 85447 | | | | ORPHA | 1 | | 341 | 12405 | 176300 |
HP:0012332 | HP:0012333 | Abnormal sudomotor regulation | 1 | TXN2 CL E G H | 25828 | 478029 | | | | ORPHA | 1 | | 50 | 17772 | 609063 |
HP:0012332 | HP:0008652 | Autonomic erectile dysfunction | 1 | TXN2 CL E G H | 25828 | 478029 | | | | ORPHA | 1 | | 50 | 17772 | 609063 |
HP:0012332 | HP:0012173 | Orthostatic tachycardia | 1 | TXN2 CL E G H | 25828 | 478029 | | | | ORPHA | 1 | | 50 | 17772 | 609063 |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | TXN2 CL E G H | 25828 | 478029 | | | | ORPHA | 1 | | 50 | 17772 | 609063 |
HP:0012332 | HP:0005341 | Autonomic bladder dysfunction | 1 | TXN2 CL E G H | 25828 | 478029 | | | | ORPHA | 1 | | 50 | 17772 | 609063 |
HP:0012332 | HP:0002277 | Horner syndrome | 1 | TXN2 CL E G H | 25828 | 478029 | | | | ORPHA | 1 | | 50 | 17772 | 609063 |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | VPS11 CL E G H | 55823 | 466934 | | | | ORPHA | 1 | | 139 | 14583 | 608549 |
HP:0012332 | HP:0012173 | Orthostatic tachycardia | 1 | VPS11 CL E G H | 55823 | 466934 | | | | ORPHA | 1 | | 139 | 14583 | 608549 |
HP:0012332 | HP:0002277 | Horner syndrome | 1 | VPS11 CL E G H | 55823 | 466934 | | | | ORPHA | 1 | | 139 | 14583 | 608549 |
HP:0012332 | HP:0005341 | Autonomic bladder dysfunction | 1 | VPS11 CL E G H | 55823 | 466934 | | | | ORPHA | 1 | | 139 | 14583 | 608549 |
HP:0012332 | HP:0012333 | Abnormal sudomotor regulation | 1 | VPS11 CL E G H | 55823 | 466934 | | | | ORPHA | 1 | | 139 | 14583 | 608549 |
HP:0012332 | HP:0008652 | Autonomic erectile dysfunction | 1 | VPS11 CL E G H | 55823 | 466934 | | | | ORPHA | 1 | | 139 | 14583 | 608549 |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | VPS11 CL E G H | 55823 | 616683 | Leukodystrophy, hypomyelinating, 12 | 616683 | C4225247 | OMIM | 1 | | 139 | 14583 | 608549 |
HP:0012332 | HP:0012173 | Orthostatic tachycardia | 1 | VPS11 CL E G H | 55823 | 616683 | Leukodystrophy, hypomyelinating, 12 | 616683 | C4225247 | OMIM | 1 | | 139 | 14583 | 608549 |
HP:0012332 | HP:0002277 | Horner syndrome | 1 | VPS11 CL E G H | 55823 | 616683 | Leukodystrophy, hypomyelinating, 12 | 616683 | C4225247 | OMIM | 1 | | 139 | 14583 | 608549 |
HP:0012332 | HP:0005341 | Autonomic bladder dysfunction | 1 | VPS11 CL E G H | 55823 | 616683 | Leukodystrophy, hypomyelinating, 12 | 616683 | C4225247 | OMIM | 1 | | 139 | 14583 | 608549 |
HP:0012332 | HP:0012333 | Abnormal sudomotor regulation | 1 | VPS11 CL E G H | 55823 | 616683 | Leukodystrophy, hypomyelinating, 12 | 616683 | C4225247 | OMIM | 1 | | 139 | 14583 | 608549 |
HP:0012332 | HP:0008652 | Autonomic erectile dysfunction | 1 | VPS11 CL E G H | 55823 | 616683 | Leukodystrophy, hypomyelinating, 12 | 616683 | C4225247 | OMIM | 1 | | 139 | 14583 | 608549 |
HP:0012332 | HP:0012333 | Abnormal sudomotor regulation | 1 | WDR45 CL E G H | 11152 | 329284 | | | | ORPHA | 1 | | 504 | 28912 | 300526 |
HP:0012332 | HP:0008652 | Autonomic erectile dysfunction | 1 | WDR45 CL E G H | 11152 | 329284 | | | | ORPHA | 1 | | 504 | 28912 | 300526 |
HP:0012332 | HP:0012173 | Orthostatic tachycardia | 1 | WDR45 CL E G H | 11152 | 329284 | | | | ORPHA | 1 | | 504 | 28912 | 300526 |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | WDR45 CL E G H | 11152 | 329284 | | | | ORPHA | 1 | | 504 | 28912 | 300526 |
HP:0012332 | HP:0005341 | Autonomic bladder dysfunction | 1 | WDR45 CL E G H | 11152 | 329284 | | | | ORPHA | 1 | | 504 | 28912 | 300526 |
HP:0012332 | HP:0002277 | Horner syndrome | 1 | WDR45 CL E G H | 11152 | 329284 | | | | ORPHA | 1 | | 504 | 28912 | 300526 |
HP:0012332 | HP:0012173 | Orthostatic tachycardia | 1 | WDR45 CL E G H | 11152 | 300894 | Neurodegeneration with brain iron accumulation 5 | 300894 | C3550973 | OMIM | 1 | | 504 | 28912 | 300526 |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | WDR45 CL E G H | 11152 | 300894 | Neurodegeneration with brain iron accumulation 5 | 300894 | C3550973 | OMIM | 1 | | 504 | 28912 | 300526 |
HP:0012332 | HP:0002277 | Horner syndrome | 1 | WDR45 CL E G H | 11152 | 300894 | Neurodegeneration with brain iron accumulation 5 | 300894 | C3550973 | OMIM | 1 | | 504 | 28912 | 300526 |
HP:0012332 | HP:0005341 | Autonomic bladder dysfunction | 1 | WDR45 CL E G H | 11152 | 300894 | Neurodegeneration with brain iron accumulation 5 | 300894 | C3550973 | OMIM | 1 | | 504 | 28912 | 300526 |
HP:0012332 | HP:0012333 | Abnormal sudomotor regulation | 1 | WDR45 CL E G H | 11152 | 300894 | Neurodegeneration with brain iron accumulation 5 | 300894 | C3550973 | OMIM | 1 | | 504 | 28912 | 300526 |
HP:0012332 | HP:0008652 | Autonomic erectile dysfunction | 1 | WDR45 CL E G H | 11152 | 300894 | Neurodegeneration with brain iron accumulation 5 | 300894 | C3550973 | OMIM | 1 | | 504 | 28912 | 300526 |
HP:0012332 | HP:0006837 | Congenital Horner syndrome | 2 | AAAS CL E G H | 8086 | 231550 | Glucocorticoid deficiency with achalasia | 231550 | C0271742 | OMIM | 1 | | 187 | 13666 | 605378 |
HP:0012332 | HP:0005307 | Postural hypotension with compensatory tachycardia | 2 | AAAS CL E G H | 8086 | 231550 | Glucocorticoid deficiency with achalasia | 231550 | C0271742 | OMIM | 1 | | 187 | 13666 | 605378 |
HP:0012332 | HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | 2 | AAAS CL E G H | 8086 | 231550 | Glucocorticoid deficiency with achalasia | 231550 | C0271742 | OMIM | 1 | | 187 | 13666 | 605378 |
HP:0012332 | HP:0006837 | Congenital Horner syndrome | 2 | ASCL1 CL E G H | 429 | 99803 | Haddad syndrome | | C1859587 | ORPHA | 1 | | 32 | 738 | 100790 |
HP:0012332 | HP:0005307 | Postural hypotension with compensatory tachycardia | 2 | ASCL1 CL E G H | 429 | 99803 | Haddad syndrome | | C1859587 | ORPHA | 1 | | 32 | 738 | 100790 |
HP:0012332 | HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | 2 | ASCL1 CL E G H | 429 | 99803 | Haddad syndrome | | C1859587 | ORPHA | 1 | | 32 | 738 | 100790 |
HP:0012332 | HP:0005307 | Postural hypotension with compensatory tachycardia | 2 | BRAT1 CL E G H | 221927 | 614498 | Rigidity and multifocal seizure syndrome, lethal neonatal | 614498 | C3281029 | OMIM | 1 | | 960 | 21701 | 614506 |
HP:0012332 | HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | 2 | BRAT1 CL E G H | 221927 | 614498 | Rigidity and multifocal seizure syndrome, lethal neonatal | 614498 | C3281029 | OMIM | 1 | | 960 | 21701 | 614506 |
HP:0012332 | HP:0006837 | Congenital Horner syndrome | 2 | BRAT1 CL E G H | 221927 | 614498 | Rigidity and multifocal seizure syndrome, lethal neonatal | 614498 | C3281029 | OMIM | 1 | | 960 | 21701 | 614506 |
HP:0012332 | HP:0005307 | Postural hypotension with compensatory tachycardia | 2 | CCT5 CL E G H | 22948 | 139578 | | | | ORPHA | 1 | | 314 | 1618 | 610150 |
HP:0012332 | HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | 2 | CCT5 CL E G H | 22948 | 139578 | | | | ORPHA | 1 | | 314 | 1618 | 610150 |
HP:0012332 | HP:0006837 | Congenital Horner syndrome | 2 | CCT5 CL E G H | 22948 | 139578 | | | | ORPHA | 1 | | 314 | 1618 | 610150 |
HP:0012332 | HP:0006837 | Congenital Horner syndrome | 2 | ECE1 CL E G H | 1889 | 613870 | Hirschsprung disease, cardiac defects, and autonomic dysfunction | 613870 | C3151237 | OMIM | 1 | | 49 | 3146 | 600423 |
HP:0012332 | HP:0005307 | Postural hypotension with compensatory tachycardia | 2 | ECE1 CL E G H | 1889 | 613870 | Hirschsprung disease, cardiac defects, and autonomic dysfunction | 613870 | C3151237 | OMIM | 1 | | 49 | 3146 | 600423 |
HP:0012332 | HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | 2 | ECE1 CL E G H | 1889 | 613870 | Hirschsprung disease, cardiac defects, and autonomic dysfunction | 613870 | C3151237 | OMIM | 1 | | 49 | 3146 | 600423 |
HP:0012332 | HP:0005307 | Postural hypotension with compensatory tachycardia | 2 | FBXO7 CL E G H | 25793 | 171695 | | | | ORPHA | 1 | | 191 | 13586 | 605648 |
HP:0012332 | HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | 2 | FBXO7 CL E G H | 25793 | 171695 | | | | ORPHA | 1 | | 191 | 13586 | 605648 |
HP:0012332 | HP:0006837 | Congenital Horner syndrome | 2 | FBXO7 CL E G H | 25793 | 171695 | | | | ORPHA | 1 | | 191 | 13586 | 605648 |
HP:0012332 | HP:0005307 | Postural hypotension with compensatory tachycardia | 2 | FMR1 CL E G H | 2332 | 93256 | | | | ORPHA | 1 | | 338 | 3775 | 309550 |
HP:0012332 | HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | 2 | FMR1 CL E G H | 2332 | 93256 | | | | ORPHA | 1 | | 338 | 3775 | 309550 |
HP:0012332 | HP:0006837 | Congenital Horner syndrome | 2 | FMR1 CL E G H | 2332 | 93256 | | | | ORPHA | 1 | | 338 | 3775 | 309550 |
HP:0012332 | HP:0006837 | Congenital Horner syndrome | 2 | GABBR2 CL E G H | 9568 | 617903 | NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS | 617903 | CN870852 | OMIM | 1 | | 682 | 4507 | 607340 |
HP:0012332 | HP:0005307 | Postural hypotension with compensatory tachycardia | 2 | GABBR2 CL E G H | 9568 | 617903 | NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS | 617903 | CN870852 | OMIM | 1 | | 682 | 4507 | 607340 |
HP:0012332 | HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | 2 | GABBR2 CL E G H | 9568 | 617903 | NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS | 617903 | CN870852 | OMIM | 1 | | 682 | 4507 | 607340 |
HP:0012332 | HP:0005307 | Postural hypotension with compensatory tachycardia | 2 | GLA CL E G H | 2717 | 301500 | Fabry disease | 301500 | C0002986 | OMIM | 1 | | 1002 | 4296 | 300644 |
HP:0012332 | HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | 2 | GLA CL E G H | 2717 | 301500 | Fabry disease | 301500 | C0002986 | OMIM | 1 | | 1002 | 4296 | 300644 |
HP:0012332 | HP:0006837 | Congenital Horner syndrome | 2 | GLA CL E G H | 2717 | 301500 | Fabry disease | 301500 | C0002986 | OMIM | 1 | | 1002 | 4296 | 300644 |
HP:0012332 | HP:0005307 | Postural hypotension with compensatory tachycardia | 2 | LIFR CL E G H | 3977 | 3206 | | | | ORPHA | 1 | | 721 | 6597 | 151443 |
HP:0012332 | HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | 2 | LIFR CL E G H | 3977 | 3206 | | | | ORPHA | 1 | | 721 | 6597 | 151443 |
HP:0012332 | HP:0006837 | Congenital Horner syndrome | 2 | LIFR CL E G H | 3977 | 3206 | | | | ORPHA | 1 | | 721 | 6597 | 151443 |
HP:0012332 | HP:0005307 | Postural hypotension with compensatory tachycardia | 2 | LIFR CL E G H | 3977 | 601559 | Stuve-Wiedemann syndrome | 601559 | C0796176 | OMIM | 1 | | 721 | 6597 | 151443 |
HP:0012332 | HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | 2 | LIFR CL E G H | 3977 | 601559 | Stuve-Wiedemann syndrome | 601559 | C0796176 | OMIM | 1 | | 721 | 6597 | 151443 |
HP:0012332 | HP:0006837 | Congenital Horner syndrome | 2 | LIFR CL E G H | 3977 | 601559 | Stuve-Wiedemann syndrome | 601559 | C0796176 | OMIM | 1 | | 721 | 6597 | 151443 |
HP:0012332 | HP:0005307 | Postural hypotension with compensatory tachycardia | 2 | PHOX2B CL E G H | 8929 | 99803 | Haddad syndrome | | C1859587 | ORPHA | 1 | | 840 | 9143 | 603851 |
HP:0012332 | HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | 2 | PHOX2B CL E G H | 8929 | 99803 | Haddad syndrome | | C1859587 | ORPHA | 1 | | 840 | 9143 | 603851 |
HP:0012332 | HP:0006837 | Congenital Horner syndrome | 2 | PHOX2B CL E G H | 8929 | 99803 | Haddad syndrome | | C1859587 | ORPHA | 1 | | 840 | 9143 | 603851 |
HP:0012332 | HP:0005307 | Postural hypotension with compensatory tachycardia | 2 | PRNP CL E G H | 5621 | 282166 | | | | ORPHA | 1 | | 164 | 9449 | 176640 |
HP:0012332 | HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | 2 | PRNP CL E G H | 5621 | 282166 | | | | ORPHA | 1 | | 164 | 9449 | 176640 |
HP:0012332 | HP:0006837 | Congenital Horner syndrome | 2 | PRNP CL E G H | 5621 | 282166 | | | | ORPHA | 1 | | 164 | 9449 | 176640 |
HP:0012332 | HP:0006837 | Congenital Horner syndrome | 2 | PRNP CL E G H | 5621 | 600072 | Fatal familial insomnia | 600072 | C0206042 | OMIM | 1 | | 164 | 9449 | 176640 |
HP:0012332 | HP:0005307 | Postural hypotension with compensatory tachycardia | 2 | PRNP CL E G H | 5621 | 600072 | Fatal familial insomnia | 600072 | C0206042 | OMIM | 1 | | 164 | 9449 | 176640 |
HP:0012332 | HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | 2 | PRNP CL E G H | 5621 | 600072 | Fatal familial insomnia | 600072 | C0206042 | OMIM | 1 | | 164 | 9449 | 176640 |
HP:0012332 | HP:0006837 | Congenital Horner syndrome | 2 | RET CL E G H | 5979 | 99803 | Haddad syndrome | | C1859587 | ORPHA | 1 | | 2692 | 9967 | 164761 |
HP:0012332 | HP:0005307 | Postural hypotension with compensatory tachycardia | 2 | RET CL E G H | 5979 | 99803 | Haddad syndrome | | C1859587 | ORPHA | 1 | | 2692 | 9967 | 164761 |
HP:0012332 | HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | 2 | RET CL E G H | 5979 | 99803 | Haddad syndrome | | C1859587 | ORPHA | 1 | | 2692 | 9967 | 164761 |
HP:0012332 | HP:0005307 | Postural hypotension with compensatory tachycardia | 2 | SCN11A CL E G H | 11280 | 615552 | Episodic pain syndrome, familial, 3 | 615552 | C3809899 | OMIM | 1 | | 1004 | 10583 | 604385 |
HP:0012332 | HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | 2 | SCN11A CL E G H | 11280 | 615552 | Episodic pain syndrome, familial, 3 | 615552 | C3809899 | OMIM | 1 | | 1004 | 10583 | 604385 |
HP:0012332 | HP:0006837 | Congenital Horner syndrome | 2 | SCN11A CL E G H | 11280 | 615552 | Episodic pain syndrome, familial, 3 | 615552 | C3809899 | OMIM | 1 | | 1004 | 10583 | 604385 |
HP:0012332 | HP:0006837 | Congenital Horner syndrome | 2 | SCN11A CL E G H | 11280 | 615548 | Neuropathy, hereditary sensory and autonomic, type VII | 615548 | C3809882 | OMIM | 1 | | 1004 | 10583 | 604385 |
HP:0012332 | HP:0005307 | Postural hypotension with compensatory tachycardia | 2 | SCN11A CL E G H | 11280 | 615548 | Neuropathy, hereditary sensory and autonomic, type VII | 615548 | C3809882 | OMIM | 1 | | 1004 | 10583 | 604385 |
HP:0012332 | HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | 2 | SCN11A CL E G H | 11280 | 615548 | Neuropathy, hereditary sensory and autonomic, type VII | 615548 | C3809882 | OMIM | 1 | | 1004 | 10583 | 604385 |
HP:0012332 | HP:0005307 | Postural hypotension with compensatory tachycardia | 2 | SCN3A CL E G H | 6328 | 617935 | EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4 | 617935 | CN244552 | OMIM | 1 | | 1096 | 10590 | 182391 |
HP:0012332 | HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | 2 | SCN3A CL E G H | 6328 | 617935 | EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4 | 617935 | CN244552 | OMIM | 1 | | 1096 | 10590 | 182391 |
HP:0012332 | HP:0006837 | Congenital Horner syndrome | 2 | SCN3A CL E G H | 6328 | 617935 | EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4 | 617935 | CN244552 | OMIM | 1 | | 1096 | 10590 | 182391 |
HP:0012332 | HP:0005307 | Postural hypotension with compensatory tachycardia | 2 | SCN9A CL E G H | 6335 | 243000 | Indifference to pain, congenital, autosomal recessive | 243000 | C1855739 | OMIM | 1 | | 1907 | 10597 | 603415 |
HP:0012332 | HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | 2 | SCN9A CL E G H | 6335 | 243000 | Indifference to pain, congenital, autosomal recessive | 243000 | C1855739 | OMIM | 1 | | 1907 | 10597 | 603415 |
HP:0012332 | HP:0006837 | Congenital Horner syndrome | 2 | SCN9A CL E G H | 6335 | 243000 | Indifference to pain, congenital, autosomal recessive | 243000 | C1855739 | OMIM | 1 | | 1907 | 10597 | 603415 |
HP:0012332 | HP:0006837 | Congenital Horner syndrome | 2 | SLC18A2 CL E G H | 6571 | 618049 | PARKINSONISM-DYSTONIA, INFANTILE, 2 | 618049 | CN248785 | OMIM | 1 | | 124 | 10935 | 193001 |
HP:0012332 | HP:0005307 | Postural hypotension with compensatory tachycardia | 2 | SLC18A2 CL E G H | 6571 | 618049 | PARKINSONISM-DYSTONIA, INFANTILE, 2 | 618049 | CN248785 | OMIM | 1 | | 124 | 10935 | 193001 |
HP:0012332 | HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | 2 | SLC18A2 CL E G H | 6571 | 618049 | PARKINSONISM-DYSTONIA, INFANTILE, 2 | 618049 | CN248785 | OMIM | 1 | | 124 | 10935 | 193001 |
HP:0012332 | HP:0006837 | Congenital Horner syndrome | 2 | SNCA CL E G H | 6622 | 171695 | | | | ORPHA | 1 | | 177 | 11138 | 163890 |
HP:0012332 | HP:0005307 | Postural hypotension with compensatory tachycardia | 2 | SNCA CL E G H | 6622 | 171695 | | | | ORPHA | 1 | | 177 | 11138 | 163890 |
HP:0012332 | HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | 2 | SNCA CL E G H | 6622 | 171695 | | | | ORPHA | 1 | | 177 | 11138 | 163890 |
HP:0012332 | HP:0006837 | Congenital Horner syndrome | 2 | SOX10 CL E G H | 6663 | 609136 | Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease | 609136 | C1836727 | OMIM | 1 | | 302 | 11190 | 602229 |
HP:0012332 | HP:0005307 | Postural hypotension with compensatory tachycardia | 2 | SOX10 CL E G H | 6663 | 609136 | Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease | 609136 | C1836727 | OMIM | 1 | | 302 | 11190 | 602229 |
HP:0012332 | HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | 2 | SOX10 CL E G H | 6663 | 609136 | Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease | 609136 | C1836727 | OMIM | 1 | | 302 | 11190 | 602229 |
HP:0012332 | HP:0005307 | Postural hypotension with compensatory tachycardia | 2 | TCF4 CL E G H | 6925 | 610954 | Pitt-Hopkins syndrome | 610954 | C1970431 | OMIM | 1 | | 913 | 11634 | 602272 |
HP:0012332 | HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | 2 | TCF4 CL E G H | 6925 | 610954 | Pitt-Hopkins syndrome | 610954 | C1970431 | OMIM | 1 | | 913 | 11634 | 602272 |
HP:0012332 | HP:0006837 | Congenital Horner syndrome | 2 | TCF4 CL E G H | 6925 | 610954 | Pitt-Hopkins syndrome | 610954 | C1970431 | OMIM | 1 | | 913 | 11634 | 602272 |
HP:0012332 | HP:0006837 | Congenital Horner syndrome | 2 | TSPYL1 CL E G H | 7259 | 168593 | | | | ORPHA | 1 | | 48 | 12382 | 604714 |
HP:0012332 | HP:0005307 | Postural hypotension with compensatory tachycardia | 2 | TSPYL1 CL E G H | 7259 | 168593 | | | | ORPHA | 1 | | 48 | 12382 | 604714 |
HP:0012332 | HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | 2 | TSPYL1 CL E G H | 7259 | 168593 | | | | ORPHA | 1 | | 48 | 12382 | 604714 |
HP:0012332 | HP:0006837 | Congenital Horner syndrome | 2 | TTR CL E G H | 7276 | 85447 | | | | ORPHA | 1 | | 341 | 12405 | 176300 |
HP:0012332 | HP:0005307 | Postural hypotension with compensatory tachycardia | 2 | TTR CL E G H | 7276 | 85447 | | | | ORPHA | 1 | | 341 | 12405 | 176300 |
HP:0012332 | HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | 2 | TTR CL E G H | 7276 | 85447 | | | | ORPHA | 1 | | 341 | 12405 | 176300 |
HP:0012332 | HP:0005307 | Postural hypotension with compensatory tachycardia | 2 | TXN2 CL E G H | 25828 | 478029 | | | | ORPHA | 1 | | 50 | 17772 | 609063 |
HP:0012332 | HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | 2 | TXN2 CL E G H | 25828 | 478029 | | | | ORPHA | 1 | | 50 | 17772 | 609063 |
HP:0012332 | HP:0006837 | Congenital Horner syndrome | 2 | TXN2 CL E G H | 25828 | 478029 | | | | ORPHA | 1 | | 50 | 17772 | 609063 |
HP:0012332 | HP:0006837 | Congenital Horner syndrome | 2 | VPS11 CL E G H | 55823 | 466934 | | | | ORPHA | 1 | | 139 | 14583 | 608549 |
HP:0012332 | HP:0005307 | Postural hypotension with compensatory tachycardia | 2 | VPS11 CL E G H | 55823 | 466934 | | | | ORPHA | 1 | | 139 | 14583 | 608549 |
HP:0012332 | HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | 2 | VPS11 CL E G H | 55823 | 466934 | | | | ORPHA | 1 | | 139 | 14583 | 608549 |
HP:0012332 | HP:0006837 | Congenital Horner syndrome | 2 | VPS11 CL E G H | 55823 | 616683 | Leukodystrophy, hypomyelinating, 12 | 616683 | C4225247 | OMIM | 1 | | 139 | 14583 | 608549 |
HP:0012332 | HP:0005307 | Postural hypotension with compensatory tachycardia | 2 | VPS11 CL E G H | 55823 | 616683 | Leukodystrophy, hypomyelinating, 12 | 616683 | C4225247 | OMIM | 1 | | 139 | 14583 | 608549 |
HP:0012332 | HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | 2 | VPS11 CL E G H | 55823 | 616683 | Leukodystrophy, hypomyelinating, 12 | 616683 | C4225247 | OMIM | 1 | | 139 | 14583 | 608549 |
HP:0012332 | HP:0005307 | Postural hypotension with compensatory tachycardia | 2 | WDR45 CL E G H | 11152 | 329284 | | | | ORPHA | 1 | | 504 | 28912 | 300526 |
HP:0012332 | HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | 2 | WDR45 CL E G H | 11152 | 329284 | | | | ORPHA | 1 | | 504 | 28912 | 300526 |
HP:0012332 | HP:0006837 | Congenital Horner syndrome | 2 | WDR45 CL E G H | 11152 | 329284 | | | | ORPHA | 1 | | 504 | 28912 | 300526 |
HP:0012332 | HP:0006837 | Congenital Horner syndrome | 2 | WDR45 CL E G H | 11152 | 300894 | Neurodegeneration with brain iron accumulation 5 | 300894 | C3550973 | OMIM | 1 | | 504 | 28912 | 300526 |
HP:0012332 | HP:0005307 | Postural hypotension with compensatory tachycardia | 2 | WDR45 CL E G H | 11152 | 300894 | Neurodegeneration with brain iron accumulation 5 | 300894 | C3550973 | OMIM | 1 | | 504 | 28912 | 300526 |
HP:0012332 | HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | 2 | WDR45 CL E G H | 11152 | 300894 | Neurodegeneration with brain iron accumulation 5 | 300894 | C3550973 | OMIM | 1 | | 504 | 28912 | 300526 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | ATXN3 CL E G H | 4287 | 109150 | Azorean disease | 109150 | C0024408 | OMIM | 0 | | 46 | 7106 | 607047 |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | CISD2 CL E G H | 493856 | 3463 | | | | ORPHA | 0 | | 46 | 24212 | 611507 |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | NR4A2 CL E G H | 4929 | 168600 | Parkinson disease, late-onset | 168600 | C3160718 | OMIM | 0 | | 112 | 7981 | 601828 |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | SCN9A CL E G H | 6335 | 133020 | Primary erythromelalgia | 133020 | C0014805 | OMIM | 0 | | 1907 | 10597 | 603415 |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | SLC52A2 CL E G H | 79581 | 97229 | | | | ORPHA | 0 | | 458 | 30224 | 607882 |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | SLC52A3 CL E G H | 113278 | 97229 | | | | ORPHA | 0 | | 399 | 16187 | 613350 |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | SNCAIP CL E G H | 9627 | 168600 | Parkinson disease, late-onset | 168600 | C3160718 | OMIM | 0 | | 118 | 11139 | 603779 |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | TUBB3 CL E G H | 10381 | 300570 | | | | ORPHA | 0 | | 247 | 20772 | 602661 |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | VPS13C CL E G H | 54832 | 616840 | Parkinson disease 23, autosomal recessive early-onset | 616840 | C4225186 | OMIM | 0 | | 521 | 23594 | 608879 |
HP:0012332 | HP:0012332 | Abnormal autonomic nervous system physiology | 0 | WFS1 CL E G H | 7466 | 3463 | | | | ORPHA | 0 | | 1268 | 12762 | 606201 |
HP:0012332 | HP:0012173 | Orthostatic tachycardia | 1 | ATXN3 CL E G H | 4287 | 109150 | Azorean disease | 109150 | C0024408 | OMIM | 0 | | 46 | 7106 | 607047 |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | ATXN3 CL E G H | 4287 | 109150 | Azorean disease | 109150 | C0024408 | OMIM | 0 | | 46 | 7106 | 607047 |
HP:0012332 | HP:0005341 | Autonomic bladder dysfunction | 1 | ATXN3 CL E G H | 4287 | 109150 | Azorean disease | 109150 | C0024408 | OMIM | 0 | | 46 | 7106 | 607047 |
HP:0012332 | HP:0002277 | Horner syndrome | 1 | ATXN3 CL E G H | 4287 | 109150 | Azorean disease | 109150 | C0024408 | OMIM | 0 | | 46 | 7106 | 607047 |
HP:0012332 | HP:0012333 | Abnormal sudomotor regulation | 1 | ATXN3 CL E G H | 4287 | 109150 | Azorean disease | 109150 | C0024408 | OMIM | 0 | | 46 | 7106 | 607047 |
HP:0012332 | HP:0008652 | Autonomic erectile dysfunction | 1 | ATXN3 CL E G H | 4287 | 109150 | Azorean disease | 109150 | C0024408 | OMIM | 0 | | 46 | 7106 | 607047 |
HP:0012332 | HP:0012173 | Orthostatic tachycardia | 1 | CISD2 CL E G H | 493856 | 3463 | | | | ORPHA | 0 | | 46 | 24212 | 611507 |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | CISD2 CL E G H | 493856 | 3463 | | | | ORPHA | 0 | | 46 | 24212 | 611507 |
HP:0012332 | HP:0002277 | Horner syndrome | 1 | CISD2 CL E G H | 493856 | 3463 | | | | ORPHA | 0 | | 46 | 24212 | 611507 |
HP:0012332 | HP:0005341 | Autonomic bladder dysfunction | 1 | CISD2 CL E G H | 493856 | 3463 | | | | ORPHA | 0 | | 46 | 24212 | 611507 |
HP:0012332 | HP:0012333 | Abnormal sudomotor regulation | 1 | CISD2 CL E G H | 493856 | 3463 | | | | ORPHA | 0 | | 46 | 24212 | 611507 |
HP:0012332 | HP:0008652 | Autonomic erectile dysfunction | 1 | CISD2 CL E G H | 493856 | 3463 | | | | ORPHA | 0 | | 46 | 24212 | 611507 |
HP:0012332 | HP:0012173 | Orthostatic tachycardia | 1 | NR4A2 CL E G H | 4929 | 168600 | Parkinson disease, late-onset | 168600 | C3160718 | OMIM | 0 | | 112 | 7981 | 601828 |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | NR4A2 CL E G H | 4929 | 168600 | Parkinson disease, late-onset | 168600 | C3160718 | OMIM | 0 | | 112 | 7981 | 601828 |
HP:0012332 | HP:0002277 | Horner syndrome | 1 | NR4A2 CL E G H | 4929 | 168600 | Parkinson disease, late-onset | 168600 | C3160718 | OMIM | 0 | | 112 | 7981 | 601828 |
HP:0012332 | HP:0005341 | Autonomic bladder dysfunction | 1 | NR4A2 CL E G H | 4929 | 168600 | Parkinson disease, late-onset | 168600 | C3160718 | OMIM | 0 | | 112 | 7981 | 601828 |
HP:0012332 | HP:0012333 | Abnormal sudomotor regulation | 1 | NR4A2 CL E G H | 4929 | 168600 | Parkinson disease, late-onset | 168600 | C3160718 | OMIM | 0 | | 112 | 7981 | 601828 |
HP:0012332 | HP:0008652 | Autonomic erectile dysfunction | 1 | NR4A2 CL E G H | 4929 | 168600 | Parkinson disease, late-onset | 168600 | C3160718 | OMIM | 0 | | 112 | 7981 | 601828 |
HP:0012332 | HP:0012333 | Abnormal sudomotor regulation | 1 | SCN9A CL E G H | 6335 | 133020 | Primary erythromelalgia | 133020 | C0014805 | OMIM | 0 | | 1907 | 10597 | 603415 |
HP:0012332 | HP:0008652 | Autonomic erectile dysfunction | 1 | SCN9A CL E G H | 6335 | 133020 | Primary erythromelalgia | 133020 | C0014805 | OMIM | 0 | | 1907 | 10597 | 603415 |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | SCN9A CL E G H | 6335 | 133020 | Primary erythromelalgia | 133020 | C0014805 | OMIM | 0 | | 1907 | 10597 | 603415 |
HP:0012332 | HP:0012173 | Orthostatic tachycardia | 1 | SCN9A CL E G H | 6335 | 133020 | Primary erythromelalgia | 133020 | C0014805 | OMIM | 0 | | 1907 | 10597 | 603415 |
HP:0012332 | HP:0002277 | Horner syndrome | 1 | SCN9A CL E G H | 6335 | 133020 | Primary erythromelalgia | 133020 | C0014805 | OMIM | 0 | | 1907 | 10597 | 603415 |
HP:0012332 | HP:0005341 | Autonomic bladder dysfunction | 1 | SCN9A CL E G H | 6335 | 133020 | Primary erythromelalgia | 133020 | C0014805 | OMIM | 0 | | 1907 | 10597 | 603415 |
HP:0012332 | HP:0012173 | Orthostatic tachycardia | 1 | SLC52A2 CL E G H | 79581 | 97229 | | | | ORPHA | 0 | | 458 | 30224 | 607882 |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | SLC52A2 CL E G H | 79581 | 97229 | | | | ORPHA | 0 | | 458 | 30224 | 607882 |
HP:0012332 | HP:0005341 | Autonomic bladder dysfunction | 1 | SLC52A2 CL E G H | 79581 | 97229 | | | | ORPHA | 0 | | 458 | 30224 | 607882 |
HP:0012332 | HP:0002277 | Horner syndrome | 1 | SLC52A2 CL E G H | 79581 | 97229 | | | | ORPHA | 0 | | 458 | 30224 | 607882 |
HP:0012332 | HP:0012333 | Abnormal sudomotor regulation | 1 | SLC52A2 CL E G H | 79581 | 97229 | | | | ORPHA | 0 | | 458 | 30224 | 607882 |
HP:0012332 | HP:0008652 | Autonomic erectile dysfunction | 1 | SLC52A2 CL E G H | 79581 | 97229 | | | | ORPHA | 0 | | 458 | 30224 | 607882 |
HP:0012332 | HP:0012333 | Abnormal sudomotor regulation | 1 | SLC52A3 CL E G H | 113278 | 97229 | | | | ORPHA | 0 | | 399 | 16187 | 613350 |
HP:0012332 | HP:0008652 | Autonomic erectile dysfunction | 1 | SLC52A3 CL E G H | 113278 | 97229 | | | | ORPHA | 0 | | 399 | 16187 | 613350 |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | SLC52A3 CL E G H | 113278 | 97229 | | | | ORPHA | 0 | | 399 | 16187 | 613350 |
HP:0012332 | HP:0012173 | Orthostatic tachycardia | 1 | SLC52A3 CL E G H | 113278 | 97229 | | | | ORPHA | 0 | | 399 | 16187 | 613350 |
HP:0012332 | HP:0002277 | Horner syndrome | 1 | SLC52A3 CL E G H | 113278 | 97229 | | | | ORPHA | 0 | | 399 | 16187 | 613350 |
HP:0012332 | HP:0005341 | Autonomic bladder dysfunction | 1 | SLC52A3 CL E G H | 113278 | 97229 | | | | ORPHA | 0 | | 399 | 16187 | 613350 |
HP:0012332 | HP:0012333 | Abnormal sudomotor regulation | 1 | SNCAIP CL E G H | 9627 | 168600 | Parkinson disease, late-onset | 168600 | C3160718 | OMIM | 0 | | 118 | 11139 | 603779 |
HP:0012332 | HP:0008652 | Autonomic erectile dysfunction | 1 | SNCAIP CL E G H | 9627 | 168600 | Parkinson disease, late-onset | 168600 | C3160718 | OMIM | 0 | | 118 | 11139 | 603779 |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | SNCAIP CL E G H | 9627 | 168600 | Parkinson disease, late-onset | 168600 | C3160718 | OMIM | 0 | | 118 | 11139 | 603779 |
HP:0012332 | HP:0012173 | Orthostatic tachycardia | 1 | SNCAIP CL E G H | 9627 | 168600 | Parkinson disease, late-onset | 168600 | C3160718 | OMIM | 0 | | 118 | 11139 | 603779 |
HP:0012332 | HP:0002277 | Horner syndrome | 1 | SNCAIP CL E G H | 9627 | 168600 | Parkinson disease, late-onset | 168600 | C3160718 | OMIM | 0 | | 118 | 11139 | 603779 |
HP:0012332 | HP:0005341 | Autonomic bladder dysfunction | 1 | SNCAIP CL E G H | 9627 | 168600 | Parkinson disease, late-onset | 168600 | C3160718 | OMIM | 0 | | 118 | 11139 | 603779 |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | TUBB3 CL E G H | 10381 | 300570 | | | | ORPHA | 0 | | 247 | 20772 | 602661 |
HP:0012332 | HP:0012173 | Orthostatic tachycardia | 1 | TUBB3 CL E G H | 10381 | 300570 | | | | ORPHA | 0 | | 247 | 20772 | 602661 |
HP:0012332 | HP:0002277 | Horner syndrome | 1 | TUBB3 CL E G H | 10381 | 300570 | | | | ORPHA | 0 | | 247 | 20772 | 602661 |
HP:0012332 | HP:0005341 | Autonomic bladder dysfunction | 1 | TUBB3 CL E G H | 10381 | 300570 | | | | ORPHA | 0 | | 247 | 20772 | 602661 |
HP:0012332 | HP:0012333 | Abnormal sudomotor regulation | 1 | TUBB3 CL E G H | 10381 | 300570 | | | | ORPHA | 0 | | 247 | 20772 | 602661 |
HP:0012332 | HP:0008652 | Autonomic erectile dysfunction | 1 | TUBB3 CL E G H | 10381 | 300570 | | | | ORPHA | 0 | | 247 | 20772 | 602661 |
HP:0012332 | HP:0012333 | Abnormal sudomotor regulation | 1 | VPS13C CL E G H | 54832 | 616840 | Parkinson disease 23, autosomal recessive early-onset | 616840 | C4225186 | OMIM | 0 | | 521 | 23594 | 608879 |
HP:0012332 | HP:0008652 | Autonomic erectile dysfunction | 1 | VPS13C CL E G H | 54832 | 616840 | Parkinson disease 23, autosomal recessive early-onset | 616840 | C4225186 | OMIM | 0 | | 521 | 23594 | 608879 |
HP:0012332 | HP:0012173 | Orthostatic tachycardia | 1 | VPS13C CL E G H | 54832 | 616840 | Parkinson disease 23, autosomal recessive early-onset | 616840 | C4225186 | OMIM | 0 | | 521 | 23594 | 608879 |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | VPS13C CL E G H | 54832 | 616840 | Parkinson disease 23, autosomal recessive early-onset | 616840 | C4225186 | OMIM | 0 | | 521 | 23594 | 608879 |
HP:0012332 | HP:0002277 | Horner syndrome | 1 | VPS13C CL E G H | 54832 | 616840 | Parkinson disease 23, autosomal recessive early-onset | 616840 | C4225186 | OMIM | 0 | | 521 | 23594 | 608879 |
HP:0012332 | HP:0005341 | Autonomic bladder dysfunction | 1 | VPS13C CL E G H | 54832 | 616840 | Parkinson disease 23, autosomal recessive early-onset | 616840 | C4225186 | OMIM | 0 | | 521 | 23594 | 608879 |
HP:0012332 | HP:0012333 | Abnormal sudomotor regulation | 1 | WFS1 CL E G H | 7466 | 3463 | | | | ORPHA | 0 | | 1268 | 12762 | 606201 |
HP:0012332 | HP:0008652 | Autonomic erectile dysfunction | 1 | WFS1 CL E G H | 7466 | 3463 | | | | ORPHA | 0 | | 1268 | 12762 | 606201 |
HP:0012332 | HP:0001278 | Orthostatic hypotension | 1 | WFS1 CL E G H | 7466 | 3463 | | | | ORPHA | 0 | | 1268 | 12762 | 606201 |
HP:0012332 | HP:0012173 | Orthostatic tachycardia | 1 | WFS1 CL E G H | 7466 | 3463 | | | | ORPHA | 0 | | 1268 | 12762 | 606201 |
HP:0012332 | HP:0002277 | Horner syndrome | 1 | WFS1 CL E G H | 7466 | 3463 | | | | ORPHA | 0 | | 1268 | 12762 | 606201 |
HP:0012332 | HP:0005341 | Autonomic bladder dysfunction | 1 | WFS1 CL E G H | 7466 | 3463 | | | | ORPHA | 0 | | 1268 | 12762 | 606201 |
HP:0012332 | HP:0006837 | Congenital Horner syndrome | 2 | ATXN3 CL E G H | 4287 | 109150 | Azorean disease | 109150 | C0024408 | OMIM | 0 | | 46 | 7106 | 607047 |
HP:0012332 | HP:0005307 | Postural hypotension with compensatory tachycardia | 2 | ATXN3 CL E G H | 4287 | 109150 | Azorean disease | 109150 | C0024408 | OMIM | 0 | | 46 | 7106 | 607047 |
HP:0012332 | HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | 2 | ATXN3 CL E G H | 4287 | 109150 | Azorean disease | 109150 | C0024408 | OMIM | 0 | | 46 | 7106 | 607047 |
HP:0012332 | HP:0006837 | Congenital Horner syndrome | 2 | CISD2 CL E G H | 493856 | 3463 | | | | ORPHA | 0 | | 46 | 24212 | 611507 |
HP:0012332 | HP:0005307 | Postural hypotension with compensatory tachycardia | 2 | CISD2 CL E G H | 493856 | 3463 | | | | ORPHA | 0 | | 46 | 24212 | 611507 |
HP:0012332 | HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | 2 | CISD2 CL E G H | 493856 | 3463 | | | | ORPHA | 0 | | 46 | 24212 | 611507 |
HP:0012332 | HP:0006837 | Congenital Horner syndrome | 2 | NR4A2 CL E G H | 4929 | 168600 | Parkinson disease, late-onset | 168600 | C3160718 | OMIM | 0 | | 112 | 7981 | 601828 |
HP:0012332 | HP:0005307 | Postural hypotension with compensatory tachycardia | 2 | NR4A2 CL E G H | 4929 | 168600 | Parkinson disease, late-onset | 168600 | C3160718 | OMIM | 0 | | 112 | 7981 | 601828 |
HP:0012332 | HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | 2 | NR4A2 CL E G H | 4929 | 168600 | Parkinson disease, late-onset | 168600 | C3160718 | OMIM | 0 | | 112 | 7981 | 601828 |
HP:0012332 | HP:0005307 | Postural hypotension with compensatory tachycardia | 2 | SCN9A CL E G H | 6335 | 133020 | Primary erythromelalgia | 133020 | C0014805 | OMIM | 0 | | 1907 | 10597 | 603415 |
HP:0012332 | HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | 2 | SCN9A CL E G H | 6335 | 133020 | Primary erythromelalgia | 133020 | C0014805 | OMIM | 0 | | 1907 | 10597 | 603415 |
HP:0012332 | HP:0006837 | Congenital Horner syndrome | 2 | SCN9A CL E G H | 6335 | 133020 | Primary erythromelalgia | 133020 | C0014805 | OMIM | 0 | | 1907 | 10597 | 603415 |
HP:0012332 | HP:0006837 | Congenital Horner syndrome | 2 | SLC52A2 CL E G H | 79581 | 97229 | | | | ORPHA | 0 | | 458 | 30224 | 607882 |
HP:0012332 | HP:0005307 | Postural hypotension with compensatory tachycardia | 2 | SLC52A2 CL E G H | 79581 | 97229 | | | | ORPHA | 0 | | 458 | 30224 | 607882 |
HP:0012332 | HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | 2 | SLC52A2 CL E G H | 79581 | 97229 | | | | ORPHA | 0 | | 458 | 30224 | 607882 |
HP:0012332 | HP:0005307 | Postural hypotension with compensatory tachycardia | 2 | SLC52A3 CL E G H | 113278 | 97229 | | | | ORPHA | 0 | | 399 | 16187 | 613350 |
HP:0012332 | HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | 2 | SLC52A3 CL E G H | 113278 | 97229 | | | | ORPHA | 0 | | 399 | 16187 | 613350 |
HP:0012332 | HP:0006837 | Congenital Horner syndrome | 2 | SLC52A3 CL E G H | 113278 | 97229 | | | | ORPHA | 0 | | 399 | 16187 | 613350 |
HP:0012332 | HP:0005307 | Postural hypotension with compensatory tachycardia | 2 | SNCAIP CL E G H | 9627 | 168600 | Parkinson disease, late-onset | 168600 | C3160718 | OMIM | 0 | | 118 | 11139 | 603779 |
HP:0012332 | HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | 2 | SNCAIP CL E G H | 9627 | 168600 | Parkinson disease, late-onset | 168600 | C3160718 | OMIM | 0 | | 118 | 11139 | 603779 |
HP:0012332 | HP:0006837 | Congenital Horner syndrome | 2 | SNCAIP CL E G H | 9627 | 168600 | Parkinson disease, late-onset | 168600 | C3160718 | OMIM | 0 | | 118 | 11139 | 603779 |
HP:0012332 | HP:0006837 | Congenital Horner syndrome | 2 | TUBB3 CL E G H | 10381 | 300570 | | | | ORPHA | 0 | | 247 | 20772 | 602661 |
HP:0012332 | HP:0005307 | Postural hypotension with compensatory tachycardia | 2 | TUBB3 CL E G H | 10381 | 300570 | | | | ORPHA | 0 | | 247 | 20772 | 602661 |
HP:0012332 | HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | 2 | TUBB3 CL E G H | 10381 | 300570 | | | | ORPHA | 0 | | 247 | 20772 | 602661 |
HP:0012332 | HP:0005307 | Postural hypotension with compensatory tachycardia | 2 | VPS13C CL E G H | 54832 | 616840 | Parkinson disease 23, autosomal recessive early-onset | 616840 | C4225186 | OMIM | 0 | | 521 | 23594 | 608879 |
HP:0012332 | HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | 2 | VPS13C CL E G H | 54832 | 616840 | Parkinson disease 23, autosomal recessive early-onset | 616840 | C4225186 | OMIM | 0 | | 521 | 23594 | 608879 |
HP:0012332 | HP:0006837 | Congenital Horner syndrome | 2 | VPS13C CL E G H | 54832 | 616840 | Parkinson disease 23, autosomal recessive early-onset | 616840 | C4225186 | OMIM | 0 | | 521 | 23594 | 608879 |
HP:0012332 | HP:0005307 | Postural hypotension with compensatory tachycardia | 2 | WFS1 CL E G H | 7466 | 3463 | | | | ORPHA | 0 | | 1268 | 12762 | 606201 |
HP:0012332 | HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | 2 | WFS1 CL E G H | 7466 | 3463 | | | | ORPHA | 0 | | 1268 | 12762 | 606201 |
HP:0012332 | HP:0006837 | Congenital Horner syndrome | 2 | WFS1 CL E G H | 7466 | 3463 | | | | ORPHA | 0 | | 1268 | 12762 | 606201 |