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Gene: Fah MGI:95482

Gene Summary

Name:

fumarylacetoacetate hydrolase

Synonyms:

swst

Order Alleles

IMPC Data Collections

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.

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal placenta vasculature	Fah^em1(IMPC)Mbp	HET	E15.5	0.00
abnormal placenta morphology	Fah^em1(IMPC)Mbp	HOM	E15.5	0.00
embryonic growth retardation	Fah^em1(IMPC)Mbp	HET	E15.5	0.00
edema	Fah^em1(IMPC)Mbp	HOM	E15.5	0.00
enlarged testis	Fah^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal spleen morphology	Fah^em1(IMPC)Mbp	HET	Early adult	0.00
small kidney	Fah^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal kidney morphology	Fah^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal placenta vasculature	Fah^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal retina vasculature morphology	Fah^em1(IMPC)Mbp	HET	Early adult	2.27×10^-05
enlarged heart	Fah^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal retina blood vessel morphology	Fah^em1(IMPC)Mbp	HET	Early adult	7.21×10^-05
abnormal testis morphology	Fah^em1(IMPC)Mbp	HET	Early adult	0.00
enlarged kidney	Fah^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal heart morphology	Fah^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal liver morphology	Fah^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal skin morphology	Fah^em1(IMPC)Mbp	HET	Early adult	0.00
persistence of hyaloid vascular system	Fah^em1(IMPC)Mbp	HET	Early adult	2.15×10^-05
enlarged spleen	Fah^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal placenta morphology	Fah^em1(IMPC)Mbp	HET	E15.5	0.00
preweaning lethality, complete penetrance	Fah^em1(IMPC)Mbp	HOM	Early adult	0.00
small liver	Fah^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal blood vessel morphology	Fah^em1(IMPC)Mbp	HOM	E15.5	0.00

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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.

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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Gross Morphology Embryo E14.5-E15.5

Images

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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Human diseases caused by Fah 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 Fah (2 diseases)
Human diseases predicted to be associated with Fah (1721 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Tyrosinemia, Type I		Hypertyrosinemia, Acute hepatic failure, Renal insufficiency, Hepatomegaly, Elevated hepatic tran...	OMIM:276700
Tyrosinemia Type 1		Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc...	ORPHA:882

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

Disease	Matching phenotypes	Source
Citrullinemia, Type Ii, Neonatal-Onset	Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st...	OMIM:605814
Pentosuria	Abnormality of urine homeostasis	OMIM:260800
Uridine-Cytidineuria	Elevated urinary uridine level, Elevated urinary cytidine	OMIM:618477
Hypervalinemia And Hyperleucine-Isoleucinemia	Hypervalinemia, Hyperisoleucinemia, Elevated circulating alanine aminotransferase concentration, ...	OMIM:618850
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Tyrosinemia, Type Iii	Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, Elevated hepat...	OMIM:276710
Gilbert Syndrome	Elevated hepatic transaminase, Jaundice, Hepatic failure	OMIM:143500
Ceroid storage disease	Hepatic failure	OMIM:214200
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve...	ORPHA:247598
Glycine N-Methyltransferase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypermethioninemia	OMIM:606664
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:619868
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Conjuga...	OMIM:620010
Galactosemia Ii	Galactosuria, Hypergalactosemia, Prolonged neonatal jaundice	OMIM:230200
Sedoheptulokinase Deficiency	Increased urinary sedoheptulose	OMIM:617213
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Elevated hepatic transaminase, Death in infancy, 4-hydroxyphenylacetic aciduria...	OMIM:617156
Rotor Syndrome	Abnormal circulating enzyme concentration or activity, Bilirubinuria, Conjugated hyperbilirubinem...	ORPHA:3111
Gracile Syndrome	Increased serum pyruvate, Increased circulating ferritin concentration, Cholestasis, Aminoaciduri...	OMIM:603358
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Decreased beta-galactosidase activity, Aminoaciduria, Galac...	OMIM:230350
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619662
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen...	ORPHA:263458
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality	OMIM:237500
Hepatorenocardiac Degenerative Fibrosis	Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosp...	OMIM:619902
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha...	OMIM:613095
Cholestasis, Progressive Familial Intrahepatic, 11	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619874
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Alaninuria, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated c...	OMIM:615158
Combined Oxidative Phosphorylation Deficiency 52	Death in infancy, Renal insufficiency, Elevated circulating creatine kinase concentration, Hypera...	OMIM:619386
Tyrosinemia, Type I	Hypertyrosinemia, Acute hepatic failure, Renal insufficiency, Hepatomegaly, Elevated hepatic tran...	OMIM:276700
Galactose Epimerase Deficiency	Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Aminoaciduria	ORPHA:79238
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease	Elevated hepatic transaminase, Chronic kidney disease, Abnormal tubulointerstitial morphology, Ch...	OMIM:602114
Edinburgh Malformation Syndrome	Jaundice, Failure to thrive, Neonatal hyperbilirubinemia	OMIM:129850
Hepatic Veno-Occlusive Disease	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Jaundice, Increased body weight...	ORPHA:890
Galactosemia Iv	Hypergalactosemia, Prolonged neonatal jaundice	OMIM:618881
Jaundice, Familial Obstructive, Of Infancy	Jaundice, Neonatal hyperbilirubinemia	OMIM:308600
Crigler-Najjar Syndrome, Type Ii	Jaundice, Unconjugated hyperbilirubinemia	OMIM:606785
Hyperbilirubinemia, Conjugated, Type Iii	Conjugated hyperbilirubinemia, Jaundice	OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal	Jaundice, Neonatal unconjugated hyperbilirubinemia	OMIM:237900
Combined Oxidative Phosphorylation Deficiency 46	Decreased liver function	OMIM:618952
Muscle Cramps, Familial	Elevated circulating creatine kinase concentration	OMIM:158400
Cramps, Familial Adolescent	Elevated circulating creatine kinase concentration	OMIM:218050
Crigler-Najjar Syndrome Type 2	Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice	ORPHA:79235
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc...	ORPHA:882
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level	ORPHA:2843
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration...	OMIM:251880
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hepatic failure, Hepatic steatosis	OMIM:261650
Bile Acid Conjugation Defect 1	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c...	OMIM:619232
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli...	OMIM:214900
Cholestasis, Progressive Familial Intrahepatic, 5	Death in infancy, Elevated circulating aspartate aminotransferase concentration, Elevated circula...	OMIM:617049
Hyperbilirubinemia, Rotor Type	Conjugated hyperbilirubinemia, Jaundice	OMIM:237450
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Elevated urinary delta-aminolevulinic acid	OMIM:206400
Dent Disease 2	Elevated circulating creatine kinase concentration, Elevated circulating aspartate aminotransfera...	OMIM:300555
Cholestasis, Progressive Familial Intrahepatic, 4	Portal hypertension, Intrahepatic cholestasis, Cirrhosis, Hepatocellular carcinoma, Hepatic failure	OMIM:615878
Iminoglycinuria	Hydroxyprolinemia, Hyperglycinuria, Hyperprolinemia, Hyperglycinemia, Prolinuria, Hydroxyprolinuria	ORPHA:42062
Hydroxykynureninuria	Aminoaciduria, Jaundice	OMIM:236800
Alpha-1-Antitrypsin Deficiency	Hepatomegaly, Jaundice, Hepatic failure, Hepatitis	ORPHA:60
Galactosemia I	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:230400
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T...	ORPHA:79299
Hepatitis, Fulminant Viral, Susceptibility To	Elevated hepatic transaminase, Hepatomegaly, Poor appetite, Jaundice, Fulminant hepatitis, Hepati...	OMIM:618549
Crigler-Najjar Syndrome, Type I	Jaundice, Unconjugated hyperbilirubinemia	OMIM:218800
Cholestasis, Intrahepatic, Of Pregnancy, 1	Elevated hepatic transaminase, Intrahepatic cholestasis, Jaundice, Abnormal liver function tests ...	OMIM:147480
Pediatric Hepatocellular Carcinoma	Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal vein thrombosis, Hepat...	ORPHA:33402
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Hepatocellular carcinoma, Portal inflammation, Elevated circulating alanine...	OMIM:603471
Hypercholanemia, Familial, 2	Increased serum bile acid concentration, Unconjugated hyperbilirubinemia, Prolonged neonatal jaun...	OMIM:619256
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ...	OMIM:161900
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Crigler-Najjar Syndrome Type 1	Biliary tract abnormality, Abnormality of the liver, Unconjugated hyperbilirubinemia, Prolonged n...	ORPHA:79234
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Death in infancy, Proteinuria,...	OMIM:613404
Lipoyltransferase 1 Deficiency	Elevated hepatic transaminase, Death in infancy, Hyperglutaminemia, Lacticaciduria, Hyperprolinem...	OMIM:616299
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Saccharopinuria	Citrullinuria, Elevated circulating sacchoropine concentration, Histidinuria, Saccharopinuria, Hy...	OMIM:268700
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ...	OMIM:616278
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Elevated circulating C-reactive protein concentration, Squamous cell carcinoma, Prostate cancer, ...	ORPHA:158057
Hawkinsinuria	Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, Hawkinsinuria,...	OMIM:140350
Hyperinsulinemic Hypoglycemia, Familial, 7	Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:610021
Hyperprolinemia, Type Ii	Hydroxyprolinuria, Hyperprolinemia, Hyperglycinuria, Prolinuria	OMIM:239510
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Elevated circulating alkaline phosphatase concentration, Polycystic liver disease, Renal cyst, In...	OMIM:174050
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Isolated Polycystic Liver Disease	Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas, Multiple renal cysts, Increa...	ORPHA:2924
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly, Aminoaciduria	ORPHA:417
Inflammatory Pseudotumor Of The Liver	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alpha-fetopro...	ORPHA:90003
Cholestasis, Intrahepatic, Of Pregnancy 3	Abnormal liver function tests during pregnancy, Increased serum bile acid concentration during pr...	OMIM:614972
5-Oxoprolinase Deficiency	Reduced 5-oxoprolinase level, Increased level of L-pyroglutamic acid in urine, Prolinuria, Calciu...	OMIM:260005
Hyperprolinemia Type 1	Nephropathy, Hyperprolinemia, Proteinuria, Prolinuria	ORPHA:419
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Intrahepatic cholestasis, Jaundic...	OMIM:235555
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia, Hypoglycemia	ORPHA:366
Peroxisome Biogenesis Disorder 7B	Decreased liver function	OMIM:614873
Nephronophthisis 16	Renal insufficiency, Situs inversus totalis, Stage 5 chronic kidney disease, Cholestasis, Peripor...	OMIM:615382
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C...	ORPHA:79301
Beckwith-Wiedemann Syndrome	Hepatomegaly, Hepatoblastoma, Cardiomegaly, Adrenocortical carcinoma, Cryptorchidism, Pancreatic ...	OMIM:130650
Threoninemia	Hyperthreoninuria, Hyperthreoninemia	OMIM:273770
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp...	ORPHA:53035
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Benign Recurrent Intrahepatic Cholestasis	Elevated hepatic transaminase, Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, ...	ORPHA:65682
Yellow Fever	Renal insufficiency, Anuria, Acute pancreatitis, Elevated circulating creatine kinase concentrati...	ORPHA:99829
Hyperphenylalaninemia, Bh4-Deficient, D	Elevated urinary 7-biopterin level, Transient hyperphenylalaninemia, Hyperphenylalaninemia	OMIM:264070
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To	Increased level of L-pyroglutamic acid in urine, Glyoxalase deficiency, Reduced glutathione synth...	OMIM:231900
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H...	OMIM:613812
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Elevated hepatic transaminase, Cholangitis, Microvesicular hepatic steatosis, L...	OMIM:124000
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Giant cell hepatitis, Hepatomegaly, Elevated hepatic transaminase, Abnormal circulati...	ORPHA:79303
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Death in infancy, Conjugated hyperbilirubine...	OMIM:208085
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi...	OMIM:613496
Lipedema	Edema	OMIM:614103
Neonatal Hemochromatosis	Increased circulating ferritin concentration, Congenital hepatic fibrosis, Abnormal localization ...	ORPHA:446
Cholangiocarcinoma	Biliary tract neoplasm, Jaundice, Acholic stools	ORPHA:70567
Liver Failure, Infantile, Transient	3-hydroxydicarboxylic aciduria, Acute hepatic failure, Hepatomegaly, Dicarboxylic aciduria, Eleva...	OMIM:613070
Glucocorticoid Deficiency 3	Recurrent hypoglycemia	OMIM:609197
Dibasic Amino Aciduria I	Dibasicaminoaciduria, Argininuria, Hyperlysinuria, Ornithinuria	OMIM:222690
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Conjugated ...	OMIM:607765
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Int...	OMIM:243300
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E...	OMIM:616828
Congenital Bile Acid Synthesis Defect Type 3	Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala...	ORPHA:79302
Reticuloendotheliosis, X-Linked	Jaundice, Hepatosplenomegaly	OMIM:312500
Tyrosinemia, Type Ii	Hypertyrosinemia, 4-Hydroxyphenylpyruvic aciduria	OMIM:276600
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Ele...	ORPHA:100085
Congenital Disorder Of Glycosylation, Type Iip	Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Hepatic s...	OMIM:616829
Hyperbilirubinemia, Shunt, Primary	Splenomegaly, Hepatomegaly, Jaundice, Hyperbilirubinemia	OMIM:237800
Hawkinsinuria	Abnormal circulating tyrosine concentration, Failure to thrive, 4-hydroxyphenylacetic aciduria, 4...	ORPHA:2118
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia, Failure to thrive	ORPHA:172
Lambert Syndrome	Jaundice, Intrahepatic biliary atresia, Hypospadias	OMIM:245550
Hyper-Beta-Alaninemia	Increased urinary taurine, Hyperbeta-alaninemia	OMIM:237400
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po...	OMIM:602347
Harderoporphyria	Hepatomegaly, Increased urine harderoporphyrin level, Increased circulating ferritin concentratio...	OMIM:618892
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Abnormality of the pancreas, Abnormal liver parenchyma morphology, ...	ORPHA:3032
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Brain neoplasm, Elevated carcinoma antigen 125 level, Elevated circulat...	ORPHA:370348
Congenital Disorder Of Glycosylation, Type Iir	Elevated hepatic transaminase, Hepatomegaly, Hypospadias, Jaundice, Micronodular cirrhosis, Decre...	OMIM:301045
Peroxisome Biogenesis Disorder 8A (Zellweger)	Hepatomegaly, Jaundice, Elevated circulating aspartate aminotransferase concentration	OMIM:614876
Hyperprolinemia, Type I	Hydroxyprolinuria, Hyperprolinemia, Hyperglycinuria, Prolinuria	OMIM:239500
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Hepatic cysts,...	ORPHA:730
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly, Anemia	ORPHA:294
Ornithine Transcarbamylase Deficiency	Splenomegaly, Aminoaciduria, Hepatic failure, Hyperammonemia	ORPHA:664
Isolated Splenogonadal Fusion	Abnormal penis morphology, Unilateral cryptorchidism, Elevated circulating alpha-fetoprotein conc...	ORPHA:457083
Gallbladder Disease 1	Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ...	OMIM:600803
Cholestasis, Benign Recurrent Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Elevated circula...	OMIM:605479
Cystinuria	Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias...	OMIM:220100
Bile Acid Synthesis Defect, Congenital, 4	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Elevated ci...	OMIM:214950
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Hyperbilirubinemia, Intermittent jaundice	OMIM:179700
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr...	OMIM:618528
Glycogen Storage Disease Vi	Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia	OMIM:232700
Bile Acid Malabsorption, Primary, 2	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:619481
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Increased circulating lactate dehydrogenase concentration, Hepatomegaly, Elevated circulating ala...	OMIM:605911
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Splenomegaly, Intermittent...	OMIM:601847
Dubin-Johnson Syndrome	Hepatomegaly, Abnormal urinary color, Conjugated hyperbilirubinemia, Jaundice, Biliary tract abno...	ORPHA:234
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Macrovesi...	OMIM:608836
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Hypertriglyceridemia, Acne, Recurrent skin infections, Erythema nodosum, Splenomega...	OMIM:300635
Iminoglycinuria	Hydroxyprolinuria, Hyperglycinuria, Prolinuria	OMIM:242600
Interstitial Nephritis, Karyomegalic	Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Elevated circulating creatinine c...	OMIM:614817
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Hypercholesterolemia, Incr...	OMIM:620211
Saccharopinuria	Citrullinuria, Hypercystinemia, Hyperammonemia, Cystinuria, Hyperlysinuria, Abnormality of circul...	ORPHA:3124
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity	Homocystinuria, Hyperhomocystinemia	OMIM:236250
Galactose Mutarotase Deficiency	Hepatomegaly, Abnormal circulating enzyme concentration or activity, Cholestasis, Decreased liver...	ORPHA:570422
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis...	OMIM:614480
Iga Nephropathy, Susceptibility To, 2	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus	OMIM:613944
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Glutamate-Cysteine Ligase Deficiency	Jaundice, Aminoaciduria, Hepatosplenomegaly	ORPHA:33574
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone	Hypoglycemia	OMIM:223500
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal segmental glomerul...	OMIM:308990
Cog7-Cdg	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea...	ORPHA:79333
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Proteinuria, Hypouricemia, Hypoph...	OMIM:616026
Congenital Nephrotic Syndrome, Finnish Type	Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, Proteinuria, Abnormal renal tubule...	ORPHA:839
Fanconi-Bickel Syndrome	Hepatomegaly, Hyperphosphaturia, Ketonuria, Proteinuria, Hypouricemia, Elevated circulating aspar...	OMIM:227810
Hemochromatosis, Neonatal	Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Prolonged neo...	OMIM:231100
Iga Nephropathy, Susceptibility To, 1	IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrit...	OMIM:161950
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Hepatic failure, Cirrhosis, Portal hypertension	OMIM:210050
Cholesteryl Ester Storage Disease	Nausea and vomiting, Hepatomegaly, Jaundice, Diarrhea, Cirrhosis, Hepatic failure	ORPHA:75234
Hyperinsulinism-Hyperammonemia Syndrome	Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia, Asymptomatic hype...	ORPHA:35878
Polyembryoma	Abnormal peritoneum morphology, Neoplasm of head and neck, Elevated circulating alpha-fetoprotein...	ORPHA:180229
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Dark yellow urine, Conjug...	ORPHA:30391
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Hepatic failure	ORPHA:3196
Fructose And Galactose Intolerance	Hypoglycemia	OMIM:229500
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Cardiomegaly	OMIM:300886
Lambert Syndrome	Hypospadias, Failure to thrive in infancy, Jaundice, Cholestasis, Intrahepatic biliary atresia	ORPHA:1296
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hepatomegaly, Lacticaciduria, Renal hypoplasia, Aminoaciduria, 3-Methylglutaconic aciduria, Death...	OMIM:604273
Glutamate Formiminotransferase Deficiency	Aminoaciduria, Elevated urinary formiminoglutamic acid level, Positive ferric chloride test	OMIM:229100
Carbamoyl-Phosphate Synthetase 1 Deficiency	Hypoargininemia, Aminoaciduria, Hyperammonemia, Episodic ammonia intoxication	ORPHA:147
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Arthritis, Nephritis	OMIM:216950
Preeclampsia/Eclampsia 1	Elevated hepatic transaminase, Proteinuria	OMIM:189800
Valinemia	Hypervalinemia, Valinuria	OMIM:277100
Combined Oxidative Phosphorylation Deficiency 16	Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El...	OMIM:615395
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Duplicated collecting system, Small for gestational age, Elevated circulating aspartate aminotran...	OMIM:617093
Hyperlysinemia, Type I	Hyperlysinemia, Hyperlysinuria	OMIM:238700
Hyperinsulinemic Hypoglycemia, Familial, 2	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:601820
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Elevated circulating aspartate aminotransferase concentration, Bilateral cryptorchidism, Intrahep...	OMIM:619685
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Malformation of the hepatic ducta...	OMIM:208540
Combined Oxidative Phosphorylation Deficiency 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614924
Porphyria Cutanea Tarda	Abnormal circulating porphyrin concentration, Elevated hepatic iron concentration, Hepatic steato...	ORPHA:101330
Hepatocellular Carcinoma	Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis	OMIM:114550
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Abnorm...	ORPHA:85445
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome...	OMIM:263200
Dicarboxylic Aminoaciduria	Aminoaciduria, Aspartic aciduria, Fasting hypoglycemia	OMIM:222730
Fanconi-Bickel Syndrome	Hepatomegaly, Hyperphosphaturia, Hypertriglyceridemia, Elevated circulating aspartate aminotransf...	ORPHA:2088
Odontomatosis-Aortae Esophagus Stenosis Syndrome	Hepatic failure, Dysphagia	ORPHA:2724
Hyperbiliverdinemia	Cholelithiasis, Decreased liver function, Cholestasis	OMIM:614156
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra...	ORPHA:139507
Complement Component C1S Deficiency	Hepatitis, Hashimoto thyroiditis	OMIM:613783
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Asplenia, Situs inver...	OMIM:615415
Coproporphyria, Hereditary	Hepatomegaly, Splenomegaly, Jaundice, Increased urinary porphobilinogen, Cutaneous photosensitivi...	OMIM:121300
Glycogen Storage Disease Vii	Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria, Jaundice, Gou...	OMIM:232800
3-Methylcrotonyl-Coa Carboxylase Deficiency	Abnormal circulating leucine concentration, Hypoglycemia, Hyperammonemia	ORPHA:6
Combined Oxidative Phosphorylation Deficiency 30	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:616974
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Proxi...	OMIM:231680
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po...	ORPHA:64743
Congenital Pancreatic Cyst	Jaundice, Pancreatitis	ORPHA:313906
Patent Ductus Venosus	Hepatic steatosis, Decreased liver function	OMIM:601466
Leber Congenital Amaurosis 1	Hyperthreoninuria, Hyperthreoninemia, Hepatomegaly	OMIM:204000
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Conj...	ORPHA:567983
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia	OMIM:240900
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi...	ORPHA:411593
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jaundice, Biliary tract abnormal...	ORPHA:1414
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Aminoaciduria, Failure to thrive	ORPHA:2278
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatomegaly, Hyperammonemia, Hyperornithinemia, Decreased liver function, Acute hepatitis, Homoc...	OMIM:238970
Cyanosis, Transient Neonatal	Hepatomegaly, Jaundice, Cyanosis	OMIM:613977
Hypermethioninemia Due To Adenosine Kinase Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ...	OMIM:614300
Cholestasis, Progressive Familial Intrahepatic, 6	Elevated hepatic transaminase, Failure to thrive, Conjugated hyperbilirubinemia, Intrahepatic cho...	OMIM:619484
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism	ORPHA:3000
Isolated Asymptomatic Elevation Of Creatine Phosphokinase	Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration	ORPHA:206599
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Increased circulating...	OMIM:616860
Isolated Growth Hormone Deficiency, Type Ia	Prolonged neonatal jaundice	OMIM:262400
Peroxisome Biogenesis Disorder 13A (Zellweger)	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio...	OMIM:614887
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Renal insufficiency, Gout, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decrease...	OMIM:162000
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Hyperinsulinism Due To Hnf1A Deficiency	Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diabetes of the yo...	ORPHA:324575
Testicular Germ Cell Tumor	Choriocarcinoma, Teratoma, Elevated circulating alpha-fetoprotein concentration, Embryonal neoplasm	OMIM:273300
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Hepatic fibrosis, Portal hypertension, Malformation ...	ORPHA:84081
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Nephrotic syndrome, Deat...	OMIM:269920
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,...	OMIM:602088
Hemolytic Anemia, Congenital, X-Linked	Dark urine, Jaundice	OMIM:301015
Liver Disease, Severe Congenital	Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Aminoaciduria, Hypocalcemia, Elevated hepat...	OMIM:619991
Tyrosinosis	Hypertyrosinemia	OMIM:276800
Short Stature Due To Partial Ghr Deficiency	Hypoglycemia	ORPHA:314802
Fadd-Related Immunodeficiency	Hepatic fibrosis, Decreased liver function	ORPHA:306550
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho...	OMIM:618913
Lethal Infantile Mitochondrial Myopathy	Fatal liver failure in infancy	ORPHA:254857
Cystic Echinococcosis	Elevated hepatic transaminase, Hepatomegaly, Abnormal peritoneum morphology, Abnormality of the t...	ORPHA:400
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Splenomega...	ORPHA:905
Malaria	Acute kidney injury, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration	ORPHA:673
Glutathione Synthetase Deficiency	Increased level of L-pyroglutamic acid in urine, Reduced glutathione synthetase level	OMIM:266130
Hypertryptophanemia	Hypertryptophanemia, Tryptophanuria	OMIM:600627
Megalencephaly	Atrial septal defect, Long penis, Macroorchidism	ORPHA:2477
Ethanolaminosis	Cardiomegaly	OMIM:227150
Camptodactyly-Taurinuria Syndrome	Increased urinary taurine, Aminoaciduria	ORPHA:1325
Cystathioninuria	Cystathioninemia, Cystathioninuria, Nephrolithiasis	ORPHA:212
Hyperlysinuria With Hyperammonemia	Dibasicaminoaciduria, Hyperlysinemia, Hyperlysinuria, Hyperammonemia	OMIM:238750
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Spl...	OMIM:211600
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp...	ORPHA:2137
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Aminoaciduria, Elevated circulating creatine kinase concentration, Death in childhood	OMIM:609560
Congenital Disorder Of Glycosylation, Type Iij	Elevated hepatic transaminase, Hepatomegaly, Chronic diarrhea, Feeding difficulties, Elevated cir...	OMIM:613489
Cholesteryl Ester Storage Disease	Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio...	OMIM:278000
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome...	ORPHA:131
Pyridoxal Phosphate-Responsive Seizures	Abnormal circulating glycine concentration, Abnormal circulating tyrosine concentration, Abnormal...	ORPHA:79096
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Skin rash, Splenomegaly, Increased circulating ferritin conce...	OMIM:603552
Relapsing Fever	Elevated hepatic transaminase, Elevated circulating C-reactive protein concentration, Jaundice, E...	ORPHA:91547
Anemia, Congenital Dyserythropoietic, Type Ii	Splenomegaly, Jaundice, Cholelithiasis, Reduced level of N-acetylglucosaminyltransferase II	OMIM:224100
Diarrhea 13	Recurrent hypoglycemia, Hypoalbuminemia	OMIM:620357
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Pancreatic fibrosis, Hepatocellular car...	OMIM:232220
Sulfite Oxidase Deficiency, Isolated	Sulfocysteinuria, Death in infancy, Elevated circulating creatine kinase concentration, Eczema, S...	OMIM:272300
Xanthinuria, Type I	Reduced xanthine dehydrogenase level, Xanthine nephrolithiasis, Xanthinuria, Hyperxanthinemia, Py...	OMIM:278300
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure	OMIM:616719
Tiglic Acidemia	Aminoaciduria	OMIM:275190
Propionic Acidemia	Hypoglycemia, Hyperammonemia	ORPHA:35
Glycine Encephalopathy 1	Hyperglycinemia, Hyperglycinuria, Death in infancy	OMIM:605899
Lysine Malabsorption Syndrome	Renal tubular lysine transport defect, Hyperlysinuria	OMIM:247950
Diaminopentanuria	Hyperlysinuria, Cystinuria	OMIM:222350
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Cachexia, Weight loss, Aminoaciduria, Proximal tubulopathy, Failure to thrive	OMIM:612075
Systemic Primary Carnitine Deficiency	Elevated hepatic transaminase, Hepatomegaly	ORPHA:158
Homozygous 11P15-P14 Deletion Syndrome	Hyperinsulinemia, Hypoglycemia, Generalized aminoaciduria	OMIM:606528
Ichthyosis, Split Hairs, And Amino Aciduria	Aminoaciduria	OMIM:242550
Beckwith-Wiedemann Syndrome	Ureteral duplication, Cardiomegaly, Leiomyosarcoma, Neoplasm, Hepatoblastoma, Vesicoureteral refl...	ORPHA:116
Wilson Disease	Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Aminoac...	OMIM:277900
Camptodactyly 1	Increased urinary taurine	OMIM:114200
Pulmonary Blastoma	Recurrent pneumonia, Weight loss	ORPHA:64741
3-Hydroxyisobutyric Aciduria	Aminoaciduria, Failure to thrive	OMIM:236795
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Hepatocellular carcinoma, Hyperlipidemi...	OMIM:232200
Caroli Syndrome	Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho...	ORPHA:480520
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss	ORPHA:99978
Peroxisome Biogenesis Disorder 6A (Zellweger)	Feeding difficulties in infancy, Hepatomegaly, Decreased liver function	OMIM:614870
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome	Aminoaciduria	ORPHA:79156
Carnosinase Deficiency	Carnosinuria	ORPHA:1361
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoglycemia	OMIM:609016
Heme Oxygenase 1 Deficiency	Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Elevate...	OMIM:614034
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Argininosuccinic Aciduria	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hyperglutaminemia, H...	OMIM:207900
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Recurrent otitis media, Splenomegaly, Hepatitis	ORPHA:444463
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Increased serum pyruvate, Hypoglycemia, Hyperammonemia, Elevated circulating suberic acid concent...	OMIM:615160
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614582
Carnosinemia	Carnosinuria	OMIM:212200
Wolcott-Rallison Syndrome	Hyponatremia, Acute hepatic failure, Renal insufficiency, Hepatomegaly, Elevated hepatic transami...	ORPHA:1667
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Hepatic failure, Hepatic steatosis, Vomiting	OMIM:617872
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Macrophage Activation Syndrome	Hepatomegaly, Increased inflammatory response, Hypertriglyceridemia, Elevated circulating asparta...	ORPHA:158061
Hydroxylysinuria	Hyperlysinuria	OMIM:236900
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen...	ORPHA:64753
Interstitial Lung And Liver Disease	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:615486
Congenital Disorder Of Glycosylation, Type Iih	Interface hepatitis, Elevated serum transaminases during infections, Elevated circulating asparta...	OMIM:611182
Succinic Semialdehyde Dehydrogenase Deficiency	Elevated urinary 4-hydroxybutyric acid, Decreased succinic semialdehyde dehydrogenase level, Incr...	OMIM:271980
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica...	OMIM:134600
Congenital Disorder Of Glycosylation, Type Ir	Chronic constipation, Gastroesophageal reflux, Decreased liver function	OMIM:614507
Methionine Malabsorption Syndrome	Aminoaciduria, Positive ferric chloride test	OMIM:250900
Hernia, Anterior Diaphragmatic	Neonatal death	OMIM:306950
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated hepatic transaminase, Hepatomegaly, Hyperglycinuria, Medium chain dicarboxylic aciduria,...	OMIM:201450
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Increased circulating free fatty acid level, Hypoglycemic seizures, Neon...	ORPHA:293964
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Elevated circulating aspartate aminotransferase...	OMIM:613752
Nephronophthisis 15	Elevated hepatic transaminase, Obesity, Nephronophthisis	OMIM:614845
Muscular Dystrophy, Cardiac Type	Elevated circulating creatine kinase concentration, Carnosinuria	OMIM:309930
Protoporphyria, Erythropoietic, 1	Cholelithiasis, Hepatic failure	OMIM:177000
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits...	ORPHA:449395
Short Stature Due To Ghsr Deficiency	Hypoglycemia	ORPHA:314811
Glycogen Storage Disease Xii	Hepatomegaly, Elevated circulating creatine kinase concentration, Cholelithiasis, Splenomegaly, J...	OMIM:611881
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Hypomethioninemia, Decreased methionine synthase activity, Homocystinuria, Hyperhomocystinemia	OMIM:250940
Idiopathic Achalasia	Decreased prealbumin level, Recurrent aspiration pneumonia, Weight loss	ORPHA:930
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hypoglycemia, Hyperuricemia	ORPHA:364
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death	OMIM:226735
Crigler-Najjar Syndrome	Jaundice, Abnormality of the liver, Infectious encephalitis	ORPHA:205
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, E...	ORPHA:731
Infantile Liver Failure Syndrome 2	Elevated hepatic transaminase, Jaundice, Vomiting, Acute hepatic failure	OMIM:616483
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Skin rash, Allergic rhinitis, Splenomegaly, Jaundice, Failure to thrive, Exocrine p...	OMIM:612714
Intellectual Developmental Disorder, X-Linked 14	Macroorchidism	OMIM:300062
Hypermanganesemia With Dystonia 1	Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Increased total iron binding capa...	OMIM:613280
Cystinosis	Renal insufficiency, Proteinuria, Portal hypertension, Renal tubular dysfunction, Aminoaciduria, ...	ORPHA:213
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan...	ORPHA:436271
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Fasting hypoglycemia, Abnormal circulating selenium concentration	ORPHA:171706
Congenital Disorder Of Deglycosylation 1	Hyperalaninemia, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating alpha-fetoprot...	OMIM:615273
Cerebral Creatine Deficiency Syndrome 3	Failure to thrive, Organic aciduria	OMIM:612718
Meckel Syndrome, Type 8	Pericardial effusion, Polycystic kidney dysplasia, Ambiguous genitalia, Hyperechogenic kidneys, E...	OMIM:613885
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reduced red cell pyruvate kinase level, Increased circulating ferritin concentration, Elevated tr...	ORPHA:766
Indolylacroyl Glycinuria With Mental Retardation	Hyperglycinuria	OMIM:243050
Fructose Intolerance, Hereditary	Elevated hepatic transaminase, Transient aminoaciduria, Hyperphosphaturia, Hepatomegaly, Jaundice...	OMIM:229600
Cystathioninuria	Cystathioninuria	OMIM:219500
Beta-Aminoisobutyric Aciduria	Beta-aminoisobutyric aciduria	OMIM:210100
Phosphohydroxylysinuria	Phosphohydroxylysinuria	OMIM:615011
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Methylmalonic acidemia, Hypomethioninemia, Decreased methionine synthase activity, Methylmalonic ...	OMIM:236270
Pituitary Hormone Deficiency, Combined, 4	Hypoglycemia	OMIM:262700
Phenylketonuria	Aminoaciduria	ORPHA:716
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Proteinuria, Focal segmental glomerulosclerosis, Splenomegaly, Thrombocytopenia, Op...	OMIM:617303
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Elevated urinary 3-hydroxybutyric acid, Ketonuria, Abnormal urine sebacic acid concentration, Hyp...	OMIM:615751
Nephronophthisis 18	Stage 5 chronic kidney disease, Cholestasis, Thickened glomerular basement membrane, Tubulointers...	OMIM:615862
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
Diabetes Mellitus, Permanent Neonatal, 4	Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus...	OMIM:618858
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, T...	ORPHA:470
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, B-cell lymphoma, Splenomegaly, Lymphoma, Breast carcinoma, Weight loss	ORPHA:86893
Methylmalonic Aciduria And Homocystinuria, Cblx Type	Methylmalonic acidemia, Homocystinuria, Methylmalonic aciduria, Hyperhomocystinemia	OMIM:309541
Homocarnosinosis	Carnosinuria	OMIM:236130
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Proteinuria, Abnormality of the k...	ORPHA:369
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome	Macroorchidism	ORPHA:85320
Blue Diaper Syndrome	Nephrocalcinosis, Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Glutathionuria	Reduced gamma-glutamyltransferase level, Urinary incontinence, Glutathionuria	OMIM:231950
Preeclampsia	Elevated hepatic transaminase, Increased body mass index, Proteinuria, Abnormality of the kidney,...	ORPHA:275555
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Cryptorchidism, Micropenis, Neonatal hyperbilirubinemia, Decreased response to growth hormone sti...	ORPHA:3363
Glycogen Storage Disease Ixa1	Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia, Hyperuricemia	OMIM:306000
Familial Expansile Osteolysis	Hydroxyprolinuria, Elevated circulating alkaline phosphatase concentration	OMIM:174810
Argininemia	Hepatomegaly, Micronodular cirrhosis, Hyperammonemia, Cholestasis, Diaminoaciduria, Portal fibros...	OMIM:207800
Combined Oxidative Phosphorylation Deficiency 14	Death in infancy, Copper accumulation in liver, Aminoaciduria, Death in childhood, Increased hepa...	OMIM:614946
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Aminoaciduria, Hypoplasi...	OMIM:214110
Dimethylglycine Dehydrogenase Deficiency	Elevated urinary N,N-dimethylglycine level, Elevated circulating creatine kinase concentration, E...	OMIM:605850
Stimmler Syndrome	Aminoaciduria	ORPHA:3199
Mu-Heavy Chain Disease	Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Weight loss, Nephropathy	ORPHA:100024
Combined Oxidative Phosphorylation Deficiency 36	Failure to thrive, Elevated circulating alanine aminotransferase concentration, Elevated circulat...	OMIM:617950
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Elevated amniotic fluid alpha-fetoprotein, Prolonged neonatal jaundice	ORPHA:423479
Myh9-Related Disease	Elevated hepatic transaminase, Renal insufficiency, Proteinuria, Nephropathy, Bruising susceptibi...	ORPHA:182050
Intellectual Developmental Disorder, X-Linked 2	Macroorchidism	OMIM:300428
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria	Alpha-aminoadipic aciduria, 2-hydroxyadipic aciduria	OMIM:204750
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hyperphosphaturia, Polyuria, Hypercalcemia, Splenomegaly, Primary hyper...	OMIM:239200
Alg6-Cdg	Abnormal circulating enzyme concentration or activity, Jaundice, Decreased LDL cholesterol concen...	ORPHA:79320
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hyper...	OMIM:618641
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, 3-Methylglutaconic aciduria	OMIM:619813
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Increased circulating ferritin concentration, Jaundice, Splenomegaly, Hepatitis, He...	OMIM:194380
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Death in childhood, Amin...	OMIM:220110
Mirizzi Syndrome	Dark urine, Elevated hepatic transaminase, Pancreatitis, Jaundice, Elevated circulating alkaline ...	ORPHA:521219
Congenital Toxoplasmosis	Elevated hepatic transaminase, Hepatomegaly, Abnormality of retinal pigmentation, Cardiomegaly, T...	ORPHA:858
Hyperprolinemia Type 2	Increased urine alpha-ketoglutarate concentration, Abnormal circulating enzyme concentration or a...	ORPHA:79101
Intrahepatic Cholestasis Of Pregnancy	Elevated hepatic transaminase, Skin rash, Abnormality of the pancreas, Jaundice, Elevated circula...	ORPHA:69665
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Mercaptolactate-Cysteine Disulfiduria	Aminoaciduria	OMIM:249650
Mulibrey Nanism	Hepatomegaly, Cachexia	ORPHA:2576
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated hepatic transaminase, Increased inflammatory response, Skin rash, Elevated circulating c...	ORPHA:542323
Mantle Cell Lymphoma	Splenomegaly, B-cell lymphoma, Weight loss	ORPHA:52416
Argininemia	Diaminoaciduria, Hyperammonemia	ORPHA:90
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Maculopapular exanthema, Skin ...	ORPHA:540
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Reduced red cell pyruvate kinase level, Splenomegaly, Jaundice, Cholecystitis, Unco...	OMIM:266200
Avian Influenza	Elevated hepatic transaminase, Miscarriage, Elevated circulating creatine kinase concentration, E...	ORPHA:454836
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Skin rash, Elevated circulating C-reac...	ORPHA:829
Fanconi Renotubular Syndrome 3	Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-...	OMIM:615605
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Decreased liver function, Hepatic cysts	OMIM:600666
Fragile X Syndrome	Macroorchidism, postpubertal, Congenital macroorchidism, Mitral valve prolapse	OMIM:300624
Maternal Uniparental Disomy Of Chromosome 2	Renal insufficiency, Hypospadias, Miscarriage, Decreased response to growth hormone stimulation t...	ORPHA:96179
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	3-hydroxydicarboxylic aciduria, Increased urine alpha-ketoglutarate concentration, Elevated circu...	OMIM:619355
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:614921
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnorm...	ORPHA:562639
Combined Oxidative Phosphorylation Deficiency 1	Fulminant hepatic failure, Hepatomegaly, Cholestasis, Feeding difficulties	OMIM:609060
Graft Versus Host Disease	Elevated hepatic transaminase, Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammat...	ORPHA:39812
Hyperglycinuria	Hyperglycinuria, Calcium oxalate nephrolithiasis	OMIM:138500
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Splenomegaly, Jaundice, Cholecystitis, Hyperbilirubinemia, Cholelithiasis	OMIM:235700
Isobutyryl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Decreased circulating car...	ORPHA:79159
Sickle Cell Anemia	Pigment gallstones, Osteomyelitis, Abnormality of the spleen, Elevated circulating creatinine con...	ORPHA:232
47,Xyy Syndrome	Male infertility, Macroorchidism, Hypospadias, Cryptorchidism, Increased circulating gonadotropin...	ORPHA:8
Diabetes Mellitus, Transient Neonatal, 3	Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ...	OMIM:610582
Complement Component 4B Deficiency	Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Recurrent pneumonia	OMIM:614379
Sarcosinemia	Hypersarcosinuria, Hypersarcosinemia	ORPHA:3129
Hartnup Disorder	Neutral hyperaminoaciduria	OMIM:234500
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated hepatic transaminase, Renal tubular dysfunction, Hyperbilirubinemia, Elevated circulatin...	OMIM:614886
Pyruvate Dehydrogenase E3 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Feeding difficulties, Vomiting, Hepatic failure	ORPHA:2394
Cardiac-Urogenital Syndrome	Bifid scrotum, Patent urachus, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Pe...	OMIM:618280
Dihydrolipoamide Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Decreased liver function, Feeding difficulties	OMIM:246900
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Acute hepatic failure, Hepatic fibrosis, Hepatosplenomegaly	ORPHA:466794
Babesiosis	Nausea and vomiting, Hepatomegaly, Anorexia, Jaundice, Hepatic failure	ORPHA:108
Immunodeficiency 56	Cholangitis, Chronic diarrhea, Cirrhosis, Chronic hepatitis due to cryptosporidium infection, Hep...	OMIM:615207
Hereditary Chronic Pancreatitis	Abnormal circulating enzyme concentration or activity, Elevated circulating C-reactive protein co...	ORPHA:676
Pancreatoblastoma	Jaundice, Pancreatic calcification, Elevated maternal serum alpha-fetoprotein	ORPHA:677
Combined Saposin Deficiency	Splenomegaly, Hepatomegaly, Optic atrophy	OMIM:611721
Mental retardation, x-linked, syndromic, Turner type	Macroorchidism	OMIM:300706
Infantile Liver Failure Syndrome 1	Acute hepatic failure, Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase	OMIM:615438
Molybdenum Cofactor Deficiency, Complementation Group C	Molybdenum cofactor deficiency, Hypouricemia, Sulfite oxidase deficiency, Increased urinary tauri...	OMIM:615501
Cirrhosis, Familial	Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Increased level of L-fu...	OMIM:215600
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Urethrovesical occlusion, Death in infancy, Elevated maternal serum alpha-fetoprotein	OMIM:226730
3-Methylglutaconic Aciduria Type 1	Hypoglycemia	ORPHA:67046
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Portal Hypertension, Noncirrhotic, 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:617068
Retinitis Pigmentosa 59	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Micropenis, Failure to thrive	OMIM:613861
Protoporphyria, Erythropoietic, X-Linked	Elevated hepatic transaminase, Cholelithiasis, Cutaneous photosensitivity, Increased erythrocyte ...	OMIM:300752
Mitochondrial Dna Depletion Syndrome 17	Hepatic failure	OMIM:618567
Kaposiform Lymphangiomatosis	Metrorrhagia, Pancreatic cysts, Splenomegaly, Thrombocytopenia, Abnormality of the lymphatic syst...	ORPHA:464329
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Aminoaciduria	OMIM:204730
Propionic Acidemia	Hepatomegaly, Increased level of hippuric acid in urine, Eczema, Hyperglycinuria, Hyperammonemia,...	OMIM:606054
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Hypoketotic hypoglycemia, Fasting hyp...	ORPHA:276580
Cog4-Cdg	Elevated hepatic transaminase, Fatal liver failure in infancy, Hepatosplenomegaly, Feeding diffic...	ORPHA:263501
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenom...	OMIM:235200
Cryoglobulinemic Vasculitis	Hepatomegaly, Renal insufficiency, Viral hepatitis, Proteinuria, Glomerulopathy, Splenomegaly, He...	ORPHA:91138
Undifferentiated Pleomorphic Sarcoma	Abnormal peritoneum morphology, Soft tissue sarcoma, Weight loss	ORPHA:2023
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Skin rash, Pustule, My...	ORPHA:139402
Maturity-Onset Diabetes Of The Young, Type 13	Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet...	OMIM:616329
Glutathione Peroxidase Deficiency	Neonatal hyperbilirubinemia	OMIM:614164
Neonatal Alloimmune Neutropenia	Jaundice, Pneumonia	ORPHA:464370
Classic Galactosemia	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:79239
Beta-Thalassemia	Hepatomegaly, Splenomegaly, Hepatitis, Abnormality of iron homeostasis, Cholelithiasis	ORPHA:848
Glycogen Storage Disease Ixb	Hypoglycemia, Hyperuricemia	OMIM:261750
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Wolman Disease	Nausea and vomiting, Hepatomegaly, Abdominal distention, Malnutrition, Hepatic failure	ORPHA:75233
Hyperinsulinism Due To Ucp2 Deficiency	Reactive hypoglycemia, Hypoglycemic seizures, Decreased circulating free fatty acid level, Recurr...	ORPHA:276556
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Methylmalonic acidemia, Hepatomegaly, Decreased methionine synthase activity, Skin rash, Cystathi...	OMIM:277380
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Osteootohepatoenteric Syndrome	Proteinuria, Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Cholestasis, Weigh...	OMIM:619377
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest...	OMIM:607685
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia	ORPHA:46532
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level, Goiter, Prolonged neonat...	ORPHA:95715
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Macroorchidism, ...	ORPHA:324410
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Hyperbilirubinemia	OMIM:618660
Primary Biliary Cholangitis	Portal hypertension, Conjugated hyperbilirubinemia, Jaundice, Hepatic failure, Biliary cirrhosis,...	ORPHA:186
North American Indian Childhood Cirrhosis	Biliary cirrhosis, Portal hypertension, Prolonged neonatal jaundice	OMIM:604901
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Liver abscess, Cholangitis, Overweight, Intrahepatic cholestasis, ...	ORPHA:69663
Coach Syndrome 2	Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated circulating creatinine conce...	OMIM:619111
Thrombotic Thrombocytopenic Purpura, Hereditary	Proteinuria, Hemolytic-uremic syndrome, Jaundice, Elevated circulating creatinine concentration, ...	OMIM:274150
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa...	OMIM:620135
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Aminoaciduria, Elevated circulating creatine kinase concentration, Methylmalonic aciduria	ORPHA:1933
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Death in infancy, Renal insufficiency, Polycystic liver disease, Proteinuria, Pancreatic fibrosis...	OMIM:208500
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Increased circulating thyroglobulin level, Portal hypertension, Pancreatic cysts, S...	OMIM:610199
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or...	ORPHA:79095
Hypercalcemia, Infantile, 1	Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Weight loss, Nephrocalcinosis, Failure ...	OMIM:143880
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Elevated hepatic transaminase, Failure to thrive, Ketonuria, Glycosuria	ORPHA:2089
Dent Disease	Renal insufficiency, Hyperphosphaturia, Proteinuria, Elevated circulating creatine kinase concent...	ORPHA:1652
Bacterial Toxic-Shock Syndrome	Renal insufficiency, Recurrent urinary tract infections, Fasciitis, Glomerulonephritis, Elevated ...	ORPHA:36234
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Go...	OMIM:609734
Encephalopathy Due To Sulfite Oxidase Deficiency	Aminoaciduria	ORPHA:833
Legionnaires Disease	Hyponatremia, Renal insufficiency, Pericarditis, Proteinuria, Splenomegaly, Jaundice, Myocarditis...	ORPHA:549
Sea-Blue Histiocyte Disease	Splenomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a...	OMIM:269600
Pearson Marrow-Pancreas Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypercalciuria, Macronodular ci...	OMIM:557000
Spherocytosis, Type 1	Splenomegaly, Cholelithiasis, Jaundice, Hyperbilirubinemia	OMIM:182900
Fumarase Deficiency	Necrotizing enterocolitis, Increased urine succinate level, Decreased fumarate hydratase activity...	OMIM:606812
Hemochromatosis, Type 2A	Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Dilated cardiomyopathy, Cardiomyopathy...	OMIM:602390
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Secondary amenorrhea, Cardiomyopathy, ...	OMIM:613313
Combined Oxidative Phosphorylation Deficiency 40	Neonatal death, Death in infancy, Hypoglycemia, Elevated circulating creatine kinase concentration	OMIM:618835
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperammonemia	OMIM:618120
Meacham Syndrome	Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Septate vagina,...	OMIM:608978
Mast Cell Sarcoma	Splenomegaly, Hepatomegaly, Sarcoma, Weight loss	ORPHA:66661
Combined Oxidative Phosphorylation Deficiency 42	Neonatal death, Death in infancy, Hypoglycemia, Elevated circulating creatine kinase concentration	OMIM:618839
Alpha-Fetoprotein, Hereditary Persistence Of	Elevated circulating alpha-fetoprotein concentration	OMIM:615970
Partington Syndrome	Macroorchidism	ORPHA:94083
Mitochondrial Trifunctional Protein Deficiency 2	Death in infancy, Increased circulating NT-proBNP concentration, Hypoglycemia, Elevated circulati...	OMIM:620300
Mpi-Cdg	Gastrointestinal hemorrhage, Hepatomegaly, Abnormal circulating enzyme concentration or activity,...	ORPHA:79319
Sickle Cell Disease	Hepatomegaly, Hemolytic anemia, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Spleni...	OMIM:603903
2,4-Dienoyl-Coa Reductase Deficiency	Death in infancy, Hyperlysinuria, Reduced liver 2,4-dienoyl-CoA reductase activity, Death in chil...	OMIM:616034
Trichohepatoenteric Syndrome 2	Hepatomegaly, Decreased serum iron, Chronic hepatitis, Colitis, Cirrhosis	OMIM:614602
Mccune-Albright Syndrome	Hyperplasia of the Leydig cells, Pancytopenia, Hyperphosphaturia, Elevated circulating growth hor...	ORPHA:562
Diabetes Mellitus, Permanent Neonatal, 1	Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hy...	OMIM:606176
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis	ORPHA:59303
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Pigment gallstones, Splenomegaly, Jaundice, Decreased glucosephosphate isomerase level, Cholecyst...	OMIM:613470
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hyperinsulinemia, Hypoglycemic seizures, Decreased circulating free fatty acid level, Hypoketotic...	ORPHA:276575
Ataxia-Oculomotor Apraxia 3	Elevated circulating alpha-fetoprotein concentration	OMIM:615217
Mitchell-Riley Syndrome	Absent gallbladder, Biliary atresia, Cholestasis, Acholic stools, Hyperbilirubinemia, Annular pan...	OMIM:615710
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney, Large for gestational age	OMIM:618272
Ataxia-Telangiectasia	Sinusitis, Elevated circulating alpha-fetoprotein concentration, Lymphoma, Bronchiectasis, Hodgki...	OMIM:208900
Dent Disease 1	Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N...	OMIM:300009
Carnitine Palmitoyl Transferase 1A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hepatic failure	ORPHA:156
Argininosuccinic Aciduria	Hyperglutaminemia, Hyperammonemia, Aminoaciduria, Oroticaciduria, Hypoargininemia	ORPHA:23
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal...	OMIM:306955
Gallbladder Neuroendocrine Tumor	Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Weight loss, Elevated ga...	ORPHA:100086
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Hepatic steatosis, Tubuloin...	ORPHA:79259
Peroxisome Biogenesis Disorder 7A (Zellweger)	Hepatomegaly, Jaundice, Elevated circulating tetracosanoic acid concentration, Elevated circulati...	OMIM:614872
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Spondylometaphyseal Dysplasia, Axial	Cone/cone-rod dystrophy, Splenomegaly, Optic atrophy, Rod-cone dystrophy, Retinal degeneration, R...	OMIM:602271
Prolidase Deficiency	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Eczema, Hyperimidodi...	OMIM:170100
Fragile X Syndrome	Macroorchidism, Mitral valve prolapse	ORPHA:908
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:348
Proteinuria, Chronic Benign	Albuminuria, Renal insufficiency, Proteinuria	OMIM:618884
Intellectual Developmental Disorder, X-Linked, Syndromic 11	Macroorchidism	OMIM:300238
Autosomal Erythropoietic Protoporphyria	Cholelithiasis, Decreased liver function, Cirrhosis	ORPHA:79278
Tuberculosis	Weight loss	ORPHA:3389
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Hypoglycemia, Hyperammonemia	OMIM:620137
Fanconi Anemia, Complementation Group V	Elevated circulating alpha-fetoprotein concentration	OMIM:617243
Attrv30M Amyloidosis	Cardiomegaly, Vitreous floaters, Cardiomyopathy, Impotence, Nephropathy, Abnormal renal physiology	ORPHA:85447
Hemoglobin H Disease	Hepatomegaly, Hemolytic anemia, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Sandhoff Disease	Splenomegaly, Hepatomegaly, Cherry red spot of the macula	ORPHA:796
Glycogen Storage Disease Iii	Hyperlipidemia, Hypoglycemia, Elevated circulating creatine kinase concentration	OMIM:232400
Diaphanospondylodysostosis	Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Abnormal liver lobulation, Cystic renal ...	OMIM:608022
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Vomiting, Decreased liver function	OMIM:602199
Lysinuric Protein Intolerance	Hepatomegaly, Hypolysinemia, Increased circulating ferritin concentration, Splenomegaly, Stage 5 ...	OMIM:222700
Combined Oxidative Phosphorylation Deficiency 21	Neonatal death, Hyperalaninemia, Hepatic steatosis, Hyperprolinemia	OMIM:615918
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Renal insufficiency, Elevated circulating creatine kinase concentration, Elevated circulating acy...	ORPHA:228302
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa...	OMIM:267700
Nephroblastoma	Weight loss, Hematuria, Neoplasm of the liver, Neoplasm of the lung, Neoplasm, Nephroblastoma	ORPHA:654
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Elevated circulating creatinine concentration	OMIM:242530
Phenylketonuria	Maternal hyperphenylalaninemia, Reduced phenylalanine hydroxylase level, Increased level of hippu...	OMIM:261600
Isolated Follicle Stimulating Hormone Deficiency	Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h...	ORPHA:52901
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Splenomegaly, Jaundice, Hemoglobinuria, Unconjugated hyperbilirubinemia, Prolonged neonatal jaund...	OMIM:300908
Rh-Null, Regulator Type	Jaundice, Unconjugated hyperbilirubinemia	OMIM:268150
Dehydrated Hereditary Stomatocytosis 2	Splenomegaly, Hepatomegaly, Jaundice, Hyperbilirubinemia	OMIM:616689
Renal Cysts And Diabetes Syndrome	Renal cyst, Pancreatic hypoplasia, Hypospadias, Abnormality of the kidney, Abnormality of alkalin...	OMIM:137920
Spherocytosis, Type 4	Splenomegaly, Jaundice, Hyperbilirubinemia	OMIM:612653
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Ketonuria, Low plasma citrulline, Elevated circulating alanine aminotransferase con...	OMIM:261680
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Homocystinuria, Methioninuria, Hyperhomocystinemia, Hypermethioninemia, Hepatic steatosis, Pancre...	OMIM:236200
Molybdenum Cofactor Deficiency, Complementation Group A	Reduced xanthine dehydrogenase level, Molybdenum cofactor deficiency, Xanthine nephrolithiasis, H...	OMIM:252150
Idiopathic Congenital Hypothyroidism	Neonatal hyperbilirubinemia, Prolonged neonatal jaundice	ORPHA:95717
Glycogen Storage Disease Iv	Hepatic failure, Cirrhosis, Portal hypertension, Hepatosplenomegaly	OMIM:232500
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Recurrent pneumonia, ...	ORPHA:47
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Hypoglycemia	OMIM:615026
Neuraminidase Deficiency	Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel...	OMIM:256550
Citrullinemia Type I	Gastroesophageal reflux, Hepatic failure, Vomiting, Feeding difficulties	ORPHA:247525
D-Glyceric Aciduria	Abnormal circulating enzyme concentration or activity, Increased circulating free fatty acid leve...	ORPHA:941
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated hepatic transaminase, Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency,...	ORPHA:93111
Lujan-Fryns Syndrome	Atrial septal defect, Macroorchidism	ORPHA:776
Functioning Gonadotropic Adenoma	Macroorchidism, postpubertal, Decreased female libido, Decreased response to growth hormone stimu...	ORPHA:91348
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness	Glomerular basement membrane disruption, Nephritis, Stage 5 chronic kidney disease, Thickened glo...	OMIM:609057
Primary Sclerosing Cholangitis	Acute hepatic failure, Uveitis, Hypoalbuminemia, Hepatic fibrosis, Neoplasm of the gallbladder, E...	ORPHA:171
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Hypomethioninemia, Decreased methionine synthase activity, Cryptorchidism...	OMIM:614857
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Increased circulating lactate dehydrogenase concentration...	OMIM:309000
O'Donnell-Luria-Rodan Syndrome	Prolonged neonatal jaundice	OMIM:618512
Narcolepsy 3	Narcolepsy	OMIM:609039
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Splenomegaly, Jaundice, Hyperbilirubinemia, Prolonged neonatal jaundice	OMIM:185000
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hepatitis, Hyperammonemia, Hyperornithinemia, Decrea...	ORPHA:415
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Liver abscess, Abnormality of the kidney, Abnormality of the pancr...	ORPHA:54251
Systemic Lupus Erythematosus	Pericarditis, Lupus nephritis, Malar rash, Arthritis, Cutaneous photosensitivity, Nephritis	OMIM:152700
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly	OMIM:619175
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Hypospadias, Splenomegaly, Hepatosplenomegaly, Unconjugated hyperbilirubinemia, Hyp...	OMIM:613673
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Hepatosplenomegaly, Decreased l...	ORPHA:367
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated urinary 3-hydroxybutyric acid, Dicarboxylic...	ORPHA:42
3-Methylglutaconic Aciduria Type 4	Decreased liver function	ORPHA:67048
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Esophageal neoplasm, Hepatomegaly, Weight loss	ORPHA:2198
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly	ORPHA:139406
Maternal Uniparental Disomy Of Chromosome X	Hepatic failure	ORPHA:261519
Prolactin Deficiency With Obesity And Enlarged Testes	Macroorchidism, Reduced circulating prolactin concentration	OMIM:264120
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged kidney, ...	ORPHA:90301
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Hydroureter, Elevated circulating alpha-fetoprotein concentration, Hypertrophy of the urinary bla...	ORPHA:280633
2P21 Microdeletion Syndrome	Hypocalcemia, Nephrolithiasis, Cystinuria	ORPHA:163693
17Q11.2 Microduplication Syndrome	Macroorchidism	ORPHA:139474
Alpha-Thalassemia	Hypersplenism, Splenomegaly, Jaundice, Cholelithiasis	ORPHA:846
Multiple Mitochondrial Dysfunctions Syndrome 1	Increased urine alpha-ketoglutarate concentration, Death in infancy, Lacticaciduria, Hyperglycinu...	OMIM:605711
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T...	OMIM:104200
Pseudo-Torch Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Splenomegaly, Jaundice, Decreas...	OMIM:251290
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated hepatic transaminase, Hepatomegaly, Episodic abdominal pain, Reduced carnitine O-palmito...	ORPHA:228305
Mitochondrial Pyruvate Carrier Deficiency	Increased serum pyruvate, Hypoglycemia	OMIM:614741
Juvenile Nephropathic Cystinosis	Hyponatremia, Renal insufficiency, Proteinuria, Hypouricemia, Elevated alkaline phosphatase of bo...	ORPHA:411634
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine...	OMIM:255120
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Skin rash, Incre...	OMIM:603553
Atkin-Flaitz Syndrome	Macroorchidism	ORPHA:1193
Lymphatic Malformation 11	Pedal edema, Lymphedema	OMIM:619401
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat...	ORPHA:567544
Amyloidosis, Familial Visceral	Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy	OMIM:105200
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Ascites, Cystic renal dysplasia...	OMIM:200995
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate	Increased urine alpha-ketoglutarate concentration, Increased urine succinate level, Elevated urin...	OMIM:618384
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Splenomegaly, Bronchiectasis, Cirrhosis, Hepatocellular carcinoma,...	OMIM:613490
Griscelli Syndrome	Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Abnormal circulating lipid concentration	ORPHA:381
Thyroid Hemiagenesis	Jaundice	ORPHA:95719
Hsd10 Disease	Elevated urinary 3-hydroxybutyric acid, Abnormal urinary acylglycine profile	ORPHA:391417
Immunodeficiency 104	Splenomegaly, Hepatomegaly, T lymphocytopenia, Lymphadenopathy	OMIM:608971
Rhabdoid Tumor	Renal neoplasm, Weight loss, Hematuria, Neoplasm of the liver, Neoplasm of the central nervous sy...	ORPHA:69077
Congenital Cerebellar Ataxia Due To Rnu12 Mutation	Decreased liver function	ORPHA:512260
Tropical Pancreatitis	Pancreatic adenocarcinoma, Jaundice, Weight loss, Chronic calcifying pancreatitis, Abnormal pancr...	ORPHA:103918
Fanconi Renotubular Syndrome 2	Renal insufficiency, Proteinuria, Hypercalciuria, Generalized aminoaciduria, Hypophosphatemia, Re...	OMIM:613388
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa...	ORPHA:209902
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Feeding difficulties in infancy, Hepatic necrosis, Decreased 3-hydroxy...	OMIM:231530
Spherocytosis, Type 2	Splenomegaly, Jaundice, Hyperbilirubinemia	OMIM:616649
Isolated Congenital Hypoglossia/Aglossia	Aspiration pneumonia, Weight loss	ORPHA:141152
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Reduced level of N-acetylglucosaminyltransferase II, Splenomegaly, Hyperbilirubinem...	OMIM:224120
Familial Thyroid Dyshormonogenesis	Goiter, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Prolonged neonatal...	ORPHA:95716
Intellectual Developmental Disorder, X-Linked 21	Macroorchidism	OMIM:300143
Acth Deficiency, Isolated	Jaundice, Cholestasis	OMIM:201400
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Weight loss, Arthritis, Infectious encephalitis	ORPHA:42642
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated circulating creatine kinase concentration, Hyperammonemia, Hypoketotic hypoglycemia	OMIM:600649
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B...	OMIM:607626
Immunoneurologic Disorder, X-Linked	Neonatal death, Functional abnormality of the bladder	OMIM:300076
Thyrocerebrorenal Syndrome	Renal insufficiency, Nephritis	ORPHA:3327
Combined Oxidative Phosphorylation Deficiency 19	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat...	OMIM:615595
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Methylmalonic acidemia, Aminoaciduria, Elevated circulating creatine kinase concentration, Methyl...	OMIM:612073
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	Neonatal death, 3-Methylglutaconic aciduria	OMIM:615228
Autosomal Agammaglobulinemia	Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Hepatitis, Bronchiectasis, Arthri...	ORPHA:33110
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti...	OMIM:262190
Hypotonia-Cystinuria Syndrome	Failure to thrive, Nephrolithiasis, Cystinuria	ORPHA:163690
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre...	OMIM:300539
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Hyperinsulinemia, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyp...	ORPHA:276608
H Syndrome	Abnormality of the kidney, Microcytic anemia, Amenorrhea, Lymphadenopathy, Hepatosplenomegaly, Az...	ORPHA:168569
Gyrate Atrophy Of Choroid And Retina	Hyperornithinemia, Aminoaciduria	ORPHA:414
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:85450
Spinocerebellar Ataxia With Epilepsy	Acute hepatic failure	ORPHA:254881
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Abnormality of retinal pigmentation, Proteinuria, Heparan sulfate excretion in urine, Thrombocyto...	ORPHA:505248
Mixed-Type Autoimmune Hemolytic Anemia	Abnormal urinary color, Lymphoma, Skin rash, Increased total bilirubin	ORPHA:90036
Senior-Loken Syndrome 9	Stage 5 chronic kidney disease, Obesity, Cholestasis, Tubulointerstitial nephritis, Hepatic fibro...	OMIM:616629
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr...	OMIM:301068
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Hepatitis	ORPHA:363523
3-Methylglutaconic Aciduria, Type V	Noncompaction cardiomyopathy, Hypospadias, Elevated circulating aspartate aminotransferase concen...	OMIM:610198
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:91349
Riddle Syndrome	Pneumonia, Elevated circulating alpha-fetoprotein concentration, Recurrent pneumonia, Enuresis no...	ORPHA:420741
Peroxisome Biogenesis Disorder 11A (Zellweger)	Elevated hepatic transaminase, Renal cyst, Multiple renal cysts, Decreased liver function, Failur...	OMIM:614883
Anemia, Congenital Dyserythropoietic, Type Iiia	Hemosiderinuria, Increased circulating lactate dehydrogenase concentration, Jaundice, Reduced hap...	OMIM:105600
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, Colitis, Hypoalbuminemi...	ORPHA:37042
Combined Malonic And Methylmalonic Acidemia	Elevated hepatic transaminase, Failure to thrive, Dicarboxylic aciduria, Methylmalonic aciduria	ORPHA:289504
Griscelli Syndrome Type 2	Hepatomegaly, Splenomegaly, Hyperlipidemia, Jaundice, Premature graying of hair, Petechiae	ORPHA:79477
Nephronophthisis 13	Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Proteinuria, Pancrea...	OMIM:614377
Combined Oxidative Phosphorylation Deficiency 41	Hypoglycemia, Elevated circulating creatine kinase concentration	OMIM:618838
Reynolds Syndrome	Hepatomegaly, Telangiectasia of the skin, Skin rash, Jaundice, Arthritis, Keratoconjunctivitis si...	ORPHA:779
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Diarrhea, Hepatic fibrosis, Vomiting, Cirrhosis, Hepatic failure	OMIM:602579
Glycogen Storage Disease Ixd	Hypoglycemia, Elevated circulating creatine kinase concentration	OMIM:300559
Muscular Pseudohypertrophy-Hypothyroidism Syndrome	Jaundice	ORPHA:2349
Chromosome 1P35 Deletion Syndrome	Cryptorchidism, Elevated maternal serum alpha-fetoprotein	OMIM:617930
Hereditary Spherocytosis	Hepatomegaly, Maculopapular exanthema, Splenomegaly, Jaundice, Gout, Hyperbilirubinemia, Cholelit...	ORPHA:822
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio...	OMIM:256810
Denys-Drash Syndrome	Diffuse mesangial sclerosis, True hermaphroditism, Septate vagina, Gonadal tissue inappropriate f...	OMIM:194080
Neutropenia, Lethal Congenital, With Eosinophilia	Neonatal death	OMIM:257100
Desmoplastic Small Round Cell Tumor	Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Testicular neoplasm, Cach...	ORPHA:83469
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Portal vein thrombosis, Increased circulating ferritin concentration, Splenomegal...	ORPHA:3202
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Hypoglycemia	OMIM:610090
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Macroorchidism, Hypospadias, Iris coloboma, Mitral valve prolapse	OMIM:618874
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Hepatic failure, Hepatic fibrosis, Cholestasis	OMIM:615630
Alstrom Syndrome	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Renal insufficiency, Hype...	OMIM:203800
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Hypomethioninemia, Decreased methionine synthase activity, Methylmalonic ...	OMIM:277410
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly, Lymphocytosis	OMIM:606445
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Decreased methionine synthase act...	OMIM:277400
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Abnormal circulating enzyme concentration or activity, Gastroesophageal reflux, Decreased liver f...	ORPHA:70472
Sialidosis Type 1	Splenomegaly, Increased urinary O-linked sialopeptides, Aminoaciduria, Urinary excretion of sialy...	ORPHA:812
Beta-Thalassemia Intermedia	Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, Hepatosplenomegaly, Abnormality o...	ORPHA:231222
Rh Deficiency Syndrome	Miscarriage, Jaundice, Hepatosplenomegaly, Hyperbilirubinemia, Increased circulating lactate dehy...	ORPHA:71275
Congenital Isolated Acth Deficiency	Hyponatremia, Hyperkalemia, Hepatitis, Prolonged neonatal jaundice	ORPHA:199296
Hereditary Elliptocytosis	Splenomegaly, Jaundice, Hyperbilirubinemia, Prolonged neonatal jaundice, Cholelithiasis, Neonatal...	ORPHA:288
Niemann-Pick Disease, Type B	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Thrombocytopenia, Abnormal macular morphology...	OMIM:607616
Medullary Thyroid Carcinoma	Neoplasm of the skeletal system, Primary hyperparathyroidism, Abnormal liver parenchyma morpholog...	ORPHA:1332
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Methylmalonic acidemia, Elevated urinary 3-hydroxybutyric acid, Methylmalonic aciduria, Elevated ...	OMIM:614105
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Death in infancy, Elevated circulating aspartate aminotransferase concentration, Elevated circula...	OMIM:245400
Cystinosis, Nephropathic	Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets...	OMIM:219800
Pyruvate Carboxylase Deficiency	Increased serum pyruvate, Hyperalaninemia, Hypoglycemia	OMIM:266150
Familial Chylomicronemia Syndrome	Acute pancreatitis, Hypertriglyceridemia, Perianal abscess, Hyperlipidemia, Jaundice, Hepatosplen...	ORPHA:444490
Peroxisome Biogenesis Disorder 1A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Cryptorchidism, Death in childhood, A...	OMIM:214100
Multiple Mitochondrial Dysfunctions Syndrome 3	Beta-aminoisobutyric aciduria, Hyperglycinemia	OMIM:615330
Lysosomal Acid Lipase Deficiency	Hyponatremia, Elevated hepatic transaminase, Fatal liver failure in infancy, Hypertriglyceridemia...	ORPHA:275761
Congenital Enterovirus Infection	Skin rash, Myocarditis, Hepatitis, Cholestasis, Hyperammonemia, Hypoalbuminemia, Hepatic failure,...	ORPHA:292
Familial Atrial Myxoma	Jaundice, Cholestasis, Bacterial endocarditis	ORPHA:615
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Macroorchidism	ORPHA:3077
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Mildly elevated creatine kinase, Elevated circulating alpha-fetoprotein concentration	ORPHA:95433
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:203780
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P...	ORPHA:411527
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Cardiomegaly	OMIM:604765
Familial Pancreatic Carcinoma	Elevated hepatic transaminase, Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Hep...	ORPHA:1333
Clark-Baraitser syndrome	Macroorchidism	OMIM:300602
D-Glyceric Aciduria	Aminoaciduria, Reduced hepatic D-glycerate kinase activity, Nonketotic hyperglycinemia, Micropenis	OMIM:220120
Peroxisome Biogenesis Disorder 5A (Zellweger)	Conjugated hyperbilirubinemia, Renal cyst, Elevated gamma-glutamyltransferase level, Intrahepatic...	OMIM:614866
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Dextrocardia, Urethral atresia, Transposition of the great arteries, Atrioventricular canal defec...	OMIM:314390
Congenital Dyserythropoietic Anemia Type Iii	Elevated hepatic transaminase, Increased serum iron, Increased total iron binding capacity, Hyper...	ORPHA:98870
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Abnormal urinary color, Increased total bilirubin	ORPHA:90037
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Increased blood urea nitrog...	ORPHA:251004
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Inflammatory abnormality of the skin, Small for gest...	ORPHA:26793
Medullary Sponge Kidney	Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria	ORPHA:1309
Anemia, Congenital Dyserythropoietic, Type Ib	Splenomegaly, Hepatomegaly, Jaundice	OMIM:615631
Mulibrey Nanism	Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pigmentary retinopathy, Pericardial constriction...	OMIM:253250
Isolated Sedoheptulokinase Deficiency	Renal insufficiency, Portal hypertension, Hepatitis, Cholestasis, Cholestatic liver disease, Abno...	ORPHA:440713
Neuroendocrine Tumor Of Stomach	Elevated hepatic transaminase, Hepatomegaly, Nausea and vomiting, Poor appetite, Anorexia, Bowel ...	ORPHA:100075
Trimethylaminuria	Trimethylaminuria, Splenomegaly, Anemia, Neutropenia	OMIM:602079
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Death in infancy, Elevated circulating creatine kinase concentration, Death in adolescence, Amino...	OMIM:619055
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Fulminant hepatitis, Hepatic failure	OMIM:308240
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu...	OMIM:620138
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure	OMIM:611126
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Simple Cryoglobulinemia	Viral hepatitis, Renal insufficiency, Membranoproliferative glomerulonephritis, Pericarditis, Abn...	ORPHA:91139
Niemann-Pick Disease, Type A	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevat...	OMIM:257200
X-Linked Intellectual Disability, Shashi Type	Macroorchidism	ORPHA:85286
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Hereditary Orotic Aciduria	Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Oroticaciduria	ORPHA:30
Xp22.13P22.2 Duplication Syndrome	Macroorchidism, Polycystic ovaries	ORPHA:284180
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Osteosarcoma	Increased circulating lactate dehydrogenase concentration, Elevated circulating alkaline phosphat...	ORPHA:668
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate...	OMIM:305390
Lymphoid Interstitial Pneumonia	Hepatomegaly, Skin rash, Eczema, Bronchiectasis, Keratoconjunctivitis sicca, Rheumatoid arthritis...	ORPHA:79128
Meckel Syndrome, Type 1	Accessory spleen, Hypoplasia of the bladder, Renal agenesis, Malformation of the hepatic ductal p...	OMIM:249000
Hereditary Fructose Intolerance	Hepatomegaly, Renal insufficiency, Reduced circulating aldolase concentration, Jaundice, Chronic ...	ORPHA:469
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Pneumonia, Recurrent pneumonia, Hepatitis, Hepatosplenomegaly, Otitis m...	ORPHA:169160
Primary Hyperoxaluria Type 3	Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri...	ORPHA:93600
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hyperalaninemia, Decreased plasma free carnitine, Hypoglycemia	OMIM:619048
Congenital Disorder Of Glycosylation, Type Ik	Splenomegaly, Hepatomegaly, Hypogonadism, Cardiomyopathy	OMIM:608540
Focal Myositis	Myositis, Elevated circulating creatine kinase concentration, Weight loss	ORPHA:48918
Blue Diaper Syndrome	Elevated hepatic transaminase, Nephrocalcinosis, Increased body weight, Blue urine	ORPHA:94086
Bardet-Biedl Syndrome 21	Elevated hepatic transaminase, Overweight, Obesity, Horseshoe kidney	OMIM:617406
Narcolepsy 1	Narcolepsy	OMIM:161400
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Aminoaciduria, Failure to thrive	OMIM:250620
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia, Hypoglycemia	OMIM:240200
Endocardial Fibroelastosis	Hypoglycemia	ORPHA:2022
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hepatomegaly, Increased level of hippuric acid in urine, Glutaric aciduria, Hyperammonemia, 3-Met...	OMIM:246450
Majeed Syndrome	Hepatomegaly, Glomerulopathy, Inflammatory abnormality of the skin, Acne, Osteomyelitis, Cachexia...	ORPHA:77297
Hyperlipoproteinemia, Type I	Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati...	OMIM:238600
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hepatosplenomegaly, Intermitt...	OMIM:619644
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Hepatomegaly, Fetal ascites	OMIM:619462
Sepsis In Premature Infants	Hepatomegaly, Cyanosis, Small for gestational age, Elevated circulating C-reactive protein concen...	ORPHA:90051
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	Cryptorchidism, Hypoplasia of penis, Aplasia/Hypoplasia of the testes	ORPHA:3055
Reynolds Syndrome	Calcinosis, Hepatomegaly, Elevated hepatic transaminase, Erythema nodosum, Splenomegaly, Jaundice...	OMIM:613471
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Splenomegaly, Abnormality of the uret...	ORPHA:1046
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Feeding difficulties, Hepatic fib...	ORPHA:541423
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Renal insufficiency, Splenomegaly, Thrombocytopenia, Optic atrophy, Cardiomyopathy,...	ORPHA:79312
Hypotonia-Cystinuria Syndrome	Decreased response to growth hormone stimulation test, Nephrolithiasis, Cystinuria, Hypocalcemia,...	OMIM:606407
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye...	ORPHA:93110
Thrombotic Thrombocytopenic Purpura	Renal insufficiency, Proteinuria, Abnormal lactate dehydrogenase level, Hematuria, Decreased seru...	ORPHA:54057
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Hyperprolinemia, Hyper...	OMIM:619064
Trisomy 20P	Hypospadias, Abnormality of the kidney, Cryptorchidism, Abnormality of the ureter, Abnormal local...	ORPHA:261318
Immunodeficiency 47	Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Decreased circu...	OMIM:300972
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Megaloblastic Anemia, Folate-Responsive	Increased circulating ferritin concentration, Increased circulating lactate dehydrogenase concent...	OMIM:601775
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Death in infancy, Ectopic kidney, Cryptorchidism, Neonatal death, Cystic renal dysp...	OMIM:613730
Alveolar Echinococcosis	Liver abscess, Cholangitis, Portal hypertension, Pancreatic cysts, Abnormal mesentery morphology,...	ORPHA:284
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Macroorchidism, Male hypogonadism	OMIM:300055
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Elevated hepatic transaminase, Hyperlipidemia, Obesity	ORPHA:329249
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cryptorchidism, Aminoaciduria	OMIM:249270
Molybdenum Cofactor Deficiency, Complementation Group B	Molybdenum cofactor deficiency, Xanthine nephrolithiasis, Hypouricemia, Increased urinary sulfite...	OMIM:252160
Dermotrichic Syndrome	Aminoaciduria	ORPHA:99688
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hepatomegaly, Cholestasis, Abnormality of the liver, Hepatic failure	ORPHA:398124
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Hepatic failure, Portal hypertension	OMIM:619431
Neuroblastoma, Susceptibility To, 1	Elevated urinary catecholamine level, Ganglioneuroblastoma, Elevated urinary dopamine level, Abno...	OMIM:256700
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Hypoka...	OMIM:617913
Myasthenic Syndrome, Congenital, 22	Decreased response to growth hormone stimulation test, Cystinuria	OMIM:616224
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi...	OMIM:619463
Netherton Syndrome	Skin rash, Eczema, Ectopic kidney, Aminoaciduria, Erythroderma, Hydronephrosis	ORPHA:634
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Acute hyperammonemia, Ketonuria, Seborrheic dermatitis, Hyperglycinuria, Hyperammonemia, Organic ...	OMIM:210210
Aspergillosis	Sinusitis, Osteomyelitis, Abnormality of the kidney, Pneumonia, Hematological neoplasm, Keratitis...	ORPHA:1163
Mody	Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu...	ORPHA:552
Wild Type Attr Amyloidosis	Hepatomegaly, Renal insufficiency, Proteinuria, Weight loss, Nephrotic syndrome, Elevated circula...	ORPHA:330001
Neurooculocardiogenitourinary Syndrome	Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Coloboma, Atrial septal defect...	OMIM:618652
Congenital Rubella Syndrome	Splenomegaly, Hepatomegaly, Jaundice, Skin rash	ORPHA:290
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia	ORPHA:26792
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Hepatomegaly, Hyperglutamatemia, Lacticaciduria, Hype...	ORPHA:3008
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Hepatomegaly, Proteinuria, Glomerulonephritis, Supernumerary nipple, Elevated circulating creatin...	OMIM:614376
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Abetalipoproteinemia	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Cardiomegal...	ORPHA:14
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Myoglobinuria, Renal insufficiency, Hyperbilirubinemia	ORPHA:713
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Death in infancy, Dicarboxylic aciduria, Necrotizing enterocolitis, Elevated circul...	OMIM:201475
Mitochondrial Complex Iii Deficiency, Nuclear Type 9	Hypoglycemia	OMIM:616111
Hsd10 Mitochondrial Disease	Elevated circulating tiglylglycine concentration, Hypoglycemia	OMIM:300438
Leigh Syndrome	Abnormal circulating enzyme concentration or activity, Eczema, Lacticaciduria, Generalized aminoa...	ORPHA:506
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:617056
Q Fever	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Osteomyelitis, Maculopapular exanthema...	ORPHA:781
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Anuria, Peritonitis, Elevated circulating creatinine concentration, Hemoglobinuria,...	ORPHA:90038
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin...	OMIM:133780
Immunodeficiency 48	Splenomegaly, Hepatomegaly, Absence of CD8-positive T cells	OMIM:269840
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites	OMIM:271500
Immunodeficiency With Hyper-Igm, Type 1	Hepatomegaly, Splenomegaly, Hepatitis, Chronic hepatitis, Sclerosing cholangitis, Cirrhosis, Chro...	OMIM:308230
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen...	OMIM:606002
Congenital Disorder Of Glycosylation, Type Iif	Aminoaciduria, Proteinuria	OMIM:603585
Evans Syndrome	Jaundice, Bruising susceptibility, Petechiae	ORPHA:1959
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Weight loss, Rhinitis, Hypoalbuminemia	ORPHA:507
Adams-Oliver Syndrome 6	Ventricular septal defect, Portal hypertension, Splenomegaly, Renal hypoplasia, Hepatic fibrosis,...	OMIM:616589
Multicentric Reticulohistiocytosis	Arthritis, Cachexia	ORPHA:139436
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia	OMIM:617744
Bullous Pemphigoid	Psoriasiform dermatitis, Eczema, Erythema, Weight loss, Urticaria	ORPHA:703
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Generalized aminoaciduria, Elevated circulating alkaline phosphatase concentration, Hypocalcemia,...	OMIM:264700
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Recurrent urinary tract infections, Cholangitis, Biliary tract abnormality, Chro...	OMIM:209920
Ddost-Cdg	Elevated hepatic transaminase, Failure to thrive, Hepatic steatosis, Nephrotic range proteinuria	ORPHA:300536
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio...	OMIM:212140
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperkalemia, Elevated gamma...	OMIM:608885
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Increased iduronate sulfatase level, Increased serum beta-hexosaminidase, Cardiomeg...	OMIM:252500
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta...	ORPHA:309854
Laryngeal Neuroendocrine Tumor	Elevated carcinoembryonic antigen level, Weight loss	ORPHA:100083
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Lymphadenitis, Abnormality of the ur...	ORPHA:2552
Testicular Regression Syndrome	Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male...	ORPHA:983
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Optic disc pallor, Portal hypertension, Unilateral r...	OMIM:216360
Telangiectasia, Hereditary Hemorrhagic, Type 5	Elevated hepatic transaminase, Portal hypertension	OMIM:615506
Canavan Disease	Elevated urinary N-acetylaspartic acid level, Increased circulating N-acetylaspartic acid concent...	OMIM:271900
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Superficial dermal p...	ORPHA:284426
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Alg9-Cdg	Hepatomegaly, Hypoplasia of the bladder, Ventricular septal defect, Hepatic cysts, Ureteral hypop...	ORPHA:79328
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal h...	OMIM:252920
Pleural Mesothelioma	Hepatomegaly, Weight loss	ORPHA:50251
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration	OMIM:619468
Hemihyperplasia-Multiple Lipomatosis Syndrome	Abnormality of the lymphatic system, Hydrocele testis, Nephroblastoma, Ovarian serous cystadenoma...	ORPHA:276280
Chronic Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice	ORPHA:529808
Acute Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice	ORPHA:529799
Lathosterolosis	Elevated hepatic transaminase, Bilobate gallbladder, Intrahepatic cholestasis, Horseshoe kidney, ...	OMIM:607330
Aromatase Deficiency	Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit...	ORPHA:91
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Portal hypertension, J...	ORPHA:79124
Cog2-Cdg	Decreased liver function	ORPHA:435934
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Increased serum pyruvate, Death in infancy, Hyperprolinemia, Hyperalaninemia, Neonatal hypoglycemia	OMIM:619046
Trichohepatoenteric Syndrome 1	Hepatomegaly, Failure to thrive, Small for gestational age, Hypospadias, Abnormality of the pancr...	OMIM:222470
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Death in infancy, Cryptorchidism, Elevated circulating creatinine concentration, Ch...	OMIM:608104
Congenital Disorder Of Glycosylation, Type Iie	Hepatomegaly, Neurogenic bladder, Elevated circulating aspartate aminotransferase concentration, ...	OMIM:608779
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Recurrent urinary tract infecti...	OMIM:619487
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Stillbirth, Hypocalcemia, Hyperbilirubinemia, Hep...	OMIM:259720
Lichen Planopilaris	Neoplasm of the oral cavity, Hepatitis	ORPHA:525
Hemochromatosis, Type 3	Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin...	OMIM:604250
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Decreased circulating free fatty acid level, Recurrent hypoglycemia, Hyperinsulinemic hypoglycemi...	ORPHA:79644
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Hyperalaninemia, Hypoglycemia, Hyperammonemia	OMIM:614739
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Poikilo...	OMIM:615234
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Osteomyelitis, Failure to thrive in infancy, Pustule, Hyperkalemia, Atopic dermatit...	ORPHA:171876
Combined Oxidative Phosphorylation Deficiency 10	Hyperalaninemia, Hypoglycemia, Hyperammonemia	OMIM:614702
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Aminoaciduria, Hypoplastic nipples	OMIM:273400
Orthostatic Hypotension 2	Hypoglycemia	OMIM:618182
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eczema, Glomerulonephritis, Hepatitis, Arthritis, Erythroderma	OMIM:304790
Primary Fanconi Renotubular Syndrome	Hypouricemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Generalized am...	ORPHA:3337
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Hepatomegaly, Recurrent bacterial skin infections, Skin rash, Pneumonia, Jaundice, Recurrent cuta...	ORPHA:276
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Optic atrophy, Anemia, Thrombocytopenia	OMIM:615085
Mitochondrial Complex I Deficiency, Nuclear Type 35	Elevated urinary 4-hydroxybutyric acid, Lacticaciduria, Hyperprolinemia, Neonatal death, Hyperala...	OMIM:619003
Autoimmune Polyendocrine Syndrome, Type Ii	Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Chronic mucocutaneous candidiasis, Keratoconjunc...	OMIM:269200
Immunodeficiency 27A	Increased inflammatory response, Pneumonia, Splenomegaly, Weight loss, Hepatosplenomegaly, Salmon...	OMIM:209950
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated circulating creatine ki...	ORPHA:26791
Glucose-Galactose Malabsorption	Renal insufficiency, Hypercalcemia, Nephrolithiasis, Weight loss, Hematuria, Hypernatremia, Failu...	ORPHA:35710
Hyperparathyroidism, Transient Neonatal	Hyperparathyroidism, Unilateral renal agenesis, Ovarian cyst, Splenic cyst, Enlarged kidney	OMIM:618188
Glucoglycinuria	Hyperglycinuria, Glycosuria	OMIM:138070
Hijazi-Reis Syndrome	Hyperbilirubinemia	OMIM:301094
Pediatric Systemic Lupus Erythematosus	Dark urine, Myositis, Renal insufficiency, Proteinuria, Skin rash, Discoid lupus rash, Hematuria,...	ORPHA:93552
Diencephalic Syndrome	Neoplasm of the nervous system, Long penis, Cachexia, Decreased body weight	ORPHA:1672
Acquired Purpura Fulminans	Hepatic failure	ORPHA:49566
Distal Renal Tubular Acidosis	Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,...	ORPHA:18
Central Diabetes Insipidus	Hyponatremia, Failure to thrive, Nocturia, Weight loss	ORPHA:178029
Mitochondrial Complex I Deficiency, Nuclear Type 36	Optic disc pallor, Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Jaundice, Increased circulating lactate dehydrogenase concentration	OMIM:613839
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Hypoglycemia, Neonatal hypoglycemia	ORPHA:231140
Sialidosis Type 2	Hepatomegaly, Splenomegaly, Nephropathy, Ascites, Abnormal macular morphology	ORPHA:87876
Developmental And Epileptic Encephalopathy 75	Feeding difficulties in infancy, Decreased liver function, Prolonged neonatal jaundice	OMIM:618437
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer...	OMIM:603860
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hepatic fibrosis, ...	OMIM:619534
Pediatric-Onset Graves Disease	Elevated hepatic transaminase, Hepatomegaly, Episcleritis, Keratitis, Splenomegaly, Jaundice, Fai...	ORPHA:525731
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Hypogonadotropic hypogonadism, Portal hypertension, Cardiomegal...	ORPHA:465508
Paget Disease Of Bone 5, Juvenile-Onset	Increased urine deoxypyridinoline level, Hydroxyprolinemia, Hypercalciuria, Elevated circulating ...	OMIM:239000
Histidinuria-Renal Tubular Defect Syndrome	Histidinuria, Hypoglycemia	ORPHA:2158
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Peroxisome Biogenesis Disorder 5B	Decreased liver function	OMIM:614867
Chronic Mucocutaneous Candidiasis	Recurrent urinary tract infections, Skin rash, Cheilitis, Hepatitis, Hematuria	ORPHA:1334
Spastic Paraplegia-Precocious Puberty Syndrome	Hyperplasia of the Leydig cells, Precocious puberty in males	ORPHA:2826
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hepatomegaly, Stage 5 chronic kidney disease, Hyperammonemia, Methylmalon...	OMIM:251000
Alg1-Cdg	Chronic diarrhea, Decreased liver function	ORPHA:79327
Spondyloenchondrodysplasia	Enchondroma, Proteinuria, Decreased response to growth hormone stimulation test, Pneumonia, Skin ...	ORPHA:1855
Dominant Beta-Thalassemia	Hypoparathyroidism, Hepatocellular carcinoma, Hypersplenism, Splenomegaly, Jaundice, Chronic hepa...	ORPHA:231226
Glycogen Storage Disease Ixc	Hypertriglyceridemia, Hypoglycemia, Fasting hypoglycemia	OMIM:613027
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Failure to thrive, Aminoaciduria, Ketonuria, Large for gestational age	OMIM:614520
Autosomal Dominant Spastic Paraplegia Type 29	Abnormality of the lower urinary tract, Hyperbilirubinemia	ORPHA:101009
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Soft tissue neoplasm, Vaginal neoplasm, Genital neoplasm, Weight ...	ORPHA:2126
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Increased circulating free fatty acid level, Fa...	ORPHA:71212
Complement Factor I Deficiency	Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph...	OMIM:610984
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu...	OMIM:242150
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Renal insufficiency, Death in infancy, Renal hypoplasia, Renal cyst, Renal tubular ...	OMIM:614922
Castleman Disease	Renal insufficiency, Elevated circulating C-reactive protein concentration, Jaundice, Weight loss...	ORPHA:160
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase co...	ORPHA:228308
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Portal hypertension, Anorexia, Abdominal pain, Diarrhea, Hepatosplen...	ORPHA:98850
Spastic Paraplegia 29, Autosomal Dominant	Urinary incontinence, Urinary hesitancy, Urinary urgency, Neonatal hyperbilirubinemia, Nocturia	OMIM:609727
Becker Muscular Dystrophy	Elevated hepatic transaminase, Abnormal urinary color, Myoglobinuria	ORPHA:98895
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Cardiomy...	ORPHA:93476
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hyperammonemia, Ketonuria, Acute hepatic steatosis, Elevated urinary 3-methylcrotonylglycin...	OMIM:210200
Carnitine-Acylcarnitine Translocase Deficiency	Neonatal hypoglycemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamm...	OMIM:212138
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11	Hypoglycemia	ORPHA:231147
Allan-Herndon-Dudley Syndrome	Small for gestational age, Decreased body mass index, Failure to thrive in infancy, Prolonged neo...	ORPHA:59
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:157
Refractory Celiac Disease	Elevated hepatic transaminase, Inflammatory abnormality of the skin, Elevated alkaline phosphatas...	ORPHA:398063
Melioidosis	Foot osteomyelitis, Liver abscess, Pneumonia, Abnormality of the spleen, Osteoarthritis, Hepatiti...	ORPHA:31202
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay	Recurrent hypoglycemia	OMIM:618158
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia	ORPHA:100025
Alport Syndrome	Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo...	ORPHA:63
Citrullinemia, Classic	Hepatomegaly, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Cirrhosis, Elevat...	OMIM:215700
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Acute hepatic failure, Cholangitis, Portal hypertension, Hypersplenism, Hepatitis, Thyroiditis, H...	ORPHA:228426
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Atrial septal defect, Macroorchidism, Ventricular septal defect	OMIM:309520
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Retinal cotton wool spot, Normocytic anemia, Proteinuria, Nodular regenerative hyperplasia of liv...	ORPHA:247691
Congenital Disorder Of Glycosylation, Type Ij	Elevated hepatic transaminase, Jaundice, Hypoproteinemia	OMIM:608093
Mehmo Syndrome	Hypoglycemia	OMIM:300148
Inflammatory Bowel Disease (Crohn Disease) 1	Ulcerative colitis, Weight loss, Inflammation of the large intestine, Recurrent aphthous stomatit...	OMIM:266600
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Unilateral renal atrophy, Nephritis, Renal dysplasia, Pyelonephritis	OMIM:314300
Myasthenia Gravis	Myositis, Hepatitis, Rheumatoid arthritis, Glycosuria, Hashimoto thyroiditis	ORPHA:589
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Hypothyroidism Due To Tsh Receptor Mutations	Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Prolonged neonatal jaundi...	ORPHA:90673
Intestinal Dysmotility Syndrome	Failure to thrive, Weight loss	OMIM:620045
Eales Disease	Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti...	ORPHA:40923
Microphthalmia, Isolated 4	Coloboma, Absent testis	OMIM:613094
Elliptocytosis 1	Splenomegaly, Jaundice	OMIM:611804
Classic Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphoma, Weight loss, Neoplasm	ORPHA:391
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Acute hepatic failure, Vomiting, Elevated hepatic transaminase	OMIM:615453
Pseudomyxoma Peritonei	Abnormal peritoneum morphology, Inflammation of the large intestine, Weight loss	ORPHA:26790
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Hemolytic anemia, Autoimmune thrombocytopenia, Follicular hyperplasia...	OMIM:614470
Histidinuria Due To A Renal Tubular Defect	Impaired histidine renal tubular absorption, Histidinuria	OMIM:235830
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Endometrial carcinoma, Adrenal hyperplasia, Jaundice, Male pseudohermaphroditism, Macroorchidism,...	ORPHA:90790
Immunodeficiency By Defective Expression Of Mhc Class Ii	Sinusitis, Skin rash, Acute otitis media, Chronic mucocutaneous candidiasis, Sclerosing cholangit...	ORPHA:572
Refsum Disease, Classic	Retinal degeneration, Cardiomegaly, Cardiomyopathy, Rod-cone dystrophy, Abnormal renal physiology	OMIM:266500
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Macroorchidism, Elevated circulating growth hormone concentration	ORPHA:85327
Kaposi Sarcoma	Lymphoproliferative disorder, Abnormality of the spleen, Neoplasm by anatomical site, Weight loss...	ORPHA:33276
Autoimmune Hemolytic Anemia, Warm Type	Splenomegaly, Jaundice, Abnormal urinary color	ORPHA:90033
Pulmonary Edema Of Mountaineers, Susceptibility To	Edema, Pulmonary edema	OMIM:178400
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young	OMIM:609812
Paroxysmal Nocturnal Hemoglobinuria	Hemosiderinuria, Renal insufficiency, Proteinuria, Decreased serum iron, Abnormal erythrocyte enz...	ORPHA:447
Coenzyme Q10 Deficiency, Primary, 8	Elevated circulating creatinine concentration	OMIM:616733
Spherocytosis, Type 5	Splenomegaly, Jaundice	OMIM:612690
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Ventricular septal defect...	ORPHA:500095
Narcolepsy 7	Narcolepsy	OMIM:614250
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia, Abnormality of the menstrual cycle	ORPHA:721
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline	Urinary incontinence, Prolonged neonatal jaundice	OMIM:618868
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Retinopathy, Thr...	ORPHA:158029
Autoimmune Lymphoproliferative Syndrome	Hepatocellular carcinoma, Uveitis, Colitis, Thyroid carcinoma, Hepatomegaly, B-cell lymphoma, Hep...	ORPHA:3261
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Hypo...	ORPHA:411629
Monocarboxylate Transporter 1 Deficiency	Ketotic hypoglycemia	OMIM:616095
Bronchial Neuroendocrine Tumor	Hepatomegaly, Bowel urgency, Poor appetite, Anorexia, Protracted diarrhea, Hepatic failure	ORPHA:97287
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po...	OMIM:193235
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Ketonuria, Jaundice, Lipid accum...	ORPHA:20
Aicardi-Goutieres Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Chilblains, Splenomegaly, Erythema, Prolonged neonat...	OMIM:225750
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Hepatomegaly, Ketonuria, Hyperammonemia, Methylmalonic aciduria, Hypergly...	OMIM:251110
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Splenomegaly, Erythema, Weight loss, Panniculitis, Inflammatory abnormality of the eye	ORPHA:33577
Thyrocerebroretinal Syndrome	Nephritis	OMIM:274240
Nabais Sa-De Vries Syndrome, Type 1	Vesicoureteral reflux, Prolonged neonatal jaundice	OMIM:618828
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Hepatomegaly, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Hy...	OMIM:251100
Liposarcoma	Sarcoma, Abnormality of the kidney, Weight loss	ORPHA:69078
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Asplenia, Iridocyclitis, Chroni...	OMIM:240300
Lymphatic Malformation 8	Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema	OMIM:618773
Mucopolysaccharidosis Type 7	Splenomegaly, Mucopolysacchariduria, Hepatitis	ORPHA:584
17Q12 Microdeletion Syndrome	Elevated hepatic transaminase, Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasi...	ORPHA:261265
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Portal hypertension, Hypersplenism, Splenomegaly, Hepatitis, Hashimoto thyroiditis	OMIM:613385
Zellweger Syndrome	Hepatomegaly, Multicystic kidney dysplasia, Failure to thrive, Hypospadias, Jaundice, Hepatic fai...	ORPHA:912
Endocrine-Cerebroosteodysplasia	Small scrotum, Hypospadias, Cryptorchidism, Sex reversal, Microphallus, Ambiguous genitalia, Hype...	OMIM:612651
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated hepatic transaminase, Cachexia, Weight loss, Macrovesicular hepatic steatosis, Cirrhosis	ORPHA:298
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, He...	ORPHA:210136
Galactokinase Deficiency	Hypoglycemia, Hyperinsulinemia, Increased level of galactitol in plasma, Hypergalactosemia, Hyper...	ORPHA:79237
Genetic Recurrent Myoglobinuria	Elevated hepatic transaminase, Dark urine, Myositis, Renal insufficiency, Recurrent myoglobinuria...	ORPHA:99845
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma morphology, Hyperecho...	ORPHA:456312
Cerebral Creatine Deficiency Syndrome 2	Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration	OMIM:612736
Letterer-Siwe Disease	Stomatitis, Jaundice, Seborrheic dermatitis, Hepatosplenomegaly	OMIM:246400
Farber Disease	Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Intrahepati...	ORPHA:333
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Viral hepatitis, Recurrent urinary tract infections, Liver abscess, Chronic gastritis, Cholangiti...	ORPHA:183675
Glutaric Acidemia I	Hepatomegaly, Ketonuria, Glutaric aciduria, Reduced peroxisomal glutaryl-CoA oxidase activity, El...	OMIM:231670
Neuroendocrine Tumor Of The Colon	Elevated hepatic transaminase, Hepatomegaly, Weight loss, Atypical pulmonary carcinoid tumor, Car...	ORPHA:100080
Rift Valley Fever	Elevated hepatic transaminase, Miscarriage, Skin rash, Jaundice, Hepatitis, Uveitis, Hematuria, I...	ORPHA:319251
Postinfectious Vasculitis	Abnormal circulating protein concentration, Viral hepatitis, Inflammatory abnormality of the skin...	ORPHA:48435
Isolated Thyroid-Stimulating Hormone Deficiency	Thyroid hypoplasia, Pituitary hypothyroidism, Prolonged neonatal jaundice, Macroorchidism, Hyperc...	ORPHA:90674
Cranioectodermal Dysplasia 2	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Cholangitis, Splenomegaly, Recu...	OMIM:613610
Alagille Syndrome 1	Elevated hepatic transaminase, Duplicated collecting system, Failure to thrive, Hypertriglyceride...	OMIM:118450
Eosinophilic Fasciitis	Myositis, Fasciitis, Weight loss, Arthritis, Acrocyanosis	ORPHA:3165
Ileal Neuroendocrine Tumor	Elevated hepatic transaminase, Functional intestinal obstruction, Gastrointestinal obstruction, E...	ORPHA:100078
Insulin-Resistance Syndrome Type B	Proteinuria, Abnormality of body weight, Pneumonia, Skin rash, Abnormal circulating fatty-acid co...	ORPHA:2298
Chronic Hiccup	Weight loss	ORPHA:396
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Hepatomegaly, Abnormality of the urinary system	ORPHA:2204
Hypocalcemic Vitamin D-Dependent Rickets	Elevated alkaline phosphatase of bone origin, Generalized aminoaciduria, Hypocalcemia, Secondary ...	ORPHA:289157
Polyarteritis Nodosa	Pericarditis, Cutis marmorata, Abnormality of the kidney, Elevated circulating C-reactive protein...	ORPHA:767
Joubert Syndrome 8	Hepatomegaly, Obesity, Prolonged neonatal jaundice	OMIM:612291
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Optic disc pallor, Reticulocytosis, Splenomegaly, Optic atrophy, Anemia, Thrombocyt...	OMIM:611490
Leprechaunism	Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Increa...	ORPHA:508
Mitochondrial Trifunctional Protein Deficiency 1	Elevated hepatic transaminase, Small for gestational age, Elevated circulating aspartate aminotra...	OMIM:609015
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hepatic failure	ORPHA:159
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H...	ORPHA:47159
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm...	OMIM:619375
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Splenomegaly, Primary amenorrhea, Hepatosplenomegaly, Hepatic steatosis	OMIM:612526
Peroxisome Biogenesis Disorder 8B	Constipation, Decreased liver function, Dysphagia	OMIM:614877
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Niemann-Pick Disease, Type C1	Hepatomegaly, Fatal liver failure in infancy, Low cholesterol esterification rate, Prolonged neon...	OMIM:257220
Erythrokeratodermia Variabilis	Erythema, Cutaneous photosensitivity, Skin rash, Weight loss	ORPHA:317
Shigellosis	Anorexia, Abdominal pain, Cholestasis, Bloody diarrhea, Paralytic ileus, Bloody mucoid diarrhea, ...	ORPHA:810
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Glutaric Acidemia Type 3	Glutaric aciduria, Ketonuria, Abnormality of circulating enzyme level, Elevated circulating gluta...	ORPHA:35706
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Hypoglycemia	OMIM:610006
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Weight loss	ORPHA:545
Relapsing Polychondritis	Episcleritis, Glomerulopathy, Renal insufficiency, Pericarditis, Proteinuria, Chondritis of pinna...	ORPHA:728
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Splenomegaly, Urticaria, Nephrotic syndrome, Malar rash, Nephritis, Petechiae	OMIM:603909
Late-Onset Isolated Acth Deficiency	Hyponatremia, Hypoparathyroidism, Hypercalcemia, Pituitary adenoma, Adrenocorticotropic hormone d...	ORPHA:199299
Hyperphenylalaninemia, Bh4-Deficient, C	Hyperphenylalaninemia	OMIM:261630
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro...	OMIM:261740
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Increased circulating lactate dehydrogenase concentration, Hepatic steatos...	ORPHA:99901
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent urinary tract infections, Sinusitis, Aplasia of the thymus, Pneumonia, Atypical or prol...	ORPHA:83471
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Periodon...	ORPHA:534
Coenzyme Q10 Deficiency, Primary, 1	Hepatic failure, Episodic vomiting, Dysphagia	OMIM:607426
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha...	OMIM:617300
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Hypospadias, Cryptorchidism, Hypocalcemia, Hyperbilirubinemia, Capillary hema...	ORPHA:163979
Transaldolase Deficiency	Hepatomegaly, Patent ductus arteriosus, Micronodular cirrhosis, Hepatosplenomegaly, Hepatic fibro...	OMIM:606003
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Abnormal renal cortex morphology, Abnormality of the liver, Abnormality of the kidney, Hyperbilir...	ORPHA:464321
Autosomal Dominant Epidermolytic Ichthyosis	Cutaneous photosensitivity, Erythroderma, Weight loss	ORPHA:312
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Elevated circulating creatinine concentra...	OMIM:614723
Isaacs Syndrome	Weight loss	ORPHA:84142
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Sandhoff Disease	Hepatomegaly, Urinary incontinence, Cardiomegaly, Hepatosplenomegaly, Impotence, Cherry red spot ...	OMIM:268800
Ogden Syndrome	Global glomerulosclerosis, Bicuspid aortic valve, Left atrial enlargement, Ventricular septal def...	OMIM:300855
Tubulointerstitial Nephritis And Uveitis Syndrome	Elevated circulating C-reactive protein concentration, Sterile pyuria, Renal interstitial edema, ...	ORPHA:91500
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Autoimmune hypoparathyroidism, Iridocyclitis, Hepatitis, Biliary cirrhosis, T...	ORPHA:227982
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Abnormal circulating carnitine concentration, Renal tubular acidosis, Decreased activity of NADPH...	ORPHA:431361
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Abnormal circulating fatty-acid concentration, Hyperinsulinemia, Fasting hypoglycemia, Glycosuria...	ORPHA:263455
Acute Monoblastic/Monocytic Leukemia	Increased circulating lactate dehydrogenase concentration, Acute monocytic leukemia, Oliguria, We...	ORPHA:514
Dopamine Beta-Hydroxylase Deficiency	Hypoglycemia, Insulin resistance, Hyperinsulinemia, Elevated circulating creatinine concentration...	ORPHA:230
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Hepatic failure, Feeding difficulties	OMIM:619758
Pontocerebellar Hypoplasia, Type 13	Constipation, Decreased liver function, Feeding difficulties	OMIM:618606
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Nephrocalcinosis, Splenomegaly, Aminoaciduria	OMIM:616084
Hyperlysinemia	Abnormal circulating enzyme concentration or activity, Argininuria, Recurrent pneumonia, Hyperamm...	ORPHA:2203
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Elevated hepatic transaminase, Exocrine pancreatic insufficiency	OMIM:618752
Non-Functioning Paraganglioma	Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Weight los...	ORPHA:94080
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Iridocyclitis, Hepatitis, Biliary cirrhosis, Thymoma, Anterior pituitary dysg...	ORPHA:227990
Congenital Erythropoietic Porphyria	Recurrent bacterial skin infections, Abnormal circulating porphyrin concentration, Splenomegaly, ...	ORPHA:79277
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Increased circulating ferriti...	OMIM:615846
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Aciduria, ...	OMIM:203700
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Jaundice, Failure to thrive, Prolonged neonatal jaundice	OMIM:613038
Yao Syndrome	Inflammatory abnormality of the skin, Pericarditis, Skin rash, Nephrolithiasis, Weight loss, Arth...	OMIM:617321
Reticular Dysgenesis	Chronic otitis media, Failure to thrive, Skin rash, Weight loss	ORPHA:33355
Leptospirosis	Hepatomegaly, Pericarditis, Skin rash, Cellular urinary casts, Jaundice, Hepatitis, Uveitis, Hype...	ORPHA:509
Maple Syrup Urine Disease	Elevated circulating branched chain amino acid concentration, Hypoglycemia, Elevated circulating ...	OMIM:248600
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon...	ORPHA:860
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Joubert Syndrome 33	Cone/cone-rod dystrophy, Splenomegaly	OMIM:617767
Alg3-Cdg	Abnormal circulating enzyme concentration or activity, Decreased liver function, Feeding difficul...	ORPHA:79321
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ventricular septal defect, Unilateral ...	OMIM:614576
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Oropharyngeal squamous cell carcinoma, Inflammatory abnormality of the skin, Eczema, Functional a...	ORPHA:391487
Glucocorticoid Deficiency 2	Recurrent hypoglycemia	OMIM:607398
Igg4-Related Retroperitoneal Fibrosis	Renal insufficiency, Psoriasiform dermatitis, Deep dermal perivascular inflammatory infiltrate, D...	ORPHA:49041
Paget Disease Of Bone 2, Early-Onset	Hydroxyprolinuria, Elevated circulating alkaline phosphatase concentration, Hypercalcemia	OMIM:602080
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent urinary tract infections, Sinusitis, Decreased response to growth hormone stimulation t...	OMIM:307200
Mitochondrial Complex I Deficiency, Nuclear Type 19	Hypoglycemia	OMIM:618241
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Hyperkalemia, Hypoglycemia	OMIM:614736
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis	Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia	OMIM:620374
Pituitary Hormone Deficiency, Combined, 6	Neonatal hypoglycemia, Hypoglycemia, Hyperbilirubinemia	OMIM:613986
Overhydrated Hereditary Stomatocytosis	Splenomegaly, Increased circulating lactate dehydrogenase concentration, Intermittent jaundice	ORPHA:3203
Cirrhotic Cardiomyopathy	Hepatomegaly, Increased circulating NT-proBNP concentration, Abnormal circulating A-type atrial n...	ORPHA:57777
Bachmann-Bupp Syndrome	Cryptorchidism, Hyperbilirubinemia	OMIM:619075
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:614096
Lassa Fever	Jaundice, Conjunctivitis, Oliguria	ORPHA:99824
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Hepatomegaly, Ketonuria, Elevated circulating creatine kinase concentration, Highly elevated crea...	OMIM:251900
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Slender build, Cachexia, Weight loss	OMIM:613662
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Atopic dermatitis, Hepatosplenomegaly, Nephrotic syndrome, Membr...	OMIM:618999
Osteopetrosis, Autosomal Recessive 9	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:620366
Joubert Syndrome With Hepatic Defect	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Feeding difficulties in infancy...	ORPHA:1454
Hsd10 Disease, Infantile Type	Cardiomegaly, Optic atrophy, Abnormality of the lower urinary tract, Abnormal concentration of ac...	ORPHA:391428
Matthew-Wood Syndrome	Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Horseshoe kidney, Abnormal ...	ORPHA:2470
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Glomerulopathy, Ketonuria, Renal insufficiency, Hemoly...	ORPHA:79282
Generalized Pustular Psoriasis	Hyponatremia, Elevated hepatic transaminase, Renal insufficiency, Elevated circulating C-reactive...	ORPHA:247353
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hamartoma of tongue, Polycystic kidney dysplasia, Micropenis, Renal dysplasia, Enlarged kidney	OMIM:613091
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Elevated hepatic transaminase, Hepatomegaly, Nodular regenerative hyperplasia of liver, Microvesi...	ORPHA:404454
Alport Syndrome 1, X-Linked	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ...	OMIM:301050
Triosephosphate Isomerase Deficiency	Splenomegaly, Jaundice, Cholecystitis, Prolonged neonatal jaundice, Cholelithiasis, Failure to th...	OMIM:615512
8P11.2 Deletion Syndrome	Hemolytic anemia, Hypoplasia of penis, Retinal dystrophy, Hypogonadotropic hypogonadism, Splenome...	ORPHA:251066
Uruguay Faciocardiomusculoskeletal Syndrome	Elevated hepatic transaminase, Ventricular hypertrophy, Elevated circulating aspartate aminotrans...	OMIM:300280
Immunodeficiency 84	Splenomegaly, B lymphocytopenia	OMIM:619437
Hartnup Disease	Skin rash, Abnormal urinary color, Infectious encephalitis, Neutral hyperaminoaciduria	ORPHA:2116
Amoebiasis Due To Entamoeba Histolytica	Elevated hepatic transaminase, Liver abscess, Weight loss, Elevated circulating alkaline phosphat...	ORPHA:67
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hepatomegaly, Ketonuria, Renal hypoplasia	OMIM:619053
Felty Syndrome	Episcleritis, Hepatomegaly, Recurrent urinary tract infections, Sinusitis, Pericarditis, Splenome...	ORPHA:47612
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ...	ORPHA:75564
Laron Syndrome	Hypercholesterolemia, Hypoglycemia	ORPHA:633
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Hypoglycemia	ORPHA:48431
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Death in infancy, Psoriasiform dermatitis, T-cell lymphoma, Enterocolitis, Hypoplasia of the thym...	OMIM:243150
Peroxisome Biogenesis Disorder 6B	Elevated circulating phytanic acid concentration, Decreased liver function, Prolonged neonatal ja...	OMIM:614871
Hypouricemia, Renal, 1	Proteinuria, Hypouricemia, Elevated circulating creatinine concentration, Urolithiasis, Renal tub...	OMIM:220150
Secondary Short Bowel Syndrome	Low plasma citrulline, Abnormal blood ion concentration, Cholestasis, Weight loss, Enterocolitis,...	ORPHA:95427
Pyridoxine-Dependent Epilepsy	Hypoglycemia	ORPHA:3006
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Ventricular septal defect, Decreased response to growth hormone stimulation test, H...	OMIM:602782
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Glomerulonephritis, Cardiomegaly, Hepatosplenomegaly, Iron deficiency anemia	ORPHA:99931
Inflammatory Bowel Disease 11	Inflammation of the large intestine, Weight loss	OMIM:191390
Serotonin Syndrome	Diarrhea, Hepatic failure, Nausea	ORPHA:43116
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Large for gestational age, Prolonged neonatal jaundice	ORPHA:226313
C3 Glomerulopathy	Elevated circulating creatinine concentration	ORPHA:329918
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Eosinophilic Granulomatosis With Polyangiitis	Glomerulopathy, Myositis, Sinusitis, Cutis marmorata, Renal insufficiency, Increased inflammatory...	ORPHA:183
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Microvesicula...	OMIM:619418
Proteus Syndrome	Abnormality of retinal pigmentation, Thymus hyperplasia, Testicular neoplasm, Retinal hamartoma, ...	ORPHA:744
Familial Colorectal Cancer Type X	Benign neoplasm of the central nervous system, Renal neoplasm, Pancreatic adenocarcinoma, Gliobla...	ORPHA:440437
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Hypomethioninemia, Abnormal circulating enzyme concentration or activity, Hyperhomocystinemia, Cy...	ORPHA:395
Primary Hyperoxaluria	Elevated hepatic transaminase, Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic ...	ORPHA:416
Neuroendocrine Tumor Of The Rectum	Elevated hepatic transaminase, Hepatomegaly, Weight loss, Atypical pulmonary carcinoid tumor, Car...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Elevated hepatic transaminase, Hepatomegaly, Weight loss, Atypical pulmonary carcinoid tumor, Car...	ORPHA:100082
Mogs-Cdg	Hepatomegaly, Atrial septal defect, External genital hypoplasia, Cardiomegaly, Optic atrophy, Hep...	ORPHA:79330
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:264580
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Splenomegaly, Acute leukemia, Weight loss, Myeloproliferative disorder	ORPHA:3226
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Gaucher Disease	Hepatomegaly, Death in infancy, Osteomyelitis, Proteinuria, Elevated circulating C-reactive prote...	ORPHA:355
Pauci-Immune Glomerulonephritis	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i...	ORPHA:93126
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated hepatic transaminase, Recurrent urinary tract infections, Portal hypertension, Cholestas...	OMIM:613658
Congenital Factor Xiii Deficiency	Inflammation of the large intestine, Hepatic failure	ORPHA:331
Mitochondrial Complex I Deficiency, Nuclear Type 33	Hypoglycemia, Hyperammonemia	OMIM:618253
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemia, Recur...	ORPHA:97279
Systemic Capillary Leak Syndrome	Renal insufficiency, Pericarditis, Myocarditis, Oliguria, Weight loss, Pancreatitis, Abnormal ren...	ORPHA:188
Combined Oxidative Phosphorylation Deficiency 47	Hypoglycemia	OMIM:618958
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Remnants of the hyaloid vascular system, Retinal dystrophy, Posterior lenticonus, Chorioretinal c...	ORPHA:231736
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Cone/cone-rod dystrophy, Splenomegaly, Pancytopenia	OMIM:614979
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612924
Listeriosis	Pericarditis, Liver abscess, Osteomyelitis, Pneumonia, Pustule, Myocarditis, Jaundice, Peritoniti...	ORPHA:533
Citrullinemia Type Ii	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp...	ORPHA:247585
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy...	OMIM:618052
Ppoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Extrahepatic cho...	ORPHA:97278
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia	OMIM:613101
Carney Complex	Pituitary growth hormone cell adenoma, Leydig cell neoplasia, Ovarian serous cystadenoma, Abnorma...	ORPHA:1359
Ebola Hemorrhagic Fever	Acute pancreatitis, Maculopapular exanthema, Hepatitis	ORPHA:319218
Immunodeficiency 87 And Autoimmunity	Hepatomegaly, Atrophic gastritis, Hypertriglyceridemia, Small for gestational age, Elevated circu...	OMIM:619573
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy...	ORPHA:103910
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Elevated c...	OMIM:619525
Polyendocrine-Polyneuropathy Syndrome	Type I diabetes mellitus, Hypoglycemia, Elevated hemoglobin A1c	OMIM:616113
Glycogen Storage Disease Ic	Hepatomegaly, Renal insufficiency, Proteinuria, Stomatitis, Chronic pancreatitis, Hyperlipidemia,...	OMIM:232240
Al Amyloidosis	Hepatomegaly, Renal insufficiency, Increased circulating NT-proBNP concentration, Proteinuria, Ab...	ORPHA:85443
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Macular atrophy, Hypersplenism, Splenomegaly, Thrombocytopenia, Aorti...	OMIM:230800
Plasminogen Deficiency, Type I	Decreased level of plasminogen, Nephrolithiasis, Conjunctivitis, Periodontitis, Nephritis	OMIM:217090
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Hepatosplenomegaly, Hepatocellular ...	OMIM:618278
Muckle-Wells Syndrome	Hepatomegaly, Splenomegaly, Optic atrophy, Nephrotic syndrome, Renal amyloidosis, Nephropathy, An...	ORPHA:575
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612926
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Hepatic failure, Abdominal distention	OMIM:235255
Primary Myelofibrosis	Hepatomegaly, Portal hypertension, Cachexia, Hematological neoplasm, Splenomegaly, Hepatosplenome...	ORPHA:824
Kawasaki Disease	Pericarditis, Proteinuria, Skin rash, Myocarditis, Jaundice, Hepatitis, Sterile pyuria, Cheilitis...	ORPHA:2331
Acquired Central Diabetes Insipidus	Pollakisuria, Weight loss	ORPHA:95626
Holocarboxylase Synthetase Deficiency	Eczema, Hyperammonemia, Keratoconjunctivitis, Weight loss, Organic aciduria, Perioral eczema	ORPHA:79242
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re...	OMIM:193220
Mitochondrial Trifunctional Protein Deficiency	Feeding difficulties in infancy, Cholestasis, Diffuse hepatic steatosis, Poor suck, Chronic hepat...	ORPHA:746
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Ventricular septal defect, Splenomegaly, Pancreatic lymphangiectasis, Abnormal rena...	ORPHA:1655
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Splenomegaly, Lymp...	OMIM:618495
Beta-Thalassemia Major	Hepatomegaly, Failure to thrive in infancy, Hepatocellular carcinoma, Hypersplenism, Splenomegaly...	ORPHA:231214
Peritoneal Cystic Mesothelioma	Peritonitis, Weight loss	ORPHA:168816
Pemphigus Vulgaris	Urticaria, Recurrent cutaneous abscess formation, Weight loss	ORPHA:704
Orotic Aciduria	Orotic acid crystalluria, Oroticaciduria, Hematuria, Failure to thrive, Reduced orotidine 5-prime...	OMIM:258900
Resistance To Thyrotropin-Releasing Hormone Syndrome	Overweight, Abnormal circulating thyroglobulin level, Prolonged neonatal jaundice	ORPHA:99832
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Hepatomegaly, Hyperparathyroidism, Anemia	OMIM:618107
Cold Agglutinin Disease	Hepatomegaly, Abnormal urinary color, Hemolytic anemia, Splenomegaly, Lymphadenopathy	ORPHA:56425
Farber Lipogranulomatosis	Splenomegaly, Hepatomegaly, Cherry red spot of the macula, Lipogranulomatosis	OMIM:228000
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Recurrent skin infections, Herpes simplex encephalitis, Arteritis, Recurrent aphtho...	OMIM:233600
Elliptocytosis 3	Intermittent jaundice	OMIM:617948
Sporadic Pheochromocytoma/Secreting Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Elevated urinary nore...	ORPHA:276621
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Ketonuria, Lacticaciduria, Aspiration pneumonia, Neonatal death, Left ventricular h...	OMIM:619167
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Feeding difficulties, Bile duct proliferation, Macrovesicular hepa...	OMIM:618329
Giant Cell Arteritis	Gastrointestinal infarctions, Hepatic failure, Anorexia, Abdominal pain	ORPHA:397
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:601859
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Elevated circulating aspartate aminotransferase concentration, Elevated circulating uracil concen...	OMIM:311250
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, Optic atrophy, Cardiomyopathy, 3-Methylglutaconic aciduria, Increased hepatic glyco...	OMIM:619259
Immunodeficiency 82 With Systemic Inflammation	Osteomyelitis, Skin rash, B-cell lymphoma, Elevated circulating C-reactive protein concentration,...	OMIM:619381
Cryoglobulinemia, Familial Mixed	Elevated circulating creatinine concentration	OMIM:123550
Hereditary Cryohydrocytosis With Reduced Stomatin	Conjugated hyperbilirubinemia, Jaundice, Hepatosplenomegaly	ORPHA:168577
Histidinemia	Histidinuria, Hyperhistidinemia	ORPHA:2157
Meacham Syndrome	Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect, Ambiguous genitalia,...	ORPHA:3097
Niemann-Pick Disease, Type C2	Hepatomegaly, Low cholesterol esterification rate, Splenomegaly, Jaundice, Prolonged neonatal jau...	OMIM:607625
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Hepatic failure, Dysphagia, Hepatosplenomegaly	OMIM:608013
Bone Dysplasia, Lethal Holmgren Type	Hepatomegaly, Failure to thrive, Weight loss	ORPHA:1842
Porphyria, Congenital Erythropoietic	Hepatomegaly, Splenomegaly, Jaundice, Red urine, Conjunctivitis, Elevated circulating uroporphyri...	OMIM:263700
Immunodeficiency 54	Hepatomegaly, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopathy, Reduced natural ...	OMIM:609981
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Splenomegaly, Chylopericardium, Pulmonic stenosis, Ascites	ORPHA:2414
Zygomycosis	Renal insufficiency, Fasciitis, Sinusitis, Pericarditis, Gastritis, Hematological neoplasm, Pustu...	ORPHA:73263
Pseudo-Torch Syndrome 3	Proteinuria, Cardiomegaly, Lymphadenitis, Leukocytosis, Acute kidney injury, Congenital thrombocy...	OMIM:618886
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor...	OMIM:612840
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Gout, Hyperuricosuri...	ORPHA:79233
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos...	ORPHA:98848
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s...	OMIM:115197
Aredyld Syndrome	Hepatomegaly, Cachexia, Splenomegaly, Abnormality of the ureter, Refractory anemia with ringed si...	ORPHA:1133
Polycythemia Vera	Hepatomegaly, Portal hypertension, Myelodysplasia, Portal vein thrombosis, Splenomegaly, Weight l...	ORPHA:729
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia	ORPHA:163596
Martinez-Frias Syndrome	Hypoplasia of the gallbladder, Hypospadias, Extrahepatic biliary duct atresia, Annular pancreas, ...	OMIM:601346
Vipoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Erythema, Extrah...	ORPHA:97282
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612925
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Patent ductus arteriosus, Decreased liver function	OMIM:617021
Combined Oxidative Phosphorylation Deficiency 33	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Cardiomyopathy, Nephrotic syndrome, Le...	OMIM:617713
Malignant Peritoneal Mesothelioma	Peritonitis, Weight loss	ORPHA:168811
Methylmalonyl-Coa Epimerase Deficiency	Ketonuria, Elevated circulating palmitoleylcarnitine concentration, Methylmalonic aciduria, Hyper...	OMIM:251120
Simpson-Golabi-Behmel Syndrome, Type 1	Hepatomegaly, Atrial septal defect, Ventricular septal defect, Hypospadias, Supernumerary nipple,...	OMIM:312870
Hereditary Hemorrhagic Telangiectasia	Gastrointestinal hemorrhage, Portal hypertension, Cholecystitis, Cirrhosis, Cholelithiasis, Hepat...	ORPHA:774
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ...	OMIM:231005
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Splenomegaly, Thrombocytopenia, Pericardi...	ORPHA:77259
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Isovaleric Acidemia	Hyperglycinuria	OMIM:243500
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H...	OMIM:615122
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypoglycemia	OMIM:201910
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Panniculitis, Weight loss, Hepatosplenomegaly	ORPHA:86884
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Acne, Osteomyelitis, Elevated circulating C-reactive protein concentrati...	ORPHA:324964
Reni Syndrome	Hypertriglyceridemia, Hypoalbuminemia, Hypoglycemia	OMIM:617575
Systemic Mastocytosis With Associated Hematologic Neoplasm	Acute myeloid leukemia, Hepatomegaly, Myelodysplasia, Hematological neoplasm, Splenomegaly, Lymph...	ORPHA:98849
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Reduced subcutaneous adipose tissue, Cachexia, Weight loss, Premature graying of hair, Abnormal c...	ORPHA:1979
Polymyositis	Hepatomegaly, Breast carcinoma, Weight loss, Elevated circulating aldolase concentration, Abnorma...	ORPHA:732
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Hypoglycemia	ORPHA:231137
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c...	OMIM:120200
Somatostatinoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Extrahepatic cho...	ORPHA:97283
Pancreatic Agenesis 1	Pancreatic hypoplasia, Reduced C-peptide level, Pancreatic aplasia, Exocrine pancreatic insuffici...	OMIM:260370
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Biotinidase Deficiency	Hepatomegaly, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Splenomegaly, Hyperamm...	OMIM:253260
Glucagonoma	Neoplasm of the pancreas, Hepatomegaly, Skin rash, Hypercalcemia, Necrolytic migratory erythema, ...	ORPHA:97280
Thyroid Hypoplasia	Jaundice	ORPHA:95720
Acute Myelomonocytic Leukemia	Weight loss	ORPHA:517
Pancreatic Agenesis-Holoprosencephaly Syndrome	Absent gallbladder, Reduced C-peptide level, Decreased circulating lipoprotein lipase concentrati...	ORPHA:556955
Spinocerebellar Ataxia 48	Urinary incontinence, Cachexia	OMIM:618093
Bruck Syndrome 2	Hydroxyprolinuria	OMIM:609220
Xeroderma Pigmentosum	Keratitis, Cryptorchidism, Melanoma, Aminoaciduria, Neoplasm, Papilloma, Neoplasm of the eye, Ble...	ORPHA:910
Xfe Progeroid Syndrome	Elevated hepatic transaminase, Failure to thrive, Renal insufficiency, Prematurely aged appearanc...	OMIM:610965
Acute Liver Failure	Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Hepatic necrosis, Hyperammonemia, ...	ORPHA:90062
Tarp Syndrome	Hepatic failure	OMIM:311900
Chédiak-Higashi Syndrome	Hyponatremia, Elevated hepatic transaminase, Recurrent bacterial skin infections, Hypertriglyceri...	ORPHA:167
Aica-Ribosuria Due To Atic Deficiency	Hyponatremia, Hypoglycemia	OMIM:608688
Hereditary Pheochromocytoma-Paraganglioma	Arachnoid hemangiomatosis, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Protein...	ORPHA:29072
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Insulin resistance, Hypoglycemia, Neonatal hyperbilirubinemia	ORPHA:73272
Helsmoortel-Van Der Aa Syndrome	Recurrent urinary tract infections, Decreased response to growth hormone stimulation test, Crypto...	OMIM:615873
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Pituitary null cell adenoma, Pancreatic islet cell adenoma, Neoplasm of ...	ORPHA:97289
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial...	OMIM:613011
Degcags Syndrome	Hepatomegaly, Recurrent urinary tract infections, Hypospadias, Pneumonia, Bilateral renal dysplas...	OMIM:619488
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri...	ORPHA:555874
Moynahan Syndrome	Cachexia	ORPHA:2574
Immunodeficiency, Common Variable, 1	Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo...	OMIM:607594
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Histidinemia	Histidinuria, Hyperhistidinemia	OMIM:235800
Allergic Bronchopulmonary Aspergillosis	Bronchiectasis, Weight loss	ORPHA:1164
Malonyl-Coa Decarboxylase Deficiency	Hypoglycemia	OMIM:248360
Huntington Disease-Like 2	Weight loss	OMIM:606438
Mosaic Trisomy 9	Renal dysplasia, Hypoplasia of penis, Asplenia, Cryptorchidism, Horseshoe kidney, Abnormal liver ...	ORPHA:99776
Orthostatic Hypotension 1	Hypomagnesemia, Neonatal hypoglycemia, Increased blood urea nitrogen	OMIM:223360
Silver-Russell Syndrome 2	Neonatal hypoglycemia	OMIM:618905
Oculopharyngodistal Myopathy	Recurrent aspiration pneumonia, Weight loss	ORPHA:98897
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal hypertrophy, Ro...	OMIM:252930
Dystonia, Dopa-Responsive	Transient hyperphenylalaninemia	OMIM:128230
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoglycemia, Hypoketotic hypoglycemia	ORPHA:5
Lathosterolosis	Hepatomegaly, Hepatic failure, Intrahepatic cholestasis	ORPHA:46059
Aspartylglucosaminuria	Splenomegaly, Hepatomegaly, Aspartylglucosaminuria, Macroorchidism	ORPHA:93
Agammaglobulinemia, X-Linked	Recurrent urinary tract infections, Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent p...	OMIM:300755
Congenital Tufting Enteropathy	Weight loss, Arthritis, Cholestatic liver disease, Punctate keratitis, Failure to thrive	ORPHA:92050
Lynch Syndrome	Benign neoplasm of the central nervous system, Glioblastoma multiforme, Pancreatic adenocarcinoma...	ORPHA:144
Grfoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Extrahepatic cho...	ORPHA:97261
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Hypoglycemia, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:480864
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Glomerulopathy, Dysmenorrhea, Splenomegaly, Secondary amenorrhea, Polycystic ovarie...	ORPHA:2348
Cronkhite-Canada Syndrome	Hepatomegaly, Cachexia, Splenomegaly, Hamartomatous polyposis, Neoplasm	ORPHA:2930
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Ventricular septal defect, Hypospadias, Cardiomegaly, Hypertrophic cardiomyopathy, Micropenis, As...	OMIM:616897
Zollinger-Ellison Syndrome	Increased urinary cortisol level, Hypercalcemia, Jaundice, Erythema, Extrahepatic cholestasis, We...	ORPHA:913
Brucellosis	Liver abscess, Elevated circulating C-reactive protein concentration, Knee osteoarthritis, Abnorm...	ORPHA:1304
Idiopathic Hypereosinophilic Syndrome	Elevated hepatic transaminase, Inflammatory abnormality of the skin, Cholangitis, Myelodysplasia,...	ORPHA:3260
Pneumocystosis	Weight loss, Acute infectious pneumonia, Interstitial pneumonitis, Chronic oral candidiasis, Incr...	ORPHA:723
Hydroxykynureninuria	Stomatitis, Abnormal circulating tryptophan concentration, Renal tubular acidosis	ORPHA:79155
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Dysmenorrhea, Splenomegaly, Secondary amenorrhea, Primary amenorrhea, Polycystic ov...	ORPHA:79083
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Tracheobronchial leiomyomatosis, Diffuse leiomyomatosis, Proteinuria, Vaginal neoplasm, Vulvar ne...	ORPHA:1018
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
49,Xxxyy Syndrome	External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l...	ORPHA:261534
Timothy Syndrome	Hypoglycemia, Hypocalcemia	OMIM:601005
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Myositis, Hypertriglyceridemia, Sinusitis, Skin rash...	OMIM:617591
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:79292
Johanson-Blizzard Syndrome	Hepatomegaly, Hypospadias, Elevated circulating aspartate aminotransferase concentration, Urethro...	OMIM:243800
Myoclonic Epilepsy Of Lafora	Hepatic failure	OMIM:254780
Multiple Myeloma	Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Weight loss, Abnormal...	ORPHA:29073
Alpha-N-Acetylgalactosaminidase Deficiency	Oligosacchariduria, Cardiomegaly	ORPHA:3137
Mednik Syndrome	Death in infancy, Cholestasis, Death in childhood, Hepatic fibrosis, Cirrhosis, Increased circula...	OMIM:609313
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Aplasia/Hypoplasia of the pancreas	ORPHA:65288
Acute Disseminated Encephalomyelitis	Viral hepatitis, Herpes simplex encephalitis, Optic neuritis, Myelitis	ORPHA:83597
Stevens-Johnson Syndrome	Acute hepatic failure, Nausea and vomiting, Elevated hepatic transaminase, Gastrointestinal hemor...	ORPHA:36426
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Unilateral renal hypoplasia, Precocious puberty, Macroorchidism	OMIM:619950
Primary Sjögren Syndrome	Renal insufficiency, Chronic active hepatitis, Lymphoproliferative disorder, Glomerulonephritis, ...	ORPHA:289390
Temple Syndrome	Recurrent hypoglycemia, Type II diabetes mellitus	ORPHA:254516
Lymphangiectasia, Pulmonary, Congenital	Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,...	OMIM:265300
Macrocephaly/Autism Syndrome	Hepatomegaly, Penile freckling, Splenomegaly, Hydrocele testis, Lymphopenia	OMIM:605309
Cholera	Hyponatremia, Hypoglycemia, Miscarriage, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia	ORPHA:173
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Hepatomegaly, Pericarditis, Lymphadenopathy	ORPHA:85414
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, S...	OMIM:602450
X-Linked Intellectual Disability, Armfield Type	Facial capillary hemangioma, Cryptorchidism, Aminoaciduria, Organic aciduria, Galactosuria, Capil...	ORPHA:85276
Acquired Hypertrichosis Lanuginosa	Ovarian neoplasm, Weight loss, Neoplasm, Neoplasm of the breast, Neoplasm of the respiratory system	ORPHA:2221
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Splenomegaly, Hepatomegaly, Reduced renal corticomedullary differentiation	OMIM:618541
Beta-Ketothiolase Deficiency	Hyperglycemia, Hypoglycemia, Hyperuricemia, Hyperammonemia	ORPHA:134
Fucosidosis	Hepatomegaly, Mucopolysacchariduria, Abnormality of the gallbladder, Cardiomegaly	ORPHA:349
Alkaptonuria	Osteoarthritis, Nephrolithiasis, Arthritis, Aminoaciduria, Prostatitis	ORPHA:56
Hyperphenylalaninemia, Bh4-Deficient, A	Small for gestational age, Hyperphenylalaninemia	OMIM:261640
Dextrocardia	Abnormality of the spleen, Abnormal renal morphology, Abnormality of the ureter, Abnormality of a...	ORPHA:1666
Gm1-Gangliosidosis, Type I	Hepatomegaly, Abnormal heart valve morphology, Splenomegaly, Vacuolated lymphocytes, Dilated card...	OMIM:230500
Hereditary Central Diabetes Insipidus	Weight loss	ORPHA:30925
Aapoaiv Amyloidosis	Hyperlipidemia, Diabetes mellitus, Elevated circulating creatinine concentration	ORPHA:439232
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Death in infancy, Cryptorchidism, Renal hypoplasia, Renal cyst, Death in childhood, Prolonged neo...	OMIM:210710
Distal Xq28 Microduplication Syndrome	Neonatal hyperbilirubinemia	ORPHA:293939
Proprotein Convertase 1/3 Deficiency	Hypoinsulinemia, Reactive hypoglycemia	OMIM:600955
Diffuse Alveolar Hemorrhage	Hematuria, Proteinuria, Elevated circulating creatinine concentration, Weight loss	ORPHA:90060
Lujo Hemorrhagic Fever	Elevated hepatic transaminase, Renal insufficiency, Maculopapular exanthema, Skin rash, Elevated ...	ORPHA:319213
Sarcoidosis	Hepatomegaly, Renal insufficiency, Maculopapular exanthema, Hypercalcemia, Portal hypertension, E...	ORPHA:797
Marburg Hemorrhagic Fever	Elevated hepatic transaminase, Renal insufficiency, Pericarditis, Maculopapular exanthema, Elevat...	ORPHA:99826
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Elevated hepatic transaminase, Ketonuria, Elevated circulating creatine kinase concentration, Ele...	OMIM:616878
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Elevated hepatic transaminase, Osteomyelitis, Hypospadias, Jaundice, Neurofibroma, Hematuria, Hyp...	OMIM:619475
Parathyroid Carcinoma	Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Fibroma, Ne...	ORPHA:143
Shwachman-Diamond Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute myeloid leukemia, Hypopituitarism, Sinusitis, ...	ORPHA:811
Mucopolysaccharidosis, Type Iiia	Splenomegaly, Hepatomegaly, Heparan sulfate excretion in urine, Asymmetric septal hypertrophy	OMIM:252900
Diabetes Mellitus, Permanent Neonatal, 3	Ketonuria, Small for gestational age, Glycosuria	OMIM:618857
Multiple Sulfatase Deficiency	Hepatomegaly, Abnormality of retinal pigmentation, Splenomegaly, Optic atrophy, Mucopolysaccharid...	ORPHA:585
Chediak-Higashi Syndrome	Hepatomegaly, Recurrent bacterial skin infections, Splenomegaly, Jaundice, Periodontitis, Bruisin...	OMIM:214500
Apolipoprotein C-Ii Deficiency	Splenomegaly, Hepatomegaly, Pancreatitis, Lipemia retinalis	OMIM:207750
Sotos Syndrome	Abnormality of the kidney, Increased body weight, Otitis media, Prolonged neonatal jaundice	OMIM:117550
Celiac Disease, Susceptibility To, 1	Elevated hepatic transaminase, Eczema, Thyroiditis, Weight loss, Hypocalcemia, Recurrent aphthous...	OMIM:212750
Acute Interstitial Pneumonia	Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration	ORPHA:79126
Rat-Bite Fever	Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca...	ORPHA:31205
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dysmenorrhea, Splenomegaly, Irregular menstruation, ...	ORPHA:79240
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Recurrent urinary tract infections, Cor triatriatum, Intermittent thrombocytopenia,...	OMIM:612541
Eosinophilic Gastroenteritis	Allergic rhinitis, Elevated circulating C-reactive protein concentration, Atopic dermatitis, Weig...	ORPHA:2070
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs...	OMIM:226990
Syndromic Diarrhea	Hepatomegaly, Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Increased m...	ORPHA:84064
Cap Polyposis	Atrophic gastritis, Weight loss	ORPHA:160148
Mitochondrial Dna-Associated Leigh Syndrome	Hepatomegaly, Abnormality of Krebs cycle metabolism, Dysphagia, Hepatic failure, Episodic vomiting	ORPHA:255210
Toxic Epidermal Necrolysis	Acute hepatic failure, Nausea and vomiting, Elevated hepatic transaminase, Gastrointestinal hemor...	ORPHA:537
Mucopolysaccharidosis, Type Ii	Hepatomegaly, Papilledema, Abnormality of retinal pigmentation, Abnormal heart valve morphology, ...	OMIM:309900
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm...	ORPHA:3092
Idiopathic Chronic Eosinophilic Pneumonia	Generalized abnormality of skin, Atopic dermatitis, Elevated circulating C-reactive protein conce...	ORPHA:2902
Attrv122I Amyloidosis	Cardiomegaly, Cardiac amyloidosis, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Res...	ORPHA:85451
Oculoskeletodental Syndrome	Hepatomegaly, Renal agenesis, Splenomegaly, Cryptorchidism, Hypercalciuria, Mucopolysacchariduria	OMIM:618440
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Diabetes mellitus, Hypoglycemia	ORPHA:391408
Lissencephaly Due To Lis1 Mutation	Neonatal hyperbilirubinemia, Aspiration pneumonia	ORPHA:95232
Tryptophanuria With Dwarfism	Tryptophanuria	OMIM:276100
Genetic Transient Congenital Hypothyroidism	Increased circulating thyroglobulin level, Prolonged neonatal jaundice	ORPHA:226316
Pituitary Stalk Interruption Syndrome	Death in infancy, Hypoglycemia	ORPHA:95496
Aspartylglucosaminuria	Hepatomegaly, Aspartylglucosaminuria, Vacuolated lymphocytes, Neutropenia, Macroorchidism	OMIM:208400
Pearson Syndrome	Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hypo...	ORPHA:699
Omenn Syndrome	Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Nephrotic syndrome, Abno...	ORPHA:39041
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:619051
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu...	OMIM:314050
Polyendocrine-Polyneuropathy Syndrome	Type II diabetes mellitus, Hypoglycemia, Hypoinsulinemia	ORPHA:453533
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Transient hyperphenylalaninemia	OMIM:612716
Adams-Oliver Syndrome 5	Portal vein thrombosis, Splenomegaly, Hypersplenism, Right ventricular hypertrophy, Pulmonic sten...	OMIM:616028
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatomegaly, Micronodular cirrhosis, Hepatic failure	OMIM:301072
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Lymphadenitis, Leukocytosis, Dilated c...	OMIM:615895
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Death in infancy, Hypoglycemia	OMIM:620275
Igg4-Related Aortitis	Increased inflammatory response, Hydronephrosis, Elevated circulating C-reactive protein concentr...	ORPHA:449400
Juvenile Huntington Disease	Weight loss	ORPHA:248111
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hyperbilirubinemia	OMIM:301083
Hirschsprung Disease	Neoplasm of the thyroid gland, Failure to thrive in infancy, Weight loss	ORPHA:388
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Hepatos...	OMIM:618935
Autoimmune Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Increased circulating lactate dehydrogenase concentra...	ORPHA:747
Chops Syndrome	Ventricular septal defect, Splenomegaly, Cryptorchidism, Optic atrophy, Anomalous pulmonary venou...	OMIM:616368
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:235400
Birk-Landau-Perez Syndrome	Stage 3 chronic kidney disease, Renal insufficiency, Failure to thrive in infancy, Hyperkalemia, ...	OMIM:617595
Crimean-Congo Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Conjunctivitis, Cholecystitis, Morbilliform r...	ORPHA:99827
Takayasu Arteritis	Increased inflammatory response, Inflammatory abnormality of the eye, Arthritis, Weight loss	ORPHA:3287
Laryngotracheoesophageal Cleft Type 4	Abnormality of the spleen, Abnormal mesentery morphology, Cachexia	ORPHA:93941
Central Precocious Puberty In Male	Pituitary microadenoma, Abnormality of the testis size, Precocious puberty in males	ORPHA:649929
Hemorrhagic Fever-Renal Syndrome	Elevated hepatic transaminase, Anuria, Proteinuria, Pneumonia, Glomerulonephritis, Decreased glom...	ORPHA:340
Combined Immunodeficiency-Enteropathy Spectrum	Psoriasiform dermatitis, Hepatitis, Hypoplasia of the thymus, Abnormal ductus choledochus morphol...	ORPHA:436252
Fucosidosis	Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Glycopeptiduria, Oligosaccharid...	OMIM:230000
Neurooculorenal Syndrome	Hypoplasia of the bladder, Ectopic posterior pituitary, Unilateral renal agenesis, Conjugated hyp...	OMIM:620305
46,Xy Sex Reversal 10	Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias...	OMIM:616425
Cryptogenic Organizing Pneumonia	Cyanosis, Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:1302
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Nephropathy, Proteinuria, Cachexia	ORPHA:2774
Glucocorticoid Resistance, Generalized	Hypoglycemia	OMIM:615962
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Fasting hypoglycemia	ORPHA:436174
Congenital Disorder Of Glycosylation, Type Im	Death in infancy, Hypoketotic hypoglycemia, Increased circulating free fatty acid level	OMIM:610768
Houge-Janssens Syndrome 1	Hypoglycemia	OMIM:616355
Alexander Disease Type I	Failure to thrive, Cachexia	ORPHA:363717
Familial Adenomatous Polyposis	Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Angiofibromas, Papillary thyroid carcinoma, Ad...	ORPHA:733
Amyloidosis, Hereditary, Transthyretin-Related	Urinary incontinence, Cardiomegaly, Amyloid deposition in the vitreous humor, Cardiomyopathy, Imp...	OMIM:105210
Arterial Calcification, Generalized, Of Infancy, 2	Nephrocalcinosis, Right atrial enlargement, Cardiomegaly	OMIM:614473
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Cyanosis, Failure to thrive in infancy, Proteinuria, Chronic kidney disease, Tubulointerstitial n...	ORPHA:488627
Cantu Syndrome	Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly	OMIM:239850
Idiopathic Bronchiectasis	Acute infectious pneumonia, Bronchiectasis, Cachexia	ORPHA:60033
Isolated Succinate-Coq Reductase Deficiency	Vesicoureteral reflux, Weight loss	ORPHA:3208
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Hypoglycemia	OMIM:617710
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Peritonitis, Leukocytosis, Stag...	OMIM:249100
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hypokalemia, Weight loss	OMIM:188580
Multiple Sulfatase Deficiency	Splenomegaly, Hepatomegaly, Mucopolysacchariduria, Retinal degeneration	OMIM:272200
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Hepatomegaly, Anemia	OMIM:620296
Rheumatoid Arthritis	Rheumatoid arthritis, Elevated circulating C-reactive protein concentration, Weight loss	OMIM:180300
Mcleod Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Acanthocytosis, Sple...	OMIM:300842
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Elevated hepatic transaminase, Jaundice, Moderate albuminuria, Obesity	OMIM:614231
Hyperphenylalaninemia, Bh4-Deficient, B	Hyperphenylalaninemia	OMIM:233910
Acute Generalized Exanthematous Pustulosis	Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Renal insufficiency,...	ORPHA:293173
Occipital Horn Syndrome	Recurrent urinary tract infections, Jaundice, Hepatitis, Cholestasis, Bladder diverticulum, Esoph...	ORPHA:198
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia	ORPHA:157973
46,Xy Sex Reversal 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:154230
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Abnormality of the kidney, Thickened glomerular basement membra...	ORPHA:2614
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Hydroureter, Megacystis, Fetal megacystis, Neonatal death, Hydronephrosis	OMIM:619362
Mitochondrial Complex I Deficiency, Nuclear Type 1	Feeding difficulties in infancy, Hepatomegaly, Hepatic failure, Vomiting	OMIM:252010
Congenital Disorder Of Glycosylation, Type Iit	Decreased serum creatinine, Decreased HDL cholesterol concentration, Hypotriglyceridemia	OMIM:618885
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone...	OMIM:301078
Thymoma	Glomerulonephritis, Neoplasm of head and neck, Weight loss, Neoplasm of the lung, Neoplasm, Neopl...	ORPHA:99867
Familial Mediterranean Fever	Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Diarrhea, Gas...	ORPHA:342
Ring Chromosome 10 Syndrome	Hypocalcemia, Cachexia, Renal hypoplasia/aplasia	ORPHA:1438
Hypothyroidism, Congenital, Nongoitrous, 2	Increased circulating thyroglobulin level, Ectopic thyroid, Hyperbilirubinemia, Thyroid hypoplasi...	OMIM:218700
Post-Traumatic Pituitary Deficiency	Hypoglycemia	ORPHA:95619
Pituitary Hormone Deficiency, Combined, 2	Neonatal hypoglycemia, Hypoglycemic seizures	OMIM:262600
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Mucopolysaccharidosis Type 3	Hepatomegaly, Adenoiditis, Cardiomegaly, Splenomegaly, Heparan sulfate excretion in urine, Recurr...	ORPHA:581
Focal Dermal Hypoplasia	Acute hepatic failure, Patent ductus arteriosus, Gastroesophageal reflux, Abdominal pain	ORPHA:2092
Huntington Disease	Abnormal circulating cholesterol concentration, Decreased body mass index, Weight loss	ORPHA:399
Perry Syndrome	Weight loss	ORPHA:178509
Gardner Syndrome	Neoplasm of the pancreas, Astrocytoma, Brain neoplasm, Adrenocortical carcinoma, Pilomatrixoma, M...	ORPHA:79665
Dyskeratosis Congenita	Hepatomegaly, Hepatic failure, Cirrhosis	ORPHA:1775
Cranioectodermal Dysplasia 1	Hepatomegaly, Malformation of the hepatic ductal plate, Hepatic fibrosis, Protuberant abdomen, He...	OMIM:218330
Adrenocortical Carcinoma	Increased urinary cortisol level, Adrenocortical carcinoma, Increased body weight, Weight loss, A...	ORPHA:1501
Hyper-Igd Syndrome	Optic disc pallor, Neutrophilia, Splenomegaly, Lymphadenitis, Leukocytosis, Hepatosplenomegaly, L...	OMIM:260920
Senior-Loken Syndrome 1	Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen...	OMIM:266900
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Ménétrier Disease	Hypoproteinemia, Hypoalbuminemia, Giant hypertrophic gastritis, Weight loss	ORPHA:2494
Pierson Syndrome	Diffuse mesangial sclerosis, Retinal detachment, Remnants of the hyaloid vascular system, Protein...	OMIM:609049
Igg4-Related Pachymeningitis	Sinusitis, Elevated circulating C-reactive protein concentration, Lymphadenitis, Nephritis, Pancr...	ORPHA:449427
Donohue Syndrome	Postprandial hyperglycemia, Hyperglycemia, Hyperinsulinemia, Fasting hypoglycemia	OMIM:246200
Acute Promyelocytic Leukemia	Weight loss, Hematuria, Stomatitis, Ecchymosis, Bruising susceptibility, Petechiae, Purpura	ORPHA:520
X-Linked Intellectual Disability, Nascimento Type	Recurrent cutaneous abscess formation, Hypospadias, Cryptorchidism, Vesicoureteral reflux, Microp...	ORPHA:163956
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Splenomegaly, Hepatomegaly, Hypogonadism, Decreased testicular size	OMIM:201100
Whipple Disease	Hyponatremia, Hepatomegaly, Myositis, Pericarditis, Cachexia, Splenomegaly, Myocarditis, Uveitis,...	ORPHA:3452
Bohring-Opitz Syndrome	Retinal atrophy, Nephroblastoma, Cardiomegaly, Optic atrophy, Coloboma, Abnormal cardiac septum m...	ORPHA:97297
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Cardiomegaly, Elevated circulating alanine aminotransferase concentration, Oligosac...	ORPHA:308552
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Alpha-aminoadipic aciduria, 3-Methylglutaconic aciduria, Elevated urine acetoacetic acid level	OMIM:620089
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Hypokalemia, Weight loss	OMIM:613239
Cog8-Cdg	Hypoglycemia	ORPHA:95428
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Primrose Syndrome	Bilateral cryptorchidism, Cryptorchidism, Elevated circulating alpha-fetoprotein concentration	OMIM:259050
Trichohepatoneurodevelopmental Syndrome	Hepatomegaly, Patent ductus arteriosus, Chronic diarrhea, Feeding difficulties, Elevated circulat...	OMIM:618268
Hand-Foot-Genital Syndrome	Renal insufficiency, Hypospadias, Micropenis, Pyelonephritis, Chordee, Vesicoureteral reflux, Ure...	OMIM:140000
Coronary Arterial Fistula	Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac...	ORPHA:2041
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo...	OMIM:165550
Smith-Kingsmore Syndrome	Hypoglycemia	OMIM:616638
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Renal insufficiency, Abnormality of neutrophils, Abnormal retina...	ORPHA:33226
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Absent gallbladder, Elevated circulating alanine aminotransferase concentration, Elevated gamma-g...	OMIM:618500
Familial Adenomatous Polyposis 1	Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medulloblastoma, Desmoid tumor...	OMIM:175100
Acrodermatitis Enteropathica	Pustule, Erythema, Cheilitis, Weight loss, Conjunctivitis, Blepharitis, Failure to thrive, Genera...	ORPHA:37
3-Methylglutaconic Aciduria, Type Viii	3-Methylglutaconic aciduria, Jaundice, Failure to thrive, 3-Methylglutaric aciduria	OMIM:617248
Malignant Hyperthermia Of Anesthesia	Acute hepatic failure	ORPHA:423
Juvenile Dermatomyositis	Calcinosis, Myositis, Pericarditis, Telangiectasia of the skin, Elevated circulating creatine kin...	ORPHA:93672
Glycogen Storage Disease Ii	Splenomegaly, Hepatomegaly, Urinary incontinence, Cardiomegaly	OMIM:232300
Classic Phenylketonuria	Eczema, Hyperphenylalaninemia	ORPHA:79254
Chronic Beryllium Disease	Lymphocytic interstitial pneumonia, Weight loss	ORPHA:133
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Recurrent hypoglycemia	OMIM:616817
Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Sinusitis, Ureteral stenosis, Pericarditis, Elevated circula...	ORPHA:900
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Absent nipple, Aplasia of the thymus, Hydrocele testis, Hypoplastic nipples, Unconjugated hyperbi...	OMIM:620186
Peroxisome Biogenesis Disorder 4B	Hepatomegaly, Decreased liver function	OMIM:614863
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Hyperglutamatemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hyperglycinemia, Hyper...	OMIM:620358
Niemann-Pick Disease Type C	Hepatomegaly, Low cholesterol esterification rate, Jaundice, Hepatosplenomegaly, Feeding difficul...	ORPHA:646
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p...	ORPHA:3427
Congenital Disorder Of Glycosylation, Type Ig	Hypoglycemia, Hypocalcemia	OMIM:607143
Proteus-Like Syndrome	Retinal detachment, Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gland, Polyc...	ORPHA:2969
Feingold Syndrome Type 1	Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Horseshoe kidney, Vesicoureteral...	ORPHA:391641
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Ketonuria, Abnormality of the upper urinary tract, Weight loss, Renal tubular ...	ORPHA:99885
Histiocytoid Cardiomyopathy	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Optic atrophy, Renal cyst, Polycystic ovaries	ORPHA:137675
Mcdonough Syndrome	Cachexia	ORPHA:2471
Anaplastic Thyroid Carcinoma	Neoplasm of the skeletal system, Weight loss, Neoplasm of the lung, Malignant neoplasm of the cen...	ORPHA:142
Gm1 Gangliosidosis	Splenomegaly, Weight loss, Hepatosplenomegaly, Decreased beta-galactosidase activity, Failure to ...	ORPHA:354
Acute Adrenal Insufficiency	Hyponatremia, Hypoglycemia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyper...	ORPHA:95409
Pyomyositis	Recurrent cutaneous abscess formation, Renal insufficiency, Myositis, Weight loss	ORPHA:764
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Anuria, Peritonitis, Megacystis, Pyelonephritis, Fetal megacystis, Renal cortical hyperechogenicity	OMIM:619351
Exercise-Induced Malignant Hyperthermia	Hepatic failure, Vomiting, Decreased liver function, Nausea	ORPHA:466650
Hyperlipoproteinemia, Type Id	Hepatomegaly, Splenomegaly, Recurrent pancreatitis, Pancreatitis, Lipemia retinalis	OMIM:615947
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:223900
Rabson-Mendenhall Syndrome	Impaired glucose tolerance, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabe...	ORPHA:769
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Decreas...	OMIM:269700
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Uveitis, Weight loss, Enthesitis, Hepatosplen...	ORPHA:85408
Renpenning Syndrome	Hypospadias, Cachexia	ORPHA:3242
49,Xyyyy Syndrome	External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l...	ORPHA:99330
Complete Atrioventricular Septal Defect	Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ...	ORPHA:1329
Developmental And Epileptic Encephalopathy 95	Cryptorchidism, Hepatomegaly, Cardiomegaly	OMIM:618143
Elliptocytosis 2	Neonatal hyperbilirubinemia	OMIM:130600
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy	OMIM:619183
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Basilicata-Akhtar Syndrome	Neonatal hypoglycemia	OMIM:301032
Pulmonary Non-Tuberculous Mycobacterial Infection	Bronchiectasis, Weight loss	ORPHA:411703
Fructose-1,6-Bisphosphatase Deficiency	Hypoglycemia	OMIM:229700
Familial Glucocorticoid Deficiency	Hyponatremia, Recurrent urinary tract infections, Renal salt wasting, Hyperkalemia, Weight loss, ...	ORPHA:361
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Precocious puberty, Cryptorchidism, Labial...	ORPHA:96191
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency	Elevated urinary 3-hydroxybutyric acid, Ketonuria	OMIM:245050
Thymic Carcinoma	Neoplasm of the thymus, Weight loss	ORPHA:99868
Aicardi-Goutières Syndrome	Elevated hepatic transaminase, Myositis, Cutis marmorata, Chilblains, Hepatosplenomegaly, Arthrit...	ORPHA:51
Structural Heart Defects And Renal Anomalies Syndrome	Death in infancy, Elevated circulating creatinine concentration	OMIM:617478
Glucocorticoid Deficiency 1	Recurrent hypoglycemia	OMIM:202200
Immunodeficiency, Common Variable, 10	Hypoglycemia	OMIM:615577
Sjogren Syndrome	Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid arthritis	OMIM:270150
Mirage Syndrome	Hyponatremia, Hyperkalemia, Hypoglycemia	OMIM:617053
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Proteinu...	ORPHA:77261
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Neoplasm of the liver, Decreased liver function, Cirrhosis, Cholelithiasis, Hepatic...	ORPHA:77293
Fatal Familial Insomnia	Urinary retention, Weight loss	OMIM:600072
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hypoproteinemia	ORPHA:90362
Silver-Russell Syndrome Due To A Point Mutation	Hypoglycemia	ORPHA:397590
Pancreatic And Cerebellar Agenesis	Death in infancy, Hyperglycemia, Diabetes mellitus, Hypoglycemia	OMIM:609069
Cockayne Syndrome Type 3	Elevated hepatic transaminase, Hepatomegaly, Optic disc pallor, Retinal atrophy, Retinal dystroph...	ORPHA:90324
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Retinal neovascularization	OMIM:619074
Shashi-Pena Syndrome	Hypoglycemia	OMIM:617190
Alström Syndrome	Urinary incontinence, Decreased response to growth hormone stimulation test, Functional abnormali...	ORPHA:64
Christianson Syndrome	Cachexia	ORPHA:85278
Graves Disease, Susceptibility To, 1	Weight loss	OMIM:275000
Isolated Right Ventricular Hypoplasia	Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig...	ORPHA:439
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia	ORPHA:1389
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Decreased fertility in females, ...	OMIM:608594
Huntington Disease-Like 1	Weight loss	ORPHA:157941
Kikuchi-Fujimoto Disease	Elevated hepatic transaminase, Hepatomegaly, Skin rash, Elevated circulating C-reactive protein c...	ORPHA:50918
Classic Pantothenate Kinase-Associated Neurodegeneration	Aspiration pneumonia, Weight loss	ORPHA:216866
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Failure to thrive in infancy, Cachexia	OMIM:616801
Tenorio Syndrome	Hypoglycemia, Hypoinsulinemia	OMIM:616260
Familial Tumoral Calcinosis	Splenomegaly, Hepatomegaly, Nephrocalcinosis	ORPHA:53715
Silver-Russell Syndrome 1	Fasting hypoglycemia	OMIM:180860
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Renal artery aneurysm, Portal hyperten...	OMIM:615688
Sacral Agenesis With Vertebral Anomalies	Neonatal death, Unilateral renal agenesis, Persistent cloaca	OMIM:615709
Riboflavin Transporter Deficiency	Cachexia	ORPHA:97229
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly	OMIM:613320
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Bronchiectasis, Weight loss	ORPHA:79127
Kanzaki Disease	Increased urinary O-linked sialopeptides, Aminoaciduria	OMIM:609242
Isolated Complex I Deficiency	Increased serum pyruvate, Diabetes mellitus, Hypoglycemia	ORPHA:2609
Lethal Congenital Contracture Syndrome 10	Ventricular septal defect, Overriding aorta, Hypoplasia of the thymus, Cardiomegaly	OMIM:617022
African Trypanosomiasis	Hepatomegaly, Pericarditis, Renal insufficiency, Urinary incontinence, Keratitis, Splenomegaly, J...	ORPHA:3385
Intellectual Developmental Disorder, Autosomal Dominant 45	Neonatal hypoglycemia	OMIM:617600
Immunodeficiency 31C	Hepatomegaly, Osteomyelitis, Eczema, Splenomegaly, Bronchiectasis, Chronic mucocutaneous candidia...	OMIM:614162
Pulmonary Alveolar Microlithiasis	Hepatomegaly, Calcium nephrolithiasis, Cyanosis, Abnormal circulating calcium concentration, Bron...	ORPHA:60025
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ...	ORPHA:363705
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Thyroid Ectopia	Jaundice	ORPHA:95712
Beck-Fahrner Syndrome	Ventricular septal defect, Cardiomegaly	OMIM:618798
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant	Narcolepsy	OMIM:604121
Addison Disease	Hyponatremia, Hypoglycemia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyper...	ORPHA:85138
Scorpion Envenomation	Acute pancreatitis, Ketonuria, Increased circulating NT-proBNP concentration, Elevated circulatin...	ORPHA:466677
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level, Neonatal hypoglycemia	ORPHA:90791
Lafora Disease	Hepatic failure, Nasogastric tube feeding	ORPHA:501
Atelis Syndrome 2	Remnants of the hyaloid vascular system, Supravalvar pulmonary stenosis, Anemia, Vitreous hemorrh...	OMIM:620185
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Splenomegaly, Nephroblastoma, Renal hypoplasia	OMIM:612918
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant...	ORPHA:91495
Renal Nutcracker Syndrome	Proteinuria, Weight loss, Hematuria, Renal artery stenosis, Microscopic hematuria	ORPHA:71273
Tetrasomy 9P	Renal dysplasia, Absent gallbladder, Myositis, Recurrent urinary tract infections, Pericarditis, ...	ORPHA:3310
Blau Syndrome	Clear cell renal cell carcinoma, Pericarditis, Abnormal retinal vascular morphology, Splenomegaly...	ORPHA:90340
Reactive Arthritis	Recurrent urinary tract infections, Pericarditis, Osteomyelitis, Pustule, Enthesitis, Weight loss...	ORPHA:29207
Behçet Disease	Glomerulopathy, Myositis, Renal insufficiency, Acne, Increased inflammatory response, Pericarditi...	ORPHA:117
Papillorenal Syndrome	Elevated circulating creatinine concentration	OMIM:120330
Microphthalmia, Syndromic 2	Retinal detachment, Remnants of the hyaloid vascular system, Ventricular septal defect, Dextrocar...	OMIM:300166
Erdheim-Chester Disease	Renal insufficiency, Osteomyelitis, Skin rash, Dysuria, Retroperitoneal fibrosis, Weight loss, Hy...	ORPHA:35687
Neurodegeneration And Seizures Due To Copper Transport Defect	Glandular hypospadias, Cardiomegaly	OMIM:620306
Familial Thrombocytosis	Acute myeloid leukemia, Myelodysplasia, Splenomegaly, Chronic myelogenous leukemia, Weight loss	ORPHA:71493
Malignant Atrophic Papulosis	Telangiectasia of the skin, Peritonitis, Weight loss, Arteritis, Abnormality of the lower urinary...	ORPHA:679
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Dilated Cardiomyopathy With Ataxia	Elevated circulating glutaric acid concentration, Neonatal hypoglycemia	ORPHA:66634
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Skin rash, Elevated circulating C-reactive protein concentration, Perianal abs...	OMIM:301074
Nocardiosis	Pericarditis, Liver abscess, Osteomyelitis, Pneumonia, Keratitis, Lymphadenitis, Peritonitis, Thy...	ORPHA:31204
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe...	ORPHA:1457
Pancreatic Agenesis 2	Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Pancreatic aplasia	OMIM:615935
Pituitary Apoplexy	Hyponatremia, Hypoglycemia	ORPHA:95613
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Hypoglycemia	ORPHA:457279
Imerslund-Gräsbeck Syndrome	Failure to thrive, Proteinuria, Angular cheilitis, Weight loss	ORPHA:35858
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Pelizaeus-Merzbacher Disease	Abnormality of the urinary system, Failure to thrive in infancy, Cachexia	ORPHA:702
Infantile Krabbe Disease	Abnormal circulating enzyme concentration or activity, Failure to thrive, Cachexia	ORPHA:206436
Multiple Endocrine Neoplasia Type 1	Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancrea...	ORPHA:652
Loeffler Endocarditis	Pericarditis, Weight loss	ORPHA:75566
Oligomeganephronia	Elevated circulating creatinine concentration	ORPHA:2260
Pmm2-Cdg	Elevated hepatic transaminase, Pericarditis, Proteinuria, Elevated circulating growth hormone con...	ORPHA:79318
Joubert Syndrome 21	Splenomegaly, Optic atrophy, Megalopapilla, Renal cyst, Hyperechogenic kidneys, Retinopathy	OMIM:615636
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Neonatal hypoglycemia	ORPHA:457485
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Optic nerve hypoplasia, Retinal detachment, Remnants of the hyaloid vascular system, Retinal dysp...	OMIM:614643
Menkes Disease	Spontaneous hematomas, Bladder diverticulum, Osteomyelitis, Prolonged neonatal jaundice	ORPHA:565
Lead Poisoning	Decreased HDL cholesterol concentration, Small for gestational age, Skin rash, Chronic kidney dis...	ORPHA:330015
Flynn-Aird Syndrome	Cachexia	ORPHA:2047
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Hematuria, Tubulointerstitial nephritis, Proteinuria	OMIM:616901
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Hyperphosphaturia, Choroidal neovascularization, Cardiomegaly, Pericardi...	ORPHA:51608
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Goodpasture Syndrome	Renal insufficiency, Cyanosis, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuri...	OMIM:233450
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Cardiomegaly, Right atrial enlargement, Abnormality of the hepatic vasculature, Atr...	ORPHA:1677
Danon Disease	Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card...	OMIM:300257
Acromelic Frontonasal Dysostosis	Cryptorchidism, Hypopituitarism, Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:603671
Scalp-Ear-Nipple Syndrome	Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit...	ORPHA:2036
Deafness, Unilateral, With Delayed Endolymphatic Hydrops	Edema	OMIM:612097
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Abnormal cardiomyocyte morphology, Cardiomyop...	ORPHA:565612
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Ureteral duplication, Biliary atresia, Pancreatic aplasia, Aplasia/Hypoplasia of the gallbladder,...	ORPHA:2255
Testicular Agenesis	Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci...	ORPHA:325124
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Splenomegaly, Optic atrophy, Optic nerve compression, Anemia	OMIM:612301
Cardiogenic Shock	Elevated circulating creatinine concentration	ORPHA:97292
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Papilledema, Pancytopenia, Mitral valve calcification, Splenomegaly, Abnormality of the spleen, T...	ORPHA:2072
Multiple Endocrine Neoplasia, Type I	Hypoglycemia, Hypercalcemia	OMIM:131100
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Hypoglycemia	OMIM:620224
Tetrasomy 12P	Cachexia	ORPHA:884
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Renal artery stenosis, Cardiomegaly	OMIM:208000
Lymphedema-Distichiasis Syndrome	Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Recurrent skin infections, Tubul...	ORPHA:33001
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypokalemia, Hypocalcemia, Cachexia, Hypomagnesemia	OMIM:175500
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233710
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Severe failure to thrive, Cachexia	ORPHA:371364
Combined Oxidative Phosphorylation Defect Type 39	Neonatal hypoglycemia	ORPHA:565624
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Optic neuropathy, Pericardial effusion, ...	OMIM:181000
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Decreased urinary potassium, Hyperkalemia, Obes...	ORPHA:79102
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Neonatal hypoglycemia	OMIM:608624
Williams Syndrome	Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Abnormal tubulointerstitial morphology,...	ORPHA:904
Glycerol Kinase Deficiency	Hypertriglyceridemia, Hypoglycemia, Hyperglycerolemia	OMIM:307030
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Menorrhagia, Thro...	OMIM:153670
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Overweight, Abnormal circulating thyroglobulin level, Prolonged neonatal jaundice	ORPHA:226307
Autism, Susceptibility To, 3	Ketonuria	OMIM:608049
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega...	OMIM:601214
Granulomatosis With Polyangiitis	Episcleritis, Sinusitis, Keratitis, Uveitis, Weight loss, Conjunctivitis, Chronic otitis media	OMIM:608710
19Q13.11 Microdeletion Syndrome	Failure to thrive, Hypospadias, Cachexia	ORPHA:217346
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233690
Short Syndrome	Excessive wrinkled skin, Weight loss	ORPHA:3163
Carney-Stratakis Syndrome	Gastrointestinal stroma tumor, Paraganglioma, Weight loss	ORPHA:97286
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Hypoglycemia	OMIM:616007
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Pollakisuria, Right ventricular hypertrophy, Cardiomegaly	ORPHA:268
Alg12-Cdg	Hyponatremia, Recurrent hypoglycemia, Hypoalbuminemia, Hypocholesterolemia	ORPHA:79324
Cantú Syndrome	Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly	ORPHA:1517
Silver-Russell Syndrome	Insulin resistance, Recurrent hypoglycemia	ORPHA:813
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Prematurely aged appearance, Skin rash, Cachexia, Urticaria, Cutaneous photosensitivity	ORPHA:220295
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborrheic dermati...	ORPHA:83617
Cerebrotendinous Xanthomatosis	Cholelithiasis, Prematurely aged appearance, Abnormal circulating enzyme concentration or activit...	ORPHA:909
Sheehan Syndrome	Hyponatremia, Hypoglycemia	ORPHA:91355
Neuropathy, Congenital Hypomyelinating, 3	Cachexia	OMIM:618186
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Hypoglycemia	OMIM:618005
Perry Syndrome	Weight loss	OMIM:168605
8P23.1 Microdeletion Syndrome	Hypospadias, Obesity, Weight loss	ORPHA:251071
Alpha-Fetoprotein Deficiency	Decreased circulating alpha-fetoprotein concentration	OMIM:615969
3-Methylglutaconic Aciduria Type 7	Neonatal hypoglycemia	ORPHA:445038
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Abnormal thymus morphology, Cardiomegaly	ORPHA:2463
Cerebral Visual Impairment	Neonatal hypoglycemia	ORPHA:447788
X-Linked Creatine Transporter Deficiency	Abnormal circulating creatine concentration, Cachexia	ORPHA:52503
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Atrial septal defect, Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Left ventricula...	OMIM:245600
Congenital Disorder Of Glycosylation, Type Iim	Ureteropelvic junction obstruction, Vesicovaginal fistula, Neonatal hyperbilirubinemia	OMIM:300896
Oromandibular Dystonia	Weight loss	ORPHA:93958
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Retinal nonattachment, Iris coloboma, Remnants of the hyaloid vascular system, Retinal fold	OMIM:221900
Scalp-Ear-Nipple Syndrome	Renal insufficiency, Unilateral renal agenesis, Renal hypoplasia, Pyelonephritis, Cutaneous photo...	OMIM:181270
Oculodentodigital Dysplasia	Hypoglycemia	ORPHA:2710
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system	OMIM:257910
Fanconi Anemia	Recurrent urinary tract infections, Hydroureter, Hypospadias, Renal insufficiency, Myelodysplasia...	ORPHA:84
Autosomal Dominant Dopa-Responsive Dystonia	Transient hyperphenylalaninemia, Rheumatoid arthritis	ORPHA:98808
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
X-Linked Dominant Chondrodysplasia Punctata	Neonatal hypoglycemia	ORPHA:35173
Chronic Graft Versus Host Disease	Elevated hepatic transaminase, Fasciitis, Poor wound healing, Phimosis, Urinary bladder inflammat...	ORPHA:99921
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch...	OMIM:300967
Autosomal Recessive Cutis Laxa Type 1	Recurrent urinary tract infections, Recurrent pneumonia, Pyelonephritis, Urethral diverticulum, M...	ORPHA:90349
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Methylmalonic acidemia, Hypoglycemia	ORPHA:17
Holoprosencephaly	Hyponatremia, Diabetes mellitus, Hypoglycemia	ORPHA:2162
Bannayan-Riley-Ruvalcaba Syndrome	Neoplasm of the adrenal cortex, Cachexia, Visceral angiomatosis, Lymphoma, Hamartomatous polyposi...	ORPHA:109
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Elevated circulating deoxyuridine concentration, Cachexia, Weight loss, Elevated circulating thym...	OMIM:603041
Generalized Glucocorticoid Resistance Syndrome	Hypokalemia, Hypoglycemia	ORPHA:786
Truncus Arteriosus	Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo...	ORPHA:3384
Gitelman Syndrome	Neoplasm of the pancreas, Proteinuria, Urinary incontinence, Decreased urinary potassium, Hyperma...	ORPHA:358
Cockayne Syndrome	Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Neurogenic blad...	ORPHA:191
Ctcf-Related Neurodevelopmental Disorder	Failure to thrive, Small for gestational age, Phimosis, Prolonged neonatal jaundice	ORPHA:363611
3-Methylglutaconic Aciduria, Type Viib	Neonatal hypoglycemia	OMIM:616271
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Cardiomegaly, Elevated circulating alanine aminotransferase concentration, Oligosac...	ORPHA:365
Glossopharyngeal Neuralgia	Schwannoma, Neoplasm, Weight loss	ORPHA:221098
Hermansky-Pudlak Syndrome	Renal insufficiency, Squamous cell carcinoma of the skin, Basal cell carcinoma, Weight loss	ORPHA:79430
Richards-Rundle Syndrome	Ketonuria	ORPHA:1399
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyponatremia, Hyperkalemia, Abnormal circulating cholesterol concentration, Increased circulating...	ORPHA:168558
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hepatomegaly, Splenomegaly, Hydrometrocolpos, Horseshoe kidney, Atrioventricular canal defect, Va...	OMIM:617088
Poems Syndrome	Hemangioma, Lymphoproliferative disorder, Visceromegaly, Weight loss	ORPHA:2905
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Parotitis, Cardiomegaly, Microcytic anemia, Splenome...	OMIM:256040
Juvenile Amyotrophic Lateral Sclerosis	Urinary incontinence, Cachexia	ORPHA:300605
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Narcolepsy	ORPHA:314404
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyponatremia, Hyperkalemia, Abnormal circulating cholesterol concentration, Increased circulating...	ORPHA:289548
Lethal Acantholytic Erosive Disorder	Cardiomyopathy, Cardiomegaly	ORPHA:158687
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Remnants of the hyaloid vascular system	ORPHA:2714
Heart Defects, Congenital, And Other Congenital Anomalies	Ureteral duplication, Absent gallbladder, Biliary atresia, Glycosuria, Pancreatic hypoplasia	OMIM:600001
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cutaneous photosensitivity, Cachexia	ORPHA:3217
Pancreatic Triacylglycerol Lipase Deficiency	Keratoconjunctivitis sicca, Weight loss, Colitis, Exocrine pancreatic insufficiency	ORPHA:309031
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Tubulointerstitial nephritis, Enuresis, Abnormality of the kidney	ORPHA:459061
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Hypoglycemia	OMIM:614501
Camurati-Engelmann Disease	Hepatomegaly, Cachexia, Splenomegaly, Urinary retention, Slender build, Elevated circulating aldo...	ORPHA:1328
Wars2-Related Combined Oxidative Phosphorylation Defect	Neonatal hypoglycemia	ORPHA:572798
Tropical Endomyocardial Fibrosis	Hepatomegaly, Right ventricular cardiomyopathy, Eosinophilia, Left atrial enlargement, Cardiomega...	ORPHA:75565
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Homocystinuria	OMIM:601552
X-Linked Intellectual Disability, Cabezas Type	Hypoplasia of penis, Obesity, Cachexia	ORPHA:85293
Kabuki Syndrome 2	Neonatal hypoglycemia	OMIM:300867
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Retroperitoneal fibrosis, Thyroiditis, Weight loss, Tubulointerstitial nephritis, Kerat...	ORPHA:79078
Autosomal Dominant Cutis Laxa	Prematurely aged appearance, Unilateral renal agenesis, Bronchiectasis, Pyelonephritis, Bladder d...	ORPHA:90348
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Recurrent hypoglycemia, Hyperkalemia	ORPHA:293978
Oculogastrointestinal Muscular Dystrophy	Cachexia	ORPHA:1876
Schwartz-Jampel Syndrome	Cachexia, Abnormality of the ureter, Nephrolithiasis, Odontogenic neoplasm, Abnormality of the ur...	ORPHA:800
Cocaine Intoxication	Proteinuria, Elevated circulating creatine kinase concentration, Glomerulonephritis, Hematuria, T...	ORPHA:90068
Hereditary Late-Onset Parkinson Disease	Spastic/hyperactive bladder, Weight loss	ORPHA:411602
Nijmegen Breakage Syndrome	Glioma, B-cell lymphoma, Cachexia, Rhabdomyosarcoma, Lymphoma, T-cell lymphoma, Acute leukemia, P...	ORPHA:647
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Hypomagnesemia, Abnormal circulating neopterin concentration, Abnormal circulating biopterin conc...	ORPHA:1578
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Small for gestational age, Weight loss	ORPHA:424
Deeah Syndrome	Death in infancy, Death in adolescence, Neonatal hypoglycemia, Death in childhood	OMIM:619004
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear...	ORPHA:95430
Intermediate Uveitis	Anterior uveitis, Tubulointerstitial nephritis, Psoriasiform dermatitis, Optic neuritis	ORPHA:279914
Glutaryl-Coa Dehydrogenase Deficiency	Fasting hypoglycemia	ORPHA:25
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Death in infancy, Hyperglycemia, Hypoglycemia, Hyperammonemia	OMIM:220111
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hypoglycemia	OMIM:301066
Sotos Syndrome	Ureteral duplication, Renal insufficiency, Hypospadias, Hypercalcemia, Abnormality of the kidney,...	ORPHA:821
Yunis-Varon Syndrome	Ventricular septal defect, Hypospadias, Cardiomegaly, Cryptorchidism, Renovascular hypertension, ...	ORPHA:3472
Dermatomyositis	Pericarditis, Telangiectasia of the skin, Myocarditis, Erythema, Weight loss, Acrocyanosis, Arthr...	ORPHA:221
Absence Of The Pulmonary Artery	Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect...	ORPHA:980
Mucolipidosis Type Ii	Splenomegaly, Weight loss, Hepatosplenomegaly, Otitis media, Telangiectases of the cheeks	ORPHA:576
Choreoacanthocytosis	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Abnormal erythrocyte...	ORPHA:2388
Norrie Disease	Retinal detachment, Abnormal chorioretinal morphology, Remnants of the hyaloid vascular system, A...	ORPHA:649
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca...	ORPHA:99125
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Insulin resistance, Fasting hypoglycemia	ORPHA:96182
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Gerstmann-Straussler Disease	Weight loss	OMIM:137440
Rett Syndrome	Cachexia	OMIM:312750
Full Nf2-Related Schwannomatosis	Remnants of the hyaloid vascular system, Retinal hamartoma, Abnormal optic nerve morphology, Epir...	ORPHA:637
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Acne, Renal salt wasting, Long penis, Hyperkalemia, Weight loss, Hypochloremia, Ele...	ORPHA:90794
Cushing Syndrome Due To Ectopic Acth Secretion	Increased urinary cortisol level, Pancreatic adenocarcinoma, Pancreatoblastoma, Pituitary cortico...	ORPHA:99889
Renal Agenesis, Bilateral	Nonketotic hypoglycemia	ORPHA:1848
Perlman Syndrome	Hypoglycemia	OMIM:267000
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Mildly elevated creatine kinase, Weight loss	OMIM:607459
Simpson-Golabi-Behmel Syndrome	Death in infancy, Hypoglycemia	ORPHA:373
Holoprosencephaly 2	Remnants of the hyaloid vascular system, Chorioretinal coloboma, Cyclopia, Iris coloboma, Anterio...	OMIM:157170
Malt Lymphoma	Posterior uveitis, Weight loss	ORPHA:52417
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly	ORPHA:91387
Seckel Syndrome	Prematurely aged appearance, Cachexia	ORPHA:808
Familial Gestational Hyperthyroidism	Weight loss	ORPHA:99819
Trisomy 18	Cachexia, Hydronephrosis, Abnormality of the upper urinary tract	ORPHA:3380
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Narcolepsy	ORPHA:293987
Oculopharyngodistal Myopathy 1	Elevated circulating creatine kinase concentration, Weight loss	OMIM:164310
Neuroocular Syndrome	Hypoplasia of the fovea, Remnants of the hyaloid vascular system, Lens coloboma, Patent foramen o...	OMIM:619539
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Congenital Fiber-Type Disproportion Myopathy	Failure to thrive, Aspiration pneumonia, Weight loss	ORPHA:2020
Juvenile Polyposis Of Infancy	Cachexia, Hypoalbuminemia, Subcutaneous lipoma	ORPHA:79076
Costello Syndrome	Hypoglycemia	OMIM:218040
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyponatremia, Hyperkalemia, Hypoglycemia, Decreased circulating renin level	OMIM:201750
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Neonatal hypoglycemia	ORPHA:457359
Hutchinson-Gilford Progeria Syndrome	Prominent superficial blood vessels, Cyanosis, Osteoarthritis, Weight loss, Severe failure to thr...	ORPHA:740
Tsh-Secreting Pituitary Adenoma	Hypokalemia, Weight loss	ORPHA:91347
Non-Acquired Panhypopituitarism	Hypoglycemia	ORPHA:90695
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Cachexia	ORPHA:1969
Holoprosencephaly 1	Hypoglycemia	OMIM:236100
Stickler Syndrome	Cachexia, Osteoarthritis, Uveitis, Chronic otitis media, Slender build	ORPHA:828
Marfan Syndrome	Arthralgia/arthritis, Slender build, Cachexia	ORPHA:558
Combined Pituitary Hormone Deficiencies, Genetic Forms	Hypoglycemia	ORPHA:95494
Singleton-Merten Syndrome 1	Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis...	OMIM:182250

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 Fah

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Fah.

There are 4 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Prolonged activity of the transposase helper may raise safety concerns during DNA transposon-based gene therapy.	Molecular therapy. Methods & clinical development (March 2023)	Fah^{tm1(NCOM)Mfgc}	PMC10070360
A versatile transposon-based technology to generate loss- and gain-of-function phenotypes in the mouse liver.	BMC biology (April 2022)	Fah^{tm1(NCOM)Mfgc}	PMC8974095
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Fahd2a^{tm1a(EUCOMM)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Fahd2a^{tm1a(EUCOMM)Wtsi}	PMC6459510

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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
Fah^em1(IMPC)Mbp	Exon Deletion	Mice
Fah^{tm43479(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Fah^{tm1(NCOM)Mfgc}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells

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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Gene: Fah MGI:95482

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Gross Morphology Embryo E14.5-E15.5

X-ray

MicroCT E14.5-E15.5

Human diseases caused by Fah mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data