Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | AAAS CL E G H | 8086 | 13666 | OMIM:231550 | Achalasia-Addisonianism-Alacrima syndrome | | | | 57 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | AAAS CL E G H | 8086 | 13666 | ORPHA:869 | Triple A syndrome | | | | 57 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | ACTA2 CL E G H | 59 | 130 | OMIM:613834 | Multisystemic smooth muscle dysfunction syndrome | | | | 94 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | ACTB CL E G H | 60 | 132 | ORPHA:79107 | Developmental malformations-deafness-dystonia syndrome | | | | 72 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | ACTB CL E G H | 60 | 132 | OMIM:607371 | Dystonia, juvenile-onset | | | | 72 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | ACTG2 CL E G H | 72 | 145 | ORPHA:2241 | Megacystis-microcolon-intestinal hypoperistalsis syndrome | | | | 23 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | ACTG2 CL E G H | 72 | 145 | OMIM:155310 | Visceral myopathy 1 | | | | 23 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | ATP1A2 CL E G H | 477 | 800 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040281 - Very frequent | | | 239 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | ATP1A3 CL E G H | 478 | 801 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040281 - Very frequent | | | 150 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | BRCA1 CL E G H | 672 | 1100 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 5769 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | BRCA2 CL E G H | 675 | 1101 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 7642 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | CACNA1A CL E G H | 773 | 1388 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040281 - Very frequent | | | 449 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | CAMK2A CL E G H | 815 | 1460 | OMIM:617798 | Mental retardation, autosomal dominant 53 | | | | 1 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | CAMK2B CL E G H | 816 | 1461 | OMIM:617799 | Mental retardation, autosomal dominant 54 | | | | | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | CAVIN1 CL E G H | 284119 | 9688 | OMIM:613327 | Lipodystrophy, congenital generalized, type 4 | | | | 48 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | CDK4 CL E G H | 1019 | 1773 | ORPHA:99971 | Well-differentiated liposarcoma | HP:0040283 - Occasional | | | 145 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 289 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | CEACAM3 CL E G H | 1084 | 1815 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | CEACAM6 CL E G H | 4680 | 1818 | ORPHA:586 | Cystic fibrosis | | | | 1 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | CFTR CL E G H | 1080 | 1884 | OMIM:219700 | Cystic fibrosis | | | | 1371 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | CFTR CL E G H | 1080 | 1884 | ORPHA:586 | Cystic fibrosis | | | | 1371 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | CLCA4 CL E G H | 22802 | 2018 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | CLMP CL E G H | 79827 | 24039 | OMIM:615237 | Congenital short bowel syndrome | | | | 7 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | COL4A5 CL E G H | 1287 | 2207 | ORPHA:1018 | X-linked Alport syndrome-diffuse leiomyomatosis | | | | 678 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | COL4A6 CL E G H | 1288 | 2208 | ORPHA:1018 | X-linked Alport syndrome-diffuse leiomyomatosis | | | | 18 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | COX1 CL E G H | 4512 | 7419 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | COX2 CL E G H | 4513 | 7421 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | COX3 CL E G H | 4514 | 7422 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | CPOX CL E G H | 1371 | 2321 | ORPHA:79273 | Hereditary coproporphyria | | | | 72 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | DCTN4 CL E G H | 51164 | 15518 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | DDIT3 CL E G H | 1649 | 2726 | ORPHA:99967 | Myxoid/round cell liposarcoma | HP:0040283 - Occasional | | | | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | EDNRA CL E G H | 1909 | 3179 | ORPHA:586 | Cystic fibrosis | | | | 3 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | ERBB3 CL E G H | 2065 | 3431 | OMIM:243180 | Visceral neuropathy, familial, autosomal recessive | | | | 12 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | EWSR1 CL E G H | 2130 | 3508 | ORPHA:83469 | Desmoplastic small round cell tumor | | | | | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | FAH CL E G H | 2184 | 3579 | OMIM:276700 | Tyrosinemia, type I | | | | 107 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | FCGR2A CL E G H | 2212 | 3616 | OMIM:219700 | Cystic fibrosis | | | | 6 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:300048 | Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked | | | | 493 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | FLVCR1 CL E G H | 28982 | 24682 | OMIM:609033 | Ataxia, posterior column, with retinitis pigmentosa | | | | 111 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | FLVCR1 CL E G H | 28982 | 24682 | ORPHA:88628 | Posterior column ataxia-retinitis pigmentosa syndrome | HP:0040283 - Occasional | | | 111 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | FOXP3 CL E G H | 50943 | 6106 | ORPHA:37042 | Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome | | | | 32 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | FOXP3 CL E G H | 50943 | 6106 | OMIM:304790 | Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked | | | | 32 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | FUS CL E G H | 2521 | 4010 | ORPHA:99967 | Myxoid/round cell liposarcoma | HP:0040283 - Occasional | | | 105 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | GCLC CL E G H | 2729 | 4311 | ORPHA:586 | Cystic fibrosis | | | | 2 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | GLA CL E G H | 2717 | 4296 | ORPHA:324 | Fabry disease | | | | 291 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | GMPPA CL E G H | 29926 | 22923 | OMIM:615510 | Alacrima, achalasia, and mental retardation syndrome | | | | 24 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | GMPPA CL E G H | 29926 | 22923 | ORPHA:869 | Triple A syndrome | | | | 24 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | GSTM3 CL E G H | 2947 | 4635 | ORPHA:586 | Cystic fibrosis | | | | 1 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | GUCY1A1 CL E G H | 2982 | 4685 | OMIM:615750 | Moyamoya disease 6 with achalasia | | | | | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | GUCY2C CL E G H | 2984 | 4688 | OMIM:614665 | Meconium ileus | | | | 12 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | HFE CL E G H | 3077 | 4886 | ORPHA:586 | Cystic fibrosis | | | | 38 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | HMBS CL E G H | 3145 | 4982 | ORPHA:79276 | Acute intermittent porphyria | | | | 81 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | HMBS CL E G H | 3145 | 4982 | OMIM:176000 | Porphyria, acute intermittent | | | | 81 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | HMGA2 CL E G H | 8091 | 5009 | ORPHA:99971 | Well-differentiated liposarcoma | HP:0040283 - Occasional | | | 2 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | HMOX1 CL E G H | 3162 | 5013 | ORPHA:586 | Cystic fibrosis | | | | 3 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:352665 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion | HP:0040283 - Occasional | | | 8 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:453504 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation | HP:0040283 - Occasional | | | 8 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | HSD17B10 CL E G H | 3028 | 4800 | ORPHA:391428 | HSD10 disease, infantile type | HP:0040283 - Occasional | | | 19 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | IARS2 CL E G H | 55699 | 29685 | ORPHA:436174 | Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome | | | | 25 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | IARS2 CL E G H | 55699 | 29685 | OMIM:616007 | Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia | | | | 25 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | IDS CL E G H | 3423 | 5389 | OMIM:309900 | Mucopolysaccharidosis, type II | | | | 86 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | IVNS1ABP CL E G H | 10625 | 16951 | OMIM:618969 | IMMUNODEFICIENCY 70; IMD70 | | | | | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | KCNN4 CL E G H | 3783 | 6293 | ORPHA:586 | Cystic fibrosis | | | | 3 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 196 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | LIG3 CL E G H | 3980 | 6600 | OMIM:619780 | MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE); MTDPS20 | | | | 1 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | LIG3 CL E G H | 3980 | 6600 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040281 - Very frequent | | | 1 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | LMOD1 CL E G H | 25802 | 6647 | ORPHA:2241 | Megacystis-microcolon-intestinal hypoperistalsis syndrome | | | | | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | MDM2 CL E G H | 4193 | 6973 | ORPHA:99971 | Well-differentiated liposarcoma | HP:0040283 - Occasional | | | 1 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | MEIS2 CL E G H | 4212 | 7001 | OMIM:600987 | Cleft palate, cardiac defects, and mental retardation | | | | 7 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | MIF CL E G H | 4282 | 7097 | ORPHA:586 | Cystic fibrosis | | | | 1 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | MTRFR CL E G H | 91574 | 26784 | ORPHA:254930 | Combined oxidative phosphorylation defect type 7 | | | | | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | MTRFR CL E G H | 91574 | 26784 | OMIM:613559 | Combined oxidative phosphorylation deficiency 7 | | | | | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | MYH11 CL E G H | 4629 | 7569 | ORPHA:2241 | Megacystis-microcolon-intestinal hypoperistalsis syndrome | | | | 418 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | MYH11 CL E G H | 4629 | 7569 | OMIM:619350 | VISCERAL MYOPATHY 2; VSCM2 | | | | 418 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | MYL9 CL E G H | 10398 | 15754 | OMIM:619365 | MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 4; MMIHS4 | | | | | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | MYLK CL E G H | 4638 | 7590 | ORPHA:2241 | Megacystis-microcolon-intestinal hypoperistalsis syndrome | | | | 326 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | MYO1H CL E G H | 283446 | 13879 | OMIM:619482 | CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2 | | | | | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | ND4 CL E G H | 4538 | 7459 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | ND5 CL E G H | 4540 | 7461 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | ND6 CL E G H | 4541 | 7462 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | NUTM2B-AS1 CL E G H | 101060691 | 51204 | OMIM:618637 | OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1; OPML1 | | | | | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | PALB2 CL E G H | 79728 | 26144 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 1349 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | PALLD CL E G H | 23022 | 17068 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 192 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | PHOX2B CL E G H | 8929 | 9143 | OMIM:209880 | Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease | | | | 86 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | POLG CL E G H | 5428 | 9179 | OMIM:603041 | Mitochondrial DNA depletion syndrome 1 (mngie type) | . | | | 464 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | POLG CL E G H | 5428 | 9179 | OMIM:613662 | Mitochondrial DNA depletion syndrome 4B (mngie type) | . | | | 464 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040281 - Very frequent | | | 464 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | POLG CL E G H | 5428 | 9179 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | | | | 464 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:70595 | Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome | | | | 464 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | PPOX CL E G H | 5498 | 9280 | ORPHA:79473 | Porphyria variegata | | | | 41 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | RABL3 CL E G H | 285282 | 18072 | ORPHA:1333 | Familial pancreatic carcinoma | | | | | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | RAD21 CL E G H | 5885 | 9811 | OMIM:611376 | Mungan syndrome | | | | 25 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | RRM2B CL E G H | 50484 | 17296 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040281 - Very frequent | | | 125 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | SAMD9 CL E G H | 54809 | 1348 | OMIM:617053 | Mirage syndrome | | | | 8 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | SERPINA1 CL E G H | 5265 | 8941 | ORPHA:586 | Cystic fibrosis | | | | 131 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | SLC11A1 CL E G H | 6556 | 10907 | ORPHA:586 | Cystic fibrosis | | | | 2 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | SLC1A3 CL E G H | 6507 | 10941 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040281 - Very frequent | | | 63 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | SLC26A9 CL E G H | 115019 | 14469 | ORPHA:586 | Cystic fibrosis | | | | 5 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | SLC6A14 CL E G H | 11254 | 11047 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | SLC6A8 CL E G H | 6535 | 11055 | OMIM:300352 | Creatine deficiency syndrome, X-linked | | | | 122 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | SLC6A8 CL E G H | 6535 | 11055 | ORPHA:52503 | X-linked creatine transporter deficiency | | | | 122 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | SLC9A3 CL E G H | 6550 | 11073 | ORPHA:586 | Cystic fibrosis | | | | 7 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 504 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | SMO CL E G H | 6608 | 11119 | OMIM:601707 | Curry-Jones syndrome | | | | 22 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | SON CL E G H | 6651 | 11183 | ORPHA:500150 | Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome | HP:0040283 - Occasional | | | 12 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | SOX10 CL E G H | 6663 | 11190 | OMIM:609136 | Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease | | | | 61 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | SOX10 CL E G H | 6663 | 11190 | ORPHA:163746 | Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease | | | | 61 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | STAT3 CL E G H | 6774 | 11364 | OMIM:615952 | AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1 | | | | 110 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | TANGO2 CL E G H | 128989 | 25439 | ORPHA:480864 | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome | HP:0040282 - Frequent | | | 12 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | TGFB1 CL E G H | 7040 | 11766 | OMIM:219700 | Cystic fibrosis | | | | 13 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | TGFB1 CL E G H | 7040 | 11766 | ORPHA:586 | Cystic fibrosis | | | | 13 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 911 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | TRAPPC11 CL E G H | 60684 | 25751 | OMIM:615356 | Muscular dystrophy, limb-girdle, autosomal recessive 18 | | | | 27 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | TRAPPC11 CL E G H | 60684 | 25751 | ORPHA:869 | Triple A syndrome | | | | 27 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | TRNF CL E G H | 4558 | 7481 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | TRNH CL E G H | 4564 | 7487 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | TRNQ CL E G H | 4572 | 7495 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | TRNS1 CL E G H | 4574 | 7497 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | TRNS2 CL E G H | 4575 | 7498 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | TRNW CL E G H | 4578 | 7501 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | TWNK CL E G H | 56652 | 1160 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | | | | 113 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | TWNK CL E G H | 56652 | 1160 | ORPHA:70595 | Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome | | | | 113 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | TXN2 CL E G H | 25828 | 17772 | ORPHA:478029 | Combined oxidative phosphorylation defect type 29 | HP:0040281 - Very frequent | | | 1 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | TYMP CL E G H | 1890 | 3148 | OMIM:603041 | Mitochondrial DNA depletion syndrome 1 (mngie type) | . | | | 138 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | TYMP CL E G H | 1890 | 3148 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040281 - Very frequent | | | 138 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | UBR7 CL E G H | 55148 | 20344 | OMIM:619189 | LI-CAMPEAU SYNDROME; LICAS | | | | 1 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | WFS1 CL E G H | 7466 | 12762 | ORPHA:411590 | Wolfram-like syndrome | HP:0040282 - Frequent | | | 389 | | |
HP:0002579 | HP:0002579 | Gastrointestinal dysmotility | 0 | WT1 CL E G H | 7490 | 12796 | ORPHA:83469 | Desmoplastic small round cell tumor | | | | 177 | | |
HP:0002579 | HP:0030914 | Abnormal peristalsis | 1 | AAAS CL E G H | 8086 | 13666 | OMIM:231550 | Achalasia-Addisonianism-Alacrima syndrome | | | | 57 | | |
HP:0002579 | HP:0030914 | Abnormal peristalsis | 1 | AAAS CL E G H | 8086 | 13666 | ORPHA:869 | Triple A syndrome | | | | 57 | | |
HP:0002579 | HP:0030914 | Abnormal peristalsis | 1 | ACTA2 CL E G H | 59 | 130 | OMIM:613834 | Multisystemic smooth muscle dysfunction syndrome | | | | 94 | | |
HP:0002579 | HP:0030914 | Abnormal peristalsis | 1 | ACTB CL E G H | 60 | 132 | ORPHA:79107 | Developmental malformations-deafness-dystonia syndrome | | | | 72 | | |
HP:0002579 | HP:0030914 | Abnormal peristalsis | 1 | ACTB CL E G H | 60 | 132 | OMIM:607371 | Dystonia, juvenile-onset | | | | 72 | | |
HP:0002579 | HP:0030914 | Abnormal peristalsis | 1 | ACTG2 CL E G H | 72 | 145 | ORPHA:2241 | Megacystis-microcolon-intestinal hypoperistalsis syndrome | | | | 23 | | |
HP:0002579 | HP:0004389 | Intestinal pseudo-obstruction | 1 | ACTG2 CL E G H | 72 | 145 | OMIM:155310 | Visceral myopathy 1 | . | | | 23 | | |
HP:0002579 | HP:0004389 | Intestinal pseudo-obstruction | 1 | BRCA1 CL E G H | 672 | 1100 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040282 - Frequent | | | 5769 | | |
HP:0002579 | HP:0004389 | Intestinal pseudo-obstruction | 1 | BRCA2 CL E G H | 675 | 1101 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040282 - Frequent | | | 7642 | | |
HP:0002579 | HP:0002595 | Ileus | 1 | CAVIN1 CL E G H | 284119 | 9688 | OMIM:613327 | Lipodystrophy, congenital generalized, type 4 | . | | | 48 | | |
HP:0002579 | HP:0004389 | Intestinal pseudo-obstruction | 1 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040282 - Frequent | | | 289 | | |
HP:0002579 | HP:0002595 | Ileus | 1 | CEACAM3 CL E G H | 1084 | 1815 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0002579 | HP:0002595 | Ileus | 1 | CEACAM6 CL E G H | 4680 | 1818 | ORPHA:586 | Cystic fibrosis | | | | 1 | | |
HP:0002579 | HP:0002595 | Ileus | 1 | CFTR CL E G H | 1080 | 1884 | ORPHA:586 | Cystic fibrosis | | | | 1371 | | |
HP:0002579 | HP:0002595 | Ileus | 1 | CFTR CL E G H | 1080 | 1884 | OMIM:219700 | Cystic fibrosis | | | | 1371 | | |
HP:0002579 | HP:0002595 | Ileus | 1 | CLCA4 CL E G H | 22802 | 2018 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0002579 | HP:0030914 | Abnormal peristalsis | 1 | CLMP CL E G H | 79827 | 24039 | OMIM:615237 | Congenital short bowel syndrome | . | | | 7 | | |
HP:0002579 | HP:0030914 | Abnormal peristalsis | 1 | COL4A5 CL E G H | 1287 | 2207 | ORPHA:1018 | X-linked Alport syndrome-diffuse leiomyomatosis | | | | 678 | | |
HP:0002579 | HP:0030914 | Abnormal peristalsis | 1 | COL4A6 CL E G H | 1288 | 2208 | ORPHA:1018 | X-linked Alport syndrome-diffuse leiomyomatosis | | | | 18 | | |
HP:0002579 | HP:0004389 | Intestinal pseudo-obstruction | 1 | COX1 CL E G H | 4512 | 7419 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0002579 | HP:0004389 | Intestinal pseudo-obstruction | 1 | COX2 CL E G H | 4513 | 7421 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0002579 | HP:0004389 | Intestinal pseudo-obstruction | 1 | COX3 CL E G H | 4514 | 7422 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0002579 | HP:0012850 | Small intestinal dysmotility | 1 | CPOX CL E G H | 1371 | 2321 | ORPHA:79273 | Hereditary coproporphyria | HP:0040283 - Occasional | | | 72 | | |
HP:0002579 | HP:0002595 | Ileus | 1 | DCTN4 CL E G H | 51164 | 15518 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0002579 | HP:0002595 | Ileus | 1 | EDNRA CL E G H | 1909 | 3179 | ORPHA:586 | Cystic fibrosis | | | | 3 | | |
HP:0002579 | HP:0004389 | Intestinal pseudo-obstruction | 1 | ERBB3 CL E G H | 2065 | 3431 | OMIM:243180 | Visceral neuropathy, familial, autosomal recessive | | | | 12 | | |
HP:0002579 | HP:0002595 | Ileus | 1 | EWSR1 CL E G H | 2130 | 3508 | ORPHA:83469 | Desmoplastic small round cell tumor | HP:0040282 - Frequent | | | | | |
HP:0002579 | HP:0002595 | Ileus | 1 | FAH CL E G H | 2184 | 3579 | OMIM:276700 | Tyrosinemia, type I | | | | 107 | | |
HP:0002579 | HP:0002595 | Ileus | 1 | FCGR2A CL E G H | 2212 | 3616 | OMIM:219700 | Cystic fibrosis | | | | 6 | | |
HP:0002579 | HP:0004389 | Intestinal pseudo-obstruction | 1 | FLNA CL E G H | 2316 | 3754 | OMIM:300048 | Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked | . | | | 493 | | |
HP:0002579 | HP:0030914 | Abnormal peristalsis | 1 | FLVCR1 CL E G H | 28982 | 24682 | OMIM:609033 | Ataxia, posterior column, with retinitis pigmentosa | | | | 111 | | |
HP:0002579 | HP:0002595 | Ileus | 1 | FOXP3 CL E G H | 50943 | 6106 | ORPHA:37042 | Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome | HP:0040284 - Very rare | | | 32 | | |
HP:0002579 | HP:0002595 | Ileus | 1 | FOXP3 CL E G H | 50943 | 6106 | OMIM:304790 | Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked | . | | | 32 | | |
HP:0002579 | HP:0002595 | Ileus | 1 | GCLC CL E G H | 2729 | 4311 | ORPHA:586 | Cystic fibrosis | | | | 2 | | |
HP:0002579 | HP:0030914 | Abnormal peristalsis | 1 | GLA CL E G H | 2717 | 4296 | ORPHA:324 | Fabry disease | | | | 291 | | |
HP:0002579 | HP:0030914 | Abnormal peristalsis | 1 | GMPPA CL E G H | 29926 | 22923 | OMIM:615510 | Alacrima, achalasia, and mental retardation syndrome | | | | 24 | | |
HP:0002579 | HP:0030914 | Abnormal peristalsis | 1 | GMPPA CL E G H | 29926 | 22923 | ORPHA:869 | Triple A syndrome | | | | 24 | | |
HP:0002579 | HP:0002595 | Ileus | 1 | GSTM3 CL E G H | 2947 | 4635 | ORPHA:586 | Cystic fibrosis | | | | 1 | | |
HP:0002579 | HP:0030914 | Abnormal peristalsis | 1 | GUCY1A1 CL E G H | 2982 | 4685 | OMIM:615750 | Moyamoya disease 6 with achalasia | | | | | | |
HP:0002579 | HP:0002595 | Ileus | 1 | GUCY2C CL E G H | 2984 | 4688 | OMIM:614665 | Meconium ileus | | | | 12 | | |
HP:0002579 | HP:0002595 | Ileus | 1 | HFE CL E G H | 3077 | 4886 | ORPHA:586 | Cystic fibrosis | | | | 38 | | |
HP:0002579 | HP:0002595 | Ileus | 1 | HMBS CL E G H | 3145 | 4982 | ORPHA:79276 | Acute intermittent porphyria | HP:0040283 - Occasional | | | 81 | | |
HP:0002579 | HP:0002595 | Ileus | 1 | HMBS CL E G H | 3145 | 4982 | OMIM:176000 | Porphyria, acute intermittent | | | | 81 | | |
HP:0002579 | HP:0002595 | Ileus | 1 | HMOX1 CL E G H | 3162 | 5013 | ORPHA:586 | Cystic fibrosis | | | | 3 | | |
HP:0002579 | HP:0004389 | Intestinal pseudo-obstruction | 1 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:352665 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion | HP:0040283 - Occasional | | | 8 | | |
HP:0002579 | HP:0004389 | Intestinal pseudo-obstruction | 1 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:453504 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation | HP:0040283 - Occasional | | | 8 | | |
HP:0002579 | HP:0030914 | Abnormal peristalsis | 1 | IARS2 CL E G H | 55699 | 29685 | ORPHA:436174 | Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome | | | | 25 | | |
HP:0002579 | HP:0030914 | Abnormal peristalsis | 1 | IARS2 CL E G H | 55699 | 29685 | OMIM:616007 | Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia | | | | 25 | | |
HP:0002579 | HP:0004389 | Intestinal pseudo-obstruction | 1 | IDS CL E G H | 3423 | 5389 | OMIM:309900 | Mucopolysaccharidosis, type II | . | | | 86 | | |
HP:0002579 | HP:0030914 | Abnormal peristalsis | 1 | IVNS1ABP CL E G H | 10625 | 16951 | OMIM:618969 | IMMUNODEFICIENCY 70; IMD70 | | | | | | |
HP:0002579 | HP:0002595 | Ileus | 1 | KCNN4 CL E G H | 3783 | 6293 | ORPHA:586 | Cystic fibrosis | | | | 3 | | |
HP:0002579 | HP:0004389 | Intestinal pseudo-obstruction | 1 | KRAS CL E G H | 3845 | 6407 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040282 - Frequent | | | 196 | | |
HP:0002579 | HP:0004389 | Intestinal pseudo-obstruction | 1 | LIG3 CL E G H | 3980 | 6600 | OMIM:619780 | MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE); MTDPS20 | | | | 1 | | |
HP:0002579 | HP:0012850 | Small intestinal dysmotility | 1 | LIG3 CL E G H | 3980 | 6600 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040281 - Very frequent | | | 1 | | |
HP:0002579 | HP:0030914 | Abnormal peristalsis | 1 | LMOD1 CL E G H | 25802 | 6647 | ORPHA:2241 | Megacystis-microcolon-intestinal hypoperistalsis syndrome | | | | | | |
HP:0002579 | HP:0030914 | Abnormal peristalsis | 1 | MEIS2 CL E G H | 4212 | 7001 | OMIM:600987 | Cleft palate, cardiac defects, and mental retardation | | | | 7 | | |
HP:0002579 | HP:0002595 | Ileus | 1 | MIF CL E G H | 4282 | 7097 | ORPHA:586 | Cystic fibrosis | | | | 1 | | |
HP:0002579 | HP:0002595 | Ileus | 1 | MTRFR CL E G H | 91574 | 26784 | ORPHA:254930 | Combined oxidative phosphorylation defect type 7 | | | | | | |
HP:0002579 | HP:0002595 | Ileus | 1 | MTRFR CL E G H | 91574 | 26784 | OMIM:613559 | Combined oxidative phosphorylation deficiency 7 | | | | | | |
HP:0002579 | HP:0030914 | Abnormal peristalsis | 1 | MYH11 CL E G H | 4629 | 7569 | ORPHA:2241 | Megacystis-microcolon-intestinal hypoperistalsis syndrome | | | | 418 | | |
HP:0002579 | HP:0030914 | Abnormal peristalsis | 1 | MYH11 CL E G H | 4629 | 7569 | OMIM:619350 | VISCERAL MYOPATHY 2; VSCM2 | | | | 418 | | |
HP:0002579 | HP:0004389 | Intestinal pseudo-obstruction | 1 | MYH11 CL E G H | 4629 | 7569 | OMIM:619350 | VISCERAL MYOPATHY 2; VSCM2 | | | | 418 | | |
HP:0002579 | HP:0030914 | Abnormal peristalsis | 1 | MYL9 CL E G H | 10398 | 15754 | OMIM:619365 | MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 4; MMIHS4 | | | | | | |
HP:0002579 | HP:0030914 | Abnormal peristalsis | 1 | MYLK CL E G H | 4638 | 7590 | ORPHA:2241 | Megacystis-microcolon-intestinal hypoperistalsis syndrome | | | | 326 | | |
HP:0002579 | HP:0030914 | Abnormal peristalsis | 1 | MYO1H CL E G H | 283446 | 13879 | OMIM:619482 | CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2 | | | | | | |
HP:0002579 | HP:0012850 | Small intestinal dysmotility | 1 | MYO1H CL E G H | 283446 | 13879 | OMIM:619482 | CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2 | | | | | | |
HP:0002579 | HP:0004389 | Intestinal pseudo-obstruction | 1 | ND1 CL E G H | 4535 | 7455 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0002579 | HP:0004389 | Intestinal pseudo-obstruction | 1 | ND4 CL E G H | 4538 | 7459 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0002579 | HP:0004389 | Intestinal pseudo-obstruction | 1 | ND5 CL E G H | 4540 | 7461 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0002579 | HP:0004389 | Intestinal pseudo-obstruction | 1 | ND6 CL E G H | 4541 | 7462 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0002579 | HP:0004389 | Intestinal pseudo-obstruction | 1 | PALB2 CL E G H | 79728 | 26144 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040282 - Frequent | | | 1349 | | |
HP:0002579 | HP:0004389 | Intestinal pseudo-obstruction | 1 | PALLD CL E G H | 23022 | 17068 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040282 - Frequent | | | 192 | | |
HP:0002579 | HP:0030914 | Abnormal peristalsis | 1 | PHOX2B CL E G H | 8929 | 9143 | OMIM:209880 | Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease | | | | 86 | | |
HP:0002579 | HP:0004389 | Intestinal pseudo-obstruction | 1 | POLG CL E G H | 5428 | 9179 | OMIM:603041 | Mitochondrial DNA depletion syndrome 1 (mngie type) | | | | 464 | | |
HP:0002579 | HP:0004389 | Intestinal pseudo-obstruction | 1 | POLG CL E G H | 5428 | 9179 | OMIM:613662 | Mitochondrial DNA depletion syndrome 4B (mngie type) | | | | 464 | | |
HP:0002579 | HP:0012850 | Small intestinal dysmotility | 1 | POLG CL E G H | 5428 | 9179 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040281 - Very frequent | | | 464 | | |
HP:0002579 | HP:0004389 | Intestinal pseudo-obstruction | 1 | POLG CL E G H | 5428 | 9179 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | . | | | 464 | | |
HP:0002579 | HP:0004389 | Intestinal pseudo-obstruction | 1 | POLG CL E G H | 5428 | 9179 | ORPHA:70595 | Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome | HP:0040283 - Occasional | | | 464 | | |
HP:0002579 | HP:0002595 | Ileus | 1 | PPOX CL E G H | 5498 | 9280 | ORPHA:79473 | Porphyria variegata | HP:0040283 - Occasional | | | 41 | | |
HP:0002579 | HP:0004389 | Intestinal pseudo-obstruction | 1 | RABL3 CL E G H | 285282 | 18072 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040282 - Frequent | | | | | |
HP:0002579 | HP:0004389 | Intestinal pseudo-obstruction | 1 | RAD21 CL E G H | 5885 | 9811 | OMIM:611376 | Mungan syndrome | . | | | 25 | | |
HP:0002579 | HP:0030914 | Abnormal peristalsis | 1 | RAD21 CL E G H | 5885 | 9811 | OMIM:611376 | Mungan syndrome | | | | 25 | | |
HP:0002579 | HP:0012850 | Small intestinal dysmotility | 1 | RRM2B CL E G H | 50484 | 17296 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040281 - Very frequent | | | 125 | | |
HP:0002579 | HP:0030914 | Abnormal peristalsis | 1 | SAMD9 CL E G H | 54809 | 1348 | OMIM:617053 | Mirage syndrome | | | | 8 | | |
HP:0002579 | HP:0002595 | Ileus | 1 | SERPINA1 CL E G H | 5265 | 8941 | ORPHA:586 | Cystic fibrosis | | | | 131 | | |
HP:0002579 | HP:0002595 | Ileus | 1 | SLC11A1 CL E G H | 6556 | 10907 | ORPHA:586 | Cystic fibrosis | | | | 2 | | |
HP:0002579 | HP:0002595 | Ileus | 1 | SLC26A9 CL E G H | 115019 | 14469 | ORPHA:586 | Cystic fibrosis | | | | 5 | | |
HP:0002579 | HP:0002595 | Ileus | 1 | SLC6A14 CL E G H | 11254 | 11047 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0002579 | HP:0002595 | Ileus | 1 | SLC6A8 CL E G H | 6535 | 11055 | OMIM:300352 | Creatine deficiency syndrome, X-linked | . | | | 122 | | |
HP:0002579 | HP:0002595 | Ileus | 1 | SLC6A8 CL E G H | 6535 | 11055 | ORPHA:52503 | X-linked creatine transporter deficiency | HP:0040282 - Frequent | | | 122 | | |
HP:0002579 | HP:0002595 | Ileus | 1 | SLC9A3 CL E G H | 6550 | 11073 | ORPHA:586 | Cystic fibrosis | | | | 7 | | |
HP:0002579 | HP:0004389 | Intestinal pseudo-obstruction | 1 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040282 - Frequent | | | 504 | | |
HP:0002579 | HP:0004389 | Intestinal pseudo-obstruction | 1 | SMO CL E G H | 6608 | 11119 | OMIM:601707 | Curry-Jones syndrome | | | | 22 | | |
HP:0002579 | HP:0002595 | Ileus | 1 | SOX10 CL E G H | 6663 | 11190 | OMIM:609136 | Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease | | | | 61 | | |
HP:0002579 | HP:0002595 | Ileus | 1 | SOX10 CL E G H | 6663 | 11190 | ORPHA:163746 | Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease | HP:0040281 - Very frequent | | | 61 | | |
HP:0002579 | HP:0030914 | Abnormal peristalsis | 1 | STAT3 CL E G H | 6774 | 11364 | OMIM:615952 | AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1 | | | | 110 | | |
HP:0002579 | HP:0002595 | Ileus | 1 | STX1A CL E G H | 6804 | 11433 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0002579 | HP:0002595 | Ileus | 1 | TGFB1 CL E G H | 7040 | 11766 | ORPHA:586 | Cystic fibrosis | | | | 13 | | |
HP:0002579 | HP:0002595 | Ileus | 1 | TGFB1 CL E G H | 7040 | 11766 | OMIM:219700 | Cystic fibrosis | | | | 13 | | |
HP:0002579 | HP:0004389 | Intestinal pseudo-obstruction | 1 | TP53 CL E G H | 7157 | 11998 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040282 - Frequent | | | 911 | | |
HP:0002579 | HP:0030914 | Abnormal peristalsis | 1 | TRAPPC11 CL E G H | 60684 | 25751 | OMIM:615356 | Muscular dystrophy, limb-girdle, autosomal recessive 18 | | | | 27 | | |
HP:0002579 | HP:0030914 | Abnormal peristalsis | 1 | TRAPPC11 CL E G H | 60684 | 25751 | ORPHA:869 | Triple A syndrome | | | | 27 | | |
HP:0002579 | HP:0004389 | Intestinal pseudo-obstruction | 1 | TRNF CL E G H | 4558 | 7481 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0002579 | HP:0004389 | Intestinal pseudo-obstruction | 1 | TRNH CL E G H | 4564 | 7487 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0002579 | HP:0004389 | Intestinal pseudo-obstruction | 1 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0002579 | HP:0004389 | Intestinal pseudo-obstruction | 1 | TRNQ CL E G H | 4572 | 7495 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0002579 | HP:0004389 | Intestinal pseudo-obstruction | 1 | TRNS1 CL E G H | 4574 | 7497 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0002579 | HP:0004389 | Intestinal pseudo-obstruction | 1 | TRNS2 CL E G H | 4575 | 7498 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0002579 | HP:0004389 | Intestinal pseudo-obstruction | 1 | TRNW CL E G H | 4578 | 7501 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0002579 | HP:0004389 | Intestinal pseudo-obstruction | 1 | TWNK CL E G H | 56652 | 1160 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | . | | | 113 | | |
HP:0002579 | HP:0004389 | Intestinal pseudo-obstruction | 1 | TWNK CL E G H | 56652 | 1160 | ORPHA:70595 | Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome | HP:0040283 - Occasional | | | 113 | | |
HP:0002579 | HP:0004389 | Intestinal pseudo-obstruction | 1 | TYMP CL E G H | 1890 | 3148 | OMIM:603041 | Mitochondrial DNA depletion syndrome 1 (mngie type) | | | | 138 | | |
HP:0002579 | HP:0012850 | Small intestinal dysmotility | 1 | TYMP CL E G H | 1890 | 3148 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040281 - Very frequent | | | 138 | | |
HP:0002579 | HP:0002595 | Ileus | 1 | WT1 CL E G H | 7490 | 12796 | ORPHA:83469 | Desmoplastic small round cell tumor | HP:0040282 - Frequent | | | 177 | | |
HP:0002579 | HP:0100770 | Hyperperistalsis | 2 | CL E G H | | | | | | | | | | |
HP:0002579 | HP:0100771 | Hypoperistalsis | 2 | AAAS CL E G H | 8086 | 13666 | OMIM:231550 | Achalasia-Addisonianism-Alacrima syndrome | | | | 57 | | |
HP:0002579 | HP:0100771 | Hypoperistalsis | 2 | AAAS CL E G H | 8086 | 13666 | ORPHA:869 | Triple A syndrome | | | | 57 | | |
HP:0002579 | HP:0100771 | Hypoperistalsis | 2 | ACTA2 CL E G H | 59 | 130 | OMIM:613834 | Multisystemic smooth muscle dysfunction syndrome | | | | 94 | | |
HP:0002579 | HP:0100771 | Hypoperistalsis | 2 | ACTB CL E G H | 60 | 132 | ORPHA:79107 | Developmental malformations-deafness-dystonia syndrome | | | | 72 | | |
HP:0002579 | HP:0100771 | Hypoperistalsis | 2 | ACTB CL E G H | 60 | 132 | OMIM:607371 | Dystonia, juvenile-onset | | | | 72 | | |
HP:0002579 | HP:0100771 | Hypoperistalsis | 2 | ACTG2 CL E G H | 72 | 145 | ORPHA:2241 | Megacystis-microcolon-intestinal hypoperistalsis syndrome | HP:0040281 - Very frequent | | | 23 | | |
HP:0002579 | HP:0010676 | Mechanical ileus | 2 | CEACAM3 CL E G H | 1084 | 1815 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0002579 | HP:0010676 | Mechanical ileus | 2 | CEACAM6 CL E G H | 4680 | 1818 | ORPHA:586 | Cystic fibrosis | | | | 1 | | |
HP:0002579 | HP:0010676 | Mechanical ileus | 2 | CFTR CL E G H | 1080 | 1884 | ORPHA:586 | Cystic fibrosis | | | | 1371 | | |
HP:0002579 | HP:0010676 | Mechanical ileus | 2 | CFTR CL E G H | 1080 | 1884 | OMIM:219700 | Cystic fibrosis | | | | 1371 | | |
HP:0002579 | HP:0010676 | Mechanical ileus | 2 | CLCA4 CL E G H | 22802 | 2018 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0002579 | HP:0100771 | Hypoperistalsis | 2 | COL4A5 CL E G H | 1287 | 2207 | ORPHA:1018 | X-linked Alport syndrome-diffuse leiomyomatosis | HP:0040282 - Frequent | | | 678 | | |
HP:0002579 | HP:0100771 | Hypoperistalsis | 2 | COL4A6 CL E G H | 1288 | 2208 | ORPHA:1018 | X-linked Alport syndrome-diffuse leiomyomatosis | HP:0040282 - Frequent | | | 18 | | |
HP:0002579 | HP:0010676 | Mechanical ileus | 2 | DCTN4 CL E G H | 51164 | 15518 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0002579 | HP:0010676 | Mechanical ileus | 2 | EDNRA CL E G H | 1909 | 3179 | ORPHA:586 | Cystic fibrosis | | | | 3 | | |
HP:0002579 | HP:0002590 | Paralytic ileus | 2 | FAH CL E G H | 2184 | 3579 | OMIM:276700 | Tyrosinemia, type I | . | | | 107 | | |
HP:0002579 | HP:0010676 | Mechanical ileus | 2 | FCGR2A CL E G H | 2212 | 3616 | OMIM:219700 | Cystic fibrosis | | | | 6 | | |
HP:0002579 | HP:0100771 | Hypoperistalsis | 2 | FLVCR1 CL E G H | 28982 | 24682 | OMIM:609033 | Ataxia, posterior column, with retinitis pigmentosa | | | | 111 | | |
HP:0002579 | HP:0010676 | Mechanical ileus | 2 | GCLC CL E G H | 2729 | 4311 | ORPHA:586 | Cystic fibrosis | | | | 2 | | |
HP:0002579 | HP:0100771 | Hypoperistalsis | 2 | GLA CL E G H | 2717 | 4296 | ORPHA:324 | Fabry disease | | | | 291 | | |
HP:0002579 | HP:0100771 | Hypoperistalsis | 2 | GMPPA CL E G H | 29926 | 22923 | OMIM:615510 | Alacrima, achalasia, and mental retardation syndrome | | | | 24 | | |
HP:0002579 | HP:0100771 | Hypoperistalsis | 2 | GMPPA CL E G H | 29926 | 22923 | ORPHA:869 | Triple A syndrome | | | | 24 | | |
HP:0002579 | HP:0010676 | Mechanical ileus | 2 | GSTM3 CL E G H | 2947 | 4635 | ORPHA:586 | Cystic fibrosis | | | | 1 | | |
HP:0002579 | HP:0100771 | Hypoperistalsis | 2 | GUCY1A1 CL E G H | 2982 | 4685 | OMIM:615750 | Moyamoya disease 6 with achalasia | | | | | | |
HP:0002579 | HP:0010676 | Mechanical ileus | 2 | GUCY2C CL E G H | 2984 | 4688 | OMIM:614665 | Meconium ileus | | | | 12 | | |
HP:0002579 | HP:0010676 | Mechanical ileus | 2 | HFE CL E G H | 3077 | 4886 | ORPHA:586 | Cystic fibrosis | | | | 38 | | |
HP:0002579 | HP:0002590 | Paralytic ileus | 2 | HMBS CL E G H | 3145 | 4982 | OMIM:176000 | Porphyria, acute intermittent | . | | | 81 | | |
HP:0002579 | HP:0010676 | Mechanical ileus | 2 | HMOX1 CL E G H | 3162 | 5013 | ORPHA:586 | Cystic fibrosis | | | | 3 | | |
HP:0002579 | HP:0100771 | Hypoperistalsis | 2 | IARS2 CL E G H | 55699 | 29685 | ORPHA:436174 | Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome | | | | 25 | | |
HP:0002579 | HP:0100771 | Hypoperistalsis | 2 | IARS2 CL E G H | 55699 | 29685 | OMIM:616007 | Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia | | | | 25 | | |
HP:0002579 | HP:0100771 | Hypoperistalsis | 2 | IVNS1ABP CL E G H | 10625 | 16951 | OMIM:618969 | IMMUNODEFICIENCY 70; IMD70 | | | | | | |
HP:0002579 | HP:0010676 | Mechanical ileus | 2 | KCNN4 CL E G H | 3783 | 6293 | ORPHA:586 | Cystic fibrosis | | | | 3 | | |
HP:0002579 | HP:0100771 | Hypoperistalsis | 2 | LMOD1 CL E G H | 25802 | 6647 | ORPHA:2241 | Megacystis-microcolon-intestinal hypoperistalsis syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002579 | HP:0100771 | Hypoperistalsis | 2 | MEIS2 CL E G H | 4212 | 7001 | OMIM:600987 | Cleft palate, cardiac defects, and mental retardation | | | | 7 | | |
HP:0002579 | HP:0010676 | Mechanical ileus | 2 | MIF CL E G H | 4282 | 7097 | ORPHA:586 | Cystic fibrosis | | | | 1 | | |
HP:0002579 | HP:0002590 | Paralytic ileus | 2 | MTRFR CL E G H | 91574 | 26784 | ORPHA:254930 | Combined oxidative phosphorylation defect type 7 | HP:0040283 - Occasional | | | | | |
HP:0002579 | HP:0002590 | Paralytic ileus | 2 | MTRFR CL E G H | 91574 | 26784 | OMIM:613559 | Combined oxidative phosphorylation deficiency 7 | . | | | | | |
HP:0002579 | HP:0100771 | Hypoperistalsis | 2 | MYH11 CL E G H | 4629 | 7569 | ORPHA:2241 | Megacystis-microcolon-intestinal hypoperistalsis syndrome | HP:0040281 - Very frequent | | | 418 | | |
HP:0002579 | HP:0100771 | Hypoperistalsis | 2 | MYH11 CL E G H | 4629 | 7569 | OMIM:619350 | VISCERAL MYOPATHY 2; VSCM2 | | | | 418 | | |
HP:0002579 | HP:0100771 | Hypoperistalsis | 2 | MYL9 CL E G H | 10398 | 15754 | OMIM:619365 | MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 4; MMIHS4 | | | | | | |
HP:0002579 | HP:0100771 | Hypoperistalsis | 2 | MYLK CL E G H | 4638 | 7590 | ORPHA:2241 | Megacystis-microcolon-intestinal hypoperistalsis syndrome | HP:0040281 - Very frequent | | | 326 | | |
HP:0002579 | HP:0100771 | Hypoperistalsis | 2 | MYO1H CL E G H | 283446 | 13879 | OMIM:619482 | CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2 | | | | | | |
HP:0002579 | HP:0100771 | Hypoperistalsis | 2 | PHOX2B CL E G H | 8929 | 9143 | OMIM:209880 | Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease | | | | 86 | | |
HP:0002579 | HP:0100771 | Hypoperistalsis | 2 | RAD21 CL E G H | 5885 | 9811 | OMIM:611376 | Mungan syndrome | . | | | 25 | | |
HP:0002579 | HP:0100771 | Hypoperistalsis | 2 | SAMD9 CL E G H | 54809 | 1348 | OMIM:617053 | Mirage syndrome | | | | 8 | | |
HP:0002579 | HP:0010676 | Mechanical ileus | 2 | SERPINA1 CL E G H | 5265 | 8941 | ORPHA:586 | Cystic fibrosis | | | | 131 | | |
HP:0002579 | HP:0010676 | Mechanical ileus | 2 | SLC11A1 CL E G H | 6556 | 10907 | ORPHA:586 | Cystic fibrosis | | | | 2 | | |
HP:0002579 | HP:0010676 | Mechanical ileus | 2 | SLC26A9 CL E G H | 115019 | 14469 | ORPHA:586 | Cystic fibrosis | | | | 5 | | |
HP:0002579 | HP:0010676 | Mechanical ileus | 2 | SLC6A14 CL E G H | 11254 | 11047 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0002579 | HP:0010676 | Mechanical ileus | 2 | SLC9A3 CL E G H | 6550 | 11073 | ORPHA:586 | Cystic fibrosis | | | | 7 | | |
HP:0002579 | HP:0100771 | Hypoperistalsis | 2 | STAT3 CL E G H | 6774 | 11364 | OMIM:615952 | AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1 | | | | 110 | | |
HP:0002579 | HP:0010676 | Mechanical ileus | 2 | STX1A CL E G H | 6804 | 11433 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0002579 | HP:0010676 | Mechanical ileus | 2 | TGFB1 CL E G H | 7040 | 11766 | ORPHA:586 | Cystic fibrosis | | | | 13 | | |
HP:0002579 | HP:0010676 | Mechanical ileus | 2 | TGFB1 CL E G H | 7040 | 11766 | OMIM:219700 | Cystic fibrosis | | | | 13 | | |
HP:0002579 | HP:0100771 | Hypoperistalsis | 2 | TRAPPC11 CL E G H | 60684 | 25751 | OMIM:615356 | Muscular dystrophy, limb-girdle, autosomal recessive 18 | | | | 27 | | |
HP:0002579 | HP:0100771 | Hypoperistalsis | 2 | TRAPPC11 CL E G H | 60684 | 25751 | ORPHA:869 | Triple A syndrome | | | | 27 | | |
HP:0002579 | HP:0031857 | Ineffective esophageal peristalsis | 3 | AAAS CL E G H | 8086 | 13666 | OMIM:231550 | Achalasia-Addisonianism-Alacrima syndrome | | | | 57 | | |
HP:0002579 | HP:0031857 | Ineffective esophageal peristalsis | 3 | AAAS CL E G H | 8086 | 13666 | ORPHA:869 | Triple A syndrome | | | | 57 | | |
HP:0002579 | HP:0031857 | Ineffective esophageal peristalsis | 3 | ACTB CL E G H | 60 | 132 | ORPHA:79107 | Developmental malformations-deafness-dystonia syndrome | | | | 72 | | |
HP:0002579 | HP:0031857 | Ineffective esophageal peristalsis | 3 | ACTB CL E G H | 60 | 132 | OMIM:607371 | Dystonia, juvenile-onset | | | | 72 | | |
HP:0002579 | HP:0004401 | Meconium ileus | 3 | CEACAM3 CL E G H | 1084 | 1815 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0002579 | HP:0004401 | Meconium ileus | 3 | CEACAM6 CL E G H | 4680 | 1818 | ORPHA:586 | Cystic fibrosis | | | | 1 | | |
HP:0002579 | HP:0004401 | Meconium ileus | 3 | CFTR CL E G H | 1080 | 1884 | ORPHA:586 | Cystic fibrosis | | | | 1371 | | |
HP:0002579 | HP:0004401 | Meconium ileus | 3 | CFTR CL E G H | 1080 | 1884 | OMIM:219700 | Cystic fibrosis | . | | | 1371 | | |
HP:0002579 | HP:0004401 | Meconium ileus | 3 | CLCA4 CL E G H | 22802 | 2018 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0002579 | HP:0031857 | Ineffective esophageal peristalsis | 3 | COL4A5 CL E G H | 1287 | 2207 | ORPHA:1018 | X-linked Alport syndrome-diffuse leiomyomatosis | | | | 678 | | |
HP:0002579 | HP:0031857 | Ineffective esophageal peristalsis | 3 | COL4A6 CL E G H | 1288 | 2208 | ORPHA:1018 | X-linked Alport syndrome-diffuse leiomyomatosis | | | | 18 | | |
HP:0002579 | HP:0004401 | Meconium ileus | 3 | DCTN4 CL E G H | 51164 | 15518 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0002579 | HP:0004401 | Meconium ileus | 3 | EDNRA CL E G H | 1909 | 3179 | ORPHA:586 | Cystic fibrosis | | | | 3 | | |
HP:0002579 | HP:0004401 | Meconium ileus | 3 | FCGR2A CL E G H | 2212 | 3616 | OMIM:219700 | Cystic fibrosis | . | | | 6 | | |
HP:0002579 | HP:0031857 | Ineffective esophageal peristalsis | 3 | FLVCR1 CL E G H | 28982 | 24682 | OMIM:609033 | Ataxia, posterior column, with retinitis pigmentosa | | | | 111 | | |
HP:0002579 | HP:0004401 | Meconium ileus | 3 | GCLC CL E G H | 2729 | 4311 | ORPHA:586 | Cystic fibrosis | | | | 2 | | |
HP:0002579 | HP:0031857 | Ineffective esophageal peristalsis | 3 | GLA CL E G H | 2717 | 4296 | ORPHA:324 | Fabry disease | | | | 291 | | |
HP:0002579 | HP:0031857 | Ineffective esophageal peristalsis | 3 | GMPPA CL E G H | 29926 | 22923 | OMIM:615510 | Alacrima, achalasia, and mental retardation syndrome | | | | 24 | | |
HP:0002579 | HP:0031857 | Ineffective esophageal peristalsis | 3 | GMPPA CL E G H | 29926 | 22923 | ORPHA:869 | Triple A syndrome | | | | 24 | | |
HP:0002579 | HP:0004401 | Meconium ileus | 3 | GSTM3 CL E G H | 2947 | 4635 | ORPHA:586 | Cystic fibrosis | | | | 1 | | |
HP:0002579 | HP:0031857 | Ineffective esophageal peristalsis | 3 | GUCY1A1 CL E G H | 2982 | 4685 | OMIM:615750 | Moyamoya disease 6 with achalasia | | | | | | |
HP:0002579 | HP:0004401 | Meconium ileus | 3 | GUCY2C CL E G H | 2984 | 4688 | OMIM:614665 | Meconium ileus | . | | | 12 | | |
HP:0002579 | HP:0004401 | Meconium ileus | 3 | HFE CL E G H | 3077 | 4886 | ORPHA:586 | Cystic fibrosis | | | | 38 | | |
HP:0002579 | HP:0004401 | Meconium ileus | 3 | HMOX1 CL E G H | 3162 | 5013 | ORPHA:586 | Cystic fibrosis | | | | 3 | | |
HP:0002579 | HP:0031857 | Ineffective esophageal peristalsis | 3 | IARS2 CL E G H | 55699 | 29685 | ORPHA:436174 | Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome | | | | 25 | | |
HP:0002579 | HP:0031857 | Ineffective esophageal peristalsis | 3 | IARS2 CL E G H | 55699 | 29685 | OMIM:616007 | Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia | | | | 25 | | |
HP:0002579 | HP:0031857 | Ineffective esophageal peristalsis | 3 | IVNS1ABP CL E G H | 10625 | 16951 | OMIM:618969 | IMMUNODEFICIENCY 70; IMD70 | | | | | | |
HP:0002579 | HP:0004401 | Meconium ileus | 3 | KCNN4 CL E G H | 3783 | 6293 | ORPHA:586 | Cystic fibrosis | | | | 3 | | |
HP:0002579 | HP:0031857 | Ineffective esophageal peristalsis | 3 | MEIS2 CL E G H | 4212 | 7001 | OMIM:600987 | Cleft palate, cardiac defects, and mental retardation | | | | 7 | | |
HP:0002579 | HP:0004401 | Meconium ileus | 3 | MIF CL E G H | 4282 | 7097 | ORPHA:586 | Cystic fibrosis | | | | 1 | | |
HP:0002579 | HP:0031857 | Ineffective esophageal peristalsis | 3 | MYH11 CL E G H | 4629 | 7569 | OMIM:619350 | VISCERAL MYOPATHY 2; VSCM2 | | | | 418 | | |
HP:0002579 | HP:0031857 | Ineffective esophageal peristalsis | 3 | MYO1H CL E G H | 283446 | 13879 | OMIM:619482 | CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2 | | | | | | |
HP:0002579 | HP:0031857 | Ineffective esophageal peristalsis | 3 | PHOX2B CL E G H | 8929 | 9143 | OMIM:209880 | Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease | | | | 86 | | |
HP:0002579 | HP:0031857 | Ineffective esophageal peristalsis | 3 | SAMD9 CL E G H | 54809 | 1348 | OMIM:617053 | Mirage syndrome | | | | 8 | | |
HP:0002579 | HP:0004401 | Meconium ileus | 3 | SERPINA1 CL E G H | 5265 | 8941 | ORPHA:586 | Cystic fibrosis | | | | 131 | | |
HP:0002579 | HP:0004401 | Meconium ileus | 3 | SLC11A1 CL E G H | 6556 | 10907 | ORPHA:586 | Cystic fibrosis | | | | 2 | | |
HP:0002579 | HP:0004401 | Meconium ileus | 3 | SLC26A9 CL E G H | 115019 | 14469 | ORPHA:586 | Cystic fibrosis | | | | 5 | | |
HP:0002579 | HP:0004401 | Meconium ileus | 3 | SLC6A14 CL E G H | 11254 | 11047 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0002579 | HP:0004401 | Meconium ileus | 3 | SLC9A3 CL E G H | 6550 | 11073 | ORPHA:586 | Cystic fibrosis | | | | 7 | | |
HP:0002579 | HP:0031857 | Ineffective esophageal peristalsis | 3 | STAT3 CL E G H | 6774 | 11364 | OMIM:615952 | AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1 | | | | 110 | | |
HP:0002579 | HP:0004401 | Meconium ileus | 3 | STX1A CL E G H | 6804 | 11433 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0002579 | HP:0004401 | Meconium ileus | 3 | TGFB1 CL E G H | 7040 | 11766 | OMIM:219700 | Cystic fibrosis | . | | | 13 | | |
HP:0002579 | HP:0004401 | Meconium ileus | 3 | TGFB1 CL E G H | 7040 | 11766 | ORPHA:586 | Cystic fibrosis | | | | 13 | | |
HP:0002579 | HP:0031857 | Ineffective esophageal peristalsis | 3 | TRAPPC11 CL E G H | 60684 | 25751 | OMIM:615356 | Muscular dystrophy, limb-girdle, autosomal recessive 18 | | | | 27 | | |
HP:0002579 | HP:0031857 | Ineffective esophageal peristalsis | 3 | TRAPPC11 CL E G H | 60684 | 25751 | ORPHA:869 | Triple A syndrome | | | | 27 | | |
HP:0002579 | HP:0002571 | Achalasia | 4 | AAAS CL E G H | 8086 | 13666 | OMIM:231550 | Achalasia-Addisonianism-Alacrima syndrome | . | | | 57 | | |
HP:0002579 | HP:0002571 | Achalasia | 4 | AAAS CL E G H | 8086 | 13666 | ORPHA:869 | Triple A syndrome | HP:0040281 - Very frequent | | | 57 | | |
HP:0002579 | HP:0002571 | Achalasia | 4 | ACTB CL E G H | 60 | 132 | ORPHA:79107 | Developmental malformations-deafness-dystonia syndrome | HP:0040281 - Very frequent | | | 72 | | |
HP:0002579 | HP:0002571 | Achalasia | 4 | ACTB CL E G H | 60 | 132 | OMIM:607371 | Dystonia, juvenile-onset | . | | | 72 | | |
HP:0002579 | HP:0002571 | Achalasia | 4 | COL4A5 CL E G H | 1287 | 2207 | ORPHA:1018 | X-linked Alport syndrome-diffuse leiomyomatosis | HP:0040282 - Frequent | | | 678 | | |
HP:0002579 | HP:0002571 | Achalasia | 4 | COL4A6 CL E G H | 1288 | 2208 | ORPHA:1018 | X-linked Alport syndrome-diffuse leiomyomatosis | HP:0040282 - Frequent | | | 18 | | |
HP:0002579 | HP:0002571 | Achalasia | 4 | FLVCR1 CL E G H | 28982 | 24682 | OMIM:609033 | Ataxia, posterior column, with retinitis pigmentosa | . | HP:0011463 - Childhood onset | | 111 | | |
HP:0002579 | HP:0002571 | Achalasia | 4 | GLA CL E G H | 2717 | 4296 | ORPHA:324 | Fabry disease | HP:0040283 - Occasional | | | 291 | | |
HP:0002579 | HP:0002571 | Achalasia | 4 | GMPPA CL E G H | 29926 | 22923 | OMIM:615510 | Alacrima, achalasia, and mental retardation syndrome | . | | | 24 | | |
HP:0002579 | HP:0002571 | Achalasia | 4 | GMPPA CL E G H | 29926 | 22923 | ORPHA:869 | Triple A syndrome | HP:0040281 - Very frequent | | | 24 | | |
HP:0002579 | HP:0002571 | Achalasia | 4 | GUCY1A1 CL E G H | 2982 | 4685 | OMIM:615750 | Moyamoya disease 6 with achalasia | . | | | | | |
HP:0002579 | HP:0002571 | Achalasia | 4 | IARS2 CL E G H | 55699 | 29685 | ORPHA:436174 | Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome | HP:0040281 - Very frequent | | | 25 | | |
HP:0002579 | HP:0002571 | Achalasia | 4 | IARS2 CL E G H | 55699 | 29685 | OMIM:616007 | Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia | | | | 25 | | |
HP:0002579 | HP:0002571 | Achalasia | 4 | IVNS1ABP CL E G H | 10625 | 16951 | OMIM:618969 | IMMUNODEFICIENCY 70; IMD70 | | | | | | |
HP:0002579 | HP:0002571 | Achalasia | 4 | MEIS2 CL E G H | 4212 | 7001 | OMIM:600987 | Cleft palate, cardiac defects, and mental retardation | | | | 7 | | |
HP:0002579 | HP:0002571 | Achalasia | 4 | MYO1H CL E G H | 283446 | 13879 | OMIM:619482 | CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2 | | | | | | |
HP:0002579 | HP:0002571 | Achalasia | 4 | SAMD9 CL E G H | 54809 | 1348 | OMIM:617053 | Mirage syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0002579 | HP:0002571 | Achalasia | 4 | STAT3 CL E G H | 6774 | 11364 | OMIM:615952 | AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1 | | | | 110 | | |
HP:0002579 | HP:0002571 | Achalasia | 4 | TRAPPC11 CL E G H | 60684 | 25751 | OMIM:615356 | Muscular dystrophy, limb-girdle, autosomal recessive 18 | HP:0040283 - Occasional | | | 27 | | |
HP:0002579 | HP:0002571 | Achalasia | 4 | TRAPPC11 CL E G H | 60684 | 25751 | ORPHA:869 | Triple A syndrome | HP:0040281 - Very frequent | | | 27 | | |