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:0001541 | HP:0001541 | Ascites | 0 | ABCB11 CL E G H | 8647 | 42 | ORPHA:69665 | Intrahepatic cholestasis of pregnancy | HP:0040284 - Very rare | | | 146 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | ABCB4 CL E G H | 5244 | 45 | ORPHA:69665 | Intrahepatic cholestasis of pregnancy | HP:0040284 - Very rare | | | 111 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | ABCC6 CL E G H | 368 | 57 | ORPHA:51608 | Generalized arterial calcification of infancy | HP:0040283 - Occasional | | | 415 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | ADAMTS3 CL E G H | 9508 | 219 | ORPHA:2136 | Hennekam syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | AGGF1 CL E G H | 55109 | 24684 | ORPHA:90308 | Klippel-Trénaunay syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | ALG8 CL E G H | 79053 | 23161 | ORPHA:79325 | ALG8-CDG | HP:0040282 - Frequent | | | 46 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | ALG8 CL E G H | 79053 | 23161 | OMIM:608104 | Congenital disorder of glycosylation, type Ih | . | | | 46 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | ALG9 CL E G H | 79796 | 15672 | OMIM:608776 | Congenital disorder of glycosylation, type Il | . | | | 93 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | ARHGAP31 CL E G H | 57514 | 29216 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 147 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | ARL6IP6 CL E G H | 151188 | 24048 | ORPHA:1556 | Cutis marmorata telangiectatica congenita | HP:0040283 - Occasional | | | 1 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | ASAH1 CL E G H | 427 | 735 | ORPHA:333 | Farber disease | HP:0040284 - Very rare | | | 78 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040283 - Occasional | | | 145 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | ATP6AP2 CL E G H | 10159 | 18305 | OMIM:301045 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R | | | | 36 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | ATP7B CL E G H | 540 | 870 | OMIM:277900 | Wilson disease | | | | 315 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | ATP8B1 CL E G H | 5205 | 3706 | ORPHA:69665 | Intrahepatic cholestasis of pregnancy | HP:0040284 - Very rare | | | 144 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | BMP2 CL E G H | 650 | 1069 | OMIM:235200 | Hemochromatosis, type 1 | . | | | 13 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | BUB1 CL E G H | 699 | 1148 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | BUB1B CL E G H | 701 | 1149 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040281 - Very frequent | | | 76 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | BUB3 CL E G H | 9184 | 1151 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001541 | HP:0001541 | Ascites | 0 | CALR CL E G H | 811 | 1455 | ORPHA:131 | Budd-Chiari syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | CBL CL E G H | 867 | 1541 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040283 - Occasional | | | 317 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | CCBE1 CL E G H | 147372 | 29426 | ORPHA:2136 | Hennekam syndrome | HP:0040282 - Frequent | | | 147 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | CD27 CL E G H | 939 | 11922 | OMIM:615122 | Lymphoproliferative syndrome 2 | HP:0040283 - Occasional | | | 4 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | CD55 CL E G H | 1604 | 2665 | OMIM:226300 | Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy | . | | | 9 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | CEP57 CL E G H | 9702 | 30794 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040281 - Very frequent | | | 17 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | CYBB CL E G H | 1536 | 2578 | OMIM:306400 | Chronic granulomatous disease, X-linked | | | | 111 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | DCDC2 CL E G H | 51473 | 18141 | OMIM:617394 | Sclerosing cholangitis, neonatal | | | | 8 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | DCDC2 CL E G H | 51473 | 18141 | ORPHA:84081 | Senior-Boichis syndrome | | | | 8 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | DEF6 CL E G H | 50619 | 2760 | OMIM:619573 | IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87 | | | | | | |
HP:0001541 | HP:0001541 | Ascites | 0 | DGUOK CL E G H | 1716 | 2858 | OMIM:251880 | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | . | | | 57 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | DIS3L2 CL E G H | 129563 | 28648 | OMIM:267000 | Perlman syndrome | . | | | 164 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | DLL4 CL E G H | 54567 | 2910 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | DNASE1L3 CL E G H | 1776 | 2959 | ORPHA:36412 | Hypocomplementemic urticarial vasculitis | HP:0040283 - Occasional | | | 3 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | DOCK6 CL E G H | 57572 | 19189 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 18 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | DZIP1L CL E G H | 199221 | 26551 | ORPHA:731 | Autosomal recessive polycystic kidney disease | HP:0040283 - Occasional | | | 4 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | EIF2AK3 CL E G H | 9451 | 3255 | ORPHA:1667 | Wolcott-Rallison syndrome | HP:0040284 - Very rare | | | 65 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | EIF5A CL E G H | 1984 | 3300 | OMIM:619376 | FAUNDES-BANKA SYNDROME; FABAS | | | | | | |
HP:0001541 | HP:0001541 | Ascites | 0 | ENPP1 CL E G H | 5167 | 3356 | ORPHA:51608 | Generalized arterial calcification of infancy | HP:0040283 - Occasional | | | 151 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | EOGT CL E G H | 285203 | 28526 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | ERCC4 CL E G H | 2072 | 3436 | OMIM:610965 | XFE progeroid syndrome | . | | | 158 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | EWSR1 CL E G H | 2130 | 3508 | ORPHA:83469 | Desmoplastic small round cell tumor | HP:0040283 - Occasional | | | | | |
HP:0001541 | HP:0001541 | Ascites | 0 | F5 CL E G H | 2153 | 3542 | ORPHA:131 | Budd-Chiari syndrome | HP:0040281 - Very frequent | | | 159 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | FAH CL E G H | 2184 | 3579 | OMIM:276700 | Tyrosinemia, type I | . | | | 107 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | FAM111A CL E G H | 63901 | 24725 | OMIM:602361 | Gracile bone dysplasia | . | | | 8 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | FARSB CL E G H | 10056 | 17800 | OMIM:613658 | Rajab interstitial lung disease with brain calcifications | | | | | | |
HP:0001541 | HP:0001541 | Ascites | 0 | FAT4 CL E G H | 79633 | 23109 | ORPHA:2136 | Hennekam syndrome | HP:0040282 - Frequent | | | 114 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | FLI1 CL E G H | 2313 | 3749 | ORPHA:370348 | Peripheral primitive neuroectodermal tumor | HP:0040283 - Occasional | | | 8 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | FOCAD CL E G H | 54914 | 23377 | OMIM:619991 | | | | | 3 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | FSHR CL E G H | 2492 | 3969 | OMIM:608115 | Ovarian hyperstimulation syndrome | . | | | 50 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | FSHR CL E G H | 2492 | 3969 | ORPHA:64739 | Ovarian hyperstimulation syndrome | HP:0040281 - Very frequent | | | 50 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | GALT CL E G H | 2592 | 4135 | ORPHA:79239 | Classic galactosemia | HP:0040284 - Very rare | | | 351 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:77259 | Gaucher disease type 1 | HP:0040283 - Occasional | | | | | |
HP:0001541 | HP:0001541 | Ascites | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:608013 | Gaucher disease, perinatal lethal | . | | | | | |
HP:0001541 | HP:0001541 | Ascites | 0 | GBE1 CL E G H | 2632 | 4180 | OMIM:232500 | Glycogen storage disease IV | . | | | 86 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | GIMAP5 CL E G H | 55340 | 18005 | OMIM:619463 | PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2 | | | | | | |
HP:0001541 | HP:0001541 | Ascites | 0 | GNA11 CL E G H | 2767 | 4379 | ORPHA:1556 | Cutis marmorata telangiectatica congenita | HP:0040283 - Occasional | | | 16 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0001541 | HP:0001541 | Ascites | 0 | GPR35 CL E G H | 2859 | 4492 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040282 - Frequent | | | 2 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | GUSB CL E G H | 2990 | 4696 | ORPHA:584 | Mucopolysaccharidosis type 7 | HP:0040281 - Very frequent | | | 54 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | HFE CL E G H | 3077 | 4886 | OMIM:235200 | Hemochromatosis, type 1 | . | | | 38 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | HSD17B4 CL E G H | 3295 | 5213 | OMIM:261515 | D-bifunctional protein deficiency | | | | 98 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | IL12A CL E G H | 3592 | 5969 | ORPHA:186 | Primary biliary cholangitis | HP:0040283 - Occasional | | | | | |
HP:0001541 | HP:0001541 | Ascites | 0 | IL12RB1 CL E G H | 3594 | 5971 | ORPHA:186 | Primary biliary cholangitis | HP:0040283 - Occasional | | | 46 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | IRAK1 CL E G H | 3654 | 6112 | ORPHA:93552 | Pediatric systemic lupus erythematosus | HP:0040283 - Occasional | | | | | |
HP:0001541 | HP:0001541 | Ascites | 0 | IRF5 CL E G H | 3663 | 6120 | ORPHA:186 | Primary biliary cholangitis | HP:0040283 - Occasional | | | 4 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | JAK2 CL E G H | 3717 | 6192 | ORPHA:131 | Budd-Chiari syndrome | HP:0040281 - Very frequent | | | 57 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | KIF20A CL E G H | 10112 | 9787 | OMIM:619433 | CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 6; RCM6 | | | | | | |
HP:0001541 | HP:0001541 | Ascites | 0 | KRT18 CL E G H | 3875 | 6430 | OMIM:215600 | Cirrhosis, familial | | | | 19 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | LBR CL E G H | 3930 | 6518 | ORPHA:779 | Reynolds syndrome | HP:0040283 - Occasional | | | 70 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | LIPA CL E G H | 3988 | 6617 | ORPHA:75233 | Wolman disease | HP:0040282 - Frequent | | | 73 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | MDFIC CL E G H | 29969 | 28870 | OMIM:620014 | | | | | | | |
HP:0001541 | HP:0001541 | Ascites | 0 | MEFV CL E G H | 4210 | 6998 | ORPHA:342 | Familial Mediterranean fever | HP:0040283 - Occasional | | | 281 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | MMEL1 CL E G H | 79258 | 14668 | ORPHA:186 | Primary biliary cholangitis | HP:0040283 - Occasional | | | | | |
HP:0001541 | HP:0001541 | Ascites | 0 | MPV17 CL E G H | 4358 | 7224 | OMIM:256810 | Navajo neurohepatopathy | | | | 56 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | MRPS22 CL E G H | 56945 | 14508 | OMIM:611719 | Combined oxidative phosphorylation deficiency 5 | . | | | 25 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | MST1 CL E G H | 4485 | 7380 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040282 - Frequent | | | 1 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | MYBPC3 CL E G H | 4607 | 7551 | OMIM:115197 | Cardiomyopathy, familial hypertrophic, 4 | . | | | 1143 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | NEU1 CL E G H | 4758 | 7758 | ORPHA:93400 | Congenital sialidosis type 2 | HP:0040282 - Frequent | | | 43 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | NEU1 CL E G H | 4758 | 7758 | OMIM:256550 | Neuraminidase deficiency | . | | | 43 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | NOTCH1 CL E G H | 4851 | 7881 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 452 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | NPC1 CL E G H | 4864 | 7897 | OMIM:257220 | Niemann-pick disease, type C1 | | | | 258 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | NPC2 CL E G H | 10577 | 14537 | OMIM:607625 | Niemann-pick disease, type C2 | | | | 33 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | NR1H4 CL E G H | 9971 | 7967 | OMIM:617049 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5 | | | | 14 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | NR1H4 CL E G H | 9971 | 7967 | ORPHA:69665 | Intrahepatic cholestasis of pregnancy | HP:0040284 - Very rare | | | 14 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | OSTM1 CL E G H | 28962 | 21652 | OMIM:259720 | Osteopetrosis, autosomal recessive 5 | . | | | 73 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | PIEZO1 CL E G H | 9780 | 28993 | OMIM:616843 | Lymphedema, hereditary, III | . | | | 36 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | PIGA CL E G H | 5277 | 8957 | OMIM:301072 | NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH | | | | 46 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | PKHD1 CL E G H | 5314 | 9016 | ORPHA:731 | Autosomal recessive polycystic kidney disease | HP:0040283 - Occasional | | | 563 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | PKHD1 CL E G H | 5314 | 9016 | ORPHA:53035 | Caroli disease | HP:0040283 - Occasional | | | 563 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | PLVAP CL E G H | 83483 | 13635 | OMIM:618183 | Diarrhea 10, protein-losing Enteropathy type | . | | | | | |
HP:0001541 | HP:0001541 | Ascites | 0 | POU2AF1 CL E G H | 5450 | 9211 | ORPHA:186 | Primary biliary cholangitis | HP:0040283 - Occasional | | | | | |
HP:0001541 | HP:0001541 | Ascites | 0 | PRG4 CL E G H | 10216 | 9364 | ORPHA:2848 | Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome | | | | 6 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | PRKAG2 CL E G H | 51422 | 9386 | OMIM:261740 | Glycogen storage disease of heart, lethal congenital | . | | | 235 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:615 | Familial atrial myxoma | HP:0040283 - Occasional | | | 134 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | PRKCSH CL E G H | 5589 | 9411 | OMIM:174050 | Polycystic liver disease 1 with or without kidney cysts | . | | | 63 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | RBPJ CL E G H | 3516 | 5724 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | RHBDF2 CL E G H | 79651 | 20788 | ORPHA:2198 | Palmoplantar keratoderma-esophageal carcinoma syndrome | HP:0040282 - Frequent | | | 80 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | RHD CL E G H | 6007 | 10009 | OMIM:619462 | Hemolytic disease of fetus and newborn, RH-induced | | | | 16 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | RNU7-1 CL E G H | 100147744 | 34033 | OMIM:619487 | AICARDI-GOUTIERES SYNDROME 9; AGS9 | | | | | | |
HP:0001541 | HP:0001541 | Ascites | 0 | RUNX1 CL E G H | 861 | 10471 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040283 - Occasional | | | 181 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | SCARB2 CL E G H | 950 | 1665 | ORPHA:77259 | Gaucher disease type 1 | HP:0040283 - Occasional | | | 77 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | SEMA4D CL E G H | 10507 | 10732 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040282 - Frequent | | | | | |
HP:0001541 | HP:0001541 | Ascites | 0 | SLC17A5 CL E G H | 26503 | 10933 | OMIM:269920 | Infantile sialic acid storage disease | . | | | 78 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | SMPD1 CL E G H | 6609 | 11120 | OMIM:257200 | Niemann-Pick disease, type A | | | | 164 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | SOX18 CL E G H | 54345 | 11194 | ORPHA:69735 | Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | SP110 CL E G H | 3431 | 5401 | ORPHA:79124 | Hepatic veno-occlusive disease-immunodeficiency syndrome | HP:0040283 - Occasional | | | 49 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | SPIB CL E G H | 6689 | 11242 | ORPHA:186 | Primary biliary cholangitis | HP:0040283 - Occasional | | | | | |
HP:0001541 | HP:0001541 | Ascites | 0 | SPP1 CL E G H | 6696 | 11255 | ORPHA:93552 | Pediatric systemic lupus erythematosus | HP:0040283 - Occasional | | | | | |
HP:0001541 | HP:0001541 | Ascites | 0 | SRSF2 CL E G H | 6427 | 10783 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040283 - Occasional | | | 1 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | STAT4 CL E G H | 6775 | 11365 | ORPHA:93552 | Pediatric systemic lupus erythematosus | HP:0040283 - Occasional | | | 2 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | TAPT1 CL E G H | 202018 | 26887 | OMIM:616897 | Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type | | | | 2 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | TCF4 CL E G H | 6925 | 11634 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040282 - Frequent | | | 241 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040283 - Occasional | | | 3 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | TFAM CL E G H | 7019 | 11741 | OMIM:617156 | Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) | . | | | 1 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:84081 | Senior-Boichis syndrome | | | | 166 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | TNFSF15 CL E G H | 9966 | 11931 | ORPHA:186 | Primary biliary cholangitis | HP:0040283 - Occasional | | | | | |
HP:0001541 | HP:0001541 | Ascites | 0 | TNPO3 CL E G H | 23534 | 17103 | ORPHA:186 | Primary biliary cholangitis | HP:0040283 - Occasional | | | 71 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | TRIM37 CL E G H | 4591 | 7523 | OMIM:253250 | Mulibrey nanism | | | | 78 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | TRIP13 CL E G H | 9319 | 12307 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | TSC1 CL E G H | 7248 | 12362 | ORPHA:538 | Lymphangioleiomyomatosis | HP:0040283 - Occasional | | | 1090 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | TSC2 CL E G H | 7249 | 12363 | ORPHA:538 | Lymphangioleiomyomatosis | HP:0040283 - Occasional | | | 2738 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | TTC26 CL E G H | 79989 | 21882 | OMIM:619534 | BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS | | | | | | |
HP:0001541 | HP:0001541 | Ascites | 0 | USP18 CL E G H | 11274 | 12616 | OMIM:617397 | Pseudo-Torch syndrome 2 | . | | | 2 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | WDR35 CL E G H | 57539 | 29250 | OMIM:614091 | Short-Rib thoracic dysplasia 7 with or without polydactyly | . | | | 136 | | |
HP:0001541 | HP:0001541 | Ascites | 0 | WT1 CL E G H | 7490 | 12796 | ORPHA:83469 | Desmoplastic small round cell tumor | HP:0040283 - Occasional | | | 177 | | |
HP:0001541 | HP:0025673 | Loculated ascites | 1 | CL E G H | | | | | | | | | | |
HP:0001541 | HP:0012281 | Chylous ascites | 1 | CL E G H | | | | | | | | | | |
HP:0001541 | HP:0031780 | Eosinophilic ascites | 1 | CL E G H | | | | | | | | | | |
HP:0001541 | HP:0001791 | Fetal ascites | 1 | EIF5A CL E G H | 1984 | 3300 | OMIM:619376 | FAUNDES-BANKA SYNDROME; FABAS | | | | | | |
HP:0001541 | HP:0001791 | Fetal ascites | 1 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0001541 | HP:0001791 | Fetal ascites | 1 | HSD17B4 CL E G H | 3295 | 5213 | OMIM:261515 | D-bifunctional protein deficiency | . | | | 98 | | |
HP:0001541 | HP:0001791 | Fetal ascites | 1 | MDFIC CL E G H | 29969 | 28870 | OMIM:620014 | | | | | | | |
HP:0001541 | HP:0001791 | Fetal ascites | 1 | NPC1 CL E G H | 4864 | 7897 | OMIM:257220 | Niemann-pick disease, type C1 | . | | | 258 | | |
HP:0001541 | HP:0001791 | Fetal ascites | 1 | NPC2 CL E G H | 10577 | 14537 | OMIM:607625 | Niemann-pick disease, type C2 | . | | | 33 | | |
HP:0001541 | HP:0001791 | Fetal ascites | 1 | RHD CL E G H | 6007 | 10009 | OMIM:619462 | Hemolytic disease of fetus and newborn, RH-induced | | | | 16 | | |