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Gene: Lgmn MGI:1330838

Gene Summary

Name:

legumain

Synonyms:

preprolegumain, Prsc1, AEP

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
decreased body length	Lgmn^{tm1b(NCOM)Mfgc}	HOM	Early adult	6.07×10^-06
short tibia	Lgmn^{tm1b(NCOM)Mfgc}	HOM	Early adult	3.20×10^-10
decreased prepulse inhibition	Lgmn^{tm1b(NCOM)Mfgc}	HOM	Early adult	4.85×10^-06

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Gross Pathology and Tissue Collection

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Immunophenotyping

Panel B FCS file(s)

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Immunophenotyping

Panel A FCS file(s)

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Eye Morphology

Images Slit Lamp

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Histopathology

Images

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Human diseases caused by Lgmn 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 Lgmn (0 diseases)
Human diseases predicted to be associated with Lgmn (1653 diseases)

No human diseases associated to this gene by orthology or annotation.

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

Disease	Matching phenotypes	Source
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Anemia, Hemophagocytosis, Reduced natural killer cell activity, Hepatosplen...	OMIM:608898
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Increased circulating antibody level, Thrombocytopenia, Sp...	OMIM:615285
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Hyperbilirubinemia, Anemia of inadequate production, Reticulocytosis, Spl...	OMIM:237800
Cyanosis, Transient Neonatal	Hepatomegaly, Jaundice, Anemia, Reticulocytosis, Methemoglobinemia	OMIM:613977
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Anemia, Hemophagocytosis, Lymphadenopathy, Decreased circulating antibody l...	OMIM:613101
Diamond-Blackfan Anemia 19	Erythroid hypoplasia, Steroid-responsive anemia, Anemia	OMIM:618312
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Anemia, Hyperuricemia, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hyp...	OMIM:613092
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal salt wasting, Elevated circulating creatinine concentration, Anemia, Decreased glomerular f...	OMIM:174000
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Diamond-Blackfan Anemia-Like	Pure red cell aplasia, Steroid-responsive anemia	OMIM:617911
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin	ORPHA:231249
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,...	OMIM:615631
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Transient Erythroblastopenia Of Childhood	Transient erythroblastopenia, Anemia	OMIM:227050
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Low-molecular-weight proteinuria, Glomerular sclerosis, Hypercalciuria, Tubulointerstitial fibros...	OMIM:310468
Red Cell Phospholipid Defect With Hemolysis	Hyperbilirubinemia, Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Nephrotic Syndrome, Type 6	Tubulointerstitial fibrosis, Minimal change glomerulonephritis, Focal segmental glomerulosclerosi...	OMIM:614196
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
Syndactyly Type 4	Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin...	ORPHA:93405
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Dysgammaglobulinemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytope...	OMIM:308240
Glut1 Deficiency Syndrome 2	Reduced haptoglobin level, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Diamond-Blackfan Anemia 17	Anemia	OMIM:617409
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Glutamate-Cysteine Ligase Deficiency	Jaundice, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis	ORPHA:33574
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To	Reduced erythrocyte gamma-glutamyl cysteine synthetase activity, Hemolytic anemia, Reticulocytosis	OMIM:230450
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Increase...	OMIM:615559
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Wiskott-Aldrich Syndrome 2	Defective T cell proliferation, Thrombocytopenia, Decreased proportion of CD8-positive T cells, R...	OMIM:614493
Severe Combined Immunodeficiency, X-Linked	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating I...	OMIM:300400
Alport Syndrome 3B, Autosomal Recessive	Thin glomerular basement membrane, Nephrotic syndrome, Microscopic hematuria, Proteinuria, Albumi...	OMIM:620536
Nephronophthisis 3	Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Hepatic fibr...	OMIM:604387
Lipoprotein Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity	OMIM:611771
Harderoporphyria	Hepatomegaly, Reticulocytosis, Prolonged neonatal jaundice, Splenomegaly, Neonatal hyperbilirubin...	OMIM:618892
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Hepatomegaly, Choleli...	OMIM:266200
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo...	OMIM:201250
Autoinflammation With Infantile Enterocolitis	Increased circulating ferritin concentration, Anemia, Elevated circulating C-reactive protein con...	OMIM:616050
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Increased circulating antibody level, Pancytopenia, Lymphocytosis, Splenomegaly, De...	OMIM:614470
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia	OMIM:188740
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities	Hydronephrosis, Duplicated collecting system	OMIM:163850
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Hyperbilirubinemia, Nonspherocy...	OMIM:235700
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat...	OMIM:200700
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni...	OMIM:314050
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Syndactyly, Short tibia	OMIM:246570
Anemia, Congenital Dyserythropoietic, Type Iv	Reduced hematocrit, Anemia, Hepatomegaly, Reduced haptoglobin level, Hyperbilirubinemia, Anemia o...	OMIM:613673
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Decreased circulating total IgM, Hepatomegaly, Splenomegaly	OMIM:606445
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula...	ORPHA:3202
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Anemia, Abnormal lymph node morphology, Leukocytosis, Hepatosplenomegaly, Splenomeg...	OMIM:612840
Renal Failure, Progressive, With Hypertension	Elevated circulating creatinine concentration, Microscopic hematuria, Nephritis, Proteinuria, Sta...	OMIM:161900
Nephronophthisis 1	Polyuria, Nephronophthisis, Anemia, Hyposthenuria, Tubular basement membrane disintegration, Tubu...	OMIM:256100
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh...	OMIM:118651
Immunodeficiency 14B, Autosomal Recessive	Monocytosis, B lymphocytopenia, Leukocytosis, Decreased circulating IgG level, Neutrophilia, Decr...	OMIM:619281
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos...	ORPHA:846
Polycystic Kidney Disease 7	Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insuffic...	OMIM:620056
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno...	ORPHA:3203
Cryohydrocytosis	Reticulocytosis, Splenomegaly, Stomatocytosis, Hemolytic anemia, Pseudohyperkalemia	OMIM:185020
Hyperprolinemia Type 1	Prolinuria, Hyperprolinemia, Nephropathy, Proteinuria	ORPHA:419
Anemia, Sideroblastic, 4	Sideroblastic anemia, Abnormal erythrocyte morphology	OMIM:182170
Interstitial Nephritis, Karyomegalic	Nephronophthisis, Hematuria, Elevated circulating creatinine concentration, Increased blood urea ...	OMIM:614817
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia	Anemia	ORPHA:2802
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Nephrotic Syndrome, Type 17	Focal segmental glomerulosclerosis, Microscopic hematuria, Short stature, Proteinuria, Steroid-re...	OMIM:618176
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Hyperbilirubinemia, Macrocytic dyserythropoietic anemia, Anemia of inadequate produ...	OMIM:224120
Glomerulopathy With Fibronectin Deposits 2	Glomerular fibronectin deposits, Nephrotic syndrome, Microscopic hematuria, Proteinuria, Glomerul...	OMIM:601894
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Spherocytosis, Type 4	Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
Focal Segmental Glomerulosclerosis 7	Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal hypoplasia, Proteinuria, Stage 5 ch...	OMIM:616002
Reticuloendotheliosis, X-Linked	Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly	OMIM:312500
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Spherocytosis, Type 2	Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemol...	OMIM:616649
Immunodeficiency, Common Variable, 6	Enlarged kidney, Hepatomegaly, Complete or near-complete absence of specific antibody response to...	OMIM:613496
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol...	OMIM:300908
Osebold-Remondini Syndrome	Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra...	OMIM:112910
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria	OMIM:614199
Nephronophthisis 7	Stage 5 chronic kidney disease, Renal tubular atrophy, Nephronophthisis	OMIM:611498
Immunodeficiency 81	Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Reduced natur...	OMIM:619374
Glomerulopathy With Fibronectin Deposits 1	Glomerular fibronectin deposits, Glomerulopathy, Nephropathy, Nephrotic syndrome, Microscopic hem...	OMIM:137950
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr...	OMIM:194380
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemol...	OMIM:182900
Proteinuria, Chronic Benign	Renal insufficiency, Proteinuria, Albuminuria	OMIM:618884
Nephronophthisis 4	Polyuria, Nephronophthisis, Anemia, Tubulointerstitial fibrosis, Growth delay, Renal tubular atro...	OMIM:606966
Primary Myelofibrosis	Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Extramedullary hematopoiesis, Leukocytosis, ...	ORPHA:824
Nephrotic Syndrome, Type 7	Acute kidney injury, Hemolytic-uremic syndrome, Podocyte foot process effacement, Nephrotic syndr...	OMIM:615008
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Impaired lymphocyte transformation with phytohemagglutinin, Minimal change glomerulonephritis, De...	OMIM:617006
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Anemia, Abnormal hemoglobin	ORPHA:3319
Nephrotic Syndrome, Type 23	Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Podocyte foot process effa...	OMIM:619201
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly	OMIM:611490
Hereditary Amyloidosis With Primary Renal Involvement	Renal interstitial amyloid deposits, Decreased HDL cholesterol concentration, Hepatomegaly, Anemi...	ORPHA:85450
Acromesomelic Dysplasia, Grebe Type	Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl...	ORPHA:2098
Nephronophthisis 20	Nephronophthisis, Vesicoureteral reflux, Renal cyst, Stage 5 chronic kidney disease, Renal insuff...	OMIM:617271
Focal Segmental Glomerulosclerosis 6	Hematuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal tubular atrophy, Protein...	OMIM:614131
Immunoerythromyeloid Hypoplasia	Decreased circulating IgG level, Erythroid hypoplasia	OMIM:242880
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Anemia, Hypochromia, Sideroblastic anemia, Decreased mean corpuscular volume, Elevated transferri...	OMIM:205950
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, P...	OMIM:185000
Idiopathic Non-Lupus Full-House Nephropathy	Acute kidney injury, Glomerular C3 deposition, Abnormal glomerular mesangium morphology, Nephroti...	ORPHA:567544
Nephrotic Syndrome, Type 18	Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmenta...	OMIM:618177
Nephrotic Syndrome, Type 19	Stage 3 chronic kidney disease, Steroid-resistant nephrotic syndrome, Proteinuria, Focal segmenta...	OMIM:618178
Nephrotic Syndrome, Type 20	Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmenta...	OMIM:301028
Focal Segmental Glomerulosclerosis 8	Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis	OMIM:616032
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration	OMIM:619398
Nephronophthisis 13	Nephronophthisis, Glomerular sclerosis, Intrahepatic bile duct dilatation, Mild proteinuria, Glom...	OMIM:614377
Fanconi Renotubular Syndrome 5	Hypophosphatemic rickets, Tubulointerstitial fibrosis, Glycosuria, Proteinuria, Hypophosphatemia,...	OMIM:618913
Nail-Patella-Like Renal Disease	Glomerulopathy, Microscopic hematuria, Short stature, Proteinuria, Renal insufficiency	ORPHA:2613
Bardet-Biedl Syndrome 10	Obesity, Renal insufficiency, Renal cyst	OMIM:615987
Autosomal Dominant Polycystic Kidney Disease	Enlarged kidney, Elevated circulating creatinine concentration, Hematuria, Decreased glomerular f...	ORPHA:730
Galactosemia I	Increased level of galactitol in red blood cells, Cirrhosis, Hepatomegaly, Galactosuria, Increase...	OMIM:230400
Senior-Loken Syndrome 5	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:609254
C3 Glomerulopathy	Acute kidney injury, Elevated circulating creatinine concentration, Hematuria, Paraproteinemia, N...	ORPHA:329918
Gollop-Wolfgang Complex	Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ...	ORPHA:1986
RCAD (renal cysts and diabetes)	Abnormality of the liver, Multiple renal cysts	DECIPHER:47
Spastic Paraplegia-Nephritis-Deafness Syndrome	Nephropathy, Proteinuria, Severe short stature	ORPHA:2820
Focal Segmental Glomerulosclerosis 2	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Stag...	OMIM:603965
Senior-Loken Syndrome 1	Polyuria, Nephronophthisis, Elevated circulating creatinine concentration, Anemia, Tubulointersti...	OMIM:266900
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Medullary nephrocalcinosis, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Short sta...	OMIM:611555
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas...	OMIM:133180
Acheiropody	Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to...	OMIM:200500
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hyperbilirubinemia, Reduced erythrocyte adenosine triphosphate concentration, Reticulocytosis, Er...	OMIM:301083
Primary Membranoproliferative Glomerulonephritis	Acute kidney injury, Glomerular subendothelial electron-dense deposits, Nephrotic syndrome, Micro...	ORPHA:54370
Nephrotic Syndrome, Type 2	Hyperlipidemia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Hypoalbumine...	OMIM:600995
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Anemia, Hyperuricemia, Focal segmental glomerulosclerosis, Renal cyst, Short stature, Chronic kid...	OMIM:617056
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, R...	OMIM:249700
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Hypertriglyceridemia, Abnormal circulating cytokine concentration, Jau...	ORPHA:540
Diamond-Blackfan Anemia 18	Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia	OMIM:618310
Nephrotic Syndrome, Type 9	Glomerular sclerosis, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbuminemia, Steroid-r...	OMIM:615573
Tn Polyagglutination Syndrome	Abnormal erythrocyte morphology	OMIM:300622
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Low-molecular-weight proteinuria, Hypercalciuria, Hyposthenuria, Proximal tubulopathy, Beta 2-mic...	OMIM:308990
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Diamond-Blackfan Anemia 13	Normocytic anemia, Elevated red cell adenosine deaminase activity	OMIM:615909
Sitosterolemia 1	Chronic hemolytic anemia, Giant platelets, Anemia, Reduced haptoglobin level, Elevated circulatin...	OMIM:210250
Beta-Thalassemia Intermedia	Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Abnormality of iron homeostasis, Cho...	ORPHA:231222
Focal Segmental Glomerulosclerosis 10	Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chron...	OMIM:256020
Hereditary Spherocytosis	Jaundice, Anemia, Hepatomegaly, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp...	ORPHA:822
Alpha-Heavy Chain Disease	Dysgammaglobulinemia, Hepatomegaly, Anemia, Lymphadenopathy, Hypocalcemia, Ascites, Splenomegaly	ORPHA:100025
Polycystic Kidney Disease 5	Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys, Hepatosplenomegaly, Reduced...	OMIM:617610
Dent Disease	Low-molecular-weight proteinuria, Hematuria, Renal phosphate wasting, Tubulointerstitial fibrosis...	ORPHA:1652
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Polycystic kidne...	OMIM:263200
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hypokalemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Hemolytic an...	OMIM:611590
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Nephrotic Syndrome, Type 15	Minimal change glomerulonephritis, Proteinuria, Hypoalbuminemia, Steroid-resistant nephrotic synd...	OMIM:617609
Focal Segmental Glomerulosclerosis 1	Anemia, Hyperlipidemia, Ascites, Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Prot...	OMIM:603278
Nephronophthisis 12	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613820
Immunodeficiency 52	Defective T cell proliferation, Lymphadenopathy, Abnormal natural killer cell count, Decreased ci...	OMIM:617514
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating antibody level, Splenomegaly, Abnorm...	ORPHA:100024
Immunodeficiency 20	Reduced natural killer cell count, Reduced natural killer cell activity	OMIM:615707
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine, Microangiopathic hemolytic anemia, Thrombocytopenia, Reticulocytosis	ORPHA:54057
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Splenomegaly, Hypersplenism	OMIM:183350
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease	Cholestatic liver disease, Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morph...	OMIM:602114
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypertriglyceridemia, Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Pancytopenia, Lymphadenop...	OMIM:603553
2p15-16.1 microdeletion syndrome	Hydronephrosis	DECIPHER:70
Nephrotic Syndrome, Type 16	Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria	OMIM:617783
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal carpal morphology, Fibular hypoplasia,...	OMIM:127300
Iga Nephropathy, Susceptibility To, 2	Hematuria, Nephritis, Proteinuria, IgA deposition in the glomerulus, Stage 5 chronic kidney disease	OMIM:613944
Sickle Cell Anemia	Chronic hemolytic anemia, Jaundice, Iron deficiency anemia, Cholelithiasis, Increased mean corpus...	ORPHA:232
Lethal Faciocardiomelic Dysplasia	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Radial club hand, Sandal ga...	ORPHA:1972
Focal Segmental Glomerulosclerosis 5	Microscopic hematuria, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomeruloscle...	OMIM:613237
Phosphoglycerate Kinase 1 Deficiency	Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis	OMIM:300653
Iga Nephropathy, Susceptibility To, 3	Hematuria, Proteinuria, Mesangial hypercellularity, IgA deposition in the glomerulus, Stage 5 chr...	OMIM:616818
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Hematuria, Proteinuria, Focal segmental glomerulosclerosis, Renal insufficiency	OMIM:607832
Immunodeficiency 69	Increased circulating ferritin concentration, Anemia, Hemophagocytosis, Pancytopenia, Leukocytosi...	OMIM:618963
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Hepatomegaly, Increased serum bile acid concentration, Hyperbilirubinemia, Cholestasis,...	OMIM:620010
Renal Dysplasia, Cystic, Susceptibility To	Vesicoureteral reflux, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Cystic renal...	OMIM:601331
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
Coach Syndrome 3	Nephronophthisis, Anemia, Portal fibrosis, Renal interstitial inflammation, Renal tubular atrophy...	OMIM:619113
Rh Deficiency Syndrome	Jaundice, Reduced haptoglobin level, Macrocytic anemia, Hyperbilirubinemia, Hypochromia, Spherocy...	ORPHA:71275
Alport Syndrome	Thin glomerular basement membrane, Hematuria, Renal glomerular foam cells, Glomerular C3 depositi...	ORPHA:63
Hematuria, Benign Familial, 2	Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology	OMIM:620320
Congenital Primary Megaureter	Congenital megaureter, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithiasis...	ORPHA:617
Renal Hypodysplasia/Aplasia 3	Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Renal dysplasia, Multicystic kidney dyspla...	OMIM:617805
Glycogen Storage Disease Vii	Jaundice, Cholelithiasis, Hyperuricemia, Elevated circulating creatine kinase concentration, Reti...	OMIM:232800
Mesomelic Dysplasia, Savarirayan Type	Fibular aplasia, Fibular hypoplasia, Abnormal foot morphology, Anterior tibial bowing, Dislocated...	OMIM:605274
Infundibulopelvic Dysgenesis	Microscopic hematuria, Multicystic kidney dysplasia	OMIM:600989
Interstitial Pneumonitis, Desquamative, Familial	Tubulointerstitial fibrosis, Failure to thrive	OMIM:263000
Glycogen Storage Disease Iv	Cirrhosis, Tubulointerstitial fibrosis, Ascites, Portal hypertension, Failure to thrive, Hepatosp...	OMIM:232500
Lipodystrophy, Partial, Acquired, Susceptibility To	Abnormal circulating lipid concentration, Hematuria, Nephrotic syndrome, Proteinuria, Membranopro...	OMIM:608709
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Hydronephrosis, Abnormality of the urinary system	ORPHA:2669
Acute Erythroid Leukemia	Anemia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocellularity, Leukopenia, Monoclonal i...	ORPHA:318
Hereditary Elliptocytosis	Jaundice, Cholelithiasis, Hyperbilirubinemia, Reticulocytosis, Poikilocytosis, Prolonged neonatal...	ORPHA:288
Isobutyryl-Coa Dehydrogenase Deficiency	Anemia, Decreased circulating carnitine concentration	OMIM:611283
Congenital Atransferrinemia	Anemia, Abnormality of the pancreas	ORPHA:1195
Senior-Loken Syndrome	Nephronophthisis, Short stature, Congenital hepatic fibrosis, Chronic kidney disease, Stage 5 chr...	ORPHA:3156
Bardet-Biedl Syndrome 16	Renal cyst, Renal agenesis, Short stature, Obesity, Renal dysplasia, Stage 5 chronic kidney disea...	OMIM:615993
Rh-Null, Amorph Type	Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Stomatocytosis, Hemolytic anemia	OMIM:617970
Preeclampsia/Eclampsia 1	Intrauterine growth retardation, Thrombocytopenia, Proteinuria	OMIM:189800
Léri-Weill Dyschondrosteosis	Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Mesomelia, Abnormal epiph...	ORPHA:240
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Thromboc...	OMIM:603552
Coenzyme Q10 Deficiency, Primary, 8	Postnatal growth retardation, Small for gestational age, Abnormal renal corticomedullary differen...	OMIM:616733
Renal Caliceal Diverticuli-Deafness Syndrome	Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Hydronephrosis, A...	ORPHA:2838
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio...	OMIM:616860
Trimethylaminuria	Anemia, Splenomegaly, Neutropenia	OMIM:602079
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Decreased liver function, Anemia, Increased mean corpuscular volume, Ascites, Sideroblastic anemi...	OMIM:617021
Atypical Hemolytic Uremic Syndrome	Acute kidney injury, Hematuria, Thrombocytopenia, Proteinuria, Microangiopathic hemolytic anemia	ORPHA:2134
Polycythemia Vera	Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro...	OMIM:263300
Galloway-Mowat Syndrome 8	Hematuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal tubular atrophy, Protein...	OMIM:618349
Myelofibrosis	Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop...	OMIM:254450
Immunodeficiency 115 With Autoinflammation	Intestinal lymphangiectasia, Anemia, Partial absence of specific antibody response to Haemophilus...	OMIM:620632
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope...	ORPHA:444463
Blount Disease	Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the proximal tibial epiphysi...	ORPHA:2768
Joubert Syndrome 4	Abnormal renal medulla morphology, Stage 5 chronic kidney disease, Nephronophthisis, Renal insuff...	OMIM:609583
Ring Chromosome 8 Syndrome	Hydronephrosis, Abnormality of the ureter	ORPHA:1450
Amyloidosis, Familial Visceral	Hepatomegaly, Hematuria, Cholestasis, Nephrotic syndrome, Proteinuria, Renal amyloidosis, Splenom...	OMIM:105200
Beta-Thalassemia	Hepatomegaly, Anemia, Abnormality of iron homeostasis, Cholelithiasis, Thrombocytopenia, Splenome...	ORPHA:848
Nephronophthisis 19	Nephronophthisis, Hepatomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferation, Hyperecho...	OMIM:616217
Nephronophthisis 9	Postnatal growth retardation, Polyuria, Nephronophthisis, Anemia, Renal cortical microcysts, Stag...	OMIM:613824
Niemann-Pick Disease, Type B	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Sea-blue histiocytosis, Anemia, He...	OMIM:607616
Elliptocytosis 2	Elliptocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis	OMIM:130600
Renal Hypoplasia	Abnormal renal tubule morphology, Unilateral renal agenesis, Recurrent urinary tract infections, ...	ORPHA:93101
Nephronophthisis-Like Nephropathy 2	Polyuria, Elevated circulating creatinine concentration, Tubular luminal dilatation, Periglomerul...	OMIM:619468
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Elevated circulating creatine kinase concentration, Stage 5 chronic kidney disease, Proteinuria, ...	OMIM:614455
Congenital Anomalies Of Kidney And Urinary Tract 3	Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl...	OMIM:618270
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Elevated circulating creatinine concentration, Nephropathy, Decreased glomerular filtration rate,...	OMIM:242530
Familial Pseudohyperkalemia	Hyperkalemia, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stom...	ORPHA:90044
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Coenzyme Q10 Deficiency, Primary, 6	Nephrolithiasis, Focal segmental glomerulosclerosis, Diffuse mesangial sclerosis, Proteinuria, St...	OMIM:614650
Laurin-Sandrow Syndrome	Triphalangeal thumb, Absent tibia, Fibular duplication, Broad foot, Hand polydactyly, Patellar ap...	OMIM:135750
Hemochromatosis, Type 2B	Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Increas...	OMIM:613313
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Renal salt wasting, Polyuria, Decreased glomerular filtration rate, Hyperchloriduria, Hypokalemia...	OMIM:602522
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Anemia, Thrombocytosis, Increased circulating antibody level, Congenital agranulocytosis, Acute m...	OMIM:202700
Nephrotic Syndrome, Type 3	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Hypoalbuminemia, Diffuse mes...	OMIM:610725
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis	ORPHA:713
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly	OMIM:206400
Igg4-Related Kidney Disease	Enlarged kidney, Sclerosing cholangitis, Increased circulating IgG4 level, Elevated circulating c...	ORPHA:449395
Fibular Hemimelia	Proximal femoral focal deficiency, Abnormal lower limb bone morphology, Tibial bowing, Increased ...	ORPHA:93323
Fibronectin Glomerulopathy	Glomerulopathy, Abnormal glomerular mesangium morphology, Nephrotic syndrome, Microscopic hematur...	ORPHA:84090
Hypouricemia, Renal, 1	Acute kidney injury, Renal tubular epithelial necrosis, Hypouricemia, Uric acid nephrolithiasis, ...	OMIM:220150
Adenine Phosphoribosyltransferase Deficiency	Hematuria, Nephrolithiasis, Urolithiasis, Oliguria, Elevated circulating creatinine concentration...	OMIM:614723
Preeclampsia	Abnormality of the kidney, Acute kidney injury, Abnormality of the hepatic vasculature, Thrombocy...	ORPHA:275555
Nephronophthisis 18	Nephronophthisis, Portal fibrosis, Cholestasis, Thickened glomerular basement membrane, Renal tub...	OMIM:615862
Immunodeficiency 27A	Anemia, Lymphadenopathy, Increased circulating IgG level, Leukocytosis, Increased circulating IgM...	OMIM:209950
Nephronophthisis 16	Enlarged kidney, Nephronophthisis, Periportal fibrosis, Polycystic kidney dysplasia, Cholestasis,...	OMIM:615382
Nephronophthisis 2	Hyperkalemia, Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Elevated c...	OMIM:602088
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Defective T cell proliferation, Cervical lymphadenopathy, Mediastina...	OMIM:618534
Macdermot-Winter Syndrome	Intrauterine growth retardation, Hydronephrosis	OMIM:247990
Cernunnos-Xlf Deficiency	Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Thrombocytope...	ORPHA:169079
Acrocapitofemoral Dysplasia	Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ...	OMIM:607778
Congenital Megacalycosis	Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph...	ORPHA:93109
Eosinophilia, Familial	Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis	OMIM:131400
Agammaglobulinemia 8B, Autosomal Recessive	Anemia, Decreased circulating IgE, Pancytopenia, B lymphocytopenia, Increased proportion of effec...	OMIM:619824
Bone Marrow Failure Syndrome 2	Bone marrow hypocellularity, Thrombocytopenia, Anemia, Leukopenia	OMIM:615715
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Hepatomegaly, Iron deficiency anem...	OMIM:601859
Iga Nephropathy, Susceptibility To, 1	Hematuria, Nephritis, Proteinuria, IgA deposition in the glomerulus, Stage 5 chronic kidney disease	OMIM:161950
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Chronic tubulointerstitial nephritis, Elevated circulating creatinine concentration, Hepatomegaly...	OMIM:614376
Nephronophthisis	Anemia	ORPHA:655
Nephronophthisis 15	Obesity, Nephronophthisis	OMIM:614845
Hanac Syndrome	Hematuria, Multiple renal cysts, Renal insufficiency	ORPHA:73229
Beta-Thalassemia Major	Anisopoikilocytosis, Cirrhosis, Jaundice, Hypochromic microcytic anemia, Hepatomegaly, Abnormalit...	ORPHA:231214
Thanatophoric Dysplasia, Glasgow Variant	Anemia, Hepatosplenomegaly	OMIM:273680
Dominant Beta-Thalassemia	Cirrhosis, Jaundice, Hypochromic microcytic anemia, Abnormality of iron homeostasis, Decreased me...	ORPHA:231226
Senior-Loken Syndrome 4	Polyuria, Stage 5 chronic kidney disease, Nephronophthisis, Anemia	OMIM:606996
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis	OMIM:266120
Chromosome 5Q Deletion Syndrome	Anemia of inadequate production, Erythroid hypoplasia, Refractory macrocytic anemia	OMIM:153550
Hepatorenocardiac Degenerative Fibrosis	Enlarged kidney, Jaundice, Tubular luminal dilatation, Cirrhosis, Hepatocellular carcinoma, Renal...	OMIM:619902
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi...	ORPHA:75564
Dent Disease 2	Low-molecular-weight proteinuria, Hypercalciuria, Proximal tubulopathy, Elevated circulating crea...	OMIM:300555
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Nephrotic syndrome, Hematuria, Proteinuria, Membranoproliferative glomerulonephritis	OMIM:613913
Fanconi Renotubular Syndrome 3	Low-molecular-weight proteinuria, Growth delay, Glycosuria, Hyperphosphaturia, Short stature, Ele...	OMIM:615605
Oligomeganephronia	Abnormal nephron morphology, Elevated circulating creatinine concentration, Decreased glomerular ...	ORPHA:2260
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni...	OMIM:613011
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Increased circulating IgG...	OMIM:619220
Endove Syndrome, Limb-Only Type	Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ...	OMIM:619217
Imerslund-Grasbeck Syndrome 2	Anemia, Recurrent urinary tract infections, Megaloblastic anemia, Growth delay, Proteinuria, Rena...	OMIM:618882
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr...	OMIM:133100
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgA ...	OMIM:616452
Osteopetrosis, Autosomal Recessive 2	Anemia, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Extramedullary hematopoiesis	OMIM:259710
Senior-Loken Syndrome 7	Nephronophthisis	OMIM:613615
Alpha-Thalassemia Myelodysplasia Syndrome	HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio	OMIM:300448
Neutropenia, Severe Congenital, 9, Autosomal Dominant	3-Methylglutaconic aciduria, Splenomegaly	OMIM:619813
Rosaï-Dorfman Disease	Dysgammaglobulinemia, Anemia, Lymphadenopathy	ORPHA:158014
Autoimmune Lymphoproliferative Syndrome	Increased circulating antibody level, Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity...	ORPHA:3261
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Fibular hypoplasia, Absent thumb, Aplasia/Hypoplasia of the radius, Short...	OMIM:612447
Coenzyme Q10 Deficiency, Primary, 3	Nephrotic syndrome, Hypoalbuminemia, Proteinuria	OMIM:614652
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Decreased circulating antibody level, Abnormal plat...	ORPHA:2585
Heinz Body Anemias	Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies	OMIM:140700
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated hepatic iron co...	OMIM:615234
Immunodeficiency 102	Hepatomegaly, Anemia, Increased circulating interleukin 6 concentration, Decreased circulating to...	OMIM:301082
Lecithin:Cholesterol Acyltransferase Deficiency	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Normochromic anemia, Proteinuria, ...	OMIM:245900
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Schnitzler Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Increased circulating IgM level, Splenomegaly	ORPHA:37748
Al Amyloidosis	Renal interstitial amyloid deposits, Abnormality of the kidney, Hepatomegaly, Anemia, Increased c...	ORPHA:85443
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Chronic hemolytic anemia, Hepatomegaly, Microvesicular hepatic steatosis, Leukocytosis, Reticuloc...	OMIM:618278
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypocholesterolemia, Hypersplenism	OMIM:610539
Aapoaiv Amyloidosis	Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Glomerular sclerosis, Hyp...	ORPHA:439232
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c...	ORPHA:35858
Nephrotic Syndrome, Type 1	Glomerular sclerosis, Hypoproteinemia, Hyperlipidemia, Congenital nephrotic syndrome, Growth dela...	OMIM:256300
Immunodeficiency 109 With Lymphoproliferation	Hypertriglyceridemia, Pancytopenia, Complete or near-complete absence of specific antibody respon...	OMIM:620282
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Acute kidney injury, Abnormal circulating lipid concentration, Hypercholest...	ORPHA:567548
Rhyns Syndrome	Abnormality of the liver, Nephronophthisis, Multicystic kidney dysplasia	ORPHA:140976
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
Galloway-Mowat Syndrome 2, X-Linked	Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Short ...	OMIM:301006
Congenital Anomalies Of Kidney And Urinary Tract 2	Hydroureter, Congenital megaureter, Renal hypoplasia, Ureteropelvic junction obstruction, Hydrone...	OMIM:143400
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Acute kidney injury, Elevated circulating creatinine concentration, Hematuria, Hemolytic-uremic s...	OMIM:612925
Brachydactyly, Type A1, C	Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge...	OMIM:615072
Arima Syndrome	Polyuria, Cirrhosis, Nephronophthisis, Hematuria, Hepatomegaly, Anemia, Tubulointerstitial fibros...	OMIM:243910
Heme Oxygenase 1 Deficiency	Hepatomegaly, Increased circulating interleukin 6 concentration, Hematuria, Elevated circulating ...	OMIM:614034
Adenylate Kinase Deficiency, Hemolytic Anemia Due To	Reduced erythrocyte adenylate kinase activity, Hemolytic anemia	OMIM:612631
Immunodeficiency 32B	Hepatomegaly, Anemia, Monocytopenia, Abnormal circulating IgG level, Neutrophilia, Thrombocytopen...	OMIM:226990
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Abnormal T cell morphology, Nephrotic syndrome, Mucopolysacchariduria, Macronodular cirrhosis, Sh...	OMIM:215250
Glutathione Peroxidase Deficiency	Compensated hemolytic anemia, Neonatal hyperbilirubinemia, Heinz bodies	OMIM:614164
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Minimal change glomerulonephritis, Hyperlipidemia, Ascites, Focal segmental glomerulosclerosis, M...	ORPHA:567546
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Abnormal fibula morphology, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Aplasia/...	ORPHA:988
Nephronophthisis 14	Polycystic kidney dysplasia, Nephronophthisis	OMIM:614844
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly	OMIM:228250
Hereditary Renal Hypouricemia	Abnormal renal tubule morphology, Acute kidney injury, Hematuria, Decreased glomerular filtration...	ORPHA:94088
Nephrotic Syndrome, Type 22	Glomerular sclerosis, Nephrotic range proteinuria, Hypoproteinemia, Podocyte foot process effacem...	OMIM:619155
Congenital Bile Acid Synthesis Defect Type 2	Jaundice, Giant cell hepatitis, Hepatomegaly, Elevated circulating hepatic transaminase concentra...	ORPHA:79303
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Delayed puberty, Abnormality of the kidney, Cirrhosis, Hepatomegaly, Portal fibrosis, Increased h...	ORPHA:369
Galloway-Mowat Syndrome 6	Decreased body weight, Focal segmental glomerulosclerosis, Nephrotic syndrome, Short stature, Gro...	OMIM:618347
Renal Hypoplasia, Bilateral	Hyperkalemia, Anemia, Decreased glomerular filtration rate, Vesicoureteral reflux, Beta 2-microgl...	ORPHA:97362
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Hypospadias, Recurrent urinary tract infections, Neurogenic bladder, Vesicoureteral reflux, Failu...	OMIM:191800
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anemia, Anuria, Increased blood urea n...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anemia, Anuria, Increased blood urea n...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anemia, Anuria, Increased blood urea n...	OMIM:612926
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Leishmaniasis	Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating antibody level, Pancytopenia, Abnorm...	ORPHA:507
Thrombotic Thrombocytopenic Purpura, Hereditary	Jaundice, Reticulocytosis, Increased blood urea nitrogen, Prolonged neonatal jaundice, Thrombocyt...	OMIM:274150
Nephrotic Syndrome, Type 8	Thin glomerular basement membrane, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Hypoa...	OMIM:615244
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent...	OMIM:612576
Refractory Anemia	Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Anemia of inadeq...	ORPHA:98826
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Mediastinal lymphadenopathy, Lymphadenopat...	OMIM:300853
Galloway-Mowat Syndrome 5	Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Proteinuria, Focal segmenta...	OMIM:617731
Malaria	Hyperbilirubinemia, Thrombocytopenia, Anemia, Elevated circulating C-reactive protein concentration	ORPHA:673
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anemia, Anuria, Increased blood urea n...	OMIM:612924
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia	OMIM:620534
Acquired Partial Lipodystrophy	Glomerulopathy, Lymphocytosis, Microscopic hematuria, Proteinuria, Hepatic steatosis	ORPHA:79087
Immunodeficiency 46	Decreased circulating antibody level, Anemia, Intermittent thrombocytopenia, Neutropenia	OMIM:616740
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphadenopathy, Increased circulating antibody lev...	ORPHA:169154
X-Linked Sideroblastic Anemia	Elevated circulating hepatic transaminase concentration, Abnormality of iron homeostasis, Anemia,...	ORPHA:75563
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Acute Myelomonocytic Leukemia	Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis	ORPHA:517
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Caspase 8 Deficiency	Reduced CD95-induced lymphocyte apoptosis, Lymphadenopathy, Complete or near-complete absence of ...	OMIM:607271
Jeune Syndrome	Nephronophthisis, Nephropathy, Short stature, Abnormality of the liver, Renal insufficiency	ORPHA:474
Orofaciodigital Syndrome Type 10	Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Short 4th fin...	ORPHA:2756
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Hypocalcemia, Impaired urinary acidification, Nephrolithiasis, Nephrocalcinosis, Dis...	OMIM:179800
Bone Marrow Failure Syndrome 4	Anemia, Decreased circulating antibody level, Bone marrow hypocellularity, Thrombocytopenia, Leuk...	OMIM:618116
Immunodeficiency 48	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammaglobulinemi...	OMIM:269840
Congenital Nephrotic Syndrome, Finnish Type	Abnormal renal tubule morphology, Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, ...	ORPHA:839
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Acute kidney injury, Renal insufficiency, Hyperuricemia, Dysuria, Uric acid nephrolithiasis, Macr...	ORPHA:79233
Galactosemia Iii	Jaundice, Hepatomegaly, Galactosuria, Hypergalactosemia, Failure to thrive, Splenomegaly, Aminoac...	OMIM:230350
Aicardi-Goutieres Syndrome 6	Hepatomegaly, Thrombocytopenia, Splenomegaly, Increased circulating Interferon-alpha concentratio...	OMIM:615010
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Elevated circulating creatinine concentration, Jaundice, Hepatomegaly, Hypokalemia, Recurrent uri...	OMIM:613095
Immunodeficiency 92	Hepatomegaly, Abnormal B cell proliferation, Cholangitis, Sclerosing cholangitis, Decreased propo...	OMIM:619652
Indomethacin Embryofetopathy	Abnormal renal tubule morphology, Nephropathy, Multicystic kidney dysplasia, Renal insufficiency	ORPHA:1909
Autoinflammatory-Pancytopenia Syndrome	Cholestatic liver disease, Hemophagocytosis, Pancytopenia, Growth delay, Failure to thrive, Hepat...	OMIM:619858
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Increased serum bile acid concen...	OMIM:616278
Anemia, Hypochromic Microcytic, With Iron Overload 1	Anemia, Hypochromia, Elevated hepatic iron concentration, Increased circulating iron concentratio...	OMIM:206100
Erythrocytosis, Familial, 4	Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit	OMIM:611783
Spondyloepimetaphyseal Dysplasia, Missouri Type	Small epiphyses, Flared metaphysis, Knee osteoarthritis, Femoral bowing, Tibial bowing, Short low...	ORPHA:93356
X-Linked Intellectual Disability, Schimke Type	Short stature, Failure to thrive in infancy, Hydronephrosis, Vesicoureteral reflux	ORPHA:85285
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Delayed puberty, Enlarged kidney, Hepatocellular adenoma, Tubulointerstitia...	ORPHA:79259
Renal Tubular Dysgenesis	Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts, Nephropathy	ORPHA:3033
Cat-Eye Syndrome	Renal hypoplasia/aplasia, Short stature, Hydronephrosis, Abnormal localization of kidney, Intraut...	ORPHA:195
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Cholestatic liver disease, Jaundice, Giant cell hepatitis, Hepatomegaly, Renal tubular acidosis, ...	OMIM:613404
Nephrotic Syndrome, Type 11	Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal ...	OMIM:616730
Renal Dysplasia	Pelvic mass, Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary inco...	ORPHA:93108
Aa Amyloidosis	Abnormality of the kidney, Enlarged kidney, Acute kidney injury, Hepatomegaly, Cholestasis, Nephr...	ORPHA:85445
Fetal Parvovirus Syndrome	Thrombocytopenia, Anemia, Ascites	ORPHA:295
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Anemia, Impaired platelet aggregation, Thrombocytopenia, ...	OMIM:187800
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Increased total bilirubin, Ascites, Renal cyst, Polycystic liver disease	OMIM:174050
Hereditary Xanthinuria	Acute kidney injury, Hematuria, Xanthinuria, Hypouricemia, Recurrent urinary tract infections, De...	ORPHA:3467
Hinman Syndrome	Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Hydronephrosis, Renal insuff...	ORPHA:84085
Immunodeficiency 105	Decreased circulating total IgM, Impaired lymphocyte transformation with phytohemagglutinin, Panc...	OMIM:619924
Diamond-Blackfan Anemia 9	Anemia	OMIM:613308
Cryoglobulinemia, Familial Mixed	Hematuria, Abnormal renal physiology, Proteinuria, Chronic kidney disease, Elevated circulating c...	OMIM:123550
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Decreased glomerular filtration rate, Hyperuricemia, Nephropathy, Renal tubular atrophy, Nephriti...	OMIM:162000
Diamond-Blackfan Anemia 3	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:610629
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, T...	OMIM:269600
Erythrocytosis, Familial, 5	Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit	OMIM:617907
Genetic Steroid-Resistant Nephrotic Syndrome	Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Proteinuria, Peritonitis, ...	ORPHA:656
Bardet-Biedl Syndrome 19	Renal insufficiency, Renal hypoplasia, Obesity, Hydronephrosis, Hepatic steatosis	OMIM:615996
Diamond-Blackfan Anemia 16	Anemia	OMIM:617408
Papillorenal Syndrome	Elevated circulating creatinine concentration, Hematuria, Horseshoe kidney, Vesicoureteral reflux...	OMIM:120330
Ocular Motor Apraxia	Nephronophthisis	OMIM:257550
Fanconi Anemia, Complementation Group O	Renal cyst, Short stature, Chromosome breakage, Hydronephrosis, Stage 5 chronic kidney disease	OMIM:613390
Atransferrinemia	Abnormality of the liver, Hypochromic anemia, Atransferrinemia	OMIM:209300
Bone Marrow Failure Syndrome 6	Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Bone marrow hypocellulari...	OMIM:618849
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Hepatomegaly, Iron deficiency anem...	OMIM:603909
Lcat Deficiency	Hypertriglyceridemia, Acute kidney injury, Decreased HDL cholesterol concentration, Decreased glo...	ORPHA:650
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hyperlipidemia, Reticulocytosis, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathi...	OMIM:235400
Senior-Loken Syndrome 9	Nephronophthisis, Cholestasis, Hepatic fibrosis, Obesity, Stage 5 chronic kidney disease, Tubuloi...	OMIM:616629
Urofacial Syndrome 2	Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Urinary urgency, Hydronephro...	OMIM:615112
Adenine Phosphoribosyltransferase Deficiency	Acute kidney injury, Recurrent urinary tract infections, Dysuria, Uric acid nephrolithiasis, Neph...	ORPHA:976
Osteopetrosis, Autosomal Recessive 8	Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly	OMIM:615085
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly	OMIM:259730
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Anemia, Hypochromic microcytic anemia, Pancytopenia, Hypocalcemia, Hyperbilirubinem...	OMIM:259720
Hermansky-Pudlak Syndrome 2	Absent platelet dense granules, Hepatomegaly, Impaired ADP-induced platelet aggregation, Hepatosp...	OMIM:608233
Cednik Syndrome	Nephrotic syndrome, Proteinuria, Short stature	ORPHA:66631
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Diamond-Blackfan Anemia 4	Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia, Neutropenia	OMIM:612527
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Anemia, Hypercalcemia, Proteinuria, Renal insufficiency	ORPHA:2668
Joubert Syndrome 16	Nephronophthisis, Renal cyst	OMIM:614465
Bleeding Disorder, Platelet-Type, 19	Macrothrombocytopenia, Thrombocytopenia, Anemia	OMIM:616176
Peroxisome Biogenesis Disorder 6A (Zellweger)	Hepatomegaly, Renal cyst	OMIM:614870
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Aplasia of the 3rd finger, Short hallux, Split hand, Absent tibia, Hand monodactyly, Split foot, ...	OMIM:119100
Tibial Aplasia-Ectrodactyly Syndrome	Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem...	ORPHA:3329
Diamond-Blackfan Anemia 12	Reticulocytopenia, Elevated red cell adenosine deaminase activity, Normochromic anemia, Macrocyti...	OMIM:615550
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Anisopoikilocytosis, Anemia, Elevated circulating hepatic transaminase concentration, Decreased t...	ORPHA:300298
Transcobalamin Ii Deficiency	Hepatomegaly, Anemia, Erythroid hypoplasia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia,...	OMIM:275350
Immunodeficiency 114, Folate-Responsive	Hypertriglyceridemia, Hepatomegaly, Megaloblastic anemia, Increased circulating IgE level, Decrea...	OMIM:620603
Image Syndrome	Intrauterine growth retardation, Hydronephrosis, Hypospadias	ORPHA:85173
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Renal tubular epithelial necrosis, Myoglobinuria, Red-brown urine, Elevated circulating long chai...	ORPHA:228302
Erythrocytosis, Familial, 3	Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit	OMIM:609820
Bardet-Biedl Syndrome 4	Abnormality of the kidney, Obesity, Renal cyst	OMIM:615982
Galloway-Mowat Syndrome 4	Focal segmental glomerulosclerosis, Congenital nephrotic syndrome, Nephrotic syndrome, Short stat...	OMIM:617730
Fanconi Anemia, Complementation Group G	Thrombocytopenia, Anemia, Leukemia, Neutropenia	OMIM:614082
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Increased circulating IgG level, Sple...	OMIM:618495
Glycogen Storage Disease Xi	Myoglobinuria, Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinas...	OMIM:612933
Tibial Hemimelia	Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity...	ORPHA:93322
Vitamin B12-Responsive Methylmalonic Acidemia	Hyperammonemia, Hepatomegaly, Anemia	ORPHA:28
Macrophage Activation Syndrome	Hypertriglyceridemia, Decreased liver function, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal ...	ORPHA:158061
Reticular Dysgenesis	Anemia, Decreased circulating antibody level, Leukopenia, Aplasia/Hypoplasia of the thymus, Abnor...	ORPHA:33355
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Anemia, Nephrotic syndrome, Short stature, Proteinuria, Nephropathy	ORPHA:1192
Galactose Epimerase Deficiency	Jaundice, Hepatomegaly, Growth delay, Splenomegaly, Weight loss, Aminoaciduria	ORPHA:79238
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia	OMIM:619523
Isolated Polycystic Liver Disease	Hepatomegaly, Polycystic liver disease, Increased total bilirubin, Multiple renal cysts, Abnormal...	ORPHA:2924
Reni Syndrome	Hypertriglyceridemia, Focal segmental glomerulosclerosis, Podocyte foot process effacement, Nephr...	OMIM:617575
Tempi Syndrome	Increased circulating IgG level, Polycythemia, Ascites, Increased hematocrit	ORPHA:284227
Nephronophthisis 11	Polyuria, Nephronophthisis, Anemia, Tubular basement membrane disintegration, Hepatic fibrosis, G...	OMIM:613550
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness	Hydronephrosis, Hydroureter	OMIM:264140
Distal 16P11.2 Microdeletion Syndrome	Abnormality of the kidney, Hyperuricemia, Vesicoureteral reflux, Renal agenesis, Obesity, Protein...	ORPHA:261222
Hypocalcemia, Autosomal Dominant 1	Decreased glomerular filtration rate, Hypokalemia, Hypercalciuria, Hypocalcemia, Nephrolithiasis,...	OMIM:601198
Alagille Syndrome 2	Cholestatic liver disease, Hematuria, Renal tubular acidosis, Cholestasis, Renal cyst, Renal hypo...	OMIM:610205
Glycogen Storage Disease X	Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration	OMIM:261670
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Renal salt wasting, Polyuria, Anemia, Hyperuricemia, Pancytopenia, Increased blood urea nitrogen,...	OMIM:613845
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Large for gestational age, Hepatomegaly, Hypouricemia, Short stature, Glycosuria, Hyperphosphatur...	OMIM:616026
Alport Syndrome 3A, Autosomal Dominant	Hematuria, Azotemia, Nephrotic syndrome, Microscopic hematuria, Thickened glomerular basement mem...	OMIM:104200
Amegakaryocytic Thrombocytopenia, Congenital, 2	Aplastic anemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Elevated ci...	OMIM:620481
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ...	ORPHA:86841
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Nephronophthisis, Hepatomegaly, Cholestasis, Short stature, Obesity, Splenomegaly, Chronic kidney...	OMIM:615630
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hypertriglyceridemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Decreased ci...	OMIM:300635
Orofaciodigital Syndrome Viii	Polydactyly, Short tibia, Syndactyly	OMIM:300484
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia, Hepatomegaly, Splenomegaly	OMIM:619175
Acromesomelic Dysplasia 2B	Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ...	OMIM:228900
Thrombocythemia 1	Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Imp...	OMIM:187950
Erythrocytosis, Familial, 7	Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit	OMIM:617981
Erythrocytosis, Familial, 6	Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit	OMIM:617980
Xanthinuria, Type I	Xanthinuria, Hypouricemia, Hydronephrosis, Xanthine nephrolithiasis, Hyperxanthinemia, Pyelonephr...	OMIM:278300
Free Sialic Acid Storage Disease	Hepatomegaly, Ascites, Nephrotic syndrome, Splenomegaly, Proteinuria, Failure to thrive in infancy	ORPHA:834
Medullary cystic kidney disease 2	Hyperuricemia, Enuresis, Renal tubular atrophy, Multiple renal cysts, Renal corticomedullary cyst...	OMIM:603860
Hemochromatosis, Type 3	Cirrhosis, Anemia, Elevated circulating hepatic transaminase concentration, Increased circulating...	OMIM:604250
Immunodeficiency, Common Variable, 1	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt...	OMIM:607594
Immunodeficiency 112	Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell...	OMIM:620449
Galloway-Mowat Syndrome 7	Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Short ...	OMIM:618348
Frasier Syndrome	Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis	OMIM:136680
Immune Dysregulation, Autoimmunity, And Autoinflammation	Cervical lymphadenopathy, Increased circulating interleukin 6 concentration, Anemia, Inguinal lym...	OMIM:620514
Myoglobinuria, Autosomal Dominant	Acute kidney injury, Elevated circulating creatine kinase concentration, Myoglobinuria	OMIM:160010
Transaldolase Deficiency	Cirrhosis, Anemia, Abnormal circulating glutamine concentration, Increased serum bile acid concen...	ORPHA:101028
Kasabach-Merritt Phenomenon	Hepatic hemangioma, Anemia, Abnormal lymphatic vessel morphology, Reticulocytosis, Leukopenia, Th...	ORPHA:2330
Fanconi Renotubular Syndrome 2	Decreased glomerular filtration rate, Renal phosphate wasting, Generalized aminoaciduria, Hyperca...	OMIM:613388
Hydrops Fetalis, Nonimmune	Anemia	OMIM:236750
Neonatal Severe Primary Hyperparathyroidism	Short stature, Splenomegaly, Hepatomegaly, Aminoaciduria	ORPHA:417
Anti-Glomerular Basement Membrane Disease	Glomerulopathy, Anemia, Hematuria, Proteinuria, Renal insufficiency	ORPHA:375
C3 Glomerulopathy 3	Mesangial matrix expansion, Glomerular subendothelial electron-dense deposits, Glomerular C3 depo...	OMIM:614809
Immunodeficiency, Common Variable, 2	Hepatomegaly, Lymphadenopathy, Partial absence of specific antibody response to unconjugated pneu...	OMIM:240500
Diamond-Blackfan Anemia 5	Leukopenia, Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia	OMIM:612528
Immunodeficiency 97 With Autoinflammation	Hypertriglyceridemia, Granuloma, Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer...	OMIM:619802
Imerslund-Grasbeck Syndrome 1	Microscopic hematuria, Megaloblastic anemia, Proteinuria	OMIM:261100
Fanconi Anemia, Complementation Group T	Anemia, Acute myeloid leukemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:616435
Immunodeficiency With Hyper-Igm, Type 1	Dysgammaglobulinemia, Decreased circulating IgE, Sclerosing cholangitis, Impaired Ig class switch...	OMIM:308230
Peroxisome Biogenesis Disorder 1A (Zellweger)	Hepatomegaly, Hypospadias, Intrahepatic biliary dysgenesis, Elevated circulating long chain fatty...	OMIM:214100
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami...	OMIM:300946
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Impaired platelet aggregation, Poikilocytosis, Bone marrow hypocellularity, El...	OMIM:300835
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Monocytosis, Bone marrow hypocellularity, Leukopenia, Refractory anemia	OMIM:616871
Posterior Urethral Valve	Postnatal growth retardation, Urinary incontinence, Unilateral renal dysplasia, Recurrent urinary...	ORPHA:93110
Nphp3-Related Meckel-Like Syndrome	Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Renal dysplasia, Multicy...	ORPHA:3032
Congenital Toxoplasmosis	Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Elevated circulating hepatic transaminase concen...	ORPHA:858
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Anemia, Splenomegaly	OMIM:618107
Hemochromatosis, Type 5	Abnormal circulating transferrin concentration, Anemia, Abnormal circulating copper concentration...	OMIM:615517
Denys-Drash Syndrome	Nephrotic syndrome, Nephroblastoma, Proteinuria, Nephropathy	ORPHA:220
Senior-Boichis Syndrome	Tubular luminal dilatation, Cholestasis, Ascites, Abnormal renal insterstitial morphology, Stage ...	ORPHA:84081
Car T Cell Therapy-Associated Cytokine Release Syndrome	Abnormal circulating cytokine concentration, Acute kidney injury, Increased circulating interleuk...	ORPHA:542323
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Disproportionate short stature, Hemolytic-uremic syndrome, Reduced haptoglobin level, Anemia, Sch...	OMIM:301110
Hemochromatosis, Type 4	Cirrhosis, Hepatomegaly, Anemia, Elevated transferrin saturation, Increased circulating ferritin ...	OMIM:606069
Acrofacial Dysostosis Syndrome Of Rodriguez	Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Oligodactyly, Micrognathia, Overlappin...	OMIM:201170
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly	OMIM:617441
Familial Mediterranean Fever, Autosomal Dominant	Renal insufficiency, Proteinuria, Peritonitis, Renal amyloidosis	OMIM:134610
Tibial Hemimelia	Absent tibia	OMIM:275220
Mesomelic Dysplasia, Savarirayan Type	Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra...	ORPHA:85170
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hypertriglyceridemia, Increased circulating ferritin concentration, Anemia, Acute myeloid leukemi...	ORPHA:158057
Urofacial Syndrome 1	Hydroureter, Urethral obstruction, Recurrent urinary tract infections, Enuresis, Hydronephrosis, ...	OMIM:236730
Transcobalamin Deficiency	Acute kidney injury, Pancytopenia, Abnormality of chromosome stability, Decreased circulating ant...	ORPHA:859
Aregenerative Anemia	Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,...	ORPHA:101096
Cystinuria	Argininuria, Recurrent urinary tract infections, Nephrolithiasis, Ornithinuria, Hyperlysinuria, R...	OMIM:220100
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Decreased glomerular filtration rate, Polycystic kidney dysplasia, Hepatic cysts, Stage 5 chronic...	OMIM:618061
Stormorken-Sjaastad-Langslet Syndrome	Anemia, Asplenia	ORPHA:3204
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Myoglobinuria, Renal insufficiency	OMIM:255110
Immunodeficiency, Common Variable, 7	Decreased circulating total IgG, Chronic partially decreased circulating IgG1, Decreased specific...	OMIM:614699
Coach Syndrome 1	Cirrhosis, Nephronophthisis, Hepatomegaly, Unilateral renal agenesis, Abnormal abdomen morphology...	OMIM:216360
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla...	OMIM:228930
Multicentric Carpotarsal Osteolysis Syndrome	Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Bilateral renal atrophy	OMIM:166300
Thomas Syndrome	Renal hypoplasia/aplasia, Multicystic kidney dysplasia	ORPHA:3316
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Autoimmune hemolytic anemia, Hepatomegaly, Decreased circulating total IgM, Elevated circulating ...	ORPHA:331206
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Anemia, Ascites, Hypercalcemia, Thrombocytopenia	ORPHA:2123
Pauci-Immune Glomerulonephritis	Acute kidney injury, Pancreatitis, Decreased glomerular filtration rate, Glomerular sclerosis, Ne...	ORPHA:93126
Senior-Loken Syndrome 8	Nephronophthisis, Intrahepatic bile duct dilatation, Glomerular subepithelial immune-complex depo...	OMIM:616307
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Anemia	OMIM:610090
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic...	ORPHA:67044
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Nephronophthisis-Like Nephropathy 1	Nephronophthisis, Chronic pancreatitis, Tubular basement membrane disintegration, Renal tubular a...	OMIM:613159
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Coombs-posi...	OMIM:619375
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Anemia, Thrombocytopenia, Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia	OMIM:616738
Renal Cysts And Diabetes Syndrome	Abnormality of the kidney, Elevated circulating creatinine concentration, Multiple glomerular cys...	OMIM:137920
Acheiropodia	Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Absent radius, Absent hand,...	ORPHA:931
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hypertriglyceridemia, Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly, Increased circulating...	OMIM:618398
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multicystic kidney dysplasia	ORPHA:2091
8P23.1 Duplication Syndrome	Hydronephrosis	ORPHA:251076
Joubert Syndrome 7	Stage 5 chronic kidney disease, Nephronophthisis, Renal cyst	OMIM:611560
Multiple Myeloma	Acute kidney injury, Anemia, Lymphadenopathy, Abnormality of the bladder, Increased circulating I...	ORPHA:29073
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Myoglobinuria, Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinas...	ORPHA:2364
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Hyperhomocystinemia, Meg...	OMIM:617780
Ziegler-Huang Syndrome	Bone marrow hypocellularity, Persistence of hemoglobin F, Macrocytic anemia, Neutropenia	OMIM:620501
Wiskott-Aldrich Syndrome	Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody level, Decreased cir...	OMIM:301000
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis	OMIM:603529
Fanconi Anemia, Complementation Group V	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Elevated circulating alpha-fetoprotein con...	OMIM:617243
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features	Hydronephrosis	OMIM:235760
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Anemia	OMIM:618728
Ataxia-Pancytopenia Syndrome	Anemia, Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Hypoplastic anemia, Neutro...	OMIM:159550
Alpha-Thalassemia	Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Galloway-Mowat Syndrome 10	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Proteinuria, Podocyte foot process e...	OMIM:619609
Diffuse Alveolar Hemorrhage	Anemia, Hematuria, Leukocytosis, Thrombocytopenia, Proteinuria, Weight loss, Elevated circulating...	ORPHA:90060
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Liver abscess, Abnormal lymph node morphology, Anemia, Elevated circulating C-reactive protein co...	ORPHA:54251
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia	OMIM:619302
Idiopathic Aplastic Anemia	Anemia, Pancytopenia, Reticulocytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	ORPHA:88
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Fibular aplasia, Split foot, Short phalanx of finger, Brachydactyly, Aplasia/Hypoplasia of the fi...	OMIM:113310
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Jaundice, Anemia, Elevated circulating hepatic transaminase...	ORPHA:64743
Primary Hyperoxaluria Type 1	Calcinosis, Hematuria, Decreased glomerular filtration rate, Anemia, Recurrent urinary tract infe...	ORPHA:93598
Joubert Syndrome 15	Nephronophthisis, Micropenis	OMIM:614464
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Hyperlipoproteinemia, Recurrent pancreatitis	OMIM:118830
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Pancreatitis, Hypokalemia, Leukocytosis, Reticulocytosis, Unconjugated hyperbilirubinemia, Hypona...	ORPHA:90038
Senior-Loken Syndrome 3	Polyuria, Nephronophthisis, Enuresis, Stage 5 chronic kidney disease, Renal corticomedullary cysts	OMIM:606995
Infantile Liver Failure Syndrome 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Macrocytic anemia,...	OMIM:615438
Congenital Myopathy 19	Hydronephrosis, Renal atrophy	OMIM:618578
Joubert Syndrome 35	Recurrent urinary tract infections, Hydronephrosis, Multicystic kidney dysplasia, Renal fibrosis	OMIM:618161
Wolfram Syndrome, Mitochondrial Form	Hydroureter, Megaloblastic anemia, Sideroblastic anemia, Hydronephrosis, Thrombocytopenia, Neutro...	OMIM:598500
Glycogen Storage Disease Ia	Delayed puberty, Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rat...	OMIM:232200
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Pancreatitis, Anemia, Hyperammonemia, Thrombocytopenia, Splenomegaly, Neutropenia	ORPHA:79312
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Leukopenia, Splenomegaly, Acute he...	OMIM:278000
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Cholestatic liver disease, Jaundice, Giant cell hepatitis, Small for gestational age, Renal tubul...	OMIM:208085
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
Lysinuric Protein Intolerance	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Argininuria, Decreased glomerular ...	ORPHA:470
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Focal segmental glomerulosclerosis, Nephrotic syndrome, Bone marrow hypocellularity, Failure to t...	OMIM:301108
Ochoa Syndrome	Urinary incontinence, Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral re...	ORPHA:2704
Juvenile Nephropathic Cystinosis	Proximal tubulopathy, Hypophosphatemia, Elevated circulating creatinine concentration, Stage 5 ch...	ORPHA:411634
Cinca Syndrome	Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukocytosis, Hep...	OMIM:607115
Osteopetrosis, Autosomal Recessive 9	Hyperkalemia, Postnatal growth retardation, Stage 3 chronic kidney disease, Anemia, Elevated circ...	OMIM:620366
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Inc...	ORPHA:457077
Relapsing Fever	Acute kidney injury, Jaundice, Hematuria, Anemia, Elevated circulating C-reactive protein concent...	ORPHA:91547
Formiminoglutamic Aciduria	Abnormal circulating histidine concentration, Megaloblastic anemia, Anemia	ORPHA:51208
Dent Disease 1	Low-molecular-weight proteinuria, Renal phosphate wasting, Hypercalciuria, Proximal tubulopathy, ...	OMIM:300009
6-Phosphogluconolactonase Deficiency	Hemolytic anemia	OMIM:172150
Hypereosinophilic Syndrome, Idiopathic	Eosinophilia, Hepatomegaly, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly	ORPHA:721
Orofaciodigital Syndrome Xv	Hydronephrosis	OMIM:617127
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Portal fibrosis, Hepatomegaly, Increased serum bile acid concentration, Elevated circul...	OMIM:619868
Hypomagnesemia 3, Renal	Nephrocalcinosis, Macroscopic hematuria, Stage 5 chronic kidney disease, Elevated circulating cre...	OMIM:248250
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Anemia, Hyperuricemia	ORPHA:371
Alport Syndrome 2, Autosomal Recessive	Hematuria, Nephrotic syndrome, Thickened glomerular basement membrane, Nephritis, Proteinuria, St...	OMIM:203780
Fanconi Renotubular Syndrome 1	Low-molecular-weight proteinuria, Hypokalemia, Renal tubular dysfunction, Short stature, Glycosur...	OMIM:134600
Immunodeficiency 84	B lymphocytopenia, Splenomegaly, Perianal abscess	OMIM:619437
Congenital Disorder Of Glycosylation, Type Iir	Decreased liver function, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conce...	OMIM:301045
Renal Tubular Acidosis, Proximal	Hypercalciuria, Elevated circulating creatinine concentration, Proximal renal tubular acidosis, S...	OMIM:179830
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly	ORPHA:66661
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Hematuria, Elevated circulating creatine kinase concentration, Renal cyst, Renal insufficiency	OMIM:611773
Glycogen Storage Disease Ib	Delayed puberty, Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rat...	OMIM:232220
Asplenia, Isolated Congenital	Howell-Jolly bodies, Thrombocytosis, Asplenia	OMIM:271400
Cystinosis	Delayed puberty, Hypokalemia, Nephropathy, Portal hypertension, Short stature, Failure to thrive,...	ORPHA:213
Neuraminidase Deficiency	Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Ascites, Short stature, Urinary exc...	OMIM:256550
Igg4-Related Retroperitoneal Fibrosis	Acute kidney injury, Renal tubular epithelial necrosis, Normocytic anemia, Hematuria, Elevated ci...	ORPHA:49041
Acute Monoblastic/Monocytic Leukemia	Cervical lymphadenopathy, Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochro...	ORPHA:514
Lymphoproliferative Syndrome 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Decreased circula...	OMIM:615122
Fanconi-Bickel Syndrome	Postnatal growth retardation, Intrahepatic cholestasis, Hepatomegaly, Increased serum bile acid c...	OMIM:227810
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ...	OMIM:301078
Myh9-Related Disease	Neutrophil inclusion bodies, Giant platelets, Renal insufficiency, Increased mean platelet volume...	ORPHA:182050
Isolated Permanent Neonatal Diabetes Mellitus	Pancreatic hypoplasia, Abnormality of the upper urinary tract, Glycosuria, Reduced pancreatic bet...	ORPHA:99885
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Elevated circulating C-reactive protein concentration, Sterile abscess, Pancytopenia, Hepatosplen...	OMIM:604416
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Hyperkalemia, Acute kidney injury, Elevated circulating creatine kinase concentration, Myoglobinuria	OMIM:268200
Hypertriglyceridemia, Transient Infantile	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Sple...	OMIM:614480
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Aplastic anemia, Cirrhosis, Anemia, Mediastinal lymphadenopathy, Pancytopenia, Bone marrow hypoce...	OMIM:614742
Majeed Syndrome	Anemia of inadequate production, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid...	OMIM:609628
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Anemia, Splenomegaly	OMIM:620296
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Ureteral duplication, Macrovesicular hepatic steatosis, Cardiomegaly, Hepatomega...	OMIM:608836
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Decreased circulating antibody level,...	OMIM:616100
Wolman Disease	Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Splenomegaly, Hepatic failure	ORPHA:75233
Fetal Cytomegalovirus Syndrome	Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Thromboc...	ORPHA:294
Interstitial Cystitis	Elevated circulating C-reactive protein concentration, Abnormality of the bladder, Pollakisuria, ...	ORPHA:37202
Orofaciodigital Syndrome Iv	Short finger, Foot polydactyly, Postaxial polydactyly, Hand polydactyly, Micrognathia, Brachydact...	OMIM:258860
Igg4-Related Aortitis	Increased circulating antibody level, Elevated circulating C-reactive protein concentration, Incr...	ORPHA:449400
Cryoglobulinemic Vasculitis	Glomerulopathy, Hepatomegaly, Hematuria, Mediastinal lymphadenopathy, Viral hepatitis, Splenomega...	ORPHA:91138
Netherton Syndrome	Ectopic kidney, Increased circulating IgE level, Decreased circulating antibody level, Short stat...	ORPHA:634
Paternal Uniparental Disomy Of Chromosome 1	Delayed puberty, Enlarged kidney, Episodic hemolytic anemia, Increased blood urea nitrogen, Short...	ORPHA:251004
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Proportionate short stature, Growth delay, Obesity, Hydronephrosis, Moderate albuminuria	OMIM:619269
Lessel-Kubisch Syndrome	Short stature, Renal hypoplasia, Renal insufficiency	OMIM:618681
Eiken Syndrome	Fibular hypoplasia, Delayed epiphyseal ossification, Abnormal acetabulum morphology, Epiphyseal d...	ORPHA:79106
Abetalipoproteinemia	Cirrhosis, Hepatomegaly, Anemia, Decreased HDL cholesterol concentration, Elevated circulating he...	ORPHA:14
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Hypospadias, Glomerular sclerosis, Nephrotic syndrome, Growth delay, Proteinuria, Glomerulonephritis	OMIM:619428
Frasier Syndrome	Glomerulopathy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Nephroblasto...	ORPHA:347
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Pancreatitis, Anemia, Macrocytic anemia, Hyperammonemia, Thrombocytopenia, Leukopenia	ORPHA:27
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Ascites, Anemia, Splenomegaly	ORPHA:1046
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Intraalveolar phospholipid accumulation, Splenomegaly, Decreased circulating antibody level, Leuk...	OMIM:618042
Tularemia	Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Increased circula...	ORPHA:3392
6P22 Microdeletion Syndrome	Hydronephrosis	ORPHA:251046
Diamond-Blackfan Anemia 20	Anemia, Erythroid hypoplasia	OMIM:618313
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog...	ORPHA:100026
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Pancreatitis, Anemia, Hyperammonemia, Thrombocytopenia, Neutropenia	ORPHA:289916
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Decreased circulating IgG level, Leukopenia, Splenomegaly, Lymphopenia, Decreased c...	OMIM:620210
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thym...	OMIM:603554
Tetraploidy	Aplasia/Hypoplasia of the thymus, Renal hypoplasia/aplasia, Intrauterine growth retardation, Hydr...	ORPHA:3305
Babesiosis	Jaundice, Hepatomegaly, Thrombocytopenia, Leukopenia, Splenomegaly, Hemolytic anemia, Hepatic fai...	ORPHA:108
Mitochondrial Complex I Deficiency, Nuclear Type 18	Hydronephrosis, Hydroureter	OMIM:618240
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia	OMIM:619164
Say Syndrome	Short stature, Cystic renal dysplasia, Proximal renal tubular acidosis	OMIM:181180
Xanthinuria, Type Ii	Xanthinuria, Hypouricemia, Nephrolithiasis, Increased circulating hypoxanthine concentration, Inc...	OMIM:603592
Pearson Syndrome	Elevated circulating hepatic transaminase concentration, Reticulocytosis, Bone marrow hypocellula...	ORPHA:699
Meckel Syndrome, Type 9	Multicystic kidney dysplasia	OMIM:614209
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Multicystic kidney dysplasia	ORPHA:3270
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Intestinal lymphangiectasia, Anemia, Iron deficiency anemia, Hepatomegaly, Hypoproteinemia, Decre...	OMIM:226300
Vesicoureteral Reflux 3	Hydroureter, Recurrent urinary tract infections, Grade III vesicoureteral reflux, Ureteropelvic j...	OMIM:613674
Cystic Hamartoma Of Lung And Kidney	Multicystic kidney dysplasia	ORPHA:2111
Thrombocytopenia 5	Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut...	OMIM:616216
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hepatomegaly, Short stature, Growth delay, Splenomegaly, Reduced renal corticomedullary different...	OMIM:618541
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Hepatocellular carcinoma, Generalized aminoaciduria	ORPHA:882
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphadenopathy, Tubulointerstitial fibrosis, T lymphocytopenia, Short stature, Lymphopenia, Auto...	OMIM:607944
Carnitine Palmitoyltransferase Ii Deficiency	Renal tubular epithelial necrosis, Hepatomegaly, Myoglobinuria, Polycystic kidney dysplasia, Red-...	ORPHA:157
Schimke Immuno-Osseous Dysplasia	Hyperlipidemia, Bone marrow hypocellularity, Lymphopenia, Intrauterine growth retardation, Stage ...	ORPHA:1830
Systemic Sclerosis	Abnormality of the kidney, Acute kidney injury, Elevated circulating creatine kinase concentratio...	ORPHA:90291
Anemia, Sideroblastic, 1	Sideroblastic anemia, Anemia of inadequate production, Hypochromic microcytic anemia, Macrocytic ...	OMIM:300751
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Intestinal lymphangiectasia, Anemia, Decreased proportion of CD3-positive T ...	ORPHA:90362
Amed Syndrome, Digenic	Anemia, Acute myeloid leukemia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia	OMIM:619151
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Hypocystinemia, Decreased circulating antibody level, Decreased serum creatinine, Failure to thri...	OMIM:617744
Congenital Syphilis	Anemia, Pancreatitis, Lymphadenopathy, Prolonged neonatal jaundice, Thrombocytopenia, Hepatosplen...	ORPHA:499009
Immunodeficiency 10	Autoimmune hemolytic anemia, Increased circulating IgG3 level, Hepatomegaly, Lymphadenopathy, Inc...	OMIM:612783
Mucopolysaccharidosis-Plus Syndrome	Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Anemia, Focal segmental glomerul...	OMIM:617303
Immunodeficiency 21	Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu...	OMIM:614172
Coproporphyria, Hereditary	Elevated urinary delta-aminolevulinic acid, Jaundice, Hepatomegaly, Increased urinary porphobilin...	OMIM:121300
Peroxisome Biogenesis Disorder 3A (Zellweger)	Polycystic kidney dysplasia, Increased circulating very long-chain fatty acid concentration, Hepa...	OMIM:614859
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Abnormal lymph node mo...	ORPHA:911
Hypophosphatemic Rickets, X-Linked Recessive	Low-molecular-weight proteinuria, Hypophosphatemic rickets, Renal phosphate wasting, Hypercalciur...	OMIM:300554
Congenital Enterovirus Infection	Hypothermia, Anemia, Abnormal macrophage morphology, Cholestasis, Leukocytosis, Fetal ascites, He...	ORPHA:292
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con...	OMIM:616828
Weismann-Netter Syndrome	Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal hip bo...	ORPHA:3344
Majeed Syndrome	Glomerulopathy, Hepatomegaly, Hypochromic microcytic anemia, Cachexia, Leukocytosis, Microscopic ...	ORPHA:77297
Rhyns Syndrome	Short stature, Nephronophthisis, Renal insufficiency, Chronic kidney disease	OMIM:602152
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Polycythemia, Methemoglobinemia	OMIM:250800
Lesch-Nyhan Syndrome	Anemia, Hyperuricemia	ORPHA:510
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Abnormal circulating interferon-gamma concentration, Jaundice, Anemia, Hepatomegaly, Abnormal nat...	ORPHA:79124
Aicardi-Goutieres Syndrome 9	Ascites, Left ventricular hypertrophy, Intrauterine growth retardation, Stage 5 chronic kidney di...	OMIM:619487
Coach Syndrome 2	Portal fibrosis, Hepatic fibrosis, Hyperechogenic kidneys, Congenital hepatic fibrosis, Elevated ...	OMIM:619111
Pseudo-Torch Syndrome 3	Acute kidney injury, Anemia, Leukocytosis, Lymphadenitis, Proteinuria, Cardiomegaly, Increased ci...	OMIM:618886
Leiomyomatosis, Diffuse, With Alport Syndrome	Hematuria, Nephropathy, Microscopic hematuria, Thickened glomerular basement membrane, Failure to...	OMIM:308940
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypothermia, Per...	OMIM:251880
Distal Renal Tubular Acidosis	Low-molecular-weight proteinuria, Hypocitraturia, Decreased glomerular filtration rate, Hypokalem...	ORPHA:18
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal tubular epithelial necrosis, Dicarboxylic aciduria, Hepatic steatosis, Hepatomegaly, Myoglo...	ORPHA:228308
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Cold Agglutinin Disease	Lymphadenopathy, Hepatomegaly, Splenomegaly, Hemolytic anemia	ORPHA:56425
Peroxisome Biogenesis Disorder 11A (Zellweger)	Failure to thrive, Multiple renal cysts, Renal cyst	OMIM:614883
Glycogen Storage Disease V	Elevated circulating creatine kinase concentration, Myoglobinuria, Dark urine, Hyperuricemia	OMIM:232600
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Distal Duplication 6P	Short stature, Renal hypoplasia, Hydronephrosis, Intrauterine growth retardation, Abnormality of ...	ORPHA:1745
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Postnatal growth retardation, Jaundice, Intrahepatic cholestasis, Duplicated collecting system, H...	OMIM:617093
Hyperparathyroidism 2 With Jaw Tumors	Renal cortical adenoma, Pancreatic adenocarcinoma, Polycystic kidney dysplasia, Nephrolithiasis, ...	OMIM:145001
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A...	ORPHA:86843
Aggressive Systemic Mastocytosis	Decreased liver function, Anemia, Increased proportion of CD25+ mast cells, Lymphadenopathy, Panc...	ORPHA:98850
Metaphyseal Dysplasia, Braun-Tinschert Type	Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop...	ORPHA:85188
Congenital Disorder Of Glycosylation, Type Ib	Cirrhosis, Lymphangiectasis, Hepatomegaly, Proximal tubulopathy, Renal cyst, Failure to thrive, H...	OMIM:602579
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Short stature, Hydronephrosis, Decreased body weight, Vesicoureteral reflux	OMIM:618265
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Anemia	OMIM:614514
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia, Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating antibody level...	OMIM:617591
Joubert Syndrome 3	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:608629
Erythrocytosis, Familial, 2	Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit	OMIM:263400
Dyschondrosteosis-Nephritis Syndrome	Hematuria, Mesomelic short stature, Short stature, Proteinuria, Intrauterine growth retardation, ...	ORPHA:1765
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insufficiency, Splen...	OMIM:612714
Pyruvate Dehydrogenase E1-Alpha Deficiency	Intrauterine growth retardation, Increased serum pyruvate, Abnormal medullary pyramid morphology,...	ORPHA:79243
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Schimke Immunoosseous Dysplasia	Abnormal T cell morphology, Anemia, Abnormal immunoglobulin level, Pancytopenia, Decreased circul...	OMIM:242900
Activated Pi3K-Delta Syndrome	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Decreased circulating an...	ORPHA:397596
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Lymphadenopathy, Decreased FOXP3-expressing T cell count, Increased circulating IgE level...	OMIM:304790
Prolidase Deficiency	Hepatomegaly, Anemia, Increased circulating antibody level, Prolonged neonatal jaundice, Thromboc...	OMIM:170100
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Reduced blood urea nitrogen, Hyposthenuria, Decreased circulating renin level, Decreased serum cr...	OMIM:300539
Congenital Dyserythropoietic Anemia Type Iii	Increased total iron binding capacity, Anemia, Elevated circulating hepatic transaminase concentr...	ORPHA:98870
Cystic Echinococcosis	Cholestatic liver disease, Jaundice, Hepatomegaly, Increased circulating antibody level, Abnormal...	ORPHA:400
Joubert Syndrome 20	Renal cyst	OMIM:614970
Endove Syndrome, Limb-Brain Type	Recurrent urinary tract infections, Neurogenic bladder, Hydronephrosis, Failure to thrive	OMIM:619218
Vesicoureteral Reflux 2	Renal hypoplasia, Vesicoureteral reflux	OMIM:610878
Dohle Bodies And Leukemia	Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies	OMIM:223350
Williams-Beuren Region Duplication Syndrome	Unilateral renal agenesis, Short stature, Failure to thrive, Hydronephrosis, Small for gestationa...	OMIM:609757
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Jaundice, Anemia, Hemophagocytosis...	OMIM:267700
Intermediate Generalized Junctional Epidermolysis Bullosa	Anemia	ORPHA:79402
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Short stature, Renal hypoplasia/aplasia, Multiple renal cysts, Vesicoureteral reflux	ORPHA:1166
Hemorrhagic Fever-Renal Syndrome	Hyperkalemia, Acute kidney injury, Hematuria, Decreased glomerular filtration rate, Acute tubuloi...	ORPHA:340
Coenzyme Q10 Deficiency, Primary, 1	Anemia, Glomerular sclerosis, Recurrent myoglobinuria, Pancytopenia, Elevated circulating creatin...	OMIM:607426
Renal Coloboma Syndrome	Multicystic kidney dysplasia, Vesicoureteral reflux, Renal hypoplasia, Renal dysplasia, Renal ins...	ORPHA:1475
Congenital Erythropoietic Porphyria	Increased erythrocyte protoporphyrin concentration, Reduced haptoglobin level, Reticulocytosis, P...	ORPHA:79277
Glycogen Storage Disease Xii	Normocytic anemia, Jaundice, Anemia, Decreased erythrocyte fructose-1,6-bisphosphate aldolase act...	OMIM:611881
Gaucher Disease Type 1	Cirrhosis, Hepatomegaly, Anemia, Decreased HDL cholesterol concentration, Cholelithiasis, Pancyto...	ORPHA:77259
Glycogen Storage Disease Due To Aldolase A Deficiency	Hyperkalemia, Acute kidney injury, Myoglobinuria, Elevated creatine kinase after exercise, Growth...	ORPHA:57
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Anemia, Glycosuria, Hyperphosphaturia, Failure to thrive, Proteinuria, Aminoaciduri...	ORPHA:436271
Mitochondrial Myopathy And Sideroblastic Anemia	Anemia	ORPHA:2598
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Elevated circulating hepcidin concentration, Anisocytosis, Hypochromic microcytic...	OMIM:206200
Papa Syndrome	Lymphadenopathy, Increased circulating antibody level, Proteinuria	ORPHA:69126
Paroxysmal Nocturnal Hemoglobinuria	Jaundice, Anemia, Reduced haptoglobin level, Pancytopenia, Abnormal erythrocyte enzyme concentrat...	ORPHA:447
Isolated Agammaglobulinemia	Anemia, Abnormality of the tonsils, Abnormality of the lymphatic system, Abnormal lymphocyte morp...	ORPHA:229717
Primary Erythromelalgia	Hypothermia, Leukemia	ORPHA:90026
Immunodeficiency 22	Anemia, Decreased circulating IgE, Ascites, Decreased circulating IgG level, Decreased proportion...	OMIM:615758
Infantile Sialic Acid Storage Disease	Hepatomegaly, Vacuolated lymphocytes, Ascites, Nephrotic syndrome, Failure to thrive, Splenomegal...	OMIM:269920
Bone Marrow Failure Syndrome 5	Pure red cell aplasia, Decreased circulating antibody level, Anemia, Erythroid hypoplasia	OMIM:618165
Genitopalatocardiac Syndrome	Hypospadias, Renal cyst	OMIM:231060
Immunodeficiency 7	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut...	OMIM:615387
Multiple Epiphyseal Dysplasia, Lowry Type	Fibular hypoplasia, Genu valgum, Rhizomelia, Small epiphyses, Delayed epiphyseal ossification, Di...	ORPHA:166016
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase concentration, Hypoalbu...	OMIM:618805
Brain Malformations With Or Without Urinary Tract Defects	Renal hypoplasia, Hydronephrosis, Failure to thrive, Vesicoureteral reflux	OMIM:613735
Immunodeficiency 60 And Autoimmunity	Decreased basophil count, Decreased circulating total IgM, Decreased circulating IgE, Pancytopeni...	OMIM:618394
Marburg Hemorrhagic Fever	Jaundice, Pancreatitis, Lymphadenopathy, Increased circulating antibody level, Hypokalemia, Eleva...	ORPHA:99826
Mody	Abnormality of the kidney, Hepatocellular adenoma, Large for gestational age, Abnormal circulatin...	ORPHA:552
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas...	OMIM:620138
Wolcott-Rallison Syndrome	Hepatomegaly, Jaundice, Iron deficiency anemia, Elevated circulating hepatic transaminase concent...	ORPHA:1667
Indolent Systemic Mastocytosis	Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega...	ORPHA:98848
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Hydronephrosis	OMIM:619797
Elliptocytosis 1	Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia	OMIM:611804
Immunodeficiency 36 With Lymphoproliferation	Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr...	OMIM:616005
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Ectopic kidney, Cystic renal dysplasia	OMIM:613730
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Normochromic anemia, Glomerular sclerosis, Abnormality of the hepatic vasculat...	ORPHA:247691
Robin Sequence With Cleft Mandible And Limb Anomalies	Mesomelic arm shortening, Proximal placement of thumb, Short metacarpal, Short 5th finger, 4-5 me...	OMIM:268305
Rhabdoid Tumor	Anemia, Lymphadenopathy, Hypercalcemia, Thrombocytopenia, Neoplasm of the liver	ORPHA:69077
Joubert Syndrome 18	Intrauterine growth retardation, Intrahepatic biliary atresia, Horseshoe kidney, Renal cyst	OMIM:614815
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Gran...	OMIM:618935
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Normochromic anemia, Nephropathy, Focal segmental glomerulosclerosis, Nephrotic s...	OMIM:254900
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, ...	OMIM:619463
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Cachexia, Nephropathy, Proteinuria	ORPHA:2774
Axial Osteomalacia	Elevated circulating creatine kinase concentration, Renal cyst, Polycystic liver disease	OMIM:109130
Joubert Syndrome 37	Hepatomegaly, Short stature, Obesity, Hydronephrosis, Micropenis	OMIM:619185
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hematuria, Unilateral renal dysplasia, Nephrotic syndrome, Thickened glomerular basement membrane...	OMIM:146255
Fgfr2-Related Bent Bone Dysplasia	Extramedullary hematopoiesis, Hepatosplenomegaly	ORPHA:313855
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Lymphadenopathy, B lymphocytopenia, Abscess, Intermittent thrombocytopenia, Splenomegaly, Abnorma...	OMIM:150550
Simple Cryoglobulinemia	Abnormality of the kidney, Monoclonal elevation of IgG, Chronic lymphatic leukemia, Monoclonal el...	ORPHA:91139
Hemophagocytic Syndrome Associated With An Infection	Hypertriglyceridemia, Increased circulating ferritin concentration, Hepatomegaly, Anemia, Hemopha...	ORPHA:158048
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Cholestasis, ...	OMIM:619658
Bor Syndrome	Renal hypoplasia/aplasia, Renal insufficiency, Vesicoureteral reflux, Ureteropelvic junction obst...	ORPHA:107
Odontochondrodysplasia 1	Short stature, Polycystic kidney dysplasia, Nephronophthisis, Mesomelic short stature	OMIM:184260
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly	ORPHA:158029
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr...	ORPHA:436159
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Acute kidney injury, Exercise-induced myoglobinuria, Recurrent myoglobinuria, Elevated circulatin...	ORPHA:368
Meckel Syndrome, Type 11	Polycystic kidney dysplasia	OMIM:615397
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Panhypogammaglobulinemia, Aplasia of the thymus, B lymphocytopenia, Increased circu...	OMIM:602450
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Anemia, Elevated circulating creatine kinase concentration	OMIM:618838
Sickle Cell Disease	Jaundice, Hepatomegaly, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells, Splenomeg...	OMIM:603903
Refractory Anemia With Excess Blasts	Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal circulating protein ...	ORPHA:86839
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Immunodeficiency 96	Defective T cell proliferation, Increased mean corpuscular volume, Increased proportion of gamma-...	OMIM:619774
Axial Mesodermal Dysplasia Spectrum	Renal hypoplasia/aplasia, Renal cyst, Abnormality of the ureter, Short stature, Hydronephrosis, A...	ORPHA:1834
Joubert Syndrome 6	Stage 5 chronic kidney disease, Nephronophthisis, Hepatic fibrosis, Bile duct proliferation	OMIM:610688
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Anemia, Hypochromic microcytic anemia, Increased serum pyruvate, Hyperalaninemia, Growth delay, F...	OMIM:619147
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Anemia	ORPHA:2325
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Gapo Syndrome	Tubulointerstitial fibrosis, Hepatomegaly, Growth delay	OMIM:230740
Recombinant Chromosome 8 Syndrome	Growth delay, Hydronephrosis, Postnatal growth retardation	OMIM:179613
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones...	ORPHA:2634
Laurin-Sandrow Syndrome	Mirror image polydactyly, Tarsal synostosis, Talipes, Abnormal metacarpal morphology, Triphalange...	ORPHA:2378
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Acute kidney injury, Decreased methylmalonyl-CoA mutase activity, Methylmalonic acidemia, Hemolyt...	OMIM:277400
Desmoid Tumor	Hydronephrosis, Abnormality of the upper urinary tract	ORPHA:873
Wilson Disease	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio...	ORPHA:905
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyper...	OMIM:214900
Microcephaly-Micromelia Syndrome	Oligodactyly, Missing ribs, Micromelia, Forearm undergrowth, Humeroradial synostosis, Micrognathi...	OMIM:251230
Cystinosis, Nephropathic	Delayed puberty, Generalized aminoaciduria, Hypophosphatemia, Splenomegaly, Stage 5 chronic kidne...	OMIM:219800
Hypermanganesemia With Dystonia 1	Decreased liver function, Cirrhosis, Hepatomegaly, Increased total iron binding capacity, Elevate...	OMIM:613280
Developmental Delay, Language Impairment, And Ocular Abnormalities	Short stature, Hydronephrosis	OMIM:620141
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Glomerular sclerosis, Increased blood urea nitrogen, Growth delay, Abnormal renal physiology, Ele...	OMIM:223900
Neonatal Lupus Erythematosus	Aplastic anemia, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, P...	ORPHA:398124
Griscelli Syndrome	Abnormal circulating lipid concentration, Jaundice, Hepatomegaly, Lymphadenopathy, Decreased circ...	ORPHA:381
Gaucher Disease, Type Iii	Hepatomegaly, Thrombocytopenia, Splenomegaly, Pancytopenia	OMIM:231000
Stuve-Wiedemann Syndrome 1	Flexion contracture of toe, Short long bone, Femoral bowing, Clubbing, Tibial bowing, Absent pate...	OMIM:601559
Atelosteogenesis Type Iii	Short tubular bones of the hand, Fibular aplasia, Epiphyseal stippling of the humerus, Vertebral ...	ORPHA:56305
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hematuria, Glomerular sclerosis, Elevated urinary epinephrine level, Elevated urinary norepinephr...	ORPHA:276621
Distal Limb Deficiencies-Micrognathia Syndrome	Short stature, Renal hypoplasia, Renal insufficiency, Proteinuria	ORPHA:1307
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Short stature, Hematuria, Proteinuria, Tubulointerstitial nephritis	OMIM:616901
Hypocomplementemic Urticarial Vasculitis	Glomerulopathy, Hepatomegaly, Hematuria, Lymphadenopathy, Ascites, Proteinuria, Splenomegaly, Ren...	ORPHA:36412
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, Anemia, Increased hepatocellular lipid droplets, Glycosuria, Hyperphosphaturia, Fai...	OMIM:220110
Immunodeficiency 47	Elevated circulating hepatic transaminase concentration, Cholestasis, Prolonged neonatal jaundice...	OMIM:300972
Orthostatic Hypotension 2	Anemia	OMIM:618182
Congenital Rubella Syndrome	Jaundice, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly	ORPHA:290
Microphthalmia With Limb Anomalies	Sandal gap, Short long bone, Tibial bowing, Broad thumb, Hip dislocation, Fibular hypoplasia, Tar...	ORPHA:1106
Meckel Syndrome 13	Polycystic kidney dysplasia	OMIM:617562
Good Syndrome	Mediastinal lymphadenopathy, Anemia, Abnormal leukocyte morphology, Decreased circulating antibod...	ORPHA:169105
Polycystic Liver Disease 4 With Or Without Kidney Cysts	Hepatic cysts, Renal cyst	OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts	Hepatic cysts, Renal cyst	OMIM:617874
Ghosal Hematodiaphyseal Dysplasia	Bone marrow hypocellularity, Refractory anemia, Thrombocytopenia, Leukopenia	OMIM:231095
Campomelia, Cumming Type	Polycystic kidney dysplasia, Polycystic liver disease, Short stature, Pancreatic cysts, Polysplenia	OMIM:211890
Alport Syndrome 1, X-Linked	Nephrotic syndrome, Microscopic hematuria, Thickened glomerular basement membrane, Nephritis, Thr...	OMIM:301050
Primary Fanconi Renotubular Syndrome	Generalized aminoaciduria, Abnormal urine pH, Bicarbonate-wasting renal tubular acidosis, Hypopho...	ORPHA:3337
46,Xy Sex Reversal 4	Increased blood urea nitrogen, Ureteropelvic junction obstruction, Hydronephrosis, Renal dysplasi...	OMIM:154230
Mitochondrial Complex I Deficiency, Nuclear Type 39	Cardiomegaly, Anemia	OMIM:620135
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Decreased glomerular filtration rate, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Fa...	ORPHA:488627
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Renal salt wasting, Polyuria, Decreased glomerular filtration rate, Hyperchloriduria, Hypokalemia...	OMIM:613090
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Calcinosis, Hypokalemia, Hypocalcemia, Renal artery stenosis, Growth delay, Renal hypoplasia, Hyp...	OMIM:617913
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Hypouricemia, Neutropenia in presence of anti-neutropil antibodies, ...	OMIM:613179
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Hyperammonemia, Splenomegaly, Hepatic f...	OMIM:271500
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly...	ORPHA:39041
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Large for gestational age, Hypophosphatemic rickets, Hepatomegaly, Increased hepatic glycogen con...	ORPHA:263455
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Pancytopenia, Increased blood urea nitrogen, Failure to thrive, Elevated circulatin...	OMIM:617872
Desmoplastic Small Round Cell Tumor	Hepatomegaly, Anemia, Lymphadenopathy, Neoplasm of the pancreas, Abnormal peritoneum morphology, ...	ORPHA:83469
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Jaundice, Hepatomegaly, Generalized aminoaciduria, Renal cortical cysts, Polyc...	OMIM:231680
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Hepatomegaly, Abnormal neutrophil count, Lymphadenopathy, Myeloproliferative diso...	ORPHA:3226
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Talipes, Radial deviation o...	OMIM:227270
Glycogen Storage Disease Ic	Delayed puberty, Hepatomegaly, Hematuria, Decreased glomerular filtration rate, Chronic pancreati...	OMIM:232240
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin level, Increased ...	ORPHA:98813
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Hypothermia, Cholelithiasis, Normochromic anemia, Elevated circulating creatine kinase concentrat...	OMIM:618775
Slc35A2-Cdg	Hip subluxation, Abnormal long bone morphology, Talipes equinovarus, Metatarsus adductus, Camptod...	ORPHA:356961
Legionnaires Disease	Jaundice, Hematuria, Pancreatitis, Lymphadenopathy, Hepatitis, Hyponatremia, Bone marrow hypocell...	ORPHA:549
Congenital Disorder Of Glycosylation, Type Iiaa	Hepatomegaly, Unilateral renal agenesis, Cholestasis, Biliary cirrhosis, Hyperammonemia, Hydronep...	OMIM:620454
Autosomal Erythropoietic Protoporphyria	Decreased liver function, Cirrhosis, Cholelithiasis, Abnormal circulating porphyrin concentration...	ORPHA:79278
Familial Benign Copper Deficiency	Anemia, Decreased circulating copper concentration	ORPHA:1551
Atresia Of Urethra	Hydroureter, Recurrent urinary tract infections, Dilatation of the bladder, Vesicoureteral reflux...	ORPHA:105
Hereditary Orotic Aciduria	Anemia, Splenomegaly, Impaired T cell function	ORPHA:30
Wild Type Attr Amyloidosis	Hepatomegaly, Renal insufficiency, Nephrotic syndrome, Proteinuria, Weight loss, Nephropathy	ORPHA:330001
Griscelli Syndrome Type 2	Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Hyperlipidemia, Splenome...	ORPHA:79477
Oslam Syndrome	Anemia	OMIM:165660
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic dyserythropoietic anemia, Macrocytic anemia	OMIM:619789
Orotic Aciduria	Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemia...	OMIM:258900
Aceruloplasminemia	Aceruloplasminemia, Increased circulating ferritin concentration, Anemia, Decreased circulating i...	OMIM:604290
Webb-Dattani Syndrome	Hyposthenuria, Neurogenic bladder, Vesicoureteral reflux, Short stature, Hypernatremia, Obesity, ...	OMIM:615926
Tubulointerstitial Nephritis And Uveitis Syndrome	Renal tubular epithelial necrosis, Renal lymphocytic tubulitis, Renal interstitial edema, Decreas...	ORPHA:91500
Prune Belly Syndrome	Hydroureter, Renal insufficiency, Abnormality of the bladder, Recurrent urinary tract infections,...	ORPHA:2970
Adult-Onset Still Disease	Abnormal circulating lipid concentration, Increased circulating ferritin concentration, Hepatomeg...	ORPHA:829
Congenital Disorder Of Glycosylation, Type Iif	Thrombocytopenia, Proteinuria, Macrothrombocytopenia, Aminoaciduria, Neutropenia	OMIM:603585
Verheij Syndrome	Renal cyst, Renal agenesis, Renal hypoplasia, Short stature, Growth delay, Intrauterine growth re...	OMIM:615583
Atelis Syndrome 1	Thrombocytopenia, Leukopenia, Anemia, Decreased lymphocyte proliferation in response to anti-CD3	OMIM:620184
Mevalonic Aciduria	Fluctuating splenomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concen...	OMIM:610377
Ddost-Cdg	Short stature, Failure to thrive, Nephrotic range proteinuria, Hepatic steatosis	ORPHA:300536
Trichothiodystrophy 6, Nonphotosensitive	Increased HbA2 hemoglobin, Decreased mean corpuscular volume	OMIM:616943
Xfe Progeroid Syndrome	Defective DNA repair after ultraviolet radiation damage, Cachexia, Ascites, Failure to thrive, Se...	OMIM:610965
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Renal tubular acidosis, Renal cyst, Renal hypoplasia, Renal dysplasia, Hepatic stea...	OMIM:614922
Cinca Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leu...	ORPHA:1451
Osteofibrous Dysplasia, Susceptibility To	Fibular hypoplasia, Pseudoarthrosis	OMIM:607278
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Impaired ristocetin-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Incr...	OMIM:153670
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia	OMIM:612561
Bardet-Biedl Syndrome 6	Obesity, Hypospadias, Renal cyst	OMIM:605231
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Jaundice, Hepatomegaly, Abnormal immunoglobulin level, Decreased lymphocyte proliferation in resp...	ORPHA:276
Megaloblastic Anemia, Folate-Responsive	Increased circulating ferritin concentration, Hyperhomocystinemia, Folate-responsive megaloblasti...	OMIM:601775
Orofaciodigital Syndrome Ix	Toe syndactyly, Hand polydactyly, Short tibia, Camptodactyly	OMIM:258865
Eosinophilic Gastroenteritis	Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Ascites, Eosinophili...	ORPHA:2070
X-Linked Agammaglobulinemia	Anemia, Hypocalcemia, Abnormality of the tonsils, Abnormality of the lymphatic system, Thrombocyt...	ORPHA:47
22Q11.2 Duplication Syndrome	Growth delay, Hydronephrosis, Displacement of the urethral meatus, Urethral stenosis, Aplasia/Hyp...	ORPHA:1727
Gaucher Disease, Type I	Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hypersplenism	OMIM:230800
Sepsis In Premature Infants	Decreased liver function, Jaundice, Anemia, Hepatomegaly, Increased circulating interleukin 6 con...	ORPHA:90051
Bardet-Biedl Syndrome 12	Hydroureter, Abdominal mass, Obesity, Hydronephrosis, Cystic renal dysplasia	OMIM:615989
Sialidosis Type 2	Hepatomegaly, Ascites, Short stature, Splenomegaly, Nephropathy	ORPHA:87876
Thymoma	Aplastic anemia, Decreased circulating antibody level, Abnormal lymphocyte physiology, Pure red c...	ORPHA:99867
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Postnatal growth retardation, Hepatomegaly, Hypocalcemia, Abnormal renal morphology, Hypoproteine...	ORPHA:1655
Birt-Hogg-Dube Syndrome 1	Renal neoplasm, Renal cell carcinoma, Renal cyst	OMIM:135150
Toluene Embryopathy	Short stature, Hydronephrosis, Abnormal localization of kidney	ORPHA:1920
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Duplicated collecting system, Cholestasis, Growth delay, Hydronephrosis, Hepatosplenomegaly, Decr...	ORPHA:541423
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease	Renal artery stenosis, Proteinuria, Nephropathy	OMIM:209010
Wolfram Syndrome 1	Hydroureter, Neurogenic bladder, Megaloblastic anemia, Growth delay, Sideroblastic anemia, Hydron...	OMIM:222300
Peroxisome Biogenesis Disorder 4A (Zellweger)	Increased circulating very long-chain fatty acid concentration, Hepatomegaly, Renal cyst	OMIM:614862
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Intrauterine growth retardation, Hydronephrosis, Growth delay, Hypoplasia of penis	ORPHA:2083
Bent Bone Dysplasia Syndrome 2	Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplastic acetabulae, Femoral bowing, Shor...	OMIM:620076
Transaldolase Deficiency	Decreased liver function, Cirrhosis, Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Hepato...	OMIM:606003
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
3-Methylglutaconic Aciduria Type 7	3-Methylglutaconic aciduria, Infection associated neutropenia, Renal cyst, Growth delay, Bone mar...	ORPHA:445038
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Increased mean platelet volume, Hydronephrosis, Thrombocytopenia	OMIM:300048
Osteootohepatoenteric Syndrome	Portal fibrosis, Increased serum bile acid concentration, Hypokalemia, Anemia, Microvesicular hep...	OMIM:619377
Diaphanospondylodysostosis	Multiple renal cysts	ORPHA:66637
Weyers Ulnar Ray/Oligodactyly Syndrome	Hydronephrosis	OMIM:602418
Ollier Disease	Lymphangioma, Anemia	ORPHA:296
Prune Belly Syndrome	Hydronephrosis, Hydroureter, Congenital posterior urethral valve	OMIM:100100
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Hydronephrosis	OMIM:618060
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration,...	OMIM:617388
Tufted Angioma	Thrombocytopenia, Anemia	ORPHA:1063
Congenital Disorder Of Glycosylation, Type Ig	Hypoplasia of the radius, Rhizomelia, Sandal gap, Short ribs, Short humerus, Short femur, Short t...	OMIM:607143
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Hepatomegaly, Hypospadias, Duplicated collecting system, Vesicoureteral reflux, Elevated circulat...	OMIM:301056
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	Growth delay, Failure to thrive, Hydronephrosis	ORPHA:488613
Johanson-Blizzard Syndrome	Anemia, Hypospadias, Hypoplasia of penis, Hypoproteinemia, Short stature, Failure to thrive, Hydr...	ORPHA:2315
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts	OMIM:173900
Congenital Disorder Of Glycosylation, Type Ia	Hepatomegaly, Thrombocytosis, Proximal tubulopathy, Hepatic fibrosis, Renal cyst, Nephrotic syndr...	OMIM:212065
Proximal Renal Tubular Acidosis	Low-molecular-weight proteinuria, Bicarbonaturia, Global proximal tubulopathy, Hypokalemia, Hyper...	ORPHA:47159
Letterer-Siwe Disease	Jaundice, Anemia, Thrombocytopenia, Hepatosplenomegaly, Neutropenia	OMIM:246400
Pediatric Systemic Lupus Erythematosus	Hematuria, Lymphadenopathy, Abnormality of the urinary system, Ascites, Nephrotic syndrome, Nephr...	ORPHA:93552
Tetrasomy 15Q26	Intrauterine growth retardation, Hydronephrosis, Horseshoe kidney	OMIM:614846
Fliedner-Zweier Syndrome	Obesity, Hydronephrosis, Multicystic kidney dysplasia, Unilateral renal agenesis	OMIM:620511
Copper Deficiency, Familial Benign	Anemia, Decreased circulating copper concentration	OMIM:121270
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Pancreatitis, Hypocalciuria, Parathormone-independent increased renal tubular ca...	OMIM:600740
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemic seizures, Unilateral renal agenesis, Hypocalcemia, Polycystic kidney dysplasia, Seve...	ORPHA:2237
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Delayed puberty, Hepatocellular adenoma, Portal fibrosis, Myoglobinuria, In...	ORPHA:264580
Felty Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Bone marrow hypocellularit...	ORPHA:47612
Renal Agenesis	Unilateral renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis, Renal age...	ORPHA:411709
Genetic Recurrent Myoglobinuria	Hyperkalemia, Acute kidney injury, Exercise-induced myoglobinuria, Recurrent myoglobinuria, Hypoc...	ORPHA:99845
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Genu valgum, Fibular bowing, Rickets of the lower limbs, Delayed epiphyseal ossification, Tibial ...	OMIM:600785
Sézary Syndrome	Hepatomegaly, Abnormal immunoglobulin level, Lymphadenopathy, Abnormal lymphocyte morphology, Spl...	ORPHA:3162
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Poikilocytosis, Anemia of inadequate production, Acanthocytosis, Congenital thrombocytopenia	OMIM:300367
Acromesomelic Dysplasia 3	Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto...	OMIM:609441
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Jaundice, Pancreatic cysts, Renal cyst, Polycystic liver disease, Bile duct proliferation, Short ...	OMIM:208500
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Portal hyper...	OMIM:617068
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Lymphadenopathy, Lymphocytosis, Myeloproliferative disorder, Abnormality of the spl...	ORPHA:79456
9Q21.13 Microdeletion Syndrome	Postnatal growth retardation, Hydronephrosis	ORPHA:531151
Meckel Syndrome, Type 8	Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys	OMIM:613885
Galloway-Mowat Syndrome 3	Glomerular sclerosis, Nephrotic syndrome, Short stature, Failure to thrive, Diffuse mesangial scl...	OMIM:617729
Severe Oculo-Renal-Cerebellar Syndrome	Short stature, Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:2715
Congenital Disorder Of Glycosylation, Type Iiw	Hepatomegaly, Anemia, Bile duct proliferation, Microscopic hematuria, Prolonged neonatal jaundice...	OMIM:619525
Congenital Disorder Of Glycosylation, Type Iil	Decreased specific anti-polysaccharide antibody level, Cirrhosis, Hepatomegaly, Unilateral renal ...	OMIM:614576
Mcleod Syndrome	Hepatomegaly, Reduced haptoglobin level, Elevated circulating creatine kinase concentration, Elev...	OMIM:300842
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Hyperlipidemia, Portal hy...	ORPHA:1414
Icf Syndrome	Decreased circulating antibody level, Abnormality of neutrophils, Anemia, Lymphopenia	ORPHA:2268
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Macrocytic anemia, Reduction of neutrophil motility, Rectal abscess, Leukocytosis, Neutrophilia, ...	OMIM:608203
Ornithine Transcarbamylase Deficiency	Hyperammonemia, Splenomegaly, Aminoaciduria	ORPHA:664
Protoporphyria, Erythropoietic, 1	Hypertriglyceridemia, Cholelithiasis, Hemolytic anemia, Hepatic failure	OMIM:177000
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Acute kidney injury, Exercise-induced myoglobinuria, Elevated creatine kinase after exercise, Hyp...	ORPHA:284426
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypospadias, Small for gestational age, Ascites, Hydronephrosis, Cardiomegaly, Micropenis, Intrau...	OMIM:616897
Becker Muscular Dystrophy	Myoglobinuria, Abnormal urinary color, Elevated circulating creatine kinase concentration	ORPHA:98895
Hemolytic Anemia, Congenital, X-Linked	Jaundice, Hemolytic anemia	OMIM:301015
Lethal Congenital Contracture Syndrome 2	Hydronephrosis	OMIM:607598
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent...	ORPHA:247598
Diabetic Embryopathy	Renal hypoplasia/aplasia, Ureteral duplication, Hydronephrosis, Micropenis, Abnormality of the pa...	ORPHA:1926
Hereditary Pheochromocytoma-Paraganglioma	Hematuria, Glomerular sclerosis, Elevated urinary epinephrine level, Elevated urinary norepinephr...	ORPHA:29072
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Hepatic steatosis, Hepatomegaly, Myoglobinuria, Red-brown urine, Elevated circulating creatine ki...	ORPHA:228305
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r...	OMIM:620367
Renal-Hepatic-Pancreatic Dysplasia 1	Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Splenomegaly, Stage 5 c...	OMIM:208540
Stormorken Syndrome	Anemia, Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Hypopl...	OMIM:185070
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Postnatal growth retardation, Hepatocellular adenoma, Cirrhosis, Hepatomega...	ORPHA:79240
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Hepatomegaly, Decreased ...	OMIM:102700
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Anemia, Hypocalcemic seizures, Decreased circulating IgG level, Splenomegaly, Decre...	OMIM:612301
Intermediate Osteopetrosis	Hepatosplenomegaly, Anemia	ORPHA:210110
Spondyloepimetaphyseal Dysplasia, Missouri Type	Rhizomelia, Small epiphyses, Ulnar bowing, Metaphyseal cupping, Flared metaphysis, Tibial bowing,...	OMIM:602111
Trisomy 17P	Hypoplasia of penis, Polycystic kidney dysplasia, Short stature, Growth delay, Urethral valve, Hy...	ORPHA:261290
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Acute kidney injury, Stage 4 chronic kidney disease, Renal insufficiency, Hyperuricemia, Uric aci...	ORPHA:411536
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ...	OMIM:616959
Shwachman-Diamond Syndrome 1	Hepatomegaly, Anemia, Acute myeloid leukemia, Elevated circulating hepatic transaminase concentra...	OMIM:260400
Grant Syndrome	Micrognathia, Tibial bowing, Down-sloping shoulders	OMIM:138930
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Renal dysplasia, Renal hypoplasia, Ureteral agenesis, Renal cyst	OMIM:236500
Congenital Disorder Of Glycosylation, Type Iig	Postnatal growth retardation, Hemolytic-uremic syndrome, Hypospadias, Giant platelets, Anemia, Rh...	OMIM:611209
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Polycystic kidney dysplasia, Ascites, Failure to thrive, Splenomegaly, Hypoalbumine...	OMIM:608776
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Patellar hypoplasia, Absent tibia, Bilateral talipes equinovarus, Mirror image foot polydactyly, ...	OMIM:119800
Suleiman-El-Hattab Syndrome	Failure to thrive, Hydronephrosis	OMIM:618950
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated...	OMIM:609945
Galloway-Mowat Syndrome	Nephrotic syndrome, Short stature, Proteinuria, Intrauterine growth retardation, Nephropathy	ORPHA:2065
Congenital Disorder Of Glycosylation, Type Ih	Decreased liver function, Hepatomegaly, Anemia, Cholestasis, Ascites, Thrombocytopenia, Hypoalbum...	OMIM:608104
Sting-Associated Vasculopathy, Infantile-Onset	Anemia, Elevated circulating C-reactive protein concentration, Increased circulating IgG level, I...	OMIM:615934
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Hypocalcemia, Hypoproteinemia, Pancreatic lymphangiectasis, Ascites, Hydronephrosis...	OMIM:235255
Ritscher-Schinzel Syndrome 1	Intrauterine growth retardation, Hydronephrosis, Hypospadias	OMIM:220210
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Renal hypoplasia, Hydronephrosis, Unilateral renal agenesis	OMIM:618494
Osteosclerosis With Ichthyosis And Fractures	Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses	OMIM:166740
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Microcytic anemia	ORPHA:98791
Hyperlysinemia, Type I	Hypoornithinemia, Anemia, Hyperlysinemia	OMIM:238700
Distal Triplication 15Q	Abnormality of the kidney, Large for gestational age, Polycystic kidney dysplasia, Intrauterine g...	ORPHA:314588
Tyrosinemia, Type I	Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Hypophosphatemic rickets, Cirrhosis,...	OMIM:276700
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, B lymphocytopenia, Decreased circulating antibody level, Siderobla...	OMIM:616084
Bardet-Biedl Syndrome 17	Polyuria, Renal cyst, Obesity, Stage 5 chronic kidney disease, Micropenis	OMIM:615994
Pearson Marrow-Pancreas Syndrome	Hepatomegaly, Refractory sideroblastic anemia, Anemia, Elevated circulating hepatic transaminase ...	OMIM:557000
Fabry Disease	Delayed puberty, Urinary mulberry cells, Anemia, Proteinuria, Lipiduria, Left ventricular hypertr...	OMIM:301500
Trisomy 13	Abnormality of the ureter, Hydronephrosis, Displacement of the urethral meatus, Multiple renal cy...	ORPHA:3378
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Thrombocytopenia, Anemia, Portal hypertension, Lymphopenia	OMIM:620365
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration,...	OMIM:620565
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Femoral bowing, Short ribs, Sho...	OMIM:613091
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Exercise-induced myoglobinuria, Highly elevated creatine kinase	ORPHA:352479
Renal Hypodysplasia/Aplasia 1	Renal dysplasia, Bilateral renal agenesis, Proteinuria	OMIM:191830
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Enlarged kidney, Anemia, Nephrotic syndrome, Decreased circulating IgG level, Increased circulati...	ORPHA:505248
Transketolase Deficiency	Hepatomegaly, Increased level of ribose in urine, Elevated circulating ribitol concentration, Ren...	ORPHA:488618
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Infantile Nephropathic Cystinosis	Low-molecular-weight proteinuria, Hypokalemia, Growth delay, Glycosuria, Hyperphosphaturia, Renal...	ORPHA:411629
Shox-Related Short Stature	Ulnar radial head dislocation, Genu valgum, Tibial bowing, Forearm undergrowth, Micrognathia, Low...	ORPHA:314795
Rh-Null, Regulator Type	Stomatocytosis, Jaundice, Hemolytic anemia, Unconjugated hyperbilirubinemia	OMIM:268150
Pseudo-Torch Syndrome 2	Hepatomegaly, Thrombocytopenia, Ascites, Abnormal renal corticomedullary differentiation	OMIM:617397
Corticosteroid-Binding Globulin Deficiency	Reduced circulating cortisol-binding globulin concentration, Anemia, Hypokalemia	OMIM:611489
Drug-Induced Lupus Erythematosus	Anemia, Elevated circulating C-reactive protein concentration, Elevated circulating creatine kina...	ORPHA:231111
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Exercise-induced myoglobinuria, Dicarboxylic aciduria, Hepatomegaly, Decreased circulating carnit...	OMIM:201475
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Portal fibrosis, Increased serum bil...	OMIM:602347
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Increased total bilirubin, Splenomegaly	ORPHA:90037
Polysyndactyly With Cardiac Malformation	Hepatic cysts, Renal cyst	OMIM:263630
Primary Hyperoxaluria Type 3	Hematuria, Calcium oxalate nephrolithiasis, Hyperoxaluria, Pollakisuria, Dysuria, Abnormality of ...	ORPHA:93600
Myoglobinuria, Recurrent	Exercise-induced myoglobinuria, Recurrent myoglobinuria	OMIM:550500
Chediak-Higashi Syndrome	Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Leukopenia, Splenomegaly, Impa...	OMIM:214500
Insulin-Resistance Syndrome Type B	Abnormal circulating lipid concentration, Hypotriglyceridemia, Increased circulating IgG level, I...	ORPHA:2298
Kury-Isidor Syndrome	Growth delay, Hydronephrosis	OMIM:619762
Mitochondrial Trifunctional Protein Deficiency 1	Myoglobinuria, Cholestasis, Elevated circulating creatine kinase concentration, Hyperammonemia, F...	OMIM:609015
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Impaired colla...	OMIM:139090
Autosomal Recessive Polycystic Kidney Disease	Enlarged kidney, Cholestasis, Ascites, Biliary hyperplasia, Splenomegaly, Abnormal intrahepatic b...	ORPHA:731
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Elliptocytosis, Anemia of inadequate production, Hemolytic anemia	OMIM:166910
Joubert Syndrome 2	Failure to thrive, Nephronophthisis, Renal insufficiency, Renal cyst	OMIM:608091
Vacterl/Vater Association	Abnormality of the gallbladder, Ectopic kidney, Hypospadias, Hypoplasia of penis, Renal agenesis,...	ORPHA:887
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Anemia, B lymphocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Leukopenia, Thrombocyt...	ORPHA:508542
Zellweger Syndrome	Jaundice, Hepatomegaly, Hypospadias, Short stature, Failure to thrive, Hydronephrosis, Multicysti...	ORPHA:912
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Ectopic kidney, Unilateral renal agenesis, Renal insufficiency, Horseshoe kidney, Vesicoureteral ...	OMIM:617641
Hydatidiform Mole	Anemia	ORPHA:99927
Structural Heart Defects And Renal Anomalies Syndrome	Elevated circulating creatinine concentration, Renal insufficiency, Renal cyst	OMIM:617478
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Dicarboxylic aciduria, Decreased circulating carnitine concentration, Myoglobinuria, Abnormal cir...	ORPHA:71212
Common Variable Immunodeficiency	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Decreased circulating a...	ORPHA:1572
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Vesicoureteral reflux, Renal hypoplasia, Ureteropelvic junction obstru...	OMIM:610805
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Polycystic kidney dysplasia, Hepatic cysts	OMIM:600666
Femoral-Facial Syndrome	Abnormal fibula morphology, Abnormal pelvic girdle bone morphology, Coxa vara, Aplasia/Hypoplasia...	ORPHA:1988
Epidermolysis Bullosa Simplex With Pyloric Atresia	Glomerular sclerosis, Aplasia of the bladder, Elevated circulating creatine kinase concentration,...	ORPHA:158684
Castleman Disease	Jaundice, Hematuria, Increased circulating interleukin 6 concentration, Elevated circulating C-re...	ORPHA:160
ERI1-related disease	Vesicoureteral reflux, Decreased body weight, Short stature, Failure to thrive, Hydronephrosis, I...	OMIM:608739
Propionic Acidemia	Hepatomegaly, Pancreatitis, Anemia, Pancytopenia, Hyperammonemia, Thrombocytopenia, Hyperglycinem...	OMIM:606054
3-Hydroxy-3-Methylglutaric Aciduria	Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyperuri...	ORPHA:20
Dermotrichic Syndrome	Anemia	ORPHA:99688
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Increased size of nasopharyngeal adenoids, Persistence of hemoglobin F	OMIM:619769
Hypophosphatasia	Hypercalcemia, Anemia	ORPHA:436
X-Linked Intellectual Disability Due To Gria3 Mutations	Short stature, Slender build, Hydronephrosis, Micropenis	ORPHA:364028
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Dicarboxylic aciduria, Myoglobinuria, Growth delay, Hepatic necrosis, Hepatic steatosis	OMIM:231530
Trisomy X	Renal hypoplasia/aplasia, Multicystic kidney dysplasia	ORPHA:3375
Methylmalonic Aciduria, Cblb Type	Elevated circulating methylmalonylcarnitine concentration, Hepatomegaly, Anemia, Methylmalonic ac...	OMIM:251110
Congenital Disorder Of Glycosylation, Type Iie	Jaundice, Hepatomegaly, Neurogenic bladder, Elevated circulating creatine kinase concentration, S...	OMIM:608779
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Short stature, Multicystic kidney dysplasia, Renal cyst, Congenital hepatic fibrosis	ORPHA:2031
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l...	ORPHA:98849
Joubert Syndrome 5	Nephronophthisis, Renal cortical cysts, Impaired renal concentrating ability, Reduced renal corti...	OMIM:610188
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, H...	OMIM:615895
Malignant Hyperthermia, Susceptibility To, 1	Hyperkalemia, Myoglobinuria, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:145600
Bacterial Toxic-Shock Syndrome	Increased circulating metamyelocyte count, Hypocalcemia, Recurrent urinary tract infections, Incr...	ORPHA:36234
Meckel Syndrome, Type 3	Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Multicystic kidney dysplasia, Malformati...	OMIM:607361
Meckel Syndrome, Type 10	Malformation of the hepatic ductal plate, Micropenis, Hypospadias, Renal cyst	OMIM:614175
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Short stature, Hepatomegaly, Abnormality of the urinary system, Splenomegaly	ORPHA:2204
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Renal hypoplasia/aplasia, Hydroureter, Urogenital sinus anomaly, Hydronephrosis, Displacement of ...	ORPHA:2973
Microphthalmia, Syndromic 9	Multilobulated spleen, Pelvic kidney, Short stature, Renal hypoplasia, Hydronephrosis, Hypoplasti...	OMIM:601186
Congenital Disorder Of Glycosylation, Type Iit	Decreased HDL cholesterol concentration, Urinary incontinence, Iron deficiency anemia, Hypotrigly...	OMIM:618885
Lymphatic Filariasis	Abnormality of the kidney, Lymphangiectasis, Hematuria, Lymphadenopathy, Urethral obstruction, Ab...	ORPHA:2035
Adams-Oliver Syndrome 6	Renal hypoplasia, Hepatic fibrosis, Splenomegaly, Portal hypertension	OMIM:616589
Meckel Syndrome, Type 7	Multiple glomerular cysts, Cholestasis, Biliary cirrhosis, Portal hypertension, Bile duct prolife...	OMIM:267010
Elliptocytosis 3	Pyropoikilocytosis, Chronic hemolytic anemia, Intermittent jaundice, Elliptocytosis, Decreased me...	OMIM:617948
Mesomelia-Synostoses Syndrome	Short stature, Hydronephrosis	ORPHA:2496
Cranioectodermal Dysplasia 3	Cirrhosis, Nephronophthisis, Rhizomelia, Short stature, Stage 5 chronic kidney disease	OMIM:614099
Interstitial Lung And Liver Disease	Cirrhosis, Hepatomegaly, Anemia, Intraalveolar phospholipid accumulation, Cholestasis, Elevated c...	OMIM:615486
Branchio-Oculo-Facial Syndrome	Renal agenesis, Short stature, Hydronephrosis, Intrauterine growth retardation, Multicystic kidne...	ORPHA:1297
Peroxisome Biogenesis Disorder 1B	Cirrhosis, Hepatomegaly, Hyperoxaluria, Renal cyst, Hepatic fibrosis	OMIM:601539
Acute Lung Injury	Abnormal circulating cytokine concentration, Increased circulating interleukin 6 concentration, E...	ORPHA:178320
Microcephaly 26, Primary, Autosomal Dominant	Short stature, Failure to thrive, Hydronephrosis	OMIM:619179
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Hepatomegaly, Decreased circulating carnitine concentration, Polycystic kidney...	ORPHA:26791
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Anemia, Abnormality of the pancreas, Lymphopenia	ORPHA:935
Ophthalmomandibulomelic Dysplasia	Fibular hypoplasia, Ulnar deviated club hands, Mesomelia, Radial bowing, Lateral humeral condyle ...	OMIM:164900
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, Short ribs, F...	OMIM:616300
Immunodeficiency, Common Variable, 8, With Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, Pancytopenia, Decreased proportion of class-switche...	OMIM:614700
Junctional Epidermolysis Bullosa With Pyloric Atresia	Hematuria, Aplasia of the bladder, Ureterocele, Hydronephrosis, Renal duplication, Urethral stric...	ORPHA:79403
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Intrauterine growth retardation, Multiple bladder diverticula, Postnatal growth retardation, Prot...	ORPHA:2728
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Intellectual Developmental Disorder, X-Linked 112	Ectopic kidney, Hypospadias, Horseshoe kidney, Enuresis nocturna, Vesicoureteral reflux, Enuresis...	OMIM:301111
Alveolar Echinococcosis	Jaundice, Anemia, Increased circulating antibody level, Cholangitis, Liver abscess, Abnormal blad...	ORPHA:284
Glycogen Storage Disease Ixd	Exercise-induced myoglobinuria, Elevated circulating creatine kinase concentration	OMIM:300559
Congenital Disorder Of Glycosylation, Type It	Delayed puberty, Intrahepatic cholestasis, Hepatomegaly, Increased hepatic glycogen content, Elev...	OMIM:614921
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Bone marrow hypocellularity, Thrombocytopenia, Anemia, Neutropenia	OMIM:614520
Wilson Disease	Portal fibrosis, Ascites, Splenomegaly, High nonceruloplasmin-bound serum copper, Hepatic steatos...	OMIM:277900
Caroli Disease	Cirrhosis, Jaundice, Intrahepatic cholestasis, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a...	ORPHA:53035
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Myoglobinuria, Elevated circulating creatine kinase concentration	ORPHA:119
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Acute kidney injury, Glomerulopathy, Jaundice, Abnormality of endocrine pancreas physiology, Hypo...	ORPHA:93111
Combined Oxidative Phosphorylation Deficiency 40	Decreased liver function, Anemia, Elevated circulating creatine kinase concentration	OMIM:618835
Autoinflammatory Disease, Systemic, With Vasculitis	Cholestasis, Increased T cell count, Splenomegaly, Cardiomegaly, Jaundice, Increased circulating ...	OMIM:620376
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Stage 5 chronic kidney disease, Proteinuria	OMIM:219900
3-Methylglutaconic Aciduria, Type Viia	Anisopoikilocytosis, Anemia, Neutropenia	OMIM:619835
Combined Oxidative Phosphorylation Deficiency 42	Decreased liver function, Anemia, Elevated circulating creatine kinase concentration	OMIM:618839
Peroxisome Biogenesis Disorder 2A (Zellweger)	Jaundice, Hepatomegaly, Polycystic kidney dysplasia, Intrahepatic biliary dysgenesis, Elevated ci...	OMIM:214110
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly	OMIM:619183
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Anemia, Pancytopenia, Hypocalcemia, Thrombocytopenia, Splenomegaly	OMIM:259700
Donnai-Barrow Syndrome	Proteinuria	ORPHA:2143
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Enlarged kidney, Hydronephrosis, Urethral atresia	OMIM:314390
Anemia, Congenital Dyserythropoietic, Type Iiia	Jaundice, Reduced haptoglobin level, Macrocytic anemia, Anemia of inadequate production, Congenit...	OMIM:105600
Zaki Syndrome	Renal agenesis, Hydronephrosis, Short stature	OMIM:619648
Muckle-Wells Syndrome	Delayed puberty, Hepatomegaly, Anemia, Nephrotic syndrome, Short stature, Splenomegaly, Renal amy...	ORPHA:575
Dopamine Beta-Hydroxylase Deficiency	Anemia, Elevated urinary dopamine level, Increased blood urea nitrogen, Nocturia, Elevated circul...	ORPHA:230
Agammaglobulinemia, X-Linked	Anemia, Decreased circulating IgE, B lymphocytopenia, Hepatocellular carcinoma, Enteroviral hepat...	OMIM:300755
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Neutrophilic Dermatosis, Acute Febrile	Increased circulating interleukin 6 concentration, Anemia, Elevated circulating C-reactive protei...	OMIM:608068
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Anemia, Vesicoureteral reflux, Renal cyst, Short stature, Renal hypoplasia,...	OMIM:618460
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Pericardial lymphangiectasia, Intestinal lymphangiectasia, Ectopic kidney, Pleural lymphangiectas...	OMIM:235510
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal reticulocyte morphology	ORPHA:2522
Noonan Syndrome 4	Large for gestational age, Ureteral duplication, Short stature, Hydronephrosis, Thrombocytopenia	OMIM:610733
Intellectual Disability, Buenos-Aires Type	Short stature, Hydronephrosis	ORPHA:3079
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hypospadias, Polycystic kidney dysplasia, Ascites, Renal cyst, Short stature, Renal hypoplasia, H...	OMIM:614091
Meckel Syndrome, Type 5	Renal cyst, Bile duct proliferation	OMIM:611561
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Glomerulopathy, Microscopic hematuria, Elliptocytosis, Proteinuria, Renal insufficiency	ORPHA:86818
17Q12 Microdeletion Syndrome	Renal hypoplasia/aplasia, Renal insufficiency, Pancreatic aplasia, Ureterocele, Short stature, Mu...	ORPHA:261265
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Anemia	ORPHA:3405
Yellow Fever	Acute kidney injury, Jaundice, Increased circulating interleukin 6 concentration, Hyperbilirubine...	ORPHA:99829
Renal-Hepatic-Pancreatic Dysplasia 2	Enlarged kidney, Hepatomegaly, Cholestasis, Asplenia, Hepatic cysts, Hepatic fibrosis, Malformati...	OMIM:615415
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Perianal abscess, Increased circulating interleukin 6 concentration, Iron deficiency anemia, Thro...	OMIM:301074
Meckel Syndrome, Type 2	Intrauterine growth retardation, Renal cyst, Bile duct proliferation	OMIM:603194
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Hemolytic anemia	ORPHA:169090
Micro Syndrome	Delayed puberty, Hypoplasia of penis, Short stature, Hydronephrosis, Abnormal localization of kid...	ORPHA:2510
Melnick-Needles Syndrome	Short stature, Hydronephrosis, Vesicoureteral reflux	ORPHA:2484
Pheochromocytoma--Islet Cell Tumor Syndrome	Hypercalcemia, Elevated urinary norepinephrine level, Proteinuria	OMIM:171420
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hyperkalemia, Jaundice, Hepatomegaly, Splenomegaly, Conjugated hyperbilirubinemia, Stomatocytosis...	OMIM:608885
Eosinophilic Granulomatosis With Polyangiitis	Glomerulopathy, Hematuria, Proteinuria, Weight loss, Eosinophilia, Renal insufficiency, Tubuloint...	ORPHA:183
Al-Gazali Syndrome	Failure to thrive, Hydronephrosis	OMIM:609465
Ventriculomegaly With Cystic Kidney Disease	Renal insufficiency, Tubular luminal dilatation, Renal corticomedullary cysts, Hyperechogenic kid...	OMIM:219730
Lymphedema-Distichiasis Syndrome	Glomerulopathy, Recurrent urinary tract infections, Renal duplication, Proteinuria, Tubulointerst...	ORPHA:33001
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Splenic cyst, Increased circulating thyroglobulin concentration, Polycystic kidney ...	OMIM:610199
Mitochondrial Trifunctional Protein Deficiency 2	Increased circulating NT-proBNP concentration, Recurrent myoglobinuria, Myoglobinuria, Elevated c...	OMIM:620300
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Intrauterine growth retardation, Hydronephrosis	OMIM:620327
Gaisböck Syndrome	Hypertriglyceridemia, Increased red blood cell count, Elevated plasma cell count, Increased mean ...	ORPHA:90041
Galloway-Mowat Syndrome 1	Focal segmental glomerulosclerosis, Nephrotic syndrome, Short stature, Proteinuria, Intrauterine ...	OMIM:251300
Gaucher Disease Type 3	Delayed puberty, Hepatomegaly, Hematuria, Increased circulating antibody level, Anemia, Pancytope...	ORPHA:77261
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Growth delay, Renal hypoplasia, Absence of renal corticomedullary differentiation	OMIM:619758
Paroxysmal Cold Hemoglobinuria	Autoimmune hemolytic anemia, Coombs-positive hemolytic anemia, Abnormal urinary color, Hemoglobin...	ORPHA:90035
Kleefstra Syndrome	Hypospadias, Hypoplasia of penis, Vesicoureteral reflux, Renal cyst, Short stature, Obesity, Hydr...	ORPHA:261494
Renal Nutcracker Syndrome	Hematuria, Anemia, Renal artery stenosis, Microscopic hematuria, Proteinuria, Weight loss	ORPHA:71273
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Acute kidney injury, Ureteral duplication, Nephronophthisis, Cholangitis, Anemia, Hepatomegaly, R...	OMIM:266920
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	3-Methylglutaconic aciduria, Hepatomegaly, Neutropenia, Myoglobinuria, Elevated circulating creat...	OMIM:251900
Ohdo Syndrome	Short stature, Proteinuria	OMIM:249620
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Large for gestational age, Hydroureter, Hypercalciuria, Renal cyst, Ureteral stenosis, Nephrocalc...	OMIM:615398
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Exocrine pancreatic insufficiency, Elevated hemoglobin A1c	OMIM:609812
Kikuchi-Fujimoto Disease	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Elevated circulating C-rea...	ORPHA:50918
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Increased circulating IgA level, Abnormal circulating IgG level, Increased ...	OMIM:300291
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Anemia, Erythroid hypoplasia, Monocytosis, Recurrent urinary tract infections, Hypo...	OMIM:612541
Hardikar Syndrome	Intrahepatic bile duct dilatation, Cholestasis, Prolonged neonatal jaundice, Splenomegaly, Hypers...	OMIM:301068
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Hyperbilirubinemia, Mild proteinuria, Intrahepatic cholestasis, Increased serum bile acid concent...	OMIM:619685
Thrombocytopenia-Absent Radius Syndrome	Fibular aplasia, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the ulna, Finger syndactyl...	ORPHA:3320
Mckusick-Kaufman Syndrome	Renal hypoplasia/aplasia, Glandular hypospadias, Urogenital sinus anomaly, Short stature, Failure...	ORPHA:2473
Aredyld Syndrome	Hepatomegaly, Cachexia, Abnormality of the ureter, Short stature, Splenomegaly, Intrauterine grow...	ORPHA:1133
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Obesity, Jaundice, Moderate albuminuria	OMIM:614231
Baller-Gerold Syndrome	Vesicoureteral reflux, Abnormality of the ureter, Short stature, Growth delay, Hydronephrosis, Ab...	ORPHA:1225
Bone Marrow Failure Syndrome 3	Aplastic anemia, Hyperechogenic pancreas, Anemia, Acute myeloid leukemia, Pancytopenia, Increased...	OMIM:617052
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Hematuria, Failure to thrive, Proteinuria, Weight loss, Chronic kidney disease, Stage 5 chronic k...	ORPHA:1018
Orofaciodigital Syndrome Type 2	Finger clinodactyly, Cone-shaped epiphyses of the phalanges of the hand, Finger syndactyly, Adact...	ORPHA:2751
Hyperparathyroidism, Neonatal Severe	Polyuria, Calcinosis, Hepatomegaly, Anemia, Hypercalciuria, Hyperphosphaturia, Failure to thrive,...	OMIM:239200
Chromosome 2P16.1-P15 Deletion Syndrome	Postnatal growth retardation, Short stature, Hydronephrosis, Intrauterine growth retardation, Mic...	OMIM:612513
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Short stature, Hydronephrosis, Growth delay	ORPHA:457193
Fanconi Anemia, Complementation Group R	Bone marrow hypocellularity, Anemia	OMIM:617244
Trisomy 1Q	Hydronephrosis, Multicystic kidney dysplasia, Congenital megaureter	ORPHA:261344
Pyropoikilocytosis, Hereditary	Pyropoikilocytosis, Elliptocytosis, Hemolytic anemia, Microspherocytosis	OMIM:266140
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Hematuria, Proteinuria, Micronodular cirrhosis	OMIM:192315
Chondrodysplasia Punctata 2, X-Linked Dominant	Postnatal growth retardation, Rhizomelia, Failure to thrive, Hydronephrosis, Elevated 8(9)-choles...	OMIM:302960
Diamond-Blackfan Anemia 10	Reticulocytopenia, Steroid-responsive anemia, Anemia, Macrocytic anemia	OMIM:613309
Lead Poisoning	Abnormal T cell morphology, Decreased HDL cholesterol concentration, Anemia, Increased LDL choles...	ORPHA:330015
Fish-Eye Disease	Lymphadenopathy, Decreased HDL cholesterol concentration, Hepatomegaly, Splenomegaly	ORPHA:79292
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Megacystis, Hydronephrosis, Hydroureter, Portal hypertension	OMIM:619431
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Pan...	OMIM:615688
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Cirrhosis, Anemia, Increased mean corpuscular volume, Bone marrow hypocellularit...	OMIM:127550
Spherocytosis, Type 3	Spherocytosis, Hemolytic anemia	OMIM:270970
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Thrombocytopenia, Anemia, Bone marrow hypocellularity	ORPHA:3322
Methylmalonic Aciduria, Cbla Type	Hepatomegaly, Anemia, Methylmalonic acidemia, Pancytopenia, Hyperammonemia, Thrombocytopenia, Hyp...	OMIM:251100
Meckel Syndrome, Type 4	Intrauterine growth retardation, Renal cyst, Bile duct proliferation	OMIM:611134
Maturity-Onset Diabetes Of The Young, Type 14	Elevated hemoglobin A1c	OMIM:616511
Feingold Syndrome Type 1	Abnormality of the kidney, Vesicoureteral reflux, Short stature, Nephritis, Hydronephrosis, Renal...	ORPHA:391641
Chromosome 17Q12 Deletion Syndrome	Unilateral renal agenesis, Recurrent urinary tract infections, Renal cyst, Short stature, Renal h...	OMIM:614527
Oculoskeletodental Syndrome	Hepatomegaly, Hypercalciuria, Hypocalcemia, Mucopolysacchariduria, Renal agenesis, Short stature,...	OMIM:618440
Omodysplasia 1	Fibular hypoplasia, Limited knee flexion/extension, Rhizomelia, Increased fibular diameter, Limit...	OMIM:258315
Hyperuricemia, Hprt-Related	Hyperuricemia, Hyperuricosuria, Nephrolithiasis, Renal insufficiency	OMIM:300323
Neurodegeneration And Seizures Due To Copper Transport Defect	Short femur, Short tibia, Talipes equinovarus	OMIM:620306
Cockayne Syndrome Type 1	Postnatal growth retardation, Hepatomegaly, Anemia, Increased blood urea nitrogen, Failure to thr...	ORPHA:90321
Czeizel-Losonci Syndrome	Ureteral agenesis, Abnormality of the urinary system, Hydronephrosis, Congenital megaureter	ORPHA:2437
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Increased erythrocyte protoporphyrin concentration, Anemia, Hypochromic microcytic anemia, Howell...	OMIM:301310
Hellp Syndrome	Acute kidney injury, Decreased mean corpuscular hemoglobin concentration, Increased body weight, ...	ORPHA:244242
Koolen-De Vries Syndrome	Ureteral duplication, Hypospadias, Vesicoureteral reflux, Short stature, Renal duplication, Hydro...	ORPHA:96169
Martin-Probst Syndrome	Pancytopenia, Renal insufficiency, Short stature, Chordee, Proteinuria, Micropenis	OMIM:300519
Autoimmune Hepatitis	Cirrhosis, Jaundice, Increased circulating antibody level, Sclerosing cholangitis, Increased circ...	ORPHA:2137
3C Syndrome	Postnatal growth retardation, Hypospadias, Hypoplasia of penis, Short stature, Hydronephrosis	ORPHA:7
Familial Mediterranean Fever	Pancreatitis, Lymphadenopathy, Ascites, Leukocytosis, Nephrotic syndrome, Nephrocalcinosis, Prote...	ORPHA:342
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Lymphocytosis, Decreased ...	OMIM:617718
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Myoglobinuria	OMIM:602199
Bile Acid Synthesis Defect, Congenital, 1	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Giant cell hepatitis, Elevated circu...	OMIM:607765
Marden-Walker Syndrome	Epispadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Abnorm...	ORPHA:2461
Nail-Patella Syndrome	Hematuria, Nephrotic syndrome, Short stature, Proteinuria, Renal insufficiency, Glomerulonephritis	OMIM:161200
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Hydronephrosis, Hydroureter, Fetal megacystis	OMIM:619362
Solitary Rectal Ulcer Syndrome	Anemia	ORPHA:209964
X-Linked Dominant Chondrodysplasia Punctata	Short stature, Hydronephrosis, Severe postnatal growth retardation	ORPHA:35173
Acute Promyelocytic Leukemia	Anemia, Lymphadenopathy, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Neutropenia	ORPHA:520
Bile Acid Synthesis Defect, Congenital, 2	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated circulating hepatic transaminase conce...	OMIM:235555
Amoebiasis Due To Entamoeba Histolytica	Lung abscess, Liver abscess, Anemia, Elevated circulating hepatic transaminase concentration, Leu...	ORPHA:67
Myopathy With Lactic Acidosis, Hereditary	Elevated circulating creatine kinase concentration, Sideroblastic anemia, Leukopenia, Anemia	OMIM:255125
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Polycystic kidney dysplasia, Renal angiomyolipoma	OMIM:600273
Acquired Generalized Lipodystrophy	Hypertriglyceridemia, Abnormal circulating lipid concentration, Cirrhosis, Hepatomegaly, Acute pa...	ORPHA:79086
Microphthalmia, Lenz Type	Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Short stature, Hydronephrosis	ORPHA:568
Fanconi Anemia, Complementation Group E	Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Leukemia, Neutropenia	OMIM:600901
Kaposiform Lymphangiomatosis	Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma...	ORPHA:464329
Mosaic Trisomy 9	Abnormal liver lobulation, Hypoplasia of penis, Intrauterine growth retardation, Asplenia, Hydron...	ORPHA:99776
Harrod Syndrome	Intrauterine growth retardation, Failure to thrive, Multicystic kidney dysplasia, Hypospadias	ORPHA:2115
Parathyroid Carcinoma	Pancreatitis, Hypercalciuria, Renal hamartoma, Nephrolithiasis, Renal cyst, Nephrocalcinosis, Hyp...	ORPHA:143
Braddock-Carey Syndrome 1	Growth delay, Thrombocytopenia, Multicystic kidney dysplasia	OMIM:619980
Matthew-Wood Syndrome	Annular pancreas, Aplasia/Hypoplasia of the pancreas, Vesicoureteral reflux, Abnormal spleen morp...	ORPHA:2470
Hyperoxaluria, Primary, Type Ii	Hematuria, Calcium oxalate nephrolithiasis, Hyperoxaluria, Nephrocalcinosis, Renal insufficiency	OMIM:260000
Combined Oxidative Phosphorylation Deficiency 14	Anemia, Increased hepatic glycogen content, Elevated hepatic iron concentration, Copper accumulat...	OMIM:614946
Adult Acute Respiratory Distress Syndrome	Abnormality of tumor necrosis factor secretion, Pancreatitis, Abnormal circulating interleukin co...	ORPHA:70578
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Jaundice, Hepatomegaly, Increased total iron binding capacity, Elevated circulating hepatic trans...	ORPHA:309854
Severe Generalized Junctional Epidermolysis Bullosa	Renal tubular epithelial necrosis, Hydroureter, Anemia, Duplicated collecting system, Abnormality...	ORPHA:79404
Attrv122I Amyloidosis	Cardiomegaly, Anemia, Increased circulating NT-proBNP concentration, Left ventricular hypertrophy	ORPHA:85451
Tangier Disease	Hypertriglyceridemia, Anemia, Chronic noninfectious lymphadenopathy, Orange discolored tonsils, T...	ORPHA:31150
Carpenter Syndrome 1	Hydroureter, Short stature, Obesity, Hydronephrosis, Polysplenia	OMIM:201000
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Hepatomegaly, Anemia, Methylmalonic acidemia, Pancytopenia, Hyperhomocystinemia, Megaloblastic an...	OMIM:277380
Diaphanospondylodysostosis	Enlarged kidney, Abnormal liver lobulation, Nephroblastomatosis, Nephrogenic rest, Disproportiona...	OMIM:608022
Malakoplakia	Hematuria, Dysuria, Urinary hesitancy, Urinary urgency, Proteinuria, Follicular hyperplasia, Urin...	ORPHA:556
Q Fever	Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating antibody level, Elevated circulating...	ORPHA:781
Spondyloenchondrodysplasia	Autoimmune hemolytic anemia, Hematuria, Pancytopenia, Short stature, Proteinuria, Chronic kidney ...	ORPHA:1855
Tarp Syndrome	Extramedullary hematopoiesis	ORPHA:2886
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole...	OMIM:617394
Carey-Fineman-Ziter Syndrome	Glandular hypospadias, Hydronephrosis, Short stature, Growth delay	ORPHA:1358
Bazex Syndrome	Anemia	ORPHA:166113
Fanconi Anemia, Complementation Group C	Anemia, Pancytopenia, Reticulocytopenia, Bone marrow hypocellularity, Thrombocytopenia, Leukemia,...	OMIM:227645
Pheochromocytoma	Elevated urinary norepinephrine level, Hypercalcemia, Renal artery stenosis, Proteinuria	OMIM:171300
Orofaciodigital Syndrome X	Preaxial hand polydactyly, Fibular aplasia, Coalescence of tarsal bones, Finger aplasia	OMIM:165590
Genitopatellar Syndrome	Short stature, Hydronephrosis, Multicystic kidney dysplasia	ORPHA:85201
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Hyperbilirubinemia, ...	OMIM:613812
Polycythemia Vera	Acute leukemia, Hepatomegaly, Leukocytosis, Portal hypertension, Portal vein thrombosis, Polycyth...	ORPHA:729
Syndromic Diarrhea	Cirrhosis, Abnormality of iron homeostasis, Hepatomegaly, Panhypogammaglobulinemia, Small for ges...	ORPHA:84064
Abcd Syndrome	Polycythemia	OMIM:600501
Pfeiffer Syndrome Type 3	Hydronephrosis, Horseshoe kidney, Vesicoureteral reflux	ORPHA:93260
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Intrauterine growth retardation, Fetal megacystis, Multicystic kidney dysplasia	ORPHA:73246
Trichohepatoenteric Syndrome 1	Cholestasis, Renal cortical microcysts, Splenomegaly, Intrauterine growth retardation, Jaundice, ...	OMIM:222470
Cat Eye Syndrome	Biliary atresia, Vesicoureteral reflux, Renal agenesis, Short stature, Hydronephrosis, Horseshoe ...	OMIM:115470
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Intrauterine growth retardation, Horseshoe kidney, Renal cyst, Short stature	ORPHA:166035
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Decreased glomerular filtration rate, Focal segmental glomerulosclerosis, Nephrotic syndrome, Ren...	OMIM:614748
Meckel Syndrome, Type 6	Aplasia of the bladder, Renal cyst, Bile duct proliferation, Cystic liver disease, Absent gallbla...	OMIM:612284
Tarp Syndrome	Intrauterine growth retardation, Failure to thrive, Hydronephrosis, Horseshoe kidney	OMIM:311900
Paroxysmal Nocturnal Hemoglobinuria 2	Paroxysmal nocturnal hemoglobinuria, Hemolytic anemia	OMIM:615399
Degcags Syndrome	Cholestasis, Abnormal spleen morphology, Leukopenia, Intrauterine growth retardation, Congenital ...	OMIM:619488
Neuroleptic Malignant Syndrome	Hyperkalemia, Acute kidney injury, Urinary incontinence, Hyperuricemia, Hypocalcemia, Myoglobinur...	ORPHA:94093
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Hydroureter, Small for gestational age, Pelvic kidney, Vesicoureteral reflux, Short stature, Hydr...	OMIM:300707
Infection-Related Hemolytic Uremic Syndrome	Hyperkalemia, Acute kidney injury, Increased circulating interleukin 6 concentration, Pancreatiti...	ORPHA:544482
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Anemia, Renal tubular acidosis, Hypocalcemia, Pancytopenia, Nephrolithiasis, Elevat...	ORPHA:2785
Congenital Myopathy 17	Renal hypoplasia, Hydronephrosis, Failure to thrive in infancy, Ureteropelvic junction obstruction	OMIM:618975
Fanconi Anemia, Complementation Group A	Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Leukemia, Neutropenia	OMIM:227650
Postinfectious Vasculitis	Hematuria, Increased circulating antibody level, Elevated circulating C-reactive protein concentr...	ORPHA:48435
Microphthalmia With Limb Anomalies	Metatarsal synostosis, Fibular hypoplasia, 2-3 toe cutaneous syndactyly, Pes valgus, Sandal gap, ...	OMIM:206920
Pelvis-Shoulder Dysplasia	Short stature, Neonatal short-trunk short stature, Mesomelic/rhizomelic limb shortening, Hydronep...	ORPHA:2839
Nabais Sa-De Vries Syndrome, Type 2	Failure to thrive in infancy, Multicystic kidney dysplasia	OMIM:618829
Peutz-Jeghers Syndrome	Abnormality of the gallbladder, Anemia, Renal cell carcinoma, Enlarged polycystic ovaries, Abnorm...	ORPHA:2869
Isolated Sedoheptulokinase Deficiency	Cholestatic liver disease, Hypochromic microcytic anemia, Anemia, Cholestasis, Portal hypertensio...	ORPHA:440713
Primary Hyperoxaluria Type 2	Recurrent urinary tract infections, Hyperoxaluria, Nephrolithiasis, Ureteral obstruction, Nephroc...	ORPHA:93599
Campomelia, Cumming Type	Hepatomegaly, Multicystic kidney dysplasia, Multiple renal cysts, Pancreatic cysts, Abnormality o...	ORPHA:1318
Poems Syndrome	Hepatomegaly, Lymphadenopathy, Increased circulating antibody level, Visceromegaly, Ascites, Poly...	ORPHA:2905
Autosomal Recessive Spastic Paraplegia Type 20	Short stature, Dysuria, Hydronephrosis, Growth delay	ORPHA:101000
Neuromuscular Oculoauditory Syndrome	Reduced renal corticomedullary differentiation, Multiple renal cysts, Elevated circulating creati...	OMIM:618733
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Large for gestational age, Ureteral duplication, Vesicoureteral reflux, Ureteral hypoplasia, Hydr...	OMIM:614080
Acrofacial Dysostosis, Rodríguez Type	Fibular hypoplasia, Finger syndactyly, Abnormal pelvic girdle bone morphology, Finger aplasia, Ap...	ORPHA:1788
Dyskeratosis Congenita, Digenic	Decreased circulating total IgM, Decreased circulating IgA level, Anemia, Decreased circulating I...	OMIM:620040
Macrocephaly/Autism Syndrome	Large for gestational age, Hepatomegaly, Decreased circulating antibody level, Obesity, Splenomeg...	OMIM:605309
Peroxisome Biogenesis Disorder 5A (Zellweger)	Increased circulating very long-chain fatty acid concentration, Jaundice, Hepatomegaly, Hypospadi...	OMIM:614866
Multicystic Dysplastic Kidney	Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r...	ORPHA:1851
Alkaptonuria	Elevated urinary homogentisic acid, Decreased glomerular filtration rate, Dark urine, Nephrolithi...	OMIM:203500
Erdheim-Chester Disease	Anemia, Renal insufficiency, Dysuria, Hydronephrosis, Weight loss, Retroperitoneal fibrosis	ORPHA:35687
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Acute kidney injury, Renal tubular epithelial necrosis, Hematuria, Neutropenia, Anemia, Dysuria, ...	ORPHA:95455
Duane-Radial Ray Syndrome	Vesicoureteral reflux, Renal agenesis, Renal hypoplasia, Hydronephrosis, Crossed fused renal ecto...	OMIM:607323
1Q21.1 Microdeletion Syndrome	Vesicoureteral reflux, Short stature, Failure to thrive, Hydronephrosis, Intrauterine growth reta...	ORPHA:250989
Lysinuric Protein Intolerance	Hepatomegaly, Oroticaciduria, Pancreatitis, Hemophagocytosis, Anemia, Short stature, Hyperammonem...	OMIM:222700
Cornelia De Lange Syndrome 1	Ectopic kidney, Hypospadias, Abnormal renal morphology, Vesicoureteral reflux, Duplication of int...	OMIM:122470
Goodpasture Syndrome	Anemia, Glomerular crescent formation, Cylindruria, Increased blood urea nitrogen, Proteinuria, M...	OMIM:233450
Trisomy 20P	Abnormality of the kidney, Hypospadias, Abnormality of the ureter, Hydronephrosis, Multiple renal...	ORPHA:261318
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Paroxysmal nocturnal hemoglobinuria, Hemolytic anemia	OMIM:612300
Granulomatosis With Polyangiitis	Glomerulopathy, Hematuria, Pancreatitis, Elevated circulating C-reactive protein concentration, U...	ORPHA:900
Hyperparathyroidism-Jaw Tumor Syndrome	Pancreatitis, Hypercalciuria, Renal hamartoma, Nephrolithiasis, Renal cyst, Nephrocalcinosis, Hyp...	ORPHA:99880
Joubert Syndrome With Hepatic Defect	Cirrhosis, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, Intrahepatic biliary ...	ORPHA:1454
Developmental And Epileptic Encephalopathy 50	Anisopoikilocytosis, Anemia, Hyperammonemia, Acanthocytosis, Schistocytosis	OMIM:616457
Ovalocytosis, Southeast Asian	Elliptocytosis, Hemolytic anemia	OMIM:166900
Fabry Disease	Abnormal renal tubule morphology, Abnormal circulating lipid concentration, Glomerulopathy, Delay...	ORPHA:324
Gaucher Disease, Type Ii	Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly	OMIM:230900
Drug Reaction With Eosinophilia And Systemic Symptoms	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Lymphocytosis, Acute he...	ORPHA:139402
Gillessen-Kaesbach-Nishimura Syndrome	Polycystic kidney dysplasia, Periportal fibrosis	OMIM:263210
Genitopalatocardiac Syndrome	Abnormality of the gallbladder, Hypospadias, Abnormal mesentery morphology, Intrauterine growth r...	ORPHA:2075
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Renal agenesis, Increased urine alpha-ketoglutarate concentration, Cystic renal dysplasia	OMIM:220500
Cystinuria	Hyperuricemia, Hematuria, Nephrolithiasis, Renal insufficiency	ORPHA:214
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Hypoplastic pubic bone, S...	OMIM:617925
2P15P16.1 Microdeletion Syndrome	Growth delay, Failure to thrive, Hydronephrosis, Intrauterine growth retardation, Multicystic kid...	ORPHA:261349
Koolen-De Vries Syndrome	Recurrent urinary tract infections, Vesicoureteral reflux, Short stature, Failure to thrive, Hydr...	OMIM:610443
Shwachman-Diamond Syndrome	Aplastic anemia, Elevated circulating hepatic transaminase concentration, Macrocytic anemia, Chro...	ORPHA:811
Stromme Syndrome	Hydronephrosis, Bilateral renal hypoplasia, Accessory spleen	OMIM:243605
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Small proximal tibial epiphyses, Broad distal phalanx of finger, Hypoplastic iliac wing, Short ri...	ORPHA:96334
Wagro Syndrome	Nephroblastoma, Obesity, Proteinuria	OMIM:612469
Familial Adenomatous Polyposis 4	Ovarian cyst, Renal cyst	OMIM:617100
Intellectual Developmental Disorder, Autosomal Dominant 53	Growth delay, Hydronephrosis, Micropenis	OMIM:617798
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Disproportionate shortening of the tibia, Postaxial polysyndactyly of foot, Short long bone, Shor...	OMIM:263520
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Postnatal growth retardation, HbH hemoglobin, Hypochromic microcytic anemia, Hypospadias, Reduced...	OMIM:301040
Chédiak-Higashi Syndrome	Hypertriglyceridemia, Decreased liver function, Elevated circulating hepatic transaminase concent...	ORPHA:167
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Short stature, Hydronephrosis, Severe intrauterine growth retardation, Vesicoureteral reflux	OMIM:620663
Mosaic Trisomy 8	Short stature, Hydronephrosis, Vesicoureteral reflux	ORPHA:96061
Hoxha-Aliu Syndrome	Hydronephrosis, Vesicoureteral reflux	OMIM:620662
Caroli Syndrome	Abnormality of the kidney, Cirrhosis, Jaundice, Intrahepatic cholestasis, Cholangitis, Pancreatit...	ORPHA:480520
Mosaic Variegated Aneuploidy Syndrome 1	Postnatal growth retardation, Hypospadias, Multicystic kidney dysplasia, Small for gestational ag...	OMIM:257300
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Increased circulating chylomicron concentration...	OMIM:207750
Encephalocraniocutaneous Lipomatosis	Pelvic kidney, Hydronephrosis	OMIM:613001
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy...	OMIM:619418
Agel Amyloidosis	Stage 5 chronic kidney disease, Abnormal spleen morphology, Proteinuria	ORPHA:85448
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Congenital megaureter, Hypercalciuria, Renal cyst, Obesity, Nephrocalcinosi...	ORPHA:369837
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Intrauterine growth retardation, Hydronephrosis, Postnatal growth retardation	ORPHA:254528
Eiken Syndrome	Fibular hypoplasia, Delayed epiphyseal ossification, Delayed ossification of carpal bones, Flat a...	OMIM:600002
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Dysgammaglobulinemia, Recurrent urinary tract infections, B lymphocy...	OMIM:251260
Basel-Vanagaite-Smirin-Yosef Syndrome	Hydronephrosis, Hypospadias	OMIM:616449
Musculocontractural Ehlers-Danlos Syndrome	Nephrolithiasis, Functional abnormality of the bladder, Hydronephrosis, Abnormal mesentery morpho...	ORPHA:2953
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Renal dysplasia, Unilateral renal atrophy, Nephritis, Pyelonephritis	OMIM:314300
Diamond-Blackfan Anemia	Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt...	ORPHA:124
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Unilateral renal agenesis, Hypospadias, Pelvic kidney, Renal cyst, Failure to thrive, Hydronephro...	ORPHA:464311
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormality of the kidney, Anemia, Hypoplasia of penis, Recurrent urinary tract infections, Short...	ORPHA:847
Visceral Myopathy 1	Pancreatitis, Vesicoureteral reflux, Hydronephrosis, Megacystis, Urinary retention	OMIM:155310
Bardet-Biedl Syndrome 20	Pancreatitis, Obesity, Proteinuria, Micropenis, Hypercholesterolemia	OMIM:619471
Vulvovaginal Gingival Syndrome	Abnormality of tumor necrosis factor secretion	ORPHA:83453
Alagille Syndrome 1	Hypertriglyceridemia, Cirrhosis, Duplicated collecting system, Renal tubular acidosis, Vesicouret...	OMIM:118450
Donnai-Barrow Syndrome	Non-acidotic proximal tubulopathy, Proteinuria	OMIM:222448
Developmental Delay With Or Without Dysmorphic Facies And Autism	Vesicoureteral reflux, Renal cyst, Microphallus, Short stature, Renal hypoplasia, Hydronephrosis	OMIM:618454
Mirage Syndrome	Hyperkalemia, Anemia, Hyponatremia, Hypoplastic spleen, Thrombocytopenia, Leukopenia, Lymphopenia	OMIM:617053
Gitelman Syndrome	Delayed puberty, Hypermagnesemia, Urinary incontinence, Neoplasm of the pancreas, Iron deficiency...	ORPHA:358
Craniosynostosis With Fibular Aplasia	Fibular aplasia	OMIM:218550
Melas	Anemia, Proximal tubulopathy, Focal segmental glomerulosclerosis, Short stature, Failure to thriv...	ORPHA:550
Cockayne Syndrome Type 3	Hepatomegaly, Hydroureter, Unilateral renal agenesis, Neurogenic bladder, Renal hypoplasia, Hydro...	ORPHA:90324
Takenouchi-Kosaki Syndrome	Unilateral renal agenesis, Hypospadias, Increased mean platelet volume, Hydronephrosis, Thrombocy...	OMIM:616737
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Annular pancreas, Hydronephrosis, Asplenia	ORPHA:210122
Branchiootorenal Syndrome 1	Renal steatosis, Abnormal renal collecting system morphology, Unilateral renal agenesis, Polycyst...	OMIM:113650
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Growth delay, Vesicoureteral reflux, Hypospadias, Renal atrophy	OMIM:618659
Pallister-Hall Syndrome	Hydroureter, Ectopic kidney, Renal cyst, Distal urethral duplication, Short stature, Renal hypopl...	OMIM:146510
Baraitser-Winter Cerebrofrontofacial Syndrome	Hydroureter, Abnormality of the upper urinary tract, Growth delay, Failure to thrive, Hydronephrosis	ORPHA:2995
D-Bifunctional Protein Deficiency	Increased circulating very long-chain fatty acid concentration, Hepatomegaly, Cholestasis, Renal ...	OMIM:261515
Pseudo-Torch Syndrome 1	Jaundice, Hepatomegaly, Failure to thrive, Thrombocytopenia, Splenomegaly, Renal insufficiency	OMIM:251290
Peripheral Primitive Neuroectodermal Tumor	Pelvic mass, Jaundice, Pancreatitis, Neoplasm of the pancreas, Anemia, Ascites, Elevated circulat...	ORPHA:370348
Fryns Syndrome	Hydronephrosis, Multicystic kidney dysplasia, Hypospadias, Vesicoureteral reflux	ORPHA:2059
Penile Agenesis	Hydroureter, Abnormality of the bladder, Bilateral renal agenesis, Absent penis, Hydronephrosis, ...	ORPHA:49
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Ureteral triplication, Hydronephrosis	OMIM:104350
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Exercise-induced myoglobinuria, Elevated circulating creatine kinase concentration	OMIM:607155
Nail-Patella Syndrome	Abnormality of the kidney, Hematuria, Nephrotic syndrome, Thickened glomerular basement membrane,...	ORPHA:2614
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Iron deficiency anemia, Lymphadenopathy, Reduced proportion of CD4-n...	ORPHA:37042
Teebi-Shaltout Syndrome	Short stature, Hydronephrosis, Horseshoe kidney, Ureteral stenosis	OMIM:272950
Scrub Typhus	Lymphadenopathy, Renal insufficiency, Splenomegaly	ORPHA:83317
Mayer-Rokitansky-Kuster-Hauser Syndrome	Renal cyst, Reduced renal corticomedullary differentiation, Polycystic ovaries, Multicystic kidne...	OMIM:277000
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair...	OMIM:233710
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Short stature, Horseshoe kidney, Renal cyst	OMIM:250410
15Q Overgrowth Syndrome	Abnormal renal morphology, Intrauterine growth retardation, Hydronephrosis, Nephroblastoma, Urete...	ORPHA:314585
Sweet Syndrome	Anemia, Acute myeloid leukemia, Increased circulating interleukin 6 concentration, Chronic lympha...	ORPHA:3243
Acrocephalopolydactylous Dysplasia	Enlarged kidney, Hepatomegaly, Ascites, Polysplenia, Hepatic fibrosis, Pancreatic fibrosis, Cysti...	OMIM:200995
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Hyperglycinemia, Anemia, Hyperglutamatemia, Hyperalaninemia, Hyperammonemia, Low plasma citrullin...	OMIM:620358
Mucopolysaccharidosis, Type Iiib	Cardiomegaly, Hepatomegaly, Splenomegaly, Heparan sulfate excretion in urine	OMIM:252920
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Anemia, Elevated circulating hepatic transaminase concentration, Accessory spleen, Portal hyperte...	OMIM:620005
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Increased circulating interleukin 8 concentration, Failure to thrive in infancy, Reduced circulat...	OMIM:301220
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:567983
Oculocerebrorenal Syndrome Of Lowe	Delayed puberty, Nephrocalcinosis, Multiple renal cysts, Hypophosphatemia, Nephrolithiasis, Short...	ORPHA:534
Thakker-Donnai Syndrome	Intrauterine growth retardation, Hydronephrosis	ORPHA:1780
Cardiogenic Shock	Oliguria, Elevated circulating creatinine concentration, Hepatomegaly	ORPHA:97292
Joubert Syndrome 14	Growth delay, Renal cyst	OMIM:614424
15q26 overgrowth syndrome	Abnormality of the kidney, Polycystic kidney dysplasia, Vesicoureteral reflux, Renal agenesis, Hy...	DECIPHER:81
Malignant Hyperthermia Of Anesthesia	Hyperkalemia, Acute kidney injury, Myoglobinuria, Elevated creatine kinase after exercise, Hyperp...	ORPHA:423
8P Inverted Duplication/Deletion Syndrome	Abnormality of the urinary system, Hydronephrosis, Micropenis, Aplasia/Hypoplasia of the gallbladder	ORPHA:96092
Craniofacioskeletal Syndrome	Hypospadias, Hypocalcemia, Short stature, Hydronephrosis, Absent gallbladder, Intrauterine growth...	OMIM:300712
Gaucher Disease	Delayed puberty, Decreased HDL cholesterol concentration, Cirrhosis, Hematuria, Increased circula...	ORPHA:355
Dyrk1A-Related Intellectual Disability Syndrome	Unilateral renal agenesis, Hypospadias, Pelvic kidney, Renal cyst, Short stature, Failure to thri...	ORPHA:464306
Hyperphosphatasia-Intellectual Disability Syndrome	Growth delay, Hydronephrosis	ORPHA:247262
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Renal cyst	ORPHA:480536
Sandifer Syndrome	Anemia	ORPHA:71272
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair...	OMIM:233690
Pierson Syndrome	Hypoproteinemia, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Hyperechogenic kid...	OMIM:609049
Cerebral Creatine Deficiency Syndrome 2	Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration	OMIM:612736
Dyskeratosis Congenita, Autosomal Dominant 3	Aplastic anemia, Anemia, Macrocytic anemia, Pancytopenia, Bone marrow hypocellularity, Leukopenia...	OMIM:613990
Systemic Lupus Erythematosus	Hematuria, Lymphadenopathy, Pyuria, Leukopenia, Proteinuria, Thrombocytopenia, Weight loss, Hemol...	ORPHA:536
Liver Disease, Severe Congenital	Lymphocytosis, Hypoproteinemia, Ascites, Biliary hyperplasia, Hyperammonemia, Leukopenia, Splenom...	OMIM:619991
Distal Deletion 12Q	Annular pancreas, Ectopic kidney, Biliary atresia, Polycystic kidney dysplasia, Vesicoureteral re...	ORPHA:96149
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Renal dysplasia, Hydronephrosis, Short stature	OMIM:300968
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Anemia, Hypospadias, Hypocalcemia, Hyperbilirubinemia, Short stature, Hydronephrosis, Thrombocyto...	ORPHA:163979
Cerebellar-Facial-Dental Syndrome	Failure to thrive, Ureteropelvic junction obstruction, Hydronephrosis, Severe short stature, Infa...	ORPHA:444072
Isolated Biliary Atresia	Cirrhosis, Jaundice, Hepatomegaly, Severe failure to thrive, Periportal fibrosis, Cholestasis, Bi...	ORPHA:30391
Atelosteogenesis, Type I	Tibial bowing, Clubbing, Short metacarpal, Short humerus, Fibular aplasia, Short finger, Rhizomel...	OMIM:108720
Ileal Neuroendocrine Tumor	Lymphadenopathy, Iron deficiency anemia, Hydronephrosis, Weight loss, Extrahepatic cholestasis	ORPHA:100078
Immunodeficiency 82 With Systemic Inflammation	Decreased circulating total IgG, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein...	OMIM:619381
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Pelvic kidney, Vesicoureteral reflux, Obesity, Hydronephrosis, Micropenis	OMIM:618653
Kabuki Syndrome	Renal hypoplasia/aplasia, Hypospadias, Duplicated collecting system, Hypoplasia of penis, Short s...	ORPHA:2322
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Renal cyst	OMIM:615560
Microcephaly 29, Primary, Autosomal Recessive	Reduced renal corticomedullary differentiation, Hyperechogenic kidneys	OMIM:620047
Campomelic Dysplasia	Short stature, Hydronephrosis	ORPHA:140
Cockayne Syndrome	Postnatal growth retardation, Delayed puberty, Urinary incontinence, Hepatomegaly, Unilateral ren...	ORPHA:191
Fanconi Anemia, Complementation Group D2	Annular pancreas, Anemia, Pancytopenia, Reticulocytopenia, Bone marrow hypocellularity, Thrombocy...	OMIM:227646
Biliary, Renal, Neurologic, And Skeletal Syndrome	Intrahepatic bile duct dilatation, Cholestasis, Ascites, Biliary cirrhosis, Prolonged neonatal ja...	OMIM:619534
Idiopathic Congenital Hypothyroidism	Prolonged neonatal jaundice, Hypothermia, Neonatal hyperbilirubinemia	ORPHA:95717
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Myoglobinuria, Elevated circulating creatine kinase concentration, Hyperammonemia, Elevated circu...	OMIM:616878
Hurler-Scheie Syndrome	Hepatomegaly, Dermatan sulfate excretion in urine, Short stature, Growth delay, Splenomegaly, Hep...	OMIM:607015
Mucopolysaccharidosis, Type Ii	Hepatomegaly, Dermatan sulfate excretion in urine, Short stature, Hepatosplenomegaly, Splenomegal...	OMIM:309900
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Abnormal bladder morphology, Vesicoureteral reflux, Failure to thrive, Hydronephrosis, Intrauteri...	ORPHA:453499
Caffey Disease	Tibial bowing, Bowing of the legs, Periosteal thickening of long tubular bones	OMIM:114000
Gabriele-De Vries Syndrome	Intrauterine growth retardation, Ureteropelvic junction obstruction, Hydronephrosis	OMIM:617557
Cardiofaciocutaneous Syndrome 1	Short stature, Failure to thrive, Hydronephrosis, Splenomegaly	OMIM:115150
Atelosteogenesis Type I	Neonatal short-trunk short stature, Rhizomelia, Abnormal pancreatic duct morphology, Multiple ren...	ORPHA:1190
Joubert Syndrome 39	Polycystic kidney dysplasia, Overweight	OMIM:619562
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Unilateral renal agenesis, Short stature, Hydronephrosis, Mild intrauterine growth retardation, E...	OMIM:308050
Immunoglobulin A Vasculitis	Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:761
Radio-Renal Syndrome	Renal hypoplasia/aplasia, Renal agenesis, Severe short stature, Renal dysplasia, Multicystic kidn...	ORPHA:3015
Cutis Laxa, Autosomal Recessive, Type Ic	Multiple bladder diverticula, Accessory spleen, Ascites, Hypoplasia of the thymus, Growth delay, ...	OMIM:613177
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hydroureter, Hypospadias, Hepatomegaly, Hypoplasia of penis, Increased circ...	ORPHA:373
Cockayne Syndrome B	Postnatal growth retardation, Hepatomegaly, Severe failure to thrive, Renal insufficiency, Failur...	OMIM:133540
Aicardi-Goutieres Syndrome 7	Increased circulating ferritin concentration, Hepatomegaly, Anemia, Increased circulating antibod...	OMIM:615846
Brucellosis	Lung abscess, Liver abscess, Anemia, Hepatomegaly, Lymphadenopathy, Elevated circulating C-reacti...	ORPHA:1304
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Nephroblastoma, Renal hypoplasia, Splenomegaly	OMIM:612918
Malt Lymphoma	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:52417
Lowe Oculocerebrorenal Syndrome	Low-molecular-weight proteinuria, Bicarbonaturia, Postnatal growth retardation, Hypercholesterole...	OMIM:309000
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia, Splenomegaly, Abnormal urinary...	ORPHA:90033
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Myoglobinuria, Elevated circulating creatine kinase concentration	ORPHA:206549
Proximal 16P11.2 Microdeletion Syndrome	Failure to thrive, Obesity, Multicystic kidney dysplasia	ORPHA:261197
Tuberous Sclerosis 2	Renal cell carcinoma, Renal cyst, Renal angiomyolipoma, Pulmonary lymphangiomyomatosis, Absence o...	OMIM:613254
Vater/Vacterl Association	Postnatal growth retardation, Ectopic kidney, Hypospadias, Vesicoureteral reflux, Renal agenesis,...	OMIM:192350
Rift Valley Fever	Jaundice, Anemia, Elevated circulating hepatic transaminase concentration, Increased circulating ...	ORPHA:319251
Orofaciodigital Syndrome Type 1	Renal insufficiency, Pancreatic cysts, Hydronephrosis, Exocrine pancreatic insufficiency, Protein...	ORPHA:2750
Lysosomal Acid Lipase Deficiency	Hypertriglyceridemia, Hyperkalemia, Decreased liver function, Jaundice, Anemia, Elevated circulat...	ORPHA:275761
Smith-Lemli-Opitz Syndrome	Cholestatic liver disease, Splenomegaly, Intrauterine growth retardation, Hypocholesterolemia, He...	OMIM:270400
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Renal dysplasia, Renal cyst, Short stature	OMIM:617260
Hyper-Igd Syndrome	Lymphadenopathy, Increased circulating IgA level, Leukocytosis, Lymphadenitis, Increased circulat...	OMIM:260920
Saul-Wilson Syndrome	Short metatarsal, Talipes equinovarus, Cone-shaped epiphyses of the phalanges of the hand, Flared...	OMIM:618150
Mandibuloacral Dysplasia Progeroid Syndrome	Hypertriglyceridemia, Postnatal growth retardation, Hepatomegaly, Macrovesicular hepatic steatosi...	OMIM:619127
2Q37 Microdeletion Syndrome	Nephroblastoma, Obesity, Multicystic kidney dysplasia, Short stature	ORPHA:1001
Au-Kline Syndrome	Vesicoureteral reflux, Failure to thrive, Hydronephrosis, Chronic kidney disease, Dilatation of t...	OMIM:616580
Eec Syndrome	Renal hypoplasia/aplasia, Hypospadias, Vesicoureteral reflux, Hypoplasia of the thymus, Short sta...	ORPHA:1896
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Anemia	ORPHA:329971
Coenzyme Q10 Deficiency, Primary, 5	Hypothermia, Hyperalaninemia, Left ventricular hypertrophy	OMIM:614654
Familial Tumoral Calcinosis	Nephrocalcinosis, Splenomegaly, Hepatomegaly	ORPHA:53715
Kyphomelic Dysplasia	Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, Tibial bowing, Femoral b...	OMIM:211350
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Finger syndactyly, Split hand, Rudimentary to a...	ORPHA:958
Raine Syndrome	Short stature, Hydronephrosis, Hydroureter, Hypophosphatemia	OMIM:259775
Basel-Vanagaite-Smirin-Yosef Syndrome	Male urethral meatus stenosis, Hydronephrosis, Hypospadias, Cholelithiasis	ORPHA:464738
Boomerang Dysplasia	Absent radius, Fibular aplasia, Hypoplastic iliac body	OMIM:112310
Orofaciodigital Syndrome I	Polycystic kidney dysplasia, Short stature, Ovarian cyst, Proteinuria, Hepatic cysts, Hepatic fib...	OMIM:311200
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Postnatal growth retardation, Hepatomegaly, Cholelithiasis, B lymphocytopenia, Pancreatic hypopla...	ORPHA:83617
Holoprosencephaly 3	Hydronephrosis	OMIM:142945
Mckusick-Kaufman Syndrome	Polycystic kidney dysplasia, Hydronephrosis, Hydroureter, Vesicovaginal fistula	OMIM:236700
Trisomy 18	Cachexia, Abnormality of the upper urinary tract, Short stature, Growth delay, Hydronephrosis, In...	ORPHA:3380
Cockayne Syndrome A	Hepatomegaly, Renal insufficiency, Severe postnatal growth retardation, Thymic hormone decreased,...	OMIM:216400
Juvenile Polyposis Syndrome	Hypoalbuminemia, Anemia, Hypokalemia	OMIM:174900
Paroxysmal Nocturnal Hemoglobinuria 1	Paroxysmal nocturnal hemoglobinuria	OMIM:300818
Cocaine Intoxication	Acute kidney injury, Hematuria, Elevated circulating creatine kinase concentration, Proteinuria, ...	ORPHA:90068
Otopalatodigital Syndrome Type 2	Failure to thrive, Ureteral obstruction, Hydronephrosis, Hypospadias	ORPHA:90652
Mosaic Trisomy 1	Renal cortical cysts, Renal cyst, Hepatic agenesis, Penile hypospadias, Micropenis	ORPHA:1692
Diamond-Blackfan Anemia 1	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:105650
Lymphangioleiomyomatosis	Renal neoplasm, Hematuria, Lymphadenopathy, Abnormality of the lymphatic system, Ascites, Multipl...	ORPHA:538
Pure Mitochondrial Myopathy	Recurrent myoglobinuria	ORPHA:254854
Mucopolysaccharidosis Type 6	Mucopolysacchariduria, Failure to thrive, Splenomegaly, Disproportionate short-trunk short stature	ORPHA:583
Joubert Syndrome 1	Hepatic fibrosis, Nephropathy, Renal cyst	OMIM:213300
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Postnatal growth retardation, Unilateral renal agenesis, Hypospadias, Abnormality of the lymphati...	ORPHA:487796
Dubowitz Syndrome	Postnatal growth retardation, Anemia, Hypospadias, Short stature, Acute lymphoblastic leukemia, H...	ORPHA:235
Carney Triad	Ascites, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:139411
Cousin Syndrome	Disproportionate short stature, Hydronephrosis, Rhizomelia	OMIM:260660
Focal Dermal Hypoplasia	Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Horseshoe kidney, Hydronephrosis	ORPHA:2092
Scheie Syndrome	Mucopolysacchariduria, Hepatomegaly, Splenomegaly	ORPHA:93474
Schinzel-Giedion Midface Retraction Syndrome	Postnatal growth retardation, Hydroureter, Hypospadias, Ureteral stenosis, Splenopancreatic fusio...	OMIM:269150
Acromelic Frontonasal Dysostosis	Patellar hypoplasia, Mesomelic leg shortening, Syndactyly, Preaxial hand polydactyly, Short tibia...	OMIM:603671
Arteriosclerosis, Severe Juvenile	Anemia	OMIM:208060
Microgastria-Limb Reduction Defect Syndrome	Renal hypoplasia/aplasia, Hepatomegaly, Renal agenesis, Failure to thrive, Growth delay, Crossed ...	ORPHA:2538
White-Kernohan Syndrome	Obesity, Hydronephrosis, Hydroureter, Horseshoe kidney	OMIM:619426
Tuberous Sclerosis 1	Pulmonary lymphangiomyomatosis, Renal cell carcinoma, Renal angiomyolipoma, Renal cyst	OMIM:191100
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Frontometaphyseal Dysplasia 1	Hydronephrosis, Hydroureter	OMIM:305620
Von Hippel-Lindau Syndrome	Hepatic hemangioma, Neoplasm of the pancreas, Renal cell carcinoma, Polycythemia, Multiple renal ...	OMIM:193300
Thauvin-Robinet-Faivre Syndrome	Large for gestational age, Renal cyst, Transient neutropenia, Bifid ureter, Renal dysplasia, Rena...	OMIM:617107
Cardiofaciocutaneous Syndrome	Short stature, Failure to thrive in infancy, Hydronephrosis	ORPHA:1340
Hyperlipoproteinemia, Type Id	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Increa...	OMIM:615947
Cranioectodermal Dysplasia 2	Hepatomegaly, Portal fibrosis, Cholangitis, Rhizomelia, Hyperbilirubinemia, Cholestasis, Biliary ...	OMIM:613610
Familial Mediterranean Fever	Hepatomegaly, Elevated circulating C-reactive protein concentration, Leukocytosis, Nephrotic synd...	OMIM:249100
Alg9-Cdg	Enlarged kidney, Hepatomegaly, Rhizomelia, Periportal fibrosis, Abnormal renal artery morphology,...	ORPHA:79328
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Hypothermia	OMIM:615026
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Fibular bowing, Tibial bowing, Femoral bowing, Metaphyseal chondrodysplasia, Aplasia/Hypoplasia o...	ORPHA:85165
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Jaundice, Methylmalonic acidemia, Hypothermia, Hyperhomocystinemia, Megaloblastic anemia, Elevate...	ORPHA:79282
Lymphatic Malformation 7	Anemia, Ascites	OMIM:617300
Digeorge Syndrome	Anemia, Unilateral renal agenesis, Cholelithiasis, Hypocalcemia, Hypoplasia of the thymus, Impair...	OMIM:188400
Acute Interstitial Pneumonia	Elevated circulating creatinine concentration, Reduced hematocrit, Lymphadenopathy, Elevated circ...	ORPHA:79126
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Polycystic kidney dysplasia, Hyperechogenic kidneys	OMIM:617866
Fibrochondrogenesis 1	Narrow greater sciatic notch, Fibular hypoplasia, Rhizomelia, Clinodactyly of the 5th finger, Sho...	OMIM:228520
Bardet-Biedl Syndrome	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Childhood-onset truncal obesity, H...	ORPHA:110
Fryns Syndrome	Large for gestational age, Ureteral duplication, Hypospadias, Renal cyst, Renal agenesis, Hydrone...	OMIM:229850
3Mc Syndrome 1	Growth delay, Hydronephrosis, Postnatal growth retardation	OMIM:257920
Floating-Harbor Syndrome	Hypospadias, Polycystic kidney dysplasia, Renal cyst, Renal agenesis, Short stature, Growth delay...	ORPHA:2044
Omodysplasia 2	Fibular hypoplasia, Clinodactyly of the 5th finger, Dislocated radial head, Rhizomelic arm shorte...	OMIM:164745
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Monoclonal immunoglobulin M prote...	ORPHA:33226
7Q11.23 Microduplication Syndrome	Unilateral renal agenesis, Hypospadias, Enuresis, Short stature, Growth delay, Obesity, Hydroneph...	ORPHA:96121
Occipital Horn Syndrome	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Gr...	OMIM:304150
Opitz Gbbb Syndrome	Hypospadias, Vesicoureteral reflux, Short stature, Hydronephrosis, Enlarged ovaries, Abnormality ...	ORPHA:2745
Epidermal Nevus Syndrome	Polycystic kidney dysplasia	ORPHA:35125
Tuberous Sclerosis Complex	Abnormality of the kidney, Polycystic kidney dysplasia, Renal cell carcinoma, Renal cyst, Chronic...	ORPHA:805
Intellectual Developmental Disorder, Autosomal Dominant 42	Neurogenic bladder, Growth delay, Failure to thrive, Ureteropelvic junction obstruction, Hydronep...	OMIM:616973
Hennekam Syndrome	Ectopic kidney, Lymphadenopathy, Hypocalcemia, Decreased circulating antibody level, Ascites, Lym...	ORPHA:2136
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Hypertaurinemia, Hypothermia, Elevated circulating alanine aminotransferase concentration, Elevat...	OMIM:245400
Gastrointestinal Stromal Tumor	Abnormality of the liver, Anemia	ORPHA:44890
Hypocalcemic Vitamin D-Dependent Rickets	Postnatal growth retardation, Hypocalcemic seizures, Hepatomegaly, Generalized aminoaciduria, Hyp...	ORPHA:289157
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Abnormal renal collecting system morphology, Hydroureter, Unilateral renal dysplasia, Congenital ...	ORPHA:280633
Occipital Horn Syndrome	Abnormal fibula morphology, Humerus varus, Genu valgum, Large iliac wing, Abnormal pubic bone mor...	ORPHA:198
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Hydronephrosis, Urethral atresia	OMIM:271520
Carnitine-Acylcarnitine Translocase Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypothermia, Decreased cir...	ORPHA:159
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Hydroureter, Duplicated collecting system, Vesicoureteral reflux, Ureterocele, Renal agenesis, Hy...	OMIM:604292
Oeis Complex	Epispadias, Hydroureter, Duplicated collecting system, Vesicovaginal fistula, Pelvic kidney, Rena...	OMIM:258040
Crimean-Congo Hemorrhagic Fever	Jaundice, Hematuria, Hepatomegaly, Lymphadenopathy, Pancytopenia, Increased circulating IgG level...	ORPHA:99827
Mesomelia-Synostoses Syndrome	Narrow foot, Carpometacarpal synostosis, Short metatarsal, Metacarpal synostosis, Distal femoral ...	OMIM:600383
Phocomelia, Schinzel Type	Hypoplasia of the radius, Fibular aplasia, Aplasia/Hypoplasia of the sacrum, Abnormal tibia morph...	ORPHA:2879
Smith-Lemli-Opitz Syndrome	Renal hypoplasia/aplasia, Abnormality of the gallbladder, Hypospadias, Rhizomelia, Hypoplasia of ...	ORPHA:818
Jacobsen Syndrome	Annular pancreas, Short stature, Bone marrow hypocellularity, Growth delay, Hydronephrosis, Throm...	ORPHA:2308
Joubert Syndrome 21	Hyperechogenic kidneys, Splenomegaly, Renal cyst	OMIM:615636
Primary Sclerosing Cholangitis	Cirrhosis, Jaundice, Abnormal biliary tract morphology, Pancreatitis, Cholelithiasis, Hepatomegal...	ORPHA:171
Cogan Syndrome	Thrombocytosis, Anemia, Leukocytosis	ORPHA:1467
Trisomy 8P	Annular pancreas, Nephrocalcinosis, Hydronephrosis, Fetal pyelectasis, Micropenis, Aplasia/Hypopl...	ORPHA:264450
Relapsing Polychondritis	Glomerulopathy, Hematuria, Hepatitis, Proteinuria, Renal insufficiency	ORPHA:728
Monosomy 22Q13.3	Vesicoureteral reflux, Obesity, Hydronephrosis, Recurrent pyelonephritis, Renal dysplasia	ORPHA:48652
Beckwith-Wiedemann Syndrome	Large for gestational age, Enlarged kidney, Ureteral duplication, Hepatomegaly, Cardiomegaly, Con...	ORPHA:116
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Megacystis, Hydroureter, Multicystic kidney dysplasia	ORPHA:2241
Biotinidase Deficiency	Hyperammonemia, Hepatomegaly, Organic aciduria, Splenomegaly	OMIM:253260
Chops Syndrome	Vesicoureteral reflux, Short stature, Obesity, Splenomegaly, Horseshoe kidney	OMIM:616368
Kenny-Caffey Syndrome, Type 2	Hypocalcemia, Hyperphosphatemia, Anemia, Transient hypophosphatemia	OMIM:127000
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Periportal fibrosis, Ascites, Renal hypoplasia, Splenomegaly, Intrauterine growth r...	OMIM:269860
Familial Thyroid Dyshormonogenesis	Prolonged neonatal jaundice, Abnormal circulating thyroglobulin concentration, Hypothermia, Neona...	ORPHA:95716
Tetraamelia-Multiple Malformations Syndrome	Multicystic kidney dysplasia	ORPHA:3301
Sarcoidosis	Decreased liver function, Abnormal liver parenchyma morphology, Hepatomegaly, Anemia, Lymphadenop...	ORPHA:797
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Cardiomegaly, Renal cortical cysts, Vesicoureteral reflux, Nephrol...	OMIM:130650
Thrombocytopenia-Absent Radius Syndrome	Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia/hypoplasia of the hu...	OMIM:274000
Intrahepatic Cholestasis Of Pregnancy	Jaundice, Abnormality of the pancreas, Increased serum bile acid concentration, Hyperbilirubinemi...	ORPHA:69665
Histiocytoid Cardiomyopathy	Hepatomegaly, Renal cyst, Failure to thrive, Cardiomegaly, Polycystic ovaries	ORPHA:137675
Okamoto Syndrome	Urinary incontinence, Severe postnatal growth retardation, Ureteropelvic junction obstruction, Hy...	ORPHA:2729
Melnick-Needles Syndrome	Failure to thrive, Hydronephrosis, Ureteral stenosis	OMIM:309350
Phelan-Mcdermid Syndrome	Abnormality of the kidney, Vesicoureteral reflux, Polycystic kidney dysplasia	OMIM:606232
Schinzel-Giedion Syndrome	Annular pancreas, Hypospadias, Nephrolithiasis, Renal cyst, Abnormality of the ureter, Hydronephr...	ORPHA:798
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypothermia, Hyp...	ORPHA:26793
Apert Syndrome	Hydronephrosis, Rhizomelic arm shortening	OMIM:101200
Robinow Syndrome	Multicystic kidney dysplasia, Short stature, Hydronephrosis, Webbed penis, Micropenis, Small for ...	ORPHA:97360
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Large for gestational age, Hepatomegaly, Duplicated collecting system, Acute lymphoblastic leukem...	OMIM:280000
Chime Syndrome	Acute leukemia, Abnormality of the kidney, Hydronephrosis	ORPHA:3474
Holoprosencephaly	Hypoplasia of penis, Hyponatremia, Abnormality of the spleen, Proteinuria, Failure to thrive in i...	ORPHA:2162
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Split hand, Rudimentary to absent tibiae, Missi...	OMIM:200980
1P36 Deletion Syndrome	Abnormality of the kidney, Annular pancreas, Hypospadias, Hypoplasia of penis, Renal cyst, Short ...	ORPHA:1606
Autosomal Recessive Robinow Syndrome	Hydronephrosis, Multicystic kidney dysplasia, Disproportionate short-limb short stature, Hypoplas...	ORPHA:1507
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Hydroureter, Duplicated collecting system, Vesicoureteral reflux, Ureterocele, Renal agenesis, Hy...	OMIM:129900
Attenuated Familial Adenomatous Polyposis	Multiple renal cysts	ORPHA:220460
Frontometaphyseal Dysplasia	Growth delay, Ureteral obstruction, Hydronephrosis, Urethral stenosis	ORPHA:1826
Kawasaki Disease	Cervical lymphadenopathy, Jaundice, Elevated circulating C-reactive protein concentration, Leukoc...	ORPHA:2331
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Hydronephrosis, Multicystic kidney dysplasia, Elevated circulating creatine kinase concentration,...	OMIM:615287
Koolen-De Vries Syndrome Due To A Point Mutation	Postnatal growth retardation, Hypospadias, Recurrent urinary tract infections, Vesicoureteral ref...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Postnatal growth retardation, Hypospadias, Recurrent urinary tract infections, Vesicoureteral ref...	ORPHA:363958
Von Hippel-Lindau Disease	Elevated urinary catecholamine level, Neoplasm of the pancreas, Pancreatic islet cell adenoma, Re...	ORPHA:892
Robinow Syndrome, Autosomal Recessive 1	Hypospadias, Nephrolithiasis, Short stature, Hydronephrosis, Renal duplication, Nephrocalcinosis,...	OMIM:268310
Schneckenbecken Dysplasia	Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Increased fibular...	ORPHA:3144
Porphyria, Congenital Erythropoietic	Jaundice, Hepatomegaly, Red urine, Cholelithiasis, Short stature, Elevated circulating uroporphyr...	OMIM:263700
Spontaneous Periodic Hypothermia	Hypothermia	ORPHA:29822
Cutis Marmorata Telangiectatica Congenita	Displacement of the urethral meatus, Multicystic kidney dysplasia, Ascites, Intrauterine growth r...	ORPHA:1556
Developmental And Epileptic Encephalopathy 78	Hypothermia	OMIM:618557
Acromelic Frontonasal Dysplasia	Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Preaxial foot polydactyly, Talipes equinovarus	ORPHA:1827
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Annular pancreas, Hypospadias, Vesicoureteral reflux, Renal cyst, Short stature, Intrauterine gro...	OMIM:616975
Williams Syndrome	Abnormal circulating lipid concentration, Hypoplasia of penis, Nephrocalcinosis, Multiple renal c...	ORPHA:904
Hajdu-Cheney Syndrome	Hypospadias, Polycystic kidney dysplasia, Renal cyst, Short stature, Failure to thrive	OMIM:102500
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urinary incontinence, Hypospadias, Pelvic kidney, Grade III vesicoureteral reflux, Enuresis, Rena...	OMIM:619522
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Hypothermia	OMIM:610006
Aymé-Gripp Syndrome	Short stature, Postnatal growth retardation, Proteinuria	ORPHA:1272
Meckel Syndrome 14	Polycystic kidney dysplasia, Hepatic fibrosis	OMIM:619879
Distal Deletion 15Q	Postnatal growth retardation, Hypospadias, Multicystic kidney dysplasia, Short stature, Failure t...	ORPHA:1596
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hypospadias, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithiasis, Short st...	ORPHA:353281
Timothy Syndrome	Hypocalcemia, Hypothermia, Cardiomegaly	OMIM:601005
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Large for gestational age, Enlarged kidney, Chronic neutropenia, Transient neutropenia, Bifid ure...	ORPHA:500095
Knobloch Syndrome 1	Renal duplication, Hydronephrosis, Bifid ureter, Duplicated collecting system	OMIM:267750
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Annular pancreas, Hydroureter, Hypospadias, Dilatation of the bladder, Asplenia, Hydronephrosis, ...	OMIM:265380
Pagod Syndrome	Short stature, Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Abnormality of the spleen	ORPHA:991
Cerebrocostomandibular Syndrome	Intrauterine growth retardation, Multicystic kidney dysplasia, Short stature	ORPHA:1393
Johanson-Blizzard Syndrome	Intrahepatic cholestasis, Hepatomegaly, Hypospadias, Hypocalcemia, Severe intrauterine growth ret...	OMIM:243800
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Growth delay, Hydronephrosis, Vesicoureteral reflux	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Growth delay, Hydronephrosis, Vesicoureteral reflux	ORPHA:352665
Osteogenesis Imperfecta, Type Vii	Short stature, Hydronephrosis, Rhizomelia	OMIM:610682
Kabuki Syndrome 1	Postnatal growth retardation, Short stature, Growth delay, Ureteropelvic junction obstruction, Hy...	OMIM:147920
Tetrasomy 9P	Jaundice, Biliary atresia, Recurrent urinary tract infections, Intrauterine growth retardation, H...	ORPHA:3310
Trisomy 10P	Abnormality of the kidney, Small for gestational age, Growth delay, Multiple renal cysts, Absent ...	ORPHA:171929
Cardiac Valvular Dysplasia 1	Hydronephrosis, Hydroureter, Urethral diverticulum	OMIM:212093
N-Acetylglutamate Synthase Deficiency	Hypothermia, Hyperglutamatemia, Hyperalaninemia, Hyperammonemia, Low plasma citrulline, Hyperglut...	OMIM:237310
Combined Oxidative Phosphorylation Deficiency 37	Decreased liver function, Hypothermia, Macrovesicular hepatic steatosis, Elevated circulating hep...	OMIM:618329
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Disproportionate short-limb short stature, Hypoplasia of penis, Renal cyst, Renal hypoplasia, Ure...	ORPHA:93271
Peters Plus Syndrome	Postnatal growth retardation, Renal hypoplasia/aplasia, Ureteral duplication, Hypospadias, Dispro...	ORPHA:709
Meckel Syndrome, Type 1	Accessory spleen, Polycystic kidney dysplasia, Intrauterine growth retardation, Abnormality of th...	OMIM:249000
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Hydronephrosis, S...	ORPHA:2636
Floating-Harbor Syndrome	Hypospadias, Glandular hypospadias, Short stature, Nephrocalcinosis, Hydronephrosis, Congenital p...	OMIM:136140
Mosaic Variegated Aneuploidy Syndrome	Ascites, Short stature, Growth delay, Acute lymphoblastic leukemia, Nephroblastoma, Multicystic k...	ORPHA:1052
Cerebrocostomandibular Syndrome	Postnatal growth retardation, Horseshoe kidney, Ectopic kidney, Renal cyst	OMIM:117650
Meckel Syndrome	Ureteral duplication, Accessory spleen, Pancreatic cysts, Asplenia, Congenital hepatic fibrosis, ...	ORPHA:564
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Abnormal circulating interleukin concentration, Elevated circulating C-reactive protein concentra...	ORPHA:85435
Rubinstein-Taybi Syndrome 1	Postnatal growth retardation, Hepatic hemangioma, Hypospadias, Accessory spleen, Short stature, F...	OMIM:180849
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ...	OMIM:276820
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Nephrotic syndrome, Hydronephrosis	OMIM:601776
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Prolonged neonatal jaundice, Hypothermia	ORPHA:226313
Gabriele-De Vries Syndrome	Intrauterine growth retardation, Ureteropelvic junction obstruction, Hydronephrosis, Small for ge...	ORPHA:506358
Lipodystrophy, Congenital Generalized, Type 1	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Acute pancreatitis, Nephrolithiasis, Splenomegaly,...	OMIM:608594
22Q11.2 Deletion Syndrome	Hypospadias, Cholelithiasis, Hypocalcemia, Polycystic kidney dysplasia, Abnormality of the tonsil...	ORPHA:567
Charge Syndrome	Postnatal growth retardation, Delayed puberty, Vesicoureteral reflux, Short stature, Hydronephros...	ORPHA:138
Hydrolethalus Syndrome 1	Upper limb undergrowth, Postaxial hand polydactyly, Duplication of phalanx of hallux, Micrognathi...	OMIM:236680
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Hypothermia	OMIM:616501
Oligoarticular Juvenile Idiopathic Arthritis	Increased circulating interferon-gamma concentration, Failure to thrive, Abnormal circulating int...	ORPHA:85410
Spondylocarpotarsal Synostosis Syndrome	Disproportionate short-trunk short stature, Renal cyst	OMIM:272460
Menkes Disease	Hypothermia, Decreased circulating ceruloplasmin concentration	OMIM:309400
Campomelic Dysplasia	Absent sternal ossification, Dislocated radial head, Hypoplastic iliac wing, Femoral bowing, Shor...	OMIM:114290
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Hypothermia	OMIM:614498
Hajdu-Cheney Syndrome	Delayed puberty, Hepatomegaly, Hypospadias, Short stature, Failure to thrive, Splenomegaly, Multi...	ORPHA:955
Lipodystrophy, Congenital Generalized, Type 2	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Acute pancreatitis, Nephrolithiasis, Splenomegaly,...	OMIM:269700
Alkaptonuria	Black pigment gallstones, Hemolytic anemia, Methemoglobinemia	ORPHA:56
Arboleda-Tham Syndrome	Intrauterine growth retardation, Recurrent urinary tract infections, Hydronephrosis, Growth delay	OMIM:616268
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Anemia, Vesicoureteral reflux, Nephrolithiasis, Short stature, Hydronephrosis, Decreased circulat...	ORPHA:438213
Coffin-Siris Syndrome 1	Postnatal growth retardation, Hydroureter, Ectopic kidney, Hypospadias, Short stature, Renal hypo...	OMIM:135900
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Polycystic kidney dysplasia, Micropenis	OMIM:616546
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Postnatal growth retardation, Abnormality of the kidney, Hypospadias, Recurrent urinary tract inf...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Postnatal growth retardation, Abnormality of the kidney, Hypospadias, Recurrent urinary tract inf...	ORPHA:353277
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Hepatic arteriovenous malformation, Anemia	OMIM:175050
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Growth delay, Fai...	ORPHA:2273
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Mediastinal lymphadenopathy, Increased circulating antibody level, Pancytopenia, Hy...	OMIM:181000
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia, Hypospadias, Dilatation of renal calices, Recurrent urinary tract infection...	ORPHA:3455
Simpson-Golabi-Behmel Syndrome, Type 1	Enlarged kidney, Hepatomegaly, Hypospadias, Renal cyst, Hydronephrosis, Splenomegaly, Right ventr...	OMIM:312870
Roberts Syndrome	Postnatal growth retardation, Long penis, Polycystic kidney dysplasia, Severe intrauterine growth...	ORPHA:3103
Robinow Syndrome, Autosomal Dominant 1	Rhizomelia, Short stature, Hydronephrosis, Renal duplication, Micropenis	OMIM:180700
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Disproportionate short stature, Severe postnatal growth retardation, Polycystic kidney dysplasia,...	OMIM:210710
Meningococcal Meningitis	Hypothermia, Elevated circulating C-reactive protein concentration	ORPHA:33475
Doors Syndrome	Hydronephrosis, Increased urine alpha-ketoglutarate concentration, Nephrocalcinosis, Thrombocytos...	ORPHA:79500
Peters-Plus Syndrome	Bilobate gallbladder, Postnatal growth retardation, Ureteral duplication, Rhizomelia, Hypospadias...	OMIM:261540
Lacrimoauriculodentodigital Syndrome	Renal hypoplasia, Hydronephrosis, Vesicoureteral reflux	ORPHA:2363
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Abnormal circulating interleukin concentration, Lymphadenitis	ORPHA:319552
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Hypothermia	ORPHA:168593
Ogden Syndrome	Postnatal growth retardation, Enlarged kidney, Jaundice, Macrovesicular hepatic steatosis, Iron d...	OMIM:300855
Townes-Brocks Syndrome	Delayed puberty, Abnormality of the kidney, Ectopic kidney, Hypospadias, Hypoplasia of penis, Ves...	ORPHA:857
Osteopathia Striata With Cranial Sclerosis	Short stature, Failure to thrive, Multicystic kidney dysplasia	OMIM:300373
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Short stature, Abnormal renal morphology, Renal hypoplasia/aplasia, Hydronephrosis	ORPHA:363700
Charge Syndrome	Postnatal growth retardation, Delayed puberty, Hypocalcemia, Renal agenesis, Renal hypoplasia, Hy...	OMIM:214800
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Genetic Transient Congenital Hypothyroidism	Increased circulating thyroglobulin concentration, Prolonged neonatal jaundice, Hypothermia	ORPHA:226316
Hypothyroidism Due To Tsh Receptor Mutations	Increased circulating thyroglobulin concentration, Prolonged neonatal jaundice, Hypothermia, Neon...	ORPHA:90673
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Hypospadias, Renal cyst	ORPHA:495875
C Syndrome	Renal hypoplasia/aplasia, Short stature, Failure to thrive in infancy, Multicystic kidney dysplas...	ORPHA:1308
Otopalatodigital Syndrome, Type Ii	Rocker bottom foot, Femoral bowing, Short ribs, Short metacarpal, Tibial bowing, Broad thumb, Pos...	OMIM:304120
Sotos Syndrome	Abnormality of the kidney, Ureteral duplication, Hypospadias, Phimosis, Vesicoureteral reflux, Re...	ORPHA:821
Focal Dermal Hypoplasia	Ureteral duplication, Short stature, Hydronephrosis, Bifid ureter, Horseshoe kidney	OMIM:305600
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Urinary incontinence, Hypospadias, Multicystic kidney dysplasia, Pelvic kidney, Vesicoureteral re...	ORPHA:261537
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Hypocalcemia, Hydronephrosis	OMIM:620330
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Proteinuria	OMIM:616682
Mowat-Wilson Syndrome	Abnormality of the kidney, Urinary incontinence, Hypospadias, Multicystic kidney dysplasia, Pelvi...	ORPHA:2152
Hereditary Sensory And Autonomic Neuropathy Type 4	Tooth abscess, Hypothermia, Anemia, Abscess	ORPHA:642
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Delayed puberty, Cyst of the ductus choledochus, Short stature, Hydronephrosis, Renal dysplasia	ORPHA:480880
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Short stature, Splenomegaly, Hepatomegaly, Horseshoe kidney	OMIM:617088
Townes-Brocks Syndrome 1	Hypospadias, Renal insufficiency, Vesicoureteral reflux, Renal hypoplasia, Urethral valve, Renal ...	OMIM:107480
Genitopatellar Syndrome	Hydronephrosis, Micropenis, Multicystic kidney dysplasia	OMIM:606170
Cornelia De Lange Syndrome	Delayed puberty, Hypospadias, Multicystic kidney dysplasia, Hypoplasia of penis, Severe postnatal...	ORPHA:199
Isolated Thyroid-Stimulating Hormone Deficiency	Hypothermia, Abnormal circulating thyroglobulin concentration, Prolonged neonatal jaundice, Neona...	ORPHA:90674
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Urinary incontinence, Hypospadias, Multicystic kidney dysplasia, Pelvic kidney, Vesicoureteral re...	ORPHA:261552
Ulbright-Hodes Syndrome	Postnatal growth retardation, Polycystic kidney dysplasia, Severe intrauterine growth retardation...	ORPHA:3404
Orofaciodigital Syndrome Type 4	Finger syndactyly, Postaxial hand polydactyly, Split hand, Micromelia, Camptodactyly of finger, A...	ORPHA:2753
Acrofacial Dysostosis, Cincinnati Type	Decreased body weight, Short stature, Failure to thrive, Hydronephrosis, Intrauterine growth reta...	OMIM:616462
Viss Syndrome	Increased circulating IgG level, Increased circulating IgE level, Short stature, Failure to thriv...	OMIM:619472
Proteus Syndrome	Enlarged kidney, Long penis, Cachexia, Enlarged polycystic ovaries, Renal cyst, Neoplasm of the t...	ORPHA:744
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypothermia, Methylmalonic...	ORPHA:17
Mitochondrial Dna-Associated Leigh Syndrome	Hepatomegaly, Hypothermia, Hyperalaninemia, Low plasma citrulline, Hepatic failure	ORPHA:255210
Pmm2-Cdg	Abnormal renal tubule morphology, Abnormal liver parenchyma morphology, Reduced thyroxin-binding ...	ORPHA:79318
Cranioectodermal Dysplasia 1	Fibular hypoplasia, Radial deviation of finger, Rhizomelia, Broad toe, Triphalangeal hallux, Shor...	OMIM:218330
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Hypothermia	OMIM:608800
Branchiooculofacial Syndrome	Postnatal growth retardation, Hypospadias, Duplication of internal organs, Renal cyst, Renal agen...	OMIM:113620
Femoral-Facial Syndrome	Abnormal renal collecting system morphology, Polycystic kidney dysplasia, Renal agenesis, Short s...	OMIM:134780
Psoriasis-Related Juvenile Idiopathic Arthritis	Abnormality of tumor necrosis factor secretion	ORPHA:85436
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Hypothermia	OMIM:618493
Tbck-Related Intellectual Disability Syndrome	Abnormal circulating lipid concentration, Hypothermia	ORPHA:488632
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Unilateral renal agenesis, Hypospadias, Renal agenesis, Short stature, Growth delay, Renal dyspla...	OMIM:308205
Roberts-Sc Phocomelia Syndrome	Postnatal growth retardation, Hypospadias, Long penis, Accessory spleen, Polycystic kidney dyspla...	OMIM:268300
Ethylene Glycol Poisoning	Hypocalcemia, Hyperkalemia, Hypothermia	ORPHA:31826
Alexander Disease	Hypothermia	ORPHA:58
Menkes Disease	Prolonged neonatal jaundice, Hypothermia	ORPHA:565
Adult-Onset Autosomal Dominant Leukodystrophy	Hypothermia	ORPHA:99027
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Prolonged neonatal jaundice, Hypothermia	ORPHA:226307
Hypothyroidism, Congenital, Nongoitrous, 2	Increased circulating thyroglobulin concentration, Hyperbilirubinemia, Hypothermia	OMIM:218700
Craniofacial Microsomia 1	Ectopic kidney, Vesicoureteral reflux, Renal agenesis, Ureteropelvic junction obstruction, Multic...	OMIM:164210
Pallister-Killian Syndrome	Rhizomelia, Hypospadias, Mesomelic/rhizomelic limb shortening, Renal cyst, Growth delay, Obesity,...	OMIM:601803
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Elevated circulating hepatic transaminase concentration, Hypothermia, Hyperlipidemia	ORPHA:293987

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 Lgmn

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

IMPC related publications

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

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

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MGI Allele	Allele Type	Produced
Lgmn^{tm1b(NCOM)Mfgc}	Reporter-tagged deletion allele (with selection cassette)	Mice, Tissue
Lgmn^{tm1a(NCOM)Mfgc}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, 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: Lgmn MGI:1330838

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

X-ray

Gross Pathology and Tissue Collection

Immunophenotyping

Immunophenotyping

Eye Morphology

Histopathology

Human diseases caused by Lgmn mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data