Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | ACTG2 CL E G H | 72 | 145 | ORPHA:2604 | Familial visceral myopathy | HP:0040282 - Frequent | | | 23 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | ACTG2 CL E G H | 72 | 145 | ORPHA:2241 | Megacystis-microcolon-intestinal hypoperistalsis syndrome | HP:0040281 - Very frequent | | | 23 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | ACTG2 CL E G H | 72 | 145 | OMIM:155310 | Visceral myopathy 1 | | | | 23 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | ALAD CL E G H | 210 | 395 | ORPHA:100924 | Porphyria due to ALA dehydratase deficiency | HP:0040283 - Occasional | | | 62 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | ALDOB CL E G H | 229 | 417 | ORPHA:469 | Hereditary fructose intolerance | HP:0040283 - Occasional | | | 73 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | ALG8 CL E G H | 79053 | 23161 | OMIM:608104 | Congenital disorder of glycosylation, type Ih | . | | | 46 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | ANK1 CL E G H | 286 | 492 | ORPHA:822 | Hereditary spherocytosis | HP:0040284 - Very rare | | | 150 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | ANO1 CL E G H | 55107 | 21625 | OMIM:620045 | | | | | | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | ARSA CL E G H | 410 | 713 | ORPHA:309271 | Metachromatic leukodystrophy, adult form | HP:0040283 - Occasional | | | 253 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | ARSA CL E G H | 410 | 713 | ORPHA:309263 | Metachromatic leukodystrophy, juvenile form | HP:0040283 - Occasional | | | 253 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | ARSA CL E G H | 410 | 713 | ORPHA:309256 | Metachromatic leukodystrophy, late infantile form | HP:0040283 - Occasional | | | 253 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | ATP1A2 CL E G H | 477 | 800 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040282 - Frequent | | | 239 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | ATP1A3 CL E G H | 478 | 801 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040282 - Frequent | | | 150 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | ATP7B CL E G H | 540 | 870 | OMIM:277900 | Wilson disease | | | | 315 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | BMPER CL E G H | 168667 | 24154 | OMIM:608022 | DIAPHANOSPONDYLODYSOSTOSIS | | | | 78 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | BRCA1 CL E G H | 672 | 1100 | ORPHA:168829 | Primary peritoneal carcinoma | HP:0040281 - Very frequent | | | 5769 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | C2ORF69 CL E G H | 205327 | 26799 | OMIM:619423 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53 | | | | | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | CACNA1A CL E G H | 773 | 1388 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040282 - Frequent | | | 449 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | CLMP CL E G H | 79827 | 24039 | OMIM:615237 | Congenital short bowel syndrome | | | | 7 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | COL11A1 CL E G H | 1301 | 2186 | OMIM:228520 | Fibrochondrogenesis 1 | | | | 215 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | COL11A2 CL E G H | 1302 | 2187 | OMIM:614524 | Fibrochondrogenesis 2 | | | | 222 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:200610 | Achondrogenesis, type II | . | | | 284 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:85166 | Platyspondylic dysplasia, Torrance type | HP:0040281 - Very frequent | | | 284 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:151210 | Platyspondylic lethal skeletal dysplasia, Torrance type | | | | 284 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:184250 | Spondyloepimetaphyseal dysplasia, Strudwick type | | | | 284 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | CYP27B1 CL E G H | 1594 | 2606 | ORPHA:289157 | Hypocalcemic vitamin D-dependent rickets | | | | 41 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | CYP27B1 CL E G H | 1594 | 2606 | OMIM:264700 | Vitamin D hydroxylation-deficient rickets, type 1A | | | | 41 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | CYP2R1 CL E G H | 120227 | 20580 | ORPHA:289157 | Hypocalcemic vitamin D-dependent rickets | | | | 5 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | DDRGK1 CL E G H | 65992 | 16110 | ORPHA:93352 | Spondyloepimetaphyseal dysplasia, Shohat type | HP:0040283 - Occasional | | | | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | DDRGK1 CL E G H | 65992 | 16110 | OMIM:602557 | Spondyloepimetaphyseal dysplasia, Shohat type | . | | | | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | DLL3 CL E G H | 10683 | 2909 | OMIM:277300 | Spondylocostal dysostosis, autosomal recessive 1 | | | | 45 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | DYM CL E G H | 54808 | 21317 | ORPHA:239 | Dyggve-Melchior-Clausen disease | | | | 65 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | DYNC2H1 CL E G H | 79659 | 2962 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040281 - Very frequent | | | 304 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | DYNC2I1 CL E G H | 55112 | 21862 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040281 - Very frequent | | | | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | DYNC2I2 CL E G H | 89891 | 28296 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040281 - Very frequent | | | | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | EPB42 CL E G H | 2038 | 3381 | ORPHA:822 | Hereditary spherocytosis | HP:0040284 - Very rare | | | 51 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | EPCAM CL E G H | 4072 | 11529 | ORPHA:92050 | Congenital tufting enteropathy | HP:0040282 - Frequent | | | 170 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | EPHB4 CL E G H | 2050 | 3395 | OMIM:617300 | Lymphatic malformation 7 | . | | | 3 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | EWSR1 CL E G H | 2130 | 3508 | ORPHA:83469 | Desmoplastic small round cell tumor | HP:0040281 - Very frequent | | | | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:608328 | Weill-Marchesani syndrome 2, dominant | | | | 1361 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:187600 | Thanatophoric dysplasia, type I | | | | 145 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | FLI1 CL E G H | 2313 | 3749 | ORPHA:370348 | Peripheral primitive neuroectodermal tumor | HP:0040283 - Occasional | | | 8 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:300048 | Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked | . | | | 493 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | FLNB CL E G H | 2317 | 3755 | OMIM:108720 | Atelosteogenesis, type I | | | | 233 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | FOCAD CL E G H | 54914 | 23377 | OMIM:619991 | | | | | 3 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | FOXE1 CL E G H | 2304 | 3806 | ORPHA:95713 | Athyreosis | HP:0040281 - Very frequent | | | 9 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | FREM2 CL E G H | 341640 | 25396 | OMIM:617666 | Fraser syndrome 2 | . | | | 263 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | FSHR CL E G H | 2492 | 3969 | ORPHA:64739 | Ovarian hyperstimulation syndrome | HP:0040281 - Very frequent | | | 50 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | G6PC1 CL E G H | 2538 | 4056 | OMIM:232200 | Glycogen storage disease ia | | | | | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:230900 | Gaucher disease, type II | | | | | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | GNE CL E G H | 10020 | 23657 | OMIM:269921 | SIALURIA | | | | 173 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252500 | Mucolipidosis II alpha/beta | | | | 240 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | GNPTAB CL E G H | 79158 | 29670 | ORPHA:576 | Mucolipidosis type II | | | | 240 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | HLA-DQA1 CL E G H | 3117 | 4942 | OMIM:212750 | Celiac disease, susceptibility to, 1 | . | | | | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | HLA-DQB1 CL E G H | 3119 | 4944 | OMIM:212750 | Celiac disease, susceptibility to, 1 | . | | | | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | HMBS CL E G H | 3145 | 4982 | ORPHA:79276 | Acute intermittent porphyria | HP:0040283 - Occasional | | | 81 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | IDUA CL E G H | 3425 | 5391 | OMIM:607014 | Hurler syndrome | | | | 115 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | IFT122 CL E G H | 55764 | 13556 | OMIM:218330 | Cranioectodermal dysplasia | | | | 93 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | IFT52 CL E G H | 51098 | 15901 | OMIM:617102 | Short-Rib thoracic dysplasia 16 with or without polydactyly | | | | 4 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | IFT80 CL E G H | 57560 | 29262 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040281 - Very frequent | | | 65 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | IL12A CL E G H | 3592 | 5969 | ORPHA:186 | Primary biliary cholangitis | HP:0040283 - Occasional | | | | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | IL12RB1 CL E G H | 3594 | 5971 | ORPHA:186 | Primary biliary cholangitis | HP:0040283 - Occasional | | | 46 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | INPPL1 CL E G H | 3636 | 6080 | OMIM:258480 | OPSISMODYSPLASIA | | | | 18 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | INSR CL E G H | 3643 | 6091 | OMIM:246200 | Donohue syndrome | . | | | 229 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | INSR CL E G H | 3643 | 6091 | ORPHA:508 | Leprechaunism | HP:0040282 - Frequent | | | 229 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | IPO8 CL E G H | 10526 | 9853 | OMIM:619472 | VISS syndrome | | | | | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | IRAK1 CL E G H | 3654 | 6112 | ORPHA:93552 | Pediatric systemic lupus erythematosus | HP:0040283 - Occasional | | | | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | IRF5 CL E G H | 3663 | 6120 | ORPHA:186 | Primary biliary cholangitis | HP:0040283 - Occasional | | | 4 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | ITGA6 CL E G H | 3655 | 6142 | ORPHA:79403 | Junctional epidermolysis bullosa with pyloric atresia | HP:0040281 - Very frequent | | | 79 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | ITGB4 CL E G H | 3691 | 6158 | ORPHA:158684 | Epidermolysis bullosa simplex with pyloric atresia | HP:0040282 - Frequent | | | 124 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | ITGB4 CL E G H | 3691 | 6158 | ORPHA:79403 | Junctional epidermolysis bullosa with pyloric atresia | HP:0040281 - Very frequent | | | 124 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | KAT6A CL E G H | 7994 | 13013 | OMIM:616268 | Arboleda-Tham syndrome | | | | 34 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | KIAA0753 CL E G H | 9851 | 29110 | OMIM:619479 | SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21 | | | | 4 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | KRT18 CL E G H | 3875 | 6430 | OMIM:215600 | Cirrhosis, familial | . | | | 19 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | LBR CL E G H | 3930 | 6518 | OMIM:215140 | Greenberg dysplasia | | | | 70 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | LBR CL E G H | 3930 | 6518 | OMIM:618019 | PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK | | | | 70 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | LIG3 CL E G H | 3980 | 6600 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040281 - Very frequent | | | 1 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | LIPA CL E G H | 3988 | 6617 | OMIM:278000 | Lysosomal acid lipase deficiency | | | | 73 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | LIPA CL E G H | 3988 | 6617 | ORPHA:75233 | Wolman disease | HP:0040281 - Very frequent | | | 73 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | LMOD1 CL E G H | 25802 | 6647 | ORPHA:2241 | Megacystis-microcolon-intestinal hypoperistalsis syndrome | HP:0040281 - Very frequent | | | | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | LMOD1 CL E G H | 25802 | 6647 | OMIM:619362 | MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 3; MMIHS3 | | | | | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | LRP5 CL E G H | 4041 | 6697 | ORPHA:2924 | Isolated polycystic liver disease | HP:0040281 - Very frequent | | | 125 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | LYSET CL E G H | 26175 | 20218 | OMIM:619345 | DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE; DMAN | | | | | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | MESP2 CL E G H | 145873 | 29659 | OMIM:277300 | Spondylocostal dysostosis, autosomal recessive 1 | | | | 45 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | MMEL1 CL E G H | 79258 | 14668 | ORPHA:186 | Primary biliary cholangitis | HP:0040283 - Occasional | | | | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | MNX1 CL E G H | 3110 | 4979 | OMIM:176450 | Currarino syndrome | . | | | 17 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | MPV17 CL E G H | 4358 | 7224 | OMIM:256810 | Navajo neurohepatopathy | | | | 56 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | MTOR CL E G H | 2475 | 3942 | ORPHA:457485 | Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | | | | 68 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | MYH11 CL E G H | 4629 | 7569 | ORPHA:2241 | Megacystis-microcolon-intestinal hypoperistalsis syndrome | HP:0040281 - Very frequent | | | 418 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | MYH11 CL E G H | 4629 | 7569 | OMIM:619351 | MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2 | | | | 418 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | MYL9 CL E G H | 10398 | 15754 | OMIM:619365 | MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 4; MMIHS4 | | | | | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | MYLK CL E G H | 4638 | 7590 | ORPHA:2241 | Megacystis-microcolon-intestinal hypoperistalsis syndrome | HP:0040281 - Very frequent | | | 326 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | MYO5B CL E G H | 4645 | 7603 | ORPHA:2290 | Microvillus inclusion disease | HP:0040282 - Frequent | | | 192 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | NKX2-1 CL E G H | 7080 | 11825 | ORPHA:95713 | Athyreosis | HP:0040281 - Very frequent | | | 51 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | NKX2-5 CL E G H | 1482 | 2488 | ORPHA:95713 | Athyreosis | HP:0040281 - Very frequent | | | 90 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | NKX2-5 CL E G H | 1482 | 2488 | ORPHA:95712 | Thyroid ectopia | HP:0040281 - Very frequent | | | 90 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | NKX3-2 CL E G H | 579 | 951 | OMIM:613330 | Spondylo-Megaepiphyseal-Metaphyseal dysplasia | | | | 10 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | NPHS1 CL E G H | 4868 | 7908 | OMIM:256300 | Nephrotic syndrome, type 1 | . | | | 241 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | PAX8 CL E G H | 7849 | 8622 | ORPHA:95713 | Athyreosis | HP:0040281 - Very frequent | | | 63 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | PAX8 CL E G H | 7849 | 8622 | OMIM:218700 | Hypothyroidism, congenital, nongoitrous, 2 | . | | | 63 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | PAX8 CL E G H | 7849 | 8622 | ORPHA:95712 | Thyroid ectopia | HP:0040281 - Very frequent | | | 63 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | PAX8 CL E G H | 7849 | 8622 | ORPHA:95720 | Thyroid hypoplasia | HP:0040281 - Very frequent | | | 63 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | PERCC1 CL E G H | 105371045 | 52293 | ORPHA:92050 | Congenital tufting enteropathy | HP:0040282 - Frequent | | | | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | PI4KA CL E G H | 5297 | 8983 | ORPHA:436252 | Combined immunodeficiency-enteropathy spectrum | HP:0040282 - Frequent | | | 11 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | PLEC CL E G H | 5339 | 9069 | ORPHA:158684 | Epidermolysis bullosa simplex with pyloric atresia | HP:0040282 - Frequent | | | 759 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | POLG CL E G H | 5428 | 9179 | OMIM:613662 | Mitochondrial DNA depletion syndrome 4B (mngie type) | . | | | 464 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040281 - Very frequent | | | 464 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | POLG2 CL E G H | 11232 | 9180 | OMIM:618528 | Mitochondrial DNA depletion syndrome 16 (hepatic type) | . | | | 45 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | POU2AF1 CL E G H | 5450 | 9211 | ORPHA:186 | Primary biliary cholangitis | HP:0040283 - Occasional | | | | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | PRKCSH CL E G H | 5589 | 9411 | ORPHA:2924 | Isolated polycystic liver disease | HP:0040281 - Very frequent | | | 63 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | PRKCSH CL E G H | 5589 | 9411 | OMIM:174050 | Polycystic liver disease 1 with or without kidney cysts | . | | | 63 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | PSAP CL E G H | 5660 | 9498 | ORPHA:309271 | Metachromatic leukodystrophy, adult form | HP:0040283 - Occasional | | | 81 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | PSAP CL E G H | 5660 | 9498 | ORPHA:309263 | Metachromatic leukodystrophy, juvenile form | HP:0040283 - Occasional | | | 81 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | PSAP CL E G H | 5660 | 9498 | ORPHA:309256 | Metachromatic leukodystrophy, late infantile form | HP:0040283 - Occasional | | | 81 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | PSAT1 CL E G H | 29968 | 19129 | OMIM:616038 | Neu-Laxova syndrome 2 | | | | 27 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | PSMB8 CL E G H | 5696 | 9545 | OMIM:256040 | Proteasome-associated autoinflammatory syndrome 1 and digenic forms | | | | 20 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | PTH1R CL E G H | 5745 | 9608 | ORPHA:50945 | Blomstrand lethal chondrodysplasia | | | | 58 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | PYGL CL E G H | 5836 | 9725 | ORPHA:369 | Glycogen storage disease due to liver glycogen phosphorylase deficiency | HP:0040283 - Occasional | | | 71 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | RET CL E G H | 5979 | 9967 | OMIM:142623 | Hirschsprung disease, susceptibility to, 1 | . | | | 572 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | RRM2B CL E G H | 50484 | 17296 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040281 - Very frequent | | | 125 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | SAR1B CL E G H | 51128 | 10535 | ORPHA:71 | Chylomicron retention disease | HP:0040282 - Frequent | | | 8 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | SEC63 CL E G H | 11231 | 21082 | ORPHA:2924 | Isolated polycystic liver disease | HP:0040281 - Very frequent | | | 137 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | SI CL E G H | 6476 | 10856 | ORPHA:35122 | Congenital sucrase-isomaltase deficiency | HP:0040283 - Occasional | | | 98 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | SLC1A3 CL E G H | 6507 | 10941 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040282 - Frequent | | | 63 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | SLC26A2 CL E G H | 1836 | 10994 | OMIM:600972 | Achondrogenesis, type IB | . | | | 166 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:56304 | Atelosteogenesis type II | | | | 166 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | SLC26A3 CL E G H | 1811 | 3018 | OMIM:214700 | Diarrhea 1, secretory chloride, congenital | . | | | 89 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | SLC26A4 CL E G H | 5172 | 8818 | ORPHA:95713 | Athyreosis | HP:0040281 - Very frequent | | | 274 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | SLC26A4 CL E G H | 5172 | 8818 | ORPHA:95720 | Thyroid hypoplasia | HP:0040281 - Very frequent | | | 274 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | SLC2A2 CL E G H | 6514 | 11006 | ORPHA:2088 | Fanconi-Bickel syndrome | HP:0040282 - Frequent | | | 71 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | SLC2A2 CL E G H | 6514 | 11006 | OMIM:227810 | Fanconi-Bickel syndrome | . | | | 71 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | SLC35D1 CL E G H | 23169 | 20800 | OMIM:269250 | Schneckenbecken dysplasia | | | | 9 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | SLC37A4 CL E G H | 2542 | 4061 | ORPHA:79259 | Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib | | | | 110 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:232220 | Glycogen storage disease ib | | | | 110 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | SLC4A1 CL E G H | 6521 | 11027 | ORPHA:822 | Hereditary spherocytosis | HP:0040284 - Very rare | | | 109 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | SLC5A1 CL E G H | 6523 | 11036 | ORPHA:35710 | Glucose-galactose malabsorption | HP:0040282 - Frequent | | | 74 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | SLC5A1 CL E G H | 6523 | 11036 | OMIM:606824 | Glucose/galactose malabsorption | . | | | 74 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | SLC9A3 CL E G H | 6550 | 11073 | OMIM:616868 | Diarrhea 8, secretory sodium, congenital | | | | 7 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | SMARCAL1 CL E G H | 50485 | 11102 | OMIM:242900 | Immunoosseous dysplasia, Schimke type | | | | 74 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | SMARCAL1 CL E G H | 50485 | 11102 | ORPHA:1830 | Schimke immuno-osseous dysplasia | HP:0040282 - Frequent | | | 74 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | SMPD1 CL E G H | 6609 | 11120 | OMIM:257200 | Niemann-Pick disease, type A | | | | 164 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | SPIB CL E G H | 6689 | 11242 | ORPHA:186 | Primary biliary cholangitis | HP:0040283 - Occasional | | | | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | SPINT2 CL E G H | 10653 | 11247 | OMIM:270420 | Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies | . | | | 6 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | SPP1 CL E G H | 6696 | 11255 | ORPHA:93552 | Pediatric systemic lupus erythematosus | HP:0040283 - Occasional | | | | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | SPTA1 CL E G H | 6708 | 11272 | ORPHA:822 | Hereditary spherocytosis | HP:0040284 - Very rare | | | 228 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | SPTB CL E G H | 6710 | 11274 | ORPHA:822 | Hereditary spherocytosis | HP:0040284 - Very rare | | | 156 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | STAT4 CL E G H | 6775 | 11365 | ORPHA:93552 | Pediatric systemic lupus erythematosus | HP:0040283 - Occasional | | | 2 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | STX3 CL E G H | 6809 | 11438 | OMIM:619445 | DIARRHEA 12, WITH MICROVILLUS ATROPHY; DIAR12 | | | | 1 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | STX3 CL E G H | 6809 | 11438 | ORPHA:2290 | Microvillus inclusion disease | HP:0040282 - Frequent | | | 1 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | TCTN2 CL E G H | 79867 | 25774 | OMIM:613885 | Meckel syndrome, type 8 | . | | | 76 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | TNFSF15 CL E G H | 9966 | 11931 | ORPHA:186 | Primary biliary cholangitis | HP:0040283 - Occasional | | | | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | TNPO3 CL E G H | 23534 | 17103 | ORPHA:186 | Primary biliary cholangitis | HP:0040283 - Occasional | | | 71 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | TREH CL E G H | 11181 | 12266 | ORPHA:103909 | Trehalase deficiency | | | | 2 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | TRIP11 CL E G H | 9321 | 12305 | ORPHA:93299 | Achondrogenesis type 1A | HP:0040281 - Very frequent | | | 133 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | TRIP11 CL E G H | 9321 | 12305 | OMIM:200600 | Achondrogenesis, type IA | | | | 133 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | TRMU CL E G H | 55687 | 25481 | OMIM:613070 | Liver failure, infantile, transient | . | | | 101 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | TSHR CL E G H | 7253 | 12373 | ORPHA:95713 | Athyreosis | HP:0040281 - Very frequent | | | 97 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | TSHR CL E G H | 7253 | 12373 | ORPHA:95720 | Thyroid hypoplasia | HP:0040281 - Very frequent | | | 97 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | TTC26 CL E G H | 79989 | 21882 | OMIM:619534 | BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS | | | | | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | TTC7A CL E G H | 57217 | 19750 | ORPHA:436252 | Combined immunodeficiency-enteropathy spectrum | HP:0040282 - Frequent | | | 26 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | TXNDC15 CL E G H | 79770 | 20652 | OMIM:619879 | | | | | 2 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | TYMP CL E G H | 1890 | 3148 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040281 - Very frequent | | | 138 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | VDR CL E G H | 7421 | 12679 | OMIM:277440 | Vitamin d-dependent rickets, type 2A | | | | 104 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | WDR35 CL E G H | 57539 | 29250 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040281 - Very frequent | | | 136 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | WT1 CL E G H | 7490 | 12796 | ORPHA:83469 | Desmoplastic small round cell tumor | HP:0040281 - Very frequent | | | 177 | | |
HP:0003270 | HP:0003270 | Abdominal distention | 0 | ZEB2 CL E G H | 9839 | 14881 | OMIM:235730 | Mowat-Wilson syndrome | . | | | 362 | | |
HP:0003270 | HP:0001538 | Protuberant abdomen | 1 | BMPER CL E G H | 168667 | 24154 | OMIM:608022 | DIAPHANOSPONDYLODYSOSTOSIS | . | | | 78 | | |
HP:0003270 | HP:0001538 | Protuberant abdomen | 1 | COL11A1 CL E G H | 1301 | 2186 | OMIM:228520 | Fibrochondrogenesis 1 | . | | | 215 | | |
HP:0003270 | HP:0001538 | Protuberant abdomen | 1 | COL11A2 CL E G H | 1302 | 2187 | OMIM:614524 | Fibrochondrogenesis 2 | . | | | 222 | | |
HP:0003270 | HP:0001538 | Protuberant abdomen | 1 | COL2A1 CL E G H | 1280 | 2200 | OMIM:200610 | Achondrogenesis, type II | | | | 284 | | |
HP:0003270 | HP:0001538 | Protuberant abdomen | 1 | COL2A1 CL E G H | 1280 | 2200 | OMIM:151210 | Platyspondylic lethal skeletal dysplasia, Torrance type | . | | | 284 | | |
HP:0003270 | HP:0001538 | Protuberant abdomen | 1 | COL2A1 CL E G H | 1280 | 2200 | OMIM:184250 | Spondyloepimetaphyseal dysplasia, Strudwick type | . | | | 284 | | |
HP:0003270 | HP:0001538 | Protuberant abdomen | 1 | CYP27B1 CL E G H | 1594 | 2606 | ORPHA:289157 | Hypocalcemic vitamin D-dependent rickets | HP:0040283 - Occasional | | | 41 | | |
HP:0003270 | HP:0001538 | Protuberant abdomen | 1 | CYP27B1 CL E G H | 1594 | 2606 | OMIM:264700 | Vitamin D hydroxylation-deficient rickets, type 1A | . | | | 41 | | |
HP:0003270 | HP:0001538 | Protuberant abdomen | 1 | CYP2R1 CL E G H | 120227 | 20580 | ORPHA:289157 | Hypocalcemic vitamin D-dependent rickets | HP:0040283 - Occasional | | | 5 | | |
HP:0003270 | HP:0001538 | Protuberant abdomen | 1 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | 1 | | |
HP:0003270 | HP:0001538 | Protuberant abdomen | 1 | DLL3 CL E G H | 10683 | 2909 | OMIM:277300 | Spondylocostal dysostosis, autosomal recessive 1 | | | | 45 | | |
HP:0003270 | HP:0001538 | Protuberant abdomen | 1 | DYM CL E G H | 54808 | 21317 | ORPHA:239 | Dyggve-Melchior-Clausen disease | HP:0040283 - Occasional | | | 65 | | |
HP:0003270 | HP:0001538 | Protuberant abdomen | 1 | FBN1 CL E G H | 2200 | 3603 | OMIM:608328 | Weill-Marchesani syndrome 2, dominant | | | | 1361 | | |
HP:0003270 | HP:0001538 | Protuberant abdomen | 1 | FGFR3 CL E G H | 2261 | 3690 | OMIM:187600 | Thanatophoric dysplasia, type I | | | | 145 | | |
HP:0003270 | HP:0001538 | Protuberant abdomen | 1 | FLNB CL E G H | 2317 | 3755 | OMIM:108720 | Atelosteogenesis, type I | | | | 233 | | |
HP:0003270 | HP:0001538 | Protuberant abdomen | 1 | G6PC1 CL E G H | 2538 | 4056 | OMIM:232200 | Glycogen storage disease ia | . | | | | | |
HP:0003270 | HP:0001538 | Protuberant abdomen | 1 | GBA1 CL E G H | 2629 | 4177 | OMIM:230900 | Gaucher disease, type II | . | | | | | |
HP:0003270 | HP:0001538 | Protuberant abdomen | 1 | GNE CL E G H | 10020 | 23657 | OMIM:269921 | SIALURIA | . | | | 173 | | |
HP:0003270 | HP:0001538 | Protuberant abdomen | 1 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252500 | Mucolipidosis II alpha/beta | . | | | 240 | | |
HP:0003270 | HP:0001538 | Protuberant abdomen | 1 | GNPTAB CL E G H | 79158 | 29670 | ORPHA:576 | Mucolipidosis type II | HP:0040281 - Very frequent | | | 240 | | |
HP:0003270 | HP:0001538 | Protuberant abdomen | 1 | IDUA CL E G H | 3425 | 5391 | OMIM:607014 | Hurler syndrome | | | | 115 | | |
HP:0003270 | HP:0001538 | Protuberant abdomen | 1 | IFT122 CL E G H | 55764 | 13556 | OMIM:218330 | Cranioectodermal dysplasia | . | | | 93 | | |
HP:0003270 | HP:0001538 | Protuberant abdomen | 1 | IFT52 CL E G H | 51098 | 15901 | OMIM:617102 | Short-Rib thoracic dysplasia 16 with or without polydactyly | . | | | 4 | | |
HP:0003270 | HP:0001538 | Protuberant abdomen | 1 | INPPL1 CL E G H | 3636 | 6080 | OMIM:258480 | OPSISMODYSPLASIA | . | | | 18 | | |
HP:0003270 | HP:0001538 | Protuberant abdomen | 1 | KAT6A CL E G H | 7994 | 13013 | OMIM:616268 | Arboleda-Tham syndrome | | | | 34 | | |
HP:0003270 | HP:0001538 | Protuberant abdomen | 1 | KIAA0753 CL E G H | 9851 | 29110 | OMIM:619479 | SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21 | | | | 4 | | |
HP:0003270 | HP:0001538 | Protuberant abdomen | 1 | LBR CL E G H | 3930 | 6518 | OMIM:215140 | Greenberg dysplasia | | | | 70 | | |
HP:0003270 | HP:0001538 | Protuberant abdomen | 1 | LBR CL E G H | 3930 | 6518 | OMIM:618019 | PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK | | | | 70 | | |
HP:0003270 | HP:0001538 | Protuberant abdomen | 1 | LIPA CL E G H | 3988 | 6617 | OMIM:278000 | Lysosomal acid lipase deficiency | | | | 73 | | |
HP:0003270 | HP:0001538 | Protuberant abdomen | 1 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | 1 | | |
HP:0003270 | HP:0001538 | Protuberant abdomen | 1 | MESP2 CL E G H | 145873 | 29659 | OMIM:277300 | Spondylocostal dysostosis, autosomal recessive 1 | | | | 45 | | |
HP:0003270 | HP:0001538 | Protuberant abdomen | 1 | MTOR CL E G H | 2475 | 3942 | ORPHA:457485 | Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | HP:0040283 - Occasional | | | 68 | | |
HP:0003270 | HP:0001538 | Protuberant abdomen | 1 | NKX3-2 CL E G H | 579 | 951 | OMIM:613330 | Spondylo-Megaepiphyseal-Metaphyseal dysplasia | . | | | 10 | | |
HP:0003270 | HP:0001538 | Protuberant abdomen | 1 | PSAT1 CL E G H | 29968 | 19129 | OMIM:616038 | Neu-Laxova syndrome 2 | | | | 27 | | |
HP:0003270 | HP:0001538 | Protuberant abdomen | 1 | PSMB8 CL E G H | 5696 | 9545 | OMIM:256040 | Proteasome-associated autoinflammatory syndrome 1 and digenic forms | | | | 20 | | |
HP:0003270 | HP:0001538 | Protuberant abdomen | 1 | PTH1R CL E G H | 5745 | 9608 | ORPHA:50945 | Blomstrand lethal chondrodysplasia | HP:0040281 - Very frequent | | | 58 | | |
HP:0003270 | HP:0001538 | Protuberant abdomen | 1 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | | | |
HP:0003270 | HP:0001538 | Protuberant abdomen | 1 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:56304 | Atelosteogenesis type II | HP:0040283 - Occasional | | | 166 | | |
HP:0003270 | HP:0001538 | Protuberant abdomen | 1 | SLC35D1 CL E G H | 23169 | 20800 | OMIM:269250 | Schneckenbecken dysplasia | | | | 9 | | |
HP:0003270 | HP:0001538 | Protuberant abdomen | 1 | SLC37A4 CL E G H | 2542 | 4061 | ORPHA:79259 | Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib | HP:0040281 - Very frequent | | | 110 | | |
HP:0003270 | HP:0001538 | Protuberant abdomen | 1 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:232220 | Glycogen storage disease ib | . | | | 110 | | |
HP:0003270 | HP:0001538 | Protuberant abdomen | 1 | SMARCAL1 CL E G H | 50485 | 11102 | OMIM:242900 | Immunoosseous dysplasia, Schimke type | . | | | 74 | | |
HP:0003270 | HP:0001538 | Protuberant abdomen | 1 | SMPD1 CL E G H | 6609 | 11120 | OMIM:257200 | Niemann-Pick disease, type A | . | | | 164 | | |
HP:0003270 | HP:0001538 | Protuberant abdomen | 1 | TRIP11 CL E G H | 9321 | 12305 | OMIM:200600 | Achondrogenesis, type IA | . | | | 133 | | |
HP:0003270 | HP:0001538 | Protuberant abdomen | 1 | TXNDC15 CL E G H | 79770 | 20652 | OMIM:619879 | | | | | 2 | | |
HP:0003270 | HP:0001538 | Protuberant abdomen | 1 | VDR CL E G H | 7421 | 12679 | OMIM:277440 | Vitamin d-dependent rickets, type 2A | . | | | 104 | | |