Gene: Pkhd1 MGI:2155808

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

polycystic kidney and hepatic disease 1

Synonyms:

FPC, tigmin

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Pkhd1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Pkhd1 (3 diseases)
Human diseases predicted to be associated with Pkhd1 (1267 diseases)

The table below shows human diseases associated to Pkhd1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Pancreatic cysts, Esophageal varix, Hepatic cysts, Tubulointerstitial fibrosis, Ren...	OMIM:263200
Autosomal Recessive Polycystic Kidney Disease	Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Splenomegaly, Biliary...	ORPHA:731
Caroli Disease	Cholangitis, Hepatomegaly, Cholangiocarcinoma, Hepatic fibrosis, Cholelithiasis, Splenomegaly, Li...	ORPHA:53035

The table below shows human diseases predicted to be associated to Pkhd1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Polycystic Liver Disease 4 With Or Without Kidney Cysts	Hepatic cysts, Renal cyst	OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts	Hepatic cysts, Renal cyst	OMIM:617874
Nephronophthisis 19	Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Nephronophthisis, Stage 5 chronic kidney...	OMIM:616217
RCAD (renal cysts and diabetes)	Abnormality of the liver, Multiple renal cysts	DECIPHER:47
Polycystic Liver Disease 2 With Or Without Kidney Cysts	Hepatomegaly, Hepatic cysts	OMIM:617004
Cholangiocarcinoma, Susceptibility To	Cholangiocarcinoma	OMIM:615619
Polycystic Kidney Disease 5	Hyperechogenic kidneys, Polycystic kidney dysplasia, Stage 5 chronic kidney disease	OMIM:617610
Cholestasis, Progressive Familial Intrahepatic, 3	Hepatomegaly, Portal fibrosis, Elevated hepatic transaminase, Bile duct proliferation, Malabsorpt...	OMIM:602347
Renal Dysplasia, Cystic, Susceptibility To	Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins...	OMIM:601331
Nephronophthisis 20	Renal insufficiency, Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease	OMIM:617271
Nephronophthisis 13	Renal hypoplasia, Pancreatic cysts, Nephronophthisis, Hepatic cysts, Stage 5 chronic kidney disea...	OMIM:614377
Meckel Syndrome, Type 3	Hepatomegaly, Cleft palate, Malformation of the hepatic ductal plate, Hepatic fibrosis, Bile duct...	OMIM:607361
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Hepatic fibrosis, Asplenia, Pancreatic cysts, Bile duct proliferation, Hepatic cyst...	OMIM:208540
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Decreased liver function, Hepatic cysts, Polycystic kidney dysplasia	OMIM:600666
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Pancreatic cysts, Esophageal varix, Hepatic cysts, Tubulointerstitial fibrosis, Ren...	OMIM:263200
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Elevated hepatic transaminase	OMIM:614480
Campomelia, Cumming Type	Polycystic kidney dysplasia, Polysplenia, Pancreatic cysts, Polycystic liver disease	OMIM:211890
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease	Chronic kidney disease, Abnormal tubulointerstitial morphology, Cholestatic liver disease, Nephro...	OMIM:602114
Biliary Atresia, Extrahepatic	Hepatomegaly, Portal fibrosis, Acholic stools, Atretic gallbladder, Bile duct proliferation, Cirr...	OMIM:210500
Congenital Anomalies Of Kidney And Urinary Tract 3	Ectopic kidney, Hydronephrosis, Renal cyst, Vesicoureteral reflux	OMIM:618270
Senior-Loken Syndrome 8	Nephronophthisis, Hepatic cysts, Pancreatic cysts	OMIM:616307
Congenital Bile Acid Synthesis Defect Type 3	Bile duct proliferation, Cirrhosis, Elevated circulating aspartate aminotransferase concentration...	ORPHA:79302
Meckel Syndrome, Type 6	Cleft palate, Hepatic fibrosis, Bile duct proliferation, Renal cyst, Cystic liver disease	OMIM:612284
Fetal Cytomegalovirus Syndrome	Hepatomegaly, Anemia, Splenomegaly	ORPHA:294
Glycogen Storage Disease Ixc	Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly, Cirrhosi...	OMIM:613027
Meckel Syndrome, Type 7	Pancreatic cysts, Bile duct proliferation, Multiple glomerular cysts, Stage 5 chronic kidney dise...	OMIM:267010
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic fibrosis, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, El...	OMIM:619658
Nephronophthisis 3	Renal tubular atrophy, Hepatic fibrosis, Nephronophthisis, Tubulointerstitial fibrosis, Renal cor...	OMIM:604387
Nphp3-Related Meckel-Like Syndrome	Renal dysplasia, Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Abnorma...	ORPHA:3032
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Hepatic cysts, Decreased glomerular filtration rate, Renal insufficiency, Stage 5 chronic kidney ...	OMIM:618061
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Hepatic fibrosis, Esophageal varix, Bile duct proliferation, Cirrhosis, Elevated ci...	OMIM:619662
Autosomal Recessive Polycystic Kidney Disease	Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Splenomegaly, Biliary...	ORPHA:731
Hyperbiliverdinemia	Decreased liver function, Green urine, Cholelithiasis, Cholestasis	OMIM:614156
Autoinflammation, Immune Dysregulation, And Eosinophilia	Atopic dermatitis, Nephrotic syndrome, Short stature, Membranous nephropathy, Hepatic cysts, Colo...	OMIM:618999
Isolated Polycystic Liver Disease	Hepatomegaly, Multiple renal cysts, Polycystic liver disease, Abnormality of the pancreas	ORPHA:2924
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia	OMIM:173900
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Gallbladder Disease 1	Cholangitis, Hepatic fibrosis, Cholelithiasis, Pancreatitis, Cholesterol gallstones, Cholecystiti...	OMIM:600803
Nephronophthisis 16	Hepatic fibrosis, Nephronophthisis, Polycystic kidney dysplasia, Cholestasis, Renal insufficiency...	OMIM:615382
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis	OMIM:271500
Hanac Syndrome	Hematuria, Renal insufficiency, Multiple renal cysts	ORPHA:73229
Congenital Disorder Of Glycosylation, Type Icc	Hepatomegaly	OMIM:301031
Glycine N-Methyltransferase Deficiency	Elevated hepatic transaminase, Hepatomegaly	OMIM:606664
Autosomal Dominant Polycystic Kidney Disease	Pancreatic cysts, Pituitary growth hormone cell adenoma, Hepatic cysts, Decreased glomerular filt...	ORPHA:730
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Ascites, Renal cyst, Polycystic liver disease	OMIM:174050
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatic cysts, Stage 5 chronic kidney disease, Recurrent urinary tract infections, Polycystic kid...	OMIM:613095
Renal Hypodysplasia/Aplasia 3	Horseshoe kidney, Hydronephrosis, Renal agenesis, Renal dysplasia, Multicystic kidney dysplasia, ...	OMIM:617805
Polysyndactyly With Cardiac Malformation	Hepatic cysts, Renal cyst, Stillbirth	OMIM:263630
Porphyria Cutanea Tarda, Type I	Porphyrinuria, Hepatic fibrosis	OMIM:176090
Joubert Syndrome 6	Bile duct proliferation, Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease	OMIM:610688
Dubin-Johnson Syndrome	Biliary tract abnormality, Jaundice	OMIM:237500
Meckel Syndrome, Type 2	Meningocele, Bile duct proliferation, Cleft palate, Renal cyst	OMIM:603194
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Periportal fibrosis	OMIM:213010
Nephronophthisis-Like Nephropathy 1	Renal tubular atrophy, Pancreatic cysts, Nephronophthisis, Renal corticomedullary cysts, Stage 5 ...	OMIM:613159
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Death in infancy, Hepatic fibrosis, Pancreatic cysts, Respiratory insufficiency, Short stature, B...	OMIM:208500
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Iron deficiency anemia, Splenomegaly, Hepatic fa...	OMIM:616278
Caroli Syndrome	Abnormality of the intrahepatic bile duct, Cholangitis, Hepatomegaly, Cholangiocarcinoma, Elevate...	ORPHA:480520
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Hepatic fibrosis, Hepatic failure, Splenomegaly	OMIM:616719
Mirizzi Syndrome	Gallbladder perforation, Cholelithiasis, Pancreatitis, Dark urine, Cholesterol gallstones, Abnorm...	ORPHA:521219
Protoporphyria, Erythropoietic, X-Linked	Elevated hepatic transaminase, Cholelithiasis	OMIM:300752
Cystic Echinococcosis	Hepatomegaly, Splenic cyst, Peritoneal abscess, Biliary tract obstruction, Hepatic cysts, Membran...	ORPHA:400
Retinitis Pigmentosa 89	Hepatic fibrosis, Esophageal varix, Micronodular cirrhosis, Hepatosplenomegaly, Intrahepatic bile...	OMIM:618955
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Elevated hepatic transaminase, Biliary cirrho...	OMIM:617394
Campomelia, Cumming Type	Hepatomegaly, Abnormal intestine morphology, Cleft palate, Pancreatic cysts, Abnormality of the p...	ORPHA:1318
Nephronophthisis 9	Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease	OMIM:613824
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Pancreatic hypoplasia, Hepatic fibrosis, Pancreatic cysts, Splenic cyst, Hepatitis,...	OMIM:610199
Hemochromatosis, Type 2B	Hepatomegaly, Hepatic fibrosis, Anemia, Splenomegaly, Cirrhosis, Elevated hepatic transaminase	OMIM:613313
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal tubular atrophy, Nephrocalcinosis, Proximal tubulopathy, Tubulointerstitial fibrosis, Glome...	OMIM:310468
Gcgr-Related Hyperglucagonemia	Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology	ORPHA:438274
Parenteral Nutrition-Associated Cholestasis	Hepatomegaly, Hepatic fibrosis, Cholelithiasis, Splenomegaly, Biliary hyperplasia, Cirrhosis, Hep...	ORPHA:567983
Fibrosclerosis, Multifocal	Abnormality of the liver, Retroperitoneal fibrosis, Thyroiditis, Sclerosing cholangitis	OMIM:228800
Isolated Biliary Atresia	Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Atretic gallbladder, Bile duct proli...	ORPHA:30391
Neonatal Hemochromatosis	Prolonged neonatal jaundice, Congenital hepatic fibrosis, Abnormal localization of kidney	ORPHA:446
Low Phospholipid-Associated Cholelithiasis	Cholangitis, Hepatocellular carcinoma, Elevated hepatic transaminase, Biliary tract obstruction, ...	ORPHA:69663
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma	Cirrhosis, Abnormal intestine morphology, Hepatic fibrosis, Cholestasis	OMIM:609313
Fadd-Related Immunodeficiency	Decreased liver function, Hepatic fibrosis	ORPHA:306550
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Increased hepatic glycogen content, Hepatocellul...	ORPHA:369
Meckel Syndrome, Type 5	Abnormality of the urinary system, Bile duct proliferation, Cleft palate	OMIM:611561
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Elevated circulating alanine aminotransferase concentration, Hepatic bridging fibrosis, Howell-Jo...	OMIM:613759
Gallbladder Disease 4	Cholelithiasis	OMIM:611465
Caroli Disease	Cholangitis, Hepatomegaly, Cholangiocarcinoma, Hepatic fibrosis, Cholelithiasis, Splenomegaly, Li...	ORPHA:53035
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Hepatic cysts, Stage 5 chronic kidney disease	OMIM:613819
Renal-Hepatic-Pancreatic Dysplasia 2	Cystic renal dysplasia, Hepatomegaly, Hepatic fibrosis, Asplenia, Stillbirth, Cholestasis, Enlarg...	OMIM:615415
Congenital Megacalycosis	Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol...	ORPHA:93109
Senior-Loken Syndrome 9	Tubulointerstitial nephritis, Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease,...	OMIM:616629
Meckel Syndrome, Type 4	Meningocele, Bile duct proliferation, Cleft palate, Renal cyst	OMIM:611134
Acrocephalopolydactylous Dysplasia	Cystic renal dysplasia, Hepatomegaly, Hypoplastic colon, Hepatic fibrosis, Ascites, Enlarged kidn...	OMIM:200995
Alveolar Echinococcosis	Cholangitis, Pancreatic cysts, Abnormality of mesentery morphology, Hepatic cysts, Renal cyst, Co...	ORPHA:284
Peroxisome Biogenesis Disorder 6A (Zellweger)	Decreased liver function, Hepatomegaly, Renal cyst	OMIM:614870
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Renal tubular atrophy, Renal hypoplasia, Focal segmental glomerulosclerosis, Tubulointerstitial f...	OMIM:613092
Immunodeficiency, Common Variable, 6	Macroscopic hematuria, Hepatomegaly, Hydronephrosis, Mesangial Immune complex deposition, Stage 5...	OMIM:613496
Benign Recurrent Intrahepatic Cholestasis	Acholic stools, Hepatocellular carcinoma, Pancreatitis, Cholelithiasis, Cholestatic liver disease...	ORPHA:65682
Hemochromatosis, Neonatal	Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Cholestasis, Hepatic failure, Prolonged neo...	OMIM:231100
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly	ORPHA:79281
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Splenomegaly	OMIM:224100
Coach Syndrome 2	Portal fibrosis, Hepatic fibrosis, Elevated hepatic transaminase, Congenital hepatic fibrosis, Hy...	OMIM:619111
Immunodeficiency 56	Cholangitis, Bronchiectasis, Recurrent otitis media, Cirrhosis, Recurrent pneumonia, Hepatic fail...	OMIM:615207
Bardet-Biedl Syndrome 10	Renal insufficiency, Renal cyst, Abnormality of the kidney	OMIM:615987
Butyrylcholinesterase Deficiency	Abnormality of the liver, Respiratory failure, Respiratory failure requiring assisted ventilation	ORPHA:132
Senior-Loken Syndrome	Congenital hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Premature ovarian ...	ORPHA:3156
Congenital Anomalies Of Kidney And Urinary Tract 2	Cystic renal dysplasia, Renal hypoplasia, Hydronephrosis, Renal sarcoma, Nephrotic syndrome, Rena...	OMIM:143400
Sea-Blue Histiocyte Disease	Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly	OMIM:269600
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Hepatomegaly, High palate, Hepatic fibrosis, Macroglossia, Nephronophthisis, Renal dysplasia, Ren...	OMIM:266920
Senior-Boichis Syndrome	Renal hypoplasia, Malformation of the hepatic ductal plate, Hepatic fibrosis, Abnormal renal inst...	ORPHA:84081
Glycogen Storage Disease Iv	Tubulointerstitial fibrosis, Cirrhosis, Hepatosplenomegaly, Hepatic failure, Portal hypertension	OMIM:232500
Axial Osteomalacia	Renal cyst, Polycystic liver disease	OMIM:109130
Von Hippel-Lindau Syndrome	Pancreatic cysts, Renal cell carcinoma, Neoplasm of the pancreas, Abnormality of the liver, Multi...	OMIM:193300
Biliary Malformation With Renal Tubular Insufficiency	Generalized aminoaciduria, Renal tubular dysfunction, Glycosuria, Biliary hyperplasia, Aminoacidu...	OMIM:210550
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly	ORPHA:46532
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Ethylmalonic aciduria, Microvesicular hepatic steatosis, Hepatomegaly, Bile duct proliferation, M...	OMIM:203700
Citrullinemia, Type Ii, Adult-Onset	Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Argininosuccinic ...	OMIM:603471
Pearson Marrow-Pancreas Syndrome	Pancreatic fibrosis, Refractory sideroblastic anemia, Malabsorption	OMIM:557000
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies	Multinodular goiter, Renal cyst	OMIM:138790
Hemochromatosis Type 4	Congenital hepatic fibrosis, Hepatic steatosis, Cirrhosis	ORPHA:139491
Hemoglobin H Disease	Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia	OMIM:613978
Cholestasis With Gallstone, Ataxia, And Visual Disturbance	Giant cell hepatitis, Cholelithiasis, Jaundice	OMIM:214980
Immune Deficiency Disease	Cholangitis, Fulminant hepatitis	OMIM:242850
Hepatic Veno-Occlusive Disease	Hepatomegaly, Respiratory failure, Elevated hepatic transaminase, Renal insufficiency, Jaundice	ORPHA:890
African Iron Overload	Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe...	ORPHA:139507
Glycogen Storage Disease Ixb	Hepatomegaly, Increased hepatic glycogen content	OMIM:261750
Retinitis Pigmentosa 59	Hepatomegaly, Micropenis, Elevated hepatic transaminase, Cryptorchidism, Renal insufficiency	OMIM:613861
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Abnormality of the intrahepatic bile duct, Interface hepatitis, Granulomatous cholangitis, Choles...	ORPHA:562639
Cholestasis, Benign Recurrent Intrahepatic, 2	Intrahepatic cholestasis, Hepatomegaly, Cholelithiasis, Jaundice	OMIM:605479
Autosomal Erythropoietic Protoporphyria	Cirrhosis, Decreased liver function, Cholelithiasis	ORPHA:79278
Autoimmune Hepatitis	Inflammation of the large intestine, Ulcerative colitis, Hepatocellular carcinoma, Fulminant hepa...	ORPHA:2137
Ketamine-Induced Biliary Dilatation	Dysuria, Abnormal biliary tract morphology	ORPHA:293807
Pediatric Hepatocellular Carcinoma	Hepatomegaly, Hepatic necrosis, Hepatic fibrosis	ORPHA:33402
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Cystic renal dysplasia, Hepatomegaly, Ectopic kidney, Cryptorchidism, Abnormality of the kidney	OMIM:613730
Caroli Disease, Isolated	Hepatomegaly, Cholangitis, Portal hypertension, Liver abscess	OMIM:600643
Nephronophthisis 11	Renal tubular atrophy, Hepatic fibrosis, Nephronophthisis, Renal corticomedullary cysts, Stage 5 ...	OMIM:613550
Nephrotic Syndrome, Type 6	Focal segmental glomerulosclerosis, Tubulointerstitial fibrosis, Proteinuria, Nephrotic syndrome	OMIM:614196
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Acute hepatic failure, Hepatosplenomegaly, Hepatic fibrosis	ORPHA:466794
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly	OMIM:206400
Igg4-Related Thyroid Disease	Goiter, Retroperitoneal fibrosis, Nodular goiter, Abnormality of the pituitary gland, Euthyroid g...	ORPHA:64744
Pancreatitis, Sclerosing Cholangitis, And Sicca Complex	Keratoconjunctivitis sicca, Hepatomegaly, Pancreatitis, Angular cheilitis, Sclerosing cholangitis...	OMIM:260480
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities	Renal hypoplasia, Respiratory insufficiency, Neonatal death, Renal cyst, Respiratory failure	OMIM:228940
Bardet-Biedl Syndrome 16	Renal agenesis, Renal dysplasia, Recurrent otitis media, Renal cyst, Respiratory distress, Renal ...	OMIM:615993
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Nephronophthisis 1	Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst...	OMIM:256100
Aa Amyloidosis	Hepatomegaly, Nephrotic syndrome, Acute kidney injury, Cholestasis, Nephropathy, Chronic kidney d...	ORPHA:85445
Bare Lymphocyte Syndrome, Type Ii	Cholangitis, Infectious encephalitis, Colitis, Chronic mucocutaneous candidiasis, Recurrent urina...	OMIM:209920
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Ascites, Biliary tract obstruction, Hepatic cysts, Neoplasm of the liver, Intrahepa...	ORPHA:100085
Rhyns Syndrome	Abnormality of the liver, Multicystic kidney dysplasia, Nephronophthisis, Hypopituitarism	ORPHA:140976
Coach Syndrome 1	Hepatomegaly, Hepatic fibrosis, Esophageal varix, Nephronophthisis, Multiple small medullary rena...	OMIM:216360
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Hyperlipoproteinemia, Type Id	Hepatomegaly, Colitis, Splenomegaly	OMIM:615947
Immunodeficiency 92	Cholangitis, Hepatomegaly, Pneumonia, Esophagitis, Osteomyelitis, Sclerosing cholangitis	OMIM:619652
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multinodular goiter, Multicystic kidney dysplasia	ORPHA:2091
Plin1-Related Familial Partial Lipodystrophy	Hepatic steatosis, Polycystic ovaries, Hepatic fibrosis	ORPHA:280356
Alpha-Thalassemia	Jaundice, Hypersplenism, Cholelithiasis, Splenomegaly	ORPHA:846
Lysosomal Acid Lipase Deficiency	Esophageal varix, Bone-marrow foam cells, Splenomegaly, Hypersplenism, Hepatosplenomegaly, Steato...	OMIM:278000
Nephronophthisis 4	Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst...	OMIM:606966
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Hepatic fibrosis, Hepatic steatosis, Steatorrhea, Pancreatic fibrosis	OMIM:616263
Immunodeficiency 48	Hepatomegaly, Splenomegaly	OMIM:269840
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Lymphangiectasis, Villous atrophy, Hepatic fibrosis, Cirrhosis, Hepatic failure, Pr...	OMIM:602579
Hardikar Syndrome	Cholangitis, Esophageal varix, Intrahepatic bile duct cysts, Splenomegaly, Hepatosplenomegaly, Hy...	OMIM:301068
Glycogen Storage Disease Vii	Exercise-induced myoglobinuria, Cholelithiasis, Jaundice	OMIM:232800
Congenital Bile Acid Synthesis Defect Type 1	Hepatomegaly, Malabsorption, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Elevate...	ORPHA:79301
Bardet-Biedl Syndrome 6	Hypospadias, Renal cyst	OMIM:605231
Combined Oxidative Phosphorylation Deficiency 52	Death in infancy, Lacticaciduria, Pancreatitis, Hepatic steatosis, Elevated circulating alanine a...	OMIM:619386
Protoporphyria, Erythropoietic, 1	Cholelithiasis, Hepatic failure	OMIM:177000
Tyrosinemia Type 1	Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma, Splenomegaly	ORPHA:882
Glycogen Storage Disease Iii	Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis	OMIM:232400
Martinez-Frias Syndrome	Hypospadias, Pancreatic hypoplasia, Annular pancreas, Extrahepatic biliary duct atresia, Hypoplas...	OMIM:601346
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Hepatocellular Carcinoma	Subacute progressive viral hepatitis, Micronodular cirrhosis, Hepatocellular carcinoma	OMIM:114550
Kaposiform Lymphangiomatosis	Pancreatic cysts, Abnormal lymphatic vessel morphology, Lymphangioma, Abnormality of the lymphati...	ORPHA:464329
Orofaciodigital Syndrome I	Cleft palate, High palate, Pancreatic cysts, Hepatic fibrosis, Myelomeningocele, Tongue nodules, ...	OMIM:311200
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Hydronephrosis, Eczema, Pancreatic hypoplasia, Superficial dermal perivascular infl...	ORPHA:83617
Nephronophthisis 2	Chronic tubulointerstitial nephritis, Respiratory insufficiency, Nephronophthisis, Stage 5 chroni...	OMIM:602088
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Esophageal varix, Splenomegaly, Elevated hepatic transaminase, Portal hypertension	OMIM:617068
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Hepatomegaly	OMIM:605911
Adams-Oliver Syndrome 6	Renal hypoplasia, Portal hypertension, Hepatic fibrosis, Esophageal varix	OMIM:616589
Arima Syndrome	Renal tubular atrophy, Occipital meningocele, Hepatomegaly, Hepatic fibrosis, Nephronophthisis, T...	OMIM:243910
Peroxisome Biogenesis Disorder 3A (Zellweger)	Hepatomegaly, Polycystic kidney dysplasia	OMIM:614859
Meckel Syndrome	Cleft palate, Pancreatic cysts, Asplenia, Congenital hepatic fibrosis, Aplasia/Hypoplasia of the ...	ORPHA:564
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Pigment gallstones, Cholelithiasis, Splenomegaly, Cholecystitis, Jaundice	OMIM:613470
Disorder Of Bile Acid Synthesis	Elevated hepatic transaminase, Biliary tract abnormality, Cholestasis, Abnormality of the liver	ORPHA:79168
Peroxisome Biogenesis Disorder 4A (Zellweger)	Respiratory failure, Hepatomegaly, Death in infancy, Renal cyst	OMIM:614862
Multiple Acyl-Coa Dehydrogenase Deficiency	Renal cortical cysts, Hepatomegaly, Ethylmalonic aciduria, Generalized aminoaciduria, Proximal tu...	OMIM:231680
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Hepatic fibrosis, Nephronophthisis, Splenomegaly, Cholestasis, Hepatic failure, Chr...	OMIM:615630
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Nephronophthisis 18	Renal tubular atrophy, Tubulointerstitial nephritis, Portal fibrosis, Nephronophthisis, Stage 5 c...	OMIM:615862
Hyperbilirubinemia, Shunt, Primary	Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate producti...	OMIM:237800
Joubert Syndrome 9	Stage 5 chronic kidney disease, Apnea, Hepatic fibrosis, Episodic tachypnea	OMIM:612285
Combined Oxidative Phosphorylation Deficiency 37	Bile duct proliferation, Macrovesicular hepatic steatosis, Decreased liver function, Elevated hep...	OMIM:618329
Peroxisome Biogenesis Disorder 10A (Zellweger)	Hepatomegaly, High palate	OMIM:614882
Lambert Syndrome	Jaundice, Hypospadias, Intrahepatic biliary atresia	OMIM:245550
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal tubular atrophy, Renal hypoplasia, Tubulointerstitial nephritis, Renal cortical atrophy, De...	OMIM:174000
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive	Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly	OMIM:608971
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Abnormal intestine morphology, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic ...	OMIM:618495
Crigler-Najjar Syndrome Type 1	Abnormality of the liver, Biliary tract abnormality, Prolonged neonatal jaundice	ORPHA:79234
D-Bifunctional Protein Deficiency	Fetal ascites, Hepatomegaly, High palate, Bile duct proliferation, Renal cyst, Splenomegaly, Hepa...	OMIM:261515
Amyloidosis, Familial Visceral	Hepatomegaly, Nephrotic syndrome, Hematuria, Splenomegaly, Cholestasis, Nephropathy, Proteinuria	OMIM:105200
Reticuloendotheliosis, X-Linked	Lymphadenopathy, Hepatosplenomegaly, Anemia, Jaundice	OMIM:312500
Erythrocytosis, Familial, 8	Jaundice, Cholelithiasis, Cholecystitis, Splenomegaly	OMIM:222800
Rft1-Cdg	Hepatomegaly	ORPHA:244310
Joubert Syndrome 35	Recurrent urinary tract infections, Multicystic kidney dysplasia, Hydronephrosis, Renal fibrosis	OMIM:618161
Budd-Chiari Syndrome	Cirrhosis, Hepatocellular carcinoma	OMIM:600880
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jau...	OMIM:211600
Hemochromatosis Type 2	Congenital hepatic fibrosis, Abnormality of endocrine pancreas physiology, Elevated hepatic trans...	ORPHA:79230
Hepatoportal Sclerosis	Esophageal varix, Hepatocellular carcinoma, Ascites, Leukopenia, Anemia, Nodular regenerative hyp...	ORPHA:64743
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Persistence of hemoglobin F, Splenomegaly, Microcytic anemia, Erythrocyte inclusion...	OMIM:603902
Laurence-Moon Syndrome	Congenital hepatic fibrosis, Displacement of the urethral meatus, Cryptorchidism, Hypoplasia of p...	ORPHA:2377
Pancreatic Colipase Deficiency	Exocrine pancreatic insufficiency, Cholelithiasis	ORPHA:309108
Cholangiocarcinoma	Biliary tract neoplasm, Acholic stools, Jaundice	ORPHA:70567
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Hemoglobinuria, Hepatitis, Cholelithiasis, Splenomegaly, Jaundice	OMIM:194380
Hereditary Amyloidosis With Primary Renal Involvement	Renal tubular atrophy, Hepatomegaly, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased ...	ORPHA:85450
Mitochondrial Complex I Deficiency, Nuclear Type 30	Respiratory failure, Neonatal death, Intrauterine growth retardation	OMIM:301021
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Polycystic kidney dysplasia, Renal angiomyolipoma	OMIM:600273
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Cholangitis, Jaundice	OMIM:607626
Medullary cystic kidney disease 2	Renal tubular atrophy, Tubulointerstitial nephritis, Multiple small medullary renal cysts, Renal ...	OMIM:603860
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Cholangitis, Hepatitis, Cirrhosis, Hepatosplenomegaly, Hypersplenism, Acute hepatic failure, Thyr...	ORPHA:228426
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Atopic dermatitis, Cholangitis, Psoriasiform dermatitis, Allergic rhinitis, Pneumonia, Bronchiect...	ORPHA:183675
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Death in infancy, Respiratory insufficiency, Splenomegaly	ORPHA:139406
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatomegaly, Generalized aminoaciduria, Hepatocellular necrosis, Depletion of mitochondrial DNA ...	OMIM:251880
Infantile Liver Failure Syndrome 3	Hepatomegaly, Short stature, Splenomegaly, Hepatic steatosis, Acute hepatic failure, Cholestasis,...	OMIM:618641
Psoriasis 14, Pustular	Cholangitis, Pustule, Psoriasiform dermatitis, Oligoarthritis	OMIM:614204
Pyruvate Kinase Deficiency Of Red Cells	Jaundice, Cholelithiasis, Cholecystitis, Splenomegaly	OMIM:266200
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Myoglobinuria, Hepatic necrosis, Dicarboxylic aciduria, Hepatic steatosis	OMIM:231530
Nephronophthisis 14	Nephronophthisis, Polycystic kidney dysplasia	OMIM:614844
Galactosemia Iii	Hepatomegaly, Splenomegaly, Aminoaciduria, Galactosuria, Jaundice	OMIM:230350
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Jaundice, Cholelithiasis, Cholecystitis, Splenomegaly	OMIM:235700
Short Rib-Polydactyly Syndrome	Hypospadias, Intrauterine growth retardation, Hepatic fibrosis, Nephronophthisis, Hepatic cysts, ...	ORPHA:1505
Peroxisome Biogenesis Disorder 1B	Hepatomegaly, Hepatic fibrosis, Hyperoxaluria, Renal cyst, Cirrhosis	OMIM:601539
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro...	OMIM:133180
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Microvesicular hepatic steatosis, Cholangitis, Tubulointerstitial nephritis, Decreased liver func...	OMIM:124000
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hepatomegaly	OMIM:615158
Bilateral Striopallidodentate Calcinosis	Abnormality of the liver, Hepatomegaly	ORPHA:1980
Congenital Disorder Of Glycosylation, Type Ii	Hepatomegaly	OMIM:607906
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hydronephrosis, Intrauterine growth retardation, Duplicated collecting system, Decreased liver fu...	OMIM:617093
Hyperparathyroidism 2 With Jaw Tumors	Parathyroid carcinoma, Pancreatic adenocarcinoma, Recurrent pancreatitis, Nephrolithiasis, Renal ...	OMIM:145001
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Methylmalonic aciduri...	OMIM:245400
Alpha-1-Antitrypsin Deficiency	Hepatomegaly, Nephrotic syndrome, Hepatitis, Hepatic failure, Jaundice	ORPHA:60
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Malabsorption, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Elevate...	OMIM:214900
Pearson Syndrome	Neutropenia, Splenomegaly, Steatorrhea, Pancytopenia, Renal cyst, Bone marrow hypocellularity, He...	ORPHA:699
Immunodeficiency 54	Hepatomegaly, Intrauterine growth retardation, Respiratory insufficiency, Short stature, Splenome...	OMIM:609981
Igg4-Related Kidney Disease	Tubulointerstitial nephritis, Chronic kidney disease, Inflammatory abnormality of the skin, Peric...	ORPHA:449395
Systemic Primary Carnitine Deficiency	Elevated hepatic transaminase, Hepatomegaly	ORPHA:158
Lymphoid Interstitial Pneumonia	Wheezing, Hepatomegaly, Hypoxemia, Eczema, Keratoconjunctivitis sicca, Crackles, Bronchiectasis, ...	ORPHA:79128
Alagille Syndrome 2	Renal hypoplasia, Renal tubular acidosis, Hematuria, Renal cyst, Cholestatic liver disease, Chole...	OMIM:610205
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Splenomegaly	OMIM:182900
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly	OMIM:609016
Galactose Epimerase Deficiency	Jaundice, Hepatomegaly, Aminoaciduria, Splenomegaly	ORPHA:79238
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Hepatomegaly, Hepatic calcification, Ureteral duplication, Hydronephrosis, Respiratory insufficie...	OMIM:608836
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Respiratory failure, Central apnea, Death in infancy, Respiratory insufficiency	OMIM:611722
Dubin-Johnson Syndrome	Hepatomegaly, Abnormal gastric mucosa morphology, Abnormality of the liver, Abnormal urinary colo...	ORPHA:234
Peroxisome Biogenesis Disorder 8A (Zellweger)	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Glossoptosis, Jaundice	OMIM:614876
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Cleft palate, Hepatic fibrosis, Hamartoma of tongue, Microglossia, Intestinal malrotation, Polycy...	OMIM:263520
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory failure, Hepatomegaly, Death in infancy, Respiratory insufficiency	OMIM:614299
Congenital Disorder Of Glycosylation, Type Iir	Hypospadias, Hepatomegaly, Ascites, Micronodular cirrhosis, Decreased liver function, Hepatic ste...	OMIM:301045
Diaphanospondylodysostosis	Cystic renal dysplasia, Intrauterine growth retardation, Respiratory insufficiency, Nephrogenic r...	OMIM:608022
Mpi-Cdg	Hepatomegaly, Hepatic fibrosis, Decreased liver function, Portal hypertension, Protein-losing ent...	ORPHA:79319
Bardet-Biedl Syndrome 4	Cryptorchidism, Renal cyst, Abnormality of the kidney	OMIM:615982
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Hepatomegaly	OMIM:306000
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Pancreatic fibrosis	OMIM:615503
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hepatomegaly, Increased hepatic glycogen content	OMIM:232700
Sickle Cell Anemia	Hepatomegaly, Hematuria, Cholelithiasis, Splenomegaly, Renal insufficiency, Jaundice	OMIM:603903
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Hypospadias, Hepatomegaly, Death in infancy, Infectious encephalitis, Intrauterine growth retarda...	ORPHA:1194
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Respiratory arrest, Hepatomegaly, Death in infancy, Hepatocellular necrosis, Tachypnea, Cardiomeg...	OMIM:201475
Bardet-Biedl Syndrome	Hepatic fibrosis, Nephrotic syndrome, Hypoplasia of the ovary, Multicystic kidney dysplasia, Cryp...	ORPHA:110
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hepatomegaly, Splenomegaly	OMIM:618541
Cholestasis, Progressive Familial Intrahepatic, 6	Elevated hepatic transaminase, Intrahepatic cholestasis, Periportal fibrosis	OMIM:619484
Renal Dysplasia	Abnormal renal calyx morphology, Chronic kidney disease, Abnormal nephron morphology, Vesicovagin...	ORPHA:93108
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Malabsorption, Splenomegaly, Cholestasis, Jaundice	ORPHA:172
Beta-Thalassemia	Hepatomegaly, Hepatitis, Cholelithiasis, Splenomegaly	ORPHA:848
Microsporidiosis	Sinusitis, Cholangitis, Myocarditis, Hepatitis, Abnormality of the urinary system physiology, Inf...	ORPHA:2552
Immunodeficiency With Hyper-Igm, Type 1	Hepatomegaly, Stomatitis, Hepatitis, Splenomegaly, Cirrhosis, Chronic hepatitis, Sclerosing chola...	OMIM:308230
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thromb...	OMIM:615285
Cranioectodermal Dysplasia 2	Cholangitis, Hepatomegaly, Cleft palate, High palate, Portal fibrosis, Bile duct proliferation, R...	OMIM:613610
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Hepatic cysts, Eosinophilia, Lymphopenia, Anal atresia	OMIM:617425
Mantle Cell Lymphoma	Lymphadenopathy, Splenomegaly	ORPHA:52416
Glycogen Storage Disease Xii	Jaundice, Cholelithiasis, Cholecystitis, Splenomegaly	OMIM:611881
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Aminoaciduria, Splenomegaly	ORPHA:417
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis	OMIM:618852
Multiple Symmetric Lipomatosis	Hepatomegaly	ORPHA:2398
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency	Hepatomegaly, Myoglobinuria, Portal fibrosis, Hepatic fibrosis, Hepatocellular carcinoma, Esophag...	ORPHA:370
North American Indian Childhood Cirrhosis	Prolonged neonatal jaundice, Biliary cirrhosis, Portal hypertension	OMIM:604901
Nephronophthisis 12	Nephronophthisis, Stage 5 chronic kidney disease	OMIM:613820
Mitchell-Riley Syndrome	Pancreatic hypoplasia, Acholic stools, Annular pancreas, Absent gallbladder, Biliary atresia, Cho...	OMIM:615710
Red Cell Phospholipid Defect With Hemolysis	Reticulocytosis, Intermittent jaundice, Splenomegaly	OMIM:179700
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Meningocele, Respiratory insufficiency, Short stature, Congenital hepatic fibrosis, Renal cyst, M...	ORPHA:2031
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Median cleft palate, Hepatomegaly	ORPHA:2432
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Hydronephrosis, Intrauterine growth retardation, Hepatic fibrosis, Growth delay, Esophagitis, Dup...	ORPHA:541423
Bile Acid Malabsorption, Primary, 2	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:619481
Transaldolase Deficiency	Hepatomegaly, Hepatic fibrosis, Micronodular cirrhosis, Anemia, Splenomegaly, Cirrhosis, Decrease...	OMIM:606003
Glycosylphosphatidylinositol Biosynthesis Defect 1	Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Congenital Bile Acid Synthesis Defect Type 2	Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Elevated hepatic t...	ORPHA:79303
Alport Syndrome	Renal tubular atrophy, Glomerular basement membrane lamellation, Focal segmental glomeruloscleros...	ORPHA:63
Interstitial Lung And Liver Disease	Hepatomegaly, Hypoxemia, Hepatic fibrosis, Respiratory insufficiency, Cough, Cirrhosis, Hepatic s...	OMIM:615486
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly	OMIM:183350
3-Methylglutaconic Aciduria Type 1	Hepatomegaly, 3-Methylglutaconic aciduria	ORPHA:67046
Beta-Thalassemia Intermedia	Hepatomegaly, Hypoparathyroidism, Elevated hepatic iron concentration, Hepatocellular carcinoma, ...	ORPHA:231222
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Lymphadenopathy, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic ane...	ORPHA:444463
Meckel Syndrome, Type 9	Multicystic kidney dysplasia	OMIM:614209
Fanconi Renotubular Syndrome 5	Tubulointerstitial fibrosis, Stage 5 chronic kidney disease, Glycosuria, Aminoaciduria, Proteinuria	OMIM:618913
Meckel Syndrome, Type 1	Cleft palate, Malformation of the hepatic ductal plate, Abnormality of the ureter, Asplenia, Rena...	OMIM:249000
Immunodeficiency By Defective Expression Of Mhc Class Ii	Sinusitis, Rhinitis, Chronic mucocutaneous candidiasis, Skin rash, Chronic hepatitis due to crypt...	ORPHA:572
Interstitial Pneumonitis, Desquamative, Familial	Tubulointerstitial fibrosis	OMIM:263000
Cystic Hamartoma Of Lung And Kidney	Multicystic kidney dysplasia	ORPHA:2111
Mitochondrial Complex I Deficiency, Nuclear Type 18	Respiratory failure, Hydronephrosis, Death in infancy, Hydroureter	OMIM:618240
Cirrhosis, Familial	Cirrhosis, Chronic active hepatitis, Hepatitis	OMIM:118900
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Abnormality of the urinary system, Cough, Respiratory failure, Dyspnea, Respiratory failure requi...	ORPHA:90117
Meckel Syndrome, Type 11	Polycystic kidney dysplasia	OMIM:615397
Glycogen Storage Disease Ia	Hepatomegaly, Focal segmental glomerulosclerosis, Hepatocellular carcinoma, Short stature, Decrea...	OMIM:232200
Inflammatory Pseudotumor Of The Liver	Abnormal liver sonography, Neoplasm of the liver, Cirrhosis, Elevated circulating aspartate amino...	ORPHA:90003
Biliary Cirrhosis, Primary, 1	Biliary cirrhosis	OMIM:109720
Tuberous Sclerosis Complex	Pheochromocytoma, Renal cell carcinoma, Hepatic cysts, Renal cyst, Stage 5 chronic kidney disease...	ORPHA:805
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies	Respiratory failure, Respiratory insufficiency	OMIM:208081
Alpha-Heavy Chain Disease	Hepatomegaly, Abnormality of the small intestine, Ascites, Lymphadenopathy, Anemia, Malabsorption...	ORPHA:100025
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated hepatic transaminase, Renal tubular dysfunction, Cholelithiasis, Hepatic failure	OMIM:614886
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Mastocytosis	ORPHA:66661
Donohue Syndrome	Intrauterine growth retardation, Hepatic fibrosis, Long penis, Pancreatic islet-cell hyperplasia,...	OMIM:246200
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Hepatitis, Splenomegaly, Cirrhosis, ...	OMIM:613812
Igg4-Related Submandibular Gland Disease	Abnormal salivary gland morphology, Cholangitis, Prostatitis, Abnormal pancreas morphology, Retro...	ORPHA:449432
Cranioectodermal Dysplasia 1	Hepatomegaly, High, narrow palate, High palate, Malformation of the hepatic ductal plate, Hepatic...	OMIM:218330
Von Hippel-Lindau Disease	Adrenal pheochromocytoma, Pancreatic islet cell adenoma, Pancreatic cysts, Renal cell carcinoma, ...	ORPHA:892
Indomethacin Embryofetopathy	Respiratory insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology, Nephro...	ORPHA:1909
Osteootohepatoenteric Syndrome	Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Villous atrophy, Portal fibrosi...	OMIM:619377
Congenital Disorder Of Glycosylation, Type Iiw	Moderate albuminuria, Hepatomegaly, Increased hepatic echogenicity, Elevated hepatic transaminase...	OMIM:619525
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Reticulocytosis, Anemia of inadequate ...	OMIM:613673
Thomas Syndrome	Multicystic kidney dysplasia, Cleft palate, Renal hypoplasia/aplasia	ORPHA:3316
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hypospadias, Renal hypoplasia, Cleft palate, High palate, Hepatic fibrosis, Ascites, Renal cyst, ...	OMIM:614091
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Acute hepatic steatosis, Hepatitis, Macrovesicular hepatic steatosis, Cholesterol gallstones, Hep...	ORPHA:209902
Cholesteryl Ester Storage Disease	Hepatomegaly, Esophageal varix, Splenomegaly, Cirrhosis, Hepatic failure, Jaundice	ORPHA:75234
Galactose Mutarotase Deficiency	Decreased liver function, Hepatomegaly, Cholestasis	ORPHA:570422
Aicardi-Goutieres Syndrome 9	Hepatomegaly, Hepatic fibrosis, Ascites, Glomerular sclerosis, Stage 5 chronic kidney disease, Le...	OMIM:619487
Glycogen Storage Disease Ib	Hepatomegaly, Focal segmental glomerulosclerosis, Hepatocellular carcinoma, Short stature, Decrea...	OMIM:232220
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Erythroid hyperplasia, Anemia, Sp...	OMIM:616860
Combined Immunodeficiency-Enteropathy Spectrum	Peritoneal abscess, Hypoplasia of the thymus, Hepatitis, Intestinal malrotation, Abnormality of t...	ORPHA:436252
Fanconi Anemia, Complementation Group O	Cryptorchidism, Renal cyst, Stage 5 chronic kidney disease, Hydronephrosis	OMIM:613390
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Acholic stools, Biliary tract abnormality, Abnormality of the lymphatic system, Spl...	ORPHA:1414
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatomegaly, Myoglobinuria, Portal fibrosis, Hepatic fibrosis, Esophageal varix, Renal tubular a...	ORPHA:264580
Combined Oxidative Phosphorylation Deficiency 4	Respiratory failure, Hepatomegaly, Death in infancy, Intrauterine growth retardation	OMIM:610678
Orofaciodigital Syndrome Type 1	Hydronephrosis, Cleft palate, High palate, Pancreatic cysts, Hamartoma of tongue, Tongue nodules,...	ORPHA:2750
Alg9-Cdg	Hepatomegaly, Hydronephrosis, Hypoplastic nipples, Villous atrophy, Abnormal renal artery morphol...	ORPHA:79328
Multiple Acyl-Coa Dehydrogenase Deficiency	Ethylmalonic aciduria, Hepatomegaly, Lacticaciduria, Glutaric aciduria, Decreased liver function,...	ORPHA:26791
Congenital Disorder Of Glycosylation, Type Iio	Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Cholestatic liver disease, ...	OMIM:616828
Primary Sclerosing Cholangitis	Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatitis, Splenomegaly, Hepatosplenomegaly, Ade...	ORPHA:171
Lower Limb Malformation-Hypospadias Syndrome	Hypospadias, Abnormality of the spleen, Abnormality of the ureter, Respiratory insufficiency	ORPHA:2487
Peroxisome Biogenesis Disorder 11A (Zellweger)	Decreased liver function, Renal cyst, Multiple renal cysts, Elevated hepatic transaminase	OMIM:614883
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:86893
Developmental And Epileptic Encephalopathy 71	Respiratory failure, Respiratory insufficiency	OMIM:618328
Myotonic Dystrophy 1	Testicular atrophy, Cholelithiasis	OMIM:160900
Thrombocytopenia-Absent Radius Syndrome	Horseshoe kidney, Death in infancy, Pancreatic cysts, Short stature, Seborrheic dermatitis, Axial...	OMIM:274000
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Poikilocytosis, Decreased mean corpuscular volume	OMIM:615234
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Cholelithiasis, Cholestatic liver disease	ORPHA:79095
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Renal hypoplasia, Death in infancy, Renal tubular acidosis, Renal dysplasia, Renal ...	OMIM:614922
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Elevated circulating growth hormone concentration, Polycystic ovaries, Enlarged polycystic ovarie...	ORPHA:90301
Mulibrey Nanism	Hepatomegaly	ORPHA:2576
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hepatomegaly, Cholestasis, Hepatic failure, Abnormal mitochondrial morphology, Elevated hepatic t...	OMIM:618528
Mucopolysaccharidosis-Plus Syndrome	Renal tubular atrophy, Hepatomegaly, Focal segmental glomerulosclerosis, Nephrotic syndrome, Neph...	OMIM:617303
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Cyst of the ductus choledochus, Bifid uvula	OMIM:619480
Renal Tubular Dysgenesis	Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts, Nephropathy	ORPHA:3033
Niemann-Pick Disease, Type B	Hepatomegaly, Bone-marrow foam cells, Sea-blue histiocytosis, Splenomegaly	OMIM:607616
Congenital Arthrogryposis With Anterior Horn Cell Disease	Respiratory failure, Cryptorchidism, Respiratory insufficiency due to muscle weakness, Neonatal d...	OMIM:611890
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Polycystic ovaries, Pancreatitis, Hepatic steatosis	ORPHA:79084
Immunodeficiency 47	Hepatomegaly, Normocytic anemia, Hepatic fibrosis, Leukopenia, Elevated hepatic transaminase, Thr...	OMIM:300972
3-Methylglutaconic Aciduria, Type Viii	Death in infancy, Growth delay, Apnea, Respiratory failure, 3-Methylglutaconic aciduria	OMIM:617248
Microgastria-Limb Reduction Defects Association	Cystic renal dysplasia, Horseshoe kidney, Asplenia, Pelvic kidney, Splenogonadal fusion, Absent g...	OMIM:156810
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Cholangitis, Eczema, Erythroderma, Portal fibrosis, Pancrea...	ORPHA:3260
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Intrauterine growth retardation, Growth delay, Severe short statur...	OMIM:619057
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Chronic active hepatitis, Hypoparathyroidism, Asplenia, Nephrocalcinosis, Cholelithiasis, Prematu...	OMIM:240300
Developmental And Epileptic Encephalopathy 36	Hepatomegaly	OMIM:300884
Pancreas, Annular	High intestinal obstruction, Duodenal stenosis, Annular pancreas	OMIM:167750
Annular Pancreas	High intestinal obstruction, Duodenal stenosis, Annular pancreas	ORPHA:675
Combined Saposin Deficiency	Hepatomegaly, Splenomegaly	OMIM:611721
Dent Disease	Renal tubular atrophy, Hyperphosphaturia, Focal segmental glomerulosclerosis, Aminoaciduria, Neph...	ORPHA:1652
Sandhoff Disease	Hepatomegaly, Splenomegaly	ORPHA:796
Coproporphyria, Hereditary	Hepatomegaly, Splenomegaly, Increased urinary porphobilinogen, Elevated urinary delta-aminolevuli...	OMIM:121300
Immunodeficiency 16	Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly	OMIM:615593
Cystic Fibrosis	Hepatomegaly, Biliary cirrhosis, Malabsorption, Exocrine pancreatic insufficiency	ORPHA:586
Renal Cysts And Diabetes Syndrome	Hypospadias, Renal hypoplasia, Pancreatic hypoplasia, Multiple glomerular cysts, Renal cyst, Neph...	OMIM:137920
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Cyst of the ductus choledochus, Hydronephrosis, Hypoplastic nipples, Short stature, Renal dysplas...	ORPHA:480880
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Abnormal respiratory system physiology, Respiratory insufficiency, Reduced maximal inspiratory pr...	ORPHA:266
Rajab Interstitial Lung Disease With Brain Calcifications 1	High palate, Esophageal varix, Ascites, Bile duct proliferation, Intestinal malrotation, Cirrhosi...	OMIM:613658
Tyrosinemia, Type I	Hepatomegaly, Renal Fanconi syndrome, Hepatocellular carcinoma, Nephrocalcinosis, Glomerular scle...	OMIM:276700
Joubert Syndrome With Hepatic Defect	Hepatomegaly, Intrahepatic biliary atresia, Congenital hepatic fibrosis, Neoplasm of the liver, S...	ORPHA:1454
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hepatic steatosis	OMIM:615238
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Esophageal varix, Hepatocellular carcinoma, Ascites, Nodular regenerative hyperplas...	OMIM:619463
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocyto...	OMIM:603552
Primary Biliary Cholangitis	Abnormality of the intrahepatic bile duct, Hepatic fibrosis, Hepatocellular carcinoma, Ascites, C...	ORPHA:186
Immunodeficiency 84	Perianal abscess, B lymphocytopenia, Splenomegaly	OMIM:619437
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Focal segmental glomerulosclerosis, Intrauterine growth retardation, Short stature, Gout, Renal c...	OMIM:617056
Liver Failure, Infantile, Transient	Microvesicular hepatic steatosis, Hepatomegaly, Macrovesicular hepatic steatosis, Acute hepatic f...	OMIM:613070
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatomegaly, Myoglobinuria, Hepatic fibrosis, Hepatocellular carcinoma, Renal tubular acidosis, ...	ORPHA:79240
Anemia, Congenital Dyserythropoietic, Type Ib	Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulo...	OMIM:615631
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Growth delay, Short stature, Stillbirth, Splenomegaly, Absence of renal corticomedu...	OMIM:259720
Sialuria	Elevated hepatic transaminase, Hepatomegaly, Hepatosplenomegaly, Cholelithiasis	ORPHA:3166
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Restrictive ventilatory defect, Crackles, Cardiomegaly, Cough, Hepatosplenomegaly, ...	ORPHA:99931
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset	Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency, Respiratory distress	OMIM:614399
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly	ORPHA:231393
Mitochondrial Complex I Deficiency, Nuclear Type 11	Macrovesicular hepatic steatosis, Hepatomegaly	OMIM:618234
Spinal Muscular Atrophy, Type I	Respiratory failure, Respiratory insufficiency	OMIM:253300
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Anemia, Splenomegaly	ORPHA:100024
Congenital Disorder Of Glycosylation, Type Ia	Hepatomegaly, Hepatic fibrosis, Nephrotic syndrome, Proximal tubulopathy, Renal cyst, Hepatic ste...	OMIM:212065
Lambert Syndrome	Jaundice, Hypospadias, Cholestasis, Intrahepatic biliary atresia	ORPHA:1296
Mitochondrial Complex I Deficiency, Nuclear Type 3	Hepatomegaly	OMIM:618224
Cyanosis, Transient Neonatal	Hepatomegaly, Jaundice	OMIM:613977
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Intermittent jaundice, Pancreatitis	OMIM:243300
Peutz-Jeghers Syndrome	Rectal prolapse, Abnormality of the gallbladder, Stomach cancer, Neoplasm of the rectum, Esophage...	ORPHA:2869
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Cirrhosis, Intrahepatic cholestasis, Interm...	OMIM:601847
Porphyria Cutanea Tarda	Elevated hepatic iron concentration, Hepatocellular carcinoma, Chronic hepatitis, Hepatic lobular...	ORPHA:101330
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Renal hypoplasia, Renal dysplasia, Neonatal death, Renal cyst, Stillbirth, Ureteral agenesis	OMIM:236500
Dominant Beta-Thalassemia	Hypoparathyroidism, Hepatic fibrosis, Hepatocellular carcinoma, Hypochromic microcytic anemia, Sp...	ORPHA:231226
Hemoglobin D Disease	Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia...	ORPHA:90039
Arthrogryposis Multiplex Congenita 6	Hypospadias, Death in infancy, Neonatal death, Death in childhood, Respiratory failure	OMIM:619334
Citrullinemia Type Ii	Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Enuresis, Pancreatitis, Hepatic steatos...	ORPHA:247585
Bile Acid Conjugation Defect 1	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619232
Lethal Osteosclerotic Bone Dysplasia	Respiratory failure, Respiratory distress, Dyspnea, Intrauterine growth retardation	ORPHA:1832
Hepatitis, Fulminant Viral, Susceptibility To	Hepatomegaly, Fulminant hepatitis, Hepatic failure, Elevated hepatic transaminase, Jaundice	OMIM:618549
Duodenal Atresia	Abnormality of the pancreas, Duodenal atresia, Annular pancreas	ORPHA:1203
Peroxisome Biogenesis Disorder 13A (Zellweger)	Hepatomegaly, Cholestasis, Jaundice	OMIM:614887
Genitopalatocardiac Syndrome	Hypospadias, Cleft palate, Renal cyst	OMIM:231060
Nemaline Myopathy 8	Respiratory failure, Death in infancy	OMIM:615348
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Respiratory insufficiency, Short stature, Renal hypoplasia/aplasia, Multiple renal cysts, Vesicou...	ORPHA:1166
Biliary, Renal, Neurologic, And Skeletal Syndrome	Esophageal varix, Splenomegaly, Anterior pituitary hypoplasia, Medullary nephrocalcinosis, Prolon...	OMIM:619534
Bile Acid Synthesis Defect, Congenital, 1	Hepatomegaly, Giant cell hepatitis, Acholic stools, Elevated hepatic transaminase, Splenomegaly, ...	OMIM:607765
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Myoglobinuria, Hepatic necrosis, Dicarboxylic aciduria, Hepatic steatosis, Acute hepatic failure,...	ORPHA:71212
Cholestasis, Progressive Familial Intrahepatic, 4	Hepatocellular carcinoma, Cirrhosis, Hepatic failure, Intrahepatic cholestasis, Portal hypertension	OMIM:615878
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Inflammation of the large intestine, Short stature, Increased hepatic glycogen content, Tubuloint...	ORPHA:79259
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly	OMIM:615895
Pontocerebellar Hypoplasia, Type 1C	Respiratory failure, Respiratory insufficiency	OMIM:616081
Gapo Syndrome	Tubulointerstitial fibrosis, Hepatomegaly, Breast hypoplasia, Hypoplastic nipples	OMIM:230740
Pontocerebellar Hypoplasia, Type 4	Respiratory failure, Death in infancy	OMIM:225753
3-Methylglutaconic Aciduria Type 7	Growth delay, Nephrocalcinosis, Pneumothorax, Renal cyst, Hepatic steatosis, Respiratory failure,...	ORPHA:445038
Beta-Thalassemia Major	Hepatomegaly, Hypoparathyroidism, Anisopoikilocytosis, Hepatic fibrosis, Hepatocellular carcinoma...	ORPHA:231214
Avian Influenza	Productive cough, Hypoxemia, Infectious encephalitis, Pneumonia, Tachypnea, Pneumothorax, Hepatit...	ORPHA:454836
Hemoglobin C-Beta-Thalassemia Syndrome	Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly	ORPHA:231242
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Respiratory failure, Short stature	OMIM:600561
Gillessen-Kaesbach-Nishimura Syndrome	Polycystic kidney dysplasia, Periportal fibrosis	OMIM:263210
Joubert Syndrome 16	Nephronophthisis, Renal cyst	OMIM:614465
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymp...	OMIM:614470
Hodgkin Lymphoma	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:98293
Budd-Chiari Syndrome	Hepatomegaly, Esophageal varix, Ascites, Peritonitis, Malabsorption, Splenomegaly, Cirrhosis, Int...	ORPHA:131
Distal Trisomy 5Q	Hypospadias, Aplasia/Hypoplasia of the gallbladder, Cryptorchidism	ORPHA:96097
Propionic Acidemia	Hepatomegaly, Organic aciduria	ORPHA:35
Bile Acid Synthesis Defect, Congenital, 4	Hepatomegaly, Giant cell hepatitis, Elevated hepatic transaminase, Hepatic failure, Prolonged neo...	OMIM:214950
Pfapa Syndrome	Lymphadenopathy, Hepatomegaly, Malabsorption, Splenomegaly	ORPHA:42642
Peroxisome Biogenesis Disorder 5A (Zellweger)	Hepatomegaly, Cleft palate, Renal cyst, Intrahepatic biliary dysgenesis, Splenomegaly, Hepatosple...	OMIM:614866
Ceroid Lipofuscinosis, Neuronal, 10	Respiratory failure, Neonatal death, Apnea, Respiratory insufficiency	OMIM:610127
Igg4-Related Ophthalmic Disease	Sinusitis, Cholangitis, Abnormality of the anterior pituitary, Prostatitis, Retroperitoneal fibro...	ORPHA:449563
Leigh Syndrome	Hepatocellular necrosis	OMIM:256000
Congenital Muscular Dystrophy With Intellectual Disability	Respiratory failure, Cryptorchidism, Micropenis, Respiratory insufficiency	ORPHA:370968
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Obstructive sleep apnea, Central sleep apnea, Decreased liver function, Hepatic steatosis, Respir...	ORPHA:70472
Joubert Syndrome 20	Renal cyst, Respiratory insufficiency	OMIM:614970
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Hydronephrosis, Asplenia, Annular pancreas	ORPHA:210122
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly	OMIM:615085
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hepatomegaly, Left ventricular hypertrophy, Hepatic steatosis, Elevated circulating alanine amino...	OMIM:619048
Triosephosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Cholecystitis, Splenomegaly	OMIM:615512
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Anemia, Splenomegaly, Hypersplenism, Thrombocytopenia	OMIM:610539
Neuromyelitis Optica Spectrum Disorder	Respiratory failure, Functional abnormality of the bladder, Myelitis, Optic neuritis	ORPHA:71211
Vacterl Association With Hydrocephalus	Respiratory failure, Renal hypoplasia, Stillbirth, Respiratory insufficiency	OMIM:276950
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Increased urinary potassium, Decreased glomerular filtration rate, Tubulointerstitial fibrosis, R...	OMIM:602522
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Hepatic failure, Hepatic steatosis	OMIM:617872
Immunodeficiency 69	Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia	OMIM:618963
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Esophageal neoplasm, Hepatomegaly, Abnormal large intestine morphology, Ascites	ORPHA:2198
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Splenomegaly, Cholestasis, Portal hypertension, Jaundice	ORPHA:59303
Neutral Lipid Storage Disease With Myopathy	Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly	OMIM:610717
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Multicystic kidney dysplasia	ORPHA:3270
Trimethylaminuria	Anemia, Neutropenia, Splenomegaly	OMIM:602079
Hereditary Hemorrhagic Telangiectasia	Hematuria, Cholelithiasis, Nephrolithiasis, Cirrhosis, Hepatic failure, Cholecystitis, Portal hyp...	ORPHA:774
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Pyloric stenosis, Abnormality of endocrine pancreas physiology, Hypospadias, Horseshoe kidney, Re...	ORPHA:93111
Dpm1-Cdg	Hepatomegaly, High, narrow palate, Hepatic fibrosis, Hepatic steatosis, Hepatosplenomegaly, Eleva...	ORPHA:79322
Bile Acid Synthesis Defect, Congenital, 2	Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Steatorrhea, Hepatic failure, Intrahep...	OMIM:235555
Trichohepatoenteric Syndrome 1	Hypospadias, Hepatomegaly, Villous atrophy, Hepatic fibrosis, Bifid uvula, Abnormality of the pan...	OMIM:222470
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Renal insufficiency	ORPHA:28
Severe Neurodegenerative Syndrome With Lipodystrophy	Cirrhosis, Hepatic steatosis, Respiratory failure, Hepatomegaly	ORPHA:363400
Perlman Syndrome	Abnormal pancreas morphology, Hepatomegaly, Cryptorchidism, High, narrow palate	ORPHA:2849
Alg1-Cdg	Nephrotic syndrome, Decreased liver function, Respiratory failure, Renal insufficiency, Abnormali...	ORPHA:79327
Pentalogy Of Cantrell	Hypospadias, Renal agenesis, Renal dysplasia, Absent gallbladder, Polysplenia	ORPHA:1335
Dysplastic Cortical Hyperostosis	Abnormality of the urinary system, Hepatomegaly, Splenomegaly	ORPHA:2204
Autoimmune Hemolytic Anemia, Cold Type	Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly	ORPHA:228312
Metachromatic Leukodystrophy	Abnormal gallbladder morphology, Urinary incontinence, Neoplasm of the gallbladder, Hemobilia	ORPHA:512
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24	Biliary atresia	ORPHA:565899
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Respiratory failure, Apnea, Respiratory insufficiency	OMIM:613869
Birt-Hogg-Dube Syndrome	Renal cell carcinoma, Renal cyst, Large intestinal polyposis, Renal neoplasm, Colon cancer	OMIM:135150
Meckel Syndrome, Type 10	Hypospadias, Micropenis, Cleft palate, Renal cyst	OMIM:614175
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Anemia, Splenomegaly, Steatorrhea, Anemia of inadequate production, Exocrine pancre...	OMIM:612714
Peroxisome Biogenesis Disorder 2A (Zellweger)	Hepatomegaly, Intrauterine growth retardation, Aminoaciduria, Hypoplasia of the thymus, Apnea, In...	OMIM:214110
Lysinuric Protein Intolerance	Tubulointerstitial nephritis, Oroticaciduria, Decreased glomerular filtration rate, Decreased res...	ORPHA:470
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia, Jaundice	OMIM:185000
Thanatophoric Dysplasia, Glasgow Variant	Hepatosplenomegaly, Neonatal death	OMIM:273680
Genitopalatocardiac Syndrome	Hypospadias, Abnormality of the gallbladder, Abnormality of mesentery morphology, Multicystic kid...	ORPHA:2075
Joubert Syndrome 7	Central apnea, Tachypnea, Nephronophthisis, Renal cyst, Episodic tachypnea, Neonatal breathing dy...	OMIM:611560
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Renal hypoplasia/aplasia, Renal insufficiency, Ascites	ORPHA:2123
Trisomy X	Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:3375
Harderoporphyria	Hepatomegaly, Splenomegaly, Increased urinary porphobilinogen, Prolonged neonatal jaundice, Incre...	OMIM:618892
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Intrauterine growth retardation, Respiratory insufficiency, Splenomegaly, Hepatospl...	OMIM:610333
Generalized Pseudohypoaldosteronism Type 1	Cholelithiasis	ORPHA:171876
Carcinoid Syndrome	Elevated hepatic transaminase, Hepatic necrosis	ORPHA:100093
Gaucher Disease Type 2	Hepatomegaly, Splenomegaly	ORPHA:77260
Leber Congenital Amaurosis 1	Hepatomegaly, Hyperthreoninuria	OMIM:204000
Hereditary Elliptocytosis	Prolonged neonatal jaundice, Jaundice, Cholelithiasis, Splenomegaly	ORPHA:288
Sickle Cell Anemia	Abnormality of the spleen, Pigment gallstones, Cholestasis	ORPHA:232
Bardet-Biedl Syndrome 1	Abnormality of the ovary, High, narrow palate, High palate, Aganglionic megacolon, Hepatic fibros...	OMIM:209900
Axial Mesodermal Dysplasia Spectrum	Abnormality of the spleen, Abnormal intestine morphology, Abnormality of the ureter, Hydronephros...	ORPHA:1834
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Decreased proportion of class-switched memory B cells, Celiac disease, Decreased pr...	OMIM:619375
8P Inverted Duplication/Deletion Syndrome	Hydronephrosis, Abnormality of the urinary system, Aplasia/Hypoplasia of the gallbladder, Micrope...	ORPHA:96092
Cimdag Syndrome	Microvesicular hepatic steatosis, Hepatomegaly, Cholelithiasis	OMIM:619273
Lipodystrophy, Congenital Generalized, Type 3	Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly	OMIM:612526
Say Syndrome	Cystic renal dysplasia, Cleft palate, Proximal renal tubular acidosis	OMIM:181180
Jeune Syndrome	Respiratory insufficiency, Short stature, Nephronophthisis, Abnormality of the liver, Nephropathy...	ORPHA:474
Mitochondrial Pyruvate Carrier Deficiency	Hepatomegaly, Organic aciduria	OMIM:614741
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Cryptorchidism, Micropenis, Decreased testicular size, Cholelithiasis	OMIM:300534
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Aplasia/Hypoplasia of the pancreas	ORPHA:65288
Ppoma	Hepatomegaly, Neoplasm of the pancreas, Cholelithiasis, Increased circulating gonadotropin level,...	ORPHA:97278
Hereditary Spherocytosis	Jaundice, Hepatomegaly, Cholelithiasis, Splenomegaly	ORPHA:822
Dehydrated Hereditary Stomatocytosis 2

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