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:0000952 | HP:0000952 | Jaundice | 0 | ABCB11 CL E G H | 8647 | 42 | OMIM:605479 | Cholestasis, benign recurrent intrahepatic, 2 | . | | | 146 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | ABCB11 CL E G H | 8647 | 42 | OMIM:601847 | Cholestasis, progressive familial intrahepatic 2 | | | | 146 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | ABCB11 CL E G H | 8647 | 42 | ORPHA:69665 | Intrahepatic cholestasis of pregnancy | HP:0040284 - Very rare | | | 146 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | ABCB4 CL E G H | 5244 | 45 | OMIM:614972 | Cholestasis, intrahepatic, of pregnancy 3 | HP:0040283 - Occasional | | | 111 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | ABCB4 CL E G H | 5244 | 45 | OMIM:602347 | Cholestasis, progressive familial intrahepatic, 3 | . | | | 111 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | ABCB4 CL E G H | 5244 | 45 | OMIM:600803 | Gallbladder disease 1 | HP:0040283 - Occasional | | | 111 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | ABCB4 CL E G H | 5244 | 45 | ORPHA:69665 | Intrahepatic cholestasis of pregnancy | HP:0040284 - Very rare | | | 111 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | ABCC2 CL E G H | 1244 | 53 | ORPHA:234 | Dubin-Johnson syndrome | HP:0040281 - Very frequent | | | 119 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | ABCC2 CL E G H | 1244 | 53 | OMIM:237500 | DUBIN-JOHNSON syndrome | . | | | 119 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | ABCD3 CL E G H | 5825 | 67 | OMIM:616278 | BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5 | | | | 5 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | ACADVL CL E G H | 37 | 92 | ORPHA:26793 | Very long chain acyl-CoA dehydrogenase deficiency | HP:0040283 - Occasional | | | 200 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | ADAMTS13 CL E G H | 11093 | 1366 | OMIM:274150 | Thrombotic thrombocytopenic purpura, hereditary | | | | 129 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | ADAR CL E G H | 103 | 225 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 116 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | AKR1D1 CL E G H | 6718 | 388 | OMIM:235555 | Bile acid synthesis defect, congenital, 2 | . | | | 62 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | AKR1D1 CL E G H | 6718 | 388 | ORPHA:79303 | Congenital bile acid synthesis defect type 2 | HP:0040281 - Very frequent | | | 62 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | ALDOA CL E G H | 226 | 414 | OMIM:611881 | Glycogen storage disease XII | . | | | 50 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | ALDOB CL E G H | 229 | 417 | OMIM:229600 | Fructose intolerance, hereditary | . | | | 73 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | ALDOB CL E G H | 229 | 417 | ORPHA:469 | Hereditary fructose intolerance | HP:0040283 - Occasional | | | 73 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | ALG6 CL E G H | 29929 | 23157 | ORPHA:79320 | ALG6-CDG | HP:0040283 - Occasional | | | 66 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | AMACR CL E G H | 23600 | 451 | OMIM:214950 | Bile acid synthesis defect, congenital, 4 | | | | 44 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | ANK1 CL E G H | 286 | 492 | ORPHA:822 | Hereditary spherocytosis | HP:0040282 - Frequent | | | 150 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | ANK1 CL E G H | 286 | 492 | OMIM:182900 | Spherocytosis, type 1 | . | | | 150 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | APC2 CL E G H | 10297 | 24036 | ORPHA:821 | Sotos syndrome | | | | 1 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | ARL13B CL E G H | 200894 | 25419 | OMIM:612291 | JOUBERT SYNDROME 8; JBTS8 | | | | 62 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | ATP11C CL E G H | 286410 | 13554 | OMIM:301015 | Hemolytic anemia, congenital, X-linked | . | | | 1 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | ATP6AP1 CL E G H | 537 | 868 | OMIM:300972 | IMMUNODEFICIENCY 47; IMD47 | | | | 5 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | ATP6AP2 CL E G H | 10159 | 18305 | OMIM:301045 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R | | | | 36 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | ATP7A CL E G H | 538 | 869 | ORPHA:565 | Menkes disease | | | | 192 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | ATP7A CL E G H | 538 | 869 | ORPHA:198 | Occipital horn syndrome | HP:0040282 - Frequent | | | 192 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | ATP7B CL E G H | 540 | 870 | ORPHA:905 | Wilson disease | HP:0040281 - Very frequent | | | 315 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | ATP7B CL E G H | 540 | 870 | OMIM:277900 | Wilson disease | | | | 315 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | ATP8B1 CL E G H | 5205 | 3706 | OMIM:243300 | Cholestasis, benign recurrent intrahepatic 1 | | | | 144 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | ATP8B1 CL E G H | 5205 | 3706 | OMIM:147480 | Cholestasis, intrahepatic, of pregnancy, 1 | . | | | 144 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | ATP8B1 CL E G H | 5205 | 3706 | OMIM:211600 | Cholestasis, progressive familial intrahepatic 1 | | | | 144 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | ATP8B1 CL E G H | 5205 | 3706 | ORPHA:69665 | Intrahepatic cholestasis of pregnancy | HP:0040284 - Very rare | | | 144 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | BAAT CL E G H | 570 | 932 | OMIM:619232 | BILE ACID CONJUGATION DEFECT 1; BACD1 | | | | 63 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | BRCA1 CL E G H | 672 | 1100 | ORPHA:70567 | Cholangiocarcinoma | HP:0040281 - Very frequent | | | 5769 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | BRCA1 CL E G H | 672 | 1100 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040282 - Frequent | | | 5769 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | BRCA2 CL E G H | 675 | 1101 | ORPHA:70567 | Cholangiocarcinoma | HP:0040281 - Very frequent | | | 7642 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | BRCA2 CL E G H | 675 | 1101 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040282 - Frequent | | | 7642 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | CALR CL E G H | 811 | 1455 | ORPHA:131 | Budd-Chiari syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | CASK CL E G H | 8573 | 1497 | OMIM:300908 | Anemia, nonspherocytic hemolytic, due to g6pd deficiency | | | | 118 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | CASR CL E G H | 846 | 1514 | ORPHA:676 | Hereditary chronic pancreatitis | HP:0040283 - Occasional | | | 272 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | CCDC115 CL E G H | 84317 | 28178 | OMIM:616828 | Congenital disorder of glycosylation, type IIO | | | | 3 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | CDAN1 CL E G H | 146059 | 1713 | OMIM:224120 | Anemia, congenital dyserythropoietic, type Ia | | | | 86 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | CDIN1 CL E G H | 84529 | 26929 | OMIM:615631 | Anemia, congenital dyserythropoietic, type Ib | . | | | | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040282 - Frequent | | | 289 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | CFTR CL E G H | 1080 | 1884 | ORPHA:676 | Hereditary chronic pancreatitis | HP:0040283 - Occasional | | | 1371 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | CLDN1 CL E G H | 9076 | 2032 | OMIM:607626 | Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis | . | | | 11 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | CLDN1 CL E G H | 9076 | 2032 | ORPHA:59303 | Neonatal ichthyosis-sclerosing cholangitis syndrome | HP:0040281 - Very frequent | | | 11 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | COG7 CL E G H | 91949 | 18622 | ORPHA:79333 | COG7-CDG | | | | 64 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | COG7 CL E G H | 91949 | 18622 | OMIM:608779 | Congenital disorder of glycosylation, type IIe | . | | | 64 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | COX4I2 CL E G H | 84701 | 16232 | OMIM:612714 | Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis | . | | | 13 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | CPA1 CL E G H | 1357 | 2296 | ORPHA:676 | Hereditary chronic pancreatitis | HP:0040283 - Occasional | | | 5 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | CPOX CL E G H | 1371 | 2321 | OMIM:121300 | Coproporphyria | . | | | 72 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | CPOX CL E G H | 1371 | 2321 | OMIM:618892 | Harderoporphyria | | | | 72 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | CTCF CL E G H | 10664 | 13723 | ORPHA:363611 | CTCF-related neurodevelopmental disorder | | | | 20 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | CTRC CL E G H | 11330 | 2523 | ORPHA:676 | Hereditary chronic pancreatitis | HP:0040283 - Occasional | | | 39 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | CTRC CL E G H | 11330 | 2523 | ORPHA:103918 | Tropical pancreatitis | | | | 39 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | CYP27A1 CL E G H | 1593 | 2605 | ORPHA:909 | Cerebrotendinous xanthomatosis | | | | 114 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | CYP7B1 CL E G H | 9420 | 2652 | OMIM:613812 | Bile acid synthesis defect, congenital, 3 | . | | | 57 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | CYP7B1 CL E G H | 9420 | 2652 | ORPHA:79302 | Congenital bile acid synthesis defect type 3 | HP:0040281 - Very frequent | | | 57 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | DCDC2 CL E G H | 51473 | 18141 | OMIM:617394 | Sclerosing cholangitis, neonatal | . | | | 8 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | DEF6 CL E G H | 50619 | 2760 | OMIM:619573 | IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87 | | | | | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | DGUOK CL E G H | 1716 | 2858 | OMIM:251880 | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | . | | | 57 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | DHFR CL E G H | 1719 | 2861 | OMIM:613839 | Megaloblastic anemia due to dihydrofolate reductase deficiency | . | | | 7 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | DPAGT1 CL E G H | 1798 | 2995 | OMIM:608093 | Congenital disorder of glycosylation, type Ij | HP:0040283 - Occasional | | | 38 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | DUOX2 CL E G H | 50506 | 13273 | ORPHA:95716 | Familial thyroid dyshormonogenesis | | | | 121 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | DUOX2 CL E G H | 50506 | 13273 | ORPHA:226316 | Genetic transient congenital hypothyroidism | | | | 121 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | DUOXA2 CL E G H | 405753 | 32698 | ORPHA:95716 | Familial thyroid dyshormonogenesis | | | | 11 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | DZIP1L CL E G H | 199221 | 26551 | ORPHA:731 | Autosomal recessive polycystic kidney disease | HP:0040283 - Occasional | | | 4 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | EIF2AK3 CL E G H | 9451 | 3255 | ORPHA:1667 | Wolcott-Rallison syndrome | HP:0040283 - Occasional | | | 65 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | EPB41 CL E G H | 2035 | 3377 | OMIM:611804 | Elliptocytosis 1 | . | | | 6 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | EPB41 CL E G H | 2035 | 3377 | ORPHA:288 | Hereditary elliptocytosis | HP:0040283 - Occasional | | | 6 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | EPB42 CL E G H | 2038 | 3381 | ORPHA:822 | Hereditary spherocytosis | HP:0040282 - Frequent | | | 51 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | EPB42 CL E G H | 2038 | 3381 | OMIM:612690 | SPHEROCYTOSIS, TYPE 5; SPH5 | | | | 51 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | ETFA CL E G H | 2108 | 3481 | OMIM:231680 | Multiple acyl-coa dehydrogenase deficiency | . | | | 37 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | ETFB CL E G H | 2109 | 3482 | OMIM:231680 | Multiple acyl-coa dehydrogenase deficiency | . | | | 27 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | ETFDH CL E G H | 2110 | 3483 | OMIM:231680 | Multiple acyl-coa dehydrogenase deficiency | . | | | 77 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | F5 CL E G H | 2153 | 3542 | ORPHA:131 | Budd-Chiari syndrome | HP:0040283 - Occasional | | | 159 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | FCGR3B CL E G H | 2215 | 3620 | ORPHA:464370 | Neonatal alloimmune neutropenia | HP:0040283 - Occasional | | | 5 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | FLI1 CL E G H | 2313 | 3749 | ORPHA:370348 | Peripheral primitive neuroectodermal tumor | HP:0040283 - Occasional | | | 8 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | FOCAD CL E G H | 54914 | 23377 | OMIM:619991 | | | | | 3 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | G6PD CL E G H | 2539 | 4057 | OMIM:300908 | Anemia, nonspherocytic hemolytic, due to g6pd deficiency | | | | 101 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | GALE CL E G H | 2582 | 4116 | OMIM:230350 | Galactose epimerase deficiency | . | | | 52 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | GALK1 CL E G H | 2584 | 4118 | OMIM:230200 | Galactokinase deficiency | | | | 23 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | GALM CL E G H | 130589 | 24063 | OMIM:618881 | GALACTOSEMIA IV; GALAC4 | | | | | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | GALT CL E G H | 2592 | 4135 | ORPHA:79239 | Classic galactosemia | HP:0040282 - Frequent | | | 351 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | GCLC CL E G H | 2729 | 4311 | ORPHA:33574 | Glutamate-cysteine ligase deficiency | HP:0040283 - Occasional | | | 2 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | GH1 CL E G H | 2688 | 4261 | OMIM:262400 | Growth hormone deficiency, isolated, type IA | | | | 50 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | GLRX5 CL E G H | 51218 | 20134 | OMIM:616860 | Anemia, sideroblastic, 3, pyridoxine-refractory | . | | | 17 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | GPI CL E G H | 2821 | 4458 | OMIM:613470 | Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerasedeficiency | . | | | 12 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | GPR35 CL E G H | 2859 | 4492 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040283 - Occasional | | | 2 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | GYPC CL E G H | 2995 | 4704 | ORPHA:288 | Hereditary elliptocytosis | HP:0040283 - Occasional | | | 5 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:231222 | Beta-thalassemia intermedia | HP:0040282 - Frequent | | | 580 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:231214 | Beta-thalassemia major | HP:0040283 - Occasional | | | 580 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:231226 | Dominant beta-thalassemia | HP:0040283 - Occasional | | | 580 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | HBB CL E G H | 3043 | 4827 | OMIM:603903 | Sickle cell anemia | . | | | 580 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | HBG2 CL E G H | 3048 | 4832 | OMIM:613977 | Cyanosis, transient neonatal | HP:0040283 - Occasional | | | 50 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | HESX1 CL E G H | 8820 | 4877 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 21 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | HK1 CL E G H | 3098 | 4922 | OMIM:235700 | Hemolytic anemia, nonspherocytic, due to hexokinase deficiency | . | | | 11 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | HMGCL CL E G H | 3155 | 5005 | ORPHA:20 | 3-hydroxy-3-methylglutaric aciduria | HP:0040283 - Occasional | | | 35 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | HNF1B CL E G H | 6928 | 11630 | ORPHA:93111 | HNF1B-related autosomal dominant tubulointerstitial kidney disease | HP:0040283 - Occasional | | | 90 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | HSD3B7 CL E G H | 80270 | 18324 | OMIM:607765 | Bile acid synthesis defect, congenital, 1 | . | | | 26 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | HSD3B7 CL E G H | 80270 | 18324 | ORPHA:79301 | Congenital bile acid synthesis defect type 1 | HP:0040281 - Very frequent | | | 26 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | HTRA2 CL E G H | 27429 | 14348 | OMIM:617248 | 3-methylglutaconic aciduria, type VIII | | | | 39 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | HYOU1 CL E G H | 10525 | 16931 | OMIM:233600 | Immunodeficiency 59 and hypoglycemia | | | | | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | IER3IP1 CL E G H | 51124 | 18550 | OMIM:614231 | Microcephaly, epilepsy, and diabetes syndrome | . | | | 6 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | IFIH1 CL E G H | 64135 | 18873 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 28 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | IL12A CL E G H | 3592 | 5969 | ORPHA:186 | Primary biliary cholangitis | HP:0040282 - Frequent | | | | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | IL12RB1 CL E G H | 3594 | 5971 | ORPHA:186 | Primary biliary cholangitis | HP:0040282 - Frequent | | | 46 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | IL18BP CL E G H | 10068 | 5987 | OMIM:618549 | HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH | | | | | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | IL2RG CL E G H | 3561 | 6010 | ORPHA:276 | T-B+ severe combined immunodeficiency due to gamma chain deficiency | HP:0040284 - Very rare | | | 48 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | IRF5 CL E G H | 3663 | 6120 | ORPHA:186 | Primary biliary cholangitis | HP:0040282 - Frequent | | | 4 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | IYD CL E G H | 389434 | 21071 | ORPHA:95716 | Familial thyroid dyshormonogenesis | | | | 130 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | JAG1 CL E G H | 182 | 6188 | OMIM:118450 | Alagille syndrome 1 | | | | 257 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | JAK2 CL E G H | 3717 | 6192 | ORPHA:131 | Budd-Chiari syndrome | HP:0040283 - Occasional | | | 57 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | KCNN4 CL E G H | 3783 | 6293 | ORPHA:3202 | Dehydrated hereditary stomatocytosis | | | | 3 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | KCNN4 CL E G H | 3783 | 6293 | OMIM:616689 | Dehydrated hereditary stomatocytosis 2 | . | | | 3 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | KIF12 CL E G H | 113220 | 21495 | OMIM:619662 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC8 | | | | 1 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | KIF23 CL E G H | 9493 | 6392 | OMIM:105600 | Anemia, dyserythropoietic congenital, type III | . | | | 1 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | KMT2E CL E G H | 55904 | 18541 | OMIM:618512 | O'donnell-Luria-Rodan syndrome | | | | 1 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040282 - Frequent | | | 196 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | KRT18 CL E G H | 3875 | 6430 | OMIM:215600 | Cirrhosis, familial | . | | | 19 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | KYNU CL E G H | 8942 | 6469 | OMIM:236800 | HYDROXYKYNURENINURIA | | | | 5 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | LBR CL E G H | 3930 | 6518 | OMIM:613471 | Reynolds syndrome | . | | | 70 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | LBR CL E G H | 3930 | 6518 | ORPHA:779 | Reynolds syndrome | HP:0040283 - Occasional | | | 70 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | LHX3 CL E G H | 8022 | 6595 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 51 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | LHX4 CL E G H | 89884 | 21734 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 43 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | LIPA CL E G H | 3988 | 6617 | ORPHA:75234 | Cholesteryl ester storage disease | HP:0040283 - Occasional | | | 73 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | LPL CL E G H | 4023 | 6677 | OMIM:238600 | Type I hyperlipoproteinemia | . | | | 106 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | LSM11 CL E G H | 134353 | 30860 | ORPHA:51 | Aicardi-Goutières syndrome | | | | | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | LYST CL E G H | 1130 | 1968 | ORPHA:167 | Chédiak-Higashi syndrome | HP:0040283 - Occasional | | | 239 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | LYST CL E G H | 1130 | 1968 | OMIM:214500 | Chediak-Higashi syndrome | . | | | 239 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | MED12 CL E G H | 9968 | 11957 | OMIM:301068 | HARDIKAR SYNDROME; HDKR | | | | 228 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | MMACHC CL E G H | 25974 | 24525 | ORPHA:79282 | Methylmalonic acidemia with homocystinuria, type cblC | HP:0040283 - Occasional | | | 101 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | MMEL1 CL E G H | 79258 | 14668 | ORPHA:186 | Primary biliary cholangitis | HP:0040282 - Frequent | | | | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | MPV17 CL E G H | 4358 | 7224 | OMIM:256810 | Navajo neurohepatopathy | | | | 56 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | MST1 CL E G H | 4485 | 7380 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040283 - Occasional | | | 1 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | MYO5B CL E G H | 4645 | 7603 | OMIM:619868 | | | | | 192 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | NAA10 CL E G H | 8260 | 18704 | OMIM:300855 | Ogden syndrome | | | | 23 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | NBAS CL E G H | 51594 | 15625 | OMIM:616483 | INFANTILE LIVER FAILURE SYNDROME 2; ILFS2 | | | | 25 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | NKX2-5 CL E G H | 1482 | 2488 | ORPHA:95712 | Thyroid ectopia | HP:0040281 - Very frequent | | | 90 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | NPC1 CL E G H | 4864 | 7897 | OMIM:257220 | Niemann-pick disease, type C1 | | | | 258 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | NPC2 CL E G H | 10577 | 14537 | OMIM:607625 | Niemann-pick disease, type C2 | | | | 33 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | NR1H4 CL E G H | 9971 | 7967 | OMIM:617049 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5 | | | | 14 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | NR1H4 CL E G H | 9971 | 7967 | ORPHA:69665 | Intrahepatic cholestasis of pregnancy | HP:0040284 - Very rare | | | 14 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | NSD1 CL E G H | 64324 | 14234 | ORPHA:821 | Sotos syndrome | | | | 544 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | NSD1 CL E G H | 64324 | 14234 | OMIM:117550 | Sotos syndrome 1 | | | | 544 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | OCLN CL E G H | 100506658 | 8104 | OMIM:251290 | Band-Like calcification with simplified gyration and polymicrogyria | . | | | 23 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | PALB2 CL E G H | 79728 | 26144 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040282 - Frequent | | | 1349 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | PALLD CL E G H | 23022 | 17068 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040282 - Frequent | | | 192 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | PARS2 CL E G H | 25973 | 30563 | OMIM:618437 | Epileptic encephalopathy, early infantile, 75 | | | | 14 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | PAX8 CL E G H | 7849 | 8622 | ORPHA:95712 | Thyroid ectopia | HP:0040281 - Very frequent | | | 63 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | PAX8 CL E G H | 7849 | 8622 | ORPHA:95720 | Thyroid hypoplasia | HP:0040281 - Very frequent | | | 63 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | PEPD CL E G H | 5184 | 8840 | OMIM:170100 | Prolidase deficiency | | | | 66 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | PEX1 CL E G H | 5189 | 8850 | OMIM:214100 | Peroxisome biogenesis disorder 1A (Zellweger) | | | | 169 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | PEX1 CL E G H | 5189 | 8850 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 169 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | PEX10 CL E G H | 5192 | 8851 | OMIM:614871 | Peroxisome biogenesis disorder 6B | | | | 75 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | PEX10 CL E G H | 5192 | 8851 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 75 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | PEX11B CL E G H | 8799 | 8853 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | PEX12 CL E G H | 5193 | 8854 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 65 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | PEX13 CL E G H | 5194 | 8855 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 66 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | PEX14 CL E G H | 5195 | 8856 | OMIM:614887 | Peroxisome biogenesis disorder 13A (Zellweger) | . | | | 46 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | PEX14 CL E G H | 5195 | 8856 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 46 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | PEX16 CL E G H | 9409 | 8857 | OMIM:614876 | Peroxisome biogenesis disorder 8A (Zellweger) | . | | | 59 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | PEX16 CL E G H | 9409 | 8857 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 59 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | PEX19 CL E G H | 5824 | 9713 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 62 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | PEX2 CL E G H | 5828 | 9717 | OMIM:614866 | Peroxisome biogenesis disorder 5A (Zellweger) | . | | | 82 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | PEX2 CL E G H | 5828 | 9717 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 82 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | PEX26 CL E G H | 55670 | 22965 | OMIM:614872 | Peroxisome biogenesis disorder 7A (zellweger) | . | | | 106 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | PEX26 CL E G H | 55670 | 22965 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 106 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | PEX3 CL E G H | 8504 | 8858 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 47 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | PEX5 CL E G H | 5830 | 9719 | OMIM:214110 | Peroxisome biogenesis disorder 2A (Zellweger) | . | | | 99 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | PEX5 CL E G H | 5830 | 9719 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 99 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | PEX6 CL E G H | 5190 | 8859 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 98 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | PFKM CL E G H | 5213 | 8877 | OMIM:232800 | Glycogen storage disease VII | . | | | 64 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | PIEZO1 CL E G H | 9780 | 28993 | ORPHA:3202 | Dehydrated hereditary stomatocytosis | | | | 36 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | PIEZO1 CL E G H | 9780 | 28993 | OMIM:194380 | Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema | HP:0040283 - Occasional | | | 36 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | PIGA CL E G H | 5277 | 8957 | ORPHA:447 | Paroxysmal nocturnal hemoglobinuria | HP:0040283 - Occasional | | | 46 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | PKD2 CL E G H | 5311 | 9009 | OMIM:613095 | Polycystic kidney disease 2 | | | | 106 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | PKHD1 CL E G H | 5314 | 9016 | ORPHA:731 | Autosomal recessive polycystic kidney disease | HP:0040283 - Occasional | | | 563 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | PKHD1 CL E G H | 5314 | 9016 | ORPHA:53035 | Caroli disease | HP:0040282 - Frequent | | | 563 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | PKLR CL E G H | 5313 | 9020 | ORPHA:766 | Hemolytic anemia due to red cell pyruvate kinase deficiency | | | | 51 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | PKLR CL E G H | 5313 | 9020 | OMIM:266200 | Pyruvate kinase deficiency of red cells | . | | | 51 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | POLG2 CL E G H | 11232 | 9180 | OMIM:618528 | Mitochondrial DNA depletion syndrome 16 (hepatic type) | . | | | 45 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 36 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | POU1F1 CL E G H | 5449 | 9210 | OMIM:613038 | Pituitary hormone deficiency, combined, 1 | . | | | 36 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | POU2AF1 CL E G H | 5450 | 9211 | ORPHA:186 | Primary biliary cholangitis | HP:0040282 - Frequent | | | | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | PRF1 CL E G H | 5551 | 9360 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040283 - Occasional | | | 58 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | PRF1 CL E G H | 5551 | 9360 | OMIM:603553 | Hemophagocytic lymphohistiocytosis, familial, 2 | | | | 58 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:615 | Familial atrial myxoma | HP:0040283 - Occasional | | | 134 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | PROP1 CL E G H | 5626 | 9455 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 54 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | PRPS1 CL E G H | 5631 | 9462 | ORPHA:423479 | X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome | | | | 49 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | PRSS1 CL E G H | 5644 | 9475 | ORPHA:676 | Hereditary chronic pancreatitis | HP:0040283 - Occasional | | | 51 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | PRSS2 CL E G H | 5645 | 9483 | ORPHA:676 | Hereditary chronic pancreatitis | HP:0040283 - Occasional | | | 1 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | PTPN3 CL E G H | 5774 | 9655 | ORPHA:70567 | Cholangiocarcinoma | HP:0040281 - Very frequent | | | 1 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | RAB27A CL E G H | 5873 | 9766 | ORPHA:79477 | Griscelli syndrome type 2 | HP:0040282 - Frequent | | | 67 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | RABL3 CL E G H | 285282 | 18072 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040282 - Frequent | | | | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | RHAG CL E G H | 6005 | 10006 | OMIM:268150 | Anemia, hemolytic, Rh-null, Regulator type | . | | | 13 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | RHAG CL E G H | 6005 | 10006 | ORPHA:3203 | Overhydrated hereditary stomatocytosis | | | | 13 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | RHAG CL E G H | 6005 | 10006 | OMIM:185000 | Overhydrated hereditary stomatocytosis | . | | | 13 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | RHAG CL E G H | 6005 | 10006 | ORPHA:71275 | Rh deficiency syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | RHCE CL E G H | 6006 | 10008 | ORPHA:71275 | Rh deficiency syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | RHD CL E G H | 6007 | 10009 | ORPHA:71275 | Rh deficiency syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | RINT1 CL E G H | 60561 | 21876 | OMIM:618641 | INFANTILE LIVER FAILURE SYNDROME 3; ILFS3 | | | | 99 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | RNASEH2A CL E G H | 10535 | 18518 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 33 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | RNASEH2B CL E G H | 79621 | 25671 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 34 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | RNASEH2C CL E G H | 84153 | 24116 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 60 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:210710 | Microcephalic osteodysplastic primordial dwarfism, type I | | | | 15 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | RNU7-1 CL E G H | 100147744 | 34033 | ORPHA:51 | Aicardi-Goutières syndrome | | | | | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | SAMHD1 CL E G H | 25939 | 15925 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 55 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | SEC23B CL E G H | 10483 | 10702 | OMIM:224100 | Anemia, dyserythropoietic congenital, type II | . | | | 60 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | SEMA4D CL E G H | 10507 | 10732 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040283 - Occasional | | | | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | SERPINA1 CL E G H | 5265 | 8941 | ORPHA:60 | Alpha-1-antitrypsin deficiency | HP:0040282 - Frequent | | | 131 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | SETD2 CL E G H | 29072 | 18420 | ORPHA:821 | Sotos syndrome | | | | 60 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | SKIC3 CL E G H | 9652 | 23639 | OMIM:222470 | Trichohepatoenteric syndrome 1 | . | | | | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | SLC10A1 CL E G H | 6554 | 10905 | OMIM:619256 | HYPERCHOLANEMIA, FAMILIAL, 2; FHCA2 | | | | | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | SLC16A2 CL E G H | 6567 | 10923 | ORPHA:59 | Allan-Herndon-Dudley syndrome | | | | 57 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | SLC25A13 CL E G H | 10165 | 10983 | ORPHA:247598 | Neonatal intrahepatic cholestasis due to citrin deficiency | HP:0040281 - Very frequent | | | 82 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | SLC26A4 CL E G H | 5172 | 8818 | ORPHA:95720 | Thyroid hypoplasia | HP:0040281 - Very frequent | | | 274 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | SLC2A1 CL E G H | 6513 | 11005 | ORPHA:168577 | Hereditary cryohydrocytosis with reduced stomatin | HP:0040282 - Frequent | | | 255 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | SLC2A1 CL E G H | 6513 | 11005 | OMIM:608885 | Stomatin-Deficient cryohydrocytosis with neurologic defects | . | | | 255 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | SLC30A10 CL E G H | 55532 | 25355 | ORPHA:309854 | Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome | HP:0040283 - Occasional | | | 42 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:619525 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W | | | | 110 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | SLC44A1 CL E G H | 23446 | 18798 | OMIM:618868 | NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC | | | | 1 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | SLC4A1 CL E G H | 6521 | 11027 | ORPHA:3202 | Dehydrated hereditary stomatocytosis | | | | 109 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | SLC4A1 CL E G H | 6521 | 11027 | ORPHA:822 | Hereditary spherocytosis | HP:0040282 - Frequent | | | 109 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | SLC4A1 CL E G H | 6521 | 11027 | OMIM:612653 | Spherocytosis, type 4 | . | | | 109 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | SLC51B CL E G H | 123264 | 29956 | OMIM:619481 | BILE ACID MALABSORPTION, PRIMARY, 2; PBAM2 | | | | | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | SLC5A5 CL E G H | 6528 | 11040 | ORPHA:95716 | Familial thyroid dyshormonogenesis | | | | 59 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | SLCO1B1 CL E G H | 10599 | 10959 | OMIM:237450 | Hyperbilirubinemia, Rotor type, digenic | . | | | 52 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | SLCO1B1 CL E G H | 10599 | 10959 | ORPHA:3111 | Rotor syndrome | HP:0040281 - Very frequent | | | 52 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | SLCO1B3 CL E G H | 28234 | 10961 | OMIM:237450 | Hyperbilirubinemia, Rotor type, digenic | . | | | 60 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | SLCO1B3 CL E G H | 28234 | 10961 | ORPHA:3111 | Rotor syndrome | HP:0040281 - Very frequent | | | 60 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040282 - Frequent | | | 504 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | SMPD1 CL E G H | 6609 | 11120 | OMIM:257200 | Niemann-Pick disease, type A | | | | 164 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | SP110 CL E G H | 3431 | 5401 | ORPHA:79124 | Hepatic veno-occlusive disease-immunodeficiency syndrome | HP:0040283 - Occasional | | | 49 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | SPIB CL E G H | 6689 | 11242 | ORPHA:186 | Primary biliary cholangitis | HP:0040282 - Frequent | | | | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | SPINK1 CL E G H | 6690 | 11244 | ORPHA:676 | Hereditary chronic pancreatitis | HP:0040283 - Occasional | | | 34 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | SPINK1 CL E G H | 6690 | 11244 | ORPHA:103918 | Tropical pancreatitis | | | | 34 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | SPOP CL E G H | 8405 | 11254 | OMIM:618828 | NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1 | | | | 16 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | SPTA1 CL E G H | 6708 | 11272 | ORPHA:288 | Hereditary elliptocytosis | HP:0040283 - Occasional | | | 228 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | SPTA1 CL E G H | 6708 | 11272 | ORPHA:822 | Hereditary spherocytosis | HP:0040282 - Frequent | | | 228 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | SPTB CL E G H | 6710 | 11274 | OMIM:617948 | ELLIPTOCYTOSIS 3; EL3 | | | | 156 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | SPTB CL E G H | 6710 | 11274 | ORPHA:288 | Hereditary elliptocytosis | HP:0040283 - Occasional | | | 156 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | SPTB CL E G H | 6710 | 11274 | ORPHA:822 | Hereditary spherocytosis | HP:0040282 - Frequent | | | 156 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | SPTB CL E G H | 6710 | 11274 | OMIM:616649 | SPHEROCYTOSIS, TYPE 2; SPH2 | | | | 156 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | STX11 CL E G H | 8676 | 11429 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040283 - Occasional | | | 85 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | STX11 CL E G H | 8676 | 11429 | OMIM:603552 | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4 | | | | 85 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | STXBP2 CL E G H | 6813 | 11445 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040283 - Occasional | | | 70 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | TBX19 CL E G H | 9095 | 11596 | OMIM:201400 | Acth deficiency, isolated | . | | | 57 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | TBX19 CL E G H | 9095 | 11596 | ORPHA:199296 | Congenital isolated ACTH deficiency | | | | 57 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | TCF4 CL E G H | 6925 | 11634 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040283 - Occasional | | | 241 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | TFAM CL E G H | 7019 | 11741 | OMIM:617156 | Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) | . | | | 1 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | TG CL E G H | 7038 | 11764 | ORPHA:95716 | Familial thyroid dyshormonogenesis | | | | 155 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | TNFSF15 CL E G H | 9966 | 11931 | ORPHA:186 | Primary biliary cholangitis | HP:0040282 - Frequent | | | | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | TNPO3 CL E G H | 23534 | 17103 | ORPHA:186 | Primary biliary cholangitis | HP:0040282 - Frequent | | | 71 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040282 - Frequent | | | 911 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | TPI1 CL E G H | 7167 | 12009 | OMIM:615512 | Triosephosphate isomerase deficiency | . | | | 28 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | TPO CL E G H | 7173 | 12015 | ORPHA:95716 | Familial thyroid dyshormonogenesis | | | | 92 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | TREX1 CL E G H | 11277 | 12269 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 56 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | TREX1 CL E G H | 11277 | 12269 | OMIM:225750 | Aicardi-Goutieres syndrome 1 | | | | 56 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | TRHR CL E G H | 7201 | 12299 | ORPHA:99832 | Resistance to thyrotropin-releasing hormone syndrome | | | | 2 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | TRMU CL E G H | 55687 | 25481 | OMIM:613070 | Liver failure, infantile, transient | . | | | 101 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | TSHB CL E G H | 7252 | 12372 | ORPHA:90674 | Isolated thyroid-stimulating hormone deficiency | | | | 9 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | TSHR CL E G H | 7253 | 12373 | ORPHA:90673 | Hypothyroidism due to TSH receptor mutations | | | | 97 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | TSHR CL E G H | 7253 | 12373 | ORPHA:95720 | Thyroid hypoplasia | HP:0040281 - Very frequent | | | 97 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | TTC26 CL E G H | 79989 | 21882 | OMIM:619534 | BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS | | | | | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | TULP3 CL E G H | 7289 | 12425 | OMIM:619902 | | | | | | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | UGT1A1 CL E G H | 54658 | 12530 | ORPHA:79234 | Crigler-Najjar syndrome type 1 | | | | 73 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | UGT1A1 CL E G H | 54658 | 12530 | ORPHA:79235 | Crigler-Najjar syndrome type 2 | | | | 73 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | UGT1A1 CL E G H | 54658 | 12530 | OMIM:218800 | Crigler-Najjar syndrome, type I | | | | 73 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | UGT1A1 CL E G H | 54658 | 12530 | OMIM:606785 | Crigler-najjar syndrome, type II | . | | | 73 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | UGT1A1 CL E G H | 54658 | 12530 | OMIM:237900 | Hyperbilirubinemia, familial transient neonatal | . | | | 73 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | UNC13D CL E G H | 201294 | 23147 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040283 - Occasional | | | 116 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | UNC45A CL E G H | 55898 | 30594 | OMIM:619377 | OSTEOOTOHEPATOENTERIC SYNDROME; OOHE | | | | | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | USP53 CL E G H | 54532 | 29255 | OMIM:619658 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 7, WITH OR WITHOUT HEARING LOSS; PFIC7 | | | | | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | VIPAS39 CL E G H | 63894 | 20347 | OMIM:613404 | Arthrogryposis, renal dysfunction, and cholestasis 2 | . | | | 27 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | VPS33B CL E G H | 26276 | 12712 | OMIM:620010 | | | | | 63 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | VPS33B CL E G H | 26276 | 12712 | OMIM:208085 | Arthrogryposis, renal dysfunction, and cholestasis 1 | . | | | 63 | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | YARS1 CL E G H | 8565 | 12840 | OMIM:619418 | NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2 | | | | | | |
HP:0000952 | HP:0000952 | Jaundice | 0 | ZFYVE19 CL E G H | 84936 | 20758 | OMIM:619849 | | | | | | | |
HP:0000952 | HP:0001046 | Intermittent jaundice | 1 | ABCB11 CL E G H | 8647 | 42 | OMIM:601847 | Cholestasis, progressive familial intrahepatic 2 | . | | | 146 | | |
HP:0000952 | HP:0006579 | Prolonged neonatal jaundice | 1 | ADAMTS13 CL E G H | 11093 | 1366 | OMIM:274150 | Thrombotic thrombocytopenic purpura, hereditary | . | | | 129 | | |
HP:0000952 | HP:0006579 | Prolonged neonatal jaundice | 1 | ADAR CL E G H | 103 | 225 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 116 | | |
HP:0000952 | HP:0006579 | Prolonged neonatal jaundice | 1 | AKR1D1 CL E G H | 6718 | 388 | ORPHA:79303 | Congenital bile acid synthesis defect type 2 | | | | 62 | | |
HP:0000952 | HP:0006579 | Prolonged neonatal jaundice | 1 | AMACR CL E G H | 23600 | 451 | OMIM:214950 | Bile acid synthesis defect, congenital, 4 | . | | | 44 | | |
HP:0000952 | HP:0006579 | Prolonged neonatal jaundice | 1 | APC2 CL E G H | 10297 | 24036 | ORPHA:821 | Sotos syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000952 | HP:0006579 | Prolonged neonatal jaundice | 1 | ARL13B CL E G H | 200894 | 25419 | OMIM:612291 | JOUBERT SYNDROME 8; JBTS8 | | | | 62 | | |
HP:0000952 | HP:0006579 | Prolonged neonatal jaundice | 1 | ATP6AP1 CL E G H | 537 | 868 | OMIM:300972 | IMMUNODEFICIENCY 47; IMD47 | | | | 5 | | |
HP:0000952 | HP:0006579 | Prolonged neonatal jaundice | 1 | ATP7A CL E G H | 538 | 869 | ORPHA:565 | Menkes disease | HP:0040282 - Frequent | | | 192 | | |
HP:0000952 | HP:0001046 | Intermittent jaundice | 1 | ATP8B1 CL E G H | 5205 | 3706 | OMIM:243300 | Cholestasis, benign recurrent intrahepatic 1 | . | | | 144 | | |
HP:0000952 | HP:0006579 | Prolonged neonatal jaundice | 1 | CASK CL E G H | 8573 | 1497 | OMIM:300908 | Anemia, nonspherocytic hemolytic, due to g6pd deficiency | | | | 118 | | |
HP:0000952 | HP:0006579 | Prolonged neonatal jaundice | 1 | CCDC115 CL E G H | 84317 | 28178 | OMIM:616828 | Congenital disorder of glycosylation, type IIO | . | | | 3 | | |
HP:0000952 | HP:0006579 | Prolonged neonatal jaundice | 1 | CDAN1 CL E G H | 146059 | 1713 | OMIM:224120 | Anemia, congenital dyserythropoietic, type Ia | . | | | 86 | | |
HP:0000952 | HP:0006579 | Prolonged neonatal jaundice | 1 | CPOX CL E G H | 1371 | 2321 | OMIM:618892 | Harderoporphyria | . | | | 72 | | |
HP:0000952 | HP:0006579 | Prolonged neonatal jaundice | 1 | CTCF CL E G H | 10664 | 13723 | ORPHA:363611 | CTCF-related neurodevelopmental disorder | HP:0040283 - Occasional | | | 20 | | |
HP:0000952 | HP:0006579 | Prolonged neonatal jaundice | 1 | CYP27A1 CL E G H | 1593 | 2605 | ORPHA:909 | Cerebrotendinous xanthomatosis | HP:0040283 - Occasional | | | 114 | | |
HP:0000952 | HP:0006579 | Prolonged neonatal jaundice | 1 | DUOX2 CL E G H | 50506 | 13273 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040282 - Frequent | | | 121 | | |
HP:0000952 | HP:0006579 | Prolonged neonatal jaundice | 1 | DUOX2 CL E G H | 50506 | 13273 | ORPHA:226316 | Genetic transient congenital hypothyroidism | HP:0040283 - Occasional | | | 121 | | |
HP:0000952 | HP:0006579 | Prolonged neonatal jaundice | 1 | DUOXA2 CL E G H | 405753 | 32698 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040282 - Frequent | | | 11 | | |
HP:0000952 | HP:0006579 | Prolonged neonatal jaundice | 1 | EPB41 CL E G H | 2035 | 3377 | ORPHA:288 | Hereditary elliptocytosis | HP:0040283 - Occasional | | | 6 | | |
HP:0000952 | HP:0006579 | Prolonged neonatal jaundice | 1 | G6PD CL E G H | 2539 | 4057 | OMIM:300908 | Anemia, nonspherocytic hemolytic, due to g6pd deficiency | | | | 101 | | |
HP:0000952 | HP:0006579 | Prolonged neonatal jaundice | 1 | GALK1 CL E G H | 2584 | 4118 | OMIM:230200 | Galactokinase deficiency | . | | | 23 | | |
HP:0000952 | HP:0006579 | Prolonged neonatal jaundice | 1 | GALM CL E G H | 130589 | 24063 | OMIM:618881 | GALACTOSEMIA IV; GALAC4 | | | | | | |
HP:0000952 | HP:0006579 | Prolonged neonatal jaundice | 1 | GH1 CL E G H | 2688 | 4261 | OMIM:262400 | Growth hormone deficiency, isolated, type IA | | | | 50 | | |
HP:0000952 | HP:0006579 | Prolonged neonatal jaundice | 1 | GYPC CL E G H | 2995 | 4704 | ORPHA:288 | Hereditary elliptocytosis | HP:0040283 - Occasional | | | 5 | | |
HP:0000952 | HP:0006579 | Prolonged neonatal jaundice | 1 | HESX1 CL E G H | 8820 | 4877 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040282 - Frequent | | | 21 | | |
HP:0000952 | HP:0006579 | Prolonged neonatal jaundice | 1 | HYOU1 CL E G H | 10525 | 16931 | OMIM:233600 | Immunodeficiency 59 and hypoglycemia | | | | | | |
HP:0000952 | HP:0006579 | Prolonged neonatal jaundice | 1 | IFIH1 CL E G H | 64135 | 18873 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 28 | | |
HP:0000952 | HP:0006579 | Prolonged neonatal jaundice | 1 | IYD CL E G H | 389434 | 21071 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040282 - Frequent | | | 130 | | |
HP:0000952 | HP:0006579 | Prolonged neonatal jaundice | 1 | JAG1 CL E G H | 182 | 6188 | OMIM:118450 | Alagille syndrome 1 | . | | | 257 | | |
HP:0000952 | HP:0001046 | Intermittent jaundice | 1 | KCNN4 CL E G H | 3783 | 6293 | ORPHA:3202 | Dehydrated hereditary stomatocytosis | HP:0040283 - Occasional | | | 3 | | |
HP:0000952 | HP:0006579 | Prolonged neonatal jaundice | 1 | KMT2E CL E G H | 55904 | 18541 | OMIM:618512 | O'donnell-Luria-Rodan syndrome | . | | | 1 | | |
HP:0000952 | HP:0006579 | Prolonged neonatal jaundice | 1 | LHX3 CL E G H | 8022 | 6595 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040282 - Frequent | | | 51 | | |
HP:0000952 | HP:0006579 | Prolonged neonatal jaundice | 1 | LHX4 CL E G H | 89884 | 21734 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040282 - Frequent | | | 43 | | |
HP:0000952 | HP:0006579 | Prolonged neonatal jaundice | 1 | LSM11 CL E G H | 134353 | 30860 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | | | |
HP:0000952 | HP:0006579 | Prolonged neonatal jaundice | 1 | MED12 CL E G H | 9968 | 11957 | OMIM:301068 | HARDIKAR SYNDROME; HDKR | | | | 228 | | |
HP:0000952 | HP:0006579 | Prolonged neonatal jaundice | 1 | MPV17 CL E G H | 4358 | 7224 | OMIM:256810 | Navajo neurohepatopathy | . | | | 56 | | |
HP:0000952 | HP:0006579 | Prolonged neonatal jaundice | 1 | NPC1 CL E G H | 4864 | 7897 | OMIM:257220 | Niemann-pick disease, type C1 | . | | | 258 | | |
HP:0000952 | HP:0006579 | Prolonged neonatal jaundice | 1 | NPC2 CL E G H | 10577 | 14537 | OMIM:607625 | Niemann-pick disease, type C2 | . | | | 33 | | |
HP:0000952 | HP:0006579 | Prolonged neonatal jaundice | 1 | NSD1 CL E G H | 64324 | 14234 | ORPHA:821 | Sotos syndrome | HP:0040282 - Frequent | | | 544 | | |
HP:0000952 | HP:0006579 | Prolonged neonatal jaundice | 1 | NSD1 CL E G H | 64324 | 14234 | OMIM:117550 | Sotos syndrome 1 | | | | 544 | | |
HP:0000952 | HP:0006579 | Prolonged neonatal jaundice | 1 | PARS2 CL E G H | 25973 | 30563 | OMIM:618437 | Epileptic encephalopathy, early infantile, 75 | | | | 14 | | |
HP:0000952 | HP:0006579 | Prolonged neonatal jaundice | 1 | PEPD CL E G H | 5184 | 8840 | OMIM:170100 | Prolidase deficiency | | | | 66 | | |
HP:0000952 | HP:0006579 | Prolonged neonatal jaundice | 1 | PEX1 CL E G H | 5189 | 8850 | OMIM:214100 | Peroxisome biogenesis disorder 1A (Zellweger) | . | | | 169 | | |
HP:0000952 | HP:0006579 | Prolonged neonatal jaundice | 1 | PEX10 CL E G H | 5192 | 8851 | OMIM:614871 | Peroxisome biogenesis disorder 6B | | | | 75 | | |
HP:0000952 | HP:0001046 | Intermittent jaundice | 1 | PIEZO1 CL E G H | 9780 | 28993 | ORPHA:3202 | Dehydrated hereditary stomatocytosis | HP:0040283 - Occasional | | | 36 | | |
HP:0000952 | HP:0006579 | Prolonged neonatal jaundice | 1 | PKLR CL E G H | 5313 | 9020 | ORPHA:766 | Hemolytic anemia due to red cell pyruvate kinase deficiency | HP:0040282 - Frequent | | | 51 | | |
HP:0000952 | HP:0006579 | Prolonged neonatal jaundice | 1 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040282 - Frequent | | | 36 | | |
HP:0000952 | HP:0006579 | Prolonged neonatal jaundice | 1 | POU1F1 CL E G H | 5449 | 9210 | OMIM:613038 | Pituitary hormone deficiency, combined, 1 | . | | | 36 | | |
HP:0000952 | HP:0006579 | Prolonged neonatal jaundice | 1 | PROP1 CL E G H | 5626 | 9455 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040282 - Frequent | | | 54 | | |
HP:0000952 | HP:0006579 | Prolonged neonatal jaundice | 1 | PRPS1 CL E G H | 5631 | 9462 | ORPHA:423479 | X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome | HP:0040283 - Occasional | | | 49 | | |
HP:0000952 | HP:0001046 | Intermittent jaundice | 1 | RHAG CL E G H | 6005 | 10006 | ORPHA:3203 | Overhydrated hereditary stomatocytosis | HP:0040283 - Occasional | | | 13 | | |
HP:0000952 | HP:0006579 | Prolonged neonatal jaundice | 1 | RNASEH2A CL E G H | 10535 | 18518 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 33 | | |
HP:0000952 | HP:0006579 | Prolonged neonatal jaundice | 1 | RNASEH2B CL E G H | 79621 | 25671 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 34 | | |
HP:0000952 | HP:0006579 | Prolonged neonatal jaundice | 1 | RNASEH2C CL E G H | 84153 | 24116 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 60 | | |
HP:0000952 | HP:0006579 | Prolonged neonatal jaundice | 1 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:210710 | Microcephalic osteodysplastic primordial dwarfism, type I | . | | | 15 | | |
HP:0000952 | HP:0006579 | Prolonged neonatal jaundice | 1 | RNU7-1 CL E G H | 100147744 | 34033 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | | | |
HP:0000952 | HP:0006579 | Prolonged neonatal jaundice | 1 | SAMHD1 CL E G H | 25939 | 15925 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 55 | | |
HP:0000952 | HP:0006579 | Prolonged neonatal jaundice | 1 | SETD2 CL E G H | 29072 | 18420 | ORPHA:821 | Sotos syndrome | HP:0040282 - Frequent | | | 60 | | |
HP:0000952 | HP:0006579 | Prolonged neonatal jaundice | 1 | SLC10A1 CL E G H | 6554 | 10905 | OMIM:619256 | HYPERCHOLANEMIA, FAMILIAL, 2; FHCA2 | | | | | | |
HP:0000952 | HP:0006579 | Prolonged neonatal jaundice | 1 | SLC16A2 CL E G H | 6567 | 10923 | ORPHA:59 | Allan-Herndon-Dudley syndrome | HP:0040283 - Occasional | | | 57 | | |
HP:0000952 | HP:0006579 | Prolonged neonatal jaundice | 1 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:619525 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W | | | | 110 | | |
HP:0000952 | HP:0006579 | Prolonged neonatal jaundice | 1 | SLC44A1 CL E G H | 23446 | 18798 | OMIM:618868 | NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC | | | | 1 | | |
HP:0000952 | HP:0001046 | Intermittent jaundice | 1 | SLC4A1 CL E G H | 6521 | 11027 | ORPHA:3202 | Dehydrated hereditary stomatocytosis | HP:0040283 - Occasional | | | 109 | | |
HP:0000952 | HP:0006579 | Prolonged neonatal jaundice | 1 | SLC51B CL E G H | 123264 | 29956 | OMIM:619481 | BILE ACID MALABSORPTION, PRIMARY, 2; PBAM2 | | | | | | |
HP:0000952 | HP:0006579 | Prolonged neonatal jaundice | 1 | SLC5A5 CL E G H | 6528 | 11040 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040282 - Frequent | | | 59 | | |
HP:0000952 | HP:0001046 | Intermittent jaundice | 1 | SLCO1B1 CL E G H | 10599 | 10959 | ORPHA:3111 | Rotor syndrome | HP:0040283 - Occasional | | | 52 | | |
HP:0000952 | HP:0001046 | Intermittent jaundice | 1 | SLCO1B3 CL E G H | 28234 | 10961 | ORPHA:3111 | Rotor syndrome | HP:0040283 - Occasional | | | 60 | | |
HP:0000952 | HP:0006579 | Prolonged neonatal jaundice | 1 | SMPD1 CL E G H | 6609 | 11120 | OMIM:257200 | Niemann-Pick disease, type A | | | | 164 | | |
HP:0000952 | HP:0006579 | Prolonged neonatal jaundice | 1 | SPOP CL E G H | 8405 | 11254 | OMIM:618828 | NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1 | | | | 16 | | |
HP:0000952 | HP:0006579 | Prolonged neonatal jaundice | 1 | SPTA1 CL E G H | 6708 | 11272 | ORPHA:288 | Hereditary elliptocytosis | HP:0040283 - Occasional | | | 228 | | |
HP:0000952 | HP:0001046 | Intermittent jaundice | 1 | SPTB CL E G H | 6710 | 11274 | OMIM:617948 | ELLIPTOCYTOSIS 3; EL3 | | | | 156 | | |
HP:0000952 | HP:0006579 | Prolonged neonatal jaundice | 1 | SPTB CL E G H | 6710 | 11274 | ORPHA:288 | Hereditary elliptocytosis | HP:0040283 - Occasional | | | 156 | | |
HP:0000952 | HP:0006579 | Prolonged neonatal jaundice | 1 | TBX19 CL E G H | 9095 | 11596 | ORPHA:199296 | Congenital isolated ACTH deficiency | HP:0040282 - Frequent | | | 57 | | |
HP:0000952 | HP:0006579 | Prolonged neonatal jaundice | 1 | TG CL E G H | 7038 | 11764 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040282 - Frequent | | | 155 | | |
HP:0000952 | HP:0006579 | Prolonged neonatal jaundice | 1 | TPI1 CL E G H | 7167 | 12009 | OMIM:615512 | Triosephosphate isomerase deficiency | | | | 28 | | |
HP:0000952 | HP:0006579 | Prolonged neonatal jaundice | 1 | TPO CL E G H | 7173 | 12015 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040282 - Frequent | | | 92 | | |
HP:0000952 | HP:0006579 | Prolonged neonatal jaundice | 1 | TREX1 CL E G H | 11277 | 12269 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 56 | | |
HP:0000952 | HP:0006579 | Prolonged neonatal jaundice | 1 | TREX1 CL E G H | 11277 | 12269 | OMIM:225750 | Aicardi-Goutieres syndrome 1 | . | | | 56 | | |
HP:0000952 | HP:0006579 | Prolonged neonatal jaundice | 1 | TRHR CL E G H | 7201 | 12299 | ORPHA:99832 | Resistance to thyrotropin-releasing hormone syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0000952 | HP:0006579 | Prolonged neonatal jaundice | 1 | TSHB CL E G H | 7252 | 12372 | ORPHA:90674 | Isolated thyroid-stimulating hormone deficiency | HP:0040282 - Frequent | | | 9 | | |
HP:0000952 | HP:0006579 | Prolonged neonatal jaundice | 1 | TSHR CL E G H | 7253 | 12373 | ORPHA:90673 | Hypothyroidism due to TSH receptor mutations | HP:0040282 - Frequent | | | 97 | | |
HP:0000952 | HP:0006579 | Prolonged neonatal jaundice | 1 | TTC26 CL E G H | 79989 | 21882 | OMIM:619534 | BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS | | | | | | |
HP:0000952 | HP:0006579 | Prolonged neonatal jaundice | 1 | UGT1A1 CL E G H | 54658 | 12530 | ORPHA:79234 | Crigler-Najjar syndrome type 1 | HP:0040281 - Very frequent | | | 73 | | |
HP:0000952 | HP:0006579 | Prolonged neonatal jaundice | 1 | UGT1A1 CL E G H | 54658 | 12530 | ORPHA:79235 | Crigler-Najjar syndrome type 2 | HP:0040281 - Very frequent | | | 73 | | |
HP:0000952 | HP:0006579 | Prolonged neonatal jaundice | 1 | UNC45A CL E G H | 55898 | 30594 | OMIM:619377 | OSTEOOTOHEPATOENTERIC SYNDROME; OOHE | | | | | | |
HP:0000952 | HP:0006579 | Prolonged neonatal jaundice | 1 | YARS1 CL E G H | 8565 | 12840 | OMIM:619418 | NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2 | | | | | | |