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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 (1210 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, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe...	OMIM:263200
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c...	ORPHA:53035

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

Disease	Matching phenotypes	Source
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
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
RCAD (renal cysts and diabetes)	Abnormality of the liver, Multiple renal cysts	DECIPHER:47
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Hepatic...	OMIM:614377
Polycystic Liver Disease 2 With Or Without Kidney Cysts	Hepatomegaly, Hepatic cysts	OMIM:617004
Cholangiocarcinoma, Susceptibility To	Cholangiocarcinoma	OMIM:615619
Renal Dysplasia, Cystic, Susceptibility To	Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal...	OMIM:601331
Gallbladder Disease 1	Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f...	OMIM:600803
Meckel Syndrome, Type 3	Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Cleft palat...	OMIM:607361
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Polycystic kidney dysplasia, Decreased liver function, Hepatic cysts	OMIM:600666
Campomelia, Cumming Type	Pancreatic cysts, Polycystic liver disease, Polycystic kidney dysplasia, Polysplenia	OMIM:211890
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Intrahepatic cholestasis, Jaundice, P...	OMIM:602347
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i...	OMIM:620056
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease	Elevated hepatic transaminase, Chronic kidney disease, Abnormal tubulointerstitial morphology, Ch...	OMIM:602114
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome...	OMIM:618061
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe...	OMIM:263200
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Intestinal malrotation, Malformation of the hepatic ductal pla...	OMIM:208540
Senior-Loken Syndrome 8	Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Pancreatic cysts, St...	OMIM:616307
Hepatorenocardiac Degenerative Fibrosis	Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosp...	OMIM:619902
Congenital Bile Acid Synthesis Defect Type 3	Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala...	ORPHA:79302
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Abnormality of the pancreas, Abnormal liver parenchyma morphology, ...	ORPHA:3032
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib...	OMIM:613812
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly, Anemia	ORPHA:294
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Pancreatic cysts, B...	OMIM:267010
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,...	OMIM:619662
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Stillbirth, Hepati...	OMIM:615415
Meckel Syndrome, Type 6	Absent gallbladder, Cleft palate, Renal cyst, Horseshoe kidney, Cystic liver disease, Aplasia of ...	OMIM:612284
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In...	OMIM:613027
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Nephronophthisis 20	Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral...	OMIM:617271
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
Isolated Polycystic Liver Disease	Hepatomegaly, Polycystic liver disease, Multiple renal cysts, Abnormality of the pancreas	ORPHA:2924
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Short stature, Asthma, Atopic dermatitis, Hepatosplenomegaly, Me...	OMIM:618999
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Renal insufficiency, Polycystic kidney dysplasia, Hepatic cysts	OMIM:173900
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Hyperbiliverdinemia	Cholelithiasis, Decreased liver function, Cholestasis, Green urine	OMIM:614156
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites	OMIM:271500
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Ascites, Polycystic liver disease, Renal cyst	OMIM:174050
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	Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Decreased glom...	ORPHA:730
Dubin-Johnson Syndrome	Jaundice, Biliary tract abnormality	OMIM:237500
Polysyndactyly With Cardiac Malformation	Stillbirth, Renal cyst, Hepatic cysts	OMIM:263630
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r...	OMIM:617805
Meckel Syndrome, Type 5	Renal cyst, Bile duct proliferation, Cleft palate	OMIM:611561
Porphyria Cutanea Tarda, Type I	Hepatic fibrosis, Porphyrinuria	OMIM:176090
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Chronic pancreatitis, Pancreatic cysts, Stage 5 chronic...	OMIM:613159
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Stage 5 chronic kidney disease, Hepatic cysts	OMIM:613819
Caroli Syndrome	Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Abnormality of th...	ORPHA:480520
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Jaundice, Stage 5 chronic ...	OMIM:613095
Nephronophthisis 16	Renal insufficiency, Stage 5 chronic kidney disease, Cholestasis, Periportal fibrosis, Polycystic...	OMIM:615382
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Death in infancy, Renal insufficiency, Polycystic liver disease, Short stature, Pancreatic fibros...	OMIM:208500
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Periportal fibrosis	OMIM:213010
Mirizzi Syndrome	Dark urine, Elevated hepatic transaminase, Pancreatitis, Jaundice, Cholesterol gallstones, Cholel...	ORPHA:521219
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de...	OMIM:616278
Protoporphyria, Erythropoietic, X-Linked	Elevated hepatic transaminase, Cholelithiasis	OMIM:300752
Retinitis Pigmentosa 89	Micronodular cirrhosis, Esophageal varix, Hepatosplenomegaly, Hepatic fibrosis, Intrahepatic bile...	OMIM:618955
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B...	OMIM:607626
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor...	ORPHA:400
Joubert Syndrome 6	Bile duct proliferation, Hepatic fibrosis, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:610688
Campomelia, Cumming Type	Hepatomegaly, Multicystic kidney dysplasia, Pancreatic cysts, Abnormality of the pancreas, Cleft ...	ORPHA:1318
Meckel Syndrome, Type 2	Renal cyst, Bile duct proliferation, Intestinal malrotation, Cleft palate	OMIM:603194
Nephronophthisis 9	Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613824
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr...	ORPHA:69663
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega...	ORPHA:567983
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia	OMIM:613313
Neonatal Hemochromatosis	Congenital hepatic fibrosis, Abnormal localization of kidney, Prolonged neonatal jaundice	ORPHA:446
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly...	ORPHA:30391
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis	OMIM:616719
Fadd-Related Immunodeficiency	Hepatic fibrosis, Decreased liver function	ORPHA:306550
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Abnormality of the kidney, Portal fibro...	ORPHA:369
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Portal inflammation, Elevated circulating alanine aminotransferase concentration, Howell-Jolly bo...	OMIM:613759
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c...	ORPHA:53035
Gallbladder Disease 4	Cholelithiasis	OMIM:611465
Cholestasis, Progressive Familial Intrahepatic, 11	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a...	OMIM:619874
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ...	OMIM:200995
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ...	OMIM:613092
Alveolar Echinococcosis	Liver abscess, Cholangitis, Portal hypertension, Pancreatic cysts, Dyspnea, Abnormal mesentery mo...	ORPHA:284
Benign Recurrent Intrahepatic Cholestasis	Elevated hepatic transaminase, Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, He...	ORPHA:65682
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Portal hypertension, Hiatus hernia, Pancreatic cysts, Splenomegaly, Hepatitis, Chol...	OMIM:610199
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly	ORPHA:79281
Meckel Syndrome, Type 4	Renal cyst, Bile duct proliferation, Cleft palate	OMIM:611134
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi...	OMIM:613496
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Peroxisome Biogenesis Disorder 6A (Zellweger)	Neonatal death, Hepatomegaly, Decreased liver function, Renal cyst	OMIM:614870
Hemochromatosis, Neonatal	Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged neonatal jaundice, H...	OMIM:231100
Coach Syndrome 2	Elevated hepatic transaminase, Congenital hepatic fibrosis, Portal fibrosis, Hepatic fibrosis, Hy...	OMIM:619111
Immunodeficiency 56	Cholangitis, Recurrent pneumonia, Bronchiectasis, Cirrhosis, Chronic hepatitis due to cryptospori...	OMIM:615207
Anemia, Congenital Dyserythropoietic, Type Ii	Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Butyrylcholinesterase Deficiency	Respiratory failure requiring assisted ventilation, Abnormality of the liver, Respiratory failure	ORPHA:132
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Pancreatic islet-cell hyperplasia	OMIM:601820
Senior-Loken Syndrome 9	Stage 5 chronic kidney disease, Cholestasis, Tubulointerstitial nephritis, Hepatic fibrosis, Neph...	OMIM:616629
Glycogen Storage Disease Iv	Portal hypertension, Hepatosplenomegaly, Cirrhosis, Hepatic failure, Tubulointerstitial fibrosis	OMIM:232500
Senior-Boichis Syndrome	Elevated hepatic transaminase, Thickening of the tubular basement membrane, Portal hypertension, ...	ORPHA:84081
Senior-Loken Syndrome	Congenital hepatic fibrosis, Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophth...	ORPHA:3156
Axial Osteomalacia	Polycystic liver disease, Renal cyst	OMIM:109130
Pediatric Hepatocellular Carcinoma	Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis	ORPHA:33402
Citrullinemia, Type Ii, Adult-Onset	Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa...	OMIM:603471
Bardet-Biedl Syndrome 10	Renal insufficiency, Renal cyst	OMIM:615987
Nephrotic Syndrome, Type 6	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	OMIM:614196
Cholestasis, Benign Recurrent Intrahepatic, 2	Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholelithiasis	OMIM:605479
Hepatic Veno-Occlusive Disease	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Jaundice, Respiratory failure	ORPHA:890
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp...	ORPHA:2137
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn...	ORPHA:139507
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia	ORPHA:46532
Hemoglobin H Disease	Hepatomegaly, Hemolytic anemia, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile...	ORPHA:562639
Autoinflammatory-Pancytopenia Syndrome	Membranoproliferative glomerulonephritis, Proteinuria, Chilblains, Intestinal inflammation, Hepat...	OMIM:619858
Autosomal Erythropoietic Protoporphyria	Cholelithiasis, Decreased liver function, Cirrhosis	ORPHA:79278
Ketamine-Induced Biliary Dilatation	Abnormal biliary tract morphology, Dysuria	ORPHA:293807
Nephronophthisis 11	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:613550
Bardet-Biedl Syndrome 16	Respiratory distress, Renal insufficiency, Short stature, Renal agenesis, Stage 5 chronic kidney ...	OMIM:615993
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Splenomegaly, Hepatomegaly, Enlarged kidney	OMIM:615285
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Splen...	OMIM:232220
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Acute hepatic failure, Hepatic fibrosis, Hepatosplenomegaly	ORPHA:466794
Nephronophthisis 1	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:256100
Cadds	Elevated hepatic transaminase, Intrauterine growth retardation, Cholangitis, Cholestasis	ORPHA:369942
Igg4-Related Thyroid Disease	Pancreatic fibrosis, Retroperitoneal fibrosis, Abnormal pituitary gland morphology, Sclerosing ch...	ORPHA:64744
Rhyns Syndrome	Hypopituitarism, Multicystic kidney dysplasia, Abnormality of the liver, Nephronophthisis	ORPHA:140976
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Recurrent urinary tract infections, Cholangitis, Biliary tract abnormality, Chro...	OMIM:209920
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Immunodeficiency 92	Hepatomegaly, Osteomyelitis, Pneumonia, Cholangitis, Sclerosing cholangitis, Esophagitis	OMIM:619652
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly	OMIM:619175
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts, Pheochrom...	OMIM:193300
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr...	OMIM:301068
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multicystic kidney dysplasia, Multinodular goiter	ORPHA:2091
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Unilateral renal agenesis, Sple...	OMIM:216360
Gcgr-Related Hyperglucagonemia	Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology	ORPHA:438274
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Villous atrophy, Renal cyst, Proximal tubulopathy, Hepatic fibrosis, Protein-losing...	OMIM:602579
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t...	OMIM:606966
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Nephro...	ORPHA:85445
Alpha-Thalassemia	Hypersplenism, Splenomegaly, Jaundice, Cholelithiasis	ORPHA:846
Cholesteryl Ester Storage Disease	Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, Hepatic steatosis, H...	OMIM:278000
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Plin1-Related Familial Partial Lipodystrophy	Hepatic steatosis, Hepatic fibrosis, Polycystic ovaries	ORPHA:280356
Sea-Blue Histiocyte Disease	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating...	OMIM:269600
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly, Lymphocytosis	OMIM:606445
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Int...	ORPHA:100085
Martinez-Frias Syndrome	Hypoplasia of the gallbladder, Hypospadias, Extrahepatic biliary duct atresia, Annular pancreas, ...	OMIM:601346
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma	ORPHA:882
Glycogen Storage Disease Iii	Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis	OMIM:232400
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Respiratory in...	OMIM:602088
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Biliary tract...	ORPHA:79301
Protoporphyria, Erythropoietic, 1	Cholelithiasis, Hepatic failure	OMIM:177000
Adams-Oliver Syndrome 6	Portal hypertension, Splenomegaly, Esophageal varix, Renal hypoplasia, Hepatic fibrosis	OMIM:616589
Pancreatic Colipase Deficiency	Cholelithiasis, Exocrine pancreatic insufficiency	ORPHA:309108
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a...	OMIM:605911
Hepatocellular Carcinoma	Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis	OMIM:114550
Kaposiform Lymphangiomatosis	Pancreatic cysts, Splenomegaly, Abnormality of the lymphatic system, Hepatosplenomegaly, Anemia, ...	ORPHA:464329
Pearson Marrow-Pancreas Syndrome	Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Pancytopenia, Pancreatic fibro...	OMIM:557000
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress, Hepatomegaly, Superficial dermal perivascular inflammatory infiltrate, Ecze...	ORPHA:83617
Portal Hypertension, Noncirrhotic, 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix	OMIM:617068
Combined Oxidative Phosphorylation Deficiency 52	Death in infancy, Renal insufficiency, Elevated circulating aspartate aminotransferase concentrat...	OMIM:619386
Cholangiocarcinoma	Biliary tract neoplasm, Jaundice, Acholic stools	ORPHA:70567
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Pigment gallstones, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis	OMIM:613470
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Steatorrhea, Hepatic steatosis, Exocrine pan...	OMIM:616263
Crigler-Najjar Syndrome Type 1	Abnormality of the liver, Biliary tract abnormality, Prolonged neonatal jaundice	ORPHA:79234
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Splenomegaly, Chronic kidney disease, Cholestasis, Hepatic fibrosis, Nephronophthis...	OMIM:615630
Bile Acid Malabsorption, Primary, 2	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:619481
Peroxisome Biogenesis Disorder 10A (Zellweger)	Hepatomegaly, High palate	OMIM:614882
Meckel Syndrome	Accessory spleen, Multicystic kidney dysplasia, Pancreatic fibrosis, Aplasia/Hypoplasia of the to...	ORPHA:564
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,...	OMIM:211600
Lambert Syndrome	Jaundice, Intrahepatic biliary atresia, Hypospadias	OMIM:245550
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Death in infancy, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular ...	OMIM:614922
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Splenom...	OMIM:620010
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Alaninuria, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated c...	OMIM:615158
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, 3-Methylglutaconic aciduria, Bile duct proliferation, Macrovesicul...	OMIM:618329
Joubert Syndrome 9	Stage 5 chronic kidney disease, Hepatic fibrosis, Apnea, Episodic tachypnea	OMIM:612285
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po...	ORPHA:64743
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Proxi...	OMIM:231680
Hyperbilirubinemia, Shunt, Primary	Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Death in infancy, Ectopic kidney, Cryptorchidism, Neonatal death, Cystic renal dysp...	OMIM:613730
Budd-Chiari Syndrome	Cirrhosis, Hepatocellular carcinoma	OMIM:600880
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Joubert Syndrome 35	Recurrent urinary tract infections, Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis	OMIM:618161
D-Bifunctional Protein Deficiency	Elevated hepatic transaminase, Hepatomegaly, Fetal ascites, Splenomegaly, Cholestasis, Renal cyst...	OMIM:261515
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Hemoglobinuria, Cholelithiasis	OMIM:194380
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly	ORPHA:139406
Peroxisome Biogenesis Disorder 4A (Zellweger)	Hepatomegaly, Respiratory failure, Renal cyst, Death in infancy	OMIM:614862
Laurence-Moon Syndrome	Hypoplasia of penis, Renal insufficiency, Cryptorchidism, Congenital hepatic fibrosis, Displaceme...	ORPHA:2377
Hjv Or Hamp-Related Hemochromatosis	Elevated hepatic transaminase, Congenital hepatic fibrosis, Abnormality of endocrine pancreas phy...	ORPHA:79230
Nephronophthisis 14	Polycystic kidney dysplasia, Nephronophthisis	OMIM:614844
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Hereditary Amyloidosis With Primary Renal Involvement	Hepatomegaly, Renal insufficiency, Primary testicular failure, Proteinuria, Renal interstitial am...	ORPHA:85450
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia...	OMIM:603860
Reticuloendotheliosis, X-Linked	Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly	OMIM:312500
Amyloidosis, Familial Visceral	Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy	OMIM:105200
Glycogen Storage Disease Vii	Hematuria, Cholelithiasis, Jaundice, Exercise-induced myoglobinuria	OMIM:232800
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Viral hepatitis, Psoriasiform dermatitis, Liver abscess, Cholangitis, Pneumoni...	ORPHA:183675
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Acute hepatic failure, Cholangitis, Portal hypertension, Hypersplenism, Hepatitis, Thyroiditis, H...	ORPHA:228426
Psoriasis 14, Pustular	Pustule, Psoriasiform dermatitis, Oligoarthritis, Cholangitis	OMIM:614204
Liver Disease, Severe Congenital	Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Aminoaciduria, Elevated hepatic iron concen...	OMIM:619991
3-Methylglutaconic Aciduria Type 1	Hepatomegaly, 3-Methylglutaconic aciduria	ORPHA:67046
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Renal angiomyolipoma, Polycystic kidney dysplasia	OMIM:600273
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Pancytopenia, Portal hypertension, Esophageal varix, Hepatic fibrosis, Bone marrow hypocellularit...	OMIM:617341
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Splenomegaly, Jaundice, Cholelithiasis, Cholecystitis	OMIM:235700
Immunodeficiency With Hyper-Igm, Type 1	Hepatomegaly, Splenomegaly, Hepatitis, Chronic hepatitis, Hypoxemia, Sclerosing cholangitis, Cirr...	OMIM:308230
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Hepatomegaly, Fetal ascites	OMIM:619462
Immunodeficiency 54	Hepatomegaly, Short stature, Postnatal growth retardation, Splenomegaly, Respiratory insufficienc...	OMIM:609981
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Death in infancy, Disproportionate short stature, Hepatic cysts, Erythroderma	OMIM:617425
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Abnormality of the liver	ORPHA:1980
Peroxisome Biogenesis Disorder 1B	Hepatomegaly, Hyperoxaluria, Renal cyst, Hepatic fibrosis, Cirrhosis	OMIM:601539
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Renal dysplasia, Hepatomegaly, Ureteral duplication, Cholangitis, Pancreatic cysts, Congenital he...	OMIM:266920
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly	OMIM:609016
Orofaciodigital Syndrome I	Proteinuria, Hamartoma of tongue, Pancreatic cysts, Cleft palate, Tongue nodules, Ovarian cyst, L...	OMIM:311200
Hyperparathyroidism 2 With Jaw Tumors	Hyperparathyroidism, Pancreatic adenocarcinoma, Nephrolithiasis, Papillary renal cell carcinoma, ...	OMIM:145001
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Short stature, Splenomegaly, ...	OMIM:618641
Pearson Syndrome	Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Neut...	ORPHA:699
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Cholestasis, Hematuria, Renal tub...	OMIM:610205
Arima Syndrome	Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedu...	OMIM:243910
Nephronophthisis 18	Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Cholestasis, Tubulointers...	OMIM:615862
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Dicarboxylic aciduria, Hepatic necrosis, Myoglobinuria, Hepatic steatosis	OMIM:231530
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Death in infancy, Neonatal respiratory distress, Elevated circulating aspartate aminotransferase ...	OMIM:245400
Systemic Primary Carnitine Deficiency	Elevated hepatic transaminase, Hepatomegaly	ORPHA:158
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria	OMIM:230350
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Lymphadenitis, Abnormality of the pa...	ORPHA:2552
Alpha-1-Antitrypsin Deficiency	Hepatomegaly, Jaundice, Hepatitis, Nephrotic syndrome, Hepatic failure	ORPHA:60
Joubert Syndrome 18	Intrahepatic biliary atresia, Renal cyst, Horseshoe kidney	OMIM:614815
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Pancreatic fibrosis, Intestinal malrotation, Hamartoma of tongue, Cleft palate, Hepatic fibrosis,...	OMIM:263520
Galactose Epimerase Deficiency	Splenomegaly, Hepatomegaly, Jaundice, Aminoaciduria	ORPHA:79238
Spherocytosis, Type 1	Splenomegaly, Jaundice, Cholelithiasis	OMIM:182900
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated hepatic transaminase, Hepatomegaly, Death in infancy, Neonatal respiratory distress, Apn...	OMIM:608836
Bardet-Biedl Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Nephrotic syndrome, Hypoplasia...	ORPHA:110
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cirrhosis, Ne...	OMIM:214900
Cholestasis, Progressive Familial Intrahepatic, 6	Elevated hepatic transaminase, Intrahepatic cholestasis, Periportal fibrosis	OMIM:619484
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Pancreatic fibrosis	OMIM:615503
Mpi-Cdg	Hepatomegaly, Portal hypertension, Protein-losing enteropathy, Hepatic fibrosis, Decreased liver ...	ORPHA:79319
Interstitial Nephritis, Karyomegalic	Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, H...	OMIM:614817
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Necrotizing enterocolitis, Death in infancy, Dicarboxylic aciduria, Cardiomegaly, E...	OMIM:201475
Peroxisome Biogenesis Disorder 8A (Zellweger)	Glossoptosis, Hepatomegaly, Jaundice, Elevated circulating aspartate aminotransferase concentration	OMIM:614876
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Aciduria, Microvesicular hepa...	OMIM:203700
Lymphoid Interstitial Pneumonia	Hepatomegaly, Skin rash, Eczema, Crackles, Dyspnea, Wheezing, Bronchiectasis, Hypoxemia, Restrict...	ORPHA:79128
Dubin-Johnson Syndrome	Hepatomegaly, Abnormal urinary color, Abnormal gastric mucosa morphology, Jaundice, Biliary tract...	ORPHA:234
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cholestasis	ORPHA:172
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Igg4-Related Kidney Disease	Lymphadenitis, Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nep...	ORPHA:449395
Fanconi Anemia, Complementation Group O	Death in infancy, Miscarriage, Short stature, Cryptorchidism, Stage 5 chronic kidney disease, Ren...	OMIM:613390
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency	OMIM:611722
Bardet-Biedl Syndrome 4	Cryptorchidism, Abnormality of the kidney, Renal cyst	OMIM:615982
Beta-Thalassemia	Splenomegaly, Hepatomegaly, Cholelithiasis, Hepatitis	ORPHA:848
Immunodeficiency 104	Splenomegaly, Hepatomegaly, T lymphocytopenia, Lymphadenopathy	OMIM:608971
Diaphanospondylodysostosis	Respiratory distress, Nephrogenic rest, Disproportionate short-trunk short stature, Nephroblastom...	OMIM:608022
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly, Aminoaciduria	ORPHA:417
Congenital Disorder Of Glycosylation, Type Iir	Elevated hepatic transaminase, Hepatomegaly, Hypospadias, Jaundice, Micronodular cirrhosis, Decre...	OMIM:301045
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi...	OMIM:619868
Spinal Muscular Atrophy, Type I	Respiratory failure, Respiratory insufficiency, Death in childhood	OMIM:253300
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Hepatomegaly, Death in infancy, Hypospadias, Abnormality of the kidney, Cryptorchidism, Growth de...	ORPHA:1194
Hypereosinophilic Syndrome, Idiopathic	Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder	OMIM:607685
Multiple Symmetric Lipomatosis	Hepatomegaly	ORPHA:2398
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis	OMIM:266200
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Respiratory insufficiency due to muscle weakness, Respiratory failure, Death in adolescence	OMIM:300717
Beta-Thalassemia Intermedia	Hypoparathyroidism, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, Hepatosplenom...	ORPHA:231222
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Mednik Syndrome	Death in infancy, Cholestasis, Growth delay, Hepatic fibrosis, Cirrhosis, Death in childhood, Neo...	OMIM:609313
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Dark urine, Jaundice, Cholesta...	ORPHA:79303
Sickle Cell Disease	Hepatomegaly, Renal insufficiency, Splenomegaly, Jaundice, Splenic infarction, Hematuria, Choleli...	OMIM:603903
Alport Syndrome	Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo...	ORPHA:63
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated hepatic transaminase, Duplicated collecting system, Cholestasis, Hepatosplenomegaly, Gro...	ORPHA:541423
North American Indian Childhood Cirrhosis	Biliary cirrhosis, Portal hypertension, Prolonged neonatal jaundice	OMIM:604901
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Hepatomegaly, Median cleft palate	ORPHA:2432
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Duplicated collecting system, Elevated circulating aspartate aminotransferase concentration, Post...	OMIM:617093
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Peroxisome Biogenesis Disorder 3A (Zellweger)	Hepatomegaly, Polycystic kidney dysplasia	OMIM:614859
Cystic Hamartoma Of Lung And Kidney	Multicystic kidney dysplasia	ORPHA:2111
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Indomethacin Embryofetopathy	Renal insufficiency, Multicystic kidney dysplasia, Respiratory insufficiency, Nephropathy, Abnorm...	ORPHA:1909
Thomas Syndrome	Multicystic kidney dysplasia, Cleft palate, Renal hypoplasia/aplasia	ORPHA:3316
Igg4-Related Submandibular Gland Disease	Renal insufficiency, Cholangitis, Abnormality of the kidney, Retroperitoneal fibrosis, Abnormal p...	ORPHA:449432
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Thrombocytopenia, Micronodular cirrhosis, Splenomegaly, Hepatosplenom...	OMIM:606003
Immunodeficiency By Defective Expression Of Mhc Class Ii	Sinusitis, Skin rash, Acute otitis media, Chronic mucocutaneous candidiasis, Sclerosing cholangit...	ORPHA:572
Interstitial Pneumonitis, Desquamative, Familial	Tubulointerstitial fibrosis	OMIM:263000
Meckel Syndrome, Type 11	Polycystic kidney dysplasia	OMIM:615397
Cranioectodermal Dysplasia 2	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Rhizomelia, Short stature, Chol...	OMIM:613610
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated hepatic transaminase, Cholangitis, Microvesicular hepatic steatosis, Lacticaciduria, Cho...	OMIM:124000
Interstitial Lung And Liver Disease	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Dyspnea, Elevated ci...	OMIM:615486
Tuberous Sclerosis Complex	Respiratory distress, Renal insufficiency, Abnormality of the kidney, Pituitary adenoma, Chronic ...	ORPHA:805
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis	OMIM:618913
Immunodeficiency 48	Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly	OMIM:269840
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	OMIM:251880
Pontocerebellar Hypoplasia, Type 1C	Respiratory failure, Respiratory insufficiency, Death in childhood	OMIM:616081
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Multicystic kidney dysplasia, Short stature, Congenital hepatic fibrosis, Renal cyst, Respiratory...	ORPHA:2031
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Short stature, Proteinuria, Hepatocellular carcinoma...	OMIM:232200
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Pa...	ORPHA:892
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hepatomegaly, Increased hepatic glycogen content	OMIM:232700
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosp...	OMIM:616828
Alpha-Heavy Chain Disease	Hepatomegaly, Abnormal small intestine morphology, Malabsorption, Splenomegaly, Lymphadenopathy, ...	ORPHA:100025
Mitchell-Riley Syndrome	Absent gallbladder, Meckel diverticulum, Jejunal atresia, Intestinal malrotation, Malabsorption, ...	OMIM:615710
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Hepatocellular carcinoma, Splenomegaly, Gastric varix, Cirrhosis	OMIM:613490
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Glutaric aciduria, Lacticaciduri...	ORPHA:26791
Senior-Loken Syndrome 1	Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen...	OMIM:266900
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Intestinal malrotation, Hepatitis, Intestinal atresia, Hypoplasia of...	ORPHA:436252
Combined Saposin Deficiency	Splenomegaly, Hepatomegaly	OMIM:611721
Cranioectodermal Dysplasia 1	Hepatomegaly, Malformation of the hepatic ductal plate, Renal magnesium wasting, High, narrow pal...	OMIM:218330
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency	OMIM:613869
Biliary Cirrhosis, Primary, 1	Biliary cirrhosis	OMIM:109720
Peroxisome Biogenesis Disorder 11A (Zellweger)	Elevated hepatic transaminase, Multiple renal cysts, Decreased liver function, Renal cyst	OMIM:614883
Orofaciodigital Syndrome Type 1	Elevated hepatic transaminase, Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Ha...	ORPHA:2750
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome...	OMIM:616860
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Abnormality of ...	ORPHA:90117
Combined Oxidative Phosphorylation Deficiency 4	Intrauterine growth retardation, Respiratory failure, Death in infancy, Hepatomegaly	OMIM:610678
Galactose Mutarotase Deficiency	Hepatomegaly, Decreased liver function, Cholestasis	ORPHA:570422
Renal Hypodysplasia/Aplasia 4	Respiratory failure, Bilateral renal agenesis	OMIM:619887
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Cholestatic liver disease, Cholelithiasis	ORPHA:79095
Donohue Syndrome	Postnatal growth retardation, Long penis, Cholestasis, Ovarian cyst, Hepatic fibrosis, Pancreatic...	OMIM:246200
Renal Tubular Dysgenesis	Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts	ORPHA:3033
Cholesteryl Ester Storage Disease	Hepatomegaly, Splenomegaly, Jaundice, Esophageal varix, Cirrhosis, Hepatic failure	ORPHA:75234
Alg9-Cdg	Hepatomegaly, Villous atrophy, Hypoplasia of the bladder, Ureteral hypoplasia, Hydronephrosis, Pe...	ORPHA:79328
Avian Influenza	Elevated hepatic transaminase, Respiratory distress, Miscarriage, Pneumonia, Productive cough, No...	ORPHA:454836
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Renal insufficiency, Proteinuria...	OMIM:619487
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hypospadias, Short uvula, Renal hypoplasia, Renal cyst, Cleft palate, High palate, Hepatic fibros...	OMIM:614091
Osteootohepatoenteric Syndrome	Ileoileal intussusception, Villous atrophy, Proteinuria, Microvesicular hepatic steatosis, Grade ...	OMIM:619377
Meckel Syndrome, Type 8	Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys	OMIM:613885
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Cyst of the ductus choledochus, Bifid uvula	OMIM:619480
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Biliary tract abnormality, Acholic sto...	ORPHA:1414
Meckel Syndrome, Type 9	Multicystic kidney dysplasia	OMIM:614209
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Esophageal varix, Hepatocellular adeno...	ORPHA:264580
Idiopathic Hypereosinophilic Syndrome	Elevated hepatic transaminase, Respiratory distress, Inflammatory abnormality of the skin, Cholan...	ORPHA:3260
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Immunodeficiency 47	Elevated hepatic transaminase, Hepatomegaly, Normocytic anemia, Accessory spleen, Elevated circul...	OMIM:300972
Peroxisome Biogenesis Disorder 12A (Zellweger)	Renal tubular dysfunction, Cholelithiasis, Hepatic failure, Elevated hepatic transaminase	OMIM:614886
Myotonic Dystrophy 1	Cholelithiasis, Testicular atrophy	OMIM:160900
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Elevated c...	OMIM:619525
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Severe short stature, Growth delay, Respiratory failure, Aspiratio...	OMIM:619057
Coproporphyria, Hereditary	Hepatomegaly, Splenomegaly, Jaundice, Increased urinary porphobilinogen, Elevated urinary delta-a...	OMIM:121300
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:86893
Mulibrey Nanism	Hepatomegaly	ORPHA:2576
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Enlarged kidney, Elevated circulating growth hormone concentration, ...	ORPHA:90301
Dent Disease	Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k...	ORPHA:1652
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hepatitis, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic s...	ORPHA:209902
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce...	ORPHA:266
Sandhoff Disease	Splenomegaly, Hepatomegaly	ORPHA:796
Sialuria	Elevated hepatic transaminase, Hepatomegaly, Cholelithiasis, Hepatosplenomegaly	ORPHA:3166
Pancreas, Annular	Annular pancreas, High intestinal obstruction, Duodenal stenosis	OMIM:167750
Annular Pancreas	Annular pancreas, High intestinal obstruction, Duodenal stenosis	ORPHA:675
Meckel Syndrome, Type 1	Accessory spleen, Hypoplasia of the bladder, Renal agenesis, Intestinal malrotation, Malformation...	OMIM:249000
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Renal Cysts And Diabetes Syndrome	Elevated hepatic transaminase, Multiple glomerular cysts, Hypospadias, Abnormality of the kidney,...	OMIM:137920
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Respiratory distress, Short stature, Cyst of the ductus choledochus, Hydronephrosis, Hypoplastic ...	ORPHA:480880
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated hepatic transaminase, Recurrent urinary tract infections, Intestinal malrotation, Portal...	OMIM:613658
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Hepatomegaly, Proteinuria, Splenomegaly, Recurrent pneumonia, Nephrotic syn...	OMIM:617303
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum...	ORPHA:2590
Joubert Syndrome With Hepatic Defect	Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, P...	ORPHA:1454
Primary Sclerosing Cholangitis	Acute hepatic failure, Hepatic fibrosis, Neoplasm of the gallbladder, Adenocarcinoma of the large...	ORPHA:171
Congenital Arthrogryposis With Anterior Horn Cell Disease	Neonatal death, Cryptorchidism, Respiratory failure, Respiratory insufficiency due to muscle weak...	OMIM:611890
Glycogen Storage Disease Xii	Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransferase concentration...	OMIM:611881
Peutz-Jeghers Syndrome	Pancreatic adenocarcinoma, Intestinal obstruction, Biliary tract neoplasm, Enlarged polycystic ov...	ORPHA:2869
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi...	OMIM:619463
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Hepatic steatosis, Pancreatitis, Polycystic ovaries	ORPHA:79084
Meckel Syndrome, Type 10	Malformation of the hepatic ductal plate, Micropenis, Hypospadias, Renal cyst	OMIM:614175
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Renal malrotation, Pancreatic cysts, Patent ductus arteriosus, Dilatation o...	OMIM:274000
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Splenomegaly, Restrictive ventilatory defect, Interstitial pneumonitis, Respiratory...	OMIM:620296
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Short stature, Nephropathy, Chronic kidney disease, Renal cyst, Gout, Focal segmental glomerulosc...	OMIM:617056
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatocel...	OMIM:601847
Retinitis Pigmentosa 59	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Cryptorchidism, Micropenis	OMIM:613861
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Glomerulonephritis, Crackles, Cardiomegaly, Dyspnea, Hepatosplenomegaly, Restrictiv...	ORPHA:99931
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Hepatomegaly, Hyperphosphaturia, Proteinuria, Respiratory insufficiency due...	OMIM:220110
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice	OMIM:243300
Lambert Syndrome	Jaundice, Intrahepatic biliary atresia, Hypospadias, Cholestasis	ORPHA:1296
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Thrombocytopenia, Jaundice, Splenomegaly, Lymphadenopathy, Hemophagocytosis, Neutro...	OMIM:603552
Mitochondrial Complex I Deficiency, Nuclear Type 18	Death in infancy, Respiratory failure, Hydroureter, Hydronephrosis	OMIM:618240
Immunodeficiency 95	Respiratory distress, Respiratory failure, Recurrent viral pneumonia	OMIM:619773
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Chronic active hepatitis, Asplenia, Nephrocalcinosis, Cholelithiasis	OMIM:240300
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatocellular adenoma, Polycystic ova...	ORPHA:79240
Primary Biliary Cholangitis	Portal hypertension, Celiac disease, Jaundice, Hepatitis, Biliary cirrhosis, Abnormal intrahepati...	ORPHA:186
Glycine Encephalopathy 2	Respiratory failure	OMIM:620398
Developmental And Epileptic Encephalopathy 71	Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency	OMIM:618328
Anemia, Congenital Dyserythropoietic, Type Ib	Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Joubert Syndrome 20	Respiratory insufficiency, Renal cyst	OMIM:614970
Tyrosinemia, Type I	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Renal insufficiency, Splenome...	OMIM:276700
Dominant Beta-Thalassemia	Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra...	ORPHA:231226
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia	ORPHA:100024
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Hepatomegaly, Death in infancy, Tachypnea, Respiratory insufficiency, Respi...	OMIM:614299
Cyanosis, Transient Neonatal	Hepatomegaly, Jaundice	OMIM:613977
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Viral hepatitis, Hepatocellular carcinoma, Portal inflammation, St...	ORPHA:101330
Duodenal Atresia	Abnormality of the pancreas, Annular pancreas, Duodenal atresia	ORPHA:1203
Arthrogryposis Multiplex Congenita 6	Death in infancy, Hypospadias, Respiratory failure, Death in childhood, Neonatal death	OMIM:619334
Cholestasis, Progressive Familial Intrahepatic, 4	Portal hypertension, Intrahepatic cholestasis, Cirrhosis, Hepatocellular carcinoma, Hepatic failure	OMIM:615878
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Short stature, Renal hypoplasia/aplasia, Cryptorchidism, Respiratory insufficiency, Multiple rena...	ORPHA:1166
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Jaun...	OMIM:607765
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Intrauterine growth retardation, Respiratory failure, Dyspnea	ORPHA:1832
Nemaline Myopathy 8	Death in infancy, Respiratory failure	OMIM:615348
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Joubert Syndrome 16	Renal cyst, Nephronophthisis	OMIM:614465
Citrullinemia Type Ii	Elevated hepatic transaminase, Hepatomegaly, Enuresis, Hepatic fibrosis, Hepatocellular carcinoma...	ORPHA:247585
Triosephosphate Isomerase Deficiency	Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Splenom...	OMIM:615512
Gillessen-Kaesbach-Nishimura Syndrome	Periportal fibrosis, Polycystic kidney dysplasia	OMIM:263210
Genitopalatocardiac Syndrome	Cleft palate, Hypospadias, Renal cyst	OMIM:231060
Bile Acid Conjugation Defect 1	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c...	OMIM:619232
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic aciduria, Hepatic necrosis, My...	ORPHA:71212
Glycogen Storage Disease Ixb	Splenomegaly, Hepatomegaly, Increased hepatic glycogen content	OMIM:261750
Alg1-Cdg	Renal insufficiency, Abnormality of the kidney, Nephrotic syndrome, Respiratory failure, Decrease...	ORPHA:79327
Dpm1-Cdg	Elevated hepatic transaminase, Hepatomegaly, High, narrow palate, Hepatosplenomegaly, Hepatic fib...	ORPHA:79322
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Propionic Acidemia	Hepatomegaly, Organic aciduria	ORPHA:35
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Respiratory failure, Short stature	OMIM:600561
Vacterl Association With Hydrocephalus	Respiratory failure, Stillbirth, Renal hypoplasia, Respiratory insufficiency	OMIM:276950
Igg4-Related Ophthalmic Disease	Sinusitis, Cholangitis, Abnormality of the kidney, Keratitis, Retroperitoneal fibrosis, Orchitis,...	ORPHA:449563
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Lymphadenitis, Leukocytosis, Splenomegaly, Cholestas...	OMIM:615895
Congenital Alveolar Capillary Dysplasia	Asplenia, Absent gallbladder, Annular pancreas, Hydronephrosis	ORPHA:210122
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
3-Methylglutaconic Aciduria Type 7	Elevated hepatic transaminase, Renal insufficiency, Pneumothorax, Renal cyst, Growth delay, Nephr...	ORPHA:445038
Denys-Drash Syndrome	Diffuse mesangial sclerosis, Neonatal respiratory distress, Nephroblastoma, Stage 5 chronic kidne...	OMIM:194080
Hepatitis, Fulminant Viral, Susceptibility To	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Hepatic failure	OMIM:618549
Leigh Syndrome	Hepatocellular necrosis	OMIM:256000
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Hepatic steatosis, Tubuloin...	ORPHA:79259
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Renal insufficiency	ORPHA:28
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Multicystic kidney dysplasia	ORPHA:3270
Hereditary Hemorrhagic Telangiectasia	Portal hypertension, Nephrolithiasis, Hematuria, Cholecystitis, Cirrhosis, Cholelithiasis, Hepati...	ORPHA:774
Distal Duplication 5Q	Cryptorchidism, Hypospadias, Aplasia/Hypoplasia of the gallbladder	ORPHA:96097
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Esophageal neoplasm, Hepatomegaly, Ascites, Abnormal large intestine morphology	ORPHA:2198
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Hemolytic anemia, Follicular hyperplasia, Autoimmune thrombocytopenia...	OMIM:614470
Beta-Thalassemia Major	Hypoparathyroidism, Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemogl...	ORPHA:231214
Cimdag Syndrome	Microvesicular hepatic steatosis, Cholelithiasis, Hepatomegaly	OMIM:619273
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Malabsorption, Lymphadenopathy	ORPHA:42642
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Intestinal obstruction, Porta...	ORPHA:131
Congenital Myopathy 14	Respiratory insufficiency due to muscle weakness, Death in infancy, Respiratory failure, Apnea	OMIM:618414
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:610539
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, St...	OMIM:235555
Lysinuric Protein Intolerance	Decreased response to growth hormone stimulation test, Tubulointerstitial nephritis, Renal fibros...	ORPHA:470
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Steatorrhea, Exocrine panc...	OMIM:612714
Trisomy X	Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:3375
Trimethylaminuria	Splenomegaly, Anemia, Neutropenia	OMIM:602079
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Hepatic fibrosis, Intrahepatic bile duct dilatation, Hepatomegaly,...	OMIM:619534
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis	ORPHA:59303
Mitochondrial Complex I Deficiency, Nuclear Type 3	Hepatomegaly	OMIM:618224
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Elevated hepatic transaminase, Acute respiratory distress syndrome, Portal hype...	OMIM:620005
Pentalogy Of Cantrell	Absent gallbladder, Renal agenesis, Hypospadias, Polysplenia, Renal dysplasia	ORPHA:1335
Aicardi-Goutieres Syndrome 6	Splenomegaly, Hepatomegaly, Hemolytic anemia, Thrombocytopenia	OMIM:615010
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24	Biliary atresia	ORPHA:565899
Perlman Syndrome	Hepatomegaly, Abnormal pancreas morphology, High, narrow palate, Cryptorchidism	ORPHA:2849
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated hepatic transaminase, Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency,...	ORPHA:93111
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Hepatomegaly, Abnormality of the urinary system	ORPHA:2204
Niemann-Pick Disease, Type B	Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia	OMIM:607616
Neuromyelitis Optica Spectrum Disorder	Respiratory failure, Functional abnormality of the bladder, Optic neuritis, Myelitis	ORPHA:71211
Pontocerebellar Hypoplasia, Type 4	Death in infancy, Respiratory failure	OMIM:225753
Congenital Muscular Dystrophy With Intellectual Disability	Cryptorchidism, Respiratory failure, Respiratory insufficiency, Micropenis	ORPHA:370968
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatomegaly, Respiratory failure, Hepatic steatosis, Cirrhosis	ORPHA:363400
Carcinoid Syndrome	Elevated hepatic transaminase, Hepatic necrosis	ORPHA:100093
Generalized Pseudohypoaldosteronism Type 1	Cholelithiasis	ORPHA:171876
Metachromatic Leukodystrophy	Abnormal gallbladder morphology, Urinary incontinence, Hemobilia, Neoplasm of the gallbladder	ORPHA:512
Birt-Hogg-Dube Syndrome 1	Renal neoplasm, Renal cyst, Renal cell carcinoma, Large intestinal polyposis, Colon cancer	OMIM:135150
Trichohepatoenteric Syndrome 1	Hepatomegaly, Villous atrophy, Hypospadias, Splenomegaly, Abnormality of the pancreas, Jaundice, ...	OMIM:222470
Joubert Syndrome 7	Central apnea, Episodic tachypnea, Tachypnea, Stage 5 chronic kidney disease, Renal cyst, Nephron...	OMIM:611560
Sickle Cell Anemia	Pigment gallstones, Abnormality of the spleen, Cholestasis	ORPHA:232
Niemann-Pick Disease, Type C2	Hepatomegaly, Death in infancy, Neonatal respiratory distress, Splenomegaly, Jaundice, Respirator...	OMIM:607625
Axial Mesodermal Dysplasia Spectrum	Renal hypoplasia/aplasia, Abnormality of the spleen, Abnormality of the ureter, Tracheoesophageal...	ORPHA:1834
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hepatomegaly, Increased urine succinate level, Elevated circulating aspartate aminotransferase co...	OMIM:619048
Ceroid Lipofuscinosis, Neuronal, 10	Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency	OMIM:610127
Neutral Lipid Storage Disease With Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis	OMIM:610717
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Esophageal stricture, Leukopenia, Hepatic fibrosis, Bone marrow hy...	OMIM:613989
Prune Belly Syndrome	Multicystic kidney dysplasia, Renal insufficiency, Hydroureter, Intestinal malrotation, Recurrent...	ORPHA:2970
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency	OMIM:614399
Gaucher Disease Type 2	Splenomegaly, Hepatomegaly	ORPHA:77260
8P Inverted Duplication/Deletion Syndrome	Cryptorchidism, Abnormality of the urinary system, Aplasia/Hypoplasia of the gallbladder, Micrope...	ORPHA:96092
Mitochondrial Pyruvate Carrier Deficiency	Hepatomegaly, Organic aciduria	OMIM:614741
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Renal hypoplasia, Renal cyst, Ureteral agenesis, Stillbirth, Neonatal death, Renal dysplasia	OMIM:236500
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney	OMIM:618272
Say Syndrome	Proximal renal tubular acidosis, Cleft palate, Cystic renal dysplasia	OMIM:181180
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Hepatosplenomegaly	OMIM:273680
Aceruloplasminemia	Refractory anemia, Abnormal pancreas morphology, Hypochromic microcytic anemia, Hepatic fibrosis,...	ORPHA:48818
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Abnormal mesentery morphology, Abnorma...	ORPHA:2075
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Renal insufficiency, Ascites, Renal hypoplasia/aplasia	ORPHA:2123
Hereditary Elliptocytosis	Splenomegaly, Jaundice, Cholelithiasis, Prolonged neonatal jaundice	ORPHA:288
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Death in infancy, Proteinuria, Renal c...	OMIM:212065
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Macroglossia, Hepatomegaly, Abnormality of the liver, High palate	ORPHA:254864
Harderoporphyria	Hepatomegaly, Increased urine harderoporphyrin level, Splenomegaly, Red urine, Increased urinary ...	OMIM:618892
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Apnea, Cryptorchidism, Jaundice, Aminoaciduria, Hy...	OMIM:214110
Hereditary Spherocytosis	Splenomegaly, Hepatomegaly, Jaundice, Cholelithiasis	ORPHA:822
17Q12 Microdeletion Syndrome	Elevated hepatic transaminase, Multicystic kidney dysplasia, Renal insufficiency, Renal hypoplasi...	ORPHA:261265
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Ascites, Polycystic kidney dysplasia, Hepatosplenomegaly	OMIM:608776
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:79292
Combined Oxidative Phosphorylation Deficiency 1	Fulminant hepatic failure, Hepatomegaly, Cholestasis	OMIM:609060
Congenital Disorder Of Glycosylation, Type Iik	Hemolytic-uremic syndrome, Hepatomegaly, Elevated circulating alanine aminotransferase concentrat...	OMIM:614727
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly	OMIM:615924
Argininosuccinic Aciduria	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Aminoaciduria, Hepat...	OMIM:207900
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Death in infancy, Respiratory failure, Apnea	OMIM:616277
Mitochondrial Trifunctional Protein Deficiency 1	Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Res...	OMIM:609015
Hemochromatosis, Type 2A	Splenomegaly, Hepatomegaly, Cirrhosis	OMIM:602390
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Proteinuria, Jaundice, Nephroc...	OMIM:613404
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Inflammation of the large i...	OMIM:300635
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Esophageal stricture, Hepatic fibrosis, Bone marrow hypocellularit...	OMIM:224230
Ppoma	Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah...	ORPHA:97278
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Cryptorchidism, Micropenis, Cholelithiasis, Decreased testicular size	OMIM:300534
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Respiratory failure, Hepatic steatosis, Decreased liver function	ORPHA:70472
Gapo Syndrome	Hepatomegaly, Hypoplastic nipples, Breast hypoplasia, Tubulointerstitial fibrosis	OMIM:230740
Syndromic Diarrhea	Hepatomegaly, Villous atrophy, Gastritis, Splenomegaly, Renal hypoplasia, Abnormality of the live...	ORPHA:84064
Diaphanospondylodysostosis	Multiple renal cysts, Cleft palate	ORPHA:66637
Renal Hypoplasia, Bilateral	Neonatal respiratory distress, Short stature, Proteinuria, Cryptorchidism, Chronic kidney disease...	ORPHA:97362
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Aplasia/Hypoplasia of the pancreas	ORPHA:65288
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Hepatomegaly, Hyperparathyroidism, Anemia	OMIM:618107
Cardiomyopathy, Familial Restrictive, 6	Hepatomegaly, Portal vein hypoplasia, Ascites	OMIM:619433
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp...	ORPHA:254875
Acute Lung Injury	Respiratory distress, Acute pancreatitis, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory f...	ORPHA:178320
Aicardi-Goutieres Syndrome 4	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thro...	OMIM:610333
Congenital Disorder Of Glycosylation, Type Ik	Splenomegaly, Hepatomegaly	OMIM:608540
Galactosemia I	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:230400
Cog7-Cdg	Elevated hepatic transaminase, Hepatomegaly, Abnormality of the kidney, Jaundice, Hepatosplenomegaly	ORPHA:79333
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Cholelithiasis	OMIM:618775
Lipodystrophy, Congenital Generalized, Type 3	Splenomegaly, Hepatomegaly, Hepatic steatosis, Hepatosplenomegaly	OMIM:612526
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Celiac ...	OMIM:619375
Inflammatory Pseudotumor Of The Liver	Elevated circulating aspartate aminotransferase concentration, Abnormal liver sonography, Elevate...	ORPHA:90003
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly	OMIM:306000
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr...	OMIM:618528
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:615085
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Neonatal death, Urethral atresia, Hydronephrosis, Enlarged kidney	OMIM:314390
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio...	OMIM:256810
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Spondylometaphyseal Dysplasia, X-Linked	Respiratory failure, Severe short stature, Respiratory insufficiency	OMIM:313420
Renal Coloboma Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal...	ORPHA:1475
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I...	OMIM:602522
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Vesicoureteral reflux, Renal ...	OMIM:130650
Meckel Syndrome 13	Polycystic kidney dysplasia	OMIM:617562
Radio-Renal Syndrome	Respiratory distress, Multicystic kidney dysplasia, Severe short stature, Renal agenesis, Renal h...	ORPHA:3015
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia, Lymphopenia	OMIM:619164
Adult Acute Respiratory Distress Syndrome	Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level, Pancreatitis	ORPHA:70578
Dehydrated Hereditary Stomatocytosis	Portal vein thrombosis, Cholelithiasis, Splenomegaly, Intermittent jaundice	ORPHA:3202
Farber Disease	Elevated hepatic transaminase, Respiratory distress, Short stature, Intrahepatic cholestasis with...	ORPHA:333
Meckel Syndrome 14	Cardiorespiratory arrest, Pneumothorax, Hepatic fibrosis, Polycystic kidney dysplasia	OMIM:619879
Multiple Mitochondrial Dysfunctions Syndrome 1	Increased urine alpha-ketoglutarate concentration, Death in infancy, Alpha-aminoadipic aciduria, ...	OMIM:605711
Ornithine Transcarbamylase Deficiency	Splenomegaly, Hepatic failure, Pyloric stenosis	ORPHA:664
Klatskin Tumor	Hepatomegaly, Jaundice, Cholangiocarcinoma, Extrahepatic cholestasis	ORPHA:99978
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Esophageal varix, Ascites, Steatorrhea, Hepat...	ORPHA:75233
Mody	Abnormality of the kidney, Hepatocellular adenoma, Renal cyst, Glycosuria, Nephropathy, Pancreati...	ORPHA:552
X-Linked Sideroblastic Anemia	Elevated hepatic transaminase, Splenomegaly, Anemia	ORPHA:75563
Tropical Pancreatitis	Pancreatic adenocarcinoma, Jaundice, Chronic calcifying pancreatitis, Abnormal pancreatic duct mo...	ORPHA:103918
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Hematuria, Renal insufficiency, Renal cyst	OMIM:611773
Porphyria, Congenital Erythropoietic	Hepatomegaly, Splenomegaly, Jaundice, Red urine, Cholelithiasis, Pink urine	OMIM:263700
Joubert Syndrome 1	Central apnea, Episodic tachypnea, Renal cyst, Hepatic fibrosis, Nephropathy, Neonatal breathing ...	OMIM:213300
H Syndrome	Psoriasiform dermatitis, Short stature, Abnormality of the kidney, Bronchiectasis, Hepatosplenome...	ORPHA:168569
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i...	OMIM:615234
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Cardiomeg...	ORPHA:308552
Scedosporiosis	Pericarditis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Pneumonia, Bronchial breath sound, ...	ORPHA:449280
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Renal tubular dysfunction, Hepatomegaly, Renal insufficiency, Pancreatitis	ORPHA:289916
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Colitis, Hemophagocytosis, Thrombocyto...	OMIM:613101
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis,...	ORPHA:157
Bardet-Biedl Syndrome 1	Aganglionic megacolon, Abnormality of the kidney, High, narrow palate, Biliary tract abnormality,...	OMIM:209900
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor...	OMIM:612840
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia	ORPHA:158029
Pancreatitis, Hereditary	Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pancreatitis, Exocrine pancreatic i...	OMIM:167800
Leber Congenital Amaurosis 1	Hepatomegaly, Hyperthreoninuria	OMIM:204000
Pyruvate Carboxylase Deficiency	Hepatomegaly, Proximal renal tubular acidosis	OMIM:266150
Steinfeld Syndrome	Absent gallbladder, Unilateral renal dysplasia	OMIM:184705
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio	OMIM:618495
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Anemia	ORPHA:1802
Grfoma	Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah...	ORPHA:97261
Cirrhosis, Familial	Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Esophageal varix, Incre...	OMIM:215600
Hemochromatosis, Type 4	Hepatomegaly, Hepatic steatosis, Cirrhosis	OMIM:606069
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py...	ORPHA:766
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
Vacterl/Vater Association	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A...	ORPHA:887
Combined Oxidative Phosphorylation Deficiency 28	Respiratory failure	OMIM:616794
Multiple Mitochondrial Dysfunctions Syndrome 3	Intrauterine growth retardation, Respiratory failure, Beta-aminoisobutyric aciduria, Respiratory ...	OMIM:615330
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos...	ORPHA:98848
Muscular Dystrophy, Congenital, 1B	Respiratory failure	OMIM:604801
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Ketonuria, Elevated circulating alanine aminotransferase concentration, Renal steat...	OMIM:261680
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia	ORPHA:37748
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia	ORPHA:721
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Pneumocystosis	Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins...	ORPHA:723
Activated Pi3K-Delta Syndrome	Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia, Abnormal i...	ORPHA:397596
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Congenital Disorder Of Glycosylation, Type Iij	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic failure	OMIM:613489
3-Methylglutaconic Aciduria, Type Viii	Death in infancy, Apnea, Jaundice, Growth delay, Hypopnea, Respiratory failure, 3-Methylglutaric ...	OMIM:617248
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Splenomegaly, Nephrotic syndrome, High palate, Ascites	OMIM:269920
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hepatic steatosis, Pan...	OMIM:618805
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated hepatic transaminase, Increased inflammatory response, Skin rash, Tachypnea, Hypoxemia, ...	ORPHA:542323
Hyperparathyroidism, Transient Neonatal	Respiratory distress, Hyperparathyroidism, Unilateral renal agenesis, Ovarian cyst, Splenic cyst,...	OMIM:618188
Mitochondrial Myopathy, Infantile, Transient	Macroglossia, Hepatomegaly	OMIM:500009
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Splenomegaly, Renal hypoplasia, Respiratory insufficiency, Periportal fibrosis, Hyp...	OMIM:269860
Boutonneuse Fever	Elevated hepatic transaminase, Renal insufficiency, Maculopapular exanthema, Skin rash, Respirato...	ORPHA:83313
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt...	OMIM:615513
Sialidosis Type 2	Splenomegaly, Hepatomegaly, Nephropathy, Ascites	ORPHA:87876
Meacham Syndrome	Accessory spleen, Death in infancy, Horseshoe kidney, Stillbirth, Death in childhood, Neonatal de...	OMIM:608978
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Deafness-Lymphedema-Leukemia Syndrome	Chronic otitis media, Hepatomegaly, Respiratory failure, Splenomegaly	ORPHA:3226
Basel-Vanagaite-Smirin-Yosef Syndrome	Cholelithiasis, Male urethral meatus stenosis, Hydronephrosis, Hypospadias	ORPHA:464738
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Zellweger Syndrome	Hepatomegaly, Multicystic kidney dysplasia, Death in infancy, Short stature, Hypospadias, Cryptor...	ORPHA:912
Babesiosis	Hepatomegaly, Renal insufficiency, Splenomegaly, Jaundice, Hepatic failure	ORPHA:108
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Respiratory failure	OMIM:618637
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614582
Hurler-Scheie Syndrome	Splenomegaly, Hepatomegaly, Abnormality of the tonsils	ORPHA:93476
Gaucher Disease, Type Iii	Splenomegaly, Hepatomegaly, Pancytopenia, Thrombocytopenia	OMIM:231000
Ciliary Dyskinesia, Primary, 5	Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Respiratory failure, Respirat...	OMIM:608647
Lysosomal Acid Lipase Deficiency	Elevated hepatic transaminase, Fatal liver failure in infancy, Renal salt wasting, Hypersplenism,...	ORPHA:275761
Congenital Toxoplasmosis	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Jaundice, Ascites	ORPHA:858
Intellectual Developmental Disorder, Autosomal Recessive 41	Splenomegaly, Hepatomegaly, High palate	OMIM:615637
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ...	ORPHA:75564
Dihydrolipoamide Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Decreased liver function	OMIM:246900
Cold Agglutinin Disease	Splenomegaly, Hepatomegaly, Hemolytic anemia, Lymphadenopathy	ORPHA:56425
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hepatomegaly, Ketonuria, High palate, Renal hypoplasia	OMIM:619053
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, High, narrow palate, Red-brown urine, R...	ORPHA:228308
Hypouricemia, Renal, 1	Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co...	OMIM:220150
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Short stature, Macroscopic hematuria, Dela...	ORPHA:251004
Immunodeficiency, Common Variable, 2	Splenomegaly, Hepatomegaly, Follicular hyperplasia, Lymphadenopathy	OMIM:240500
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Splenomegaly, Hepatomegaly, Renal insufficiency, Pancreatitis	ORPHA:79312
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl...	ORPHA:480536
Hb Bart'S Hydrops Fetalis	Splenomegaly, Hepatomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartat...	OMIM:255120
Asbestos Intoxication	Reduced vital capacity, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wheezing, La...	ORPHA:2302
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Classic Mycosis Fungoides	Splenomegaly, Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:2584
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia	ORPHA:79477
Cryoglobulinemic Vasculitis	Hepatomegaly, Renal insufficiency, Viral hepatitis, Proteinuria, Glomerulopathy, Splenomegaly, He...	ORPHA:91138
Transketolase Deficiency	Hepatomegaly, Increased level of ribose in urine, Proportionate short stature, Seborrheic dermati...	ORPHA:488618
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Proteinuria, Heparan sulfate excretion in urine, Hepatosplenomegaly, Strido...	ORPHA:505248
Familial Adenomatous Polyposis 4	Ovarian cyst, Renal cyst	OMIM:617100
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hepatomegaly, Macrovesicular hepatic steatosis	OMIM:618234
Listeriosis	Respiratory distress, Liver abscess, Conjunctivitis, Cholecystitis, Infectious encephalitis, Pyel...	ORPHA:533
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated hepatic transaminase, Hepatomegaly, Hyperglycinuria, Medium chain dicarboxylic aciduria,...	OMIM:201450
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H...	OMIM:615122
Hyperekplexia 4	Respiratory failure	OMIM:618011
Apolipoprotein C-Ii Deficiency	Splenomegaly, Hepatomegaly, Pancreatitis	OMIM:207750
Trisomy 8P	Cryptorchidism, Fetal pyelectasis, Annular pancreas, Nephrocalcinosis, Aplasia/Hypoplasia of the ...	ORPHA:264450
Free Sialic Acid Storage Disease	Hepatomegaly, Proteinuria, Splenomegaly, Nephrotic syndrome, Ascites	ORPHA:834
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Bile duct polyp, Rectal prolapse, Biliary tract abnormality, Multiple g...	OMIM:175200
Mitochondrial Trifunctional Protein Deficiency	Hypoparathyroidism, Respiratory insufficiency, Cholestasis, Respiratory failure, Left ventricular...	ORPHA:746
Congenital Tricuspid Valve Dysplasia	Respiratory failure requiring assisted ventilation, Hepatomegaly, Cardiomegaly, Tachypnea, Hypoxe...	ORPHA:555874
Bardet-Biedl Syndrome 6	Hypospadias, Renal cyst	OMIM:605231
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hepatomegaly, Lacticaciduria, Renal hypoplasia, Aminoaciduria, 3-Methylglutaconic aciduria	OMIM:604273
Dyskeratosis Congenita, Autosomal Dominant 1	Cirrhosis, Oral leukoplakia, Hepatic necrosis	OMIM:127550
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Urinary incontinence, Tachypnea, Respiratory failure, Intrauterine growth retardation, Inspirator...	OMIM:604320
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p...	OMIM:610921
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Hepatic failure, Hepatic steatosis	OMIM:617872
Crome Syndrome	Renal tubular epithelial necrosis	OMIM:218900
Craniofacioskeletal Syndrome	Absent gallbladder, Hypospadias, Hydronephrosis, Cryptorchidism	OMIM:300712
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, ...	OMIM:265120
Cerebrotendinous Xanthomatosis	Cholelithiasis	OMIM:213700
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Lipodystrophy, Familial Partial, Type 1	Hepatomegaly, Acute pancreatitis	OMIM:608600
Thoraco-Abdominal Enteric Duplication	Hepatomegaly, Intestinal malrotation, Duodenal stenosis	ORPHA:1759
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Respiratory insufficiency due to muscle weakness, Dyspnea, Respiratory failure, Nephrolithiasis	ORPHA:352447
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Cardiomegaly, Splenomegaly, Recurrent pneumonia, Growth delay, Severe postnatal gro...	OMIM:252500
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Pancreatic Agenesis-Holoprosencephaly Syndrome	Absent gallbladder, Pancreatic aplasia	ORPHA:556955
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:601859
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Bile Acid Synthesis Defect, Congenital, 4	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate...	OMIM:214950
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Renal insufficiency, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial ne...	ORPHA:228302
Pancreatic Agenesis 2	Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Steatorrhea, Pancreatic aplasia	OMIM:615935
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Splenomegaly, Cleft palate, Leukopenia, Lymphopenia	OMIM:620210
Hereditary Chronic Pancreatitis	Leukocytosis, Jaundice, Recurrent pancreatitis, Pancreatic calcification	ORPHA:676
Immunodeficiency, Common Variable, 1	Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo...	OMIM:607594
Liver Failure, Infantile, Transient	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, 3-hydroxydicarboxylic aciduri...	OMIM:613070
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Thrombocytopenia, Jaundice, S...	ORPHA:905
Verheij Syndrome	Cleft palate, Renal agenesis, Renal hypoplasia, Renal cyst	OMIM:615583
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Hepatomegaly, Proteinuria, Glomerulonephritis, Supernumerary nipple, Stage 5 chronic kidney disea...	OMIM:614376
Peroxisome Biogenesis Disorder 13A (Zellweger)	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio...	OMIM:614887
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Ureteral duplication, Biliary atresia, Pancreatic aplasia, Aplasia/Hypoplasia of the gallbladder,...	ORPHA:2255
Infantile Liver Failure Syndrome 1	Acute hepatic failure, Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase	OMIM:615438
Pulmonary Alveolar Microlithiasis	Hepatomegaly, Calcium nephrolithiasis, Increased pulmonary vascular resistance, Nonproductive cou...	ORPHA:60025
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Fanconi-Bickel Syndrome	Hepatomegaly, Hyperphosphaturia, Elevated circulating aspartate aminotransferase concentration, H...	ORPHA:2088
Matthew-Wood Syndrome	Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Duodenal stenosis, Horsesho...	ORPHA:2470
Adams-Oliver Syndrome	Portal hypertension, Congenital hepatic fibrosis, Esophageal varix, Leukopenia, Cirrhosis, Ascite...	ORPHA:974
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Severe short stature, Rhizomelia, Urinary incontinence, Disp...	OMIM:616482
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Macrovesicular hepatic steatosis, Cardiomegaly	OMIM:600649
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Reticulocytosis, Splenomegaly, Thrombocytopenia, Anemia	OMIM:611490
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated hepatic transaminase, Growth delay, Abnormality of the liver, Respiratory failure, Hepat...	ORPHA:88618
Odontochondrodysplasia 1	Respiratory distress, Death in infancy, Short stature, Mesomelic short stature, Polycystic kidney...	OMIM:184260
Combined Oxidative Phosphorylation Deficiency 19	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat...	OMIM:615595
Carnitine Palmitoyl Transferase 1A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Renal tubular acidosis	ORPHA:156
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Short stature, Polycystic kidney dysplasia, Micropenis, Renal dysplasia, Enlarged kidney	OMIM:613091
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf...	ORPHA:36238
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Short stature, Cryptorchidism, Respiratory failure, Death in childhood, Micropenis	OMIM:619847
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Thromb...	ORPHA:507
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Renal insufficiency, Pancreatitis	ORPHA:27
Acute Liver Failure	Elevated hepatic transaminase, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellular necrosis, He...	ORPHA:90062
Primary Ciliary Dyskinesia	Neonatal respiratory distress, Productive cough, Asplenia, Wheezing, Bronchiectasis, Respiratory ...	ORPHA:244
Classic Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:391
Congenital Myopathy 21 With Early Respiratory Failure	Dyspnea, Intrauterine growth retardation, Respiratory failure, Nocturnal hypoventilation	OMIM:620326
Congenital Multicore Myopathy With External Ophthalmoplegia	Pneumonia, Cryptorchidism, Abnormal respiratory system physiology, Severe postnatal growth retard...	ORPHA:98905
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Femoral-Facial Syndrome	Renal hypoplasia/aplasia, Cryptorchidism, Long penis, Cleft palate, Abnormal localization of kidn...	ORPHA:1988
Hereditary Motor And Sensory Neuropathy, Type Iic	Short stature, Urinary incontinence, Stridor, Urinary urgency, Respiratory failure, Intercostal m...	OMIM:606071
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Splenomegaly, Hepatomegaly, Reduced renal corticomedullary differentiation	OMIM:618541
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Hepatomegaly, Renal agenesis, Cardiomegaly, Asplenia, Biliary atresia, Hors...	OMIM:306955
Hemihyperplasia-Multiple Lipomatosis Syndrome	Seborrheic dermatitis, Hydrocele testis, Nephroblastoma, Ovarian serous cystadenoma, Enlarged kidney	ORPHA:276280
Snakebite Envenomation	Epistaxis, Respiratory failure, Respiratory paralysis, Hypopituitarism, Acute kidney injury	ORPHA:449285
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ...	OMIM:209950
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Splenomegaly, Cirrhosis, Hepatocellula...	OMIM:235200
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly	OMIM:619064
Fanconi Anemia, Complementation Group Q	Anteriorly placed anus, Esophageal atresia, Biliary atresia, Bone marrow hypocellularity	OMIM:615272
Lathosterolosis	Elevated hepatic transaminase, Bilobate gallbladder, Intrahepatic cholestasis, Horseshoe kidney, ...	OMIM:607330
Trichohepatoneurodevelopmental Syndrome	Hepatomegaly, Splenomegaly, Recurrent pancreatitis, Decreased liver function, Hypoplastic nipples...	OMIM:618268
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Pleural Mesothelioma	Hepatomegaly	ORPHA:50251
Peroxisome Biogenesis Disorder 5A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Death in infancy, Hypospadias, Elevated circulatin...	OMIM:614866
Bohring-Opitz Syndrome	Cholelithiasis, Nephroblastoma, Urinary retention, Annular pancreas	ORPHA:97297
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, ...	OMIM:308240
Ogden Syndrome	Global glomerulosclerosis, Short stature, Eczema, Apnea, Cardiomegaly, Postnatal growth retardati...	OMIM:300855
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Urethral stricture, Renal cyst, Gastrointestinal inflammation, Aplasia/Hypo...	ORPHA:79404
Triploidy	Hepatomegaly, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Abnormality of the pancre...	ORPHA:3376
Congenital Neuronal Ceroid Lipofuscinosis	Neonatal respiratory distress, Apnea, Respiratory failure	ORPHA:168486
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Respiratory insufficiency, Res...	OMIM:613845
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Peptic ulce...	ORPHA:99880
Combined D-2- And L-2-Hydroxyglutaric Aciduria	Increased urine alpha-ketoglutarate concentration, Hepatomegaly, L-2-hydroxyglutaric aciduria, In...	OMIM:615182
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Ureteral stenosis, Hydroureter, Patent ductus arteriosus, Hypercalciuria, Renal cyst, Nephrocalci...	OMIM:615398
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Proteinuria, Nephrocalcinosis, Am...	OMIM:616026
Pyruvate Dehydrogenase E3 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Increased urine alpha-ketoglutarate...	ORPHA:2394
Bor Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cleft palate, Vesico...	ORPHA:107
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Peptic ulcer, Parathormone-independent increased renal tubular calcium reabs...	OMIM:600740
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder, Abnormal localization of kidney, Renal hypoplasia/aplasia	ORPHA:3186
Congenital Pulmonary Lymphangiectasia	Splenomegaly, Hepatomegaly, Ascites	ORPHA:2414
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Anal atresia, Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Renal hypoplasia...	ORPHA:2973
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Pyloric stenosis, Hepatitis, Ly...	ORPHA:381
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Elevated hepatic transaminase, Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomega...	ORPHA:158057
Immunodeficiency 109 With Lymphoproliferation	Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells	OMIM:620282
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs...	OMIM:226990
Geleophysic Dysplasia 3	Hepatomegaly, Short stature, Pneumonia, Dyspnea, Respiratory failure	OMIM:617809
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Hypospadias, Cryptorchidism, Micropenis, Hydronephrosis	ORPHA:163979
Peroxisome Biogenesis Disorder 7A (Zellweger)	Hepatomegaly, Jaundice, High palate	OMIM:614872
Niemann-Pick Disease, Type A	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cel...	OMIM:257200
Combined Oxidative Phosphorylation Deficiency 3	Death in infancy, Hepatomegaly, Dyspnea, Respiratory insufficiency, Respiratory failure, Death in...	OMIM:610505
Trisomy 10P	Absent gallbladder, Multiple renal cysts, Abnormality of the kidney	ORPHA:171929
Parathyroid Carcinoma	Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Peptic ulce...	ORPHA:143
Heme Oxygenase 1 Deficiency	Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Aspleni...	OMIM:614034
Spondyloenchondrodysplasia With Immune Dysregulation	Tubulointerstitial fibrosis	OMIM:607944
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Hepatic steatosis, Pancreatitis, Polycystic ovaries	ORPHA:435651
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Membranoproliferative glomeru...	OMIM:619644
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:85414
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Ileu...	ORPHA:83469
Neuraminidase Deficiency	Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Cardiomegaly, Spleno...	OMIM:256550
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Thr...	ORPHA:398124
Neuropathy, Congenital Hypomyelinating, 3	Neonatal death, Respiratory failure, Respiratory insufficiency	OMIM:618186
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force...	OMIM:610913
Senior-Loken Syndrome 3	Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis	OMIM:606995
Argininemia	Hepatomegaly, Micronodular cirrhosis, Cholestasis, Diaminoaciduria, Portal fibrosis, Oroticaciduria	OMIM:207800
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Cholelithiasis, Cholecystitis, Hepatosplenomegaly	OMIM:301066
Beckwith-Wiedemann Syndrome	Hepatomegaly, Ureteral duplication, Cardiomegaly, Splenomegaly, Cryptorchidism, Abnormal pancreas...	ORPHA:116
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit...	ORPHA:100086
Abetalipoproteinemia	Elevated hepatic transaminase, Hepatomegaly, Reticulocytosis, Cardiomegaly, Acanthocytosis, Hepat...	ORPHA:14
Joubert Syndrome 37	Hepatomegaly, Cryptorchidism, Hydronephrosis, High palate, Micropenis, Decreased testicular size	OMIM:619185
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hepatic steatosis, Polycystic ovaries	ORPHA:79085
Farber Lipogranulomatosis	Splenomegaly, Hepatomegaly, Lipogranulomatosis	OMIM:228000
Branchiootorenal Syndrome 1	Renal dysplasia, Renal malrotation, Intestinal malrotation, Unilateral renal agenesis, Renal stea...	OMIM:113650
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Intrauterine growth retardation, Respiratory failure, Hydronephrosis, Cryptorchidism	OMIM:620327
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, High palate, Thrombocytopenia	ORPHA:85212
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio...	OMIM:212140
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Short stature, Splenomegaly, Hepatosplenomegaly, Growth delay, Respiratory failure,...	OMIM:259720
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Diffuse pancreatic islet hyperplasia, Focal pancreatic islet hyperplasia, Hepatomegaly	ORPHA:276575
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Unilateral renal agenesis, Splenomegaly, Esophageal ...	OMIM:614576
Mucopolysaccharidosis, Type Iiib	Splenomegaly, Hepatomegaly, Heparan sulfate excretion in urine, Cardiomegaly	OMIM:252920
Pyruvate Dehydrogenase E1-Alpha Deficiency	Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress	OMIM:312170
Trichohepatoenteric Syndrome 2	Hepatomegaly, Villous atrophy, Chronic hepatitis, Colitis, Cirrhosis	OMIM:614602
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Anal fissure, Perianal abscess, Lymphadenitis, Splenomegaly...	OMIM:618935
Leprechaunism	Hepatomegaly, Enlarged ovaries, Postnatal growth retardation, Long penis, Hypercalciuria, Nephroc...	ORPHA:508
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Neonatal respiratory distress, Respiratory failure	OMIM:616867
Trisomy 13	Cryptorchidism, High, narrow palate, Patent ductus arteriosus, Abnormality of the ureter, Cleft p...	ORPHA:3378
Microgastria-Limb Reduction Defect Syndrome	Hepatomegaly, Multicystic kidney dysplasia, Renal agenesis, Intestinal malrotation, Hiatus hernia...	ORPHA:2538
Bardet-Biedl Syndrome 17	Polyuria, Micropenis, Stage 5 chronic kidney disease, Renal cyst	OMIM:615994
Atelosteogenesis Type I	Malrotation of colon, Multiple renal cysts, Abnormal pancreatic duct morphology, Cleft palate	ORPHA:1190
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Hepatomegaly	OMIM:615704
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Nocardiosis	Respiratory distress, Liver abscess, Lymphadenitis, Nonproductive cough, Conjunctivitis, Emphysem...	ORPHA:31204
Brain-Lung-Thyroid Syndrome	Hypoparathyroidism, Thyroid dysgenesis, Respiratory distress, Neonatal respiratory distress, Shor...	ORPHA:209905
Postsynaptic Congenital Myasthenic Syndromes	Orthopnea, Reduced vital capacity, Restrictive ventilatory defect, Respiratory failure, Exertiona...	ORPHA:98913
Pancreatic Agenesis 1	Pancreatic hypoplasia, Pancreatic aplasia, Exocrine pancreatic insufficiency	OMIM:260370
Cronkhite-Canada Syndrome	Intestinal polyposis, Hepatomegaly, Malabsorption, Splenomegaly, Furrowed tongue, Hamartomatous p...	ORPHA:2930
Intermediate Nemaline Myopathy	Respiratory failure	ORPHA:171433
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ...	ORPHA:824
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocyto...	OMIM:613011
Braddock-Carey Syndrome 1	Anteriorly placed anus, Multicystic kidney dysplasia, Cleft palate	OMIM:619980
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Cryptorchidism, Multicystic kidney dysplasia, Intestinal pseudo-obstruction, Fetal megacystis	ORPHA:73246
Trisomy 17P	Hypoplasia of penis, Urethral valve, Patent ductus arteriosus, Urethral stenosis, Cleft palate, M...	ORPHA:261290
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Pancreatic aplasia, Absent gallbladder, Elevated circulating alanine aminotransferase concentrati...	OMIM:618500
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy	OMIM:619183
Lethal Congenital Contracture Syndrome 2	Respiratory failure, Hydronephrosis	OMIM:607598
Central Hypoventilation Syndrome, Congenital, 3	Respiratory failure, Apnea, Central hypoventilation	OMIM:619483
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S...	OMIM:224120
Microcephaly, Amish Type	Hepatomegaly	OMIM:607196
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Neonatal death, Myoglobinuria, Decreased liver function	OMIM:602199
Congenital Disorder Of Deglycosylation 1	Elevated hepatic transaminase, Hepatomegaly, Heparan sulfate excretion in urine, 3-Methylglutacon...	OMIM:615273
Tropical Calcific Pancreatitis	Neoplasm of the pancreas, Pancreatic calcification, Chronic pancreatitis	OMIM:608189
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Hepatomegaly, High palate	ORPHA:50812
Joubert Syndrome 33	Splenomegaly	OMIM:617767
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Increased urine alpha-ketoglutarate concentration, Renal agenesis, Patent ductus arteriosus, Clef...	OMIM:220500
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Hyperzincemia With Functional Zinc Depletion	Hepatomegaly	OMIM:601979
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Respiratory failure	OMIM:613435
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone...	OMIM:301078
Developmental And Epileptic Encephalopathy 102	Hepatomegaly	OMIM:619881
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Esophageal varix, Hepatosplenom...	ORPHA:367
Heart Defects, Congenital, And Other Congenital Anomalies	Ureteral duplication, Absent gallbladder, Biliary atresia, Glycosuria, Pancreatic hypoplasia	OMIM:600001
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pancytopenia, Abnormality of the spleen, Thrombocytopenia, Splenomegaly, Esophageal varix, Hepato...	ORPHA:2072
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated urinary 3-hydroxybutyric acid, Dicarboxylic...	ORPHA:42
Hyperlipoproteinemia, Type Id	Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis	OMIM:615947
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated hepatic transaminase, Hepatomegaly, Red-brown urine, Myoglobinuria, Hepatic failure, Hep...	ORPHA:228305
Feingold Syndrome	Abnormality of the spleen, Annular pancreas, Esophageal atresia, Duodenal atresia	ORPHA:1305
Acute Interstitial Pneumonia	Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respiratory failure...	ORPHA:79126
Pallister-Hall Syndrome	Decreased testicular size, Thyroid dysgenesis, Renal dysplasia, Hydroureter, Decreased response t...	OMIM:146510
Macrophage Activation Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Thrombocytopenia, Sp...	ORPHA:158061
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Tachypnea, Respiratory insufficienc...	OMIM:618278
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Splen...	OMIM:616100
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Mitochondrial Complex I Deficiency, Nuclear Type 1	3-hydroxydicarboxylic aciduria, Hepatomegaly, Death in infancy, Apnea, Hypospadias, Splenomegaly,...	OMIM:252010
Turner Syndrome Due To Structural X Chromosome Anomalies	Ectopic kidney, Gastrointestinal inflammation, Inflammation of the large intestine, Hepatic fibro...	ORPHA:99413
Mosaic Monosomy X	Ectopic kidney, Gastrointestinal inflammation, Inflammation of the large intestine, Hepatic fibro...	ORPHA:99228
Monosomy X	Ectopic kidney, Gastrointestinal inflammation, Inflammation of the large intestine, Hepatic fibro...	ORPHA:99226
Turner Syndrome	Ectopic kidney, Gastrointestinal inflammation, Inflammation of the large intestine, Hepatic fibro...	ORPHA:881
Nabais Sa-De Vries Syndrome, Type 2	Multicystic kidney dysplasia, High palate, Bilateral cleft lip and palate	OMIM:618829
Mosaic Trisomy 1	Hepatic agenesis, Renal cortical cysts, Cleft palate, Renal cyst, Micropenis, Penile hypospadias	ORPHA:1692
Hypermanganesemia With Dystonia 1	Elevated hepatic transaminase, Hepatomegaly, Decreased liver function, Cirrhosis	OMIM:613280
Wolcott-Rallison Syndrome	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Renal insufficiency, Jaundice...	ORPHA:1667
Distal Triplication 15Q	Abnormality of the kidney, Patent ductus arteriosus, Dilatation of the renal pelvis, Horseshoe ki...	ORPHA:314588
Severe Combined Immunodeficiency, X-Linked	Hepatomegaly, Hypoplasia of the thymus	OMIM:300400
Gaucher Disease Type 1	Hepatomegaly, Proteinuria, Hypersplenism, Splenomegaly, Osteoarthritis, Growth delay, Hematuria, ...	ORPHA:77259
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym...	OMIM:602450
Joubert Syndrome 21	Apnea, Dyspnea, Splenomegaly, Renal cyst, Respiratory failure, Hyperechogenic kidneys, Chronic si...	OMIM:615636
Trisomy 1Q	Multicystic kidney dysplasia, Cryptorchidism, Patent ductus arteriosus, Cleft palate, Congenital ...	ORPHA:261344
Kleefstra Syndrome	Hypoplasia of penis, Renal insufficiency, Short stature, Hypospadias, Supernumerary nipple, Trach...	ORPHA:261494
Metatropic Dysplasia	Severe short stature, Disproportionate short-trunk short stature, Respiratory insufficiency, Resp...	OMIM:156530
Bardet-Biedl Syndrome 12	Hydronephrosis, Hydroureter, Abdominal mass, Cystic renal dysplasia	OMIM:615989
Shwachman-Diamond Syndrome 2	Normocytic anemia, Hepatomegaly, Steatorrhea, High palate, Neutropenia, Hyperechogenic pancreas, ...	OMIM:617941
Pontocerebellar Hypoplasia Type 1	Respiratory failure, Congenital laryngeal stridor	ORPHA:2254
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Hepatomegaly, Stage 5 chronic kidney disease, Methylmalonic aciduria, Tubulointerstitial nephriti...	OMIM:251000
Mckusick-Kaufman Syndrome	Urethral stricture, Multicystic kidney dysplasia, Aganglionic megacolon, Renal hypoplasia/aplasia...	ORPHA:2473
Mercury Poisoning	Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure, Acute kidney injury	ORPHA:330021
Congenital Muscular Dystrophy, Ullrich Type	Respiratory failure	ORPHA:75840
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hepatic steatosis	OMIM:615238
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Muckle-Wells Syndrome	Hepatomegaly, Splenomegaly, Nephrotic syndrome, Renal amyloidosis, Nephropathy	ORPHA:575
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hepatomegaly, Increased level of hippuric acid in urine, Glutaric aciduria, 3-Methylglutaric acid...	OMIM:246450
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne...	OMIM:300908
Infant Acute Respiratory Distress Syndrome	Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure	ORPHA:70587
Mosaic Trisomy 9	Renal dysplasia, Hypoplasia of penis, Intestinal malrotation, Asplenia, Cryptorchidism, Patent du...	ORPHA:99776
Alagille Syndrome 1	Duplicated collecting system, Elevated hepatic transaminase, Hepatocellular carcinoma, Multiple s...	OMIM:118450
Harrod Syndrome	Cryptorchidism, Multicystic kidney dysplasia, High palate, Hypospadias	ORPHA:2115
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Respiratory failure, Tachypnea, Death in childhood	OMIM:615838
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly	OMIM:238600
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermitte...	OMIM:150550
Endocrine-Cerebroosteodysplasia	Hypospadias, Cryptorchidism, Microphallus, Hyperechogenic kidneys, Enlarged kidney	OMIM:612651
Ring Chromosome 13 Syndrome	Hypoplasia of the gallbladder, Hypospadias, Abnormal renal physiology, Micropenis, Urogenital sin...	ORPHA:96176
Mucopolysaccharidosis, Type Iiia	Splenomegaly, Hepatomegaly, Heparan sulfate excretion in urine	OMIM:252900
Galactokinase Deficiency	Hepatomegaly, Increased level of galactitol in urine, Hepatosplenomegaly	ORPHA:79237
Chronic Granulomatous Disease	Hepatomegaly, Liver abscess, Abnormality of neutrophils, Malabsorption, Splenomegaly, Mediastinal...	ORPHA:379
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:603909
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Hepatomegaly, Proximal tubulopathy, Polyuria	OMIM:560000
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Neoplasm of the liver, Decreased liver function, Cirrh...	ORPHA:77293
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Mul...	ORPHA:220460
Aredyld Syndrome	Splenomegaly, Hepatomegaly, Abnormality of the ureter	ORPHA:1133
Sézary Syndrome	Splenomegaly, Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:3162
Chromosome 17Q12 Deletion Syndrome	Elevated hepatic transaminase, Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent...	OMIM:614527
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Restrictive ventilatory defect, Respiratory failure	OMIM:606612
Chanarin-Dorfman Syndrome	Hepatomegaly, Hepatic steatosis	OMIM:275630
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Leigh Syndrome	Eczema, Lacticaciduria, Methylmalonic aciduria, Generalized aminoaciduria, Growth delay, Renal tu...	ORPHA:506
Tibial Muscular Dystrophy	Respiratory failure	ORPHA:609
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Neutrophilia, Generalized lymphadenopathy, Splenomeg...	ORPHA:829
Idiopathic/Heritable Pulmonary Arterial Hypertension	Hepatomegaly	ORPHA:422
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Renal Fanconi syndrome, Pancreatic isle...	ORPHA:263455
Metachromatic Leukodystrophy, Adult Form	Urinary incontinence, Cholecystitis, Neoplasm of the gallbladder	ORPHA:309271
Immunodeficiency 96	Growth delay, Multicystic kidney dysplasia, Recurrent otitis media, Eczema	OMIM:619774
Peripartum Cardiomyopathy	Orthopnea, Crackles, Dyspnea, Myocarditis, Asthma, Respiratory failure, Paroxysmal dyspnea, Left ...	ORPHA:563
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Short stature, Cryptorchidism, Horseshoe kidney, Renal cyst, Intrauterine growth retardation	ORPHA:166035
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Distal Renal Tubular Acidosis	Hyperphosphaturia, Short stature, Hypocitraturia, Respiratory insufficiency due to muscle weaknes...	ORPHA:18
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Glomerulopathy, Splenomegaly, Polycystic ovaries, Hepatic steatosis, Pancreatitis	ORPHA:2348
Cardiac-Urogenital Syndrome	Accessory spleen, Unilateral cryptorchidism, Cryptorchidism, Hepatopulmonary fusion, Enlarged kid...	OMIM:618280
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
22Q11.2 Deletion Syndrome	Hypoparathyroidism, Hypospadias, Cryptorchidism, Splenomegaly, Renal hypoplasia, Multiple renal c...	ORPHA:567
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Duplicated collecting system, Hepatomegaly, Death in infancy, Bilateral fetal pyelectasis, Seborr...	OMIM:300868
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Increased urinary glycerol	OMIM:229700
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:614921
Fucosidosis	Hepatomegaly, Mucopolysacchariduria, Abnormality of the gallbladder, Cardiomegaly	ORPHA:349
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Renal dysplasia, Renal insufficiency, Psoriasiform dermatitis, Unilateral ren...	ORPHA:2237
Wild Type Attr Amyloidosis	Hepatomegaly, Renal insufficiency, Proteinuria, Nephrotic syndrome, Nephropathy	ORPHA:330001
Johanson-Blizzard Syndrome	Anteriorly placed anus, Hepatic fibrosis, Micropenis, Hepatomegaly, Hypospadias, Elevated circula...	OMIM:243800
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Cholestatic liver disease	ORPHA:5
Fraser Syndrome 2	Renal agenesis, Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Respiratory failu...	OMIM:617666
Maternal Uniparental Disomy Of Chromosome 2	Neonatal respiratory distress, Renal insufficiency, Miscarriage, Decreased response to growth hor...	ORPHA:96179
Cat Eye Syndrome	Anal stenosis, Renal agenesis, Intestinal malrotation, Rectal fistula, Rectal atresia, Biliary at...	OMIM:115470
Cystic Fibrosis	Hepatomegaly, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Asth...	OMIM:219700
Digeorge Syndrome	Renal insufficiency, Parathyroid agenesis, Unilateral renal agenesis, Splenomegaly, Parathyroid h...	OMIM:188400
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Micropenis	OMIM:617925
Pseudo-Torch Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Splenomegaly, Jaundice, High pa...	OMIM:251290
Hemorrhagic Fever-Renal Syndrome	Elevated hepatic transaminase, Respiratory distress, Anuria, Proteinuria, Glomerulonephritis, Pne...	ORPHA:340
Tetrasomy 9P	Renal dysplasia, Absent gallbladder, Recurrent urinary tract infections, Cryptorchidism, Jaundice...	ORPHA:3310
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Rectal fistula, Elev...	OMIM:616433
Prolidase Deficiency	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hyperimidodipeptidur...	OMIM:170100
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation	OMIM:603689
Scheie Syndrome	Splenomegaly, Hepatomegaly, Mucopolysacchariduria	ORPHA:93474
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidism, Abnormal renal morpholog...	ORPHA:1655
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Splenomegaly, Polycystic ovaries, Cirrhosis, Hepatic steatosis, Pancreatitis	ORPHA:79083
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan...	ORPHA:436271
Reynolds Syndrome	Hepatomegaly, Abnormal gastric mucosa morphology, Jaundice, Xerostomia, Cirrhosis, Ascites	ORPHA:779
Malignant Atrophic Papulosis	Peritonitis, Respiratory failure, Arteritis, Pleural effusion, Abnormality of the lower urinary t...	ORPHA:679
Joubert Syndrome 14	Cleft palate, Renal cyst	OMIM:614424
Pseudo-Torch Syndrome 2	Elevated hepatic transaminase, Hepatomegaly, Ascites, Abnormal renal corticomedullary differentia...	OMIM:617397
Sialuria	Hepatomegaly, Splenomegaly, Macroglossia, High palate, Hypoplastic nipples, Increased level of N-...	OMIM:269921
Familial Tumoral Calcinosis	Splenomegaly, Hepatomegaly, Nephrocalcinosis	ORPHA:53715
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidism, Cleft palate, Ascites, H...	OMIM:235255
Mitochondrial Complex I Deficiency, Nuclear Type 10	Respiratory failure, Apnea, Central hypoventilation	OMIM:618233
Nodular Non-Suppurative Panniculitis	Splenomegaly, Hepatomegaly	ORPHA:33577
Combined Oxidative Phosphorylation Defect Type 23	Stridor, Respiratory failure, Paroxysmal dyspnea, Left ventricular hypertrophy, Right ventricular...	ORPHA:444013
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Respiratory failure	OMIM:613954
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:2759
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma morphology, Hyperecho...	ORPHA:456312
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Igg4-Related Retroperitoneal Fibrosis	Renal insufficiency, Dysuria, Renovascular hypertension, Renal tubular epithelial necrosis, Unila...	ORPHA:49041
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Short stature, Decreased response to growth hormone stimulation test, Respiratory insufficiency, ...	OMIM:617260
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Rhizomelia, Cryptorchidism, Renal hypoplasia, Renal cyst, Respiratory insufficiency, Stillbirth	OMIM:616300
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ...	OMIM:619802
Tangier Disease	Left ventricular hypertrophy, Hepatomegaly, Splenomegaly	OMIM:205400
Oculoskeletodental Syndrome	Hepatomegaly, Renal agenesis, Splenomegaly, Cryptorchidism, Hypercalciuria, Macroglossia, Mucopol...	OMIM:618440
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Proteinuria, Polycystic ovaries, Cirrhosis, Hepatic steatosis	ORPHA:79086
Niemann-Pick Disease, Type C1	Hepatomegaly, Fatal liver failure in infancy, Bone-marrow foam cells, Fetal ascites, Splenomegaly...	OMIM:257220
Sarcoidosis, Susceptibility To, 2	Splenomegaly, Hepatomegaly, Mediastinal lymphadenopathy	OMIM:612387
Mosaic Variegated Aneuploidy Syndrome 1	Multicystic kidney dysplasia, Short stature, Hypospadias, Nephroblastoma, Postnatal growth retard...	OMIM:257300
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated hepatic transaminase, Hepatomegaly, Cryptorchidism, Elevated circulating alanine aminotr...	OMIM:615381
Alagille Syndrome	Hepatomegaly, Renal hypoplasia/aplasia, Cryptorchidism, Abnormality of the ureter, Cholestasis, N...	ORPHA:52
Fryns Syndrome	Ureteral duplication, Ectopic pancreatic tissue, Hypospadias, Aganglionic megacolon, Intestinal m...	OMIM:229850
Omenn Syndrome	Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal lymphocyte morp...	ORPHA:39041
Distal Deletion 12Q	Unilateral cryptorchidism, Ectopic kidney, High, narrow palate, Pituitary adenoma, Esophageal atr...	ORPHA:96149
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Thrombocytopenia, Jaundice, Splenomegaly, Lymphadeno...	ORPHA:540
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Jaundice	OMIM:613839
Zttk Syndrome	Absent gallbladder, Polyuria, Unilateral renal agenesis, Horseshoe kidney	OMIM:617140
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:230800
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Cryptorchidism, Megacystis, Mi...	ORPHA:2241
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Decreased hemoglobin concentration, Circulating nucleated red blood cells, Hemolyti...	OMIM:613673
Autoimmune Hemolytic Anemia, Warm Type	Splenomegaly, Jaundice, Autoimmune hemolytic anemia, Chronic lymphatic leukemia	ORPHA:90033
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Hepatomegaly, Orthopnea, Cardiomegaly, Respiratory insufficiency due to mus...	ORPHA:365
Rauch-Steindl Syndrome	Hepatomegaly, Hyperechogenic kidneys, Bilateral renal hypoplasia, Exocrine pancreatic insufficiency	OMIM:619695
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Renal agenesis, High palate, Hydronephrosis	ORPHA:1297
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Apnea, Cardiomegaly, Pleural effusion, Enlarged kidney	OMIM:261740
2Q37 Microdeletion Syndrome	Multicystic kidney dysplasia, Short stature, Eczema, Supernumerary nipple, Tracheomalacia, Nephro...	ORPHA:1001
American Trypanosomiasis	Splenomegaly, Hepatomegaly, Aganglionic megacolon, Lymphadenopathy	ORPHA:3386
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Nephroblastoma, Bifid ureter, Enlarged kidney	ORPHA:500095
Macrocephaly/Autism Syndrome	Hepatomegaly, Penile freckling, Splenomegaly, Hydrocele testis, High palate	OMIM:605309
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Microvesicular hepatic steatosis, Splenomegaly, Macronodular cirr...	OMIM:619418
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hydrocele testis, Hepatomegaly, Micropenis	OMIM:618810
Fanconi-Bickel Syndrome	Hepatomegaly, Hyperphosphaturia, Ketonuria, Proteinuria, Elevated circulating aspartate aminotran...	OMIM:227810
Klippel-Trénaunay Syndrome	Hematuria, Hepatomegaly, Ascites	ORPHA:90308
Spinocerebellar Ataxia Type 1	Respiratory failure	ORPHA:98755
Congenital Myopathy 10B, Mild Variant	Reduced forced vital capacity, Respiratory failure, Recurrent pneumonia	OMIM:620249
Familial Isolated Restrictive Cardiomyopathy	Hepatomegaly, Orthopnea, Postnatal growth retardation, Dyspnea, Pulmonary venous hypertension	ORPHA:75249
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Postnatal...	ORPHA:93110
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Splenomegaly, Cirrhosis, Hep...	ORPHA:465508
Cerebrocostomandibular Syndrome	Death in infancy, Neonatal respiratory distress, Multicystic kidney dysplasia, Short stature, Tra...	ORPHA:1393
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hyperechogenic kidneys, Intestinal malrotation, Polycystic kidney dysplasia	OMIM:617866
Majeed Syndrome	Hepatomegaly, Glomerulopathy, Proteinuria, Malabsorption, Splenomegaly, Microscopic hematuria	ORPHA:77297
Sandestig-Stefanova Syndrome	Intrauterine growth retardation, Respiratory failure	OMIM:618804
Combined Oxidative Phosphorylation Deficiency 33	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Nephrotic syndrome, Left ventricular h...	OMIM:617713
Lipe-Related Familial Partial Lipodystrophy	Hepatomegaly, Hepatic steatosis, Polycystic ovaries	ORPHA:435660
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Central apnea, Respiratory failure, Respiratory insufficiency due to muscle weakness	OMIM:618291
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis	ORPHA:369840
Fryns Syndrome	Multicystic kidney dysplasia, Hypospadias, Aganglionic megacolon, Intestinal malrotation, Cryptor...	ORPHA:2059
Severe Congenital Nemaline Myopathy	Respiratory failure, Hypospadias, Micropenis	ORPHA:171430
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Postnatal growth retardation, Intrauterine growth retardation, Respiratory failure, Hydronephrosis	ORPHA:254528
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Pure red cell aplasia, Autoimmune ...	ORPHA:436159
Pancreatoblastoma	Jaundice, Pancreatic calcification, Abnormal lymph node morphology	ORPHA:677
Joubert Syndrome 2	Renal insufficiency, High palate, Renal cyst, Nephronophthisis	OMIM:608091
Mucopolysaccharidosis, Type Iiic	Splenomegaly, Hepatomegaly, Heparan sulfate excretion in urine	OMIM:252930
Riddle Syndrome	Short stature, Pneumonia, Neonatal asphyxia, Recurrent pneumonia, Enuresis nocturna, Arthritis, R...	ORPHA:420741
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Esophageal atresia, Congenital hepat...	ORPHA:93271
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Hepatic steatosis	OMIM:212138
Helsmoortel-Van Der Aa Syndrome	Recurrent urinary tract infections, Short stature, Decreased response to growth hormone stimulati...	OMIM:615873
Hyperparathyroidism, Neonatal Severe	Hepatomegaly, Hyperphosphaturia, Polyuria, Splenomegaly, Primary hyperparathyroidism, Hypercalciu...	OMIM:239200
Mcleod Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Acanthocytosis, Sple...	OMIM:300842
Glycogen Storage Disease Ic	Hepatomegaly, Renal insufficiency, Proteinuria, Chronic pancreatitis, Hematuria, Focal segmental ...	OMIM:232240
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Thrombocytopenia	ORPHA:169090
Adams-Oliver Syndrome 5	Portal vein thrombosis, Splenomegaly, Hypersplenism, Esophageal varix, Right ventricular hypertrophy	OMIM:616028
Subaortic Stenosis-Short Stature Syndrome	Biliary tract abnormality	ORPHA:3191
Cerebrotendinous Xanthomatosis	Cholelithiasis, Prolonged neonatal jaundice	ORPHA:909
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Renal cyst	OMIM:615560
Wilson Disease	Acute hepatic failure, Aminoaciduria, Hepatic steatosis, Hypoparathyroidism, Hepatomegaly, Elevat...	OMIM:277900
Cornelia De Lange Syndrome 1	Hypospadias, Proteinuria, Ectopic kidney, Malrotation of colon, Cryptorchidism, High, narrow pala...	OMIM:122470
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Respiratory failure	OMIM:620166
Joubert Syndrome 8	Hepatomegaly, Prolonged neonatal jaundice	OMIM:612291
Oculocerebrofacial Syndrome, Kaufman Type	Growth delay, Dyspnea, Respiratory failure, Respiratory distress	ORPHA:2707
Developmental Delay With Or Without Dysmorphic Facies And Autism	Supernumerary nipple, Cryptorchidism, Patent ductus arteriosus, Renal hypoplasia, Renal cyst, Cle...	OMIM:618454
Trisomy 20P	Hypospadias, Abnormality of the kidney, Cryptorchidism, Abnormality of the ureter, Abnormal local...	ORPHA:261318
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Respiratory failure requiring assisted ventilation, Neurogenic bladder, Urinary incontinence, Rec...	ORPHA:496641
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypoparathyroidism, High, narrow palate, Patent ductus arteriosus, Hypercalciuria, Renal cyst, Ne...	ORPHA:369837
Amish Lethal Microcephaly	Hepatomegaly, Organic aciduria, Cleft soft palate	ORPHA:99742
Thoracic Dysplasia-Hydrocephalus Syndrome	Respiratory failure, Short stature	ORPHA:1861
Simpson-Golabi-Behmel Syndrome, Type 1	Hepatomegaly, Neonatal respiratory distress, Hypospadias, Supernumerary nipple, Splenomegaly, Cry...	OMIM:312870
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Proximal Spinal Muscular Atrophy	Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,...	ORPHA:70
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Renal cyst, Horseshoe kidney	OMIM:250410
Williams Syndrome	Recurrent urinary tract infections, Hypoplasia of penis, Renal insufficiency, Proteinuria, Crypto...	ORPHA:904
Common Variable Immunodeficiency	Elevated hepatic transaminase, Hemolytic anemia, Autoimmune thrombocytopenia, Gastrointestinal st...	ORPHA:1572
Citrullinemia, Classic	Hepatomegaly, Oroticaciduria, Cirrhosis	OMIM:215700
Bloom Syndrome	Recurrent urinary tract infections, Skin rash, Pneumonia, Chronic pulmonary obstruction, Cheiliti...	ORPHA:125
Marden-Walker Syndrome	Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia...	ORPHA:2461
Dyrk1A-Related Intellectual Disability Syndrome	Hypospadias, Anterior pituitary hypoplasia, Unilateral renal agenesis, Cryptorchidism, Pyloric st...	ORPHA:464306
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Respiratory failure	OMIM:616505
Congenital Disorder Of Glycosylation, Type If	Death in infancy, Renal cortical cysts, Erythroderma	OMIM:609180
Somatostatinoma	Neoplasm of the pancreas, Hepatomegaly, Intestinal obstruction, Elevated circulating growth hormo...	ORPHA:97283
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233710
Immunodeficiency 60 And Autoimmunity	Pancytopenia, Splenomegaly, Ulcerative colitis, Colitis, Decreased basophil count, Decreased prop...	OMIM:618394
Genitopatellar Syndrome	Multicystic kidney dysplasia, Short stature, Apnea, Cryptorchidism, Hydronephrosis	ORPHA:85201
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Left ventricular hypertrophy, Hepatomegaly, Ketonuria, Lacticaciduria	OMIM:619167
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Hypospadias, Unilateral renal agenesis, Cryptorchidism, Patent ductus arteriosus, Renal cyst, Pos...	ORPHA:464311
Al Amyloidosis	Hepatomegaly, Renal insufficiency, Proteinuria, Abnormality of the kidney, Renal interstitial amy...	ORPHA:85443
Muscular Dystrophy, Duchenne Type	Respiratory insufficiency due to muscle weakness, Hypoventilation, Respiratory failure, Restricti...	OMIM:310200
Hurler-Scheie Syndrome	Splenomegaly, Hepatomegaly, Heparan sulfate excretion in urine, Dermatan sulfate excretion in urine	OMIM:607015
Proximal 16P11.2 Microdeletion Syndrome	Pyloric stenosis, Multicystic kidney dysplasia, Cleft palate	ORPHA:261197
Tetraamelia-Multiple Malformations Syndrome	Cryptorchidism, Multicystic kidney dysplasia, Anal atresia	ORPHA:3301
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Hypospadias, Cryptorchidism, Patent ductus arteriosus, Renal cyst, Furrowed tongue, High palate, ...	OMIM:616975
Smith-Lemli-Opitz Syndrome	Renal cyst, Micropenis, Hepatic steatosis, Penoscrotal hypospadias, Hepatomegaly, Death in infanc...	OMIM:270400
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Bradypnea, Respiratory failure, Death in childhood	OMIM:617186
Combined Oxidative Phosphorylation Deficiency 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614924
Penile Agenesis	Urethral atresia, male, Hydroureter, Rectal fistula, Cryptorchidism, Fetal pyelectasis, Bilateral...	ORPHA:49
Amyotrophic Lateral Sclerosis	Dyspnea, Respiratory failure, Abnormal respiratory system physiology	ORPHA:803
Shwachman-Diamond Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Nephrocalcinosis, Steatorrhea, Exocrine pancreatic i...	OMIM:260400
C Syndrome	Hepatomegaly, Cryptorchidism, Patent ductus arteriosus, Renal cortical cysts, High palate	OMIM:211750
Peroxisome Biogenesis Disorder 4B	Hepatomegaly, Decreased liver function, Ureterocele	OMIM:614863
Autoinflammation With Arthritis And Dyskeratosis	Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Hypereosinophilia	OMIM:617388
Glutaric Acidemia I	Hepatomegaly, Glutaric aciduria, Ketonuria	OMIM:231670
Histiocytoid Cardiomyopathy	Hepatomegaly, Cardiomegaly, Renal cyst, Cleft palate, Polycystic ovaries	ORPHA:137675
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90037
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233690
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Intestinal obstruction, Malabsorption, Abnormal intestine morphology, Intestinal ly...	OMIM:226300
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Patent ductus arteriosus after premature birth, Renal hypoplasia, Renal cys...	OMIM:618460
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Oliguria, Hepatic failure	ORPHA:159
Ear-Patella-Short Stature Syndrome	Respiratory distress, Hypoplasia of penis, Severe short stature, Hypospadias, Cryptorchidism, Dys...	ORPHA:2554
Sandhoff Disease	Hepatomegaly, Urinary incontinence, Cardiomegaly, Hepatosplenomegaly, Macroglossia	OMIM:268800
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Thrombocytopenia, Splenomegaly, Lymphadenopathy, Lym...	OMIM:617591
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Growth delay, Respiratory failure, Atopic dermatitis	ORPHA:3240
Hemophagocytic Lymphohistiocytosis, Familial, 2	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Thrombocytopenia, Jaundice, Splenomega...	OMIM:603553
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Respiratory failure	OMIM:617895
Reynolds Syndrome	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestas...	OMIM:613471
Dysbetalipoproteinemia	Hepatomegaly, Acute pancreatitis, Hepatic steatosis, Renal steatosis	ORPHA:412
Phelan-Mcdermid Syndrome	Abnormality of the kidney, Patent ductus arteriosus, High palate, Polycystic kidney dysplasia, Ve...	OMIM:606232
Fibrodysplasia Ossificans Progressiva	Respiratory failure, Respiratory insufficiency	OMIM:135100
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Aspiration, Reduced renal corticomedullary differentiation, Multiple renal ...	OMIM:618733
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia	OMIM:618398
Ventriculomegaly With Cystic Kidney Disease	Tubular luminal dilatation, Renal insufficiency, Renal corticomedullary cysts, Hyperechogenic kid...	OMIM:219730
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Thrombocytopenia, Cr...	OMIM:617052
Mpdu1-Cdg	Decreased response to growth hormone stimulation test, Renal cortical cysts	ORPHA:79323
Familial Adenomatous Polyposis	Cholangiocarcinoma, Pancreatic adenocarcinoma, Goiter, Pituitary adenoma, Neoplasm of the gallbla...	ORPHA:733
Tuberous Sclerosis 1	Renal angiomyolipoma, Renal cell carcinoma, Adenoma sebaceum, Renal cyst	OMIM:191100
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	ORPHA:309854
Cerebrocostomandibular Syndrome	Anal stenosis, Cleft soft palate, Ectopic kidney, Patent ductus arteriosus, Horseshoe kidney, Ren...	OMIM:117650
Hereditary Fructose Intolerance	Hepatomegaly, Renal insufficiency, Jaundice, Chronic kidney disease, Chronic hepatic failure	ORPHA:469
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Jaundice, Hepatosplenomegaly, U...	ORPHA:79124
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress, Death in infancy, Respiratory failure, Chylothorax, Death in childhood	OMIM:620278
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy...	ORPHA:86843
2P15P16.1 Microdeletion Syndrome	Multicystic kidney dysplasia, Supernumerary nipple, Hydronephrosis, High palate, Decreased testic...	ORPHA:261349
Mckusick-Kaufman Syndrome	Hydroureter, Aganglionic megacolon, Cryptorchidism, Rectovaginal fistula, Polycystic kidney dyspl...	OMIM:236700
Simpson-Golabi-Behmel Syndrome	Hepatomegaly, Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadia...	ORPHA:373
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Hepatomegaly, Renal insufficiency, High palate, Reduced pancreatic beta cells	OMIM:226980
Fructose Intolerance, Hereditary	Elevated hepatic transaminase, Hepatomegaly, Transient aminoaciduria, Hyperphosphaturia, Jaundice...	OMIM:229600
Ulbright-Hodes Syndrome	Respiratory distress, Abnormal penis morphology, Postnatal growth retardation, Cryptorchidism, Pn...	ORPHA:3404
Vipoma	Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Malabs...	ORPHA:97282
Structural Heart Defects And Renal Anomalies Syndrome	Death in infancy, Renal insufficiency, Renal cyst	OMIM:617478
Gaucher Disease, Type Iiic	Splenomegaly, Hepatomegaly, Pancytopenia, Cardiomegaly	OMIM:231005
Steinert Myotonic Dystrophy	Elevated hepatic transaminase, Decreased response to growth hormone stimulation test, Ovarian car...	ORPHA:273
Focal Dermal Hypoplasia	Acute hepatic failure, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Patent ductus arte...	ORPHA:2092
Cirrhotic Cardiomyopathy	Hepatomegaly, Cardiomegaly, Jaundice, Cirrhosis, Left ventricular hypertrophy, Ascites	ORPHA:57777
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Peptic ulcer...	ORPHA:98849
Thauvin-Robinet-Faivre Syndrome	Renal malrotation, Renal cyst, Macroglossia, Nephroblastoma, Bifid ureter, Renal dysplasia	OMIM:617107
Pagod Syndrome	Death in infancy, Multicystic kidney dysplasia, Short stature, Renal hypoplasia/aplasia, Abnormal...	ORPHA:991
16P12.1P12.3 Triplication Syndrome	Abnormal intrahepatic bile duct morphology, Bilateral cryptorchidism, Decreased response to growt...	ORPHA:485405
Tuberous Sclerosis 2	Absence of renal corticomedullary differentiation, Renal cyst, Renal cell carcinoma, Adenoma seba...	OMIM:613254
Epidermal Nevus Syndrome	Polycystic kidney dysplasia	ORPHA:35125
Immunodeficiency 36 With Lymphoproliferation	Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion of transitional ...	OMIM:616005
Joubert Syndrome 39	Hypopnea, Polycystic kidney dysplasia	OMIM:619562
Methylmalonic Aciduria, Cblb Type	Hepatomegaly, Ketonuria, Methylmalonic aciduria	OMIM:251110
Ethylene Glycol Poisoning	Renal insufficiency, Gastritis, Renal tubular epithelial necrosis, Renal tubular dysfunction, Hem...	ORPHA:31826
Alström Syndrome	Respiratory distress, Decreased response to growth hormone stimulation test, Urinary incontinence...	ORPHA:64
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Death in infancy, Cryptorchidism, Disproportionate short stature, Renal hypoplasia, Renal cyst, R...	OMIM:210710
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Elevated hepatic transaminase, Renal insufficiency, Short stature, Apnea, Supernumerary nipple, H...	ORPHA:397715
Hajdu-Cheney Syndrome	Hypospadias, Intestinal malrotation, Cryptorchidism, Patent ductus arteriosus, Renal cyst, High p...	OMIM:102500
1P36 Deletion Syndrome	Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Cryptorchidism, Pyloric stenosis, Ab...	ORPHA:1606
Lymphangioleiomyomatosis	Abnormal urinary color, Renal neoplasm, Dyspnea, Renal angiomyolipoma, Pneumothorax, Hematuria, R...	ORPHA:538
Polycythemia Vera	Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Acute leukemia	ORPHA:729
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Thrombocytopeni...	OMIM:214500
Pelizaeus-Merzbacher Disease, Connatal Form	Respiratory failure, Short stature	ORPHA:280210
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Splenomegaly, Nephrolithiasis, P...	OMIM:608594
Mitochondrial Complex I Deficiency, Nuclear Type 32	Respiratory failure, Patent urachus, Death in childhood	OMIM:618252
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hepatomegaly, Hemolytic anemia, Splenomegaly, Jaundice, Stomatocytosis	OMIM:608885
Schinzel-Giedion Syndrome	Streak ovary, Hypospadias, Aganglionic megacolon, Nephroblastoma, Abnormality of the ureter, Neph...	ORPHA:798
Glucagonoma	Neoplasm of the pancreas, Hepatomegaly, Intestinal obstruction, Elevated circulating growth hormo...	ORPHA:97280
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Myositis, Respiratory insufficiency, Pulmonary arterial hypertension, Respirator...	ORPHA:258
15q26 overgrowth syndrome	Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, High pa...	DECIPHER:81
Transcobalamin Ii Deficiency	Hepatomegaly, Methylmalonic aciduria	OMIM:275350
Biotinidase Deficiency	Splenomegaly, Hepatomegaly, Organic aciduria	OMIM:253260
Niemann-Pick Disease Type C	Hepatomegaly, Splenomegaly, Jaundice, Respiratory insufficiency, Hepatosplenomegaly, Abnormality ...	ORPHA:646
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Splenomegaly, Hepatomegaly, Neutrophilia	OMIM:612852
Methylmalonic Aciduria, Cbla Type	Hepatomegaly, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Methylmalonic aciduria, El...	OMIM:251100
Familial Mediterranean Fever	Hepatomegaly, Orchitis, Splenomegaly, Peritonitis, Stage 5 chronic kidney disease, Nephrotic synd...	OMIM:249100
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Thrombocytopenia, Splenomegaly, Abnorm...	ORPHA:158048
Neurofibroma	Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Intestinal bleeding, Abnorma...	ORPHA:252183
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Bilateral renal dysplasia, Absent gallbladder, Unilateral renal agenesis, Horseshoe kidney	ORPHA:500150
Jacobsen Syndrome	Death in infancy, Multicystic kidney dysplasia, Short stature, Eczema, Cryptorchidism, Growth del...	ORPHA:2308
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Decreased response to growth hormone stimulation test, Cardiomegaly, Retroperitonea...	OMIM:602782
Lethal Acantholytic Erosive Disorder	Intrauterine growth retardation, Respiratory failure, Cardiomegaly	ORPHA:158687
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Hepatomegaly, Micronodular cirrhosis, Hepatic steatosis	ORPHA:98907
Peters-Plus Syndrome	Ureteral duplication, Hypospadias, Bilobate gallbladder, Cryptorchidism, Biliary tract abnormalit...	OMIM:261540
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hepatomegaly, Short stature, Miscarriage, Postnatal growth retardation, Cryptorchidism, Hepatospl...	ORPHA:96334
Poliomyelitis	Respiratory failure requiring assisted ventilation, Respiratory failure, Infectious encephalitis,...	ORPHA:2912
Q Fever	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatitis, Hepatosplenomegaly, Hematur...	ORPHA:781
Infantile Krabbe Disease	Respiratory distress, Respiratory failure	ORPHA:206436
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Periodontitis, Chronic ...	ORPHA:534
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Splenomegaly, Nephrolithiasis, P...	OMIM:269700
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Malabsorption, High palate, Prolonged neonatal jaundice	OMIM:233600
Joubert Syndrome 5	Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Cleft...	OMIM:610188
Acrorenal-Mandibular Syndrome	Absent nipple, Renal agenesis, Abnormality of the ureter, Narrow palate, Aplasia of the bladder, ...	OMIM:200980
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:306400
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia, Abnormal number of alpha granules	OMIM:139090
Arterial Tortuosity Syndrome	Respiratory distress, Myocarditis, Dyspnea, Cardiorespiratory arrest, Respiratory failure, Esopha...	ORPHA:3342
Bohring-Opitz Syndrome	Bilateral cleft palate, Intestinal malrotation, Supernumerary nipple, Narrow palate, Hyperechogen...	OMIM:605039
Glycine Encephalopathy With Normal Serum Glycine	Respiratory failure, Apnea	OMIM:617301
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Aganglionic megacolon, Renal hypo...	ORPHA:818
Feingold Syndrome 1	Accessory spleen, Jejunal atresia, Asplenia, Esophageal atresia, Tracheoesophageal fistula, High ...	OMIM:164280
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Cleft palate, Micropenis, Hamartoma of tongue, Polycystic kidney dysplasia	OMIM:616546
Osteopathia Striata With Cranial Sclerosis	Anal stenosis, Multicystic kidney dysplasia, Intestinal malrotation, Patent ductus arteriosus, Cl...	OMIM:300373
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Severe short stature, Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tr...	ORPHA:2636
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an...	OMIM:614162
Hajdu-Cheney Syndrome	Hepatomegaly, Hypospadias, Intestinal malrotation, Splenomegaly, Patent ductus arteriosus, Cleft ...	ORPHA:955
Floating-Harbor Syndrome	Hypospadias, Renal agenesis, Celiac disease, Cryptorchidism, Dilatation of the renal pelvis, Stag...	ORPHA:2044
Cutis Marmorata Telangiectatica Congenita	Patent ductus arteriosus, Displacement of the urethral meatus, Multicystic kidney dysplasia	ORPHA:1556
Mosaic Variegated Aneuploidy Syndrome	Intestinal polyposis, Multicystic kidney dysplasia, Cleft palate, Colon cancer, Stomach cancer, N...	ORPHA:1052
Lysinuric Protein Intolerance	Hepatomegaly, Splenomegaly, Stage 5 chronic kidney disease, Aminoaciduria, Hyperlysinuria, Orotic...	OMIM:222700
Spondyloepimetaphyseal Dysplasia, Krakow Type	Annular pancreas, High palate	OMIM:618162
Lipodystrophy, Familial Partial, Type 2	Hepatomegaly, Acute pancreatitis, Hepatic steatosis, Polycystic ovaries	OMIM:151660
Ectodermal Dysplasia And Immunodeficiency 2	Splenomegaly, Hepatomegaly, Aplasia of the sweat glands	OMIM:612132
Spondylocarpotarsal Synostosis Syndrome	Cleft palate, Renal cyst	OMIM:272460
Primary Triglyceride Deposit Cardiomyovasculopathy	Splenomegaly, Hepatomegaly, Renal artery atherosclerosis, Pancreatitis	ORPHA:565612
Cystinosis, Nephropathic	Hepatomegaly, Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Splenomegaly, Stage ...	OMIM:219800
Distal Deletion 15Q	Multicystic kidney dysplasia, Short stature, Hypospadias, Postnatal growth retardation, Cryptorch...	ORPHA:1596
Otopalatodigital Syndrome, Type Ii	Short stature, Hypospadias, Postnatal growth retardation, Cryptorchidism, Respiratory insufficien...	OMIM:304120
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Elevated hepatic transaminase, Hepatomegaly, Ketonuria, Increased urinary glycerol, Jaundice, Cho...	ORPHA:247598
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Death in infancy, Multicystic kidney dysplasia, Short stature, Eczema, Recurrent skin infections,...	OMIM:308205
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Abnormal penis morphology, Severe short stature, Hypospadias, Dyspnea, Epis...	ORPHA:2556
Fanconi Anemia, Complementation Group D2	Pancytopenia, Cryptorchidism, Esophageal atresia, Reticulocytopenia, Tracheoesophageal fistula, A...	OMIM:227646
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Anteriorly placed anus, Cryptorchidism, Hypospadias, Renal cyst	ORPHA:495875
Autosomal Recessive Robinow Syndrome	Death in infancy, Multicystic kidney dysplasia, Hypoplasia of penis, Cryptorchidism, Disproportio...	ORPHA:1507
Pmm2-Cdg	Elevated hepatic transaminase, Proteinuria, Elevated circulating growth hormone concentration, Ab...	ORPHA:79318
Neutral Lipid Storage Myopathy	Elevated hepatic transaminase, Hepatomegaly, Chronic pancreatitis, Pineal cyst, Cholecystitis, He...	ORPHA:98908
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Thrombocytopenia	OMIM:153670
Lmna-Related Cardiocutaneous Progeria Syndrome	Papillary renal cell carcinoma, Abnormal intrahepatic bile duct morphology	ORPHA:363618
Nijmegen Breakage Syndrome	Pollakisuria, Respiratory failure, Recurrent pneumonia, Short stature	ORPHA:647
Congenital Fiber-Type Disproportion Myopathy	Hypercapnia, Respiratory insufficiency due to muscle weakness, Hypoxemia, Respiratory failure, As...	ORPHA:2020
Familial Mediterranean Fever	Acute hepatic failure, Intestinal obstruction, Malabsorption, Orchitis, Splenomegaly, Peritonitis...	ORPHA:342
Myhre Syndrome	Short stature, Cryptorchidism, Respiratory insufficiency, Birth length less than 3rd percentile, ...	OMIM:139210
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Respiratory failure	OMIM:616538
Bickerstaff Brainstem Encephalitis	Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Dyspnea, Respiratory ...	ORPHA:79138
Neuroendocrine Neoplasm Of Appendix	Elevated hepatic transaminase, Hepatomegaly, Mechanical ileus, Midgut malrotation, Ovarian neopla...	ORPHA:100079
Roberts Syndrome	Cryptorchidism, Long penis, Cleft palate, High palate, Polycystic kidney dysplasia	ORPHA:3103
C Syndrome	Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Horseshoe kidney, Cleft p...	ORPHA:1308
Townes-Brocks Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Urethral valve, Rectoperineal fistula, Ect...	ORPHA:857
Tubulointerstitial Nephritis And Uveitis Syndrome	Renal neutrophilic tubulitis, Sterile pyuria, Renal tubular epithelial necrosis, Beta 2-microglob...	ORPHA:91500
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Hypospadias, Postnatal growth retardation, Cryptorchidism, Long penis, Biliary ...	OMIM:268300
Robinow Syndrome	Multicystic kidney dysplasia, Cryptorchidism, Webbed penis, Micropenis, Bifid tongue, Ankylogloss...	ORPHA:97360
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Annular pancreas, Ankyloglossia, Cleft palate	ORPHA:488642
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Vesicoureteral reflux, Renal cortical cysts	OMIM:618548
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Abnormal penis morphology, Elevated hepatic transaminase, Dysuria, Intestinal perforation, Xerost...	ORPHA:95455
Costello Syndrome	Renal insufficiency, Short stature, Pneumothorax, Respiratory insufficiency, Respiratory failure,...	OMIM:218040
Jacobsen Syndrome	Cryptorchidism, Annular pancreas, Pyloric stenosis, Thrombocytopenia	OMIM:147791
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Decreased testicular size, Micropenis, Multicystic kidney dysplasia, Hydronephrosis	OMIM:615287
Femoral-Facial Syndrome	Renal agenesis, Abnormal renal collecting system morphology, Cryptorchidism, Cleft palate, Polycy...	OMIM:134780
Townes-Brocks Syndrome 1	Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Urethral valve, Anal stenosis, Re...	OMIM:107480
Fraser Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Anal stenosis, Cryptorchidism, Re...	ORPHA:2052
Rothmund-Thomson Syndrome, Type 2	Anteriorly placed anus, Cryptorchidism, Annular pancreas, High palate	OMIM:268400
Peters Plus Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Intestinal fistula, Hypospadias, Renal hypopl...	ORPHA:709
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Intestinal malrotation, Asplenia, Esophageal atresia, Pulmonary lymphangiectasia, Tracheoesophage...	OMIM:265380
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Splenomegaly, Hepatomegaly, Aplasia of the epiglottis, Horseshoe kidney	OMIM:617088
Wolf-Hirschhorn Syndrome	Hypospadias, Abnormality of the kidney, Cryptorchidism, Abnormality of the gallbladder, Abnormali...	ORPHA:280
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Right ventricular hypertrophy, Abnormality of the hepatic vasculature, Cardiomegaly	ORPHA:1677
Fanconi Anemia, Complementation Group E	Prolonged G2 phase of cell cycle, Horseshoe kidney, Ectopic kidney	OMIM:600901
Cornelia De Lange Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal insufficiency, Intestinal m...	ORPHA:199
Proteus Syndrome	Thymus hyperplasia, Testicular neoplasm, Enlarged polycystic ovaries, Splenomegaly, Long penis, R...	ORPHA:744
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Glycosuria,...	ORPHA:411629
Fanconi Anemia, Complementation Group A	Prolonged G2 phase of cell cycle, Horseshoe kidney, Ectopic kidney	OMIM:227650
Genitopatellar Syndrome	Multicystic kidney dysplasia, Anal stenosis, Cryptorchidism, Malrotation of small bowel, Anterior...	OMIM:606170
Branchiooculofacial Syndrome	Hypospadias, Renal agenesis, Supernumerary nipple, Malrotation of colon, Cryptorchidism, Pyloric ...	OMIM:113620
Fanconi Anemia, Complementation Group C	Prolonged G2 phase of cell cycle, Horseshoe kidney, Ectopic kidney	OMIM:227645
Mowat-Wilson Syndrome	Urinary incontinence, Asplenia, Cleft hard palate, Vesicoureteral reflux, Webbed penis, Micropeni...	ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Aganglionic megacolon, Asplenia,...	ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Urinary incontinence, Asplenia, Cleft hard palate, Vesicoureteral reflux, Webbed penis, Micropeni...	ORPHA:261552
Pallister-Killian Syndrome	Renal dysplasia, Anal stenosis, Hypospadias, Intestinal malrotation, Supernumerary nipple, Crypto...	OMIM:601803
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Renal agenesis, Ectopic kidney, Patent ductus arteriosus, Cleft pal...	OMIM:164210

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Pkhd1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Pkhd1.

There are 3 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Pkhd1^tm1Cjwa	PMC7263671
PKHD1L1 is a coat protein of hair-cell stereocilia and is required for normal hearing.	Nature communications (August 2019)	Pkhd1l1^{tm2e(EUCOMM)Hmgu}	PMC6707252
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Pkhd1^Del2	PMC5827107

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Pkhd1^em3(IMPC)H	Exon Deletion	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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