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, Periportal fibrosis, Absence of renal corticomedullary differentiation, Splenomegal...	OMIM:263200
Autosomal Recessive Polycystic Kidney Disease	Cholangiocarcinoma, Hepatoblastoma, Cholestasis, Enlarged kidney, Spontaneous pneumothorax, Jaund...	ORPHA:731
Caroli Disease	Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Elevated ...	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	Renal cyst, Hepatic cysts	OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts	Renal cyst, Hepatic cysts	OMIM:617874
Nephronophthisis 19	Hepatomegaly, Nephronophthisis, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferat...	OMIM:616217
RCAD (renal cysts and diabetes)	Multiple renal cysts, Abnormality of the liver	DECIPHER:47
Nephronophthisis 13	Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Intrahepatic bile du...	OMIM:614377
Polycystic Liver Disease 2 With Or Without Kidney Cysts	Hepatomegaly, Hepatic cysts	OMIM:617004
Cholangiocarcinoma, Susceptibility To	Cholangiocarcinoma	OMIM:615619
Polycystic Kidney Disease 5	Polycystic kidney dysplasia, Hyperechogenic kidneys, Stage 5 chronic kidney disease	OMIM:617610
Gallbladder Disease 1	Cholelithiasis, Pancreatitis, Cholestasis, Cholecystitis, Elevated hepatic transaminase, Hepatic ...	OMIM:600803
Cholestasis, Progressive Familial Intrahepatic, 3	Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Intrahepatic...	OMIM:602347
Renal Dysplasia, Cystic, Susceptibility To	Cystic renal dysplasia, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Vesicourete...	OMIM:601331
Nephronophthisis 20	Renal cyst, Renal insufficiency, Nephronophthisis, Stage 5 chronic kidney disease	OMIM:617271
Meckel Syndrome, Type 3	Hepatomegaly, Cleft palate, Multicystic kidney dysplasia, Malformation of the hepatic ductal plat...	OMIM:607361
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Decreased liver function, Polycystic kidney dysplasia, Hepatic cysts	OMIM:600666
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Periportal fibrosis, Absence of renal corticomedullary differentiation, Splenomegal...	OMIM:263200
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Campomelia, Cumming Type	Polycystic liver disease, Polycystic kidney dysplasia, Polysplenia, Pancreatic cysts	OMIM:211890
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease	Chronic kidney disease, Cholestatic liver disease, Nephropathy, Abnormal tubulointerstitial morph...	OMIM:602114
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Sclerosing cholangitis, Cholestasis, Duct...	OMIM:617394
Biliary Atresia, Extrahepatic	Hepatomegaly, Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Extrahepatic biliary...	OMIM:210500
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Splenomegaly, Intestinal malrotation, Cirrhosis, Pancreatic fibrosis, Hyperechogeni...	OMIM:208540
Senior-Loken Syndrome 8	Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, In...	OMIM:616307
Congenital Anomalies Of Kidney And Urinary Tract 3	Renal cyst, Vesicoureteral reflux, Ectopic kidney, Hydronephrosis	OMIM:618270
Hepatorenocardiac Degenerative Fibrosis	Reduced renal corticomedullary differentiation, Cirrhosis, Hepatosplenomegaly, Hepatocellular car...	OMIM:619902
Congenital Bile Acid Synthesis Defect Type 3	Hepatic failure, Cirrhosis, Hepatosplenomegaly, Elevated circulating aspartate aminotransferase c...	ORPHA:79302
Fetal Cytomegalovirus Syndrome	Anemia, Hepatomegaly, Splenomegaly	ORPHA:294
Nphp3-Related Meckel-Like Syndrome	Abnormal biliary tract morphology, Multicystic kidney dysplasia, Abnormality of the pancreas, Ren...	ORPHA:3032
Glycogen Storage Disease Ixc	Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Elevated hepatic trans...	OMIM:613027
Meckel Syndrome, Type 7	Hepatosplenomegaly, Multicystic kidney dysplasia, Cholestasis, Multiple glomerular cysts, Portal ...	OMIM:267010
Nephronophthisis 3	Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Hepatic fibrosis,...	OMIM:604387
Meckel Syndrome, Type 6	Aplasia of the bladder, Cleft palate, Hepatic cysts, Absent gallbladder, Renal cyst, Hepatic fibr...	OMIM:612284
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Hepatic...	OMIM:619658
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Stage 5 chronic kidney disease, Renal insufficiency, Decreased glomerular filtration rate, Hepati...	OMIM:618061
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Cirrhosis, Elevated circulating aspartate aminotransferase concentration, Sclerosin...	OMIM:619662
Autosomal Recessive Polycystic Kidney Disease	Cholangiocarcinoma, Hepatoblastoma, Cholestasis, Enlarged kidney, Spontaneous pneumothorax, Jaund...	ORPHA:731
Hyperbiliverdinemia	Cholelithiasis, Decreased liver function, Green urine, Cholestasis	OMIM:614156
Isolated Polycystic Liver Disease	Polycystic liver disease, Hepatomegaly, Multiple renal cysts, Abnormality of the pancreas	ORPHA:2924
Autoinflammation, Immune Dysregulation, And Eosinophilia	Asthma, Nephrotic syndrome, Eosinophilic liver infiltration, Short stature, Hepatosplenomegaly, A...	OMIM:618999
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts	OMIM:173900
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Hanac Syndrome	Renal insufficiency, Hematuria, Multiple renal cysts	ORPHA:73229
Congenital Disorder Of Glycosylation, Type Icc	Hepatomegaly	OMIM:301031
Glycine N-Methyltransferase Deficiency	Elevated hepatic transaminase, Hepatomegaly	OMIM:606664
Splenoportal Vascular Anomalies	Splenomegaly, Cirrhosis, Hepatic fibrosis, Ascites, Anomalous splenoportal venous system	OMIM:271500
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Polycystic liver disease, Renal cyst, Ascites	OMIM:174050
Autosomal Dominant Polycystic Kidney Disease	Nephrolithiasis, Pituitary growth hormone cell adenoma, Chronic kidney disease, Decreased glomeru...	ORPHA:730
Meckel Syndrome, Type 5	Bile duct proliferation, Renal cyst, Cleft palate	OMIM:611561
Renal Hypodysplasia/Aplasia 3	Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Horseshoe kidney, Hydronephrosis, ...	OMIM:617805
Polysyndactyly With Cardiac Malformation	Renal cyst, Stillbirth, Hepatic cysts	OMIM:263630
Porphyria Cutanea Tarda, Type I	Porphyrinuria, Hepatic fibrosis	OMIM:176090
Dubin-Johnson Syndrome	Jaundice, Biliary tract abnormality	OMIM:237500
Nephronophthisis-Like Nephropathy 1	Chronic pancreatitis, Renal tubular atrophy, Nephronophthisis, Hyperechogenic kidneys, Tubular ba...	OMIM:613159
Nephronophthisis 16	Periportal fibrosis, Nephronophthisis, Cholestasis, Enlarged kidney, Polycystic kidney dysplasia,...	OMIM:615382
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Chronic kidney disease, Nephritis, Short stature, Polycystic liver disease, Pancreatic fibrosis, ...	OMIM:208500
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Periportal fibrosis	OMIM:213010
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic fibrosis, Hepatomegaly, Splenomegaly, Hepatic failure	OMIM:616719
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Hepatic failure, Splenomegaly, Iron deficiency anemia, Elevated hepatic transaminas...	OMIM:616278
Caroli Syndrome	Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Hepatic failure, Cirrhosis, Abnormality of the ki...	ORPHA:480520
Meckel Syndrome, Type 2	Cleft palate, Intestinal malrotation, Renal cyst, Meningocele, Bile duct proliferation	OMIM:603194
Mirizzi Syndrome	Cholelithiasis, Dark urine, Pancreatitis, Jaundice, Elevated hepatic transaminase, Cholesterol ga...	ORPHA:521219
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Recurrent urinary tract infections, Multiple renal cysts, Hepatic cysts, Polycystic...	OMIM:613095
Protoporphyria, Erythropoietic, X-Linked	Cholelithiasis, Elevated hepatic transaminase	OMIM:300752
Retinitis Pigmentosa 89	Micronodular cirrhosis, Intrahepatic bile duct dilatation, Hepatosplenomegaly, Esophageal varix, ...	OMIM:618955
Cystic Echinococcosis	Abnormality of the testis size, Cholestatic liver disease, Hepatomegaly, Ovarian cyst, Peritoneal...	ORPHA:400
Joubert Syndrome 6	Bile duct proliferation, Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease	OMIM:610688
Campomelia, Cumming Type	Hepatomegaly, Cleft palate, Multicystic kidney dysplasia, Multiple renal cysts, Abnormality of th...	ORPHA:1318
Nephronophthisis 9	Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613824
Hemochromatosis, Type 2B	Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Hepatic fibrosis, Anemia	OMIM:613313
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Hiatus hernia, Splenomegaly, Cholestasis, Pancreatic hypoplasia, Hepatitis, Polycys...	OMIM:610199
Gcgr-Related Hyperglucagonemia	Cholelithiasis, Abnormal biliary tract morphology, Neoplasm of the pancreas	ORPHA:438274
Parenteral Nutrition-Associated Cholestasis	Cholelithiasis, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Elevated hepatic transami...	ORPHA:567983
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, Abnormality of the kidney, Hepatocel...	ORPHA:369
Low Phospholipid-Associated Cholelithiasis	Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang...	ORPHA:69663
Fibrosclerosis, Multifocal	Thyroiditis, Retroperitoneal fibrosis, Sclerosing cholangitis, Abnormality of the liver	OMIM:228800
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Hypercalciuria, Low-molecular-wei...	OMIM:310468
Neonatal Hemochromatosis	Prolonged neonatal jaundice, Abnormal localization of kidney, Congenital hepatic fibrosis	ORPHA:446
Isolated Biliary Atresia	Decreased liver function, Hepatomegaly, Periportal fibrosis, Dark yellow urine, Splenomegaly, Cir...	ORPHA:30391
Fadd-Related Immunodeficiency	Decreased liver function, Hepatic fibrosis	ORPHA:306550
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Portal inflammation, Elevated circulating alanine aminotransferase concentration, Hepatic bridgin...	OMIM:613759
Caroli Disease	Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Elevated ...	ORPHA:53035
Gallbladder Disease 4	Cholelithiasis	OMIM:611465
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Stage 5 chronic kidney disease, Hepatic cysts	OMIM:613819
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Cystic renal dysplasia, Cholestasis, Enlarged kidney, Hepatic fibrosis, Stillbirth,...	OMIM:615415
Congenital Megacalycosis	Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg...	ORPHA:93109
Cholestasis, Progressive Familial Intrahepatic, 11	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:619874
Meckel Syndrome, Type 4	Bile duct proliferation, Renal cyst, Cleft palate, Meningocele	OMIM:611134
Alveolar Echinococcosis	Abnormality of bladder morphology, Decreased liver function, Abnormal spleen morphology, Hepatic ...	ORPHA:284
Senior-Loken Syndrome 9	Nephronophthisis, Cholestasis, Tubulointerstitial nephritis, Hepatic fibrosis, Stage 5 chronic ki...	OMIM:616629
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Cystic renal dysplasia, Hypoplasia of the s...	OMIM:200995
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi...	OMIM:613092
Benign Recurrent Intrahepatic Cholestasis	Cholelithiasis, Cholestatic liver disease, Pancreatitis, Cirrhosis, Hepatocellular carcinoma, Ele...	ORPHA:65682
Immunodeficiency, Common Variable, 6	Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat...	OMIM:613496
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly	ORPHA:79281
Hemochromatosis, Neonatal	Hepatocellular necrosis, Hepatic failure, Cirrhosis, Cholestasis, Hepatic fibrosis, Prolonged neo...	OMIM:231100
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Jaundice, Splenomegaly	OMIM:224100
Peroxisome Biogenesis Disorder 6A (Zellweger)	Decreased liver function, Renal cyst, Hepatomegaly	OMIM:614870
Coach Syndrome 2	Hyperechogenic kidneys, Congenital hepatic fibrosis, Elevated hepatic transaminase, Hepatic fibro...	OMIM:619111
Immunodeficiency 56	Chronic hepatitis due to cryptosporidium infection, Hepatic failure, Cirrhosis, Recurrent sinusit...	OMIM:615207
Bardet-Biedl Syndrome 10	Abnormality of the kidney, Renal cyst, Renal insufficiency	OMIM:615987
Butyrylcholinesterase Deficiency	Respiratory failure, Abnormality of the liver, Respiratory failure requiring assisted ventilation	ORPHA:132
Hyperinsulinemic Hypoglycemia, Familial, 2	Pancreatic islet-cell hyperplasia, Nesidioblastosis	OMIM:601820
Glycogen Storage Disease Ixb	Increased hepatic glycogen content, Hepatomegaly	OMIM:261750
Glycogen Storage Disease Iv	Hepatic failure, Cirrhosis, Hepatosplenomegaly, Tubulointerstitial fibrosis, Portal hypertension	OMIM:232500
Senior-Loken Syndrome	Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis, Congenital hepatic fibr...	ORPHA:3156
Senior-Boichis Syndrome	Renal atrophy, Chronic kidney disease, Reduced renal corticomedullary differentiation, Cirrhosis,...	ORPHA:84081
Axial Osteomalacia	Polycystic liver disease, Renal cyst	OMIM:109130
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Hepatomegaly, Micronodular cirrhosis, Microvesicular hepatic steatosis, Hepatic failure, Elevated...	OMIM:203700
Citrullinemia, Type Ii, Adult-Onset	Pancreatitis, Hepatocellular carcinoma, Argininosuccinic aciduria, Elevated circulating alanine a...	OMIM:603471
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly	ORPHA:46532
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies	Renal cyst, Multinodular goiter	OMIM:138790
Cholestasis With Gallstone, Ataxia, And Visual Disturbance	Cholelithiasis, Giant cell hepatitis, Jaundice	OMIM:214980
Immune Deficiency Disease	Fulminant hepatitis, Cholangitis	OMIM:242850
Hepatic Veno-Occlusive Disease	Hepatomegaly, Jaundice, Elevated hepatic transaminase, Renal insufficiency, Respiratory failure	ORPHA:890
Cholestasis, Benign Recurrent Intrahepatic, 2	Cholelithiasis, Hepatomegaly, Jaundice, Intrahepatic cholestasis	OMIM:605479
Hemoglobin H Disease	Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin	OMIM:613978
Hemochromatosis Type 4	Cirrhosis, Hepatic steatosis, Congenital hepatic fibrosis	ORPHA:139491
African Iron Overload	Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Peritonitis,...	ORPHA:139507
Autoinflammatory-Pancytopenia Syndrome	Cholestatic liver disease, Intestinal inflammation, Hepatosplenomegaly, Membranoproliferative glo...	OMIM:619858
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Cirrhosis, Sclerosing cholangitis, Cholestasis, Elevated hepatic trans...	ORPHA:562639
Retinitis Pigmentosa 59	Hepatomegaly, Micropenis, Elevated hepatic transaminase, Renal insufficiency, Cryptorchidism	OMIM:613861
Autoimmune Hepatitis	Viral hepatitis, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Sclerosing cholangitis, Fulmi...	ORPHA:2137
Autosomal Erythropoietic Protoporphyria	Cholelithiasis, Decreased liver function, Cirrhosis	ORPHA:79278
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Abnormality of the kidney, Cystic renal dysplasia, Ectopic kidney, Cryptorchidism	OMIM:613730
Pediatric Hepatocellular Carcinoma	Hepatic fibrosis, Hepatomegaly, Hepatic necrosis	ORPHA:33402
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Hepatosplenomegaly, Hepatic fibrosis, Acute hepatic failure	ORPHA:466794
Ketamine-Induced Biliary Dilatation	Abnormal biliary tract morphology, Dysuria	ORPHA:293807
Caroli Disease, Isolated	Cholangitis, Hepatomegaly, Liver abscess, Portal hypertension	OMIM:600643
Nephronophthisis 11	Renal tubular atrophy, Nephronophthisis, Polyuria, Tubular basement membrane disintegration, Hepa...	OMIM:613550
Nephrotic Syndrome, Type 6	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Tubulointerstitial fibrosis	OMIM:614196
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities	Respiratory insufficiency, Neonatal death, Renal cyst, Renal hypoplasia, Respiratory failure	OMIM:228940
Igg4-Related Thyroid Disease	Abnormality of the pituitary gland, Sialadenitis, Euthyroid goiter, Pancreatic fibrosis, Sclerosi...	ORPHA:64744
Bardet-Biedl Syndrome 16	Respiratory distress, Renal agenesis, Abnormality of the kidney, Renal dysplasia, Renal cyst, Ren...	OMIM:615993
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly	OMIM:206400
Nephronophthisis 1	Renal tubular atrophy, Nephronophthisis, Polyuria, Hyposthenuria, Tubulointerstitial fibrosis, Tu...	OMIM:256100
Hardikar Syndrome	Hepatomegaly, Hepatic failure, Hypoplasia of the bladder, Cholestasis, Bladder exstrophy, Esophag...	OMIM:301068
Glycogen Storage Disease Ib	Hepatomegaly, Pancreatitis, Splenomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Inflamma...	OMIM:232220
Rhyns Syndrome	Hypopituitarism, Multicystic kidney dysplasia, Abnormality of the liver, Nephronophthisis	ORPHA:140976
Glycogen Storage Disease Vii	Cholelithiasis, Jaundice, Exercise-induced myoglobinuria	OMIM:232800
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Bare Lymphocyte Syndrome, Type Ii	Colitis, Viral hepatitis, Recurrent urinary tract infections, Biliary tract abnormality, Chronic ...	OMIM:209920
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Immunodeficiency 92	Osteomyelitis, Hepatomegaly, Sclerosing cholangitis, Cholangitis, Pneumonia, Esophagitis	OMIM:619652
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Hepatic failure, Steatorrhea, Cirrhosis, Renal cyst, Villous atrophy, Hepatic fibro...	OMIM:602579
Primary Hepatic Neuroendocrine Carcinoma	Neoplasm of the liver, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Hepatic cys...	ORPHA:100085
Coach Syndrome 1	Abnormal abdomen morphology, Hepatomegaly, Intrahepatic bile duct dilatation, Splenomegaly, Nephr...	OMIM:216360
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multinodular goiter, Multicystic kidney dysplasia	ORPHA:2091
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Pheochromocytoma, Hepatic hemangioma, Multiple renal cysts, Renal cell ...	OMIM:193300
Lysosomal Acid Lipase Deficiency	Hepatomegaly, Hepatic failure, Steatorrhea, Elevated circulating aspartate aminotransferase conce...	OMIM:278000
Aa Amyloidosis	Chronic kidney disease, Nephrotic syndrome, Hepatomegaly, Abnormality of the kidney, Nephropathy,...	ORPHA:85445
Nephronophthisis 4	Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal corticomedu...	OMIM:606966
Alpha-Thalassemia	Cholelithiasis, Jaundice, Hypersplenism, Splenomegaly	ORPHA:846
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Steatorrhea, Pancreatic fibrosis, Hepatic fibrosis, Hepatic steatosis	OMIM:616263
Sea-Blue Histiocyte Disease	Sea-blue histiocytosis, Splenomegaly, Cirrhosis, Elevated circulating aspartate aminotransferase ...	OMIM:269600
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Plin1-Related Familial Partial Lipodystrophy	Polycystic ovaries, Hepatic steatosis, Hepatic fibrosis	ORPHA:280356
Congenital Bile Acid Synthesis Defect Type 1	Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Elevated hepatic...	ORPHA:79301
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Martinez-Frias Syndrome	Annular pancreas, Hypospadias, Pancreatic hypoplasia, Hypoplasia of the gallbladder, Extrahepatic...	OMIM:601346
Protoporphyria, Erythropoietic, 1	Cholelithiasis, Hepatic failure	OMIM:177000
Combined Oxidative Phosphorylation Deficiency 52	Pancreatitis, Aminoaciduria, Elevated circulating aspartate aminotransferase concentration, Eleva...	OMIM:619386
Adams-Oliver Syndrome 6	Splenomegaly, Renal hypoplasia, Hepatic fibrosis, Esophageal varix, Portal hypertension	OMIM:616589
Glycogen Storage Disease Iii	Elevated hepatic transaminase, Hepatic fibrosis, Hepatomegaly	OMIM:232400
Tyrosinemia Type 1	Hepatocellular carcinoma, Hepatomegaly, Splenomegaly, Acute hepatic failure	ORPHA:882
Hepatocellular Carcinoma	Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis	OMIM:114550
Pearson Marrow-Pancreas Syndrome	Hypoplastic anemia, Exocrine pancreatic insufficiency, Neutropenia, Hepatomegaly, Sideroblastic a...	OMIM:557000
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Esophageal varix, Portal hypertension	OMIM:617068
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Hepatomegaly	OMIM:605911
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Cholelithiasis, Respiratory distress, Hepatomegaly, Cryptorchidism, Micropenis, Eczema, Pancreati...	ORPHA:83617
Arima Syndrome	Occipital meningocele, Hepatomegaly, Renal tubular atrophy, Nephronophthisis, Tubulointerstitial ...	OMIM:243910
Kaposiform Lymphangiomatosis	Lymphangioma, Splenomegaly, Hepatosplenomegaly, Abnormal spleen morphology, Abnormality of the ly...	ORPHA:464329
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n...	OMIM:602088
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Cholelithiasis, Splenomegaly, Cholecystitis, Pigment gallstones, Jaundice	OMIM:613470
Disorder Of Bile Acid Synthesis	Elevated hepatic transaminase, Abnormality of the liver, Cholestasis, Biliary tract abnormality	ORPHA:79168
Peroxisome Biogenesis Disorder 4A (Zellweger)	Renal cyst, Hepatomegaly, Respiratory failure, Death in infancy	OMIM:614862
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Chronic kidney disease, Hepatomegaly, Nephronophthisis, Splenomegaly, Hepatic failure, Cholestasi...	OMIM:615630
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Jaundice, Renal cortical cysts, Glycosuria, Neonatal death, Generalized aminoacidur...	OMIM:231680
Meckel Syndrome	Aplasia/Hypoplasia of the tongue, Cleft palate, Pancreatic fibrosis, Accessory spleen, Multicysti...	ORPHA:564
Peroxisome Biogenesis Disorder 10A (Zellweger)	High palate, Hepatomegaly	OMIM:614882
Nephronophthisis 18	Renal tubular atrophy, Nephronophthisis, Cholestasis, Thickened glomerular basement membrane, Tub...	OMIM:615862
Joubert Syndrome 9	Episodic tachypnea, Apnea, Hepatic fibrosis, Stage 5 chronic kidney disease	OMIM:612285
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Choles...	OMIM:620010
Combined Oxidative Phosphorylation Deficiency 37	Decreased liver function, Macrovesicular hepatic steatosis, Elevated hepatic transaminase, 3-Meth...	OMIM:618329
Peroxisome Biogenesis Disorder 3A (Zellweger)	Polycystic kidney dysplasia, Hepatomegaly	OMIM:614859
Lambert Syndrome	Hypospadias, Jaundice, Intrahepatic biliary atresia	OMIM:245550
Pancreatic Colipase Deficiency	Cholelithiasis, Exocrine pancreatic insufficiency	ORPHA:309108
Hyperbilirubinemia, Shunt, Primary	Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid...	OMIM:237800
Crigler-Najjar Syndrome Type 1	Biliary tract abnormality, Abnormality of the liver, Prolonged neonatal jaundice	ORPHA:79234
Cholestasis, Progressive Familial Intrahepatic, 1	Cholelithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Jaundice, Intrahepatic cholestasis with ep...	OMIM:211600
Erythrocytosis, Familial, 8	Cholelithiasis, Cholecystitis, Jaundice, Splenomegaly	OMIM:222800
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ...	OMIM:174000
D-Bifunctional Protein Deficiency	High palate, Hepatomegaly, Splenomegaly, Cholestasis, Elevated hepatic transaminase, Renal cyst, ...	OMIM:261515
Hepatoportal Sclerosis	Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ...	ORPHA:64743
Rft1-Cdg	Hepatomegaly	ORPHA:244310
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Hepatomegaly, Splenomegaly, Hemoglobinuria, Hepatitis, Jaundice	OMIM:194380
Reticuloendotheliosis, X-Linked	Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice	OMIM:312500
Budd-Chiari Syndrome	Cirrhosis, Hepatocellular carcinoma	OMIM:600880
Mitochondrial Complex I Deficiency, Nuclear Type 30	Intrauterine growth retardation, Respiratory failure, Neonatal death	OMIM:301021
Cholangiocarcinoma	Acholic stools, Biliary tract neoplasm, Jaundice	ORPHA:70567
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Micronodular cirrhosis, Jaundice, Splenomegaly, Malformation of the hepatic ductal ...	OMIM:619849
Laurence-Moon Syndrome	Hypoplasia of penis, Congenital hepatic fibrosis, Renal insufficiency, Displacement of the urethr...	ORPHA:2377
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Jaundice, Cholangitis	OMIM:607626
Joubert Syndrome 35	Multicystic kidney dysplasia, Renal fibrosis, Recurrent urinary tract infections, Hydronephrosis	OMIM:618161
Hemochromatosis Type 2	Elevated hepatic transaminase, Abnormality of endocrine pancreas physiology, Congenital hepatic f...	ORPHA:79230
Encephalopathy Due To Prosaposin Deficiency	Respiratory insufficiency, Hepatomegaly, Death in infancy, Splenomegaly	ORPHA:139406
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic...	OMIM:603902
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Periportal fibrosis, Splenomegaly,...	OMIM:251880
Hereditary Amyloidosis With Primary Renal Involvement	Decreased liver function, Nephrotic syndrome, Hepatomegaly, Renal tubular atrophy, Decreased glom...	ORPHA:85450
Medullary cystic kidney disease 2	Renal tubular atrophy, Multiple renal cysts, Tubulointerstitial nephritis, Multiple small medulla...	OMIM:603860
Nephronophthisis 14	Polycystic kidney dysplasia, Nephronophthisis	OMIM:614844
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Asthma, Chronic gastritis, Recurrent otitis media, Viral hepatitis, Skin rash, Rheumatoid arthrit...	ORPHA:183675
Infantile Liver Failure Syndrome 3	Hepatomegaly, Splenomegaly, Acute hepatic failure, Short stature, Death in childhood, Cholestasis...	OMIM:618641
Amyloidosis, Familial Visceral	Nephrotic syndrome, Hepatomegaly, Splenomegaly, Nephropathy, Hematuria, Cholestasis, Proteinuria	OMIM:105200
Liver Disease, Severe Congenital	Hydrocele testis, Chronic gastritis, Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic fai...	OMIM:619991
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Thyroiditis, Acute hepatic failure, Cirrhosis, Hepatosplenomegaly, Chronic lung disease, Hepatiti...	ORPHA:228426
Psoriasis 14, Pustular	Psoriasiform dermatitis, Oligoarthritis, Pustule, Cholangitis	OMIM:614204
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Cholelithiasis, Cholecystitis, Jaundice, Splenomegaly	OMIM:235700
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Renal angiomyolipoma, Polycystic kidney dysplasia	OMIM:600273
Orofaciodigital Syndrome I	Myelomeningocele, High palate, Cleft palate, Ovarian cyst, Bifid tongue, Lobulated tongue, Hepati...	OMIM:311200
Short Rib-Polydactyly Syndrome	Urogenital sinus anomaly, Intrauterine growth retardation, Disproportionate short-limb short stat...	ORPHA:1505
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Myoglobinuria, Dicarboxylic aciduria, Hepatic necrosis, Hepatic steatosis	OMIM:231530
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid...	OMIM:133180
Immunodeficiency 54	Intrauterine growth retardation, Adrenocorticotropic hormone excess, Hepatomegaly, Splenomegaly, ...	OMIM:609981
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Abnormality of the liver	ORPHA:1980
Peroxisome Biogenesis Disorder 1B	Hepatomegaly, Cirrhosis, Renal cyst, Hepatic fibrosis, Hyperoxaluria	OMIM:601539
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Decreased liver function, Intrauterine growth retardation, Elevated hepatic transaminase, Duplica...	OMIM:617093
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Decreased liver function, Microvesicular hepatic steatosis, Aminoaciduria, Cholestasis, Elevated ...	OMIM:124000
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hepatomegaly	OMIM:615158
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Apnea, Lipid accumulation in hepatocytes, Hepatomegaly, Long-chain dicarboxylic aciduria, Hepatic...	OMIM:608836
Hyperparathyroidism 2 With Jaw Tumors	Nephrolithiasis, Parathyroid adenoma, Parathyroid carcinoma, Nephroblastoma, Renal cortical adeno...	OMIM:145001
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Intrauterine growth retardation, Methylmalonic aciduria, Respiratory insufficiency, Elevated circ...	OMIM:245400
Pearson Syndrome	Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic failure, Steatorrhea, Median cleft lip a...	ORPHA:699
Systemic Primary Carnitine Deficiency	Elevated hepatic transaminase, Hepatomegaly	ORPHA:158
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Cleft palate, Intestinal malrotation, Pancreatic fibrosis, Hamartoma of tongue, Polycystic kidney...	OMIM:263520
Alpha-1-Antitrypsin Deficiency	Nephrotic syndrome, Hepatomegaly, Hepatic failure, Hepatitis, Jaundice	ORPHA:60
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	High palate, Hepatomegaly, Nephronophthisis, Reduced renal corticomedullary differentiation, Macr...	OMIM:266920
Igg4-Related Kidney Disease	Abnormal ureter morphology, Pancreatitis, Urethritis, Lymphadenitis, Ureteral obstruction, Hematu...	ORPHA:449395
Cholestasis-Lymphedema Syndrome	Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Neonatal cho...	OMIM:214900
Alagille Syndrome 2	Cholestatic liver disease, Renal tubular acidosis, Hematuria, Cholestasis, Renal cyst, Renal hypo...	OMIM:610205
Spherocytosis, Type 1	Cholelithiasis, Jaundice, Splenomegaly	OMIM:182900
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly	OMIM:609016
Galactosemia Iii	Hepatomegaly, Aminoaciduria, Splenomegaly, Galactosuria, Jaundice	OMIM:230350
Peroxisome Biogenesis Disorder 8A (Zellweger)	Glossoptosis, Elevated circulating aspartate aminotransferase concentration, Hepatomegaly, Jaundice	OMIM:614876
Bardet-Biedl Syndrome 4	Abnormality of the kidney, Renal cyst, Cryptorchidism	OMIM:615982
Fanconi Anemia, Complementation Group O	Miscarriage, Short stature, Neonatal death, Renal cyst, Death in infancy, Hydronephrosis, Cryptor...	OMIM:613390
Mpi-Cdg	Decreased liver function, Hepatomegaly, Hepatic fibrosis, Protein-losing enteropathy, Portal hype...	ORPHA:79319
Galactose Epimerase Deficiency	Aminoaciduria, Hepatomegaly, Jaundice, Splenomegaly	ORPHA:79238
Bardet-Biedl Syndrome	Nephrotic syndrome, Hypoplasia of the ovary, Hypoplasia of penis, Multicystic kidney dysplasia, H...	ORPHA:110
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Respiratory insufficiency, Respiratory failure, Death in infancy, Central apnea	OMIM:611722
Immunodeficiency With Hyper-Igm, Type 1	Hepatomegaly, Chronic oral candidiasis, Splenomegaly, Cirrhosis, Chronic hepatitis, Sclerosing ch...	OMIM:308230
Dubin-Johnson Syndrome	Abnormal urinary color, Abnormal gastric mucosa morphology, Hepatomegaly, Biliary tract abnormali...	ORPHA:234
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Pancreatic fibrosis	OMIM:615503
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory insufficiency, Hepatomegaly, Respiratory failure, Death in infancy	OMIM:614299
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Respiratory arrest, Necrotizing enter...	OMIM:201475
Diaphanospondylodysostosis	Respiratory distress, Nephrogenic rest, Tracheomalacia, Abnormal liver lobulation, Respiratory in...	OMIM:608022
Cholestasis, Progressive Familial Intrahepatic, 6	Elevated hepatic transaminase, Intrahepatic cholestasis, Periportal fibrosis	OMIM:619484
Lymphoid Interstitial Pneumonia	Pulmonary venous hypertension, Hepatomegaly, Hypoxemia, Skin rash, Rheumatoid arthritis, Eczema, ...	ORPHA:79128
Glycosylphosphatidylinositol Biosynthesis Defect 1	Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Glycogen Storage Disease Vi	Increased hepatic glycogen content, Elevated hepatic transaminase, Hepatomegaly	OMIM:232700
Congenital Disorder Of Glycosylation, Type Iir	Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Jaundice, Hypospadias, Elevated h...	OMIM:301045
Beta-Thalassemia	Cholelithiasis, Hepatitis, Hepatomegaly, Splenomegaly	ORPHA:848
Renal Dysplasia	Enlarged kidney, Thickened glomerular basement membrane, Abdominal mass, Congenital posterior ure...	ORPHA:93108
Microsporidiosis	Keratitis, Pancreatitis, Urethritis, Lymphadenitis, Myocarditis, Biliary tract abnormality, Pneum...	ORPHA:2552
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Anal atresia, Eosinophilia, Lymphopenia, Hepatic cysts	OMIM:617425
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Intrauterine growth retardation, Hepatomegaly, Hypospadias, Abnormality of the kidney, 3-Methylgl...	ORPHA:1194
Progressive Familial Intrahepatic Cholestasis	Malabsorption, Hepatomegaly, Splenomegaly, Cholestasis, Jaundice	ORPHA:172
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb...	OMIM:615285
Spinal Muscular Atrophy, Type I	Death in childhood, Respiratory insufficiency, Respiratory failure	OMIM:253300
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Hepatomegaly, Splenomegaly, Cholecystitis, Jaundice	OMIM:266200
Immunodeficiency 104	Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly	OMIM:608971
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Aminoaciduria, Splenomegaly	ORPHA:417
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy	OMIM:618852
North American Indian Childhood Cirrhosis	Biliary cirrhosis, Portal hypertension, Prolonged neonatal jaundice	OMIM:604901
Multiple Symmetric Lipomatosis	Hepatomegaly	ORPHA:2398
Mitchell-Riley Syndrome	Annular pancreas, Biliary atresia, Cholestasis, Pancreatic hypoplasia, Absent gallbladder, Acholi...	OMIM:615710
Mantle Cell Lymphoma	Lymphadenopathy, Splenomegaly	ORPHA:52416
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma	Cirrhosis, Death in childhood, Neonatal death, Cholestasis, Hepatic fibrosis, Death in infancy, G...	OMIM:609313
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Elevat...	OMIM:619868
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Giant cell hepatitis, Hepatomegaly, Hepatic failure, Steatorrhea, Cholestasis, Elevat...	ORPHA:79303
Bile Acid Malabsorption, Primary, 2	Periportal fibrosis, Steatorrhea, Elevated circulating aspartate aminotransferase concentration, ...	OMIM:619481
Sickle Cell Anemia	Cholelithiasis, Hepatomegaly, Splenomegaly, Hematuria, Renal insufficiency, Jaundice	OMIM:603903
3-Methylglutaconic Aciduria Type 1	3-Methylglutaconic aciduria, Hepatomegaly	ORPHA:67046
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Short stature, Respiratory insufficiency, Multicystic kidney dysplasia, Congenital hepatic fibros...	ORPHA:2031
Red Cell Phospholipid Defect With Hemolysis	Reticulocytosis, Intermittent jaundice, Splenomegaly	OMIM:179700
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly	OMIM:607685
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency	Hepatomegaly, Renal tubular acidosis, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Myoglobi...	ORPHA:370
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Intrauterine growth retardation, Hepatic failure, Hepatosplenomegaly, Cholestasis, Elevated hepat...	ORPHA:541423
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Hepatomegaly, Median cleft palate	ORPHA:2432
Alport Syndrome	Nephrotic syndrome, Renal glomerular foam cells, Mesangial hypercellularity, Nephritis, Thickenin...	ORPHA:63
Interstitial Lung And Liver Disease	Hepatomegaly, Aminoaciduria, Hepatic failure, Cirrhosis, Respiratory insufficiency, Elevated circ...	OMIM:615486
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly	OMIM:183350
Cranioectodermal Dysplasia 2	High palate, Hepatomegaly, Cleft palate, Splenomegaly, Left ventricular hypertrophy, Cholestasis,...	OMIM:613610
Transaldolase Deficiency	Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Splenomegaly, Cirrhosis, Hepatosp...	OMIM:606003
Beta-Thalassemia Intermedia	Cholelithiasis, Decreased liver function, Hypoparathyroidism, Hepatomegaly, Splenomegaly, Cirrhos...	ORPHA:231222
Immunodeficiency By Defective Expression Of Mhc Class Ii	Acute otitis media, Sinusitis, Chronic hepatitis due to cryptosporidium infection, Skin rash, Scl...	ORPHA:572
Cystic Hamartoma Of Lung And Kidney	Multicystic kidney dysplasia	ORPHA:2111
Immunodeficiency 48	Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly	OMIM:269840
Interstitial Pneumonitis, Desquamative, Familial	Tubulointerstitial fibrosis	OMIM:263000
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h...	ORPHA:444463
Fanconi Renotubular Syndrome 5	Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis, Proteinuria, Stage 5 chronic kidney disease	OMIM:618913
Igg4-Related Submandibular Gland Disease	Abnormal pancreas morphology, Sialadenitis, Prostatitis, Abnormality of the kidney, Abnormal sali...	ORPHA:449432
Indomethacin Embryofetopathy	Abnormal renal tubule morphology, Respiratory insufficiency, Multicystic kidney dysplasia, Nephro...	ORPHA:1909
Cirrhosis, Familial	Cirrhosis, Hepatitis, Chronic active hepatitis	OMIM:118900
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Aspiration pneumonia, Abnormality of the urinary system, Cough, Respiratory failure requiring ass...	ORPHA:90117
Meckel Syndrome, Type 11	Polycystic kidney dysplasia	OMIM:615397
Glycogen Storage Disease Ia	Nephrolithiasis, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate, Short stature,...	OMIM:232200
Meckel Syndrome, Type 9	Multicystic kidney dysplasia	OMIM:614209
Thomas Syndrome	Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Cleft palate	ORPHA:3316
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies	Respiratory insufficiency, Respiratory failure	OMIM:208081
Biliary Cirrhosis, Primary, 1	Biliary cirrhosis	OMIM:109720
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Macrovesicular hepatic steatosis, Cholestasis, Acute hepatic steatosis, Hepatitis, Cholesterol ga...	ORPHA:209902
Mitochondrial Complex I Deficiency, Nuclear Type 18	Hydroureter, Respiratory failure, Death in infancy, Hydronephrosis	OMIM:618240
Inflammatory Pseudotumor Of The Liver	Abnormal liver sonography, Neoplasm of the liver, Cirrhosis, Elevated circulating aspartate amino...	ORPHA:90003
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Steatorrhea, Elevated hepatic transaminas...	OMIM:613812
Tuberous Sclerosis Complex	Respiratory distress, Pituitary adenoma, Chronic kidney disease, Parathyroid adenoma, Renal angio...	ORPHA:805
Combined Immunodeficiency-Enteropathy Spectrum	Intestinal atresia, Intestinal malrotation, Hypoplasia of the thymus, Peritoneal abscess, Hepatit...	ORPHA:436252
Aicardi-Goutieres Syndrome 9	Hepatomegaly, Micropenis, Left ventricular hypertrophy, Hepatosplenomegaly, Recurrent urinary tra...	OMIM:619487
Alpha-1-Antitrypsin Deficiency	Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Elevated hepatic transaminase, Gastric varix	OMIM:613490
Renal Hypodysplasia/Aplasia 4	Bilateral renal agenesis, Respiratory failure	OMIM:619887
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Elevated urinary catecholamines, Multiple renal cysts, Renal cell carci...	ORPHA:892
Cranioectodermal Dysplasia 1	High palate, Chronic kidney disease, Hepatomegaly, High, narrow palate, Hepatic failure, Stage 1 ...	OMIM:218330
Donohue Syndrome	Ovarian cyst, Cholestasis, Long penis, Pancreatic islet-cell hyperplasia, Hepatic fibrosis, Postn...	OMIM:246200
Combined Oxidative Phosphorylation Deficiency 4	Intrauterine growth retardation, Hepatomegaly, Respiratory failure, Death in infancy	OMIM:610678
Osteootohepatoenteric Syndrome	Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Ileoileal intussusception, Chol...	OMIM:619377
Galactose Mutarotase Deficiency	Decreased liver function, Hepatomegaly, Cholestasis	ORPHA:570422
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	High palate, Cleft palate, Hypospadias, Short uvula, Renal cyst, Polycystic kidney dysplasia, Hep...	OMIM:614091
Cholesteryl Ester Storage Disease	Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Esophageal varix, Jaundice	ORPHA:75234
Peroxisome Biogenesis Disorder 11A (Zellweger)	Elevated hepatic transaminase, Renal cyst, Decreased liver function, Multiple renal cysts	OMIM:614883
Avian Influenza	Respiratory distress, Miscarriage, Conjunctivitis, Nonproductive cough, Myelitis, Tachypnea, Coug...	ORPHA:454836
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Portal hypertension, Abnormalit...	ORPHA:1414
Multiple Acyl-Coa Dehydrogenase Deficiency	Decreased liver function, Hepatomegaly, 3-Methylglutaric aciduria, Acute pancreatitis, Elevated h...	ORPHA:26791
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Senior-Loken Syndrome 1	Impaired renal concentrating ability, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Th...	OMIM:266900
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosple...	OMIM:616860
Congenital Disorder Of Glycosylation, Type Iiw	Hepatomegaly, Splenomegaly, Membranoproliferative glomerulonephritis, Elevated circulating aspart...	OMIM:619525
Myotonic Dystrophy 1	Cholelithiasis, Testicular atrophy	OMIM:160900
Congenital Bile Acid Synthesis Defect Type 4	Cholelithiasis, Cholestatic liver disease, Giant cell hepatitis, Elevated hepatic transaminase	ORPHA:79095
Alg9-Cdg	Ureteral hypoplasia, Hepatomegaly, Periportal fibrosis, Hypoplasia of the ovary, Hypoplasia of th...	ORPHA:79328
Lower Limb Malformation-Hypospadias Syndrome	Hypospadias, Abnormality of the ureter, Abnormality of the spleen, Respiratory insufficiency	ORPHA:2487
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Hepatosplenome...	OMIM:616828
Developmental And Epileptic Encephalopathy 71	Respiratory insufficiency, Respiratory failure	OMIM:618328
Orofaciodigital Syndrome Type 1	High palate, Exocrine pancreatic insufficiency, Cleft palate, Multicystic kidney dysplasia, Abnor...	ORPHA:2750
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy	ORPHA:66661
Immunodeficiency 47	Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, Cirrhosis, Leukopenia, Accessory s...	OMIM:300972
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:86893
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatomegaly, Renal tubular acidosis, Splenomegaly, Cirrhosis, Myoglobinuria, Cholestasis, Hepato...	ORPHA:264580
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hepatomegaly, Hepatic failure, Abnormal mitochondrial morphology, Cholestasis, Elevated hepatic t...	OMIM:618528
Primary Sclerosing Cholangitis	Cholelithiasis, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Cholestasis, Chronic hepatic fail...	ORPHA:171
Alpha-Heavy Chain Disease	Malabsorption, Hepatomegaly, Splenomegaly, Abnormality of the small intestine, Anemia, Ascites, L...	ORPHA:100025
Renal Tubular Dysgenesis	Renotubular dysgenesis, Nephropathy, Multiple renal cysts, Proximal tubulopathy	ORPHA:3033
Combined Oxidative Phosphorylation Deficiency 11	Decreased liver function, Hepatomegaly, Renal tubular acidosis, Renal dysplasia, Renal cyst, Rena...	OMIM:614922
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Bifid uvula, Cyst of the ductus choledochus	OMIM:619480
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Anemia	OMIM:615234
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged polycystic ovarie...	ORPHA:90301
Combined Oxidative Phosphorylation Deficiency 51	Intrauterine growth retardation, Severe short stature, Aspiration pneumonia, Neonatal respiratory...	OMIM:619057
Meckel Syndrome, Type 10	Hypospadias, Renal cyst, Malformation of the hepatic ductal plate, Micropenis	OMIM:614175
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Asthma, Colitis, Pancreatitis, Inflammatory abnormality of the skin, Spleno...	ORPHA:3260
Mulibrey Nanism	Hepatomegaly	ORPHA:2576
Microgastria-Limb Reduction Defects Association	Unilateral renal agenesis, Splenogonadal fusion, Cystic renal dysplasia, Biliary tract abnormalit...	OMIM:156810
Combined Saposin Deficiency	Hepatomegaly, Splenomegaly	OMIM:611721
3-Methylglutaconic Aciduria, Type Viii	Apnea, 3-Methylglutaconic aciduria, Death in infancy, Growth delay, Respiratory failure	OMIM:617248
Peroxisome Biogenesis Disorder 12A (Zellweger)	Cholelithiasis, Elevated hepatic transaminase, Renal tubular dysfunction, Hepatic failure	OMIM:614886
Familial Partial Lipodystrophy, Köbberling Type	Polycystic ovaries, Hepatic steatosis, Pancreatitis, Hepatomegaly	ORPHA:79084
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Nephrotic syndrome, Hepatomegaly, Nephritis, Renal tubular atrophy, Splenom...	OMIM:617303
Congenital Arthrogryposis With Anterior Horn Cell Disease	Cryptorchidism, Respiratory failure, Neonatal death, Respiratory insufficiency due to muscle weak...	OMIM:611890
Dent Disease	Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Aminoaci...	ORPHA:1652
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Reduced vital capacity, Respiratory insufficiency, Reduced maximal inspiratory pressure, Abnormal...	ORPHA:266
Sandhoff Disease	Hepatomegaly, Splenomegaly	ORPHA:796
Coproporphyria, Hereditary	Hepatomegaly, Splenomegaly, Increased urinary porphobilinogen, Elevated urinary delta-aminolevuli...	OMIM:121300
Pancreas, Annular	Annular pancreas, High intestinal obstruction, Duodenal stenosis	OMIM:167750
Annular Pancreas	Annular pancreas, High intestinal obstruction, Duodenal stenosis	ORPHA:675
Cystic Fibrosis	Malabsorption, Exocrine pancreatic insufficiency, Hepatomegaly, Biliary cirrhosis	ORPHA:586
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
Meckel Syndrome, Type 1	Anal atresia, Cleft palate, Splenomegaly, Intestinal malrotation, Renal agenesis, Abnormality of ...	OMIM:249000
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Renal tubular dysfunction, Decreased liver function, Respiratory distress, Hepatomegaly, Aminoaci...	OMIM:220110
Immunodeficiency 84	Perianal abscess, B lymphocytopenia, Splenomegaly	OMIM:619437
Renal Cysts And Diabetes Syndrome	Nephrolithiasis, Exocrine pancreatic insufficiency, Unilateral renal agenesis, Abnormality of the...	OMIM:137920
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Respiratory distress, Cyst of the ductus choledochus, Short stature, Renal dysplasia, Hypoplastic...	ORPHA:480880
Sialuria	Cholelithiasis, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatomegaly	ORPHA:3166
Glycogen Storage Disease Xii	Cholelithiasis, Hepatomegaly, Splenomegaly, Hemoglobinuria, Cholecystitis, Elevated circulating a...	OMIM:611881
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Chronic kidney disease, Short stature, Nephropathy, Gout, Focal segmental glomerulosclerosis, Ren...	OMIM:617056
Primary Biliary Cholangitis	Hepatic failure, Cirrhosis, Hepatocellular carcinoma, Hepatitis, Hepatic fibrosis, Portal hyperte...	ORPHA:186
Thrombocytopenia-Absent Radius Syndrome	Cleft palate, Hepatosplenomegaly, Ureteral duplication, Patent ductus arteriosus, Horseshoe kidne...	OMIM:274000
Joubert Syndrome With Hepatic Defect	Neoplasm of the liver, Hepatomegaly, Splenomegaly, Intrahepatic biliary atresia, Cirrhosis, Multi...	ORPHA:1454
Rajab Interstitial Lung Disease With Brain Calcifications 1	High palate, Decreased liver function, Intestinal malrotation, Cirrhosis, Recurrent urinary tract...	OMIM:613658
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Hepatosplenomegaly, Crackles, Cough, Restrictive ventilatory defect, Glomerulonephr...	ORPHA:99931
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, ...	OMIM:619463
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Lymphadenopa...	OMIM:603552
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly	ORPHA:231393
Peutz-Jeghers Syndrome	Neoplasm of the rectum, Neoplasm of the colon, Esophageal neoplasm, Stomach cancer, Enlarged poly...	ORPHA:2869
Cholestasis, Benign Recurrent Intrahepatic, 1	Intermittent jaundice, Pancreatitis, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice	OMIM:243300
Immunodeficiency 95	Respiratory distress, Recurrent viral pneumonia, Respiratory failure	OMIM:619773
Anemia, Congenital Dyserythropoietic, Type Ib	Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis...	OMIM:615631
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Fat ma...	OMIM:601847
Lambert Syndrome	Hypospadias, Jaundice, Cholestasis, Intrahepatic biliary atresia	ORPHA:1296
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Cholelithiasis, Hypoparathyroidism, Chronic active hepatitis, Nephrocalcinosis, Asplenia	OMIM:240300
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hepatomegaly, Macrovesicular hepatic steatosis	OMIM:618234
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatomegaly, Renal tubular acidosis, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Myoglobi...	ORPHA:79240
Mu-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Abnormal B cell count, Anemia, Lymphadenopathy	ORPHA:100024
Cyanosis, Transient Neonatal	Hepatomegaly, Jaundice	OMIM:613977
Porphyria Cutanea Tarda	Porphyrinuria, Viral hepatitis, Periportal fibrosis, Chronic hepatitis, Hepatocellular carcinoma,...	ORPHA:101330
Peroxisome Biogenesis Disorder 13A (Zellweger)	Hepatomegaly, Jaundice, Cholestasis	OMIM:614887
Citrullinemia Type Ii	Pancreatitis, Hepatomegaly, Hepatocellular carcinoma, Elevated hepatic transaminase, Hepatic fibr...	ORPHA:247585
Mitochondrial Complex I Deficiency, Nuclear Type 3	Hepatomegaly	OMIM:618224
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Renal hypoplasia/aplasia, Short stature, Respiratory insufficiency, Multiple renal cysts, Cryptor...	ORPHA:1166
Triosephosphate Isomerase Deficiency	Cholelithiasis, Respiratory distress, Splenomegaly, Respiratory insufficiency, Death in adolescen...	OMIM:615512
Arthrogryposis Multiplex Congenita 6	Hypospadias, Death in childhood, Neonatal death, Death in infancy, Respiratory failure	OMIM:619334
Dominant Beta-Thalassemia	Hypoparathyroidism, Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis...	ORPHA:231226
Hemoglobin D Disease	Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp...	ORPHA:90039
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Dyspnea, Respiratory failure, Intrauterine growth retardation	ORPHA:1832
Bile Acid Conjugation Defect 1	Hepatomegaly, Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Ele...	OMIM:619232
Bile Acid Synthesis Defect, Congenital, 1	Giant cell hepatitis, Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Steatorrhea, Elevat...	OMIM:607765
Duodenal Atresia	Annular pancreas, Duodenal atresia, Abnormality of the pancreas	ORPHA:1203
Hepatitis, Fulminant Viral, Susceptibility To	Hepatomegaly, Hepatic failure, Fulminant hepatitis, Elevated hepatic transaminase, Jaundice	OMIM:618549
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Acute hepatic failure, Myoglobinuria, Elevated hepatic transaminase, Dicarboxylic aciduria, Hepat...	ORPHA:71212
Cholestasis, Progressive Familial Intrahepatic, 4	Hepatic failure, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Portal hypertension	OMIM:615878
Nemaline Myopathy 8	Respiratory failure, Death in infancy	OMIM:615348
3-Methylglutaconic Aciduria Type 7	Elevated hepatic transaminase, Renal cyst, 3-Methylglutaconic aciduria, Renal insufficiency, Neph...	ORPHA:445038
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Esophag...	OMIM:619534
Genitopalatocardiac Syndrome	Hypospadias, Renal cyst, Cleft palate	OMIM:231060
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Pulmonary venous hypertension, Pancreatitis, Hepatomegaly, Gout, Hepatocellular adenoma, Enlarged...	ORPHA:79259
Pontocerebellar Hypoplasia, Type 1C	Respiratory insufficiency, Respiratory failure	OMIM:616081
Joubert Syndrome 16	Renal cyst, Nephronophthisis	OMIM:614465
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Respiratory failure, Short stature	OMIM:600561
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Neonatal death, Ureteral agenesis, Renal dysplasia, Renal cyst, Renal hypoplasia, Stillbirth	OMIM:236500
Gapo Syndrome	Breast hypoplasia, Hypoplastic nipples, Hepatomegaly, Tubulointerstitial fibrosis	OMIM:230740
Gillessen-Kaesbach-Nishimura Syndrome	Polycystic kidney dysplasia, Periportal fibrosis	OMIM:263210
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Exocrine pancreatic insufficiency, Acute respiratory distress syndrome, Severe postnatal growth r...	OMIM:620005
Bile Acid Synthesis Defect, Congenital, 4	Giant cell hepatitis, Hepatomegaly, Hepatic failure, Elevated hepatic transaminase, Intrahepatic ...	OMIM:214950
Tyrosinemia, Type I	Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Acute hepatic failure, Hepatocellular car...	OMIM:276700
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Leukocytosis, Splenomegaly, Lymphadenitis, Cholestasis, Inflammation of the large i...	OMIM:615895
Vacterl Association With Hydrocephalus	Stillbirth, Respiratory insufficiency, Renal hypoplasia, Respiratory failure	OMIM:276950
Budd-Chiari Syndrome	Malabsorption, Hepatomegaly, Acute hepatic failure, Splenomegaly, Cirrhosis, Peritonitis, Cholecy...	ORPHA:131
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly	ORPHA:231242
Hodgkin Lymphoma	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:98293
Distal Trisomy 5Q	Aplasia/Hypoplasia of the gallbladder, Hypospadias, Cryptorchidism	ORPHA:96097
Beta-Thalassemia Major	Hypoparathyroidism, Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomeg...	ORPHA:231214
Congenital Muscular Dystrophy With Intellectual Disability	Respiratory insufficiency, Cryptorchidism, Respiratory failure, Micropenis	ORPHA:370968
Joubert Syndrome 20	Respiratory insufficiency, Renal cyst	OMIM:614970
Dpm1-Cdg	Hepatomegaly, High, narrow palate, Hepatosplenomegaly, Elevated hepatic transaminase, Hepatic fib...	ORPHA:79322
Igg4-Related Ophthalmic Disease	Keratitis, Sinusitis, Sialadenitis, Pancreatitis, Orchitis, Prostatitis, Abnormality of the kidne...	ORPHA:449563
Leigh Syndrome	Hepatocellular necrosis	OMIM:256000
Alg1-Cdg	Decreased liver function, Nephrotic syndrome, Abnormality of the kidney, Renal insufficiency, Res...	ORPHA:79327
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia, M...	OMIM:614470
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Multicystic kidney dysplasia	ORPHA:3270
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hepatomegaly, Left ventricular hypertrophy, Increased urine succinate level, Elevated circulating...	OMIM:619048
Propionic Acidemia	Organic aciduria, Hepatomegaly	ORPHA:35
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Decreased liver function, Central sleep apnea, Respiratory failure, Hepatic steatosis, Obstructiv...	ORPHA:70472
Congenital Alveolar Capillary Dysplasia	Annular pancreas, Absent gallbladder, Hydronephrosis, Asplenia	ORPHA:210122
Ceroid Lipofuscinosis, Neuronal, 10	Apnea, Respiratory insufficiency, Respiratory failure, Neonatal death	OMIM:610127
Pfapa Syndrome	Malabsorption, Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:42642
Neutral Lipid Storage Disease With Myopathy	Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly	OMIM:610717
Hereditary Hemorrhagic Telangiectasia	Cholelithiasis, Nephrolithiasis, Hepatic failure, Cirrhosis, Hematuria, Cholecystitis, Portal hyp...	ORPHA:774
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Jaundice, Aplasia/Hypoplasia of the pancreas, Renal agenesis, Abnormality of endocrine pancreas p...	ORPHA:93111
Combined Oxidative Phosphorylation Deficiency 34	Hepatic steatosis, Hepatomegaly, Hepatic failure	OMIM:617872
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Hypersplenism	OMIM:610539
Osteopetrosis, Autosomal Recessive 8	Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly	OMIM:615085
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Splenomegaly, Cholestasis, Portal hypertension, Jaundice	ORPHA:59303
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Esophageal neoplasm, Ascites, Hepatomegaly, Abnormal large intestine morphology	ORPHA:2198
Bile Acid Synthesis Defect, Congenital, 2	Hepatomegaly, Hepatic failure, Splenomegaly, Steatorrhea, Elevated hepatic transaminase, Intrahep...	OMIM:235555
Severe Neurodegenerative Syndrome With Lipodystrophy	Cirrhosis, Hepatic steatosis, Hepatomegaly, Respiratory failure	ORPHA:363400
Neuromyelitis Optica Spectrum Disorder	Functional abnormality of the bladder, Myelitis, Optic neuritis, Respiratory failure	ORPHA:71211
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Global glomerulosclerosis, Decreased glomerular filtration rate, Reduced renal corticomedullary d...	OMIM:602522
Pontocerebellar Hypoplasia, Type 4	Respiratory failure, Death in infancy	OMIM:225753
Trimethylaminuria	Anemia, Neutropenia, Splenomegaly	OMIM:602079
Perlman Syndrome	Cryptorchidism, Abnormal pancreas morphology, Hepatomegaly, High, narrow palate	ORPHA:2849
Immunodeficiency 69	Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia	OMIM:618963
Pentalogy Of Cantrell	Renal agenesis, Hypospadias, Renal dysplasia, Absent gallbladder, Polysplenia	ORPHA:1335
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Renal insufficiency	ORPHA:28
Peroxisome Biogenesis Disorder 5A (Zellweger)	Hepatomegaly, Jaundice, Cleft palate, Splenomegaly, Hepatosplenomegaly, Renal cyst, Renal cortica...	OMIM:614866
Metachromatic Leukodystrophy	Abnormal gallbladder morphology, Hemobilia, Neoplasm of the gallbladder, Urinary incontinence	ORPHA:512
Dysplastic Cortical Hyperostosis	Abnormality of the urinary system, Hepatomegaly, Splenomegaly	ORPHA:2204
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Anemia of inadequate production, Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, S...	OMIM:612714
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24	Biliary atresia	ORPHA:565899
Cimdag Syndrome	Cholelithiasis, Microvesicular hepatic steatosis, Hepatomegaly	OMIM:619273
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells	OMIM:607616
Autoimmune Hemolytic Anemia, Cold Type	Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly	ORPHA:228312
Carcinoid Syndrome	Elevated hepatic transaminase, Hepatic necrosis	ORPHA:100093
Lysinuric Protein Intolerance	Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate, Hepatic failure, Steatorrhea, P...	ORPHA:470
Birt-Hogg-Dube Syndrome	Renal neoplasm, Large intestinal polyposis, Renal cell carcinoma, Renal cyst, Colon cancer	OMIM:135150
Trichohepatoenteric Syndrome 1	Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Hypospadias, Bifid uvula, Abnormality of ...	OMIM:222470
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Apnea, Respiratory insufficiency, Respiratory failure	OMIM:613869
Joubert Syndrome 7	Episodic tachypnea, Nephronophthisis, Central apnea, Tachypnea, Renal cyst, Neonatal breathing dy...	OMIM:611560
Thanatophoric Dysplasia, Glasgow Variant	Hepatosplenomegaly, Neonatal death	OMIM:273680
Trisomy X	Renal hypoplasia/aplasia, Multicystic kidney dysplasia	ORPHA:3375
Niemann-Pick Disease, Type C2	Hepatomegaly, Jaundice, Splenomegaly, Respiratory insufficiency, Death in childhood, Death in inf...	OMIM:607625
Generalized Pseudohypoaldosteronism Type 1	Cholelithiasis	ORPHA:171876
Sickle Cell Anemia	Pigment gallstones, Abnormality of the spleen, Cholestasis	ORPHA:232
Axial Mesodermal Dysplasia Spectrum	Anal atresia, Renal hypoplasia/aplasia, Tracheoesophageal fistula, Abnormality of the ureter, Abn...	ORPHA:1834
Diffuse Neonatal Hemangiomatosis	Renal hypoplasia/aplasia, Ascites, Hepatomegaly, Renal insufficiency	ORPHA:2123
8P Inverted Duplication/Deletion Syndrome	Micropenis, Abnormality of the urinary system, Aplasia/Hypoplasia of the gallbladder, Hydronephro...	ORPHA:96092
Prune Belly Syndrome	Urogenital sinus anomaly, Anal atresia, Intestinal atresia, Intestinal malrotation, Abnormality o...	ORPHA:2970
Genitopalatocardiac Syndrome	Hypospadias, Multicystic kidney dysplasia, Abnormality of the gallbladder, Abnormality of mesente...	ORPHA:2075
Harderoporphyria	Prolonged neonatal jaundice, Hepatomegaly, Splenomegaly, Increased urinary porphobilinogen, Incre...	OMIM:618892
Spherocytosis, Type 5	Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,...	OMIM:612690
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Respiratory insufficiency, Death in childhood, El...	OMIM:610333
Gaucher Disease Type 2	Hepatomegaly, Splenomegaly	ORPHA:77260
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Jaundice	OMIM:185000
Hereditary Elliptocytosis	Cholelithiasis, Jaundice, Splenomegaly, Prolonged neonatal jaundice	ORPHA:288
Say Syndrome	Proximal renal tubular acidosis, Cystic renal dysplasia, Cleft palate	OMIM:181180
Ppoma	Cholelithiasis, Neoplasm of the pancreas, Pituitary adenoma, Elevated circulating growth hormone ...	ORPHA:97278
Peroxisome Biogenesis Disorder 2A (Zellweger)	Apnea, Intrauterine growth retardation, Hepatomegaly, Jaundice, Aminoaciduria, Hypoplasia of the ...	OMIM:214110
Mitochondrial Pyruvate Carrier Deficiency	Organic aciduria, Hepatomegaly	OMIM:614741
Fish-Eye Disease	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:79292
Jeune Syndrome	Nephronophthisis, Short stature, Respiratory insufficiency, Nephropathy, Renal insufficiency, Abn...	ORPHA:474
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset	Respiratory distress, Respiratory insufficiency, Respiratory failure, Restrictive ventilatory defect	OMIM:614399
Lipodystrophy, Congenital Generalized, Type 3	Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Splenomegaly	OMIM:612526
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Cholelithiasis, Cryptorchidism, Decreased testicular size, Micropenis	OMIM:300534
Hereditary Spherocytosis	Cholelithiasis, Hepatomegaly, Jaundice, Splenomegaly	ORPHA:822
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Cholestatic liver disease, Giant cell hepatitis, Hepatomegaly, Renal tubular acidosis, Right vent...	OMIM:613404
Congenital Disorder Of Glycosylation, Type Ia

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