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Gene: Abcc2 MGI:1352447

Gene Summary

Name:

ATP-binding cassette, sub-family member 2

Synonyms:

Mrp2, Cmoat, multidrug resistance protein 2

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
increased circulating HDL cholesterol level	Abcc2^{tm2b(KOMP)Wtsi}	HOM	Early adult	4.80×10^-06
increased neutrophil cell number	Abcc2^{tm2b(KOMP)Wtsi}	HOM	Early adult	2.83×10^-08
increased circulating alanine transaminase level	Abcc2^{tm2b(KOMP)Wtsi}	HOM	Early adult	1.05×10^-05
decreased mean platelet volume	Abcc2^{tm2b(KOMP)Wtsi}	HOM	Early adult	8.84×10^-08
increased circulating cholesterol level	Abcc2^{tm2b(KOMP)Wtsi}	HOM	Early adult	9.63×10^-08
decreased lymphocyte cell number	Abcc2^{tm2b(KOMP)Wtsi}	HOM	Early adult	1.91×10^-06
increased kidney weight	Abcc2^{tm2b(KOMP)Wtsi}	HOM	Early adult	3.18×10^-12
increased circulating bilirubin level	Abcc2^{tm2b(KOMP)Wtsi}	HOM	Early adult	0.00
increased circulating aspartate transaminase level	Abcc2^{tm2b(KOMP)Wtsi}	HOM	Early adult	3.25×10^-06
decreased mean corpuscular volume	Abcc2^{tm2b(KOMP)Wtsi}	HOM	Early adult	9.04×10^-06

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Adrenal gland	N/A	heterozygote	0.0% (0 of 2)
Aorta	N/A	heterozygote	0.0% (0 of 2)
Bone	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	heterozygote	0.0% (0 of 2)
Brainstem	N/A	heterozygote	0.0% (0 of 2)
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	0.0% (0 of 2)
Cerebellum	N/A	heterozygote	0.0% (0 of 2)
Cerebral cortex	N/A	heterozygote	0.0% (0 of 2)
Esophagus	N/A	heterozygote	0.0% (0 of 2)
Eye	N/A	heterozygote	0.0% (0 of 2)
Gall bladder	N/A	heterozygote	100% (2 of 2)
Heart	N/A	heterozygote	0.0% (0 of 2)
Hippocampus	N/A	heterozygote	0.0% (0 of 2)
Hypothalamus	N/A	heterozygote	0.0% (0 of 2)
Kidney	N/A	heterozygote	100% (2 of 2)
Large intestine	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	heterozygote	100% (2 of 2)
Lower urinary tract	N/A	heterozygote	0.0% (0 of 2)
Lung	N/A	heterozygote	0.0% (0 of 2)
Lymph node	N/A	heterozygote	0.0% (0 of 2)
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Olfactory lobe	N/A	heterozygote	0.0% (0 of 2)
Oral epithelium	N/A	heterozygote	0.0% (0 of 2)
Ovary	N/A	heterozygote	0.0% (0 of 2)
Oviduct	N/A	heterozygote	0.0% (0 of 2)
Pancreas	N/A	heterozygote	0.0% (0 of 2)
Parathyroid gland	N/A	heterozygote	0.0% (0 of 2)
Peripheral nervous system	N/A	heterozygote	0.0% (0 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Pituitary gland	N/A	heterozygote	0.0% (0 of 2)
Prostate gland	N/A	heterozygote	0.0% (0 of 2)
Skeletal muscle	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	0.0% (0 of 2)
Small intestine	N/A	heterozygote	0.0% (0 of 2)
Spinal cord	N/A	heterozygote	0.0% (0 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Stomach	N/A	heterozygote	100% (2 of 2)
Striatum	N/A	heterozygote	0.0% (0 of 2)
Testis	N/A	heterozygote	50% (1 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	50% (1 of 2)
Trachea	N/A	heterozygote	0.0% (0 of 2)
Uterus	N/A	heterozygote	0.0% (0 of 2)
Vascular system	N/A	heterozygote	0.0% (0 of 2)
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Brain	N/A	heterozygote	0.0% (0 of 1)
Brain	N/A	homozygote	0.0% (0 of 1)
Ear	N/A	heterozygote	0.0% (0 of 1)
Ear	N/A	homozygote	0.0% (0 of 1)
Embryo	N/A	heterozygote	0.0% (0 of 1)
Embryo	N/A	homozygote	0.0% (0 of 1)
Eye	N/A	heterozygote	0.0% (0 of 1)
Eye	N/A	homozygote	0.0% (0 of 1)
Footplate	N/A	heterozygote	0.0% (0 of 1)
Footplate	N/A	homozygote	0.0% (0 of 1)
Forebrain	N/A	heterozygote	0.0% (0 of 1)
Forebrain	N/A	homozygote	0.0% (0 of 1)
Forelimb	N/A	heterozygote	0.0% (0 of 1)
Forelimb	N/A	homozygote	0.0% (0 of 1)
Handplate	N/A	heterozygote	0.0% (0 of 1)
Handplate	N/A	homozygote	0.0% (0 of 1)
Head	N/A	heterozygote	0.0% (0 of 1)
Head	N/A	homozygote	0.0% (0 of 1)
Heart	N/A	heterozygote	0.0% (0 of 1)
Heart	N/A	homozygote	0.0% (0 of 1)
Hindbrain	N/A	heterozygote	0.0% (0 of 1)
Hindbrain	N/A	homozygote	0.0% (0 of 1)
Hindlimb	N/A	heterozygote	0.0% (0 of 1)
Hindlimb	N/A	homozygote	0.0% (0 of 1)
Liver	N/A	heterozygote	0.0% (0 of 1)
Liver	N/A	homozygote	0.0% (0 of 1)
Lung	N/A	heterozygote	0.0% (0 of 1)
Lung	N/A	homozygote	0.0% (0 of 1)
Mandibular process	N/A	heterozygote	0.0% (0 of 1)
Mandibular process	N/A	homozygote	0.0% (0 of 1)
Maxillary process	N/A	heterozygote	0.0% (0 of 1)
Maxillary process	N/A	homozygote	0.0% (0 of 1)
Midbrain	N/A	heterozygote	0.0% (0 of 1)
Midbrain	N/A	homozygote	0.0% (0 of 1)
Oral cavity	N/A	heterozygote	0.0% (0 of 1)
Oral cavity	N/A	homozygote	0.0% (0 of 1)
Skin	N/A	heterozygote	0.0% (0 of 1)
Skin	N/A	homozygote	0.0% (0 of 1)
Tail somite	N/A	heterozygote	0.0% (0 of 1)
Tail somite	N/A	homozygote	0.0% (0 of 1)
Tail	N/A	heterozygote	0.0% (0 of 1)
Tail	N/A	homozygote	0.0% (0 of 1)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
bone	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
esophagus	0.0%
eye	0.0%
gall bladder	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
olfactory lobe	0.0%
oral epithelium	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
uterus	0.0%
vascular system	0.0%
white adipose tissue	0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy	Background staining in controls(WT)
brain	0.0%
ear	0.0%
embryo	0.0%
eye	0.0%
footplate	0.0%
forebrain	0.0%
forelimb	0.0%
handplate	0.0%
head	0.0%
heart	0.0%
hindbrain	0.0%
hindlimb	0.0%
liver	0.0%
lung	0.0%
mandibular process	0.0%
maxillary process	0.0%
midbrain	0.0%
oral cavity	0.0%
skin	0.0%
tail	0.0%
tail somite group	0.0%

Associated Images

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

Embryo LacZ

LacZ images wholemount

8 Images

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Adult LacZ

LacZ Images Wholemount

5 Images

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X-ray

XRay Images Whole Body Lateral Orientation

12 Images

View images

Echo

M-Mode Images

32 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

View images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

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Human diseases caused by Abcc2 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 Abcc2 (2 diseases)
Human diseases predicted to be associated with Abcc2 (985 diseases)

The table below shows human diseases associated to Abcc2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Dubin-Johnson Syndrome		Jaundice, Conjugated hyperbilirubinemia, Biliary tract abnormality	OMIM:237500
Dubin-Johnson Syndrome		Abnormal urinary color, Abnormality of the liver, Biliary tract abnormality, Hepatomegaly, Jaundi...	ORPHA:234

The table below shows human diseases predicted to be associated to Abcc2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Crigler-Najjar Syndrome, Type Ii	Reduced tissue UDP-glucuronyl-transferase activity, Unconjugated hyperbilirubinemia, Jaundice, El...	OMIM:606785
Cholestasis, Progressive Familial Intrahepatic, 11	Abnormal circulating bilirubin concentration, Elevated circulating aspartate aminotransferase con...	OMIM:619874
Dubin-Johnson Syndrome	Jaundice, Conjugated hyperbilirubinemia, Biliary tract abnormality	OMIM:237500
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbilirubinemia, S...	OMIM:620010
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Portal fibrosis, Increased total bilir...	OMIM:619868
Hypervalinemia And Hyperleucine-Isoleucinemia	Hyperisoleucinemia, Hypervalinemia, Elevated circulating alanine aminotransferase concentration, ...	OMIM:618850
Crigler-Najjar Syndrome Type 2	Prolonged neonatal jaundice, Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia	ORPHA:79235
Glycine N-Methyltransferase Deficiency	Hypermethioninemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration	OMIM:606664
Crigler-Najjar Syndrome, Type I	Unconjugated hyperbilirubinemia, Jaundice, Elevated circulating hepatic transaminase concentration	OMIM:218800
Gilbert Syndrome	Unconjugated hyperbilirubinemia, Hepatic failure, Elevated circulating hepatic transaminase conce...	OMIM:143500
Combined Low Ldl And Fibrinogen	Elevated circulating aspartate aminotransferase concentration, Decreased LDL cholesterol concentr...	OMIM:620364
Jaundice, Familial Obstructive, Of Infancy	Jaundice, Neonatal hyperbilirubinemia	OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii	Jaundice, Conjugated hyperbilirubinemia	OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal	Jaundice, Neonatal unconjugated hyperbilirubinemia	OMIM:237900
Hyperbilirubinemia, Rotor Type	Jaundice, Conjugated hyperbilirubinemia	OMIM:237450
Biliary Atresia, Extrahepatic	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Increased total bilirub...	OMIM:210500
Rotor Syndrome	Bilirubinuria, Hyperbilirubinemia, Abnormal circulating enzyme concentration or activity, Intermi...	ORPHA:3111
Glycogen Storage Disease Vi	Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Increased hepatic glycog...	OMIM:232700
Glutathione Peroxidase Deficiency	Compensated hemolytic anemia, Neonatal hyperbilirubinemia, Heinz bodies	OMIM:614164
Hypercholanemia, Familial, 2	Prolonged neonatal jaundice, Unconjugated hyperbilirubinemia, Increased serum bile acid concentra...	OMIM:619256
Congenital Disorder Of Glycosylation, Type Iip	Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ...	OMIM:616829
Hyperprolinemia Type 1	Nephropathy, Proteinuria, Prolinuria, Hyperprolinemia	ORPHA:419
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Fava bean-induced hemolytic anemia, Hyperbilirubinemia, Reduced erythrocyte glutathione reductase...	OMIM:618660
Crigler-Najjar Syndrome Type 1	Neonatal hyperbilirubinemia, Abnormality of the liver, Biliary tract abnormality, Prolonged neona...	ORPHA:79234
Citrullinemia, Type Ii, Neonatal-Onset	Elevated gamma-glutamyltransferase level, Hyperbilirubinemia, Hyperthreoninemia, Elevated circula...	OMIM:605814
Cholestasis-Lymphedema Syndrome	Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Neonatal cholestatic liv...	OMIM:214900
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta...	OMIM:616278
Bile Acid Conjugation Defect 1	Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Elevated circulat...	OMIM:619232
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Anemia of inadequate pr...	OMIM:237800
Red Cell Phospholipid Defect With Hemolysis	Hyperbilirubinemia, Splenomegaly, Intermittent jaundice	OMIM:179700
Cholesterol-Ester Transfer Protein Deficiency	Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi...	ORPHA:79506
Malaria	Acute kidney injury, Hyperbilirubinemia, Anemia, Thrombocytopenia, Elevated circulating C-reactiv...	ORPHA:673
Edinburgh Malformation Syndrome	Jaundice, Neonatal hyperbilirubinemia	OMIM:129850
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Hepatic fibrosis, Cholestasi...	OMIM:619662
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormal urine carbohydrate level, Abnormal circ...	ORPHA:2843
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati...	OMIM:616828
Congenital Bile Acid Synthesis Defect Type 3	Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa...	ORPHA:79302
Hypertriglyceridemia 2	Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:619324
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease	Cholestatic liver disease, Nephropathy, Chronic kidney disease, Elevated circulating hepatic tran...	OMIM:602114
Cholestasis, Benign Recurrent Intrahepatic, 2	Intrahepatic cholestasis, Cholelithiasis, Elevated circulating alkaline phosphatase concentration...	OMIM:605479
Hepatic Veno-Occlusive Disease	Elevated circulating hepatic transaminase concentration, Increased total bilirubin, Ascites, Rena...	ORPHA:890
Lipoprotein Glomerulopathy	Proteinuria, Glomerulopathy, Renal insufficiency, Mesangial hypercellularity	OMIM:611771
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu...	ORPHA:766
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:235555
Cholestasis, Benign Recurrent Intrahepatic, 1	Intermittent jaundice, Increased serum bile acid concentration, Pancreatitis, Intrahepatic choles...	OMIM:243300
Harderoporphyria	Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Increased urinary porp...	OMIM:618892
Methylmalonic Aciduria, Transient, Due To Transcobalamin Receptor Defect	Hyperhomocystinemia, Methylmalonic aciduria, Methylmalonic acidemia	OMIM:613646
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra...	OMIM:616860
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Megaloblastic Anemia, Folate-Responsive	Hypersegmentation of neutrophil nuclei, Increased circulating ferritin concentration, Folate-resp...	OMIM:601775
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,...	OMIM:618528
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Hyperbili...	OMIM:616689
Cholestasis, Progressive Familial Intrahepatic, 6	Intrahepatic cholestasis, Periportal fibrosis, Elevated circulating hepatic transaminase concentr...	OMIM:619484
Renal Failure, Progressive, With Hypertension	Nephritis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal i...	OMIM:161900
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circula...	OMIM:613812
Nephrotic Syndrome, Type 15	Hypoalbuminemia, Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Stage 5...	OMIM:617609
Sitosterolemia 2	Hypercholesterolemia, Elevated circulating sitosterol concentration	OMIM:618666
Nephrotic Syndrome, Type 7	Hypoalbuminemia, Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kid...	OMIM:615008
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I...	ORPHA:79303
Charcot-Marie-Tooth Disease, X-Linked Recessive, 4, With Or Without Cerebellar Ataxia	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	OMIM:310490
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Cholecystitis, Splenomegaly, Reticulocytos...	OMIM:235700
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:607765
Glycogen Storage Disease Ixa1	Elevated circulating hepatic transaminase concentration, Splenomegaly, Hyperuricemia, Hypercholes...	OMIM:306000
Preeclampsia/Eclampsia 1	Proteinuria, Elevated circulating hepatic transaminase concentration, Thrombocytopenia	OMIM:189800
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ...	OMIM:301083
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropen...	OMIM:615285
Glycogen Storage Disease Vii	Cholelithiasis, Increased circulating lactate dehydrogenase concentration, Increased total biliru...	OMIM:232800
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circulating gamma-aminobutyric acid concent...	OMIM:619658
Cholesteryl Ester Storage Disease	Hepatic failure, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegal...	ORPHA:75234
Nephrotic Syndrome, Type 16	Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria	OMIM:617783
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam...	ORPHA:69663
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Polycystic liver disease, Elevated circulating alkaline phosphatase concentration, Increased tota...	OMIM:174050
Anemia, Congenital Dyserythropoietic, Type Iv	Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubinemia, Anemia of inadequate product...	OMIM:613673
Nephrotic Syndrome, Type 18	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan...	OMIM:618177
Nephrotic Syndrome, Type 19	Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 3 ch...	OMIM:618178
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan...	OMIM:301028
Bile Acid Synthesis Defect, Congenital, 4	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:214950
Amyloidosis, Hereditary Systemic 2	Nephropathy, Renal amyloidosis, Cholestasis, Splenomegaly, Proteinuria, Hematuria, Hepatomegaly, ...	OMIM:105200
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease	OMIM:616032
Glomerulopathy With Fibronectin Deposits 2	Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis...	OMIM:601894
Nephrotic Syndrome, Type 2	Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Hyperlipidem...	OMIM:600995
Hyperbiliverdinemia	Cholestasis, Cholelithiasis, Decreased liver function, Elevated circulating biliverdin concentration	OMIM:614156
Hematuria, Benign Familial, 2	Proteinuria, Abnormal glomerular basement membrane morphology, Microscopic hematuria	OMIM:620320
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Unconjugated hyperbilirubinemia, Reduced red cell pyruvate kinase level, Erythroi...	OMIM:266200
Focal Segmental Glomerulosclerosis 6	Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Proteinuria,...	OMIM:614131
Proteinuria, Chronic Benign	Proteinuria, Albuminuria, Renal insufficiency	OMIM:618884
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Reduced natural killer cell count, Hemophagocytosis, Increased circulating ferritin concentration...	ORPHA:158057
Cholestasis, Intrahepatic, Of Pregnancy, 1	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Increased seru...	OMIM:147480
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
Galactosemia I	Increased level of galactitol in red blood cells, Aminoaciduria, Galactosuria, Decreased liver fu...	OMIM:230400
Interstitial Nephritis, Karyomegalic	Elevated circulating hepatic transaminase concentration, Nephronophthisis, Glycosuria, Renal tubu...	OMIM:614817
Protoporphyria, Erythropoietic, X-Linked	Cholelithiasis, Elevated circulating hepatic transaminase concentration, Increased erythrocyte pr...	OMIM:300752
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease	OMIM:614199
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Elevated gamma-glutamyltransferase level, Increased urinary glycerol, Cholestasis, Hepatosplenome...	ORPHA:247598
Glomerulopathy With Fibronectin Deposits 1	Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency...	OMIM:137950
Atypical Hemolytic Uremic Syndrome	Acute kidney injury, Microangiopathic hemolytic anemia, Abnormal circulating lactate dehydrogenas...	ORPHA:2134
Anemia, Congenital Dyserythropoietic, Type Ia	Increased circulating lactate dehydrogenase concentration, Macrocytic dyserythropoietic anemia, E...	OMIM:224120
Dubin-Johnson Syndrome	Abnormal urinary color, Abnormality of the liver, Biliary tract abnormality, Hepatomegaly, Jaundi...	ORPHA:234
Glycogen Storage Disease Xii	Normocytic anemia, Cholelithiasis, Increased circulating lactate dehydrogenase concentration, Hyp...	OMIM:611881
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Renal insufficiency, Proteinuria, Decreased lecithin cho...	OMIM:245900
Spherocytosis, Type 4	Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia	OMIM:612653
Gallbladder Disease 1	Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal...	OMIM:600803
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Unconjugated hyperbilirubinemia, Leukocytosis, Splenomegaly, Reticulocytosis, Anisocytosis, Heinz...	OMIM:300908
Nephrotic Syndrome, Type 17	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:618176
Focal Segmental Glomerulosclerosis 7	Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria...	OMIM:616002
Spherocytosis, Type 2	Hyperbilirubinemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia	OMIM:616649
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemoglobin, Splenomegaly, Erythroc...	OMIM:603902
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hepatic steatos...	OMIM:615703
Isolated Polycystic Liver Disease	Increased total bilirubin, Multiple renal cysts, Hepatomegaly, Polycystic liver disease, Abnormal...	ORPHA:2924
Storage Pool Platelet Disease	Decreased mean platelet volume, Acute leukemia	OMIM:185050
Sitosterolemia 1	Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Xanthelasma, Reticulocytosis, Reduc...	OMIM:210250
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hyperbilirubinemia, Reticulocytosis, Reduced circulating pyrimidine 5-prime-nucleotidase activity...	OMIM:266120
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transami...	OMIM:614480
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Cholestatic liver disease, Giant cell hepatitis, Nephropathy, Elevated circulating hepatic transa...	OMIM:613404
Intrinsic Factor Deficiency	Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio...	OMIM:261000
Dehydrated Hereditary Stomatocytosis	Neonatal hyperbilirubinemia, Anemia of inadequate production, Increased circulating hemoglobin co...	ORPHA:3202
Rh-Null, Amorph Type	Stomatocytosis, Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Hemolytic anemia	OMIM:617970
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Hyperbilirubinemia, Splenomegaly	OMIM:182900
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume	ORPHA:494444
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ...	OMIM:187800
Hypermethioninemia Due To Adenosine Kinase Deficiency	Hypermethioninemia, Portal fibrosis, Elevated circulating S-adenosyl-L-homocysteine concentration...	OMIM:614300
Nephrotic Syndrome, Type 9	Focal segmental glomerulosclerosis, Hypoalbuminemia, Steroid-resistant nephrotic syndrome, Stage ...	OMIM:615573
Iga Nephropathy, Susceptibility To, 3	IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Mesangial hypercellularity, Pro...	OMIM:616818
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Splenomegaly, Elevated circulating alkaline phosphatase concentration, ...	OMIM:601847
Parenteral Nutrition-Associated Cholestasis	Elevated gamma-glutamyltransferase level, Cholelithiasis, Hepatic fibrosis, Hepatic failure, Elev...	ORPHA:567983
Focal Segmental Glomerulosclerosis 10	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:256020
Lipoyltransferase 1 Deficiency	Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased tota...	OMIM:616299
Fanconi-Bickel Syndrome	Hypouricemia, Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Generalized ami...	OMIM:227810
Nephrotic Syndrome, Type 23	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti...	OMIM:619201
Senior-Boichis Syndrome	Chronic kidney disease, Abnormal urinary electrolyte concentration, Cholestasis, Hepatosplenomega...	ORPHA:84081
Liver Failure, Infantile, Transient	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Dicarboxylic aciduria, ...	OMIM:613070
Dent Disease 2	Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Increased circulat...	OMIM:300555
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Acute hepatic failure, Incre...	OMIM:278000
Nail-Patella-Like Renal Disease	Proteinuria, Glomerulopathy, Renal insufficiency, Microscopic hematuria	ORPHA:2613
Thrombocytopenia 3	Decreased mean platelet volume, Thrombocytopenia	OMIM:273900
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Thrombocy...	OMIM:155100
Iga Nephropathy, Susceptibility To, 2	Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria	OMIM:613944
Hypercholesterolemia, Familial, 4	Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:603813
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Hyperlipidemia, Familial Combined, 3	Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ...	OMIM:144250
Focal Segmental Glomerulosclerosis 2	Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote...	OMIM:603965
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Elevated circulating C-reactive protein concentration, Lymphocytosis, Thrombocytopenia, Decreased...	OMIM:617718
Immunodeficiency, Common Variable, 6	Abnormal T cell count, Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Abnor...	OMIM:613496
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos...	OMIM:308990
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia	OMIM:608320
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia, Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Ren...	ORPHA:54370
Bleeding Disorder, Platelet-Type, 24	Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri...	OMIM:619271
Galactose Mutarotase Deficiency	Decreased liver function, Cholestasis, Abnormal circulating enzyme concentration or activity, Hep...	ORPHA:570422
Gracile Syndrome	Cholestasis, Increased circulating iron concentration, Increased serum pyruvate, Increased circul...	OMIM:603358
Cholestasis, Progressive Familial Intrahepatic, 5	Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Hyperammonemia, C...	OMIM:617049
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto...	OMIM:185000
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
Congenital Dyserythropoietic Anemia Type Iii	Increased circulating iron concentration, Increased mean corpuscular volume, Increased total iron...	ORPHA:98870
Focal Segmental Glomerulosclerosis 5	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Microscopic hema...	OMIM:613237
Cholestasis, Intrahepatic, Of Pregnancy 3	Abnormal liver function tests during pregnancy, Increased serum bile acid concentration during pr...	OMIM:614972
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Focal segmental glomerulosclerosis, Proteinuria, Hematuria, Renal insufficiency	OMIM:607832
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia, Hepatomegaly, Jaundice	OMIM:613977
Thrombocytopenia 10	Decreased mean platelet volume, Thrombocytopenia	OMIM:620484
Bleeding Disorder, Platelet-Type, 15	Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm...	OMIM:615193
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Hyperbilirubinemia, Renal insufficiency, Reticulocytosis, Myoglobinuria, Hemolytic anemia, Decrea...	ORPHA:713
Elliptocytosis 2	Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis, Elliptocytosis	OMIM:130600
Myh9-Related Disease	Nephropathy, Nephritis, Giant platelets, Renal insufficiency, Proteinuria, Congenital thrombocyto...	ORPHA:182050
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn...	OMIM:613092
Rh-Null, Regulator Type	Unconjugated hyperbilirubinemia, Jaundice	OMIM:268150
Relapsing Fever	Acute kidney injury, Abnormality of the urinary system, Increased total bilirubin, Elevated circu...	ORPHA:91547
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration	ORPHA:231249
Polycystic Kidney Disease 5	Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico...	OMIM:617610
Hepatoportal Sclerosis	Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circula...	ORPHA:64743
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia	OMIM:618310
Immunodeficiency 53	Recurrent urinary tract infections, Impaired lymphocyte transformation with phytohemagglutinin, N...	OMIM:617585
Focal Segmental Glomerulosclerosis 1	Focal segmental glomerulosclerosis, Hypoalbuminemia, Hyperechogenic kidneys, Ascites, Stage 5 chr...	OMIM:603278
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia	OMIM:615863
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Hepatic...	ORPHA:209902
Apolipoprotein C-Ii Deficiency	Increased circulating chylomicron concentration, Splenomegaly, Hypercholesterolemia, Decreased ci...	OMIM:207750
Lipodystrophy, Partial, Acquired, Susceptibility To	Abnormal circulating lipid concentration, Hepatic steatosis, Proteinuria, Hematuria, Membranoprol...	OMIM:608709
Galactosemia Iii	Aminoaciduria, Galactosuria, Splenomegaly, Decreased beta-galactosidase activity, Hepatomegaly, J...	OMIM:230350
Caroli Disease	Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Cholelithiasis, Hepatic fibro...	ORPHA:53035
Cholestasis, Progressive Familial Intrahepatic, 1	Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom...	OMIM:211600
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hyper...	ORPHA:369
Lipodystrophy, Congenital Generalized, Type 3	Hepatosplenomegaly, Hypocalcemia, Hepatic steatosis, Splenomegaly, Hypercholesterolemia, Hypertri...	OMIM:612526
Congenital Nephrotic Syndrome, Finnish Type	Proteinuria, Nephrotic syndrome, Elevated amniotic fluid alpha-fetoprotein, Abnormal renal tubule...	ORPHA:839
Heme Oxygenase 1 Deficiency	Nephritis, Increased circulating lactate dehydrogenase concentration, Increased circulating ferri...	OMIM:614034
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic ...	OMIM:602347
Alport Syndrome 3B, Autosomal Recessive	Thin glomerular basement membrane, Stage 5 chronic kidney disease, Renal insufficiency, Proteinur...	OMIM:620536
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c...	OMIM:617156
Nephronophthisis 13	Renal hypoplasia, Nephronophthisis, Intrahepatic bile duct dilatation, Stage 5 chronic kidney dis...	OMIM:614377
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Intrahepatic cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbil...	OMIM:619685
Caroli Syndrome	Hypersplenism, Hyperbilirubinemia, Elevated circulating alkaline phosphatase concentration, Conge...	ORPHA:480520
Intrahepatic Cholestasis Of Pregnancy	Elevated circulating hepatic transaminase concentration, Hyperbilirubinemia, Cholecystitis, Eleva...	ORPHA:69665
Wolcott-Rallison Syndrome	Hypoalbuminemia, Chronic kidney disease, Elevated circulating hepatic transaminase concentration,...	ORPHA:1667
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Hepatitis, Increased mean corpuscular hemoglobin concentration, Increased circula...	OMIM:194380
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Hyperechogenic kidn...	OMIM:616217
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia	OMIM:301033
Wiskott-Aldrich Syndrome	Decreased mean platelet volume, Nephropathy, Decreased proportion of CD8-positive T cells, Lympho...	OMIM:301000
Thrombocytopenia 1	Decreased mean platelet volume, Congenital thrombocytopenia, Intermittent thrombocytopenia	OMIM:313900
Fibronectin Glomerulopathy	Hypoalbuminemia, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Glom...	ORPHA:84090
Isolated Biliary Atresia	Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans...	ORPHA:30391
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Giant cell hepatitis, Elevat...	OMIM:208085
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro...	OMIM:619041
Distal Myopathy, Tateyama Type	Abnormal circulating creatine kinase concentration, Hypercholesterolemia	ORPHA:488650
Nephrotic Syndrome, Type 3	Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Proteinuria,...	OMIM:610725
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, E...	OMIM:251880
Thrombotic Thrombocytopenic Purpura	Acute kidney injury, Microangiopathic hemolytic anemia, Abnormal circulating lactate dehydrogenas...	ORPHA:54057
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Nephrotic Syndrome, Type 6	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Hypoalbuminemia, Stage 5 c...	OMIM:614196
Congenital Disorder Of Glycosylation, Type Iiaa	Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ...	OMIM:620454
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hemophagocytosis, Hepatosplenomegaly, Hypertriglyceridemia, Anemia, Granulocytopenia	OMIM:608898
Thrombocytopenia 2	Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia	OMIM:188000
Mirizzi Syndrome	Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hyperbilirubinemia, Elev...	ORPHA:521219
Hypermanganesemia With Dystonia 1	Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased tota...	OMIM:613280
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ...	OMIM:267700
Rh Deficiency Syndrome	Stomatocytosis, Hepatosplenomegaly, Hyperbilirubinemia, Reticulocytosis, Reduced haptoglobin leve...	ORPHA:71275
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Hypoalbuminemia, Hypermethioninemia, Increased circulating creatine kinase MM isoform, Elevated c...	OMIM:613752
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic...	ORPHA:562639
Hereditary Elliptocytosis	Cholelithiasis, Stomatocytosis, Neonatal hyperbilirubinemia, Abnormal erythrocyte morphology, Ell...	ORPHA:288
Hemochromatosis, Neonatal	Hepatic fibrosis, Increased circulating iron concentration, Hepatic failure, Increased circulatin...	OMIM:231100
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Hepatic steatosis, Elevated circulating hepatic transaminase concentration, Mildly elevated creat...	OMIM:618400
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Elevated circulating hepatic transaminase concentration, Elevated circulating sebacic acid concen...	OMIM:615160
Infantile Sialic Acid Storage Disease	Nephrotic syndrome, Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, Co...	OMIM:269920
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612925
Citrullinemia, Type Ii, Adult-Onset	Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Portal inflammation, Ballooning hepat...	OMIM:603471
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Alaninuria, Elevated...	OMIM:615158
Glutamate Formiminotransferase Deficiency	Aminoaciduria, Hypersegmentation of neutrophil nuclei, Positive ferric chloride test, Megaloblast...	OMIM:229100
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Hepatic fibr...	OMIM:617093
Iga Nephropathy, Susceptibility To, 1	Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria	OMIM:161950
Cystic Echinococcosis	Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Peritoneal abscess, Elevated...	ORPHA:400
Fetal Cytomegalovirus Syndrome	Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Anemia, Thrombo...	ORPHA:294
Bleeding Disorder, Platelet-Type, 25	Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll...	OMIM:620486
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly, Neutr...	OMIM:603552
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Minimal change glomerulonephritis, Podocyte foot process effacement, Proteinuria, Impaired lympho...	OMIM:617006
Myoglobinuria, Autosomal Dominant	Acute kidney injury, Myoglobinuria, Elevated circulating creatine kinase concentration	OMIM:160010
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Diarrhea 13	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatic steatosis	OMIM:620357
Analbuminemia	Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat...	OMIM:616000
Idiopathic Non-Lupus Full-House Nephropathy	Acute kidney injury, Elevated circulating creatinine concentration, Abnormal glomerular mesangium...	ORPHA:567544
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612926
Immunodeficiency 50	Lymphopenia, Neutropenia, Recurrent urinary tract infections	OMIM:300988
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Tyrosinemia Type 1	Generalized aminoaciduria, Acute hepatic failure, Splenomegaly, Hepatomegaly, Hepatocellular carc...	ORPHA:882
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,...	OMIM:310468
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Acute kid...	ORPHA:567548
Hypouricemia, Renal, 1	Hypouricemia, Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Elevated circulati...	OMIM:220150
Peroxisome Biogenesis Disorder 13A (Zellweger)	Intrahepatic cholestasis, Increased circulating very long-chain fatty acid concentration, Dicarbo...	OMIM:614887
Spastic Paraplegia-Nephritis-Deafness Syndrome	Nephropathy, Proteinuria	ORPHA:2820
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Abnormal urinary color, Splenomegaly, Increased total bilirubin	ORPHA:90037
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Prolonged neonatal jaundice, Abnormal circulating thyroglobulin concentration, Conjugated hyperbi...	ORPHA:95715
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Hypercholesterolemia	ORPHA:94124
Adenine Phosphoribosyltransferase Deficiency	Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract...	ORPHA:976
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration...	ORPHA:822
Immunodeficiency 24	Lymphopenia, Decreased proportion of memory B cells, Reduced proportion of mucosal-associated inv...	OMIM:615897
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Cholestasis, Decreased circulating cortisol level, Hyperbilirubinemia	OMIM:609734
Aa Amyloidosis	Chronic kidney disease, Nephropathy, Acute kidney injury, Renal amyloidosis, Cholestasis, Protein...	ORPHA:85445
Hyperinsulinemic Hypoglycemia, Familial, 8	Increased C-peptide level, Hypercholesterolemia, Hyperammonemia	OMIM:620211
Hepatorenocardiac Degenerative Fibrosis	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hyperechogeni...	OMIM:619902
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Thrombocytopenia 5	Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,...	OMIM:616216
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Hypercholesterolemia	OMIM:607250
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Elevated circulating cre...	OMIM:617056
Nephrotic Syndrome, Type 11	Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, IgA depos...	OMIM:616730
Lcat Deficiency	Acute kidney injury, Decreased HDL cholesterol concentration, Decreased glomerular filtration rat...	ORPHA:650
Thrombotic Thrombocytopenic Purpura, Hereditary	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Reticulocytosis...	OMIM:274150
Slc35A1-Cdg	Thrombocytopenia, Neutropenia, Giant platelets, Abnormal platelet granules	ORPHA:238459
Acquired Partial Lipodystrophy	Hepatic steatosis, Proteinuria, Glomerulopathy, Lymphocytosis, Microscopic hematuria	ORPHA:79087
Nephrotic Syndrome, Type 22	Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Podocyte foot process eff...	OMIM:619155
Mitchell-Riley Syndrome	Annular pancreas, Pancreatic hypoplasia, Cholestasis, Hyperbilirubinemia, Absent gallbladder, Bil...	OMIM:615710
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Hepatic failure, Portal fibr...	OMIM:617394
Lathosterolosis	Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Hepatic fibrosis, Elevated ci...	OMIM:607330
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin	ORPHA:231393
Sickle Cell Anemia	Splenic infarction, Cholelithiasis, Pigment gallstones, Increased circulating lactate dehydrogena...	ORPHA:232
Cog4-Cdg	Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Elevated circulating...	ORPHA:263501
Preeclampsia	Chronic kidney disease, Abnormality of the hepatic vasculature, Elevated circulating hepatic tran...	ORPHA:275555
Pearson Marrow-Pancreas Syndrome	3-Methylglutaric aciduria, Hypoplastic anemia, Hepatic failure, Elevated circulating hepatic tran...	OMIM:557000
Hemoglobin-Delta locus	Anemia, Imbalanced hemoglobin synthesis	OMIM:142000
Hemochromatosis, Type 2B	Hepatic fibrosis, Increased circulating iron concentration, Elevated circulating hepatic transami...	OMIM:613313
Mu-Heavy Chain Disease	Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Anemia, Hepatomegaly	ORPHA:100024
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Micropenis, Neonatal hyperbilirubinemia	ORPHA:3363
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Aminoaciduria, Nephrocalcinosis, Elevated circulating hepatic transaminase concentr...	OMIM:616026
Hepatic Lipase Deficiency	Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia	OMIM:614025
Amegakaryocytic Thrombocytopenia, Congenital, 2	Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-...	OMIM:620481
Wilson Disease	Hypouricemia, Acute hepatic failure, Hyperbilirubinemia, Hepatic steatosis, Cirrhosis, Elevated c...	OMIM:277900
Idiopathic Congenital Hypothyroidism	Prolonged neonatal jaundice, Neonatal hyperbilirubinemia	ORPHA:95717
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231242
Fructose Intolerance, Hereditary	Elevated circulating hepatic transaminase concentration, Proximal tubulopathy, Glycosuria, Transi...	OMIM:229600
Beta-Thalassemia	Cholelithiasis, Hepatitis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Anemia, Thromboc...	ORPHA:848
Hyperlipoproteinemia, Type I	Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid...	OMIM:238600
Paroxysmal Nocturnal Hemoglobinuria	Chronic kidney disease, Pancytopenia, Reduced haptoglobin level, Hemosiderinuria, Unconjugated hy...	ORPHA:447
Bernard-Soulier Syndrome	Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Thrombo...	OMIM:231200
Nephronophthisis 2	Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ...	OMIM:602088
Familial Pseudohyperkalemia	Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy...	ORPHA:90044
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Renal insufficiency, Proteinuria, Glomerulopathy, Anemia, Hypercalcemia	ORPHA:2668
Congenital Disorder Of Glycosylation, Type Iir	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ...	OMIM:301045
Bile Acid Malabsorption, Primary, 2	Elevated gamma-glutamyltransferase level, Periportal fibrosis, Decreased circulating chenodeoxych...	OMIM:619481
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated circulating acylcarnitine concentration, Hepatic failure, Elevated circulating hepatic t...	ORPHA:228305
Nephronophthisis 3	Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinu...	OMIM:604387
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Hemophagocytosis, Increased total bilirubin, Increased circulating ferritin conc...	OMIM:603553
Alpha-1-Antitrypsin Deficiency	Reduced circulating alpha-1-antitrypsin concentration, Elevated circulating hepatic transaminase ...	OMIM:613490
Coenzyme Q10 Deficiency, Primary, 6	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:614650
Autoinflammatory-Pancytopenia Syndrome	Cholestatic liver disease, Hepatic fibrosis, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, ...	OMIM:619858
Hemochromatosis, Type 3	Increased circulating iron concentration, Increased circulating ferritin concentration, Lymphopen...	OMIM:604250
Glycogen Storage Disease Xi	Myoglobinuria, Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinas...	OMIM:612933
Myoglobinuria, Recurrent	Exercise-induced myoglobinuria, Recurrent myoglobinuria	OMIM:550500
Autoimmune Hepatitis	Elevated circulating hepatic transaminase concentration, Viral hepatitis, Increased total bilirub...	ORPHA:2137
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Glomerulonephritis, Autoimmune hemolytic anemia, Plasmacytosis	OMIM:247800
Cryoglobulinemia, Familial Mixed	Chronic kidney disease, Elevated circulating creatinine concentration, Proteinuria, Hematuria, Ab...	OMIM:123550
Bleeding Disorder, Platelet-Type, 21	Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impa...	OMIM:617443
Diamond-Blackfan Anemia 8	Neutropenia, Increased mean corpuscular volume, Macrocytic anemia	OMIM:612563
Citrullinemia Type Ii	Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decre...	ORPHA:247585
C3 Glomerulopathy	Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Elevated...	ORPHA:329918
Primary Biliary Cholangitis	Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Hepatic fibrosis, Hepatic failure, Bil...	ORPHA:186
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Elevated circulating acylcarnitine concentration, Red-brown urine, Stage 5 chronic kidney disease...	ORPHA:228302
Galactokinase Deficiency	Hepatosplenomegaly, Abnormal circulating enzyme concentration or activity, Hypercholesterolemia, ...	ORPHA:79237
Mixed-Type Autoimmune Hemolytic Anemia	Abnormal urinary color, Autoimmune hemolytic anemia, Increased total bilirubin	ORPHA:90036
Glycogen Storage Disease X	Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration	OMIM:261670
Immunodeficiency 32B	Hypoalbuminemia, Impaired oxidative burst, Splenomegaly, Hepatomegaly, Eosinophilia, Monocytopeni...	OMIM:226990
Galloway-Mowat Syndrome 8	Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Hematuria, P...	OMIM:618349
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Lipid accumulation in hepatocytes, Elevated circulating alanine aminotransferase concentration, H...	OMIM:608836
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Decreased glucosephosphate isom...	OMIM:613470
Congenital Bile Acid Synthesis Defect Type 1	Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple...	ORPHA:79301
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocal...	OMIM:611555
Beta-Thalassemia Intermedia	Abnormality of iron homeostasis, Cholelithiasis, Proximal tubulopathy, Decreased liver function, ...	ORPHA:231222
Progressive Familial Intrahepatic Cholestasis	Cholestasis, Hypocalcemia, Splenomegaly, Hepatomegaly, Jaundice	ORPHA:172
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i...	OMIM:617780
Peroxisome Biogenesis Disorder 12A (Zellweger)	Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hepatic failure, Hyperbi...	OMIM:614886
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia, Hypocalcemia	DECIPHER:16
Coenzyme Q10 Deficiency, Primary, 3	Proteinuria, Nephrotic syndrome, Hypoalbuminemia	OMIM:614652
Glycogen Storage Disease Iii	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Elevat...	OMIM:232400
Fanconi Renotubular Syndrome 3	Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creatinine conc...	OMIM:615605
Hereditary Renal Hypouricemia	Chronic kidney disease, Hypouricemia, Acute kidney injury, Decreased glomerular filtration rate, ...	ORPHA:94088
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic a...	OMIM:617021
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Proteinuria, Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis	OMIM:613913
Reynolds Syndrome	Elevated circulating hepatic transaminase concentration, Biliary cirrhosis, Cholestasis, Hyperbil...	OMIM:613471
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Proteinuria, Macronodular cirrhosis, Mucopolysacchariduria, Abnormal T cell morphology, Nephrotic...	OMIM:215250
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Hyperechogenic kidneys, Elevated circulating creatinine concentration, Lymphopenia, Leukopenia, R...	OMIM:301110
Alagille Syndrome 2	Cholestatic liver disease, Renal hypoplasia, Cholestasis, Renal insufficiency, Renal tubular acid...	OMIM:610205
Bone Marrow Failure Syndrome 6	Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia	OMIM:618849
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Homocystinuria, Increased mean corpuscular volume, Methylmalonic aciduria, Hypomethioninemia, Meg...	OMIM:277410
Lysinuric Protein Intolerance	Hemophagocytosis, Increased LDL cholesterol concentration, Hepatosplenomegaly, Hyperglycinemia, G...	ORPHA:470
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate...	OMIM:153670
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:264580
Hypercholesterolemia, Familial, 3	Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration	OMIM:603776
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ...	OMIM:202700
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor...	OMIM:617514
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Acute kidney injury, Increased circulating lactate dehydrogenase concentration, Elevated circulat...	OMIM:268200
Sea-Blue Histiocyte Disease	Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega...	OMIM:269600
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Hemolytic an...	ORPHA:444463
Specific Granule Deficiency 1	Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,...	OMIM:245480
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Hydronephrosis, Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Fanconi Renotubular Syndrome 1	Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur...	OMIM:134600
Xanthinuria, Type Ii	Hypouricemia, Increased circulating hypoxanthine concentration, Increased urinary hypoxanthine le...	OMIM:603592
Pelger-Huet Anomaly	Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Neutropenia, Abnormalit...	OMIM:169400
Autosomal Dominant Spastic Paraplegia Type 29	Hyperbilirubinemia, Abnormality of the lower urinary tract	ORPHA:101009
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom...	OMIM:619802
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia	OMIM:620534
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Myoglobinuria, Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinas...	ORPHA:2364
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Neutropenia, Elevated circulating alpha-fetoprotein concentration	OMIM:617243
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	OMIM:600649
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Propionic Acidemia	Hepatomegaly, Organic aciduria, Propionyl-CoA carboxylase deficiency, Hyperammonemia	ORPHA:35
Hereditary Amyloidosis With Primary Renal Involvement	Nephropathy, Abnormal urinary electrolyte concentration, Decreased liver function, Elevated circu...	ORPHA:85450
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Hyperbilirubinemia, Cirrhosi...	OMIM:301068
Autosomal Dominant Polycystic Kidney Disease	Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec...	ORPHA:730
Nephronophthisis 18	Thickened glomerular basement membrane, Portal fibrosis, Nephronophthisis, Cholestasis, Stage 5 c...	OMIM:615862
Transcobalamin Deficiency	Acute kidney injury, Methylmalonic aciduria, Lymphopenia, Pancytopenia, Thrombocytopenia, Neutrop...	ORPHA:859
Glycogen Storage Disease Ixc	Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen...	OMIM:613027
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro...	ORPHA:75564
Nephrotic Syndrome, Type 8	Hypoalbuminemia, Chronic kidney disease, Thin glomerular basement membrane, Stage 5 chronic kidne...	OMIM:615244
Erythroleukemia, Familial, Susceptibility To	Leukemia, Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, ...	OMIM:133180
Gaisböck Syndrome	Increased red blood cell count, Nephrocalcinosis, Increased mean corpuscular hemoglobin concentra...	ORPHA:90041
Congenital Megacalycosis	Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R...	ORPHA:93109
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Chronic kidney disease, Hypomagnesemia, Hyperechogenic kidneys, Pancytopenia, Leukopenia, Hyperur...	OMIM:613845
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate production, Anisocytos...	OMIM:615631
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Genetic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Minimal change glomerulonephritis, Chronic kidney disease, Focal segmental glome...	ORPHA:656
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of...	OMIM:610629
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome...	ORPHA:846
Mucopolysaccharidosis-Plus Syndrome	Hypoalbuminemia, Focal segmental glomerulosclerosis, Nephritis, Leukopenia, Splenomegaly, Protein...	OMIM:617303
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Elevated circulating hepatic transaminase concentration, Elevated circulating creatine kinase con...	OMIM:612937
Immunodeficiency 114, Folate-Responsive	Increased circulating ferritin concentration, Lymphopenia, Splenomegaly, Megaloblastic anemia, Th...	OMIM:620603
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume	OMIM:620044
Methylcobalamin Deficiency Type Cble	Increased mean corpuscular volume, Pancytopenia, Macrocytic anemia, Hypomethioninemia, Glomerulop...	ORPHA:2169
Cholestasis-Lymphedema Syndrome	Portal hypertension, Neonatal cholestatic liver disease, Splenomegaly, Biliary tract abnormality,...	ORPHA:1414
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Acute kidney injury, Increased circulating lactate dehydrogenase concentration, Anuria, Microangi...	ORPHA:90038
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Abnormal hemoglobin, Thrombocytopenia	ORPHA:3319
Hypercholesterolemia, Familial, 2	Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:144010
Reticular Dysgenesis	Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus	OMIM:267500
Imerslund-Grasbeck Syndrome 1	Proteinuria, Microscopic hematuria, Megaloblastic anemia	OMIM:261100
Denys-Drash Syndrome	Nephropathy, Proteinuria, Nephrotic syndrome, Nephroblastoma	ORPHA:220
Renal Hypoplasia	Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec...	ORPHA:93101
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Elevated circula...	OMIM:614455
Benign Recurrent Intrahepatic Cholestasis	Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio...	ORPHA:65682
Alpha-1-Antitrypsin Deficiency	Hepatic failure, Reduced circulating alpha-1-antitrypsin concentration, Hepatitis, Cholestasis, C...	ORPHA:60
Fructose-1,6-Bisphosphatase Deficiency	Neonatal hyperbilirubinemia, Elevated circulating hepatic transaminase concentration, Increased u...	ORPHA:348
Gracile Syndrome	Increased circulating ferritin concentration, Cholestasis, Hepatic steatosis, Cirrhosis, Elevated...	ORPHA:53693
Dpm3-Cdg	Elevated circulating hepatic transaminase concentration, Elevated creatine kinase after exercise	ORPHA:263494
Protoporphyria, Erythropoietic, 1	Cholelithiasis, Hepatic failure, Hypertriglyceridemia	OMIM:177000
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia	OMIM:619523
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertension, Splen...	OMIM:617068
Disabling Pansclerotic Morphea Of Childhood	Elevated circulating C-reactive protein concentration, Lymphopenia, Neutropenia	OMIM:620443
Glycogen Storage Disease Ib	Focal segmental glomerulosclerosis, Xanthelasma, Decreased glomerular filtration rate, Hyperlipid...	OMIM:232220
Hjv Or Hamp-Related Hemochromatosis	Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra...	ORPHA:79230
Galloway-Mowat Syndrome 7	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom...	OMIM:618348
Budd-Chiari Syndrome	Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Portal hypertensi...	ORPHA:131
Fanconi Renotubular Syndrome 5	Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Hypophosphatemic rickets, Proteinuria,...	OMIM:618913
Hijazi-Reis Syndrome	Hyperbilirubinemia	OMIM:301094
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Renal insufficiency, Hyperammonemia, Renal tubular dysfunction, Hepatomegaly, Thrombocytopenia, N...	ORPHA:289916
Carnitine Palmitoyltransferase I Deficiency	Elevated circulating hepatic transaminase concentration, Ketonuria, Dicarboxylic aciduria, Elevat...	OMIM:255120
Fanconi Renotubular Syndrome 2	Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Decreased g...	OMIM:613388
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Myoglobinuria, Renal insufficiency	OMIM:255110
Immunodeficiency 47	Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans...	OMIM:300972
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat...	OMIM:605911
Cernunnos-Xlf Deficiency	Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia	ORPHA:169079
Imerslund-Grasbeck Syndrome 2	Moderate albuminuria, Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Megal...	OMIM:618882
Coach Syndrome 2	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Portal fibrosis, Eleva...	OMIM:619111
Paternal Uniparental Disomy Of Chromosome 1	Proteinuria, Episodic hemolytic anemia, Increased blood urea nitrogen, Macroscopic hematuria, Mem...	ORPHA:251004
Genetic Recurrent Myoglobinuria	Acute kidney injury, Elevated circulating hepatic transaminase concentration, Hyperphosphatemia, ...	ORPHA:99845
Lymphangiectasia, Intestinal	Neonatal hypoproteinemia, Lymphopenia	OMIM:152800
Car T Cell Therapy-Associated Cytokine Release Syndrome	Acute kidney injury, Elevated circulating hepatic transaminase concentration, Elevated circulatin...	ORPHA:542323
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypoalbuminemia, Urinary bladder sphincter dysfunction, Elevated circulating creatine kinase conc...	ORPHA:64753
Autosomal Erythropoietic Protoporphyria	Cholelithiasis, Cirrhosis, Abnormal circulating porphyrin concentration, Decreased liver function	ORPHA:79278
Tyrosinemia, Type Iii	Elevated circulating hepatic transaminase concentration, 4-Hydroxyphenylpyruvic aciduria, 4-hydro...	OMIM:276710
Nephronophthisis 16	Periportal fibrosis, Nephronophthisis, Cholestasis, Stage 5 chronic kidney disease, Renal insuffi...	OMIM:615382
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy...	ORPHA:67044
Refractory Anemia	Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Erythroid hypoplasia, Neut...	ORPHA:98826
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Abnormal circulating e...	ORPHA:79240
Chronic Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypernatremia	ORPHA:529808
Pyruvate Dehydrogenase E3 Deficiency	Increased urine alpha-ketoglutarate concentration, Elevated circulating branched chain amino acid...	ORPHA:2394
Acute Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypernatremia	ORPHA:529799
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Anti-Glomerular Basement Membrane Disease	Renal insufficiency, Proteinuria, Hematuria, Glomerulopathy, Anemia	ORPHA:375
Bile Acid Synthesis Defect, Congenital, 6	Steatorrhea, Hypolipidemia, Elevated circulating aspartate aminotransferase concentration, Elevat...	OMIM:617308
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Elevated gamma-glutamyltransferase level, Stomatocytosis, Splenomegaly, Conjugated hyperbilirubin...	OMIM:608885
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hyperglycinuria, Elevated circulating hepatic transaminase concentration, Decreased circulating c...	OMIM:201450
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Aminoaciduria, Glycosuria, Decreased liver function, Hyperphosphaturia, Renal tubular dysfunction...	ORPHA:436271
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Elevated gamma-glutamyltransferase level, Recurrent urinary tract infections, Elevated circulatin...	OMIM:613095
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Portal fibrosis, Cholestasis, Microvesicular hepatic steatosis, Increased serum...	OMIM:619377
Neuraminidase Deficiency	Urinary excretion of sialylated oligosaccharides, Ascites, Increased urinary O-linked sialopeptid...	OMIM:256550
Spastic Paraplegia 29, Autosomal Dominant	Neonatal hyperbilirubinemia, Urinary hesitancy, Nocturia, Urinary incontinence, Urinary urgency	OMIM:609727
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating acylcarnitine concentration, Hepatic failure, Red-brown urine, Decreased pla...	ORPHA:157
Bleeding Disorder, Platelet-Type, 19	Anemia, Macrothrombocytopenia, Thrombocytopenia	OMIM:616176
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration	OMIM:208920
Familial Thyroid Dyshormonogenesis	Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Prolonged neonatal...	ORPHA:95716
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt...	OMIM:614172
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia, Hypoproteinemia	OMIM:207731
Immunodeficiency 18	Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD...	OMIM:615615
Metachromatic Leukodystrophy	Gallbladder dysfunction, Reduced leukocyte arylsulfatase A activity, Cholecystitis	OMIM:250100
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Fumarase Deficiency	Aminoaciduria, Intrahepatic cholestasis, Hepatic failure, Elevated urine fumaric acid level, Poly...	OMIM:606812
Immunodeficiency 8 With Lymphoproliferation	Lymphopenia	OMIM:615401
Becker Muscular Dystrophy	Myoglobinuria, Elevated circulating hepatic transaminase concentration, Abnormal urinary color, E...	ORPHA:98895
Cryoglobulinemic Vasculitis	Abnormality of the liver, Renal insufficiency, Splenomegaly, Hematuria, Proteinuria, Glomerulopat...	ORPHA:91138
Glycogen Storage Disease V	Myoglobinuria, Dark urine, Hyperuricemia, Elevated circulating creatine kinase concentration	OMIM:232600
Immunodeficiency 105	Reduced natural killer cell count, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired lympho...	OMIM:619924
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane...	OMIM:300946
Alport Syndrome 3A, Autosomal Dominant	Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Neph...	OMIM:104200
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ...	OMIM:618641
Hepatitis, Fulminant Viral, Susceptibility To	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Jaundice,...	OMIM:618549
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Nodular regenerative hyperplasia of liver, Abnormality of the hepatic vasculature, Elevated circu...	ORPHA:210136
Acetophenetidin Sensitivity	Methemoglobinemia, Hemolytic anemia	OMIM:200300
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating acylcarnitine concentration, Hepatic failure, Red-brown urine, Dicarboxylic ...	ORPHA:228308
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Splenomega...	ORPHA:251380
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Anemia, Abnormality of the kidney, Neutrophilia, Elevated circulating C-reactive p...	ORPHA:54251
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Reni Syndrome	Hypoalbuminemia, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Lympho...	OMIM:617575
Free Sialic Acid Storage Disease	Ascites, Splenomegaly, Proteinuria, Hepatomegaly, Nephrotic syndrome	ORPHA:834
Infantile Liver Failure Syndrome 2	Acute hepatic failure, Jaundice, Elevated circulating hepatic transaminase concentration, Hyperam...	OMIM:616483
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Anemia, Nephropathy, Nephrotic syndrome, Proteinuria	ORPHA:1192
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypocholesterolemia, Elevated circulating aspartate amin...	OMIM:615558
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Splenomegaly, Hepatomegaly, Lymphocytosis, Neutropenia, Monocytosis, Leukemia, Auto...	OMIM:614470
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Hypercholesterolemia	ORPHA:254531
Immunodeficiency 91 And Hyperinflammation	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	OMIM:619644
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Chronic kidney disease, Hepatic fibrosis, Nephritis, Renal insufficiency, Proteinuria, Renal cyst...	OMIM:208500
Nephrotic Syndrome, Type 1	Hypoalbuminemia, Hyperlipidemia, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria,...	OMIM:256300
X-Linked Sideroblastic Anemia	Abnormality of iron homeostasis, Elevated circulating hepatic transaminase concentration, Splenom...	ORPHA:75563
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Renal hypoplasia, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ...	OMIM:614376
Renal Dysplasia	Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure...	ORPHA:93108
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Elevated circulating tetradecanoylcarnitine concentration, Increased urine alpha-ketoglutarate co...	OMIM:619355
Dysbetalipoproteinemia	Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hepatic steatosis, Hy...	ORPHA:412
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Dicarboxylic aciduria, Hepatic necrosis, Fulminant hepatic failure, Hepatic steatosis, Myoglobinu...	OMIM:231530
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated circulating hepatic transaminase concentration, Glycosuria, Hypophosphatemic rickets, Pa...	ORPHA:263455
Aicardi-Goutieres Syndrome 9	Hypoalbuminemia, Hepatic fibrosis, Thickened glomerular basement membrane, Elevated circulating h...	OMIM:619487
Renal Cysts And Diabetes Syndrome	Decreased numbers of nephrons, Pancreatic atrophy, Abnormality of the kidney, Hypospadias, Elevat...	OMIM:137920
Renal Hypoplasia, Bilateral	Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas...	ORPHA:97362
Lymphoproliferative Syndrome, X-Linked, 1	Hypoalbuminemia, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal...	OMIM:308240
Osteopetrosis, Autosomal Recessive 5	Extramedullary hematopoiesis, Pancytopenia, Hepatosplenomegaly, Hyperbilirubinemia, Hypocalcemia,...	OMIM:259720
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Chronic kidney disease, Acute kidney injury, Elevated circulating hepatic transaminase concentrat...	ORPHA:284426
Laron Syndrome	Hypoplasia of penis, Hypercholesterolemia	ORPHA:633
Glycogen Storage Disease Due To Aldolase A Deficiency	Acute kidney injury, Reduced circulating aldolase concentration, Myoglobinuria, Hyperkalemia, Hem...	ORPHA:57
Graft Versus Host Disease	Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Hyperbilirubinemia, ...	ORPHA:39812
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Nephropathy, Homocystinuria, Acute kidney injury, Cystathioninemia, Decreased methylmalonyl-CoA m...	OMIM:277400
Dent Disease	Renal hypophosphatemia, Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerul...	ORPHA:1652
Familial Mediterranean Fever, Autosomal Dominant	Proteinuria, Peritonitis, Renal amyloidosis, Renal insufficiency	OMIM:134610
Congenital Generalized Lipodystrophy	Hepatic steatosis, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly, Increased...	ORPHA:528
Tyrosinemia, Type I	Hypermethioninemia, Nephrocalcinosis, Elevated urinary succinylacetone level, Hypophosphatemic ri...	OMIM:276700
Porphyria Cutanea Tarda	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation...	ORPHA:101330
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Elevated gamma-glutamyltransferase level, Elevated cir...	OMIM:619463
Alport Syndrome 2, Autosomal Recessive	Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag...	OMIM:203780
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation	OMIM:124900
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Aminoaciduria, Glycosuria, Decreased liver function, Hyperphosphaturia, Renal tubular dysfunction...	OMIM:220110
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Acute kidney injury, Increased phosphoribosylpyrophosphate synthetase level, Stage 4 chronic kidn...	ORPHA:411536
Oslam Syndrome	Abnormality of neutrophils, Increased mean corpuscular volume	ORPHA:2760
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Anisocytosis, Cardiomegaly, Po...	OMIM:618278
Galloway-Mowat Syndrome 5	Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 5 ch...	OMIM:617731
Trichohepatoenteric Syndrome 1	Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Galactosuria, Sple...	OMIM:222470
Wolfram Syndrome, Mitochondrial Form	Hydroureter, Sideroblastic anemia, Hydronephrosis, Megaloblastic anemia, Neutropenia, Thrombocyto...	OMIM:598500
Abetalipoproteinemia	Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Abnormal circulating apolipoprotein co...	ORPHA:14
Fanconi-Bickel Syndrome	Nephropathy, Generalized aminoaciduria, Hepatic failure, Nephrocalcinosis, Glycosuria, Elevated c...	ORPHA:2088
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	OMIM:620138
Smith-Magenis Syndrome	Abnormal renal morphology, Abnormality of the urinary system, Hypercholesterolemia, Hypertriglyce...	OMIM:182290
Spinocerebellar Ataxia, Autosomal Recessive 23	Hyponatremia, Neutropenia	OMIM:616949
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Anemia, Hypochromic Microcytic, With Iron Overload 2	Increased circulating ferritin concentration, Sideroblastic anemia, Splenomegaly, Anemia, Elevate...	OMIM:615234
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Increased mean corpuscular volume, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Hepatome...	OMIM:613839
Coenzyme Q10 Deficiency, Primary, 1	Focal segmental glomerulosclerosis, Hepatic failure, Pancytopenia, Elevated circulating creatine ...	OMIM:607426
Pseudo-Torch Syndrome 3	Acute kidney injury, Increased circulating ferritin concentration, Leukocytosis, Cardiomegaly, Pr...	OMIM:618886
Phosphoglycerate Kinase 1 Deficiency	Exercise-induced myoglobinuria, Erythroid hyperplasia, Renal insufficiency, Reticulocytosis, Hemo...	OMIM:300653
Interstitial Lung And Liver Disease	Aminoaciduria, Elevated gamma-glutamyltransferase level, Hepatic fibrosis, Hepatic failure, Chole...	OMIM:615486
Glycogen Storage Disease Ia	Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Decr...	OMIM:232200
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Hypoproteinemia	ORPHA:1116
Galloway-Mowat Syndrome 2, X-Linked	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:301006
Congenital Disorder Of Glycosylation, Type Iiq	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, El...	OMIM:617395
Infantile Liver Failure Syndrome 1	Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Hepatic steatosis...	OMIM:615438
Bernard-Soulier Syndrome	Giant platelets, Decreased platelet glycoprotein Ib-IX-V, Partially duplicated kidney, Macroscopi...	ORPHA:274
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Somatostatinoma	Intrahepatic cholestasis, Increased circulating cortisol level, Neoplasm of the pancreas, Intermi...	ORPHA:97283
Cystinosis	Nephropathy, Aminoaciduria, Portal hypertension, Renal insufficiency, Renal tubular dysfunction, ...	ORPHA:213
Macrophage Activation Syndrome	Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, He...	ORPHA:158061
Congenital Analbuminemia	Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin	ORPHA:86816
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Decreased circulating carnitine concentration, Hepatocellular necrosis, Dica...	OMIM:201475
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta...	OMIM:619849
Acth Deficiency, Isolated	Cholestasis, Decreased circulating cortisol level, Jaundice	OMIM:201400
Peroxisome Biogenesis Disorder 5A (Zellweger)	Elevated gamma-glutamyltransferase level, Hypospadias, Increased circulating very long-chain fatt...	OMIM:614866
Al Amyloidosis	Hypoalbuminemia, Howell-Jolly bodies, Abnormality of the liver, Renal insufficiency, Elevated cir...	ORPHA:85443
Frasier Syndrome	Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease	OMIM:136680
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Nephrocalcinosis, Xanthelasma, Stage 5 chronic kidney disease, Hyperlipidemia, Hyperuricemia, Nep...	ORPHA:79259
Mitochondrial Trifunctional Protein Deficiency 1	Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce...	OMIM:609015
Immunodeficiency 76	Lymphopenia, T lymphocytopenia, Splenomegaly, B lymphocytopenia	OMIM:619164
Distal 16P11.2 Microdeletion Syndrome	Chronic kidney disease, Renal agenesis, Vesicoureteral reflux, Hyperuricemia, Proteinuria, Abnorm...	ORPHA:261222
Temple Syndrome	Hypercholesterolemia, Hypertriglyceridemia	OMIM:616222
Juvenile Nephropathic Cystinosis	Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopath...	ORPHA:411634
Griscelli Syndrome Type 2	Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenomegaly, Neutropenia, Hepatomegaly	ORPHA:79477
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Increased circulating ferritin concentration, Hypoplasia of th...	OMIM:619313
Cednik Syndrome	Proteinuria, Nephrotic syndrome	ORPHA:66631
Morgagni-Stewart-Morel Syndrome	Hypercholesterolemia, Hyperuricemia	ORPHA:77296
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume	OMIM:620475
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Macrothrombocytopenia, Impaired platelet aggregation	OMIM:613112
Mitochondrial Trifunctional Protein Deficiency 2	Elevated circulating aspartate aminotransferase concentration, Hyperammonemia, Elevated circulati...	OMIM:620300
Congenital Bile Acid Synthesis Defect Type 4	Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Elevated circulating hepatic tra...	ORPHA:79095
Argininemia	Portal fibrosis, Micronodular cirrhosis, Cholestasis, Oroticaciduria, Hyperammonemia, Hyperargini...	OMIM:207800
Paroxysmal Nocturnal Hemoglobinuria 1	Paroxysmal nocturnal hemoglobinuria	OMIM:300818
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat...	ORPHA:71212
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Elevated urinary 3-hydroxybutyric acid, ...	ORPHA:42
Acquired Aneurysmal Subarachnoid Hemorrhage	Left ventricular hypertrophy, Hypercholesterolemia, Leukocytosis	ORPHA:90065
Adult-Onset Still Disease	Elevated circulating hepatic transaminase concentration, Hepatitis, Abnormal circulating lipid co...	ORPHA:829
Methylmalonic Aciduria, Cblb Type	Ketonuria, Methylmalonic aciduria, Elevated circulating propionylcarnitine concentration, Pancyto...	OMIM:251110
Dent Disease 1	Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo...	OMIM:300009
Syndromic Diarrhea	Renal hypoplasia, Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Thrombocytosis, Hepatomega...	ORPHA:84064
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg...	OMIM:603903
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Hepatic failure, Increased mean corpuscular volume, Po...	OMIM:620367
Primary Fanconi Renotubular Syndrome	Renal phosphate wasting, Chronic kidney disease, Generalized aminoaciduria, Hypouricemia, Decreas...	ORPHA:3337
Lysosomal Acid Lipase Deficiency	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Decre...	ORPHA:275761
Gallbladder Neuroendocrine Tumor	Elevated gamma-glutamyltransferase level, Biliary tract neoplasm, Cholecystitis, Elevated alkalin...	ORPHA:100086
Cadds	Increased circulating very long-chain fatty acid concentration, Cholangitis, Elevated circulating...	ORPHA:369942
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Decreased urinary urate, Lymphopenia, Autoimmune hemolytic anemia, Abnormal T cell ...	ORPHA:760
Shwachman-Diamond Syndrome	Normocytic anemia, Hypoamylasemia, Aplastic anemia, Leukemia, Increased mean corpuscular volume, ...	ORPHA:811
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Myoglobinuria, Decreased liver function	OMIM:602199
Liver Disease, Severe Congenital	Portal inflammation, Hyperbilirubinemia, Hepatic steatosis, Abnormal hepatic echogenicity, Hepato...	OMIM:619991
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia	ORPHA:2582
Hypomagnesemia 3, Renal	Chronic kidney disease, Hyperphosphatemia, Elevated circulating alkaline phosphatase concentratio...	OMIM:248250
Congenital Erythropoietic Porphyria	Red-brown urine, Purple urine, Leukopenia, Erythroid hyperplasia, Abnormal circulating porphyrin ...	ORPHA:79277
Autoinflammatory Disease, Systemic, With Vasculitis	Elevated gamma-glutamyltransferase level, Hepatic fibrosis, Cholestasis, Elevated circulating asp...	OMIM:620376
Majeed Syndrome	Leukocytosis, Splenomegaly, Proteinuria, Glomerulopathy, Hypochromic microcytic anemia, Congenita...	ORPHA:77297
Carnitine Palmitoyl Transferase 1A Deficiency	Hepatic failure, Elevated circulating hepatic transaminase concentration, Renal tubular acidosis,...	ORPHA:156
Congenital Disorder Of Glycosylation, Type Iig	Giant platelets, Renal insufficiency, Hydronephrosis, Left ventricular hypertrophy, Thrombocytope...	OMIM:611209
Anemia, Congenital Dyserythropoietic, Type Iiia	Increased circulating lactate dehydrogenase concentration, Macrocytic anemia, Anemia of inadequat...	OMIM:105600
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab...	OMIM:608203
Hellp Syndrome	Acute kidney injury, Elevated circulating hepatic transaminase concentration, Increased circulati...	ORPHA:244242
Tafro Syndrome	Increased circulating lactate dehydrogenase concentration, Ascites, Hepatosplenomegaly, Leukocyto...	ORPHA:457077
9Q31.1Q31.3 Microdeletion Syndrome	Renovascular hypertension, Hypercholesterolemia	ORPHA:401923
Immunodeficiency 95	Lymphopenia	OMIM:619773
Hypothyroidism Due To Tsh Receptor Mutations	Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Increased circulating thyroglobulin con...	ORPHA:90673
Telangiectasia, Hereditary Hemorrhagic, Type 5	Elevated circulating hepatic transaminase concentration, Portal hypertension	OMIM:615506
Yellow Fever	Acute kidney injury, Pancreatic hyperplasia, Anuria, Elevated circulating aspartate aminotransfer...	ORPHA:99829
Meckel Syndrome, Type 8	Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys	OMIM:613885
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
H Syndrome	Microcytic anemia, Hepatosplenomegaly, Abnormality of the kidney, Hypertriglyceridemia, Micropeni...	ORPHA:168569
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni...	OMIM:300539
Ddost-Cdg	Nephrotic range proteinuria, Elevated circulating hepatic transaminase concentration, Hepatic ste...	ORPHA:300536
Pyruvate Carboxylase Deficiency	Neonatal hyperbilirubinemia, Hyperammonemia, Hyperglutamatemia, Hyperprolinemia, Hypoglutaminemia...	ORPHA:3008
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Glycosuria, Ketonuria	ORPHA:2089
Renal-Hepatic-Pancreatic Dysplasia 1	Cholestasis, Cirrhosis, Hepatomegaly, Polycystic kidney dysplasia, Renal dysplasia, Bile duct pro...	OMIM:208540
Pediatric Systemic Lupus Erythematosus	Nephritis, Abnormality of the urinary system, Increased circulating lactate dehydrogenase concent...	ORPHA:93552
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Splenomegaly, ...	OMIM:263200
Galloway-Mowat Syndrome 6	Hypoalbuminemia, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria	OMIM:618347
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis	OMIM:619281
Multicentric Carpotarsal Osteolysis Syndrome	Proteinuria, Bilateral renal atrophy, Stage 5 chronic kidney disease, Renal insufficiency	OMIM:166300
Takenouchi-Kosaki Syndrome	Unilateral renal agenesis, Hydronephrosis, Thrombocytopenia, Hypospadias, Increased mean platelet...	OMIM:616737
Wild Type Attr Amyloidosis	Nephropathy, Renal insufficiency, Elevated circulating alkaline phosphatase concentration, Protei...	ORPHA:330001
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Multicystic kidney dysplasia, Increased mean corpusc...	OMIM:619774
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Elevated gamma-glutamyltransferase level, Abnormality of the hepatic vasculatu...	ORPHA:247691
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Decreased urinary urate, Recurrent urinary tract infections, Pure red cell aplasia,...	OMIM:613179
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Hemophagocytic Syndrome Associated With An Infection	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Abnormal T cell sub...	ORPHA:158048
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration...	ORPHA:300298
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Impaired platelet aggregation, Macrocytic anemia, Anisocytosis,...	OMIM:300835
Igg4-Related Kidney Disease	Chronic kidney disease, Abnormal mesentery morphology, Urethritis, Hematuria, Tubulointerstitial ...	ORPHA:449395
Bachmann-Bupp Syndrome	Hyperbilirubinemia	OMIM:619075
Ataxia With Vitamin E Deficiency	Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:277460
Oligomeganephronia	Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas...	ORPHA:2260
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Ketonuria, Microcytic anemia, 3-Methylglutaconic aciduria, Elevated circulating creatine kinase c...	OMIM:251900
Galloway-Mowat Syndrome 4	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Congenital nephrotic syndrome...	OMIM:617730
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro...	ORPHA:35858
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Hypoalbuminemia, Elevated circulating hepatic transaminase concentrati...	ORPHA:540
Glycogen Storage Disease Ic	Focal segmental glomerulosclerosis, Cyclic neutropenia, Decreased glomerular filtration rate, Chr...	OMIM:232240
Immunodeficiency 13	Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp...	OMIM:615518
Smith-Magenis Syndrome	Abnormality of the ureter, Renal hypoplasia/aplasia, Hypercholesterolemia, Hypertriglyceridemia, ...	ORPHA:819
Alport Syndrome 1, X-Linked	Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Stag...	OMIM:301050
Systemic Lupus Erythematosus 17	Lymphopenia, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia	OMIM:301080
Hereditary Cryohydrocytosis With Reduced Stomatin	Spontaneous hemolytic crises, Hepatosplenomegaly, Stomatocytosis, Conjugated hyperbilirubinemia	ORPHA:168577
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hypoalbuminemia, Heparan sulfate excretion in urine, Hepatosplenomegaly, Leukopenia, Urinary glyc...	ORPHA:505248
North American Indian Childhood Cirrhosis	Prolonged neonatal jaundice, Biliary cirrhosis, Portal hypertension	OMIM:604901
Legionnaires Disease	Hepatitis, Lymphopenia, Renal insufficiency, Splenomegaly, Hyponatremia, Hematuria, Proteinuria, ...	ORPHA:549
Alport Syndrome	Thickened glomerular basement membrane, Focal segmental glomerulosclerosis, Glomerular basement m...	ORPHA:63
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Hypoalbuminemia, Nephropathy, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuri...	OMIM:254900
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Steatorrhea, Elevated circulating hepatic transaminase concentration, Exocrine pancreatic insuffi...	OMIM:618752
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Autoimmune thrombocytopenia, D...	OMIM:619846
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Hyperaldosteronism, Familial, Type I	Hyperaldosteronism, Decreased circulating renin level	OMIM:103900
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transamin...	OMIM:242150
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Proximal tubulopathy, Increased serum prostaglandin E2, Hypokalemia, Abnormal magnesium concentra...	OMIM:241150
Blue Diaper Syndrome	Nephrocalcinosis, Elevated circulating hepatic transaminase concentration, Hyperphosphatemia, Blu...	ORPHA:94086
Cranioectodermal Dysplasia 2	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Biliary cirrhosis, Poly...	OMIM:613610
Malignant Hyperthermia, Susceptibility To, 1	Myoglobinuria, Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:145600
Isolated Thyroid-Stimulating Hormone Deficiency	Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Hypercholesterolem...	ORPHA:90674
Corticosterone Methyloxidase Type Ii Deficiency	Increased circulating 18-hydroxycortisone level, Hyponatremia, Increased circulating corticostero...	OMIM:610600
Hypocalcemia, Autosomal Dominant 1	Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Decreased glomerular filtration rate, Hypoca...	OMIM:601198
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Enlarged kidney, Nephroblastoma	OMIM:618272
Diffuse Alveolar Hemorrhage	Elevated circulating creatinine concentration, Leukocytosis, Hematuria, Proteinuria, Thrombocytop...	ORPHA:90060
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria, Dark urine, Elevated...	ORPHA:368
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperbilirubinemia, Hypocalcemia, Hydronephrosis, Micropenis, Thrombocytopenia, Anemia, Hypospadias	ORPHA:163979
Methylmalonic Aciduria, Cbla Type	Ketonuria, Methylmalonic aciduria, Pancytopenia, Hyperglycinemia, Hyperammonemia, Elevated urine ...	OMIM:251100
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti...	ORPHA:169154
Gallbladder Disease 4	Cholelithiasis	OMIM:611465
Pauci-Immune Glomerulonephritis	Acute kidney injury, Elevated circulating creatinine concentration, Decreased glomerular filtrati...	ORPHA:93126
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Abnormal renal cortex morphology, Hyperbilirubinemia, Thrombocytopenia, Abnormality of the kidney	ORPHA:464321
Porphyria Variegata	Chronic kidney disease, Elevated circulating hepatic transaminase concentration, Abnormality of t...	ORPHA:79473
Abdominal Obesity-Metabolic Syndrome 3	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:615812
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Hypercholesterolemia	ORPHA:96184
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Decreased circulating renin level	OMIM:605115
Papillorenal Syndrome	Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Elevate...	OMIM:120330
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Decreased liver functio...	OMIM:613658
Hypocomplementemic Urticarial Vasculitis	Ascites, Renal insufficiency, Splenomegaly, Hematuria, Proteinuria, Glomerulopathy, Hepatomegaly	ORPHA:36412
Diamond-Blackfan Anemia 7	Increased mean corpuscular volume, Horseshoe kidney, Vesicoureteral reflux, Macrocytic anemia, Ne...	OMIM:612562
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Macrocytic anemia	OMIM:612527
Biliary, Renal, Neurologic, And Skeletal Syndrome	Elevated gamma-glutamyltransferase level, Dilatation of the renal pelvis, Cholestasis, Hyperbilir...	OMIM:619534
Hypokalemic Tubulopathy And Deafness	Hyperaldosteronism, Renal salt wasting, Increased circulating renin level	OMIM:619406
Leiomyomatosis, Diffuse, With Alport Syndrome	Nephropathy, Thickened glomerular basement membrane, Glomerular basement membrane lamellation, St...	OMIM:308940
Beta-Thalassemia Major	Hepatic fibrosis, Abnormality of iron homeostasis, Reduced hemoglobin A, Extramedullary hematopoi...	ORPHA:231214
Neutral Lipid Storage Myopathy	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	ORPHA:98908
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Lymphopenia, Hemolytic anemia, Thrombocytopenia	OMIM:616744
Schimke Immuno-Osseous Dysplasia	Nephropathy, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Abnormal prop...	ORPHA:1830
Arima Syndrome	Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Hepatic steatosis, Renal sodi...	OMIM:243910
Dominant Beta-Thalassemia	Hepatic fibrosis, Abnormality of iron homeostasis, Reduced hemoglobin A, Extramedullary hematopoi...	ORPHA:231226
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F	OMIM:612561
Transcobalamin Ii Deficiency	Methylmalonic aciduria, Pancytopenia, Macrocytic anemia, Erythroid hypoplasia, Hepatomegaly, Reti...	OMIM:275350
Hypophosphatemic Rickets, X-Linked Recessive	Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-mole...	OMIM:300554
Congenital Disorder Of Glycosylation, Type Iif	Aminoaciduria, Proteinuria, Thrombocytopenia, Neutropenia, Macrothrombocytopenia	OMIM:603585
Fabry Disease	Lipiduria, Renal insufficiency, Proteinuria, Decreased alpha-galactosidase A activity, Left ventr...	OMIM:301500
Pearson Syndrome	Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Hepatomegaly, Hypoplastic spleen,...	ORPHA:699
Frasier Syndrome	Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Proteinuria, Glomerulopa...	ORPHA:347
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce...	ORPHA:99901
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypospadias, Hypercholesterolemia, Hypertriglyceridemia	OMIM:610644
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Pancytopen...	OMIM:618986
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Hematuria, Proteinuria, Elevated circulating hepatic transaminase concentration, Micronodular cir...	OMIM:192315
Carnitine-Acylcarnitine Translocase Deficiency	Elevated circulating acylcarnitine concentration, Hepatic failure, Elevated circulating hepatic t...	ORPHA:159
Neuroleptic Malignant Syndrome	Acute kidney injury, Elevated circulating hepatic transaminase concentration, Increased circulati...	ORPHA:94093
Galloway-Mowat Syndrome 10	Proteinuria, Stage 5 chronic kidney disease, Podocyte foot process effacement, Diffuse mesangial ...	OMIM:619609
Cystinosis, Nephropathic	Decreased circulating carnitine concentration, Hematuria, Hypophosphatemia, Hepatomegaly, Aminoac...	OMIM:219800
Herpes Simplex Virus Encephalitis	Elevated circulating C-reactive protein concentration, Hyponatremia, Leukocytosis, Neutrophilia	ORPHA:1930
Cryptogenic Organizing Pneumonia	Elevated circulating C-reactive protein concentration, Leukocytosis, Neutrophilia	ORPHA:1302
Psoriasis 14, Pustular	Elevated circulating C-reactive protein concentration, Leukocytosis, Neutrophilia	OMIM:614204
Mandibuloacral Dysplasia	Increased circulating free fatty acid level, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:2457
Kaposiform Lymphangiomatosis	Hepatosplenomegaly, Splenomegaly, Abnormal spleen morphology, Multiple renal cysts, Thrombocytope...	ORPHA:464329
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Neonatal hyperbilirubinemia	ORPHA:73272
Bardet-Biedl Syndrome 20	Pancreatitis, Elevated circulating hepatic transaminase concentration, Hypercholesterolemia	OMIM:619471
Paroxysmal Cold Hemoglobinuria	Hemoglobinuria, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Abnormal urinary c...	ORPHA:90035
Adult Idiopathic Neutropenia	Monocytopenia, Lymphopenia, Neutropenia, Monocytosis	ORPHA:2688
Shwachman-Diamond Syndrome 1	Nephrocalcinosis, Elevated circulating hepatic transaminase concentration, Persistence of hemoglo...	OMIM:260400
Peutz-Jeghers Syndrome	Biliary tract neoplasm, Pancreatic adenocarcinoma, Abnormality of the ureter, Abnormality of the ...	ORPHA:2869
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Renal insufficiency, Hyperalaninemia, Hypochromic microcytic anemia, Anemia, Increased serum pyru...	OMIM:619147
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Thickened glomerular basement membrane, Chronic kidney disease, Nephrocalcinosis, Unilateral rena...	OMIM:146255
Refractory Celiac Disease	Normocytic anemia, Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hypo...	ORPHA:398063
Avian Influenza	Hypoalbuminemia, Acute kidney injury, Lymphopenia, Leukopenia, Elevated circulating creatine kina...	ORPHA:454836
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Recurrent urinary tract infections, Lymphopenia, Leukopenia, Splenomegaly, Hepatomegaly	OMIM:620210
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Renal agenesis, Persisten...	ORPHA:124
Liddle Syndrome 2	Hypokalemia, Decreased circulating renin level	OMIM:618114
Liddle Syndrome 3	Hypokalemia, Decreased circulating renin level	OMIM:618126
Proteasome-Associated Autoinflammatory Syndrome 3	Lymphopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Hypertriglyceridemia, Anemia	OMIM:617591
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Asplenia, Enlarged kidney, Cystic renal dysplasia	OMIM:615415
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Hypospadias, Multicystic kidney dysplasia, Elevated circulating hepatic transaminase concentratio...	ORPHA:93111
Acquired Generalized Lipodystrophy	Abnormal circulating lipid concentration, Hepatic steatosis, Proteinuria, Cirrhosis, Hypertriglyc...	ORPHA:79086
Autosomal Recessive Polycystic Kidney Disease	Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Hypersplenism, Congeni...	ORPHA:731
Congenital Disorder Of Glycosylation, Type Ia	Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Proxi...	OMIM:212065
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Leukocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Abnormal neutrophil c...	ORPHA:3226
Triosephosphate Isomerase Deficiency	Normocytic anemia, Cholelithiasis, Cholecystitis, Splenomegaly, Macrocytic anemia, Prolonged neon...	OMIM:615512
Distal Xq28 Microduplication Syndrome	Neonatal hyperbilirubinemia	ORPHA:293939
Pituitary Hormone Deficiency, Combined, 6	Hyperbilirubinemia	OMIM:613986
Primary Hyperoxaluria Type 3	Nephrocalcinosis, Abnormal renal physiology, Hyperoxaluria, Hematuria, Abnormality of urine homeo...	ORPHA:93600
Lipodystrophy, Familial Partial, Type 2	Hepatic steatosis, Hypertriglyceridemia, Hypercholesterolemia, Decreased HDL cholesterol concentr...	OMIM:151660
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Exercise-induced myoglobinuria, Highly elevated creatine kinase	ORPHA:352479
Distal Renal Tubular Acidosis	Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Decrease...	ORPHA:18
Glycogen Storage Disease Ixd	Exercise-induced myoglobinuria, Reduced muscle phosphorylase kinase activity, Elevated circulatin...	OMIM:300559
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Stage 5 chronic...	OMIM:267010
Aapoaiv Amyloidosis	Chronic kidney disease, Renal amyloidosis, Elevated circulating creatinine concentration, Hyperli...	ORPHA:439232
Hemorrhagic Fever-Renal Syndrome	Chronic kidney disease, Acute kidney injury, Elevated circulating hepatic transaminase concentrat...	ORPHA:340
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Neutrophilia, Minimal change glomerulonephritis, Intraalveolar phospholipid accumulation, Leukocy...	OMIM:620565
Late-Onset Familial Hypoaldosteronism	Renal sodium wasting, Hyponatremia, Elevated serum 11-deoxycortisol, Abnormal circulating cortico...	ORPHA:556037
Primary Intestinal Lymphangiectasia	Hypoalbuminemia, Hypomagnesemia, Lymphopenia, Hypocalcemia, Reduced proportion of CD4+ effector m...	ORPHA:90362
Chylomicron Retention Disease	Elevated circulating hepatic transaminase concentration, Hypocholesterolemia, Hepatic steatosis, ...	ORPHA:71
Pheochromocytoma--Islet Cell Tumor Syndrome	Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level	OMIM:171420
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Proteinuria, Glomerular sclerosis, Glomerulonephritis, Nephrotic syndrome, Hypospadias	OMIM:619428
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Elevated circulating hepatic transaminase concentration, ...	ORPHA:79124
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T ce...	ORPHA:331206
Generalized Pustular Psoriasis	Hypoalbuminemia, Lymphopenia, Leukocytosis, Hypocalcemia, Renal insufficiency, Hyponatremia, Elev...	ORPHA:247353
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Myoglobinuria, Elevated circulating creatine kinase concentration	ORPHA:119
Bartter Syndrome, Type 5, Antenatal, Transient	Medullary nephrocalcinosis, Hypokalemia, Hyponatremia, Hypercalciuria, Polyuria, Hypochloremia, I...	OMIM:300971
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Elevated circulating C-reactive protein concentration, Increased proportion of CD4-positive T cel...	OMIM:617099
Immunodeficiency 44	Lymphopenia	OMIM:616636
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Chronic kidney disease, Minimal change glomerulonephritis, Hypoalbuminemia, Focal segmental glome...	ORPHA:567546
Dyskeratosis Congenita, Autosomal Dominant 1	Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leukopenia, Thrombocytopenia, An...	OMIM:127550
Degcags Syndrome	Chronic kidney disease, Renal hypoplasia, Bilateral renal dysplasia, Bilateral renal hypoplasia, ...	OMIM:619488
Alagille Syndrome 1	Hepatic failure, Elevated circulating hepatic transaminase concentration, Cholestasis, Exocrine p...	OMIM:118450
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho...	OMIM:607626
Diaphanospondylodysostosis	Nephroblastomatosis, Horseshoe kidney, Nephrogenic rest, Enlarged kidney, Cystic renal dysplasia	OMIM:608022
Liddle Syndrome 1	Hypokalemia, Decreased circulating renin level	OMIM:177200
X-Linked Intellectual Disability, Nascimento Type	Neonatal hyperbilirubinemia, Vesicoureteral reflux, Neutropenia, Micropenis, Hypospadias, Recurre...	ORPHA:163956
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyperaldosteronism, Hyperkalemia, Hyponatremia, Increased circulating renin level	OMIM:620126
Schimke Immunoosseous Dysplasia	Focal segmental glomerulosclerosis, Lymphopenia, Pancytopenia, Abnormal T cell morphology, Renal ...	OMIM:242900
Primary Sclerosing Cholangitis	Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho...	ORPHA:171
Congenital Disorder Of Glycosylation, Type Iic	Reduction of neutrophil motility, Neutrophilia	OMIM:266265
Simple Cryoglobulinemia	Nephritis, Renal insufficiency, Mesangial hypercellularity, Chronic lymphatic leukemia, Proteinur...	ORPHA:91139
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyperaldosteronism, Hyperkalemia, Hyponatremia, Increased circulating renin level	OMIM:620125
Fucosidosis	Hepatomegaly, Mucopolysacchariduria, Abnormality of the gallbladder, Cardiomegaly	ORPHA:349
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Hyperkalemia, Decreased circulating renin level	OMIM:614492
Bone Marrow Failure Syndrome 3	Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, Ac...	OMIM:617052
Q Fever	Elevated circulating hepatic transaminase concentration, Hepatitis, Hepatosplenomegaly, Abnormali...	ORPHA:781
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Enlarged kidney	ORPHA:90301
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Lymphopenia, T lymphocytopenia, B lymphocytopenia	ORPHA:277
Megalocornea-Intellectual Disability Syndrome	Hypercholesterolemia	ORPHA:2479
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Unilateral renal agenesis, Hydronephrosis, Thrombocytopenia, Hypospadias, Increased mean platelet...	ORPHA:487796
Cockayne Syndrome Type 1	Elevated circulating hepatic transaminase concentration, Renal insufficiency, Proteinuria, Anemia...	ORPHA:90321
Xfe Progeroid Syndrome	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Ascites, Renal insuffic...	OMIM:610965
Autosomal Dominant Severe Congenital Neutropenia	Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Monocytosis, Leu...	ORPHA:486
Lmna-Related Cardiocutaneous Progeria Syndrome	Abnormal intrahepatic bile duct morphology, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:363618
Dyschondrosteosis-Nephritis Syndrome	Nephropathy, Proteinuria, Hematuria	ORPHA:1765
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease	Nephropathy, Proteinuria, Renal artery stenosis	OMIM:209010
Lissencephaly Due To Lis1 Mutation	Neonatal hyperbilirubinemia	ORPHA:95232
Paroxysmal Nocturnal Hemoglobinuria 2	Hemolytic anemia, Paroxysmal nocturnal hemoglobinuria	OMIM:615399
Oculocerebrorenal Syndrome Of Lowe	Proximal renal tubular acidosis, Aminoaciduria, Nephrocalcinosis, Oligosacchariduria, Hyperaldost...	ORPHA:534
Staphylococcal Necrotizing Pneumonia	Elevated circulating C-reactive protein concentration, Leukopenia, Leukocytosis, Neutrophilia	ORPHA:36238
Mirage Syndrome	Hypospadias, Microphallus, Recurrent urinary tract infections, Lymphopenia, Leukopenia, Hyponatre...	OMIM:617053
Neuhauser Syndrome	Hypercholesterolemia	OMIM:249310
Sporadic Pheochromocytoma/Secreting Paraganglioma	Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, G...	ORPHA:276621
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic...	ORPHA:98849
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Splenomegaly, Abscess, Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concen...	OMIM:612852
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Nephropathy, Proteinuria	ORPHA:2774
Sting-Associated Vasculopathy, Infantile-Onset	Lymphopenia, Leukopenia, Anemia, Thrombocytosis, Elevated circulating C-reactive protein concentr...	OMIM:615934
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Proteinuria, Stage 5 chronic kidney disease	OMIM:219900
Immunodeficiency 85 And Autoimmunity	Decreased proportion of memory B cells, Reduced natural killer cell count, Lymphopenia, Decreased...	OMIM:619510
Rett Syndrome	Increased serum pyruvate, Hyperammonemia, Cholecystitis	ORPHA:778
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia	OMIM:618309
Hyperaldosteronism, Familial, Type Iii	Hyperaldosteronism, Hypokalemia, Decreased circulating renin level	OMIM:613677
Apparent Mineralocorticoid Excess	Hypokalemia, Decreased circulating renin level	OMIM:218030
Ogden Syndrome	Polycythemia, Hyperbilirubinemia, Cardiomegaly, Global glomerulosclerosis, Iron deficiency anemia...	OMIM:300855
Malignant Hyperthermia Of Anesthesia	Acute kidney injury, Hyperphosphatemia, Acute hepatic failure, Myoglobinuria, Hyperkalemia, Eleva...	ORPHA:423
Immunodeficiency 49	Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc...	OMIM:617237
Familial Mediterranean Fever	Renal amyloidosis, Stage 5 chronic kidney disease, Leukocytosis, Splenomegaly, Hepatomegaly, Elev...	OMIM:249100
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel...	OMIM:616005
Insulin-Resistance Syndrome Type B	Hypoalbuminemia, Nephritis, Biliary cirrhosis, Hypotriglyceridemia, Glycosuria, Abnormal circulat...	ORPHA:2298
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia	ORPHA:88
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia, Decreased circulating nicotinamide adenine dinucleotide-cytochro...	OMIM:250800
Spondyloenchondrodysplasia	Chronic kidney disease, Hepatitis, Pancytopenia, Autoimmune hemolytic anemia, Hematuria, Proteinu...	ORPHA:1855
Renal Agenesis	Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins...	ORPHA:411709
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Hydronephrosis, Urethral atresia, Enlarged kidney	OMIM:314390
Bleeding Disorder, Platelet-Type, 17	Increased RBC distribution width, Absence of alpha granules, Thrombocytopenia, Macrothrombocytope...	OMIM:187900
Myopathy With Lactic Acidosis, Hereditary	Sideroblastic anemia, Leukopenia, Elevated circulating creatine kinase concentration, Myoglobinur...	OMIM:255125
Mucolipidosis Ii Alpha/Beta	Increased serum beta-hexosaminidase, Splenomegaly, Cardiomegaly, Mucopolysacchariduria, Hepatomeg...	OMIM:252500
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Hemolytic anemia, Paroxysmal nocturnal hemoglobinuria	OMIM:612300
Ziegler-Huang Syndrome	Micropenis, Neutropenia, Macrocytic anemia, Persistence of hemoglobin F	OMIM:620501
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Granuloma, Lymphopenia, Hepatosplenomegaly, Impaired oxidative burst, Splenomegaly, Abscess, Peri...	OMIM:618935
Congenital Disorder Of Glycosylation, Type Iiw	Elevated gamma-glutamyltransferase level, Moderate albuminuria, Elevated circulating hepatic tran...	OMIM:619525
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Renal insufficiency, Proteinuria, Glomerulopathy, Elliptocytosis, Microscopic hematuria	ORPHA:86818
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Hematuria, Proteinuria, Tubulointerstitial nephritis	OMIM:616901
Pgm3-Cdg	Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous abscess, Lymphopenia, Leukop...	ORPHA:443811
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Focal segmental glomerulosclerosis, Nephrotic syndrome, Mild proteinuria	OMIM:301108
Biliary Cirrhosis, Primary, 1	Biliary cirrhosis	OMIM:109720
Diamond-Blackfan Anemia 1	Renal hypoplasia, Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red ce...	OMIM:105650
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Chronic kidney disease, Decreased glomerular filtration rate, Proteinuria, Tubulointerstitial nep...	ORPHA:488627
Beckwith-Wiedemann Syndrome	Nephropathy, Visceromegaly, Polycythemia, Vesicoureteral reflux, Splenomegaly, Nephroblastoma, Ne...	ORPHA:116
Mandibuloacral Dysplasia With Type A Lipodystrophy	Hepatomegaly, Hyperlipidemia, Hypercholesterolemia, Calcinosis	OMIM:248370
Triploidy	Abnormality of the gallbladder, Hepatomegaly, Hypoplasia of penis, Hypospadias, Abnormality of th...	ORPHA:3376
Neurooculorenal Syndrome	Unilateral renal agenesis, Hypoplasia of the bladder, Bilateral renal agenesis, Hyperechogenic ki...	OMIM:620305
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Multicystic kidney dysplasia, Bifid ureter, Transient neutropenia, Nephroblastoma, Renal malrotat...	ORPHA:500095
Short Stature, Microcephaly, And Endocrine Dysfunction	Unilateral renal agenesis, Renal hypoplasia, Abnormal circulating lipid concentration, Lymphopeni...	OMIM:616541
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce...	OMIM:616878
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Cystic renal dysplasia, Enlarged kidney, Polysplenia	OMIM:200995
Gaucher Disease Type 3	Pancytopenia, Splenomegaly, Hematuria, Proteinuria, Anemia, Thrombocytopenia, Hepatomegaly	ORPHA:77261
Multicystic Dysplastic Kidney	Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure...	ORPHA:1851
Ectopic Aldosterone-Producing Tumor	Hypokalemia, Decreased circulating renin level, Glucocortocoid-insensitive primary hyperaldostero...	ORPHA:231632
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Leprechaunism	Nephrocalcinosis, Long penis, Hyperaldosteronism, Hypokalemia, Hypercalciuria, Enlarged ovaries, ...	ORPHA:508
Bartter Syndrome, Type 3	Nephrocalcinosis, Hyperchloriduria, Hypocalciuria, Hyperaldosteronism, Increased urinary potassiu...	OMIM:607364
Infantile Nephropathic Cystinosis	Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Renal tubular dys...	ORPHA:411629
Prader-Willi Syndrome	Micropenis, Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:176270
Proximal Renal Tubular Acidosis	Aminoaciduria, Nephrocalcinosis, Glycosuria, Hypernatriuria, Low-molecular-weight proteinuria, Bi...	ORPHA:47159
Lead Poisoning	Chronic kidney disease, Imbalanced hemoglobin synthesis, Increased LDL cholesterol concentration,...	ORPHA:330015
Hyperparathyroidism, Transient Neonatal	Unilateral renal agenesis, Splenic cyst, Enlarged kidney	OMIM:618188
Hereditary Pheochromocytoma-Paraganglioma	Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, G...	ORPHA:29072
Lowe Oculocerebrorenal Syndrome	Aminoaciduria, Elevated amniotic fluid alpha-fetoprotein, Low-molecular-weight proteinuria, Stage...	OMIM:309000
Acute Generalized Exanthematous Pustulosis	Elevated circulating hepatic transaminase concentration, Cholestasis, Leukocytosis, Renal insuffi...	ORPHA:293173
Renal Hypodysplasia/Aplasia 1	Proteinuria, Bilateral renal agenesis, Renal dysplasia	OMIM:191830
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Donnai-Barrow Syndrome	Proteinuria	ORPHA:2143
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Lymphopenia, Reduced natural killer cell count, Cutaneous abscess, Neutropenia	OMIM:619752
Sweet Syndrome	Leukocytosis, Chronic lymphatic leukemia, Anemia, Acute myeloid leukemia, Sterile abscess, Neutro...	ORPHA:3243
Vacterl/Vater Association	Multicystic kidney dysplasia, Abnormality of the urethra, Renal agenesis, Abnormality of the gall...	ORPHA:887
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Lymphope...	ORPHA:276
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Hypokalemia, Glucocortocoid-insensitive primary hyperaldosteronism, Increased circulating cortiso...	ORPHA:231625
Denys-Drash Syndrome	Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephroblastoma, ...	OMIM:194080
Methemoglobinemia And Ambiguous Genitalia	Micropenis, Methemoglobinemia, Hypospadias, Scrotal hypospadias	OMIM:250790
Cyclic Neutropenia	Lymphopenia, Cyclic neutropenia, Perianal abscess, Tooth abscess, Thrombocytopenia, Decreased eos...	ORPHA:2686
Familial Mediterranean Fever	Nephropathy, Nephrocalcinosis, Acute hepatic failure, Ascites, Leukocytosis, Splenomegaly, Protei...	ORPHA:342
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Recurrent urinary tract infections, Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Er...	OMIM:612541
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Elevated circulating hepatic transaminase concentration, Abnormal abdomen morphology, Hyperbiliru...	OMIM:619475
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Eosinophilia	ORPHA:169160
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Aplasia of...	OMIM:242700
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia	OMIM:619767
Distal Limb Deficiencies-Micrognathia Syndrome	Proteinuria, Renal hypoplasia, Renal insufficiency	ORPHA:1307
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Anemia, Lymphopenia, Thrombocytopenia	OMIM:620365
Gaucher Disease	Splenic infarction, Cholelithiasis, Hepatic failure, Hepatitis, Increased circulating ferritin co...	ORPHA:355
Hypothyroidism, Congenital, Nongoitrous, 2	Hyperbilirubinemia, Increased circulating thyroglobulin concentration	OMIM:218700
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Microcytic anemia, Hypospadias, HbH hemoglobin	ORPHA:98791
Genitopalatocardiac Syndrome	Abnormal mesentery morphology, Abnormality of the gallbladder, Hypospadias, Multicystic kidney dy...	ORPHA:2075
Pheochromocytoma	Proteinuria, Renal artery stenosis, Hypercalcemia, Elevated urinary norepinephrine level	OMIM:171300
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Autoimmune thrombocytopenia	OMIM:616100
Severe Oculo-Renal-Cerebellar Syndrome	Proteinuria, Glomerulopathy, Renal insufficiency	ORPHA:2715
Renal Nutcracker Syndrome	Renal artery stenosis, Hematuria, Proteinuria, Anemia, Microscopic hematuria	ORPHA:71273
Johanson-Blizzard Syndrome	Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Hepatic fibrosis, Hepatic fai...	OMIM:243800
Papa Syndrome	Proteinuria	ORPHA:69126
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Apparent Mineralocorticoid Excess	Hypokalemia, Abnormality of circulating cortisol level, Decreased circulating renin level	ORPHA:320
Primary Unilateral Adrenal Hyperplasia	Hypokalemia, Glucocortocoid-insensitive primary hyperaldosteronism, Decreased circulating renin l...	ORPHA:231580
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Lymphopenia, Splenomegaly, Aplasia of the t...	OMIM:602450
Peroxisome Biogenesis Disorder 1A (Zellweger)	Aminoaciduria, Prolonged neonatal jaundice, Hydronephrosis, Albuminuria, Hepatomegaly, Elevated c...	OMIM:214100
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Reduced red cell adenosine deaminase leve...	OMIM:102700
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Icf Syndrome	Anemia, Lymphopenia, Abnormality of neutrophils	ORPHA:2268
Galloway-Mowat Syndrome	Nephropathy, Nephrotic syndrome, Proteinuria	ORPHA:2065
Eosinophilic Granulomatosis With Polyangiitis	Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy, Eosinophilia, Tubulointerstitial nep...	ORPHA:183
Galloway-Mowat Syndrome 3	Hypoalbuminemia, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis, Glomer...	OMIM:617729
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Lymphopenia, Pancytopenia, Hepatosplenomegaly, Leukopenia, Leukocytosis, Splenomegaly, Hepatomega...	OMIM:615688
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Micropenis, Polycystic kidney dysplasia, Renal dysplasia, Enlarged kidney	OMIM:613091
Lymphedema-Distichiasis Syndrome	Recurrent urinary tract infections, Renal duplication, Proteinuria, Glomerulopathy, Tubulointerst...	ORPHA:33001
Lujo Hemorrhagic Fever	Oliguria, Lymphopenia, Leukopenia, Leukocytosis, Renal insufficiency, Thrombocytopenia, Elevated ...	ORPHA:319213
Fabry Disease	Nephropathy, Abnormal circulating lipid concentration, Hyperlipidemia, Renal insufficiency, Hemat...	ORPHA:324
Kawasaki Disease	Hypoalbuminemia, Hepatitis, Sterile pyuria, Leukocytosis, Cholecystitis, Proteinuria, Thrombocyto...	ORPHA:2331
Endocrine-Cerebroosteodysplasia	Hypospadias, Enlarged kidney, Microphallus, Hyperechogenic kidneys	OMIM:612651
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutropenia, Thrombocytopenia, Anemia	ORPHA:508542
Lymphoid Interstitial Pneumonia	Hepatomegaly, Enlarged kidney	ORPHA:79128
Immunodeficiency 23	Lymphopenia, Abscess, Eosinophilia, Membranoproliferative glomerulonephritis, Neutropenia, Hemoly...	OMIM:615816
Mandibuloacral Dysplasia Progeroid Syndrome	Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Prot...	OMIM:619127
Crimean-Congo Hemorrhagic Fever	Hepatic failure, Increased circulating lactate dehydrogenase concentration, Ascites, Pancytopenia...	ORPHA:99827
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Aminoaciduria, Beta 2-microglobulinuria, Sterile pyuria, Elevated circulating ...	ORPHA:91500
Gitelman Syndrome	Focal segmental glomerulosclerosis, Hypermagnesemia, Enuresis, Hypomagnesemia, Hypocalcemia, Tubu...	ORPHA:358
Alg9-Cdg	Hypoplasia of the bladder, Abnormal renal artery morphology, Hydronephrosis, Hepatomegaly, Ureter...	ORPHA:79328
Systemic Sclerosis	Chronic kidney disease, Acute kidney injury, Renal insufficiency, Elevated circulating creatine k...	ORPHA:90291
Ohdo Syndrome	Proteinuria	OMIM:249620
Martin-Probst Syndrome	Pancytopenia, Renal insufficiency, Proteinuria, Chordee, Micropenis	OMIM:300519
Beckwith-Wiedemann Syndrome	Nephrocalcinosis, Pancreatic hyperplasia, Renal cortical cysts, Vesicoureteral reflux, Nephroblas...	OMIM:130650
Trichothiodystrophy 6, Nonphotosensitive	Increased HbA2 hemoglobin, Decreased mean corpuscular volume	OMIM:616943
Acute Radiation Syndrome	Lymphopenia, Granulocytopenia, Thrombocytopenia	ORPHA:454831
Immunodeficiency 87 And Autoimmunity	Lymphopenia, Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Decreased proportion of CD4-po...	OMIM:619573
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Nephropathy, Chronic kidney disease, Stage 5 chronic kidney disease, Hematuria, Proteinuria	ORPHA:1018
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Hypokalemia, Primary hyperaldosteronism, Decreased circulating renin level	OMIM:615474
Infection-Related Hemolytic Uremic Syndrome	Acute kidney injury, Oliguria, Anuria, Leukocytosis, Hypocalcemia, Hyponatremia, Decreased urine ...	ORPHA:544482
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Renal hypoplasia, Hyperbilirubinemia, Renal cyst, Micropenis, Prolonged neonatal jaundice, Polycy...	OMIM:210710
Nail-Patella Syndrome	Thickened glomerular basement membrane, Nephritis, Stage 5 chronic kidney disease, Renal insuffic...	ORPHA:2614
Wiskott-Aldrich Syndrome	Nephropathy, Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Chro...	ORPHA:906
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Hypoplasia of the thymus, Impaired lympho...	OMIM:243150
Meacham Syndrome	Accessory spleen, Enlarged kidney, Horseshoe kidney	OMIM:608978
Malakoplakia	Urinary bladder inflammation, Urinary hesitancy, Hematuria, Proteinuria, Dysuria, Urinary urgency	ORPHA:556
Nail-Patella Syndrome	Renal insufficiency, Hematuria, Proteinuria, Glomerulonephritis, Nephrotic syndrome	OMIM:161200
Autoimmune Lymphoproliferative Syndrome	Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Autoimmune hemol...	ORPHA:3261
Lymphatic Filariasis	Urethral obstruction, Hypereosinophilia, Hematuria, Proteinuria, Glomerulonephritis, Abnormality ...	ORPHA:2035
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Exercise-induced myoglobinuria, Elevated circulating creatine kinase concentration	OMIM:607155
Ataxia-Telangiectasia	Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count, T lympho...	OMIM:208900
Secondary Intestinal Lymphangiectasia	Hypoalbuminemia, Secondary hyperaldosteronism, Reduced circulating transferrin concentration, Hyp...	ORPHA:90363
Eisenmenger Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Increased mean corpuscular volume,...	ORPHA:97214
Goodpasture Syndrome	Glomerular crescent formation, Erythrocyte cylindruria, Renal insufficiency, Cylindruria, Protein...	OMIM:233450
Galloway-Mowat Syndrome 1	Hypoalbuminemia, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Diffuse me...	OMIM:251300
Heterotaxy, Visceral, 1, X-Linked	Renal agenesis, Polysplenia, Horseshoe kidney, Cardiomegaly, Hepatomegaly, Asplenia, Enlarged kidney	OMIM:306955
Agel Amyloidosis	Proteinuria, Stage 5 chronic kidney disease, Abnormal spleen morphology	ORPHA:85448
Metachromatic Leukodystrophy, Late Infantile Form	Cholecystitis	ORPHA:309256
Vici Syndrome	Lymphopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, Penile hypospadias,...	OMIM:242840
Khan-Khan-Katsanis Syndrome	Renal hypoplasia, Lymphopenia, Vesicoureteral reflux, Hydronephrosis, Renal cyst, Neutropenia, An...	OMIM:618460
Melas	Nephropathy, Focal segmental glomerulosclerosis, Proximal tubulopathy, Proteinuria, Recurrent pan...	ORPHA:550
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Unconjugated hyperbilirubinemia, Aplasia of the thymus, Right ventricular hypertrophy	OMIM:620186
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Recurrent urinary tract infections, Abnormal hemoglobin, Hydronephrosis, Abnormality of the kidne...	ORPHA:847
Metachromatic Leukodystrophy, Juvenile Form	Cholecystitis	ORPHA:309263
Marburg Hemorrhagic Fever	Hypoalbuminemia, Neutrophilia in presence of infection, Elevated circulating creatinine concentra...	ORPHA:99826
Donnai-Barrow Syndrome	Proteinuria, Non-acidotic proximal tubulopathy	OMIM:222448
Thymoma	Aplastic anemia, Imbalanced hemoglobin synthesis, Glomerulonephritis, Leukemia, Pure red cell apl...	ORPHA:99867
Cockayne Syndrome	Urinary incontinence, Renal hypoplasia, Elevated circulating hepatic transaminase concentration, ...	ORPHA:191
Postinfectious Vasculitis	Elevated haptoglobin level, Hematuria, Proteinuria, Abnormal circulating protein concentration, G...	ORPHA:48435
Cornelia De Lange Syndrome 1	Renal hypoplasia, Reduced renal corticomedullary differentiation, Vesicoureteral reflux, Proteinu...	OMIM:122470
Metachromatic Leukodystrophy, Adult Form	Neoplasm of the gallbladder, Cholecystitis	ORPHA:309271
Granulomatosis With Polyangiitis	Ureteral stenosis, Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy, Hydronephrosis, P...	ORPHA:900
Steinert Myotonic Dystrophy	Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hypercholesterolemia	ORPHA:273
Isolated Permanent Neonatal Diabetes Mellitus	Moderate albuminuria, Ketonuria, Glycosuria, Pancreatic hypoplasia, Renal tubular dysfunction, Ab...	ORPHA:99885
Listeriosis	Acute kidney injury, Pyelonephritis, Cholecystitis, Peritonitis, Hepatic granulomatosis, Splenic ...	ORPHA:533
Cocaine Intoxication	Acute kidney injury, Increased circulating lactate dehydrogenase concentration, Elevated circulat...	ORPHA:90068
Orofaciodigital Syndrome Type 1	Multicystic kidney dysplasia, Elevated circulating hepatic transaminase concentration, Exocrine p...	ORPHA:2750
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Lymphopenia, T lymphocytopenia, Absent natural killer cells, Impaired lymphocyte transformation w...	OMIM:600802
Alkaptonuria	Aminoaciduria, Elevated urinary homogentisic acid, Dark urine, Black pigment gallstones, Nephroli...	ORPHA:56
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Proteinuria, Multiple bladder diverticula	ORPHA:2728
Immunodeficiency 55	Lymphopenia, Absent natural killer cells, Neutropenia	OMIM:617827
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Cholangitis, Cholecystitis, Liver abscess, Viral hepatitis	ORPHA:183675
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Renal agenesis, HbH hemoglobin, Hydronephrosis, Hypochromic microcytic anemia, Micropenis, Reduce...	OMIM:301040
Congenital Disorder Of Glycosylation, Type Iim	Neonatal hyperbilirubinemia, Vesicovaginal fistula, Ureteropelvic junction obstruction	OMIM:300896
Helsmoortel-Van Der Aa Syndrome	Enuresis nocturna, Enlarged kidney, Recurrent urinary tract infections	OMIM:615873
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Lipodystrophy, Familial Partial, Type 7	Hypercholesterolemia, Polyuria, Hypertriglyceridemia	OMIM:606721
Relapsing Polychondritis	Hepatitis, Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy	ORPHA:728
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia, Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Renal ...	OMIM:614748
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Myoglobinuria, Elevated circulating creatine kinase concentration	ORPHA:206549
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Hepatosplenomegaly, Cholelithiasis, Cholecystitis	OMIM:301066
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Enlarged kidney	OMIM:261740
Wagro Syndrome	Proteinuria, Nephroblastoma	OMIM:612469
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Absent natural killer cells, Lymphopenia, Hepatosplenomegaly, Impaired lymphocyte transformation ...	ORPHA:35078
Hemihyperplasia-Multiple Lipomatosis Syndrome	Enlarged kidney, Nephroblastoma	ORPHA:276280
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Functional abnormality of the bladder, Lymphopenia, Hepatosplenomegaly, Renal artery stenosis, Au...	ORPHA:391487
Hereditary Hemorrhagic Telangiectasia	Cholelithiasis, Hepatic failure, Portal hypertension, Cholecystitis, Hepatic arteriovenous malfor...	ORPHA:774
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Pneumocystosis	Abnormal neutrophil count	ORPHA:723
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Renal artery stenosis, Hyperlipidemia, Renal steatosis, ...	ORPHA:391665
Pierson Syndrome	Hyperechogenic kidneys, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis,...	OMIM:609049
Systemic Lupus Erythematosus	Leukopenia, Hematuria, Proteinuria, Lupus nephritis, Thrombocytopenia, Hemolytic anemia, Pyuria	ORPHA:536
Orofaciodigital Syndrome I	Hepatic fibrosis, Hepatic cysts, Proteinuria, Pancreatic cysts, Polycystic kidney dysplasia	OMIM:311200
Cockayne Syndrome B	Renal insufficiency, Splenomegaly, Proteinuria, Micropenis, Hepatomegaly	OMIM:133540
Cockayne Syndrome A	Renal insufficiency, Splenomegaly, Proteinuria, Micropenis, Hepatomegaly	OMIM:216400
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Hypokalemia, Decreased circulating cortisol level, Decreased circulating renin level	ORPHA:90795
Immunoglobulin A Vasculitis	Hematuria, Proteinuria, Glomerulopathy, Renal insufficiency	ORPHA:761
Cardiac-Urogenital Syndrome	Accessory spleen, Penoscrotal hypospadias, Micropenis, Patent urachus, Enlarged kidney	OMIM:618280
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Hypokalemia, Decreased circulating cortisol level, Increased circulating corticosterone level, De...	ORPHA:90793
Pure Mitochondrial Myopathy	Recurrent myoglobinuria	ORPHA:254854
Common Variable Immunodeficiency	Lymphopenia, Autoimmune thrombocytopenia, Hemolytic anemia, Splenomegaly	ORPHA:1572
Hyper-Igd Syndrome	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Elevated urine mevalonic acid level, Renal angiom...	OMIM:260920
Holoprosencephaly	Abnormality of the urinary system, Abnormality of the spleen, Hyponatremia, Proteinuria, Hypoplas...	ORPHA:2162
Simpson-Golabi-Behmel Syndrome, Type 1	Duplication of renal pelvis, Polysplenia, Splenomegaly, Nephroblastoma, Hydronephrosis, Renal cys...	OMIM:312870
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypokalemia, Elevated serum 11-deoxycortisol, Decreased circulating renin level	OMIM:202010
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:619769
Smith-Lemli-Opitz Syndrome	Abnormality of the gallbladder, Elevated circulating 7-dehydrocholesterol concentration	ORPHA:818
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Jaundice, Moderate albuminuria, Elevated circulating hepatic transaminase concentration	OMIM:614231
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Anemia, Lymphopenia	ORPHA:935
Williams Syndrome	Cholelithiasis, Renal insufficiency, Renal duplication, Multiple renal cysts, Renovascular hypert...	ORPHA:904
Proteus Syndrome	Long penis, Thymus hyperplasia, Splenomegaly, Enlarged polycystic ovaries, Renal cyst, Enlarged k...	ORPHA:744
Wolf-Hirschhorn Syndrome	Abnormality of the gallbladder, Abdominal situs inversus	ORPHA:280
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Abnormal penis morphology, Moderate albuminuria, Acute kidney injury, Elevated circulating hepati...	ORPHA:95455
Aymé-Gripp Syndrome	Proteinuria	ORPHA:1272
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Hydronephrosis, Moderate albuminuria	OMIM:619269
Pmm2-Cdg	Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Reduc...	ORPHA:79318
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Proteinuria	OMIM:616682
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Decreased circulating renin level, Hyponatremia, Decreased circulating cortisol level, Elevated s...	OMIM:201750

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 Abcc2

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 Abcc2.

No publications found that use IMPC mice or data for Abcc2.

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MGI Allele	Allele Type	Produced
Abcc2^{tm2b(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice
Abcc2^{tm2a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Abcc2^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Abcc2^{tm44698(L1L2_gt0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Abcc2^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	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: Abcc2 MGI:1352447

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Embryo LacZ

Adult LacZ

X-ray

Echo

X-ray

X-ray

Auditory Brain Stem Response

Human diseases caused by Abcc2 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data