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Gene: Sptb MGI:98387

Gene Summary

Name:

spectrin beta, erythrocytic

Synonyms:

LOC383567, Spnb1, Spnb-1, spectrin R, brain erythroid spectrin (235E), D330027P03Rik

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
embryonic lethality prior to organogenesis	Sptb^em1(IMPC)J	HOM	E9.5	0.00
decreased mean corpuscular hemoglobin	Sptb^em1(IMPC)J	HET	Early adult	1.15×10^-15
preweaning lethality, complete penetrance	Sptb^em1(IMPC)J	HOM	Early adult	0.00
decreased exploration in new environment	Sptb^em1(IMPC)J	HET	Early adult	2.32×10^-06
decreased mean corpuscular volume	Sptb^em1(IMPC)J	HET	Early adult	1.80×10^-09

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lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

Images Ophthalmoscopy

3 Images

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Electroretinography 3

Fundus file

11 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

7 Images

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X-ray

XRay Images Whole Body Lateral Orientation

7 Images

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X-ray

XRay Images Skull Lateral Orientation

7 Images

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X-ray

XRay Images Forepaw

7 Images

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X-ray

XRay Images Whole Body Dorso Ventral

7 Images

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Electrocardiogram (ECG)

Waveform Image

16 Images

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Auditory Brain Stem Response

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

8 Images

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Human diseases caused by Sptb 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 Sptb (4 diseases)
Human diseases predicted to be associated with Sptb (1652 diseases)

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

Disease	Matching phenotypes	Source
Spherocytosis, Type 2	Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:616649
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Restrictive cardiomyopathy, Increased mean corpuscu...	ORPHA:822
Hereditary Elliptocytosis	Cholelithiasis, Stomatocytosis, Abnormal erythrocyte morphology, Elliptocytosis, Splenomegaly, Re...	ORPHA:288
Elliptocytosis 3	Intermittent jaundice, Pyropoikilocytosis, Elliptocytosis, Decreased mean corpuscular volume, Chr...	OMIM:617948

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

Disease	Matching phenotypes	Source
Diamond-Blackfan Anemia 19	Anemia, Erythroid hypoplasia, Steroid-responsive anemia	OMIM:618312
Diamond-Blackfan Anemia-Like	Steroid-responsive anemia, Pure red cell aplasia	OMIM:617911
Transient Erythroblastopenia Of Childhood	Anemia, Transient erythroblastopenia	OMIM:227050
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate production, Hepatomega...	OMIM:237800
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate production, Anisocytos...	OMIM:615631
Cyanosis, Transient Neonatal	Reticulocytosis, Cyanosis, Methemoglobinemia, Anemia, Hepatomegaly, Jaundice	OMIM:613977
Hemoglobin-Delta locus	Anemia, Imbalanced hemoglobin synthesis	OMIM:142000
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Diamond-Blackfan Anemia 17	Anemia	OMIM:617409
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol...	ORPHA:766
Reticuloendotheliosis, X-Linked	Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Increased circulating lactate dehydrogenase con...	ORPHA:3203
Spherocytosis, Type 2	Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:616649
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Erythroid hyperplasi...	OMIM:616860
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Ane...	OMIM:615285
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice, Reduced...	OMIM:224100
Spherocytosis, Type 4	Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:612653
Red Cell Phospholipid Defect With Hemolysis	Reticulocytosis, Splenomegaly, Intermittent jaundice	OMIM:179700
Anemia, Sideroblastic, 4	Sideroblastic anemia, Abnormal erythrocyte morphology	OMIM:182170
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Increased circulating lactate dehydrogenase concentration, E...	OMIM:224120
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Spherocytosis, Type 1	Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:182900
Adenylate Kinase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia, Reduced erythrocyte adenylate kinase activity	OMIM:612631
Glutamate-Cysteine Ligase Deficiency	Jaundice, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis	ORPHA:33574
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Diamond-Blackfan Anemia 13	Normocytic anemia, Elevated red cell adenosine deaminase activity	OMIM:615909
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin	ORPHA:231249
Heinz Body Anemias	Heinz bodies, Nonspherocytic hemolytic anemia, Heinz body anemia	OMIM:140700
Anemia, Congenital Dyserythropoietic, Type Iv	Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubinemia, Anemia of inadequate product...	OMIM:613673
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Reticulocytosis, Nonspherocytic h...	OMIM:235700
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Splenomegaly, Reticulocytosis, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Dehydrated Hereditary Stomatocytosis	Neonatal hyperbilirubinemia, Anemia of inadequate production, Increased circulating hemoglobin co...	ORPHA:3202
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hepatomegaly, P...	OMIM:185000
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th...	ORPHA:444463
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia	OMIM:618310
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Splenomega...	ORPHA:251380
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemoglobin, Splenomegaly, Erythroc...	OMIM:603902
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To	Reduced erythrocyte gamma-glutamyl cysteine synthetase activity, Increased circulating lactate de...	OMIM:230450
Harderoporphyria	Splenomegaly, Reticulocytosis, Cutaneous photosensitivity, Hepatomegaly, Prolonged neonatal jaund...	OMIM:618892
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Polycystic Kidney Disease 5	Hyperechogenic kidneys, Hepatosplenomegaly, Reduced renal corticomedullary differentiation, Stage...	OMIM:617610
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis	OMIM:603529
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Hypochromic anemia, Abnormal circulating lactate dehydrogenase concentration, Anemia of inadequat...	ORPHA:67044
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Splenomegaly, Chol...	OMIM:266200
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Bruising susceptibility, Reduced platelet alpha granules, Retic...	OMIM:314050
Acetophenetidin Sensitivity	Methemoglobinemia, Hemolytic anemia	OMIM:200300
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
Rh Deficiency Syndrome	Stomatocytosis, Increased circulating lactate dehydrogenase concentration, Hepatosplenomegaly, Re...	ORPHA:71275
Hepatorenocardiac Degenerative Fibrosis	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hyperechogeni...	OMIM:619902
Cryohydrocytosis	Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis	OMIM:185020
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Hepatitis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, Ret...	OMIM:194380
Spherocytosis, Type 3	Hemolytic anemia, Spherocytosis	OMIM:270970
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia	OMIM:205950
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function	ORPHA:231393
Pyropoikilocytosis, Hereditary	Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis, Elliptocytosis	OMIM:266140
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Restrictive cardiomyopathy, Increased mean corpuscu...	ORPHA:822
Thrombotic Thrombocytopenic Purpura, Hereditary	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Reticulocytosis...	OMIM:274150
Immunodeficiency, Common Variable, 6	Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat...	OMIM:613496
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Hemolytic Anemia With Thermal Sensitivity Of Red Cells	Congenital hemolytic anemia	OMIM:235370
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain	Compensated hemolytic anemia	OMIM:142309
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane	Nonspherocytic hemolytic anemia	OMIM:206300
6-Phosphogluconolactonase Deficiency	Hemolytic anemia	OMIM:172150
Anemia, Hypochromic Microcytic, With Iron Overload 2	Sideroblastic anemia, Splenomegaly, Anemia, Elevated hepatic iron concentration, Poikilocytosis, ...	OMIM:615234
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome...	ORPHA:846
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Acanthocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Poikilocytosis	OMIM:300367
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Splenomegaly, Reticulocytosis	OMIM:612126
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta...	OMIM:616278
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration...	ORPHA:300298
Elliptocytosis 1	Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis	OMIM:611804
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Bone marrow hypocellularity, Increased circulating lactate dehydrogenase concentration, Abnormal ...	ORPHA:86841
Tn Polyagglutination Syndrome	Abnormal erythrocyte morphology	OMIM:300622
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Splenomegaly, Anemia, Lymphadenopathy, Neutropenia, Thrombocytopenia, Hepatomeg...	OMIM:603552
Erythroleukemia, Familial, Susceptibility To	Leukemia, Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, ...	OMIM:133180
Glutathione Synthetase Deficiency	Hemolytic anemia, Reduced glutathione synthetase level	ORPHA:32
Ras-Associated Autoimmune Leukoproliferative Disorder	Leukemia, Pancytopenia, Splenomegaly, Follicular hyperplasia, Lymphocytosis, Neutropenia, Monocyt...	OMIM:614470
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:235400
Beta-Thalassemia Major	Hepatic fibrosis, Hypoplasia of the musculature, Dilated cardiomyopathy, Reduced hemoglobin A, Ex...	ORPHA:231214
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Spastic Paraplegia And Evans Syndrome	Autoimmune thrombocytopenia, Coombs-positive hemolytic anemia	OMIM:601608
Woronets Trait	Red blood cell keratocytosis	OMIM:194320
Nephrotic Syndrome, Type 7	Thickened glomerular basement membrane, Hypoalbuminemia, Acute kidney injury, Stage 5 chronic kid...	OMIM:615008
Chromosome 5Q Deletion Syndrome	Erythroid hypoplasia, Refractory macrocytic anemia, Anemia of inadequate production	OMIM:153550
Primary Myelofibrosis	Increased circulating lactate dehydrogenase concentration, Extramedullary hematopoiesis, Hepatosp...	ORPHA:824
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevate...	OMIM:620010
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Petechiae, Anemia, Thrombocytopenia, Hepatomegaly	OMIM:611490
Glutathione Peroxidase Deficiency	Compensated hemolytic anemia, Heinz bodies	OMIM:614164
Hereditary Elliptocytosis	Cholelithiasis, Stomatocytosis, Abnormal erythrocyte morphology, Elliptocytosis, Splenomegaly, Re...	ORPHA:288
Aicardi-Goutieres Syndrome 6	Hepatomegaly, Hemolytic anemia, Splenomegaly, Thrombocytopenia	OMIM:615010
Elliptocytosis 3	Intermittent jaundice, Pyropoikilocytosis, Elliptocytosis, Decreased mean corpuscular volume, Chr...	OMIM:617948
Thanatophoric Dysplasia, Glasgow Variant	Anemia, Hepatosplenomegaly, Neonatal death	OMIM:273680
Megaloblastic Anemia, Folate-Responsive	Increased circulating lactate dehydrogenase concentration, Increased circulating ferritin concent...	OMIM:601775
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Hyperechogenic kidneys, Lymphopenia, Leukopenia, Elevated circulating creatinine concentration, R...	OMIM:301110
Malaria	Acute kidney injury, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration, T...	ORPHA:673
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis	OMIM:206200
Peroxisome Biogenesis Disorder 8A (Zellweger)	Elevated circulating aspartate aminotransferase concentration, Death in infancy, Ventricular sept...	OMIM:614876
Rh-Null, Amorph Type	Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis	OMIM:617970
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To	Hemolytic anemia, Reduced glutathione synthetase level, Glyoxalase deficiency	OMIM:231900
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra...	OMIM:619658
Glycogen Storage Disease Vii	Increased variability in muscle fiber diameter, Cholelithiasis, Increased muscle glycogen content...	OMIM:232800
Mcleod Syndrome	Dilated cardiomyopathy, Cardiomyopathy, Elevated circulating aspartate aminotransferase concentra...	OMIM:300842
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Aminoaciduria, Nephrocalcinosis, Cardiomyopathy, Sideroblastic anemia, Splenomegaly, B lymphocyto...	OMIM:616084
Congenital Bile Acid Synthesis Defect Type 1	Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple...	ORPHA:79301
Congenital Toxoplasmosis	Elevated circulating hepatic transaminase concentration, Ascites, Cardiomegaly, Anemia, Lymphaden...	ORPHA:858
Thrombotic Thrombocytopenic Purpura	Acute kidney injury, Microangiopathic hemolytic anemia, Abnormal circulating lactate dehydrogenas...	ORPHA:54057
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg...	OMIM:603903
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Splenomegaly, De...	OMIM:617514
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Decreased glucosephosphate isom...	OMIM:613470
Galactose Epimerase Deficiency	Hepatomegaly, Jaundice, Splenomegaly	ORPHA:79238
Galactosemia Iv	Hepatomegaly, Prolonged neonatal jaundice	OMIM:618881
Galactosemia Iii	Hepatomegaly, Jaundice, Splenomegaly, Decreased beta-galactosidase activity	OMIM:230350
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Bone marrow hypocellularity, Elliptocytosis, Macrocytic anemia,...	OMIM:300835
Cholestasis, Progressive Familial Intrahepatic, 10	Elevated gamma-glutamyltransferase level, Portal fibrosis, Elevated circulating aspartate aminotr...	OMIM:619868
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Anemia of inadequa...	ORPHA:231222
Hemolytic Anemia, Congenital, X-Linked	Jaundice, Hemolytic anemia	OMIM:301015
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Acute kidney injury, Increased circulating lactate dehydrogenase concentration, Anuria, Microangi...	ORPHA:90038
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ...	OMIM:301083
Cholestasis-Lymphedema Syndrome	Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple...	OMIM:214900
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of...	OMIM:610629
Lathosterolosis	Intrahepatic cholestasis, Elevated circulating lathosterol concentration, Hepatic fibrosis, Eleva...	OMIM:607330
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione reductase activity	OMIM:618660
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatocellular necrosis, Hepatosplenomegaly, Leukocytosis, Reticulocytos...	OMIM:618278
Babesiosis	Hepatic failure, Leukopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly, Jaundice, Hemolytic an...	ORPHA:108
Orotic Aciduria	Folate-unresponsive megaloblastic anemia, Impaired T cell function, Oroticaciduria, Anisocytosis,...	OMIM:258900
Nephronophthisis 16	Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Cholestasis, Hypertrophic cardiomyo...	OMIM:615382
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration	Acanthocytosis	OMIM:607236
Developmental And Epileptic Encephalopathy 50	Oroticaciduria, Acanthocytosis, Renal tubular acidosis, Hyperammonemia, Death in childhood, Schis...	OMIM:616457
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic dyserythropoietic anemia, Macrocytic anemia	OMIM:619789
Nephronophthisis	Anemia	ORPHA:655
Congenital Disorder Of Glycosylation, Type Iir	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ...	OMIM:301045
Galactosemia I	Aminoaciduria, Galactosuria, Increased level of galactitol in red blood cells, Decreased liver fu...	OMIM:230400
Neutrophilia, Hereditary	Splenomegaly, Elevated leukocyte alkaline phosphatase, Neutrophilia	OMIM:162830
Igg4-Related Retroperitoneal Fibrosis	Rheumatoid arthritis, Psoriasiform dermatitis, Hematuria, Retrograde ejaculation, Elevated circul...	ORPHA:49041
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Nephrocalcinosis, Hepatosplenomegaly, Distal renal tubular acidosis, Reticulocytosis, Hypokalemia...	OMIM:611590
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Reduced natural killer cell count, Hepatic failure, Elevated circulating hepatic transaminase con...	ORPHA:158057
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I...	ORPHA:79303
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibod...	OMIM:247800
Progressive Familial Intrahepatic Cholestasis	Cholestasis, Hepatomegaly, Jaundice, Splenomegaly	ORPHA:172
Ethanolaminosis	Cardiomegaly	OMIM:227150
Rh-Null, Regulator Type	Jaundice, Stomatocytosis, Hemolytic anemia	OMIM:268150
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an...	OMIM:619375
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Dicarboxylic aciduria, Hepatic steatosis, Agenesis of corpus callosum, Myoglobinuria, Reduced tis...	ORPHA:228308
Glycine N-Methyltransferase Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration	OMIM:606664
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Incre...	OMIM:619644
Congenital Dyserythropoietic Anemia Type Iii	Elevated circulating hepatic transaminase concentration, Increased mean corpuscular volume, Abnor...	ORPHA:98870
Carnitine Palmitoyltransferase Ii Deficiency	Myopathy, Rhabdomyolysis, Agenesis of corpus callosum, Myoglobinuria, Reduced tissue carnitine O-...	ORPHA:157
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro...	ORPHA:35858
Trimethylaminuria	Anemia, Trimethylaminuria, Splenomegaly, Neutropenia	OMIM:602079
Atypical Hemolytic Uremic Syndrome	Acute kidney injury, Microangiopathic hemolytic anemia, Abnormal circulating lactate dehydrogenas...	ORPHA:2134
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Anemia, Granulocytopenia	OMIM:608898
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic ...	OMIM:602347
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly, Decreased circulating total IgM	OMIM:606445
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Cutaneous anergy, Hypersplenism, Pancytopenia, Splenomegaly, Decreased helper T cell proportion	OMIM:183350
Heme Oxygenase 1 Deficiency	Nephritis, Increased circulating lactate dehydrogenase concentration, Increased circulating ferri...	OMIM:614034
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati...	OMIM:616828
Autoinflammatory-Pancytopenia Syndrome	Cholestatic liver disease, Hepatic fibrosis, Type I diabetes mellitus, Hemophagocytosis, Hepatosp...	OMIM:619858
Sitosterolemia 1	Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Increased circulating lactate dehyd...	OMIM:210250
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta...	OMIM:619849
Mu-Heavy Chain Disease	Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Increased circulating ...	ORPHA:100024
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hepatomegaly, Death in childhood, Anisocytosis	OMIM:604273
Abetalipoproteinemia	Acanthocytosis	OMIM:200100
Congenital Disorder Of Glycosylation, Type Icc	Hepatomegaly	OMIM:301031
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia	Anemia	ORPHA:2802
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly	OMIM:618852
Cold Agglutinin Disease	Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy	ORPHA:56425
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hepatomegaly, J...	OMIM:612714
Lecithin:Cholesterol Acyltransferase Deficiency	Renal insufficiency, Hypertriglyceridemia, Proteinuria, Decreased lecithin cholesterol acyl trans...	OMIM:245900
Combined Oxidative Phosphorylation Deficiency 34	Hepatic failure, Hypoglycemia, Elevated circulating creatinine concentration, Pancytopenia, Hepat...	OMIM:617872
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia	OMIM:619523
Sickle Cell Anemia	Splenic infarction, Cholelithiasis, Pigment gallstones, Hypochromic anemia, Increased mean corpus...	ORPHA:232
Glutathione Synthetase Deficiency	Hemolytic anemia, Reduced glutathione synthetase level, Neutropenia	OMIM:266130
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
3-Methylglutaconic Aciduria, Type Viia	Anemia, 3-Methylglutaconic aciduria, Neutropenia, Anisopoikilocytosis	OMIM:619835
Phosphoglycerate Kinase 1 Deficiency	Exercise-induced myoglobinuria, Erythroid hyperplasia, Renal insufficiency, Reticulocytosis, Myop...	OMIM:300653
Autoimmune Lymphoproliferative Syndrome	Chronic noninfectious lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia, Follicular hype...	OMIM:601859
Fetal Cytomegalovirus Syndrome	Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Petechiae, Anem...	ORPHA:294
Sea-Blue Histiocyte Disease	Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega...	OMIM:269600
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Decreased specific pneumococcal antibody level, Minimal change glomerulonephritis, Podocyte foot ...	OMIM:617006
Infantile Sialic Acid Storage Disease	Nephrotic syndrome, Ascites, Splenomegaly, Death in childhood, Cardiomegaly, Hepatomegaly, Vacuol...	OMIM:269920
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Hyperbilirubinemia, Renal insufficiency, Reticulocytosis, Myopathy, Rhabdomyolysis, Myoglobinuria...	ORPHA:713
Porphyria, Acute Hepatic	Elevated urinary delta-aminolevulinic acid, Hemolytic anemia	OMIM:612740
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Decreased liver...	OMIM:617021
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Chronic kidney disease, Hyperechogenic kidneys, Hypomagnesemia, Pancytopenia, Leukopenia, Hyperur...	OMIM:613845
Hepatoportal Sclerosis	Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of t...	ORPHA:64743
Neonatal Lupus Erythematosus	Hepatic failure, Elevated circulating hepatic transaminase concentration, Aplastic anemia, Dilate...	ORPHA:398124
Lathosterolosis	Intrahepatic cholestasis, Hepatic failure, Horseshoe kidney, Abnormal platelet morphology, Thromb...	ORPHA:46059
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Splenomegaly, Elevated circulating alkaline phosphatase concentration, ...	OMIM:601847
Dominant Beta-Thalassemia	Hepatic fibrosis, Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hematopoiesis, Per...	ORPHA:231226
Coproporphyria, Hereditary	Hepatomegaly, Jaundice, Cutaneous photosensitivity, Splenomegaly	OMIM:121300
Cholesteryl Ester Storage Disease	Hepatic failure, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice	ORPHA:75234
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis	OMIM:619398
Drug-Induced Lupus Erythematosus	Malar rash, Petechiae, Elevated circulating creatine kinase concentration, Hematuria, Serositis, ...	ORPHA:231111
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Anemia of inadequate production, Elliptocytosis	OMIM:166910
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Hepatic failure, Portal fibr...	OMIM:617394
Isobutyryl-Coa Dehydrogenase Deficiency	Anemia	OMIM:611283
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Elevated gamma-glutamyltransferase level, Increased urinary glycerol, Cholestasis, Hepatosplenome...	ORPHA:247598
Protoporphyria, Erythropoietic, 1	Erythema, Cholelithiasis, Hemolytic anemia, Hepatic failure	OMIM:177000
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S...	OMIM:612840
Diamond-Blackfan Anemia 16	Anemia	OMIM:617408
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, 3-Methylglutaconic aciduria	OMIM:619813
Elliptocytosis 2	Hemolytic anemia, Reticulocytosis, Elliptocytosis	OMIM:130600
Glycogen Storage Disease Xii	Normocytic anemia, Increased variability in muscle fiber diameter, Cholelithiasis, Increased circ...	OMIM:611881
Alpha-Heavy Chain Disease	Ascites, Splenomegaly, Dysgammaglobulinemia, Anemia, Lymphadenopathy, Hepatomegaly	ORPHA:100025
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Ichthyosis, Congenital, Autosomal Recessive 5	Acanthocytosis	OMIM:604777
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Type I diabetes mellitus, Hepatitis, Eczematoid dermatitis, Increased circulating IgE level, Decr...	OMIM:304790
Renal-Hepatic-Pancreatic Dysplasia 2	Malformation of the hepatic ductal plate, Hepatic fibrosis, Aortic valve stenosis, Cholestasis, H...	OMIM:615415
Wolcott-Rallison Syndrome	Chronic kidney disease, Neonatal insulin-dependent diabetes mellitus, Hypoalbuminemia, Elevated c...	ORPHA:1667
Anemia, Hypochromic Microcytic, With Iron Overload 1	Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia	OMIM:206100
Chylomicron Retention Disease	Elevated circulating hepatic transaminase concentration, Acanthocytosis, Hepatic steatosis, Incre...	ORPHA:71
Hemochromatosis, Type 2B	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Spleno...	OMIM:613313
Hypobetalipoproteinemia, Familial, 1	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:615558
Familial Hemophagocytic Lymphohistiocytosis	Hemophagocytosis, Erythroderma, Neutropenia, Hepatomegaly, Reduced natural killer cell activity, ...	ORPHA:540
Autoimmune Lymphoproliferative Syndrome, Type Iia	Follicular hyperplasia, Increased circulating IgA level, Hepatomegaly, Nephrotic syndrome, Autoim...	OMIM:603909
Systemic Lupus Erythematosus	Nephritis, Leukopenia, Malar rash, Cutaneous photosensitivity, Lupus nephritis, Thrombocytopenia,...	OMIM:152700
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Abnormality of the liver, Subcutaneous hemorrhage, Thrombocytopenia	ORPHA:1980
Lysinuric Protein Intolerance	Hemophagocytosis, Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperglycinemia, I...	ORPHA:470
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly, Death in infancy	ORPHA:139406
Familial Pseudohyperkalemia	Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia	ORPHA:90044
Wilson Disease	Elevated circulating hepatic transaminase concentration, Hepatitis, Bruising susceptibility, Acut...	ORPHA:905
Relapsing Fever	Acute kidney injury, Abnormality of the urinary system, Elevated circulating hepatic transaminase...	ORPHA:91547
Cholestasis-Lymphedema Syndrome	Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,...	ORPHA:1414
8P11.2 Deletion Syndrome	Splenomegaly, Mitral valve prolapse, Spherocytosis, Atrial septal defect, Hypoplasia of penis, He...	ORPHA:251066
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Nephropathy, Giant cell hepatitis, Elevated gamma-glutamyltransferase level, Ventricular septal d...	OMIM:208085
Cholestasis, Progressive Familial Intrahepatic, 11	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619874
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:235555
Anemia, Sideroblastic, 1	Sideroblastic anemia, Hypochromic microcytic anemia, Anemia of inadequate production, Macrocytic ...	OMIM:300751
Crigler-Najjar Syndrome, Type Ii	Reduced tissue UDP-glucuronyl-transferase activity, Jaundice, Elevated circulating hepatic transa...	OMIM:606785
Cystic Echinococcosis	Cholestatic liver disease, Peritoneal abscess, Elevated gamma-glutamyltransferase level, Elevated...	ORPHA:400
Wolman Disease	Reduced lysosomal acid lipase activity, Acute hepatic failure, Splenomegaly, Death in infancy, He...	OMIM:620151
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro...	OMIM:619041
Griscelli Syndrome Type 2	Hemophagocytosis, Premature graying of hair, Pancytopenia, Splenomegaly, Petechiae, Lymphadenopat...	ORPHA:79477
Hypereosinophilic Syndrome, Idiopathic	Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly, Eosinophilia, Hepatomegaly, Myelo...	OMIM:607685
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly, Hypertrophic cardiomyopathy	ORPHA:79281
Glycogen Storage Disease Due To Aldolase A Deficiency	Acute kidney injury, Reduced circulating aldolase concentration, Decreased muscle mass, Muscle fi...	ORPHA:57
Anemia, Autoimmune Hemolytic	Autoimmune hemolytic anemia	OMIM:205700
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne...	OMIM:263200
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Thrombocytopenia	ORPHA:3319
Renal-Hepatic-Pancreatic Dysplasia 1	Aortic valve stenosis, Cholestasis, Cirrhosis, Atrial septal defect, Hepatomegaly, Polycystic kid...	OMIM:208540
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circula...	OMIM:613812
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Hepatomegaly, Reduced natural killer cell act...	OMIM:603553
Cholangiocarcinoma	Biliary tract neoplasm, Jaundice, Acholic stools	ORPHA:70567
Cog7-Cdg	Elevated circulating hepatic transaminase concentration, Abnormal heart morphology, Hepatosplenom...	ORPHA:79333
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Increased mean corpuscular volume, Increased circulating lactate dehydrogenase concentration, Pan...	OMIM:613839
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Reduced circulating pyrimidine 5-prime-nucleotidase activity	OMIM:266120
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ...	OMIM:267700
Aicardi-Goutieres Syndrome 9	Thickened glomerular basement membrane, Lateral ventricle dilatation, Hepatosplenomegaly, Hepatic...	OMIM:619487
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Elevated circulating acylcarnitine concentration, Red-brown urine, Muscle fiber atrophy, Stage 5 ...	ORPHA:228302
Congenital Rubella Syndrome	Splenomegaly, Ventricular septal defect, Anemia, Atrial septal defect, Thrombocytopenia, Hepatome...	ORPHA:290
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Lipodystrophy, Partial, Acquired, Susceptibility To	Loss of subcutaneous adipose tissue from upper limbs, Abnormal circulating lipid concentration, L...	OMIM:608709
Edinburgh Malformation Syndrome	Jaundice, Death in infancy	OMIM:129850
Congenital Megacalycosis	Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R...	ORPHA:93109
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transami...	OMIM:614480
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Hematuria, Increased circulating IgA level, Glomerulonephritis, Thrombocytopenia	OMIM:314000
Severe Generalized Junctional Epidermolysis Bullosa	Multicystic kidney dysplasia, Ureterocele, Urethral stricture, Fragile skin, Duplicated collectin...	ORPHA:79404
Congenital Atransferrinemia	Anemia, Abnormality of the pancreas	ORPHA:1195
Aa Amyloidosis	Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Cholestasis, Abnorma...	ORPHA:85445
Immunodeficiency 69	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A...	OMIM:618963
Dubin-Johnson Syndrome	Jaundice, Biliary tract abnormality	OMIM:237500
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Hyperechogenic kidn...	OMIM:616217
Hemochromatosis, Neonatal	Hepatic fibrosis, Hepatic failure, Hepatocellular necrosis, Cholestasis, Cirrhosis, Prolonged neo...	OMIM:231100
Tyrosinemia Type 1	Generalized aminoaciduria, Acute hepatic failure, Splenomegaly, Hepatomegaly, Hepatocellular carc...	ORPHA:882
Hepatitis Delta	Hepatic failure, Hepatitis, Bruising susceptibility, Elevated circulating aspartate aminotransfer...	ORPHA:402823
Idiopathic Pulmonary Hemosiderosis	Hepatosplenomegaly, Cardiomegaly, Iron deficiency anemia, Glomerulonephritis, Hepatomegaly	ORPHA:99931
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:607765
Congenital Bile Acid Synthesis Defect Type 3	Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa...	ORPHA:79302
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice	ORPHA:59303
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypertrophic cardiomyopathy, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septa...	OMIM:620135
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Bruising susceptibility, Splenomegaly, Petechiae, Ecchymosis, Thrombocytopenia, H...	OMIM:153670
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C...	ORPHA:37042
Triosephosphate Isomerase Deficiency	Normocytic anemia, Cholelithiasis, Cholecystitis, Splenomegaly, Macrocytic anemia, Death in infan...	OMIM:615512
Autoimmune Hepatitis	Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Spi...	ORPHA:2137
Beta-Thalassemia	Cholelithiasis, Hepatitis, Microcytic anemia, Hypertrophic cardiomyopathy, Splenomegaly, Abnormal...	ORPHA:848
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612925
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Hepatic Veno-Occlusive Disease	Ascites, Hepatomegaly, Jaundice, Elevated circulating hepatic transaminase concentration	ORPHA:890
Choreoacanthocytosis	Acanthocytosis	OMIM:200150
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ...	OMIM:618641
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Splenomegaly, Anemia, Decreased acid sphingomyelinase activity, Thrombocy...	OMIM:607616
Osteopetrosis, Autosomal Recessive 5	Hepatic failure, Stillbirth, Extramedullary hematopoiesis, Ascites, Hepatosplenomegaly, Pancytope...	OMIM:259720
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612926
Intrinsic Factor Deficiency	Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Inc...	OMIM:261000
Diamond-Blackfan Anemia 20	Erythroid hypoplasia, Anemia	OMIM:618313
Tubulointerstitial Nephritis And Uveitis Syndrome	Increased circulating antibody level, Scleritis, Elevated circulating C-reactive protein concentr...	ORPHA:91500
Eosinophilia, Familial	Leukocytosis, Eosinophilia, Thrombocytopenia, Myocardial eosinophilic infiltration, Anemia	OMIM:131400
Retinitis Pigmentosa And Erythrocytic Microcytosis	Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thrombocytopenia, ...	OMIM:616959
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Bruising susceptibility, Microcytic anemia, Splenomegaly, Neutrop...	ORPHA:231401
Senior-Boichis Syndrome	Chronic kidney disease, Abnormal urinary electrolyte concentration, Cholestasis, Hepatosplenomega...	ORPHA:84081
Prolidase Deficiency	Recurrent pneumonia, Eczematoid dermatitis, Elevated circulating aspartate aminotransferase conce...	OMIM:170100
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Generalized aminoaciduria, Depletion of mitochondrial DNA in liver, Periportal f...	OMIM:251880
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive...	ORPHA:3261
Bile Acid Conjugation Defect 1	Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Elevated circulat...	OMIM:619232
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Elevated gamma-glutamyltransferase level, Stomatocytosis, Splenomegaly, Hepatomegaly, Jaundice, H...	OMIM:608885
Evans Syndrome	Bruising susceptibility, Autoimmune hemolytic anemia, Petechiae, Neutropenia in presence of anti-...	ORPHA:1959
Paternal Uniparental Disomy Of Chromosome 1	Abnormal dental enamel morphology, Proteinuria, Episodic hemolytic anemia, Increased blood urea n...	ORPHA:251004
Hepatitis, Fulminant Viral, Susceptibility To	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Jaundice,...	OMIM:618549
Neonatal Alloimmune Neutropenia	Jaundice, Neutropenia in presence of anti-neutropil antibodies, Miscarriage	ORPHA:464370
Diamond-Blackfan Anemia 9	Anemia	OMIM:613308
Pearson Syndrome	Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Hepatomegaly, Hypoplastic spleen,...	ORPHA:699
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612924
Protoporphyria, Erythropoietic, 2	Iron deficiency anemia	OMIM:618015
Thrombocytopenia 5	Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,...	OMIM:616216
Classic Galactosemia	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Ascites, ...	ORPHA:79239
Paroxysmal Nocturnal Hemoglobinuria	Chronic kidney disease, Pancytopenia, Reduced haptoglobin level, Hemosiderinuria, Jaundice, Uncon...	ORPHA:447
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Ascites, Elevated circulating aspartate aminotransferase concentration, M...	OMIM:257200
Rothmund-Thomson Syndrome, Type 3	Anemia, Death in infancy, Anisopoikilocytosis	OMIM:615789
X-Linked Sideroblastic Anemia	Elevated circulating hepatic transaminase concentration, Glucose intolerance, Splenomegaly, Anemi...	ORPHA:75563
Hemochromatosis, Type 4	Impotence, Cardiomyopathy, Increased circulating ferritin concentration, Glucose intolerance, Hep...	OMIM:606069
Thrombocythemia 1	Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce...	OMIM:187950
Idiopathic Non-Lupus Full-House Nephropathy	Acute kidney injury, Abnormal glomerular mesangium morphology, Elevated circulating creatinine co...	ORPHA:567544
Rotor Syndrome	Bilirubinuria, Hyperbilirubinemia, Abnormal circulating enzyme concentration or activity, Intermi...	ORPHA:3111
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Death in childhood, Autoimmune hemolytic anemia, Lymphadenopathy, Neutr...	OMIM:619220
Crigler-Najjar Syndrome, Type I	Jaundice, Elevated circulating hepatic transaminase concentration	OMIM:218800
Osteopetrosis, Autosomal Recessive 2	Mandibular osteomyelitis, Facial paralysis, Extramedullary hematopoiesis, Osteomyelitis, Hepatosp...	OMIM:259710
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Diamond-Blackfan Anemia 12	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Ventricular septal defect, Ret...	OMIM:615550
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Recurrent pneumonia, Recurrent tonsillitis, Lymphadenitis, Eczematoid dermati...	OMIM:618935
Galactosemia Ii	Prolonged neonatal jaundice	OMIM:230200
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Howell-Jolly bodies, Organic aciduria, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyper...	OMIM:301310
Ovalocytosis, Southeast Asian	Hemolytic anemia, Elliptocytosis	OMIM:166900
Immunodeficiency With Hyper-Igm, Type 1	Enteroviral encephalitis, Increased circulating IgA level, Cirrhosis, Neutropenia, Hepatomegaly, ...	OMIM:308230
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn...	OMIM:613092
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Wilson Disease	Hypouricemia, Acute hepatic failure, Hyperbilirubinemia, Limb muscle weakness, Hepatic steatosis,...	OMIM:277900
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Congenital Syphilis	Pneumonia, Keratitis, Extramedullary hematopoiesis, Hypoglycemia, Hepatosplenomegaly, Petechiae, ...	ORPHA:499009
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Elevated gamma-glutamyltransferase level, Elevated cir...	OMIM:619463
Cholestasis, Progressive Familial Intrahepatic, 1	Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom...	OMIM:211600
Combined Saposin Deficiency	Hepatomegaly, Splenomegaly, Death in infancy	OMIM:611721
Neonatal Hemochromatosis	Increased circulating iron concentration, Hypoglycemia, Increased circulating ferritin concentrat...	ORPHA:446
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Petechiae, Splenomegaly, Anemia, Vasculitis in the skin, Hepatomegaly, Purpura	OMIM:620296
Griscelli Syndrome	Bone marrow hypocellularity, Hepatitis, Abnormal circulating lipid concentration, Premature grayi...	ORPHA:381
Budd-Chiari Syndrome	Elevated circulating hepatic transaminase concentration, Ascites, Acute hepatic failure, Portal h...	ORPHA:131
Pediatric Hepatocellular Carcinoma	Portal vein thrombosis, Hepatic fibrosis, Hepatic necrosis, Hepatomegaly	ORPHA:33402
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly	OMIM:610539
Nephronophthisis 3	Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinu...	OMIM:604387
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Elevated gamma-glu...	ORPHA:53035
Hypermanganesemia With Dystonia 1	Elevated circulating hepatic transaminase concentration, Polycythemia, Decreased liver function, ...	OMIM:613280
Abetalipoproteinemia	Hypoalbuminemia, Hepatic fibrosis, Hypotriglyceridemia, Elevated circulating hepatic transaminase...	ORPHA:14
Pernicious Anemia	Megaloblastic anemia	OMIM:170900
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl...	ORPHA:2585
Brucellosis	Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Hepatome...	ORPHA:1304
Crigler-Najjar Syndrome Type 1	Prolonged neonatal jaundice, Abnormality of the liver, Biliary tract abnormality	ORPHA:79234
Fetal Parvovirus Syndrome	Ascites, Anemia, Hypertrophic cardiomyopathy, Thrombocytopenia	ORPHA:295
Biliary Atresia, Extrahepatic	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Atretic gallbladder, Ci...	OMIM:210500
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Minimal change glomerulonephritis, Poor wound healing, Hepatitis, Eczematoid dermatitis, Increase...	OMIM:620565
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Acute hepatic failure, Hepat...	OMIM:278000
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hepatomegaly, Fetal ascites, Splenomegaly	OMIM:619462
Mucopolysaccharidosis-Plus Syndrome	Focal segmental glomerulosclerosis, Bone marrow hypocellularity, Nephritis, Hypertrophic cardiomy...	OMIM:617303
Letterer-Siwe Disease	Hepatosplenomegaly, Neutropenia, Thrombocytopenia, Anemia, Jaundice	OMIM:246400
Immunodeficiency 104	Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy	OMIM:608971
Pearson Marrow-Pancreas Syndrome	Erythema, Sideroblastic anemia, Pancytopenia, Hyperbilirubinemia, Death in childhood, Neutropenia...	OMIM:557000
Congenital Erythropoietic Porphyria	Reduced haptoglobin level, Scleritis, Keratoconjunctivitis, Increased connective tissue, Fragile ...	ORPHA:79277
Hemochromatosis, Type 3	Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration...	OMIM:604250
Bacterial Toxic-Shock Syndrome	Cellulitis, Glomerulonephritis, Recurrent skin infections, Elevated circulating creatinine concen...	ORPHA:36234
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Homocystinuria, Methylmalonic aciduria, Decreased methionine synthase activity, Hypomethioninemia...	OMIM:250940
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Abnormal natural killer cell physiology, Lymp...	OMIM:613101
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume	OMIM:620044
Immunodeficiency 115 With Autoinflammation	Hypoalbuminemia, Decreased circulating IgG level, Skeletal muscle atrophy, Eczematoid dermatitis,...	OMIM:620632
Jaundice, Familial Obstructive, Of Infancy	Jaundice	OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii	Jaundice	OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal	Jaundice	OMIM:237900
Schimke Immuno-Osseous Dysplasia	Nephropathy, Bone marrow hypocellularity, Minimal change glomerulonephritis, Focal segmental glom...	ORPHA:1830
Amyloidosis, Hereditary Systemic 2	Nephropathy, Renal amyloidosis, Cholestasis, Splenomegaly, Proteinuria, Hematuria, Hepatomegaly, ...	OMIM:105200
Lcat Deficiency	Acute kidney injury, Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal ...	ORPHA:650
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Anemia, Splenomegaly, Thrombocytopenia	OMIM:615085
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertension, Splen...	OMIM:617068
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Megaloblastic anemia	OMIM:243320
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Cellulitis, Decreased proportion of CD4+CD25+ regulatory T cells, Type I diabetes mellitus, Decre...	OMIM:606367
Coach Syndrome 3	Portal fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Renal int...	OMIM:619113
Hyperbilirubinemia, Rotor Type	Jaundice	OMIM:237450
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Anemia, Renal insufficiency	ORPHA:28
Lambert Syndrome	Jaundice, Intrahepatic biliary atresia	OMIM:245550
Wolfram Syndrome, Mitochondrial Form	Hydroureter, Sideroblastic anemia, Hydronephrosis, Megaloblastic anemia, Neutropenia, Thrombocyto...	OMIM:598500
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly, Pericarditis	ORPHA:163596
C3 Glomerulopathy	Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Paraprot...	ORPHA:329918
Gilbert Syndrome	Jaundice, Hepatic failure, Elevated circulating hepatic transaminase concentration	OMIM:143500
Tyrosinemia, Type I	Hepatic failure, Elevated circulating hepatic transaminase concentration, Nephrocalcinosis, Eleva...	OMIM:276700
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:66661
Acute Erythroid Leukemia	Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, E...	ORPHA:318
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per...	ORPHA:139507
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ...	OMIM:616452
Kaposiform Lymphangiomatosis	Hepatosplenomegaly, Splenomegaly, Lymphangioma, Abnormality of the lymphatic system, Abnormal lym...	ORPHA:464329
Cockayne Syndrome Type 1	Male hypogonadism, Elevated circulating hepatic transaminase concentration, Foot joint contractur...	ORPHA:90321
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Lymphopenia, Skin rash, Thrombocytopenia, Colitis, Hemolytic anemia, Anterior uveitis	OMIM:616744
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Lipid accumulation in hepatocytes, Agenesis of corpus callosum, Elevated circulating alanine amin...	OMIM:608836
Hydrops Fetalis, Nonimmune	Anemia	OMIM:236750
Caroli Syndrome	Hypersplenism, Hyperbilirubinemia, Congenital hepatic fibrosis, Elevated circulating alkaline pho...	ORPHA:480520
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Elevated circulating hepatic transaminase concentration, ...	ORPHA:79124
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anemia, Thrombocytopenia, Neutropenia, Monocytosis	OMIM:620534
Pediatric Systemic Lupus Erythematosus	Discoid lupus rash, Nephritis, Abnormality of the urinary system, Increased circulating lactate d...	ORPHA:93552
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatic bridging fibrosis, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Cholestasi...	OMIM:619662
Mixed Connective Tissue Disease	Nephropathy, Mediastinal lymphadenopathy, Leukopenia, Splenomegaly, Skin rash, Myositis, Hepatome...	ORPHA:809
Isolated Growth Hormone Deficiency, Type Ia	Prolonged neonatal jaundice	OMIM:262400
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Nephropathy, Aminoaciduria, Nephrocalcinosis, Giant cell hepatitis, Arthrogryposis multiplex cong...	OMIM:613404
Hydroxykynureninuria	Jaundice	OMIM:236800
Combined Immunodeficiency Due To Crac Channel Dysfunction	Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic anemia	ORPHA:169090
Dopamine Beta-Hydroxylase Deficiency	Insulin resistance, Elevated urinary dopamine level, Hypoglycemia, Elevated circulating creatinin...	ORPHA:230
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane...	OMIM:300946
Erythrocytosis, Familial, 1	Increased hematocrit, Splenomegaly, Increased red blood cell mass, Plethora, Increased circulatin...	OMIM:133100
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Ascites, Abnormality of the ureter, Splenomegaly, Renal hypoplasia/aplasia, Anemia, Hypoplasia of...	ORPHA:1046
Cholestasis, Benign Recurrent Intrahepatic, 2	Intrahepatic cholestasis, Cholelithiasis, Elevated circulating alkaline phosphatase concentration...	OMIM:605479
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Splenomegaly, Aminoaciduria	ORPHA:417
Primary Membranoproliferative Glomerulonephritis	Chronic kidney disease, Hypoalbuminemia, Acute kidney injury, Stage 5 chronic kidney disease, Ren...	ORPHA:54370
Indolent Systemic Mastocytosis	Mastocytosis, Elevated total serum tryptase, Generalized abnormality of skin, Urticaria, Increase...	ORPHA:98848
Shigellosis	Microangiopathic hemolytic anemia, Urethritis, Cholestasis, Rhabdomyolysis, Abnormal blood ion co...	ORPHA:810
Graft Versus Host Disease	Inflammatory abnormality of the skin, Hemophagocytosis, Hepatosplenomegaly, Hyperbilirubinemia, E...	ORPHA:39812
Hemangioma-Thrombocytopenia Syndrome	Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:141000
Aicardi-Goutieres Syndrome 4	Elevated circulating hepatic transaminase concentration, Pancytopenia, Hepatosplenomegaly, Spleno...	OMIM:610333
Thymoma	Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Myositis, Glomerulonephri...	ORPHA:99867
Legionnaires Disease	Cellulitis, Bone marrow hypocellularity, Hepatitis, Lymphopenia, Renal insufficiency, Splenomegal...	ORPHA:549
Autoimmune Hemolytic Anemia, Warm Type	Chronic lymphatic leukemia, Jaundice, Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90033
Infantile Liver Failure Syndrome 1	Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Hepatic steatosis...	OMIM:615438
Transaldolase Deficiency	Biventricular hypertrophy, Hepatosplenomegaly, Cirrhosis, Atrial septal defect, Thrombocytopenia,...	ORPHA:101028
Pseudo-Torch Syndrome 3	Acute kidney injury, Lymphadenitis, Increased circulating ferritin concentration, Leukocytosis, D...	OMIM:618886
Gray Platelet Syndrome	Bruising susceptibility, Splenomegaly, Thrombocytopenia	ORPHA:721
C3 Glomerulopathy 3	Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes...	OMIM:614809
Isolated Polycystic Liver Disease	Increased total bilirubin, Multiple renal cysts, Hepatomegaly, Polycystic liver disease, Abnormal...	ORPHA:2924
Renal Dysplasia	Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure...	ORPHA:93108
Diamond-Blackfan Anemia 8	Neutropenia, Increased mean corpuscular volume, Macrocytic anemia	OMIM:612563
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Thrombocytopenia, Anemia, Macrothrombocytopenia	OMIM:187800
Maternal Uniparental Disomy Of Chromosome 4	Neurogenic bladder, Abnormal erythrocyte morphology, Acanthocytosis	ORPHA:96180
Diffuse Neonatal Hemangiomatosis	Ascites, Renal insufficiency, Renal hypoplasia/aplasia, Anemia, Thrombocytopenia, Hepatomegaly	ORPHA:2123
Familial Atrial Myxoma	Pulmonic valve myxoma, Bacterial endocarditis, Cholestasis, Ascites, Cardiomegaly, Cardiac myxoma...	ORPHA:615
3-Hydroxy-3-Methylglutaric Aciduria	3-Methylglutaric aciduria, Dilated cardiomyopathy, Ketonuria, Elevated circulating hepatic transa...	ORPHA:20
Castleman Disease	Mediastinal lymphadenopathy, Restrictive cardiomyopathy, Ureteral obstruction, Renal insufficienc...	ORPHA:160
Nephronophthisis 2	Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Situs inversus totalis,...	OMIM:602088
Pseudo-Torch Syndrome 1	Elevated circulating hepatic transaminase concentration, Decreased liver function, Umbilical hern...	OMIM:251290
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Anemia, Splenomegaly	OMIM:618107
Anemia, Congenital Dyserythropoietic, Type Iiia	Increased circulating lactate dehydrogenase concentration, Macrocytic anemia, Anemia of inadequat...	OMIM:105600
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hemolytic anemia	OMIM:609153
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Lymphopenia, Increased circulating antibody level, Jaundic...	ORPHA:99826
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Hypouricemia, Renal, 1	Hypouricemia, Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Elevated circulati...	OMIM:220150
Liver Failure, Infantile, Transient	Hypoalbuminemia, Decreased circulating IgG level, Elevated circulating hepatic transaminase conce...	OMIM:613070
Gallbladder Disease 1	Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal...	OMIM:600803
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Cardiomyopathy, Renal insufficiency, Splenomegaly, Hyperammonemia, Hepatomegaly, Pancreatitis, Th...	ORPHA:79312
Drug-Induced Autoimmune Hemolytic Anemia	Abnormal urinary color, Increased total bilirubin, Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90037
Immunodeficiency 48	Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation...	OMIM:269840
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal blood inorganic cation concentration, Elevated circulating hepatic transaminase concentr...	ORPHA:309854
Autoinflammatory Disease, Systemic, With Vasculitis	Erythema, Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Abnormal cir...	OMIM:620376
Fumarase Deficiency	Aminoaciduria, Elevated urine fumaric acid level, Intrahepatic cholestasis, Hepatic failure, Poly...	OMIM:606812
Alveolar Echinococcosis	Biliary cirrhosis, Cutaneous abscess, Decreased liver function, Abnormal pericardium morphology, ...	ORPHA:284
Diamond-Blackfan Anemia 4	Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Atrial septal defect, Neutropenia	OMIM:612527
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ...	OMIM:202700
Pgm3-Cdg	Allergic rhinitis, Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Esophagi...	ORPHA:443811
Immunodeficiency 47	Hepatic bridging fibrosis, Decreased circulating total IgG, Chronic decreased circulating total I...	OMIM:300972
Glucagonoma	Intrahepatic cholestasis, Abnormal abdomen morphology, Ascites, Acanthocytosis, Neoplasm of the p...	ORPHA:97280
Benign Recurrent Intrahepatic Cholestasis	Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio...	ORPHA:65682
Schnitzler Syndrome	Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly, Urticaria	ORPHA:37748
Congenital Disorder Of Glycosylation, Type Iiw	Elevated gamma-glutamyltransferase level, Microcytic anemia, Recurrent otitis media, Hepatic stea...	OMIM:619525
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc...	ORPHA:567983
Kasabach-Merritt Phenomenon	Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Petechiae, Abnormal lymphatic ves...	ORPHA:2330
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Hyperbilirubinemia, Ventricu...	OMIM:301068
Bleeding Disorder, Platelet-Type, 19	Anemia, Macrothrombocytopenia, Thrombocytopenia	OMIM:616176
Arthrogryposis Multiplex Congenita 5	Normocytic anemia, Medullary nephrocalcinosis, Acanthocytosis, Poikilocytosis	OMIM:618947
Crigler-Najjar Syndrome Type 2	Prolonged neonatal jaundice	ORPHA:79235
Bone Marrow Failure Syndrome 2	Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia	OMIM:615715
Refractory Anemia	Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Erythroid hypoplasia, Neut...	ORPHA:98826
Immunodeficiency 23	Allergic rhinitis, Erythema, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Increased ...	OMIM:615816
Lambert Syndrome	Cholestasis, Jaundice, Intrahepatic biliary atresia, Ventricular septal defect	ORPHA:1296
Interstitial Nephritis, Karyomegalic	Nephronophthisis, Elevated circulating hepatic transaminase concentration, Renal tubular cyst, Gl...	OMIM:614817
Isolated Biliary Atresia	Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans...	ORPHA:30391
Immunodeficiency 27A	Hypoalbuminemia, Pneumonia, Enlarged mesenteric lymph node, Hepatosplenomegaly, Leukocytosis, Spl...	OMIM:209950
Liver Disease, Severe Congenital	Portal inflammation, Recurrent otitis media, Dilatation of the ventricular cavity, Hyperbilirubin...	OMIM:619991
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Cardiomyopathy	OMIM:609016
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, D...	OMIM:615513
Autoinflammation, Immune Dysregulation, And Eosinophilia	Atopic dermatitis, Hepatosplenomegaly, Hepatic cysts, Colonic eosinophilia, Eosinophilia, Membran...	OMIM:618999
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice	OMIM:243300
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Recurrent urinary tract infections, Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic a...	OMIM:618495
Immunodeficiency 42	Hepatomegaly, Hypoplasia of the thymus, Splenomegaly	OMIM:616622
Complement Component 3 Deficiency, Autosomal Recessive	Recurrent pneumonia, Recurrent tonsillitis, Renal insufficiency, Membranoproliferative glomerulon...	OMIM:613779
Focal Segmental Glomerulosclerosis 1	Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Ascites, Stage 5 chronic kidney disea...	OMIM:603278
Porphyria, Congenital Erythropoietic	Joint contracture of the hand, Cholelithiasis, Atypical scarring of skin, Conjunctivitis, Elevate...	OMIM:263700
Sepsis In Premature Infants	Oliguria, Decreased liver function, Leukocytosis, Splenomegaly, Reversible renal failure, Petechi...	ORPHA:90051
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Dilated cardiomyopathy	OMIM:604765
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hepatic necrosis, Fulminant hepatic failure,...	OMIM:231530
Congenital Disorder Of Glycosylation, Type Iik	Elevated circulating aspartate aminotransferase concentration, Elevated circulating creatine kina...	OMIM:614727
Aicardi-Goutieres Syndrome 7	Pancytopenia, Hepatic steatosis, Chilblains, Increased circulating antibody level, Hepatomegaly, ...	OMIM:615846
Trichohepatoenteric Syndrome 1	Cholestasis, Ventricular septal defect, Cirrhosis, Hepatomegaly, Jaundice, Hypospadias, Galactosu...	OMIM:222470
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Depletion of mitochondrial DNA in liver, Cholestasis, Elevated circulating aspartate aminotransfe...	OMIM:618528
Dyskeratosis Congenita, Autosomal Dominant 1	Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Premature grayin...	OMIM:127550
Autosomal Dominant Polycystic Kidney Disease	Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec...	ORPHA:730
Hypercholanemia, Familial, 2	Prolonged neonatal jaundice	OMIM:619256
Immunodeficiency 84	Splenomegaly, B lymphocytopenia	OMIM:619437
Niemann-Pick Disease, Type C2	Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Death in childhood, Death in infancy, Hepato...	OMIM:607625
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho...	OMIM:607626
Lymphoproliferative Syndrome, X-Linked, 2	Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hemophagocytosis, Hepatitis, ...	OMIM:300635
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Hepatocellular necrosis, Hypertrophic cardiomyopathy, Hepatic steatosis, Dea...	OMIM:201475
Hereditary Cryohydrocytosis With Reduced Stomatin	Spontaneous hemolytic crises, Stomatocytosis, Hepatosplenomegaly, Jaundice, Conjugated hyperbilir...	ORPHA:168577
Nephrotic Syndrome, Type 23	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti...	OMIM:619201
Splenoportal Vascular Anomalies	Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system	OMIM:271500
Formiminoglutamic Aciduria	Anemia, Abnormal concentration of acylcarnitine in the urine, Megaloblastic anemia, Atrial septal...	ORPHA:51208
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Polysplenia, Hypoglycemia, Exocrine pancreatic insuf...	OMIM:619418
Fetal Gaucher Disease	Abnormality of the spleen, Pancytopenia, Splenomegaly, Death in infancy, Neonatal death, Thromboc...	ORPHA:85212
Bone Marrow Failure Syndrome 6	Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia	OMIM:618849
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Renal hypoplasia, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ...	OMIM:614376
Igg4-Related Kidney Disease	Chronic kidney disease, Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Increased...	ORPHA:449395
Congenital Pancreatic Cyst	Jaundice, Pancreatitis	ORPHA:313906
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level...	OMIM:618534
Immunodeficiency 87 And Autoimmunity	Elevated gamma-glutamyltransferase level, Biventricular hypertrophy, Lymphopenia, Decreased CD4:C...	OMIM:619573
Fanconi-Bickel Syndrome	Hypouricemia, Elevated gamma-glutamyltransferase level, Hyperbilirubinemia, Reduced subcutaneous ...	OMIM:227810
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion...	OMIM:613011
Meckel Syndrome, Type 8	Pericardial effusion, Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys	OMIM:613885
Johanson-Blizzard Syndrome	Exocrine pancreatic insufficiency, Death in infancy, Hydronephrosis, Dextrocardia, Abnormal cardi...	ORPHA:2315
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Loss of subcutaneous adipose tissue from upper limbs, Loss of facial adipose tissue, Proteinuria,...	OMIM:613913
Immunodeficiency 76	Lymphopenia, Splenomegaly, Death in childhood, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia	OMIM:619164
Leishmaniasis	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Pancytopenia, Leukopeni...	ORPHA:507
Wiskott-Aldrich Syndrome	Nephropathy, Abnormal eosinophil morphology, Acute leukemia, Inflammation of the large intestine,...	ORPHA:906
Wolman Disease	Hepatic failure, Ascites, Splenomegaly, Anemia, Hepatomegaly, Bone-marrow foam cells	ORPHA:75233
Chédiak-Higashi Syndrome	Periodontitis, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Jaundice, Hypopro...	ORPHA:167
Dubin-Johnson Syndrome	Hepatomegaly, Jaundice, Abnormality of the liver, Biliary tract abnormality	ORPHA:234
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Anemia	OMIM:618838
Hemochromatosis, Type 1	Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration...	OMIM:235200
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Abnormal penis morphology, Moderate albuminuria, Acute kidney injury, Inflammatory abnormality of...	ORPHA:95455
Chediak-Higashi Syndrome	Periodontitis, Hemophagocytosis, Bruising susceptibility, Leukopenia, Giant neutrophil granules, ...	OMIM:214500
Wolfram Syndrome 1	Hydroureter, Cardiomyopathy, Sideroblastic anemia, Hydronephrosis, Neurogenic bladder, Megaloblas...	OMIM:222300
Nephrotic Syndrome, Type 10	Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Podo...	OMIM:615861
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Renal insufficiency, Hyperammonemia, Renal tubular dysfunction, Hepatomegaly, Pancreatitis, Throm...	ORPHA:289916
Osteopetrosis With Renal Tubular Acidosis	Proximal renal tubular acidosis, Bone marrow hypocellularity, Pancytopenia, Leukopenia, Distal re...	ORPHA:2785
Osteopetrosis, Autosomal Recessive 3	Anemia, Hepatosplenomegaly, Distal renal tubular acidosis, Extramedullary hematopoiesis	OMIM:259730
Cholestasis, Intrahepatic, Of Pregnancy, 1	Abnormal liver function tests during pregnancy, Intrahepatic cholestasis, Jaundice, Elevated circ...	OMIM:147480
Sandhoff Disease	Hepatomegaly, Splenomegaly	ORPHA:796
Glycogen Storage Disease Ib	Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Decr...	OMIM:232220
Vitamin B12-Unresponsive Methylmalonic Acidemia	Cardiomyopathy, Leukopenia, Renal insufficiency, Hyperammonemia, Macrocytic anemia, Hepatomegaly,...	ORPHA:27
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Chronic kidney disease, Abnormal circulating selenium concentration, IgA deposition in the glomer...	ORPHA:79408
Nephrotic Syndrome, Type 15	Hypoalbuminemia, Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Stage 5...	OMIM:617609
Ethylene Glycol Poisoning	Renal insufficiency, Hypocalcemia, Renal tubular dysfunction, Cyanosis, Hematuria, Gastritis, Dec...	ORPHA:31826
Immunodeficiency 32B	Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, Eosinophilia, Anemia, Mon...	OMIM:226990
Simple Cryoglobulinemia	Cold urticaria, Chronic lymphatic leukemia, Abnormality of the kidney, Nephrotic syndrome, Purpur...	ORPHA:91139
Autoinflammation With Infantile Enterocolitis	Hypoalbuminemia, Reduced natural killer cell count, Increased circulating ferritin concentration,...	OMIM:616050
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Cardiomyopathy, Splenomegaly, Macrocytic anemia, Death in infancy, Hyperprolinemia, Increased ser...	OMIM:619046
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Splenomegaly, Hepatomegaly	OMIM:616719
Myasthenia Gravis	Rheumatoid arthritis, Hepatitis, Glycosuria, Myositis, Hashimoto thyroiditis, Abnormal thymus mor...	ORPHA:589
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Increased total bilirubin, Ascites, Elevated circulating alkaline phosphatase concentration, Rena...	OMIM:174050
Hemorrhagic Fever-Renal Syndrome	Chronic kidney disease, Hyperphosphatemia, Hematuria, Glomerulonephritis, Tubulointerstitial neph...	ORPHA:340
Acute Myelomonocytic Leukemia	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	ORPHA:517
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerulonephritis, Glomerular deposits	ORPHA:69063
Common Variable Immunodeficiency	Elevated circulating hepatic transaminase concentration, Lymphopenia, Abnormality of the liver, S...	ORPHA:1572
Chronic Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice, Hemolytic anemia, Hype...	ORPHA:529808
Acute Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice, Hemolytic anemia, Hype...	ORPHA:529799
Immunodeficiency 7	Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia, Hepat...	OMIM:615387
Hereditary Amyloidosis With Primary Renal Involvement	Nephropathy, Abnormal urinary electrolyte concentration, Abnormal lymph node morphology, Hepatosp...	ORPHA:85450
Triokinase And Fmn Cyclase Deficiency Syndrome	Dilated cardiomyopathy, Microcytic anemia, Hepatic steatosis, Pancreatitis, Elevated circulating ...	OMIM:618805
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Portal fibrosis, Cholestasis, Increased serum bile acid concentration, Proteinu...	OMIM:619377
Senior-Loken Syndrome 4	Anemia, Stage 5 chronic kidney disease, Nephronophthisis, Polyuria	OMIM:606996
Immunodeficiency 114, Folate-Responsive	Decreased circulating IgG level, Atopic dermatitis, Increased circulating ferritin concentration,...	OMIM:620603
Diamond-Blackfan Anemia 5	Leukopenia, Macrocytic anemia, Ventricular septal defect, Erythroid hypoplasia, Reticulocytopenia	OMIM:612528
Asplenia, Isolated Congenital	Howell-Jolly bodies, Asplenia, Thrombocytosis	OMIM:271400
Peroxisome Biogenesis Disorder 6A (Zellweger)	Hepatomegaly, Decreased liver function, Neonatal death	OMIM:614870
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:86893
Systemic Primary Carnitine Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration	ORPHA:158
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Death in infancy, Splenomegaly, Cardiomyopathy	OMIM:608540
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di...	OMIM:254450
Peroxisome Biogenesis Disorder 7A (Zellweger)	Hepatomegaly, Jaundice, Death in infancy	OMIM:614872
Atransferrinemia	Abnormality of the liver, Hypochromic anemia	OMIM:209300
Focal Segmental Glomerulosclerosis 10	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:256020
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619824
Niemann-Pick Disease, Type C1	Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Fatal liver failure in infancy, Prolonged ne...	OMIM:257220
Lipoyltransferase 1 Deficiency	Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased tota...	OMIM:616299
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Hemolytic anemia, Limb muscle weakness, Paroxysmal nocturnal hemoglobinuria, Skeletal muscle atrophy	OMIM:612300
Nephrotic Syndrome, Type 11	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Hypoalbuminemia, Dilated c...	OMIM:616730
Immunodeficiency 109 With Lymphoproliferation	Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Pancytopenia, Co...	OMIM:620282
Peripheral Primitive Neuroectodermal Tumor	Increased circulating lactate dehydrogenase concentration, Lower limb muscle weakness, Pelvic mas...	ORPHA:370348
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Recurrent hypoglycemia, Rhabdomyolysis, Dysmenorrhea, Myoglobinuria, Cirrhosis, Hepatomegaly, Pel...	ORPHA:79240
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Cholestasis, Hepatic steatosis, Dysmenorrhea, Myoglobinuria, Cirrhosis, Hepatomegaly, Irregular m...	ORPHA:264580
Amme Complex	Umbilical hernia, Diastasis recti, Inguinal hernia, Hematuria, Elliptocytosis	OMIM:300194
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Petechiae, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymp...	ORPHA:158029
Peroxisome Biogenesis Disorder 13A (Zellweger)	Intrahepatic cholestasis, Elevated circulating aspartate aminotransferase concentration, Reduced ...	OMIM:614887
Muckle-Wells Syndrome	Nephropathy, Renal amyloidosis, Conjunctivitis, Camptodactyly of finger, Urticaria, Recurrent aph...	ORPHA:575
Hemochromatosis, Type 2A	Increased circulating iron concentration, Dilated cardiomyopathy, Cardiomyopathy, Increased circu...	OMIM:602390
Hellp Syndrome	Acute kidney injury, Elevated circulating hepatic transaminase concentration, Poor wound healing,...	ORPHA:244242
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Lymphopenia, Hepatosplenomegaly, Myopathy, Neutropenia, Hepatomegaly, Otitis media, Inguinal hern...	OMIM:612541
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Death in childhood, Death in infancy, Neonatal death, Cardiomegaly	OMIM:614096
Congenital Disorder Of Glycosylation, Type Iie	Secundum atrial septal defect, Skeletal muscle atrophy, Hypoglycemia, Decreased liver function, E...	OMIM:608779
Lipodystrophy, Congenital Generalized, Type 3	Insulin resistance, Generalized lipodystrophy, Hepatosplenomegaly, Splenomegaly, Hypocalcemia, He...	OMIM:612526
Cholestasis, Intrahepatic, Of Pregnancy 3	Abnormal liver function tests during pregnancy, Intrahepatic cholestasis, Jaundice	OMIM:614972
Heterotaxy, Visceral, 1, X-Linked	Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy...	OMIM:306955
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Renal insufficiency, Abnormal aortic valve morphology, Proteinuria, Glomerulopathy, Elliptocytosi...	ORPHA:86818
Myh9-Related Disease	Nephropathy, Nephritis, Elevated circulating hepatic transaminase concentration, Giant platelets,...	ORPHA:182050
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:615158
Nephronophthisis 9	Nephronophthisis, Stage 5 chronic kidney disease, Polyuria, Anemia, Renal cortical microcysts	OMIM:613824
Symptomatic Form Of Hfe-Related Hemochromatosis	Decreased muscle mass, Hyperglycemia, Cirrhosis, Hepatomegaly, Hypogonadotropic hypogonadism, Chr...	ORPHA:465508
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Elevated gamma-glutamyltransferase l...	OMIM:617093
Mixed-Type Autoimmune Hemolytic Anemia	Skin rash, Increased total bilirubin, Autoimmune hemolytic anemia, Abnormal urinary color	ORPHA:90036
Porphyria Cutanea Tarda	Portal inflammation, Poor wound healing, Hepatic steatosis, Decreased circulating hepcidin concen...	ORPHA:101330
Primary Sjögren Syndrome	Arteritis, Lymphopenia, Cutis marmorata, Chronic hepatitis, Decreased proportion of CD4-positive ...	ORPHA:289390
Neuraminidase Deficiency	Cardiomyopathy, Urinary excretion of sialylated oligosaccharides, Ascites, Increased urinary O-li...	OMIM:256550
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Elevated circulating hepatic transaminase concentration, Arthrogryposis multiplex congenita, Leuk...	OMIM:301056
T-Cell Immunodeficiency With Thymic Aplasia	Pneumonia, Eczematoid dermatitis, Recurrent urinary tract infections, Hypocalcemic tetany, Decrea...	ORPHA:83471
Alpha-1-Antitrypsin Deficiency	Hepatic failure, Hepatitis, Cholestasis, Cirrhosis, Hepatomegaly, Jaundice, Hepatocellular carcinoma	ORPHA:60
Catastrophic Antiphospholipid Syndrome	Microangiopathic hemolytic anemia, Abnormal heart valve morphology, Cutis marmorata, Coombs-posit...	ORPHA:464343
Nephrotic Syndrome, Type 16	Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria	OMIM:617783
Autosomal Recessive Polycystic Kidney Disease	Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun...	ORPHA:731
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia	OMIM:616738
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Neutropenia, Hepatomegaly...	OMIM:308240
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Reduced na...	ORPHA:276
Gaucher Disease, Type Iii	Pancytopenia, Splenomegaly, Decreased beta-glucocerebrosidase level, Thrombocytopenia, Hepatomegaly	OMIM:231000
Peroxisome Biogenesis Disorder 2A (Zellweger)	Aminoaciduria, Joint contracture of the hand, Abnormal heart morphology, Death in childhood, Hypo...	OMIM:214110
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Leukocytosis, Death in childhood, Splenomegaly, Death in infancy, Death in adolescence	OMIM:618042
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Enlarged kidney, Nephroblastoma	OMIM:618272
Propionic Acidemia	Hyperglycinuria, Increased level of hippuric acid in urine, Hypoglycemia, Cardiomyopathy, Eczemat...	OMIM:606054
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities	Duplicated collecting system, Hydronephrosis	OMIM:163850
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperbilirubinemia, Absent gallbladder, Hypocalcemia, Ventricular septal defect, Hydronephrosis, ...	ORPHA:163979
Majeed Syndrome	Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Anemia of inadequate production, De...	OMIM:609628
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal reticulocyte morphology	ORPHA:2522
Immunodeficiency 97 With Autoinflammation	Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ...	OMIM:619802
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Dilated cardiomyopathy, Ketonuria, Methylmalonic aciduria, Hypoglycemia, Elevated circulating pal...	ORPHA:79282
Primary Sclerosing Cholangitis	Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho...	ORPHA:171
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatocellular ...	OMIM:613490
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Hepatic failure, Increased mean corpuscular volume, Pr...	OMIM:620367
Hypermethioninemia Due To Adenosine Kinase Deficiency	Hypermethioninemia, Portal fibrosis, Elevated circulating S-adenosyl-L-homocysteine concentration...	OMIM:614300
Klatskin Tumor	Lymphadenopathy, Cholangiocarcinoma, Hepatomegaly, Jaundice, Extrahepatic cholestasis	ORPHA:99978
Immunodeficiency 10	Decreased circulating IgG level, Recurrent pneumonia, Hypoglycemia, Recurrent urinary tract infec...	OMIM:612783
Paroxysmal Nocturnal Hemoglobinuria 2	Hemolytic anemia	OMIM:615399
Peroxisome Biogenesis Disorder 5A (Zellweger)	Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Elevated circulating a...	OMIM:614866
Oslam Syndrome	Abnormality of neutrophils, Increased mean corpuscular volume	ORPHA:2760
Gamma-Heavy Chain Disease	Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Anemia, Lymphadenopath...	ORPHA:100026
Acrocephalopolydactylous Dysplasia	Hepatic fibrosis, Polysplenia, Ascites, Pancreatic fibrosis, Hepatomegaly, Enlarged kidney, Cysti...	OMIM:200995
Lysosomal Acid Lipase Deficiency	Hepatosplenomegaly, Hypersplenism, Elevated circulating alkaline phosphatase concentration, Fatal...	ORPHA:275761
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated circulating hepatic transaminase concentration, Death in childhood, Death in infancy, Ca...	OMIM:619064
Transaldolase Deficiency	Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Hepatosplenomegaly, Pancytope...	OMIM:606003
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Elevated gamma-glutamyltransferase level, Recurrent urinary tract infections, Elevated circulatin...	OMIM:613095
Tafro Syndrome	Increased circulating lactate dehydrogenase concentration, Ascites, Hepatosplenomegaly, Leukocyto...	ORPHA:457077
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Decreased CD4:CD8 ratio, Decreased proport...	OMIM:300853
Bile Acid Synthesis Defect, Congenital, 4	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:214950
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Micropenis, Neonatal hyperbilirubinemia, Hypogonadism	ORPHA:3363
Congenital Disorder Of Glycosylation, Type Iil	Unilateral renal agenesis, Inflammation of the large intestine, Proximal tubulopathy, Decreased s...	OMIM:614576
Lead Poisoning	Chronic kidney disease, Decreased male libido, Imbalanced hemoglobin synthesis, Decreased HDL cho...	ORPHA:330015
Galloway-Mowat Syndrome 7	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Dilated cardiomyopathy, Ig...	OMIM:618348
Multiple Acyl-Coa Dehydrogenase Deficiency	Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Elevated circulating glutaric...	OMIM:231680
2p15-16.1 microdeletion syndrome	Hydronephrosis, Camptodactyly of finger	DECIPHER:70
Transcobalamin Ii Deficiency	Decreased circulating IgG level, Methylmalonic aciduria, Decreased circulating IgA level, Pancyto...	OMIM:275350
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Hepatomegaly, Sideroblastic anemia, Elevated circulating hepatic transaminase concentration, Hype...	OMIM:613561
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Bone marrow hypocellularity, Decreased circulating IgG level, Abnormal heart morphology, Hypertro...	ORPHA:505248
Amegakaryocytic Thrombocytopenia, Congenital, 2	Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia	OMIM:620481
Immunodeficiency 102	Decreased proportion of CD4-positive helper T cells, Hepatomegaly, Recurrent skin infections, Aut...	OMIM:301082
Congenital Disorder Of Glycosylation, Type Ih	Hypoalbuminemia, Decreased liver function, Cholestasis, Elevated circulating creatinine concentra...	OMIM:608104
Idiopathic Steroid-Resistant Nephrotic Syndrome	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Hypoa...	ORPHA:567548
Crome Syndrome	Renal tubular epithelial necrosis	OMIM:218900
Hereditary Chronic Pancreatitis	Abnormal circulating enzyme concentration or activity, Leukocytosis, Pancreatic calcification, Re...	ORPHA:676
Aicardi-Goutieres Syndrome 1	Erythema, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Splenomegaly, ...	OMIM:225750
Dohle Bodies And Leukemia	Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies	OMIM:223350
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Generalized abnormality of skin, Abnormal heart morphology, Hypertrophic cardiomyopathy, Ascites,...	ORPHA:464321
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated circulating hepatic transaminase concentration, Conjunctivitis, Lymphopenia, Splenomegal...	OMIM:617591
O'Donnell-Luria-Rodan Syndrome	Prolonged neonatal jaundice	OMIM:618512
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia, Neonatal death	OMIM:257100
Hepatoerythropoietic Porphyria	Seborrhoeic blepharitis, Red-brown urine, Purple urine, Erythroid hyperplasia, Abnormal circulati...	ORPHA:95159
Galloway-Mowat Syndrome 2, X-Linked	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:301006
Pantothenate Kinase-Associated Neurodegeneration	Acanthocytosis	ORPHA:157850
Glycogen Storage Disease Ixb	Hepatomegaly, Reduced hepatic phosphorylase kinase activity, Splenomegaly, Increased hepatic glyc...	OMIM:261750
3-Methylglutaconic Aciduria Type 4	Hypoglycemia, Cardiomyopathy, Decreased liver function, 3-Methylglutaconic aciduria, Thrombocytop...	ORPHA:67048
Systemic Lupus Erythematosus 16	Lupus nephritis	OMIM:614420
Carnitine Deficiency, Systemic Primary	Decreased circulating carnitine concentration, Cardiomyopathy, Recurrent hypoglycemia, Dicarboxyl...	OMIM:212140
Gaucher Disease Type 1	Hypersplenism, Hepatosplenomegaly, Pancytopenia, Increased circulating antibody level, Hematuria,...	ORPHA:77259
Immunodeficiency, Common Variable, 1	Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu...	OMIM:607594
Immunodeficiency, Common Variable, 7	Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Recurrent urinar...	OMIM:614699
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
C1Q Deficiency 1	Membranoproliferative glomerulonephritis	OMIM:613652
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Fanconi Anemia, Complementation Group G	Leukemia, Anemia, Neutropenia, Thrombocytopenia	OMIM:614082
Macrophage Activation Syndrome	Hypoalbuminemia, Increased circulating lactate dehydrogenase concentration, Hemophagocytosis, Hep...	ORPHA:158061
Lesch-Nyhan Syndrome	Anemia, Hematuria, Renal insufficiency	ORPHA:510
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu...	OMIM:240500
Methylmalonic Aciduria, Cblb Type	Dilated cardiomyopathy, Ketonuria, Methylmalonic aciduria, Hypoglycemia, Elevated circulating pro...	OMIM:251110
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Abnormality of the urinary system, Splenomegaly	ORPHA:2204
Rosaï-Dorfman Disease	Anemia, Dysgammaglobulinemia, Lymphadenopathy	ORPHA:158014
Adult-Onset Still Disease	Erythema, Neutrophilia, Hepatomegaly, Elevated circulating C-reactive protein concentration, Lymp...	ORPHA:829
Carcinoid Syndrome	Hepatic necrosis, Chronic noninfectious lymphadenopathy, Facial telangiectasia, Elevated circulat...	ORPHA:100093
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Pneumonia, Decreased urinary urate, Impaired T cell function, Recurrent urinary tra...	OMIM:613179
Nephronophthisis 4	Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubulointerstitia...	OMIM:606966
Glycogen Storage Disease Vi	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepatic glycogen...	OMIM:232700
Bardet-Biedl Syndrome 19	Hypoplastic left heart, Renal hypoplasia, Hypogonadism, Renal insufficiency, Partial atrioventric...	OMIM:615996
Rift Valley Fever	Elevated circulating hepatic transaminase concentration, Hepatitis, Skin rash, Infectious encepha...	ORPHA:319251
Bile Acid Malabsorption, Primary, 2	Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating aspartate ami...	OMIM:619481
Crigler-Najjar Syndrome	Jaundice, Abnormality of the liver	ORPHA:205
Severe Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Reduced natural killer cell activity, Decreased circulating IgA ...	OMIM:300400
Complement Component 4A Deficiency	Purpura, Cutaneous photosensitivity, Glomerulonephritis	OMIM:614380
Cardiomyopathy, Familial Restrictive, 6	Restrictive cardiomyopathy, Hepatic artery hyperplasia, Ascites, Death in infancy, Portal vein hy...	OMIM:619433
Thyrocerebrorenal Syndrome	Abnormality of the musculature of the limbs, Nephritis, Renal insufficiency, Thrombocytopenia	ORPHA:3327
Caspase 8 Deficiency	Decreased circulating IgG level, Decreased CD4:CD8 ratio, Decreased circulating IgA level, Spleno...	OMIM:607271
Nephrotic Syndrome, Type 6	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Hypoalbuminemia, Stage 5 c...	OMIM:614196
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	OMIM:600649
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Chronic kidney disease, Glomerulonephritis	ORPHA:2172
Orthostatic Hypotension 2	Anemia	OMIM:618182
Felty Syndrome	Cellulitis, Bone marrow hypocellularity, Recurrent pneumonia, Recurrent urinary tract infections,...	ORPHA:47612
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic aciduria, Hypoglycemia, Cardiomyopathy, Leukopenia, Stage 5 chronic kidney disease,...	OMIM:251000
Macdermot-Winter Syndrome	Hydronephrosis, Death in infancy, Camptodactyly of finger	OMIM:247990
Cholestasis, Progressive Familial Intrahepatic, 5	Hepatic failure, Ascites, Elevated circulating aspartate aminotransferase concentration, Death in...	OMIM:617049
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatic failure, Ascites, Pancreatic lymphangiectasis, Hypocalcemia, Splenomegaly, Ventricular se...	OMIM:235255
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Decreased circulating IgG level, Hemophagocytosis, Agranulocytosis, ...	OMIM:301078
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume	ORPHA:494444
Pediatric-Onset Graves Disease	Elevated circulating hepatic transaminase concentration, Keratitis, Episcleritis, Splenomegaly, T...	ORPHA:525731
Pparg-Related Familial Partial Lipodystrophy	Insulin-resistant diabetes mellitus, Prominent veins on trunk, Hepatic steatosis, Myopathy, Dysme...	ORPHA:79083
Proteasome-Associated Autoinflammatory Syndrome 4	Erythema, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly	OMIM:619183
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Inflammation of the large intestine, Psoriasiform dermatitis, Hepatomegaly, Autoimmune thrombocyt...	ORPHA:436159
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Recurrent urinary tract infections, Lymphopenia, Leukopenia, Spl...	OMIM:620210
Lymphoproliferative Syndrome 2	Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymph...	OMIM:615122
Attrv122I Amyloidosis	Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef...	ORPHA:85451
Infection-Related Hemolytic Uremic Syndrome	Pneumonia, Acute kidney injury, Oliguria, Septic arthritis, Anuria, Leukocytosis, Hypocalcemia, H...	ORPHA:544482
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Elevated gamma-glutamyltransferase level, Hepatic failure, Micronodular cirrhosis, Hepatocellular...	OMIM:256810
Nephronophthisis 1	Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal...	OMIM:256100
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Elevated circulating C-reactive protein concentration, Crescentic glomerulonephritis, Mesangial h...	OMIM:616414
Congenital Disorder Of Glycosylation, Type Iig	Giant platelets, Lateral ventricle dilatation, Renal insufficiency, Hydronephrosis, Left ventricu...	OMIM:611209
Reynolds Syndrome	Biliary cirrhosis, Elevated circulating hepatic transaminase concentration, Palmar telangiectasia...	OMIM:613471
Erythrocytosis, Familial, 3	Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass	OMIM:609820
Gaucher Disease Type 2	Hepatomegaly, Splenomegaly	ORPHA:77260
Hereditary Orotic Aciduria	Aminoaciduria, Impaired T cell function, Oroticaciduria, Abnormality of the ureter, Splenomegaly,...	ORPHA:30
Yellow Fever	Acute kidney injury, Anuria, Pancreatic hyperplasia, Elevated circulating creatinine concentratio...	ORPHA:99829
Combined Oxidative Phosphorylation Deficiency 40	Decreased liver function, Hypertrophic cardiomyopathy, Death in infancy, Neonatal death, Anemia	OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42	Cardiomyopathy, Decreased liver function, Death in infancy, Neonatal death, Anemia	OMIM:618839
Idiopathic Aplastic Anemia	Bone marrow hypocellularity, Pancytopenia, Ecchymosis, Reticulocytopenia, Thrombocytopenia, Neutr...	ORPHA:88
Ziegler-Huang Syndrome	Bone marrow hypocellularity, Persistence of hemoglobin F, Hypogonadism, Macrocytic anemia, Neutro...	OMIM:620501
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:541423
Cernunnos-Xlf Deficiency	Lymphopenia, Decreased circulating antibody level, Thrombocytopenia, B lymphocytopenia, Anemia, T...	ORPHA:169079
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly	OMIM:618398
Primary Biliary Cholangitis	Elevated gamma-glutamyltransferase level, Elevated circulating alkaline phosphatase concentration...	ORPHA:186
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Skeletal muscle atrophy, Elevated circulating hepatic tra...	ORPHA:42
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Anemia, Proteinuria, Glomerulopathy, Renal insufficiency	ORPHA:2668
H Syndrome	Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, Abnormality of the kidney, Micropenis, Hi...	ORPHA:168569
Tempi Syndrome	Polycythemia, Ascites, Increased hematocrit, Telangiectasia, Facial erythema, Abnormality of the ...	ORPHA:284227
Stormorken-Sjaastad-Langslet Syndrome	Anemia, Asplenia	ORPHA:3204
Hurler-Scheie Syndrome	Cardiomyopathy, Abnormal heart valve morphology, Splenomegaly, Abnormality of the tonsils, Hepato...	ORPHA:93476
Distal Renal Tubular Acidosis	Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Decrease...	ORPHA:18
Familial Partial Lipodystrophy, Dunnigan Type	Insulin resistance, Cellulitis, Hypertrophic cardiomyopathy, Splenomegaly, Myopathy, Hepatic stea...	ORPHA:2348
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Nephropathy, Focal segmental glomerulosclerosis, Chronic kidney disease, Renal cyst, Neutropenia,...	OMIM:617056
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Enlarged kidney	ORPHA:90301
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Majeed Syndrome	Acne, Inflammatory abnormality of the skin, Osteomyelitis, Leukocytosis, Splenomegaly, Proteinuri...	ORPHA:77297
Glycogen Storage Disease Ixa1	Hepatomegaly, Reduced hepatic phosphorylase kinase activity, Elevated circulating hepatic transam...	OMIM:306000
Meacham Syndrome	Accessory spleen, Hypoplastic left heart, Tetralogy of Fallot, Horseshoe kidney, Scimitar anomaly...	OMIM:608978
Degcags Syndrome	Chronic kidney disease, Premature graying of hair, Cholestasis, Hepatosplenomegaly, Pancytopenia,...	OMIM:619488
Mucopolysaccharidosis, Type Iiib	Splenomegaly, Reduced tissue alpha-N-acetylglucosaminidase activity, Cardiomegaly, Hepatomegaly, ...	OMIM:252920
Fanconi Anemia, Complementation Group A	Duplicated collecting system, Renal agenesis, Bruising susceptibility, Horseshoe kidney, Abnormal...	OMIM:227650
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Pancytopenia, Splenomegaly, Urticaria	OMIM:614979
Klippel-Trénaunay Syndrome	Cellulitis, Microcytic anemia, Ascites, Abnormality of the menstrual cycle, Abnormal tricuspid va...	ORPHA:90308
Immunodeficiency 46	Anemia, Decreased circulating antibody level, Neutropenia, Intermittent thrombocytopenia	OMIM:616740
Al Amyloidosis	Abnormal cardiac atrium morphology, Elevated circulating alkaline phosphatase concentration, Incr...	ORPHA:85443
Peroxisome Biogenesis Disorder 12A (Zellweger)	Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Hyperbi...	OMIM:614886
Galactose Mutarotase Deficiency	Cholestasis, Hepatomegaly, Abnormal circulating enzyme concentration or activity, Decreased liver...	ORPHA:570422
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Cutis marmorata, Livedo ra...	OMIM:615688
Ogden Syndrome	Facial wrinkling, Recurrent otitis media, Hyperbilirubinemia, Ventricular septal defect, Bicuspid...	OMIM:300855
Congenital Disorder Of Glycosylation, Type It	Intrahepatic cholestasis, Dilated cardiomyopathy, Elevated circulating hepatic transaminase conce...	OMIM:614921
Fanconi Anemia, Complementation Group T	Bone marrow hypocellularity, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia	OMIM:616435
Combined Oxidative Phosphorylation Deficiency 53	Septic arthritis, Osteomyelitis, Death in childhood, Death in infancy, Dysplastic corpus callosum...	OMIM:619423
Glycogen Storage Disease Ixc	Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen...	OMIM:613027
Biliary, Renal, Neurologic, And Skeletal Syndrome	Elevated gamma-glutamyltransferase level, Unbalanced atrioventricular canal defect, Dilatation of...	OMIM:619534
Alkaptonuria	Aminoaciduria, Aortic valve stenosis, Aortic valve calcification, Elevated urinary homogentisic a...	ORPHA:56
Ring Chromosome 8 Syndrome	Hydronephrosis, Abnormality of the ureter	ORPHA:1450
Classic Mycosis Fungoides	Erythema, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy, Hepatomegaly	ORPHA:2584
Congenital Pulmonary Lymphangiectasia	Ascites, Splenomegaly, Cyanosis, Hepatomegaly, Chylopericardium, Pulmonic stenosis	ORPHA:2414
Erythrocytosis, Familial, 7	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617981
Erythrocytosis, Familial, 6	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617980
Cinca Syndrome	Urticaria, Leukocytosis, Splenomegaly, Hepatomegaly, Inflammatory abnormality of the eye, Elevate...	ORPHA:1451
Genetic Steroid-Resistant Nephrotic Syndrome	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, Hy...	ORPHA:656
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Atrioventricular canal defect, Hydronephrosis, Urethral atresia, Transposition of the great arter...	OMIM:314390
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:42642
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	3-Methylglutaric aciduria, Glutaric aciduria, Decreased circulating carnitine concentration, Keto...	OMIM:246450
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hyperleucinemia, Hyperammonemia, Hypervalinemia, Increased blood urea nitrogen, Hyperisoleucinemia	OMIM:620085
Paroxysmal Cold Hemoglobinuria	Hemoglobinuria, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Abnormal urinary c...	ORPHA:90035
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated circulating hepatic transaminase concentration, Abnormal lymph node morphology, Abnormal...	ORPHA:54251
Infantile Liver Failure Syndrome 2	Acute hepatic failure, Jaundice, Elevated circulating hepatic transaminase concentration, Cardiom...	OMIM:616483
Leukocyte Adhesion Deficiency	Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome...	ORPHA:2968
Tarp Syndrome	Extramedullary hematopoiesis, Horseshoe kidney, Tetralogy of Fallot, Cyanosis, Hydronephrosis, At...	ORPHA:2886
Congenital Disorder Of Glycosylation, Type Iiaa	Unilateral renal agenesis, Hepatic fibrosis, Nodular regenerative hyperplasia of liver, Biliary c...	OMIM:620454
Proteasome-Associated Autoinflammatory Syndrome 1	Erythema, Premature graying of hair, Microcytic anemia, Recurrent otitis media, Increased circula...	OMIM:256040
Glycogen Storage Disease Ia	Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Decr...	OMIM:232200
Citrullinemia, Type Ii, Neonatal-Onset	Elevated gamma-glutamyltransferase level, Hyperbilirubinemia, Hyperthreoninemia, Elevated circula...	OMIM:605814
Omenn Syndrome	Severe B lymphocytopenia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Lymphaden...	OMIM:603554
Sarcoidosis	Abnormal lymph node morphology, Erythema nodosum, Hepatomegaly, Tubulointerstitial nephritis, Ren...	ORPHA:797
Membranoproliferative Glomerulonephritis, X-Linked	Lipodystrophy, Membranoproliferative glomerulonephritis	OMIM:305800
Systemic Lupus Erythematosus	Discoid lupus rash, Leukopenia, Malar rash, Cutaneous photosensitivity, Hematuria, Proteinuria, L...	ORPHA:536
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatic fibrosis, Inflammation of the large intestine, Dilated cardiomyopathy, Skeletal muscle at...	OMIM:615895
Choreoacanthocytosis	Dilated cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Acanthocyt...	ORPHA:2388
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a...	OMIM:159550
Shwachman-Diamond Syndrome 1	Myocardial necrosis, Nephrocalcinosis, Elevated circulating hepatic transaminase concentration, P...	OMIM:260400
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatic failure, Ascites, Pancreatic lymphangiectasis, Hepatosplenomegaly, Splenomegaly, Hypocalc...	ORPHA:1655
Immunodeficiency 103, Susceptibility To Fungal Infections	Decreased circulating iron concentration, Increased circulating IgE level, Hypereosinophilia, Abn...	OMIM:212050
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Abnormal myeloid leukocyte morphology, Nephrocalcinosis, Stage 5 chronic kidney disease, Hepatic ...	ORPHA:79259
Congenital Disorder Of Glycosylation, Type Iij	Hepatic failure, Elevated circulating hepatic transaminase concentration, Splenomegaly, Elevated ...	OMIM:613489
Muscular Pseudohypertrophy-Hypothyroidism Syndrome	Jaundice	ORPHA:2349
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Proteinuria, Glomerular sclerosis, Glomerulonephritis, Nephrotic syndrome, Hypospadias	OMIM:619428
Alg6-Cdg	Jaundice, Abnormality of the liver, Abnormal circulating enzyme concentration or activity	ORPHA:79320
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Homocystinuria, Cystathioninemia, Methylmalonic aciduria, Cystathioninuria, Elevated circulating ...	OMIM:277380
Desmoplastic Small Round Cell Tumor	Ascites, Anemia, Lymphadenopathy, Abnormal peritoneum morphology, Hepatomegaly, Mediastinal lymph...	ORPHA:83469
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Monocytosis, Refractory anemia	OMIM:616871
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Hydronephrosis, Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Cirrhotic Cardiomyopathy	Ascites, Cardiomegaly, Left atrial enlargement, Left ventricular hypertrophy, Cirrhosis, Right at...	ORPHA:57777
Cardiac-Urogenital Syndrome	Accessory spleen, Hypoplastic left heart, Coronary sinus enlargement, Biventricular hypertrophy, ...	OMIM:618280
Essential Thrombocythemia	Acute leukemia, Bruising susceptibility, Leukocytosis, Splenomegaly, Abnormal platelet morphology...	ORPHA:3318
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Recurrent...	OMIM:613658
Fanconi Anemia, Complementation Group C	Bone marrow hypocellularity, Duplicated collecting system, Renal agenesis, Bruising susceptibilit...	OMIM:227645
Vipoma	Intrahepatic cholestasis, Erythema, Abnormal abdomen morphology, Subcutaneous lipoma, Ascites, Ne...	ORPHA:97282
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Hydronephrosis, Abnormality of the urinary system	ORPHA:2669
Fanconi Anemia, Complementation Group E	Duplicated collecting system, Renal agenesis, Bruising susceptibility, Horseshoe kidney, Abnormal...	OMIM:600901
Insulin-Resistance Syndrome Type B	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ...	ORPHA:2298
Omenn Syndrome	Pneumonia, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatomegaly, Eosinophilia...	ORPHA:39041
Reynolds Syndrome	Generalized abnormality of skin, Ascites, Cirrhosis, Telangiectasia of the skin, Hepatomegaly, Ja...	ORPHA:779
Nephronophthisis 11	Hepatic fibrosis, Nephronophthisis, Tubular basement membrane disintegration, Stage 5 chronic kid...	OMIM:613550
Familial Pancreatic Carcinoma	Peritoneal abscess, Elevated circulating hepatic transaminase concentration, Pancreatic adenocarc...	ORPHA:1333
Familial Cold Autoinflammatory Syndrome 2	Recurrent aphthous stomatitis, Leukocytosis, Splenomegaly, Skin rash, Lymphadenopathy, Erythema n...	OMIM:611762
Attrv30M Amyloidosis	Cardiomegaly, Nephropathy, Cardiomyopathy, Abnormal renal physiology	ORPHA:85447
Diaphanospondylodysostosis	Nephroblastomatosis, Nephrogenic rest, Horseshoe kidney, Enlarged kidney, Cystic renal dysplasia,...	OMIM:608022
Fructose-1,6-Bisphosphatase Deficiency	Neonatal hyperbilirubinemia, Elevated circulating hepatic transaminase concentration, Hypoglycemi...	ORPHA:348
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c...	OMIM:617156
Cranioectodermal Dysplasia 2	Recurrent pneumonia, Portal fibrosis, Biliary cirrhosis, Elevated circulating hepatic transaminas...	OMIM:613610
Hemochromatosis, Type 5	Abnormal circulating copper concentration, Increased circulating iron concentration, Abnormal cir...	OMIM:615517
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Bruising susceptibility, Leukocytosis, Splenomegaly,...	ORPHA:3226
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Hypoglycemia, Elevated circulating aspartate aminotransferase concentrat...	OMIM:619048
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:79292
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Pneumonia, Increased circulating free fatty acid level, Dilated cardiomyopathy, Inflammatory abno...	ORPHA:26793
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Decreased circulat...	OMIM:616100
Combined Oxidative Phosphorylation Deficiency 52	Aminoaciduria, Hypoglycemia, Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotra...	OMIM:619386
Activated Pi3K-Delta Syndrome	Recurrent tonsillitis, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hepatomegaly, Decreased ...	ORPHA:397596
Gaucher Disease, Perinatal Lethal	Hepatic failure, Ascites, Hepatosplenomegaly, Splenomegaly, Petechiae, Neonatal death, Cardiomega...	OMIM:608013
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Cirrhosis, Myeloid leukemia, Anemia, ...	OMIM:614742
Pyridoxal Phosphate-Responsive Seizures	Hypoglycemia, Abnormal circulating arginine concentration, Abnormal circulating threonine concent...	ORPHA:79096
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Acute hepatic fa...	ORPHA:71212
Lipodystrophy, Congenital Generalized, Type 2	Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Reduced subcutaneous adipose tiss...	OMIM:269700
Gaucher Disease, Type Iiic	Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val...	OMIM:231005
Mevalonic Aciduria	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	OMIM:610377
Leigh Syndrome, Nuclear	Hepatocellular necrosis	OMIM:256000
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Bruising susceptibility, HbH hemoglobin, Microcytic anemia, Flexion contracture, Hypospadias	ORPHA:98791
Postinfectious Vasculitis	Inflammatory abnormality of the skin, Palpable purpura, Cutis marmorata, Increased circulating an...	ORPHA:48435
Gaucher Disease, Type I	Aortic valve stenosis, Hypersplenism, Pancytopenia, Splenomegaly, Anemia, Thrombocytopenia, Hepat...	OMIM:230800
Bone Marrow Failure Syndrome 4	Bone marrow hypocellularity, Leukopenia, Thrombocytopenia, Anemia, Decreased circulating antibody...	OMIM:618116
Sialidosis Type 2	Nephropathy, Skeletal muscle atrophy, Umbilical hernia, Ascites, Splenomegaly, Inguinal hernia, H...	ORPHA:87876
Primary Hepatic Neuroendocrine Carcinoma	Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration...	ORPHA:100085
Syndromic Diarrhea	Lymphopenia, Ventricular septal defect, Bicuspid aortic valve, Hepatoblastoma, Cirrhosis, Colitis...	ORPHA:84064
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Recurrent urinary tract infections, Abnormal hemoglobin, Death in infancy, Infectious encephaliti...	ORPHA:847
Gaisböck Syndrome	Increased red blood cell count, Nephrocalcinosis, Increased mean corpuscular hemoglobin concentra...	ORPHA:90041
Idiopathic Congenital Hypothyroidism	Prolonged neonatal jaundice, Macroglossia, Neonatal hyperbilirubinemia, Umbilical hernia	ORPHA:95717
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Nephrocalcinosis, Patent foramen ovale, Hypercalciuria, Elliptocytosis, Anemia, Renal dysplasia	OMIM:300990
Adams-Oliver Syndrome 6	Hepatic fibrosis, Renal hypoplasia, Portal hypertension, Splenomegaly, Truncus arteriosus, Ventri...	OMIM:616589
Noonan Syndrome 4	Bruising susceptibility, Hypertrophic cardiomyopathy, Ventricular septal defect, Hydronephrosis, ...	OMIM:610733
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Intrahepatic cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbil...	OMIM:619685
Non-Acquired Isolated Growth Hormone Deficiency	Microphallus, Premature skin wrinkling, Decreased muscle mass, Prolonged neonatal jaundice, Neona...	ORPHA:631
Osteopetrosis, Autosomal Recessive 1	Facial paralysis, Increased circulating lactate dehydrogenase concentration, Osteomyelitis, Pancy...	OMIM:259700
Galactokinase Deficiency	Hypoglycemia, Hepatosplenomegaly, Hyperinsulinemia, Abnormal circulating enzyme concentration or ...	ORPHA:79237
Interstitial Lung And Liver Disease	Hepatic fibrosis, Hepatic failure, Elevated gamma-glutamyltransferase level, Cholestasis, Elevate...	OMIM:615486
Multicystic Dysplastic Kidney	Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure...	ORPHA:1851
Lymphatic Filariasis	Urethral obstruction, Lymphadenitis, Hypereosinophilia, Abnormality of the lymphatic system, Hema...	ORPHA:2035
Hjv Or Hamp-Related Hemochromatosis	Impotence, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Abnor...	ORPHA:79230
Follicular Lymphoma	Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy	ORPHA:545
Orthostatic Hypotension 1	Hypomagnesemia, Weakness of facial musculature, Increased blood urea nitrogen, Retrograde ejacula...	OMIM:223360
Cirrhosis, Familial	Biliary cirrhosis, Micronodular cirrhosis, Ascites, Cirrhosis, Jaundice, Fulminant hepatitis	OMIM:215600
Alport Syndrome 3A, Autosomal Dominant	Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Neph...	OMIM:104200
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Anemia	ORPHA:371
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hyper...	ORPHA:369
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Increased mean corpuscular volume, Persistence of hemoglobin F, Tetralog...	OMIM:612561
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Aminoaciduria, Glycosuria, Decreased liver function, Hypertrophic cardiomyopathy, Hyperphosphatur...	OMIM:220110
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	ORPHA:26791
Fanconi Anemia, Complementation Group D2	Bone marrow hypocellularity, Duplicated collecting system, Annular pancreas, Renal agenesis, Brui...	OMIM:227646
Axial Mesodermal Dysplasia Spectrum	Abnormality of the urinary system, Abnormality of the spleen, Abnormality of the ureter, Abnormal...	ORPHA:1834
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, Neutropenia, B lymphocytopenia, Intermitte...	OMIM:150550
Goodpasture Syndrome	Glomerular crescent formation, Erythrocyte cylindruria, Renal insufficiency, Cyanosis, Cylindruri...	OMIM:233450
Neurodegeneration With Brain Iron Accumulation 1	Urinary incontinence, Acanthocytosis	OMIM:234200
Hereditary Methemoglobinemia	Methemoglobinemia, Cyanosis	ORPHA:621
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hypoornithinemia, Elevated urine acetoacetic acid level, Elevated urine suberic acid level, Eleva...	OMIM:615751
Microphthalmia, Syndromic 9	Hypoplastic left atrium, Renal hypoplasia, Multilobulated spleen, Horseshoe kidney, Tetralogy of ...	OMIM:601186
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Abnormal T cell count, Elevated circulating hepatic transaminase...	ORPHA:331206
Immunodeficiency 59 And Hypoglycemia	Arteritis, Acne inversa, Hypoglycemia, Herpes simplex encephalitis, Recurrent aphthous stomatitis...	OMIM:233600
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Fgfr2-Related Bent Bone Dysplasia	Hepatosplenomegaly, Extramedullary hematopoiesis	ORPHA:313855
Erythrocytosis, Familial, 5	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617907
Beckwith-Wiedemann Syndrome	Nephrocalcinosis, Pancreatic hyperplasia, Cardiomyopathy, Renal cortical cysts, Vesicoureteral re...	OMIM:130650
Cinca Syndrome	Hepatosplenomegaly, Leukocytosis, Eosinophilia, Lymphadenopathy, Anemia	OMIM:607115
Dihydrolipoamide Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Decreased liver function, Hypertrophic c...	OMIM:246900
Hereditary Renal Hypouricemia	Chronic kidney disease, Hypouricemia, Acute kidney injury, Decreased glomerular filtration rate, ...	ORPHA:94088
Erythrocytosis, Familial, 4	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:611783
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Aminoaciduria, Glycosuria, Decreased liver function, Hypertrophic cardiomyopathy, Hyperphosphatur...	ORPHA:436271
Methylmalonic Aciduria, Cbla Type	Ketonuria, Methylmalonic aciduria, Decreased methylmalonyl-CoA mutase activity, Pancytopenia, Hyp...	OMIM:251100
Congenital Disorder Of Glycosylation, Type Ia	Hepatic steatosis, Death in childhood, Hepatomegaly, Nephrotic syndrome, Premature ovarian insuff...	OMIM:212065
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Hepatic failure, Splenomegaly	ORPHA:664
Listeriosis	Arteritis, Rhabdomyolysis, Pustule, Jaundice, Endocarditis, Acute kidney injury, Osteomyelitis, P...	ORPHA:533
Hyperparathyroidism, Neonatal Severe	Aminoaciduria, Hyperphosphaturia, Splenomegaly, Hepatomegaly, Hypercalciuria, Hypophosphatemia, P...	OMIM:239200
Crimean-Congo Hemorrhagic Fever	Morbilliform rash, Pancytopenia, Hematuria, Erythema nodosum, Neutrophilia, Hepatomegaly, Jaundic...	ORPHA:99827
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ...	ORPHA:99901
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Ventricular septal defect, Death in infancy, Neonatal death	OMIM:613730
Erdheim-Chester Disease	Abnormal pericardium morphology, Osteomyelitis, Renal insufficiency, Skin rash, Abnormal aortic v...	ORPHA:35687
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Prolonged neonatal jaundice, Abnormal circulating thyroglobulin concentration, Conjugated hyperbi...	ORPHA:95715
Khan-Khan-Katsanis Syndrome	Renal hypoplasia, Lymphopenia, Corneal scarring, Vesicoureteral reflux, Patent foramen ovale, Hyd...	OMIM:618460
Glycogen Storage Disease Iii	Hepatic fibrosis, Ventricular hypertrophy, Elevated circulating hepatic transaminase concentratio...	OMIM:232400
Diamond-Blackfan Anemia 10	Morgagni diaphragmatic hernia, Congenital diaphragmatic hernia, Macrocytic anemia, Renal duplicat...	OMIM:613309
Q Fever	Hepatosplenomegaly, Increased circulating antibody level, Hematuria, Hepatomegaly, Purpura, Endoc...	ORPHA:781
Aceruloplasminemia	Decreased circulating iron concentration, Increased circulating ferritin concentration, Acerulopl...	OMIM:604290
Aregenerative Anemia	Bone marrow hypocellularity, Bruising susceptibility, Pancytopenia, Decreased proportion of CD4-p...	ORPHA:101096
Whipple Disease	Insulin resistance, Uveitis, Splenomegaly, Infectious encephalitis, Hyponatremia, Myositis, Hepat...	ORPHA:3452
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, D...	OMIM:174000
Somatostatinoma	Intrahepatic cholestasis, Abnormal abdomen morphology, Subcutaneous lipoma, Ascites, Neoplasm of ...	ORPHA:97283
Thyrocerebroretinal Syndrome	Nephritis, Skeletal muscle atrophy, Thrombocytopenia	OMIM:274240
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Renal agenesis, HbH hemoglobin, Umbilical hernia, Ventricular septal defect, Hydronephrosis, Peri...	OMIM:301040
Imerslund-Grasbeck Syndrome 2	Moderate albuminuria, Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Megal...	OMIM:618882
Acth Deficiency, Isolated	Cholestasis, Jaundice	OMIM:201400
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoalbuminemia, Intestinal lymphangiectasia, Ascites, Hepatomegaly, Iron deficiency anemia, Thro...	OMIM:226300
Congenital Primary Megaureter	Abnormal penis morphology, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithi...	ORPHA:617
Immunodeficiency With Hyper-Igm, Type 4	Absence of lymph node germinal center, Osteomyelitis, Autoimmune hemolytic anemia, Impaired Ig cl...	OMIM:608184
Immunodeficiency, Common Variable, 8, With Autoimmunity	Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto...	OMIM:614700
Pyruvate Carboxylase Deficiency	Neonatal hyperbilirubinemia, Hypoglycemia, Hyperglycemia, Hyperammonemia, Hyperglutamatemia, Hype...	ORPHA:3008
Diffuse Cutaneous Mastocytosis	Elevated total serum tryptase, Dermatographic urticaria, Generalized abnormality of skin, Abnorma...	ORPHA:79456
Hyperlipoproteinemia, Type I	Jaundice, Hepatosplenomegaly, Acute pancreatitis, Splenomegaly	OMIM:238600
Fanconi Anemia, Complementation Group O	Abnormal heart morphology, Stage 5 chronic kidney disease, Death in infancy, Neonatal death, Hydr...	OMIM:613390
Carnitine Palmitoyltransferase I Deficiency	Elevated circulating hepatic transaminase concentration, Ketonuria, Dicarboxylic aciduria, Elevat...	OMIM:255120
Rhabdoid Tumor	Renal neoplasm, Hematuria, Neoplasm of the liver, Lymphadenopathy, Thrombocytopenia, Anemia	ORPHA:69077
North American Indian Childhood Cirrhosis	Prolonged neonatal jaundice, Biliary cirrhosis, Portal hypertension	OMIM:604901
Alstrom Syndrome	Irregular menstruation, Nephritis, Recurrent pneumonia, Dilated cardiomyopathy, Elevated circulat...	OMIM:203800
Igg4-Related Aortitis	Increased circulating IgE level, Increased circulating IgG4 level, Hypereosinophilia, Increased c...	ORPHA:449400
8P23.1 Duplication Syndrome	Hydronephrosis, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect	ORPHA:251076
Multiple Myeloma	Nephropathy, Nephrotic syndrome, Acute kidney injury, Elevated circulating creatinine concentrati...	ORPHA:29073
Immunodeficiency 54	Hepatomegaly, Reduced natural killer cell count, Splenomegaly, Lymphadenopathy	OMIM:609981
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Chronic kidney disease, Hepatic fibrosis, Hepatic failure, Nephronophthisis, Cholestasis, Glucose...	OMIM:615630
Anti-Glomerular Basement Membrane Disease	Renal insufficiency, Proteinuria, Hematuria, Glomerulopathy, Anemia	ORPHA:375
Fructose Intolerance, Hereditary	Transient aminoaciduria, Proximal tubulopathy, Glycosuria, Hypoglycemia, Elevated circulating hep...	OMIM:229600
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Ketonuria, Lower limb muscle weakness, Microcytic anemia, 3-Methylglutaconic aciduria, Elevated c...	OMIM:251900
Combined Oxidative Phosphorylation Deficiency 9	Elevated gamma-glutamyltransferase level, Hypertrophic cardiomyopathy, Elevated circulating aspar...	OMIM:614582
Autoinflammation With Arthritis And Dyskeratosis	Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Punctate keratitis, I...	OMIM:617388
Senior-Loken Syndrome 1	Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Impaired renal concentrati...	OMIM:266900
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hepatic failure, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration,...	OMIM:611126
Farber Lipogranulomatosis	Hepatomegaly, Splenomegaly, Decreased acid ceramidase activity, Lipogranulomatosis	OMIM:228000
Aggressive Systemic Mastocytosis	Decreased liver function, Ascites, Hepatosplenomegaly, Hypersplenism, Portal hypertension, Pancyt...	ORPHA:98850
Systemic Sclerosis	Chronic kidney disease, Acute kidney injury, Nail bed telangiectasia, Osteomyelitis, Renal insuff...	ORPHA:90291
Kawasaki Disease	Hypoalbuminemia, Sterile pyuria, Double outlet right ventricle with subpulmonary ventricular sept...	ORPHA:2331
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Increased circulating IgE level, Lymphopenia, Aplasia of th...	OMIM:102700
Mulibrey Nanism	Hepatomegaly	ORPHA:2576
Renal Failure, Progressive, With Hypertension	Nephritis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal i...	OMIM:161900
Pauci-Immune Glomerulonephritis	Acute kidney injury, Arteritis, Elevated circulating creatinine concentration, Decreased glomerul...	ORPHA:93126
Osteopetrosis, Autosomal Recessive 7	Decreased circulating IgG level, Recurrent pneumonia, Lateral ventricle dilatation, Decreased cir...	OMIM:612301
Fanconi Anemia, Complementation Group V	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:617243
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatosplenomegaly, Joint contracture of the 5th finger, Mitral valve prolapse, Ventricular septa...	OMIM:602782
X-Linked Intellectual Disability, Schimke Type	Ankle flexion contracture, Elbow flexion contracture, Vesicoureteral reflux, Hip contracture, Kne...	ORPHA:85285
Ciliary Dyskinesia, Primary, 53	Abdominal situs inversus, Polysplenia, Situs inversus totalis, Patent foramen ovale, Cardiomegaly...	OMIM:620642
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Recurrent pneumonia, Persistence of hemoglobin F, Umbilical hernia, Ventricular septal defect, Hi...	OMIM:619769
Zellweger Syndrome	Multicystic kidney dysplasia, Hepatic failure, Death in infancy, Ventricular septal defect, Hydro...	ORPHA:912
Ileal Neuroendocrine Tumor	Hepatic failure, Elevated circulating hepatic transaminase concentration, Dermatological manifest...	ORPHA:100078
Aicardi-Goutières Syndrome	Neonatal alloimmune thrombocytopenia, Elevated circulating hepatic transaminase concentration, Hy...	ORPHA:51
Congenital Myopathy 19	Congenital contracture, Skeletal muscle atrophy, Renal atrophy, Hydronephrosis, Facial hypotonia	OMIM:618578
Uremic Pruritus	Chronic kidney disease, Renal hypophosphatemia, Hypermagnesemia, Inflammatory abnormality of the ...	ORPHA:94059
Takenouchi-Kosaki Syndrome	Unilateral renal agenesis, Inguinal hernia, Hydronephrosis, Thrombocytopenia, Abnormal cardiac se...	OMIM:616737
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Anemia	OMIM:614514
Hereditary Xanthinuria	Hypouricemia, Decreased urinary urate, Acute kidney injury, Rheumatoid arthritis, Sulfite oxidase...	ORPHA:3467
Poems Syndrome	Visceromegaly, Polycythemia, Ascites, Hypogonadism, Splenomegaly, Increased circulating antibody ...	ORPHA:2905
Mirage Syndrome	Hypospadias, Microphallus, Recurrent urinary tract infections, Hypoglycemia, Lymphopenia, Leukope...	OMIM:617053
Developmental And Epileptic Encephalopathy 75	Prolonged neonatal jaundice, Cardiomyopathy, Decreased liver function	OMIM:618437
Lipodystrophy, Familial Partial, Type 1	Increased subcutaneous truncal adipose tissue, Insulin-resistant diabetes mellitus, Increased adi...	OMIM:608600
Beckwith-Wiedemann Syndrome	Nephropathy, Visceromegaly, Polycythemia, Abnormal pancreas morphology, Exocrine pancreatic insuf...	ORPHA:116
Hemophagocytic Syndrome Associated With An Infection	Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Increased circulating ...	ORPHA:158048
Bone Dysplasia, Lethal Holmgren Type	Hypertrophic cardiomyopathy, Hernia, Hepatomegaly, Atrial septal defect, Anemia	ORPHA:1842
Classic Hodgkin Lymphoma	Hepatomegaly, Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy	ORPHA:391
Hereditary Fructose Intolerance	Chronic kidney disease, Hypermagnesemia, Reduced circulating aldolase concentration, Renal insuff...	ORPHA:469
Car T Cell Therapy-Associated Cytokine Release Syndrome	Acute kidney injury, Elevated circulating hepatic transaminase concentration, Elevated circulatin...	ORPHA:542323
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Immunodeficiency 92	Leukocytosis, Sclerosing cholangitis, Lymphocytosis, Decreased proportion of class-switched memor...	OMIM:619652
Reni Syndrome	Focal segmental glomerulosclerosis, Hypoalbuminemia, Steroid-resistant nephrotic syndrome, Hypogl...	OMIM:617575
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Panhypogammaglobulinemia, Increased circula...	OMIM:602450
Recombinant Chromosome 8 Syndrome	Joint contracture of the hand, Tetralogy of Fallot, Ventricular septal defect, Hydronephrosis, Do...	OMIM:179613
Combined Immunodeficiency Due To Zap70 Deficiency	Pneumonia, Lymphadenitis, Chronic mucocutaneous candidiasis, Abnormal lymph node morphology, Decr...	ORPHA:911
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt...	OMIM:614172
Gm1-Gangliosidosis, Type Iii	Hepatomegaly, Splenomegaly, Decreased beta-galactosidase activity	OMIM:230650
Gray Platelet Syndrome	Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Splenomegaly, ...	OMIM:139090
46,Xy Sex Reversal 4	Recurrent otitis media, Elevated circulating creatinine concentration, Ureteropelvic junction obs...	OMIM:154230
Pyruvate Dehydrogenase E3 Deficiency	Increased urine alpha-ketoglutarate concentration, Elevated circulating branched chain amino acid...	ORPHA:2394
Cardiomyopathy, Familial Hypertrophic, 27	Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomyocyte hypertrophy, E...	OMIM:618052
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Cyanosis, Methemoglobinemia, Polycythemia, Decreased circulating nicotinamide adenine dinucleotid...	OMIM:250800
Lymphoid Interstitial Pneumonia	Hepatomegaly, Mediastinal lymphadenopathy, Enlarged kidney	ORPHA:79128
Nijmegen Breakage Syndrome	Acute leukemia, Recurrent pneumonia, Skeletal muscle atrophy, Autoimmune hemolytic anemia, Cutane...	ORPHA:647
Congenitally Uncorrected Transposition Of The Great Arteries	Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo...	ORPHA:860
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Joint contracture of the hand, Elevated circulating hepatic transaminase...	OMIM:300280
Erythrocytosis, Familial, 2	Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell ma...	OMIM:263400
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hepatic failure, Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy,...	ORPHA:367
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Bone marrow hypocellularity, Eczematoid dermatitis, Lymphopenia, Leukopenia, Noncompaction cardio...	ORPHA:508542
Argininemia	Portal fibrosis, Micronodular cirrhosis, Oroticaciduria, Cholestasis, Hyperammonemia, Hyperargini...	OMIM:207800
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Pancytopenia, Decreased ...	OMIM:618394
Leptospirosis	Acute kidney injury, Uveitis, Hepatitis, Skin rash, Rhabdomyolysis, Elevated serum transaminases ...	ORPHA:509
Acute Liver Failure	Acute kidney injury, Elevated circulating hepatic transaminase concentration, Hepatitis, Hypoglyc...	ORPHA:90062
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Anemia, Abnormal tricuspid valve morphology, Ventricular septal defect	ORPHA:3405
Digeorge Syndrome	Recurrent otitis media, Hepatic steatosis, Ventricular septal defect, Renal dysplasia, Cholelithi...	OMIM:188400
Mody	Nephropathy, Abnormal oral glucose tolerance, Glycosuria, Insulin-resistant diabetes mellitus, Pa...	ORPHA:552
Immunodeficiency By Defective Expression Of Mhc Class Ii	Abnormal CD4:CD8 ratio, Chronic mucocutaneous candidiasis, Lack of T cell function, Panhypogammag...	ORPHA:572
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly, Ectodermal dysplasia	OMIM:613576
Trichothiodystrophy 6, Nonphotosensitive	Increased HbA2 hemoglobin, Decreased mean corpuscular volume, Cutaneous photosensitivity	OMIM:616943
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Chronic kidney disease, Facial telangiectasia in butterfly midface distribution, Renal insufficie...	OMIM:137940
Carpenter Syndrome 1	Joint contracture of the hand, Hydroureter, Polysplenia, Umbilical hernia, Tetralogy of Fallot, V...	OMIM:201000
Sandhoff Disease	Skeletal muscle atrophy, Hepatosplenomegaly, Increased urinary N-acetylglucosamine-rich oligosacc...	OMIM:268800
Hyperparathyroidism, Transient Neonatal	Splenic cyst, Unilateral renal agenesis, Enlarged kidney	OMIM:618188
Gallbladder Neuroendocrine Tumor	Biliary tract neoplasm, Elevated gamma-glutamyltransferase level, Ascites, Chronic noninfectious ...	ORPHA:100086
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomyopathy, Ascites, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly, Pe...	OMIM:261740
Renal Hypodysplasia/Aplasia 3	Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr...	OMIM:617805
Myopathy With Extrapyramidal Signs	Elevated circulating hepatic transaminase concentration, Extremely elevated creatine kinase, Leuk...	OMIM:615673
Congenital Disorder Of Glycosylation, Type Il	Hypoalbuminemia, Ascites, Hypocholesterolemia, Splenomegaly, Hepatomegaly, Lipodystrophy, Atrial ...	OMIM:608776
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Elevated total serum tryptase, Chronic myelomonocytic leukemia, Urticaria, Flu...	ORPHA:98849
Oslam Syndrome	Anemia	OMIM:165660
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Erythema, Cholestasis, Recurrent otitis media, Hepatosplenomegaly, Hepatic steatosis, Hip contrac...	OMIM:619503
Immunodeficiency 40	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:616433
Intrahepatic Cholestasis Of Pregnancy	Elevated circulating hepatic transaminase concentration, Ascites, Hyperbilirubinemia, Cholecystit...	ORPHA:69665
Lysinuric Protein Intolerance	Aminoaciduria, Hyperlysinuria, Skeletal muscle atrophy, Hemophagocytosis, Increased circulating f...	OMIM:222700
Pseudo-Torch Syndrome 2	Elevated circulating hepatic transaminase concentration, Secundum atrial septal defect, Lateral v...	OMIM:617397
Alg9-Cdg	Periportal fibrosis, Right ventricular dilatation, Ureteral hypoplasia, Hypoplasia of the bladder...	ORPHA:79328
Immune Dysregulation, Autoimmunity, And Autoinflammation	Anemia, Inguinal lymphadenopathy, Cervical lymphadenopathy	OMIM:620514
Hyperinsulinism Due To Hnf1A Deficiency	Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypogl...	ORPHA:324575
Hsd10 Disease, Infantile Type	Hypoglycemia, Hypertrophic cardiomyopathy, Abnormal circulating enzyme concentration or activity,...	ORPHA:391428
Nijmegen Breakage Syndrome	Recurrent pneumonia, Recurrent urinary tract infections, Rhabdomyosarcoma, Recurrent otitis media...	OMIM:251260
Propionic Acidemia	Organic aciduria, Cardiomyopathy, Hypoglycemia, Propionyl-CoA carboxylase deficiency, Hyperammone...	ORPHA:35
Mulibrey Nanism	Ascites, Nephroblastoma, Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial fibrosis	OMIM:253250
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Increased adipose tissue around the neck, Premature graying of hair, Hepatic steatosis, Myopathy,...	ORPHA:280365
Simpson-Golabi-Behmel Syndrome	Multicystic kidney dysplasia, Increased circulating IgE level, Congenital diaphragmatic hernia, V...	ORPHA:373
Cryoglobulinemic Vasculitis	Abnormality of the liver, Cutis marmorata, Renal insufficiency, Splenomegaly, Petechiae, Hematuri...	ORPHA:91138
Shwachman-Diamond Syndrome	Aplastic anemia, Pancytopenia, Increased serum bile acid concentration, Impaired neutrophil chemo...	ORPHA:811
Free Sialic Acid Storage Disease	Ascites, Splenomegaly, Proteinuria, Aplasia/Hypoplasia of the abdominal wall musculature, Hepatom...	ORPHA:834
Hypocomplementemic Urticarial Vasculitis	Angioedema, Abnormal heart valve morphology, Ascites, Renal insufficiency, Splenomegaly, Episcler...	ORPHA:36412
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Inflammation of the large in...	ORPHA:562639
Familial Chylomicronemia Syndrome	Acute pancreatitis, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlip...	ORPHA:444490
Coach Syndrome 1	Hepatic fibrosis, Unilateral renal agenesis, Elevated circulating hepatic transaminase concentrat...	OMIM:216360
Hypocalcemic Vitamin D-Dependent Rickets	Generalized aminoaciduria, Hypochromic anemia, Cardiomyopathy, Leukocytosis, Splenomegaly, Hypoca...	ORPHA:289157
Mosaic Trisomy 9	Camptodactyly of finger, Horseshoe kidney, Abnormal heart valve morphology, Endocardial fibroelas...	ORPHA:99776
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Aminoaciduria, Nephrocalcinosis, Renal hypoplasia, Renal artery stenosis, Splenomegaly, Hypocalce...	OMIM:617913
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly	OMIM:300886
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Renal agenesis, Persisten...	ORPHA:124
Sézary Syndrome	Abnormal lymphocyte morphology, Splenomegaly, Abnormal immunoglobulin level, Lymphadenopathy, Hep...	ORPHA:3162
Methemoglobinemia And Ambiguous Genitalia	Cyanosis, Methemoglobinemia, Micropenis, Hypospadias, Scrotal hypospadias	OMIM:250790
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Type I diabetes mellitus, Eczematoid dermatitis, Exocrine pancreatic insufficiency, Hepatosplenom...	OMIM:615952
Joubert Syndrome 33	Splenomegaly	OMIM:617767
Cronkhite-Canada Syndrome	Hepatomegaly, Anemia, Splenomegaly	ORPHA:2930
Immunodeficiency 81	Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Decreased prop...	OMIM:619374
X-Linked Intellectual Disability, Nascimento Type	Neonatal hyperbilirubinemia, Tetralogy of Fallot, Vesicoureteral reflux, Mitral stenosis, Patent ...	ORPHA:163956
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect	OMIM:619170
Familial Thyroid Dyshormonogenesis	Neonatal hyperbilirubinemia, Umbilical hernia, Abnormal circulating thyroglobulin concentration, ...	ORPHA:95716
Amed Syndrome, Digenic	Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia	OMIM:619151
Gaucher Disease Type 3	Aortic valve calcification, Abnormal heart valve morphology, Pancytopenia, Splenomegaly, Increase...	ORPHA:77261
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Multicystic kidney dysplasia, Abnormal right ventricle morphology, Bifid ureter, Transient neutro...	ORPHA:500095
Livedoid Vasculopathy	Poor wound healing, Polycythemia, Abnormal circulating lipid concentration, Macular purpura, Atro...	ORPHA:542643
Cat-Eye Syndrome	Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia	ORPHA:195
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated circulating acylcarnitine concentration, Red-brown urine, Ventricular hypertrophy, Hepat...	ORPHA:228305
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Chronic kidney disease, Nephritis, Hepatic fibrosis, Renal insufficiency, Death in infancy, Prote...	OMIM:208500
Denys-Drash Syndrome	Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephroblastoma, ...	OMIM:194080
Mucolipidosis Ii Alpha/Beta	Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly, Mucopolysacchariduria, Hepatomegaly, Enl...	OMIM:252500
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Glomerular sclerosis, Increased blood urea nitroge...	OMIM:223900
Combined Oxidative Phosphorylation Deficiency 10	Hypoglycemia, Hypertrophic cardiomyopathy, Ascites, Hyperammonemia, Cardiomegaly, Hyperalaninemia...	OMIM:614702
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypertrophic cardiomyopathy, Ascites, Ventricular septal defect, Hydronephrosis, Cardiomegaly, Mi...	OMIM:616897
Cholestasis, Progressive Familial Intrahepatic, 6	Intrahepatic cholestasis, Periportal fibrosis, Elevated circulating hepatic transaminase concentr...	OMIM:619484
Hijazi-Reis Syndrome	Hyperbilirubinemia	OMIM:301094
Long-Olsen-Distelmaier Syndrome	Dilated cardiomyopathy, Secundum atrial septal defect, Elevated circulating aspartate aminotransf...	OMIM:620609
Glycogen Storage Disease Ii	Firm muscles, Reduced muscle alpha-1,4-glucosidase activity, Increased circulating lactate dehydr...	OMIM:232300
Lassa Fever	Menometrorrhagia, Oliguria, Jaundice, Conjunctivitis, Increased circulating IgM level, Miscarriage	ORPHA:99824
Joubert Syndrome 8	Prolonged neonatal jaundice, Hepatomegaly	OMIM:612291
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Recurrent pneumonia, Recurrent skin infections, Autoimmune hemolytic anemia, ...	OMIM:616576
Orofaciodigital Syndrome Xv	Hydronephrosis, Agenesis of corpus callosum	OMIM:617127
Autosomal Dominant Spastic Paraplegia Type 29	Hiatus hernia, Hyperbilirubinemia, Hernia, Abnormality of the lower urinary tract	ORPHA:101009
Polycystic Liver Disease 2 With Or Without Kidney Cysts	Hepatomegaly, Hepatic cysts	OMIM:617004
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Lymphopenia, Psoriasiform dermatitis, Leukocytosis, Autoimmune hemolytic anemia, Interface hepati...	OMIM:243150
Bone Marrow Failure Syndrome 3	Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Eczematoid derma...	OMIM:617052
Abcd Syndrome	Polycythemia, Neonatal death	OMIM:600501
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Nephritis, Arthritis	OMIM:216950
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Acute kidney injury, Multicystic kidney dysplasia, Elevated circulating hepatic transaminase conc...	ORPHA:93111
Aceruloplasminemia	Decreased circulating iron concentration, Abnormal pancreas morphology, Increased circulating fer...	ORPHA:48818
Renal Caliceal Diverticuli-Deafness Syndrome	Abnormality of the urinary system, Hydroureter, Hydronephrosis, Abnormality of the upper urinary ...	ORPHA:2838
Mogs-Cdg	Decreased circulating IgG level, Decreased circulating IgA level, Hepatosplenomegaly, Cardiomegal...	ORPHA:79330
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Nephropathy, Homocystinuria, Acute kidney injury, Cystathioninemia, Methylmalonic aciduria, Cysta...	OMIM:277400
Peroxisome Biogenesis Disorder 1A (Zellweger)	Aminoaciduria, Macroglossia, Death in childhood, Ventricular septal defect, Hydronephrosis, Intra...	OMIM:214100
Congenital Alveolar Capillary Dysplasia	Aortic valve stenosis, Hypoplastic left heart, Annular pancreas, Tetralogy of Fallot, Atrioventri...	ORPHA:210122
Aredyld Syndrome	Type I diabetes mellitus, Abnormal dental enamel morphology, Abnormality of the ureter, Type II d...	ORPHA:1133
Image Syndrome	Hydronephrosis, Hypospadias, Hypogonadism	ORPHA:85173
Congenital Tricuspid Valve Dysplasia	Cyanosis, Patent foramen ovale, Abnormal tricuspid valve annulus morphology, Cardiomegaly, Tricus...	ORPHA:555874
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ...	OMIM:620430
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro...	OMIM:616005
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Restrictive cardiomyopathy, Dilated cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardi...	OMIM:619424
Afibrinogenemia, Congenital	Bruising susceptibility, Death in childhood, Death in infancy, Neonatal death, Death in adolescen...	OMIM:202400
Waldenström Macroglobulinemia	Normocytic anemia, Monoclonal immunoglobulin M proteinemia, Cutis marmorata, Renal insufficiency,...	ORPHA:33226
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Unilateral renal agenesis, Renal hypoplasia, Abnormal heart morphology, Recurrent otitis media, P...	OMIM:618494
Acute Monoblastic/Monocytic Leukemia	Hypochromic anemia, Oliguria, Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, L...	ORPHA:514
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Morgagni diaphragmatic hernia, Multiple bladder diverticula, Recurrent pneumoni...	OMIM:613177
Gm1-Gangliosidosis, Type I	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Splenomegal...	OMIM:230500
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Hy...	ORPHA:567546
Fanconi-Bickel Syndrome	Nephropathy, Elevated circulating alkaline phosphatase concentration, Hypophosphatemia, Elevated ...	ORPHA:2088
6P22 Microdeletion Syndrome	Hydronephrosis, Hernia	ORPHA:251046
Kabuki Syndrome 1	Lateral ventricle dilatation, Recurrent otitis media, Crossed fused renal ectopia, Ureteropelvic ...	OMIM:147920
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Lymphadenopathy, Splenomegaly, Pericarditis	ORPHA:85414
Gaucher Disease	Aortic valve calcification, Pancytopenia, Increased circulating antibody level, Hematuria, Cirrho...	ORPHA:355
Acute Panmyelosis With Myelofibrosis	Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye...	ORPHA:86843
Tangier Disease	Distal amyotrophy, Facial diplegia, Splenomegaly, Hypertriglyceridemia, Elevated circulating apol...	OMIM:205400
Primary Triglyceride Deposit Cardiomyovasculopathy	Rimmed vacuoles, Inflammatory abnormality of the skin, Cardiomyopathy, Coronary artery stenosis, ...	ORPHA:565612
Actinic Prurigo	Pyoderma, Cheilitis, Cutaneous photosensitivity, Glomerulonephritis	OMIM:174770
Fucosidosis	Macroglossia, Oligosacchariduria, Bruising susceptibility, Reduced circulating alpha-L-fucosidase...	OMIM:230000
Bachmann-Bupp Syndrome	Hyperbilirubinemia, Hypoglycemia	OMIM:619075
Hermansky-Pudlak Syndrome 2	Reduced natural killer cell count, Recurrent pneumonia, Periodontitis, Enlarged platelet dense gr...	OMIM:608233
Acquired Methemoglobinemia	Methemoglobinemia, Cyanosis	ORPHA:464453
Shwachman-Diamond Syndrome 2	Normocytic anemia, Exocrine pancreatic insufficiency, Death in childhood, Death in infancy, Hyper...	OMIM:617941
Lipodystrophy, Congenital Generalized, Type 1	Acute pancreatitis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Gene...	OMIM:608594
Complement Factor I Deficiency	Recurrent urinary tract infections, Recurrent otitis media, Pyelonephritis, Renal insufficiency, ...	OMIM:610984
Dengue Fever	Bruising susceptibility, Ascites, Leukopenia, Skin rash, Petechiae, Thrombocytopenia, Hepatomegal...	ORPHA:99828
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Pancreatitis, Hepatic steatosis	ORPHA:79084
Gaucher Disease, Type Ii	Splenomegaly, Death in infancy, Anemia, Thrombocytopenia, Hepatomegaly	OMIM:230900
Ghosal Hematodiaphyseal Dysplasia	Bone marrow hypocellularity, Leukopenia, Refractory anemia, Thrombocytopenia	OMIM:231095
Developmental Delay, Language Impairment, And Ocular Abnormalities	Facial telangiectasia, Inguinal hernia, Hydronephrosis, Contracture of the proximal interphalange...	OMIM:620141
Chronic Granulomatous Disease	Mediastinal lymphadenopathy, Splenomegaly, Hepatomegaly, Abnormality of neutrophils, Cutaneous ph...	ORPHA:379
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Hypoalbuminemia, Decreased circulating iron concentration, Atypical scarring of skin, Decreased c...	ORPHA:89842
Diabetic Embryopathy	Tetralogy of Fallot, Ventricular septal defect, Hydronephrosis, Renal hypoplasia/aplasia, Aplasia...	ORPHA:1926
Joubert Syndrome 37	Hydronephrosis, Hepatomegaly, Micropenis	OMIM:619185
Mitchell-Riley Syndrome	Annular pancreas, Pancreatic hypoplasia, Cholestasis, Hyperglycemia, Ascites, Hyperbilirubinemia,...	OMIM:615710
3C Syndrome	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect...	ORPHA:7
Mirizzi Syndrome	Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hyperbilirubinemia, Dark...	ORPHA:521219
Lig4 Syndrome	Erythema, Acute leukemia, Pancytopenia, Type II diabetes mellitus, Leukocytosis, Telangiectasia o...	ORPHA:99812
Polycythemia Vera	Acute leukemia, Polycythemia, Bruising susceptibility, Portal hypertension, Splenomegaly, Leukocy...	ORPHA:729
Lipodystrophy, Congenital Generalized, Type 4	Insulin resistance, Increased variability in muscle fiber diameter, Centrally nucleated skeletal ...	OMIM:613327
22Q11.2 Duplication Syndrome	Hypoplastic left heart, Aplasia/Hypoplasia of the thymus, Tetralogy of Fallot, Ventricular septal...	ORPHA:1727
Suleiman-El-Hattab Syndrome	Inguinal hernia, Patent foramen ovale, Ventricular septal defect, Hydronephrosis, Atrial septal d...	OMIM:618950
Beta-Ketothiolase Deficiency	Ketonuria, Hypoglycemia, Hyperglycemia, Leukocytosis, Hyperammonemia, Hyperuricemia, Thrombocytos...	ORPHA:134
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Insulin resistance, Neonatal hyperbilirubinemia, Hypoglycemia, Hypogonadism	ORPHA:73272
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatic failure, Ketonuria, Increased hepatic echogenicity, Hypoglycemia, Hepatic steatosis, Cyan...	OMIM:261680
Granulomatosis With Polyangiitis	Ureteral stenosis, Renal insufficiency, Otitis media, Skin rash, Hematuria, Proteinuria, Glomerul...	ORPHA:900
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Ascites, Hypertrophic cardiomyopathy, Muscular ventricular septal defect...	OMIM:115197
Nabais Sa-De Vries Syndrome, Type 1	Prolonged neonatal jaundice, Vesicoureteral reflux	OMIM:618828
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Camptodactyly of finger, Hypertrophic cardiomyopathy, Abnormal pulmonary valve morphology, Hypera...	ORPHA:1194
3-Methylglutaconic Aciduria, Type Viii	3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Neonatal death, Death in infancy, Neutrop...	OMIM:617248
Nail-Patella Syndrome	Triceps aplasia, Quadriceps aplasia, Biceps aplasia, Absence of pectoralis minor muscle, Renal in...	OMIM:161200
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Type I diabetes mellitus, Hepatitis, Decreased circulating IgA level, Pancytopenia, Hypersplenism...	OMIM:613385
Ritscher-Schinzel Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Hy...	OMIM:220210
Prune Belly Syndrome With Pulmonic Stenosis, Impaired Intellectual Development, And Deafness	Hydronephrosis, Hydroureter, Pulmonic stenosis	OMIM:264140
Jacobsen Syndrome	Aortic valve stenosis, Bone marrow hypocellularity, Multicystic kidney dysplasia, Hypoplastic lef...	ORPHA:2308
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Lateral ventricle dilatation, Hyperbilirubinemia, Death in childhood, Hip contracture, Ventricula...	OMIM:210710
Xanthinuria, Type I	Hypouricemia, Reduced circulating xanthine oxidase activity, Pyelonephritis, Xanthine nephrolithi...	OMIM:278300
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Unilateral renal agenesis, Total anomalous pulmonary venous return, Abnormal heart morphology, In...	ORPHA:487796
Stromme Syndrome	Accessory spleen, Bilateral renal hypoplasia, Myopathy, Agenesis of corpus callosum, Hydronephros...	OMIM:243605
Sotos Syndrome	Muscular ventricular septal defect, Glucose intolerance, Otitis media, Ventricular septal defect,...	OMIM:117550
Iga Nephropathy, Susceptibility To, 2	Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria	OMIM:613944
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Hydronephrosis	OMIM:619797
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hepatomegaly, Reduced renal corticomedullary differentiation, Splenomegaly	OMIM:618541
Johanson-Blizzard Syndrome	Elevated gamma-glutamyltransferase level, Death in childhood, Ventricular septal defect, Elevated...	OMIM:243800
Bone Marrow Failure Syndrome 5	Erythroid hypoplasia, Pure red cell aplasia, Anemia, Decreased circulating antibody level	OMIM:618165
Congenital Isolated Acth Deficiency	Prolonged neonatal jaundice, Hepatitis	ORPHA:199296
Congenital Anomalies Of Kidney And Urinary Tract 3	Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki...	OMIM:618270
Hydatidiform Mole	Anemia	ORPHA:99927
Oculoskeletodental Syndrome	Renal agenesis, Elbow flexion contracture, Splenomegaly, Hypocalcemia, Hypercalciuria, Mucopolysa...	OMIM:618440
Trisomy 13	Abnormality of the ureter, Ventricular septal defect, Hydronephrosis, Displacement of the urethra...	ORPHA:3378
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Hypoglycemic seizures, Hyperbilirubinemia, Cholestasis	OMIM:609734
Stormorken Syndrome	Howell-Jolly bodies, Hematuria, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen	OMIM:185070
Refsum Disease, Classic	Cardiomyopathy, Elevated circulating phytanic acid concentration, Limb muscle weakness, Cardiomeg...	OMIM:266500
Primary Hyperoxaluria Type 1	Nephrocalcinosis, Enuresis, Recurrent urinary tract infections, Decreased glomerular filtration r...	ORPHA:93598
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Micropenis, Polycystic kidney dysplasia, Enlarged kidney, Renal dysplasia	OMIM:613091
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Hypoalbuminemia, Joint contracture of the hand, Erysipelas, Intestinal lymphangiectasia, Horsesho...	OMIM:235510
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Isolated Sedoheptulokinase Deficiency	Cholestatic liver disease, Hepatitis, Cholestasis, Portal hypertension, Renal insufficiency, Abno...	ORPHA:440713
Combined Oxidative Phosphorylation Deficiency 33	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Myopathy, Elevated circu...	OMIM:617713
Dubowitz Syndrome	Eczematoid dermatitis, Cutis marmorata, Cutaneous photosensitivity, Hydronephrosis, Thrombocytope...	ORPHA:235
Combined Oxidative Phosphorylation Deficiency 11	Decreased liver function, Cardiomyopathy, Hepatic steatosis, Death in childhood, Neonatal death, ...	OMIM:614922
Neurooculocardiogenitourinary Syndrome	Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ventricular septal defect	OMIM:618652
Mucopolysaccharidosis, Type Iiia	Reduced leukocyte N-sulfoglucosamine sulfohydrolase activity, Umbilical hernia, Heparan sulfate e...	OMIM:252900
Kikuchi-Fujimoto Disease	Erythema, Abnormal lymph node morphology, Pustule, Neutropenia, Hepatomegaly, Elevated circulatin...	ORPHA:50918
Spastic Paraplegia 29, Autosomal Dominant	Neonatal hyperbilirubinemia, Urinary hesitancy, Hiatus hernia, Nocturia, Urinary incontinence, Ur...	OMIM:609727
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Type I diabetes mellitus, Hepatitis, Hypoglycemia, Macrocytic anemia, Hyperuri...	ORPHA:199299
Familial Mediterranean Fever	Renal amyloidosis, Erysipelas, Stage 5 chronic kidney disease, Leukocytosis, Splenomegaly, Crohn'...	OMIM:249100
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Decreased urinary urate, Lymphopenia, Autoimmune hemolytic anemia, Abnormal T cell ...	ORPHA:760
Alström Syndrome	Chronic kidney disease, Elevated gamma-glutamyltransferase level, Hepatosplenomegaly, Hyperinsuli...	ORPHA:64
Alagille Syndrome 1	Cholestasis, Ventricular septal defect, Cirrhosis, Atrial septal defect, Duplicated collecting sy...	OMIM:118450
Good Syndrome	Thymoma, Aplasia/Hypoplasia of the thymus, Recurrent urinary tract infections, Abnormal leukocyte...	ORPHA:169105
Adams-Oliver Syndrome 5	Hypersplenism, Splenomegaly, Patent foramen ovale, Portal vein thrombosis, Right atrial enlargeme...	OMIM:616028
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated circulating hepatic transaminase concentration, Glycosuria, Hyperinsulinemia, Hypoketoti...	ORPHA:263455
Musculocontractural Ehlers-Danlos Syndrome	Functional abnormality of the bladder, Bruising susceptibility, Decreased muscle mass, Horseshoe ...	ORPHA:2953
Meckel Syndrome, Type 3	Malformation of the hepatic ductal plate, Hepatic fibrosis, Multicystic kidney dysplasia, Hepatom...	OMIM:607361
Diamond-Blackfan Anemia 1	Renal hypoplasia, Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red ce...	OMIM:105650
Timothy Syndrome	Pneumonia, Hypoglycemia, Tetralogy of Fallot, Hypocalcemia, Patent foramen ovale, Ventricular sep...	OMIM:601005
Trisomy 17P	Aortic valve stenosis, Hypoplastic left heart, Skeletal muscle atrophy, Flexion contracture, Hydr...	ORPHA:261290
Smith-Lemli-Opitz Syndrome	Recurrent otitis media, Hepatic steatosis, Ventricular septal defect, Cirrhosis, Atrial septal de...	OMIM:270400
Congenital Enterovirus Infection	Hepatic failure, Fetal ascites, Hepatitis, Cardiomyopathy, Cholestasis, Leukopenia, Leukocytosis,...	ORPHA:292
Renal Hypoplasia	Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec...	ORPHA:93101
Congenital Generalized Lipodystrophy	Insulin resistance, Hypertrophic cardiomyopathy, Hyperinsulinemia, Hepatic steatosis, Adipose tis...	ORPHA:528
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Erythema, Splenomegaly	ORPHA:33577
Mitochondrial Complex I Deficiency, Nuclear Type 18	Hydronephrosis, Hydroureter, Death in infancy	OMIM:618240
Cockayne Syndrome Type 3	Unilateral renal agenesis, Renal hypoplasia, Elevated circulating hepatic transaminase concentrat...	ORPHA:90324
Vacterl/Vater Association	Multicystic kidney dysplasia, Abnormality of the urethra, Renal agenesis, Abnormality of the gall...	ORPHA:887
Fucosidosis	Vascular skin abnormality, Abnormality of the gallbladder, Cardiomegaly, Hepatomegaly, Acrocyanosis	ORPHA:349
Arima Syndrome	Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Hepatic steatosis, Renal sodi...	OMIM:243910
Endocrine-Cerebroosteodysplasia	Hypospadias, Enlarged kidney, Microphallus, Hyperechogenic kidneys	OMIM:612651
Dyskeratosis Congenita	Bone marrow hypocellularity, Hepatic failure, Blepharitis, Periodontitis, Premature graying of ha...	ORPHA:1775
Methylcobalamin Deficiency Type Cble	Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Neutropenia	ORPHA:2169
American Trypanosomiasis	Cardiomyopathy, Splenomegaly, Lymphadenopathy, Myocarditis, Hepatomegaly	ORPHA:3386
Macrocephaly/Autism Syndrome	Recurrent otitis media, Lymphopenia, Penile freckling, Splenomegaly, Hepatomegaly, Decreased circ...	OMIM:605309
Congenital Disorder Of Glycosylation, Type Ij	Jaundice, Elevated circulating hepatic transaminase concentration	OMIM:608093
Carnitine Palmitoyl Transferase 1A Deficiency	Hepatic failure, Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy...	ORPHA:156
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Perioral erythema, Impaired T cell function, Hypogonadism, Splenomegaly, Low alkaline phosphatase...	OMIM:201100
Allan-Herndon-Dudley Syndrome	Prolonged neonatal jaundice	ORPHA:59
Carnitine-Acylcarnitine Translocase Deficiency	Reduced tissue carnitine-acylcarnitine translocase activity, Ventricular hypertrophy, Elevated ci...	OMIM:212138
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Dilatation of the renal pelvis, Dilatation of the bladder, Neonatal death, Ventricular septal def...	OMIM:265380
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly, Recurrent pneumonia, Oligosacchariduria, Vascular skin abnormality	ORPHA:3137
Iga Nephropathy, Susceptibility To, 1	Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematur...	OMIM:161950
Cystinosis, Nephropathic	Decreased circulating carnitine concentration, Myopathy, Hematuria, Hypophosphatemia, Hepatomegal...	OMIM:219800
Renal Hypoplasia, Bilateral	Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas...	ORPHA:97362
Immunodeficiency 25	Recurrent pneumonia, Increased circulating IgE level, Complete or near-complete absence of specif...	OMIM:610163
Immunodeficiency 22	Decreased circulating IgG level, Ascites, Decreased circulating IgA level, Decreased proportion o...	OMIM:615758
Carnitine-Acylcarnitine Translocase Deficiency	Elevated circulating acylcarnitine concentration, Hepatic failure, Oliguria, Decreased circulatin...	ORPHA:159
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly, Hyperalaninemia	OMIM:619051
Familial Thrombocytosis	Chronic myelogenous leukemia, Splenomegaly, Acute myeloid leukemia, Thrombocytosis, Miscarriage	ORPHA:71493
Neurooculorenal Syndrome	Unilateral renal agenesis, Hypoplasia of the bladder, Bilateral renal agenesis, Hyperechogenic ki...	OMIM:620305
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Umbilical hernia, Cholestasis, Portal hyperte...	OMIM:610199
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Angioedema, Hepatosplenomegaly, Chronic hepatitis, Cutis ma...	ORPHA:3260
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline	Prolonged neonatal jaundice	OMIM:618868
Fanconi Anemia, Complementation Group R	Anemia, Bone marrow hypocellularity, Pelvic kidney	OMIM:617244
Cocaine Intoxication	Acute kidney injury, Increased circulating lactate dehydrogenase concentration, Rhabdomyolysis, E...	ORPHA:90068
Hemihyperplasia-Multiple Lipomatosis Syndrome	Enlarged kidney, Nephroblastoma, Abnormality of the lymphatic system	ORPHA:276280
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Increased mean corpuscular volume	OMIM:619774
Lipe-Related Familial Partial Lipodystrophy	Insulin resistance, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper li...	ORPHA:435660
Williams-Beuren Region Duplication Syndrome	Hydronephrosis, Unilateral renal agenesis, Cutis marmorata, Chronic otitis media	OMIM:609757
Neutral Lipid Storage Disease With Ichthyosis	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Cardiomyopathy, ...	ORPHA:98907
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features	Hydronephrosis, Inguinal hernia	OMIM:235760
Neuroendocrine Tumor Of Stomach	Abnormal pulmonary valve cusp morphology, Hepatic failure, Elevated circulating hepatic transamin...	ORPHA:100075
Mandibuloacral Dysplasia Progeroid Syndrome	Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Prog...	OMIM:619127
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Glycogen Storage Disease Ic	Focal segmental glomerulosclerosis, Inflammation of the large intestine, Spider hemangioma, Hypog...	OMIM:232240
Distal Duplication 6P	Hydronephrosis, Renal hypoplasia, Abnormality of the urinary system, Hernia	ORPHA:1745
Trisomy 1Q	Multicystic kidney dysplasia, Camptodactyly of finger, Congenital diaphragmatic hernia, Ventricul...	ORPHA:261344
Pancreatic And Cerebellar Agenesis	Secundum atrial septal defect, Pancreatic hypoplasia, Hypoglycemia, Hyperglycemia, Reduced subcut...	OMIM:609069
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Insulin resistance, Male hypogonadism, Elevated circulating hepatic transaminase concentration, H...	OMIM:615381
Joubert Syndrome 35	Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis, Recurrent urinary tract infections	OMIM:618161
Primary Intestinal Lymphangiectasia	Decreased circulating IgG level, Peritoneal effusion, Intestinal lymphangiectasia, Ascites, Lymph...	ORPHA:90362
Congenital Disorder Of Glycosylation, Type Ib	Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Proximal tubulopathy, Death in childhood, Ren...	OMIM:602579
Fryns Syndrome	Joint contracture of the hand, Ectopic pancreatic tissue, Renal agenesis, Polysplenia, Ventricula...	OMIM:229850
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Hepatic failure, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis,...	OMIM:203700
Netherton Syndrome	Aminoaciduria, Eczematoid dermatitis, Increased circulating IgE level, Skin rash, Hydronephrosis,...	ORPHA:634
Distal Triplication 15Q	Dilatation of the renal pelvis, Horseshoe kidney, Abnormal heart morphology, Nephroblastoma, Hydr...	ORPHA:314588
Peroxisome Biogenesis Disorder 6B	Distal amyotrophy, Decreased liver function, Elevated circulating phytanic acid concentration, De...	OMIM:614871
Immunodeficiency 82 With Systemic Inflammation	Decreased circulating total IgG, Pustular rash, Recurrent otitis media, Follicular hyperplasia, E...	OMIM:619381
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Prolonged neonatal jaundice, Jaundice	OMIM:613038
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Joint contracture of the hand, Umbilical hernia, Tetralogy of Fallot, Elevated circulating aspart...	OMIM:280000
Ppoma	Intrahepatic cholestasis, Cholelithiasis, Abnormal abdomen morphology, Subcutaneous lipoma, Ascit...	ORPHA:97278
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Type I diabetes mellitus, Inflammatory abnormality of the skin, Functional abnormality of the bla...	ORPHA:391487
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Decreased circulating iron concentration, Aspiration pneumonia, Abnormal heart morphology, Vesico...	ORPHA:438213
Alport Syndrome 1, X-Linked	Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Stag...	OMIM:301050
Mpi-Cdg	Hepatic fibrosis, Decreased liver function, Abnormal circulating enzyme concentration or activity...	ORPHA:79319
Immunodeficiency 31C	Skeletal muscle atrophy, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Lymphopenia, O...	OMIM:614162
8P Inverted Duplication/Deletion Syndrome	Abnormality of the urinary system, Small hypothenar eminence, Contractures of the large joints, A...	ORPHA:96092
Thoraco-Abdominal Enteric Duplication	Hepatomegaly, Abnormal tricuspid valve morphology, Dextrocardia	ORPHA:1759
Fixed Subaortic Stenosis	Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep...	ORPHA:3092
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Hepatomeg...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Hepatomeg...	OMIM:233710
Kleefstra Syndrome	Tetralogy of Fallot, Vesicoureteral reflux, Renal insufficiency, Ventricular septal defect, Hydro...	ORPHA:261494
Mucopolysaccharidosis, Type Ii	Recurrent pneumonia, Umbilical hernia, Abnormal heart valve morphology, Heparan sulfate excretion...	OMIM:309900
Kury-Isidor Syndrome	Hydronephrosis, Recurrent otitis media, Ventricular septal defect	OMIM:619762
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Megaloblastic anemia, Increased mean corpuscular volume	OMIM:277410
Acute Adrenal Insufficiency	Normocytic anemia, Hypoglycemia, Renal insufficiency, Decreased female libido, Hyperuricemia, Hyp...	ORPHA:95409
Copper Deficiency, Familial Benign	Anemia	OMIM:121270
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly	OMIM:612387
Scrub Typhus	Renal insufficiency, Splenomegaly, Skin rash, Infectious encephalitis, Lymphadenopathy, Myocardit...	ORPHA:83317
Focal Dermal Hypoplasia	Erythema, Multicystic kidney dysplasia, Camptodactyly of finger, Horseshoe kidney, Acute hepatic ...	ORPHA:2092
Cardiofaciocutaneous Syndrome 1	Atopic dermatitis, Hypertrophic cardiomyopathy, Splenomegaly, Hydronephrosis, Atrial septal defec...	OMIM:115150
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Prolonged neonatal jaundice	ORPHA:226313
Encephalocraniocutaneous Lipomatosis	Subcutaneous lipoma, Ventricular septal defect, Hydronephrosis, Agenesis of corpus callosum, Subv...	OMIM:613001
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Anemia, Lymphopenia, Portal hypertension, Thrombocytopenia	OMIM:620365
Lethal Congenital Contracture Syndrome 2	Dilated cardiomyopathy, Skeletal muscle atrophy, Ventricular septal defect, Hydronephrosis, Arthr...	OMIM:607598
Distal Xq28 Microduplication Syndrome	Neonatal hyperbilirubinemia, Patent foramen ovale	ORPHA:293939
Tangier Disease	Coronary artery stenosis, Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Left ventric...	ORPHA:31150
African Trypanosomiasis	Myelitis, Keratitis, Conjunctivitis, Abnormality of the menstrual cycle, Infertility, Hepatosplen...	ORPHA:3385
Poikiloderma With Neutropenia	Recurrent pneumonia, Increased circulating lactate dehydrogenase concentration, Recurrent otitis ...	OMIM:604173
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Aminoaciduria, Hypouricemia, Nephrocalcinosis, Elevated circulating hepatic transaminase concentr...	OMIM:616026
Epidermolysis Bullosa Simplex With Pyloric Atresia	Muscular dystrophy, Abnormality of the urinary system, Abnormality of the urethra, Ureterocele, A...	ORPHA:158684
Brain Malformations With Or Without Urinary Tract Defects	Renal hypoplasia, Cutis marmorata, Vesicoureteral reflux, Inguinal hernia, Agenesis of corpus cal...	OMIM:613735
Leukocyte Adhesion Deficiency Type Ii	Recurrent pneumonia, Keratitis, Recurrent urinary tract infections, Microcytic anemia, Recurrent ...	ORPHA:99843
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Dilated cardiomyopathy, Left ventricular noncompaction, Patent foramen ovale, Neonatal death, Lef...	OMIM:619167
Tarp Syndrome	Hepatic failure, Horseshoe kidney, Tetralogy of Fallot, Neonatal death, Hydronephrosis, Atrial se...	OMIM:311900
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hepatomegaly, Renal hypoplasia, Ketonuria, Hypertrophic cardiomyopathy	OMIM:619053
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Severe B lymphocytopenia, Cholelithiasis, Pancreatic hypoplasia, Eczematoid dermatitis, Contractu...	ORPHA:83617
Hyper-Igd Syndrome	Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Skin rash, Elevated urine mevaloni...	OMIM:260920
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Hepatomeg...	OMIM:233690
Corticosteroid-Binding Globulin Deficiency	Anemia, Decreased urinary potassium	OMIM:611489
Hinman Syndrome	Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, E...	ORPHA:84085
Joubert Syndrome With Hepatic Defect	Nephropathy, Multicystic kidney dysplasia, Elevated circulating hepatic transaminase concentratio...	ORPHA:1454
Cat Eye Syndrome	Hypoplastic left heart, Total anomalous pulmonary venous return, Renal agenesis, Umbilical hernia...	OMIM:115470
Scheie Syndrome	Hepatomegaly, Mucopolysacchariduria, Splenomegaly	ORPHA:93474
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteomyelitis, Splenomegaly, Skin rash, Pustule, Hepatomegaly, Neutrophilia, Elevated circulating...	OMIM:612852
Wiskott-Aldrich Syndrome	Nephropathy, Inflammation of the large intestine, Increased circulating IgE level, Abnormal delay...	OMIM:301000
Simpson-Golabi-Behmel Syndrome, Type 1	Total anomalous pulmonary venous return, Duplication of renal pelvis, Polysplenia, Cardiomyopathy...	OMIM:312870
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Increased circulating free fatty acid level, Elevated urinary 3-hydroxybutyric acid, Ketonuria, E...	OMIM:605911
Thyroid Hemiagenesis	Jaundice	ORPHA:95719
Basel-Vanagaite-Smirin-Yosef Syndrome	Recurrent pneumonia, Inguinal hernia, Ventricular septal defect, Hydronephrosis, Agenesis of corp...	OMIM:616449
Basel-Vanagaite-Smirin-Yosef Syndrome	Cholelithiasis, Recurrent pneumonia, Lateral ventricle dilatation, Male urethral meatus stenosis,...	ORPHA:464738
Lipodystrophy, Familial Partial, Type 2	Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck, Hyperglycemia, Hyp...	OMIM:151660
Niemann-Pick Disease Type C	Fetal ascites, Hepatic failure, Aspiration pneumonia, Ascites, Hepatosplenomegaly, Abnormality of...	ORPHA:646
Grfoma	Intrahepatic cholestasis, Cholelithiasis, Abnormal abdomen morphology, Subcutaneous lipoma, Ascit...	ORPHA:97261
Zaki Syndrome	Hydronephrosis, Congenital diaphragmatic hernia, Renal agenesis, Patent foramen ovale	OMIM:619648
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Ureteropelvic junction obstruction, Renal ...	OMIM:143400
Fliedner-Zweier Syndrome	Unilateral renal agenesis, Multicystic kidney dysplasia, Ventricular septal defect, Hydronephrosi...	OMIM:620511
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Recurrent urinary tract infections, Stage 2 chronic kidney disease, Vesicoureteral reflux, Hydron...	OMIM:191800
ERI1-related disease	Abnormal heart morphology, Vesicoureteral reflux, Inguinal hernia, Ventricular septal defect, Hyd...	OMIM:608739
Marden-Walker Syndrome	Aplasia/Hypoplasia involving the skeletal musculature, Multicystic kidney dysplasia, Renal hypopl...	ORPHA:2461
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Cellulitis, Erythema, Uveitis, Erysipelas, Bruising susceptibility, Fasciitis, Leukocytosis, Sple...	ORPHA:32960
Hurler-Scheie Syndrome	Camptodactyly of finger, Umbilical hernia, Heparan sulfate excretion in urine, Contracture of the...	OMIM:607015
Neutral Lipid Storage Disease With Myopathy	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Chronic pancreatitis, Sp...	OMIM:610717
Pachydermoperiostosis	Eczematoid dermatitis, Osteomyelitis, Splenomegaly, Hepatomegaly, Seborrheic dermatitis, Arthriti...	ORPHA:2796
Acquired Generalized Lipodystrophy	Insulin resistance, Progeroid facial appearance, Insulin-resistant diabetes mellitus, Abnormal ci...	ORPHA:79086
Cantu Syndrome	Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion	OMIM:239850
Fanconi Anemia, Complementation Group F	Bone marrow hypocellularity, Renal hypoplasia, Microphallus, Leukopenia, Vesicoureteral reflux, A...	OMIM:603467
Combined Oxidative Phosphorylation Deficiency 19	Elevated gamma-glutamyltransferase level, Elevated circulating aspartate aminotransferase concent...	OMIM:615595
Posterior Urethral Valve	Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre...	ORPHA:93110
Addison Disease	Normocytic anemia, Thymoma, Type I diabetes mellitus, Hypoglycemia, Decreased female libido, Thia...	ORPHA:85138
Cidec-Related Familial Partial Lipodystrophy	Insulin-resistant diabetes mellitus, Hepatic steatosis, Loss of gluteal subcutaneous adipose tiss...	ORPHA:435651
Tetrasomy 9P	Absent gallbladder, Glue ear, Abnormal mitral valve morphology, Dextrocardia, Oligozoospermia, Ja...	ORPHA:3310
Leprechaunism	Nephrocalcinosis, Long penis, Hypertrophic cardiomyopathy, Enlarged ovaries, Hypercalciuria, Hepa...	ORPHA:508
Pancreatoblastoma	Pancreatic calcification, Jaundice, Abnormal lymph node morphology	ORPHA:677
Thyroid Hypoplasia	Jaundice	ORPHA:95720
Koolen-De Vries Syndrome	Abnormal dental enamel morphology, Vesicoureteral reflux, Renal duplication, Hydronephrosis, Bicu...	ORPHA:96169
Urofacial Syndrome 2	Megacystis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral reflux, Hydro...	OMIM:615112
Biotinidase Deficiency	Organic aciduria, Hyperammonemia, Splenomegaly, Skin rash, Seborrheic dermatitis, Decreased circu...	OMIM:253260
Autosomal Recessive Malignant Osteopetrosis	Bruising susceptibility, Abnormal pulmonary valve morphology, Splenomegaly, Hypocalcemia, Otitis ...	ORPHA:667
Urofacial Syndrome 1	Urethral obstruction, Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral v...	OMIM:236730
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Elevated circulating hepatic transaminase concentration, Abnormal abdomen morphology, Osteomyelit...	OMIM:619475
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Increased circulating lactate dehydrogenase concentration, Oligosacchariduria, Hypertrophic cardi...	ORPHA:308552
Arterial Calcification, Generalized, Of Infancy, 2	Cardiomegaly, Right atrial enlargement, Nephrocalcinosis	OMIM:614473
Sotos Syndrome	Decreased fertility, Hip contracture, Ventricular septal defect, Atrial septal defect, Abnormalit...	ORPHA:821
Bardet-Biedl Syndrome	Chronic kidney disease, Inflammation of the large intestine, Type II diabetes mellitus, Hepatic s...	ORPHA:110
Cartilage-Hair Hypoplasia	Cardiomyopathy, Hypocalcemia, Hepatomegaly, Mucopolysacchariduria, Aplasia/Hypoplasia of the abdo...	ORPHA:175
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Unilateral renal agenesis, Abnormal heart morphology, Psoriasiform dermatitis, Abnormality of T c...	ORPHA:2237
Igg4-Related Pachymeningitis	Nephritis, Lymphadenitis, Lower limb muscle weakness, Parotitis, Increased circulating IgG4 level...	ORPHA:449427
Tetraploidy	Hydronephrosis, Aplasia/Hypoplasia of the thymus, Renal hypoplasia/aplasia	ORPHA:3305
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Death in childhood, Hepatomegaly, Thrombocytopenia, Micropenis, Decreased hemoglobin concentration	OMIM:619005
Gracile Syndrome	Increased circulating ferritin concentration, Cholestasis, Death in early adulthood, Hepatic stea...	ORPHA:53693
Mucopolysaccharidosis Type 3	Recurrent tonsillitis, Aspiration pneumonia, Umbilical hernia, Heparan sulfate excretion in urine...	ORPHA:581
Microcephaly 26, Primary, Autosomal Dominant	Hydronephrosis, Recurrent pneumonia, Dysplastic corpus callosum, Patent foramen ovale	OMIM:619179
Czeizel-Losonci Syndrome	Abnormality of the urinary system, Ureteral agenesis, Hydronephrosis, Dextrocardia, Congenital me...	ORPHA:2437
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Cyanosis, Patent foramen ovale, Cardiomegaly, Atrial septal d...	ORPHA:439
X-Linked Intellectual Disability Due To Gria3 Mutations	Micropenis, Abnormality of muscle size, Hydronephrosis, Facial hypotonia	ORPHA:364028
Hoxha-Aliu Syndrome	Vesicoureteral reflux, Inguinal hernia, Hydronephrosis, Perimembranous ventricular septal defect,...	OMIM:620662
Hypothyroidism Due To Tsh Receptor Mutations	Neonatal hyperbilirubinemia, Umbilical hernia, Prolonged neonatal jaundice, Macroglossia, Increas...	ORPHA:90673
Tropical Pancreatitis	Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Jaundice, A...	ORPHA:103918
Camurati-Engelmann Disease	Skeletal muscle atrophy, Urinary retention, Hypertrophic cardiomyopathy, Hypogonadism, Leukopenia...	ORPHA:1328
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Nephropathy, Nephritis, Decreased glomerular filtration rate, Renal insufficiency, Gout, Hyperuri...	OMIM:162000
Helsmoortel-Van Der Aa Syndrome	Enuresis nocturna, Recurrent urinary tract infections, Abnormal heart morphology, Mitral valve pr...	OMIM:615873
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hyperglycinuria, Decreased circulating carnitine concentration, Elevated circulating hepatic tran...	OMIM:201450
Transketolase Deficiency	Increased level of ribose in urine, Type I diabetes mellitus, Elevated circulating ribitol concen...	ORPHA:488618
Tetrasomy 15Q26	Horseshoe kidney, Camptodactyly, Hydronephrosis, Atrial septal defect	OMIM:614846
1P36 Deletion Syndrome	Dilated cardiomyopathy, Annular pancreas, Camptodactyly of finger, Abnormal heart valve morpholog...	ORPHA:1606
Blau Syndrome	Nephropathy, Posterior uveitis, Erythema, Keratitis, Camptodactyly of finger, Abnormality of the ...	ORPHA:90340
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Patent foramen ovale, Aplasia of the thymus, Atrial septal defect, Prolonged neonatal jaundice, U...	OMIM:620186
Diamond-Blackfan Anemia 7	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612562
Coronary Arterial Fistula	Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C...	ORPHA:2041
Microsporidiosis	Lymphadenitis, Urethritis, Abnormality of the spleen, Abnormality of the urinary system physiolog...	ORPHA:2552
Mitochondrial Complex I Deficiency, Nuclear Type 1	Hepatic failure, Skeletal muscle atrophy, Hypoglycemia, Concentric hypertrophic cardiomyopathy, H...	OMIM:252010
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Unilateral renal agenesis, Erythema, Umbilical hernia, Elevated 8(9)-cholestenol, Hydronephrosis,...	OMIM:308050
Zygomycosis	Cellulitis, Pustule, Acute infectious pneumonia, Neutropenia, Endocarditis, Renal insufficiency, ...	ORPHA:73263
Citrullinemia Type Ii	Hypoalbuminemia, Hepatic fibrosis, Enuresis, Elevated circulating hepatic transaminase concentrat...	ORPHA:247585
Chronic Visceral Acid Sphingomyelinase Deficiency	Cholelithiasis, Hepatic failure, Abnormal circulating lipid concentration, Decreased HDL choleste...	ORPHA:77293
Mednik Syndrome	Hepatic fibrosis, Erythema, Cholestasis, Death in childhood, Death in infancy, Neonatal death, Ci...	OMIM:609313
Familial Mediterranean Fever	Nephropathy, Erythema, Nephrocalcinosis, Erysipelas, Ascites, Acute hepatic failure, Leukocytosis...	ORPHA:342
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Macroglossia, Acute kidney injury, Nephronophthisis, Hepatic fibrosis, Umbilical hernia, Cholesta...	OMIM:266920
Chromosome 2P16.1-P15 Deletion Syndrome	Joint contracture of the hand, Hypogonadism, Hydronephrosis, Micropenis, Camptodactyly	OMIM:612513
Ochoa Syndrome	Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficie...	ORPHA:2704
Desmoid Tumor	Hydronephrosis, Abnormality of the upper urinary tract	ORPHA:873
Mesomelia-Synostoses Syndrome	Hydronephrosis, Umbilical hernia	ORPHA:2496
Endove Syndrome, Limb-Brain Type	Umbilical hernia, Recurrent urinary tract infections, Osteomyelitis, Hydronephrosis, Neurogenic b...	OMIM:619218
Mucopolysaccharidosis Type 6	Abnormal heart valve morphology, Splenomegaly, Hernia, Mucopolysacchariduria, Sinusitis, Macroglo...	ORPHA:583
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Hydronephrosis, Hypoplasia of penis, Camptodactyly of finger	ORPHA:2083
Trisomy 20P	Camptodactyly of finger, Umbilical hernia, Abnormality of the ureter, Inguinal hernia, Hydronephr...	ORPHA:261318
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Prolonged neonatal jaundice, Elevated amniotic fluid alpha-fetoprotein, Limb hypertonia	ORPHA:423479
Familial Tumoral Calcinosis	Hepatomegaly, Nephrocalcinosis, Splenomegaly	ORPHA:53715
Melnick-Needles Syndrome	Hydronephrosis, Vesicoureteral reflux, Abnormal cardiac septum morphology, Omphalocele	ORPHA:2484
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Generalized amyotrophy, Hepatic failure, Skeletal muscle atrophy, Micronodular cirrhosis, Aspirat...	OMIM:301072
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Hydronephrosis, Arthrogryposis multiplex congenita, Vesicoureteral reflux	OMIM:618265
X-Linked Dominant Chondrodysplasia Punctata	Hydronephrosis, Scarring alopecia of scalp, Erythroderma, Flexion contracture, Neonatal hypoglycemia	ORPHA:35173
9Q21.13 Microdeletion Syndrome	Hydronephrosis, Abnormal heart morphology	ORPHA:531151
Isolated Thyroid-Stimulating Hormone Deficiency	Neonatal hyperbilirubinemia, Umbilical hernia, Abnormal circulating thyroglobulin concentration, ...	ORPHA:90674
Raine Syndrome	Hydroureter, Elevated circulating alkaline phosphatase concentration, Neonatal death, Hydronephro...	OMIM:259775
Intellectual Disability, Buenos-Aires Type	Hydronephrosis, Abnormal cardiac septum morphology, Umbilical hernia	ORPHA:3079
Fryns Syndrome	Multicystic kidney dysplasia, Tetralogy of Fallot, Vesicoureteral reflux, Congenital diaphragmati...	ORPHA:2059
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Hydronephrosis	OMIM:618060
Agammaglobulinemia, X-Linked	Cor pulmonale, Decreased circulating IgG level, Decreased circulating IgE, Recurrent urinary trac...	OMIM:300755
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hilar lymph node enlargement, Cholestasis, Leukocytosis, Mitral valve prolapse, Hepatomegaly, Rig...	OMIM:620233
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly, Death in childhood, Death in infancy	OMIM:613320
Chime Syndrome	Erythema, Acute leukemia, Tetralogy of Fallot, Ventricular septal defect, Hydronephrosis, Transpo...	ORPHA:3474
Deeah Syndrome	Exocrine pancreatic insufficiency, Death in childhood, Death in infancy, Hepatomegaly, Death in a...	OMIM:619004
Hennekam Syndrome	Erysipelas, Camptodactyly of finger, Horseshoe kidney, Lymphopenia, Ascites, Splenomegaly, Hypoca...	ORPHA:2136
Duane-Radial Ray Syndrome	Renal hypoplasia, Renal agenesis, Horseshoe kidney, Pectoralis hypoplasia, Crossed fused renal ec...	OMIM:607323
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Pneumonia, Hypoglycemia, Hyponatremia, Jaundice, Hyperkalemia	ORPHA:90790
Hermansky-Pudlak Syndrome 10	Hepatomegaly, Splenomegaly, Neutropenia	OMIM:617050
Immunodeficiency 17	Abnormal B cell morphology, Eczematoid dermatitis, Chronic decreased circulating IgG2, Decreased ...	OMIM:615607
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Patent foramen ovale, Hydronephrosis, Limb hypertonia, Atrial septal defect, Limb joint contracture	OMIM:620327
Complete Atrioventricular Septal Defect	Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph...	ORPHA:1329
Lissencephaly Due To Lis1 Mutation	Neonatal hyperbilirubinemia, Aspiration pneumonia	ORPHA:95232
Lethal Congenital Contracture Syndrome 10	Increased variability in muscle fiber diameter, Ventricular septal defect, Cardiomegaly, Hypoplas...	OMIM:617022
Frontometaphyseal Dysplasia 1	Cor pulmonale, Ankle flexion contracture, Hypoplasia of the musculature, Hydroureter, Skeletal mu...	OMIM:305620
Aorta Coarctation	Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ...	ORPHA:1457
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Cardiomegaly, Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morph...	ORPHA:324410
Granulomatous Disease, Chronic, X-Linked	Discoid lupus rash, Cellulitis, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Ascite...	OMIM:306400
Schinzel-Giedion Syndrome	Recurrent pneumonia, Annular pancreas, Umbilical hernia, Abnormal heart morphology, Abnormality o...	ORPHA:798
Zollinger-Ellison Syndrome	Erythema, Lipoma, Increased urinary cortisol level, Esophagitis, Multiple lipomas, Jaundice, Hype...	ORPHA:913
Trisomy 8P	Nephrocalcinosis, Annular pancreas, Tetralogy of Fallot, Abnormal left ventricle morphology, Mult...	ORPHA:264450
Genitopatellar Syndrome	Multicystic kidney dysplasia, Knee flexion contracture, Hip contracture, Hydronephrosis, Agenesis...	ORPHA:85201
Lymphatic Malformation 7	Ascites, Anemia, Pericardial effusion, Atrial septal defect	OMIM:617300
Koolen-De Vries Syndrome	Eczematoid dermatitis, Recurrent urinary tract infections, Vesicoureteral reflux, Ventricular sep...	OMIM:610443
Opitz Gbbb Syndrome	Abnormality of the urinary system, Umbilical hernia, Abnormal heart morphology, Vesicoureteral re...	ORPHA:2745
Distal Deletion 12Q	Congenital hypertrophy of left ventricle, Annular pancreas, Maturity-onset diabetes of the young,...	ORPHA:96149
Prune Belly Syndrome	Hydronephrosis, Aplasia of the abdominal wall musculature, Hydroureter, Congenital posterior uret...	OMIM:100100
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Flexion contracture of toe, Proximal muscle weakness in lower limbs, Abnormal renal collecting sy...	ORPHA:280633
Eisenmenger Syndrome	Bacterial endocarditis, Abnormal circulating B-type natriuretic peptide concentration, Increased ...	ORPHA:97214
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Hydronephrosis, Atrial septal defect, Ventricular septal defect	ORPHA:457193
Weyers Ulnar Ray/Oligodactyly Syndrome	Hydronephrosis	OMIM:602418
Schinzel-Giedion Midface Retraction Syndrome	Hydroureter, Ureteral stenosis, Hydronephrosis, Hepatoblastoma, Atrial septal defect, Micropenis,...	OMIM:269150
2P15P16.1 Microdeletion Syndrome	Multicystic kidney dysplasia, Camptodactyly of finger, Hypogonadism, Inguinal hernia, Hydronephro...	ORPHA:261349
Akt2-Related Familial Partial Lipodystrophy	Insulin resistance, Insulin-resistant diabetes mellitus, Increased intraabdominal fat, Hepatic st...	ORPHA:79085
Pituitary Hormone Deficiency, Combined, 6	Hyperbilirubinemia, Neonatal hypoglycemia, Hypoglycemia	OMIM:613986
Hydrolethalus Syndrome 1	Accessory spleen, Complete atrioventricular canal defect, Ventricular septal defect, Hydronephros...	OMIM:236680
Hyperlipoproteinemia, Type Id	Hepatomegaly, Recurrent pancreatitis, Pancreatitis, Splenomegaly	OMIM:615947
Okamoto Syndrome	Aortic valve stenosis, Abnormal heart morphology, Unilateral renal hypoplasia, Ureteropelvic junc...	ORPHA:2729
Menkes Disease	Atypical scarring of skin, Chondrocalcinosis, Hypoglycemia, Spontaneous hematomas, Umbilical hern...	ORPHA:565
Developmental Delay With Or Without Dysmorphic Facies And Autism	Renal hypoplasia, Microphallus, Umbilical hernia, Vesicoureteral reflux, Congenital diaphragmatic...	OMIM:618454
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Lower limb musc...	ORPHA:268
Eec Syndrome	Keratitis, Abnormal dental enamel morphology, Vesicoureteral reflux, Renal hypoplasia/aplasia, Hy...	ORPHA:1896
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Vesicoureteral reflux, Congenital diaphragmatic hernia, Hydronephrosis, Bladder trabeculation, At...	OMIM:614080
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Atypical scarring of skin, Renal agenesis, Premature graying of hai...	ORPHA:1297
Vesicoureteral Reflux 3	Hydroureter, Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Grade III vesico...	OMIM:613674
Craniofacioskeletal Syndrome	Absent gallbladder, Hypocalcemia, Ventricular septal defect, Hydronephrosis, Atrial septal defect...	OMIM:300712
Alport Syndrome	Thickened glomerular basement membrane, Focal segmental glomerulosclerosis, Glomerular basement m...	ORPHA:63
Neurodegeneration And Seizures Due To Copper Transport Defect	Abnormal circulating copper concentration, Abnormal circulating ceruloplasmin concentration, Glan...	OMIM:620306
Bor Syndrome	Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction ...	ORPHA:107
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Renal hypoplasia, Splenomegaly, Nephroblastoma	OMIM:612918
Lipodystrophy, Familial Partial, Type 5	Irregular menstruation, Hepatic steatosis, Lipodystrophy, Hypertriglyceridemia, Hepatomegaly, Inc...	OMIM:615238
Feingold Syndrome Type 1	Nephritis, Horseshoe kidney, Abnormal heart morphology, Multiple muscular ventricular septal defe...	ORPHA:391641
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Premature skin wrinkling, Abnormal heart valve morphology, Ventricular sep...	ORPHA:363705
Pallister-Hall Syndrome	Renal hypoplasia, Hydroureter, Distal urethral duplication, Neonatal death, Hydronephrosis, Renal...	OMIM:146510
Microgastria-Limb Reduction Defect Syndrome	Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Abnormality of the spleen, Crosse...	ORPHA:2538
Resistance To Thyrotropin-Releasing Hormone Syndrome	Prolonged neonatal jaundice	ORPHA:99832
Smith-Lemli-Opitz Syndrome	Abnormal localization of kidney, Multicystic kidney dysplasia, Atrioventricular canal defect, Abn...	ORPHA:818
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Abnormal heart morphology, Atrioventricular canal defect, Vesicoureteral reflux, Ventricular sept...	ORPHA:453499
Webb-Dattani Syndrome	Vesicoureteral reflux, Hydronephrosis, Neurogenic bladder, Hyposthenuria, Hypernatremia	OMIM:615926
Cardiac Valvular Dysplasia 1	Valvular pulmonary stenosis, Hydroureter, Urethral diverticulum, Tricuspid stenosis, Muscular ven...	OMIM:212093
Danon Disease	Skeletal muscle autophagosome accumulation, Myocardial necrosis, Dilated cardiomyopathy, Generali...	OMIM:300257
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, 3-Methylglutaconic aciduria, Cardiomyopathy, Increased hepatic glycogen content	OMIM:619259
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	Hydronephrosis, Limb hypertonia	ORPHA:488613
Thakker-Donnai Syndrome	Tetralogy of Fallot, Congenital diaphragmatic hernia, Ventricular septal defect, Hydronephrosis, ...	ORPHA:1780
1Q21.1 Microdeletion Syndrome	Vesicoureteral reflux, Inguinal hernia, Agenesis of corpus callosum, Hydronephrosis, Abnormal car...	ORPHA:250989
Beck-Fahrner Syndrome	Cardiomegaly, Ventricular septal defect	OMIM:618798
15Q Overgrowth Syndrome	Ureterovesical stenosis, Contracture of the proximal interphalangeal joint of the 2nd finger, Hor...	ORPHA:314585
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Umbilical hernia, Diastasis recti, Inguinal hernia, Hydronephrosis, Wrist flexion contracture, Fl...	ORPHA:254528
Gabriele-De Vries Syndrome	Lateral ventricle dilatation, Ureteropelvic junction obstruction, Patent foramen ovale, Hydroneph...	OMIM:617557
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hemolytic anemia, Facial paralysis, Elevated circulating creatine kinase concentration	OMIM:175780
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Aortic valve calcification, Bacterial endocarditis, Cholelithiasis, Hepatic fibrosis, Poor wound ...	ORPHA:2072
Chondrodysplasia Punctata 2, X-Linked Dominant	Hydronephrosis, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Erythroderma	OMIM:302960
Amyloidosis, Hereditary Systemic 1	Urinary incontinence, Cardiomegaly, Impotence, Cardiomyopathy	OMIM:105210
Von Hippel-Lindau Disease	Polycythemia, Upper limb muscle weakness, Cardiomyopathy, Elevated urinary catecholamine level, D...	ORPHA:892
Rubinstein-Taybi Syndrome 1	Accessory spleen, Hypoplastic left heart, Keloids, Hepatic hemangioma, Mitral valve prolapse, Ven...	OMIM:180849
Endove Syndrome, Limb-Only Type	Hydronephrosis, Vesicoureteral reflux, Umbilical hernia	OMIM:619217
22Q11.2 Deletion Syndrome	Ventricular septal defect, Atrial septal defect, Polycystic kidney dysplasia, Hypospadias, Chroni...	ORPHA:567
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Hydronephrosis, Vesicoureteral reflux, Atrial septal defect, Ventricular septal defect	OMIM:620663
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Occipital Horn Syndrome	Atypical scarring of skin, Keloids, Hepatitis, Bruising susceptibility, Recurrent urinary tract i...	ORPHA:198
Cardiofaciocutaneous Syndrome	Abnormal heart valve morphology, Hypertrophic cardiomyopathy, Excessive wrinkled skin, Hydronephr...	ORPHA:1340
Combined Immunodeficiency-Enteropathy Spectrum	Peritoneal abscess, Type I diabetes mellitus, Hepatitis, Psoriasiform dermatitis, Autoimmune hemo...	ORPHA:436252
Wiedemann-Rautenstrauch Syndrome	Recurrent otitis media, Prominent scalp veins, Type II diabetes mellitus, Hepatic steatosis, Redu...	ORPHA:3455
Hyperphosphatasia-Intellectual Disability Syndrome	Hydronephrosis, Telangiectasia, Elevated circulating alkaline phosphatase concentration	ORPHA:247262
Glycogen Storage Disease Due To Acid Maltase Deficiency	Increased circulating lactate dehydrogenase concentration, Oligosacchariduria, Lower limb muscle ...	ORPHA:365
Noonan Syndrome	Dilatation of the renal pelvis, Juvenile myelomonocytic leukemia, Bruising susceptibility, Hypert...	ORPHA:648
Familial Aortic Dissection	Cardiomegaly, Cutis marmorata	ORPHA:229
Proteus Syndrome	Long penis, Thymus hyperplasia, Neoplasm of the thymus, Splenomegaly, Enlarged polycystic ovaries...	ORPHA:744
Toluene Embryopathy	Hydronephrosis, Abnormal localization of kidney	ORPHA:1920
Genetic Transient Congenital Hypothyroidism	Prolonged neonatal jaundice, Macroglossia, Increased circulating thyroglobulin concentration, Umb...	ORPHA:226316
7Q11.23 Microduplication Syndrome	Aortic valve stenosis, Unilateral renal agenesis, Hypospadias, Cutis marmorata, Congenital diaphr...	ORPHA:96121
Peroxisome Biogenesis Disorder 1B	Hepatic fibrosis, Hyperoxaluria, Renal cyst, Cirrhosis, Hepatomegaly	OMIM:601539
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Hydroureter, Abnormal heart morphology, Neonatal death, Hydronephrosis, Fetal megacystis	OMIM:619362
Hyperzincemia With Functional Zinc Depletion	Hepatomegaly	OMIM:601979
Carey-Fineman-Ziter Syndrome	Skeletal muscle atrophy, Glandular hypospadias, Myopathy, Hydronephrosis, Facial palsy, Aplasia o...	ORPHA:1358
Baller-Gerold Syndrome	Abnormality of the ureter, Vesicoureteral reflux, Hydronephrosis, Abnormal cardiac septum morphol...	ORPHA:1225
Autosomal Recessive Robinow Syndrome	Multicystic kidney dysplasia, Camptodactyly of finger, Tetralogy of Fallot, Umbilical hernia, Abn...	ORPHA:1507
Amoebiasis Due To Free-Living Amoebae	Pneumonia, Increased red blood cell count, Myocardial necrosis, Intrarenal abscess, Infectious en...	ORPHA:68
Microphthalmia, Lenz Type	Hydroureter, Camptodactyly of finger, Renal hypoplasia/aplasia, Hydronephrosis, Hypospadias	ORPHA:568
Intellectual Developmental Disorder, Autosomal Dominant 53	Hydronephrosis, Micropenis, Ventricular septal defect	OMIM:617798
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Pancytopenia, Abnormality of T cell physiology, Splenomegaly...	OMIM:181000
Von Hippel-Lindau Syndrome	Polycythemia, Multiple renal cysts, Renal cell carcinoma, Hepatic hemangioma, Pancreatic cysts, N...	OMIM:193300
Mosaic Trisomy 8	Camptodactyly of finger, Vesicoureteral reflux, Agenesis of corpus callosum, Hydronephrosis, Arth...	ORPHA:96061
Micro Syndrome	Hydronephrosis, Abnormal localization of kidney, Hypoplasia of penis	ORPHA:2510
Charge Syndrome	Renal hypoplasia, Secundum atrial septal defect, Renal agenesis, Aplasia/Hypoplasia of the thymus...	OMIM:214800
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Hepatic sinusoidal dilatation, Lateral ventricle dilatation, Splenic cyst, Patent foramen ovale, ...	OMIM:620371
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Hypoplasia of the bladder, Hydroureter, Valvular pulmonary stenosis, Crossed fused renal ectopia,...	OMIM:300707
Developmental And Epileptic Encephalopathy 95	Umbilical hernia, Multiple joint contractures, Elevated circulating alkaline phosphatase concentr...	OMIM:618143
Trisomy 18	Camptodactyly of finger, Congenital diaphragmatic hernia, Ventricular septal defect, Hydronephros...	ORPHA:3380
Koolen-De Vries Syndrome Due To A Point Mutation	Eczematoid dermatitis, Cardiomyopathy, Recurrent urinary tract infections, Abnormal heart morphol...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Eczematoid dermatitis, Cardiomyopathy, Recurrent urinary tract infections, Abnormal heart morphol...	ORPHA:363958
Otopalatodigital Syndrome Type 2	Camptodactyly of finger, Abnormal heart valve morphology, Ureteral obstruction, Hydronephrosis, A...	ORPHA:90652
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic valve stenosis, Unilateral renal agenesis, Hypospadias, Ankle flexion contracture, Ventric...	ORPHA:464311
Cerebellar-Facial-Dental Syndrome	Foot joint contracture, Ureteropelvic junction obstruction, Inguinal hernia, Mitral valve prolaps...	ORPHA:444072
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Hydronephrosis, Atrial septal defect, Renal dysplasia	OMIM:300968
Teebi-Shaltout Syndrome	Aortic valve stenosis, Ureteral stenosis, Horseshoe kidney, Ventricular septal defect, Hydronephr...	OMIM:272950
Histiocytoid Cardiomyopathy	Hypoglycemia, Cyanosis, Ventricular septal defect, Cardiomegaly, Renal cyst, Agenesis of corpus c...	ORPHA:137675
Pelvis-Shoulder Dysplasia	Hydronephrosis, Camptodactyly of finger	ORPHA:2839
Congenital Myopathy 17	Renal hypoplasia, Ureteropelvic junction obstruction, Myopathy, Hydronephrosis, Distal arthrogryp...	OMIM:618975
Dyrk1A-Related Intellectual Disability Syndrome	Aortic valve stenosis, Unilateral renal agenesis, Hypospadias, Eczematoid dermatitis, Multiple jo...	ORPHA:464306
Neutral Lipid Storage Myopathy	Rimmed vacuoles, Elevated circulating hepatic transaminase concentration, Increased circulating l...	ORPHA:98908
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Moderate albuminuria, Elevated circulating hepatic transaminase concentration, Hypogonadism, Jaun...	OMIM:614231
Williams Syndrome	Death in early adulthood, Type II diabetes mellitus, Myopathy, Ventricular septal defect, Mitral ...	ORPHA:904
Frontometaphyseal Dysplasia	Hypoplasia of the musculature, Joint contracture of the hand, Keloids, Interphalangeal joint cont...	ORPHA:1826
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness	Thickened glomerular basement membrane, Nephritis, Stage 5 chronic kidney disease, Glomerular bas...	OMIM:609057
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Vesicoureteral reflux, Cutaneous photosensitivity, Patent foramen ovale, Inguinal hernia, Hydrone...	OMIM:618653
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Bruising susceptibility, Umbilical hernia, Atrophic scars, Diastasis recti, Mitral valve prolapse...	OMIM:601776
Alzheimer Disease, Familial, 1	Neurofibrillary tangles, Decreased circulating GABA concentration	OMIM:104300
Mckusick-Kaufman Syndrome	Hypoplastic left heart, Multicystic kidney dysplasia, Glandular hypospadias, Tetralogy of Fallot,...	ORPHA:2473
Junctional Epidermolysis Bullosa With Pyloric Atresia	Ureterocele, Urinary bladder inflammation, Aplasia of the bladder, Renal duplication, Hematuria, ...	ORPHA:79403
Kabuki Syndrome	Abnormal localization of kidney, Crossed fused renal ectopia, Ureteropelvic junction obstruction,...	ORPHA:2322
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Hypoplasia of the musculature, Small hypothenar eminence, Loss of truncal subcutaneous adipose ti...	ORPHA:2463
Orofaciodigital Syndrome Type 1	Multicystic kidney dysplasia, Elevated circulating hepatic transaminase concentration, Exocrine p...	ORPHA:2750
Apert Syndrome	Ventricular septal defect, Hydronephrosis, Agenesis of corpus callosum, Overriding aorta, Acne, C...	OMIM:101200
Doors Syndrome	Increased urine alpha-ketoglutarate concentration, Nephrocalcinosis, Abnormality of the urinary s...	ORPHA:79500
Citrullinemia, Classic	Reduced tissue argininosuccinate synthetase activity, Oroticaciduria, Hyperammonemia, Hyperglutam...	OMIM:215700
Double Outlet Left Ventricle	Cyanosis, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary valve atre...	ORPHA:3427
Cystic Fibrosis	Cor pulmonale, Biliary cirrhosis, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Cirrhosi...	OMIM:219700
Autosomal Recessive Spastic Paraplegia Type 20	Distal amyotrophy, Skeletal muscle atrophy, Upper limb muscle weakness, Hydronephrosis, Dysuria	ORPHA:101000
Dysbetalipoproteinemia	Acute pancreatitis, Tendon xanthomatosis, Decreased HDL cholesterol concentration, Increased LDL ...	ORPHA:412
Congenital Disorder Of Glycosylation, Type Iim	Neonatal hyperbilirubinemia, Lateral ventricle dilatation, Ureteropelvic junction obstruction, En...	OMIM:300896
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Hydronephrosis, Ureteral triplication, Mitral valve prolapse, Umbilical hernia	OMIM:104350
Naxos Disease	Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly...	OMIM:601214
Intellectual Developmental Disorder, X-Linked 112	Enuresis nocturna, Enuresis, Dilatation of the renal pelvis, Horseshoe kidney, Abnormal heart mor...	OMIM:301111
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Abnormal heart morphology, Vesicoureteral reflux, Ventricular septal defect, Hydronephrosis, Bicu...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Abnormal heart morphology, Vesicoureteral reflux, Ventricular septal defect, Hydronephrosis, Bicu...	ORPHA:352665
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Nephritis, Keloids, Unilateral renal atrophy, Pyelonephritis, Torticollis, Oligozoospermia, Renal...	OMIM:314300
Bohring-Opitz Syndrome	Cholelithiasis, Congenital contracture, Urinary retention, Annular pancreas, Nephroblastoma, Agen...	ORPHA:97297
Pfeiffer Syndrome Type 3	Horseshoe kidney, Hydronephrosis, Vesicoureteral reflux	ORPHA:93260
Tropical Endomyocardial Fibrosis	Hypoalbuminemia, Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Asci...	ORPHA:75565
Familial Idiopathic Dilatation Of The Right Atrium	Abnormality of the hepatic vasculature, Cardiomegaly, Hepatomegaly, Right atrial enlargement, Atr...	ORPHA:1677
Bardet-Biedl Syndrome 12	Hydroureter, Hypogonadism, Hydronephrosis, Abdominal mass, Cystic renal dysplasia	OMIM:615989
Occipital Horn Syndrome	Bruising susceptibility, Ureteral obstruction, Hydronephrosis, Bladder diverticulum, Hiatus herni...	OMIM:304150
Viss Syndrome	Increased circulating IgE level, Mitral valve prolapse, Ventricular septal defect, Contracture of...	OMIM:619472
Chromosome 17Q12 Deletion Syndrome	Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad...	OMIM:614527
Melnick-Needles Syndrome	Ureteral stenosis, Recurrent otitis media, Mitral valve prolapse, Hydronephrosis, Tricuspid valve...	OMIM:309350
Robinow Syndrome, Autosomal Recessive 1	Nephrocalcinosis, Umbilical hernia, Abnormal heart morphology, Inguinal hernia, Renal duplication...	OMIM:268310
Arterial Calcification, Generalized, Of Infancy, 1	Cardiomegaly, Dilated cardiomyopathy, Renal artery stenosis	OMIM:208000
Argininosuccinic Aciduria	Aminoaciduria, Hepatic fibrosis, Oroticaciduria, Elevated circulating aspartate aminotransferase ...	OMIM:207900
Cerebrotendinous Xanthomatosis	Cholelithiasis, Abnormal circulating enzyme concentration or activity, Prolonged neonatal jaundic...	ORPHA:909
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Renal hypoplasia, Leukocytosis, Hepatic steatosis, Hypoplasia of the ovary, Micropenis, Flexion c...	OMIM:619321
Baraitser-Winter Cerebrofrontofacial Syndrome	Hydronephrosis, Abnormality of the upper urinary tract, Hydroureter	ORPHA:2995
3Mc Syndrome 1	Diastasis recti, Ventricular septal defect, Hydronephrosis, Conjunctival telangiectasia, Atrial s...	OMIM:257920
Truncus Arteriosus	Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morphology, Cyanosis, Ventri...	ORPHA:3384
Robinow Syndrome	Webbed penis, Multicystic kidney dysplasia, Umbilical hernia, Abnormal heart morphology, Ventricu...	ORPHA:97360
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Elbow flexion contracture, Congenital diaphragmatic hernia, Mitral valve prolapse, Patent foramen...	OMIM:245600
Cantú Syndrome	Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy	ORPHA:1517
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Fragile skin, Cardiomyopathy	ORPHA:158687
Alport Syndrome 2, Autosomal Recessive	Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag...	OMIM:203780
Nail-Patella Syndrome	Thickened glomerular basement membrane, Nephritis, Decreased muscle mass, Elbow flexion contractu...	ORPHA:2614
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Aortic valve stenosis, Multicystic kidney dysplasia, Lateral ventricle dilatation, Recurrent otit...	ORPHA:261537
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Hepatic failure, Hydroureter, Megacystis, Portal hypertension, Hydronephrosis	OMIM:619431
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Hypoglycemia, Umbilical hernia, Agenesis of corpus callosum, Hypogonadotropic hypogonadism, Prolo...	ORPHA:226307
Atresia Of Urethra	Hydroureter, Megacystis, Recurrent urinary tract infections, Ascites, Bladder fistula, Renal insu...	ORPHA:105
Ectodermal Dysplasia And Immunodeficiency 2	Hepatomegaly, Anhidrotic ectodermal dysplasia, Splenomegaly	OMIM:612132
Mowat-Wilson Syndrome	Aortic valve stenosis, Multicystic kidney dysplasia, Recurrent otitis media, Agenesis of corpus c...	ORPHA:2152
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Blepharitis, Hydroureter, Renal agenesis, Ureterocele, Megacystis, Vesicoureteral reflux, Hydrone...	OMIM:604292
Cousin Syndrome	Hydronephrosis, Wrist flexion contracture, Joint contracture of the hand, Camptodactyly	OMIM:260660
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ...	OMIM:620066
Arboleda-Tham Syndrome	Recurrent aspiration pneumonia, Secundum atrial septal defect, Recurrent urinary tract infections...	OMIM:616268
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Blepharitis, Hydroureter, Renal agenesis, Ureterocele, Vesicoureteral reflux, Inguinal hernia, Hy...	OMIM:129900
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Aortic valve stenosis, Pneumonia, Abnormality of the urinary system, Keloids, Recurrent urinary t...	ORPHA:353281
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Aortic valve stenosis, Multicystic kidney dysplasia, Lateral ventricle dilatation, Recurrent otit...	ORPHA:261552
Au-Kline Syndrome	Chronic kidney disease, Hydronephrosis, Vesicoureteral reflux, Dilatation of the renal pelvis	OMIM:616580
Penile Agenesis	Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Unilateral renal hypoplasia, V...	ORPHA:49
Intellectual Developmental Disorder, Autosomal Dominant 42	Lower limb muscle weakness, Ureteropelvic junction obstruction, Hydronephrosis, Neurogenic bladde...	OMIM:616973
Campomelic Dysplasia	Hydronephrosis	ORPHA:140
Al-Gazali Syndrome	Hydronephrosis, Wrist flexion contracture, Recurrent pneumonia	OMIM:609465
Hypothyroidism, Congenital, Nongoitrous, 2	Macroglossia, Hyperbilirubinemia, Increased circulating thyroglobulin concentration, Umbilical he...	OMIM:218700
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Aortic valve stenosis, Pneumonia, Abnormality of the urinary system, Keloids, Recurrent urinary t...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Aortic valve stenosis, Pneumonia, Abnormality of the urinary system, Keloids, Recurrent urinary t...	ORPHA:353277
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Erythema, Hydroureter, Eczematoid dermatitis, Keratitis, Camptodactyly of finger, Abnormal dental...	ORPHA:2273
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly, Telangiectasia of the skin, Telangiectasia of the oral mucosa, Angiokeratoma corpor...	ORPHA:79280
White-Kernohan Syndrome	Hydroureter, Horseshoe kidney, Recurrent otitis media, Dysplastic corpus callosum, Hydronephrosis	OMIM:619426
Thyroid Ectopia	Jaundice	ORPHA:95712
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Moderate albuminuria, Type I diabetes mellitus, Dentinogenesis imperfecta, Periodontitis, Hydrone...	OMIM:619269
Charge Syndrome	Umbilical hernia, Horseshoe kidney, Tetralogy of Fallot, Vesicoureteral reflux, Abnormal aortic v...	ORPHA:138
Monosomy 22Q13.3	Umbilical hernia, Recurrent pyelonephritis, Vesicoureteral reflux, Agenesis of corpus callosum, H...	ORPHA:48652
Ctcf-Related Neurodevelopmental Disorder	Inguinal hernia, Joint contracture of the 5th finger, Phimosis, Atrial septal defect, Prolonged n...	ORPHA:363611
Coffin-Siris Syndrome 1	Renal hypoplasia, Hydroureter, Umbilical hernia, Tetralogy of Fallot, Cutis marmorata, Congenital...	OMIM:135900
Telangiectasia, Hereditary Hemorrhagic, Type 2	Oral cavity telangiectasia, Polycythemia, Palmar telangiectasia, Tongue telangiectasia, Nail bed ...	OMIM:600376
Congenital Tracheomalacia	Abnormal heart morphology, Tetralogy of Fallot, Cyanosis, Ventricular septal defect, Cardiomegaly...	ORPHA:95430
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Abnormality of the urethra, Renal hypoplasia/aplasia, ...	ORPHA:2973
Gabriele-De Vries Syndrome	Distal lower limb amyotrophy, Ureteropelvic junction obstruction, Patent foramen ovale, Agenesis ...	ORPHA:506358
Interatrial Communication	Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s...	ORPHA:1478
15q26 overgrowth syndrome	Duplication of renal pelvis, Renal agenesis, Camptodactyly of finger, Horseshoe kidney, Vesicoure...	DECIPHER:81
Plasminogen Deficiency, Type I	Nephritis, Periodontitis, Nephrolithiasis, Decreased level of plasminogen, Conjunctivitis	OMIM:217090
Visceral Myopathy 1	Urinary retention, Megacystis, Vesicoureteral reflux, Hydronephrosis, Pancreatitis	OMIM:155310
Floating-Harbor Syndrome	Nephrocalcinosis, Dilatation of the renal pelvis, Renal agenesis, Tetralogy of Fallot, Stage 5 ch...	ORPHA:2044
Absence Of The Pulmonary Artery	Tetralogy of Fallot, Abnormal heart morphology, Cyanosis, Patent foramen ovale, Truncus arteriosu...	ORPHA:980
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Cardiomegaly, Ventricular septal defect	ORPHA:96191
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Anemia, Mitral valve prolapse, Hepatic arteriovenous malformation	OMIM:175050
Floating-Harbor Syndrome	Atopic dermatitis, Nephrocalcinosis, Umbilical hernia, Glandular hypospadias, Recurrent otitis me...	OMIM:136140
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Recurrent pneumonia, Eczematoid dermatitis, Umbilical hernia, Hypocalcemia, Ventricular septal de...	OMIM:620330
Peters Plus Syndrome	Hypoplastic left heart, Multicystic kidney dysplasia, Umbilical hernia, Inguinal hernia, Renal du...	ORPHA:709
Early-Onset Autosomal Dominant Alzheimer Disease	Deposits immunoreactive to beta-amyloid protein, Neurofibrillary tangles	ORPHA:1020
Vater/Vacterl Association	Renal agenesis, Tetralogy of Fallot, Vesicoureteral reflux, Ureteropelvic junction obstruction, V...	OMIM:192350
Focal Dermal Hypoplasia	Umbilical hernia, Horseshoe kidney, Bifid ureter, Diastasis recti, Congenital diaphragmatic herni...	OMIM:305600
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Nephrocalcinosis, Cortical nephrocalcinosis, Ascites, Medullary nephroca...	ORPHA:51608
Campomelic Dysplasia	Hydronephrosis, Contracture of the distal interphalangeal joint of the fingers, Hypospadias, Abno...	OMIM:114290
Peters-Plus Syndrome	Renal hypoplasia, Umbilical hernia, Diastasis recti, Ventricular septal defect, Hydronephrosis, B...	OMIM:261540
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Abnormal heart morphology, Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal...	ORPHA:363700
Congenital Total Pulmonary Venous Return Anomaly	Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous...	ORPHA:99125
Alzheimer Disease 9, Susceptibility To	Neurofibrillary tangles	OMIM:608907
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology	Neurofibrillary tangles	OMIM:605055
Early-onset Alzheimer disease with cerebral amyloid angiopathy	Neurofibrillary tangles	DECIPHER:48
Alzheimer Disease 2	Neurofibrillary tangles	OMIM:104310
Gerstmann-Straussler Disease	Neurofibrillary tangles, Lower limb muscle weakness	OMIM:137440
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Enuresis, Renal agenesis, Grade III vesicoureteral reflux, Ureteropelvic junction obstruction, Ve...	OMIM:619522
Telangiectasia, Hereditary Hemorrhagic, Type 1	Polycythemia, Tongue telangiectasia, Nail bed telangiectasia, Nasal mucosa telangiectasia, Cyanos...	OMIM:187300
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Cardiomegaly, Bicuspid aortic valve, Cutis marmorata, Bruising susceptibility	ORPHA:91387
Spongiform Encephalopathy With Neuropsychiatric Features	Neurofibrillary tangles	OMIM:606688
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Muscular dystrophy, Multicystic kidney dysplasia, Elevated circulating creatine kinase concentrat...	OMIM:615287
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Hydronephrosis, Urethral atresia, Inguinal hernia	OMIM:271520
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8	Neurofibrillary tangles	OMIM:619132
Alzheimer Disease 3	Neurofibrillary tangles	OMIM:607822
Oeis Complex	Duplicated collecting system, Hydroureter, Renal agenesis, Hydronephrosis, Omphalocele, Micropeni...	OMIM:258040
Scalp-Ear-Nipple Syndrome	Unilateral renal agenesis, Renal hypoplasia, Lateral ventricle dilatation, Pyelonephritis, Renal ...	OMIM:181270
Hand-Foot-Genital Syndrome	Pyelonephritis, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction obstruction, C...	OMIM:140000
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Patent foramen ova...	OMIM:300967
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Lateral ventricle dilatation, Neurofibrillary tangles	OMIM:607485
Acrofacial Dysostosis, Cincinnati Type	Biventricular hypertrophy, Recurrent otitis media, Partial atrioventricular canal defect, Inguina...	OMIM:616462
Knobloch Syndrome 1	Duplicated collecting system, Bifid ureter, Hydronephrosis, Renal duplication	OMIM:267750
Yunis-Varon Syndrome	Cardiomyopathy, Tetralogy of Fallot, Renal artery stenosis, Ventricular septal defect, Cardiomega...	ORPHA:3472
Genitopatellar Syndrome	Multicystic kidney dysplasia, Hip contracture, Ventricular septal defect, Hydronephrosis, Knee fl...	OMIM:606170
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Cardiomyopathy, Hydronephrosis, Atrial septal defect, Cyst of the ductus choledochus, Renal dyspl...	ORPHA:480880
Otopalatodigital Syndrome, Type Ii	Elbow contracture, Umbilical hernia, Hydronephrosis, Atrial septal defect, Omphalocele, Stillbirt...	OMIM:304120
Holoprosencephaly 3	Hydronephrosis	OMIM:142945
Parkinson Disease 23, Autosomal Recessive Early-Onset	Neurofibrillary tangles	OMIM:616840
Robinow Syndrome, Autosomal Dominant 1	Umbilical hernia, Inguinal hernia, Renal duplication, Hydronephrosis, Micropenis, Macroglossia	OMIM:180700
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Renal hypoplasia, Congenital hepatic fibrosis, Agenesis of corpus callosum, Hydronephrosis, Renal...	ORPHA:93271
Adult-Onset Dystonia-Parkinsonism	Abnormal circulating creatine kinase concentration, Neurofibrillary tangles, Hypomimic face	ORPHA:199351
Autosomal Recessive Cutis Laxa Type 1	Recurrent pneumonia, Multiple bladder diverticula, Urethral diverticulum, Recurrent urinary tract...	ORPHA:90349
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Abnormality of the urinary system, Hydroureter, Hydronephrosis, Abnormality of the upper urinary ...	ORPHA:2636
Lacrimoauriculodentodigital Syndrome	Renal hypoplasia, Abnormal dental enamel morphology, Vesicoureteral reflux, Hydronephrosis, Kerat...	ORPHA:2363
Neurodegeneration With Brain Iron Accumulation 2B	Neurofibrillary tangles	OMIM:610217
Mckusick-Kaufman Syndrome	Hydronephrosis, Polycystic kidney dysplasia, Hydroureter, Vesicovaginal fistula	OMIM:236700
Mesomelia-Synostoses Syndrome	Hydronephrosis	OMIM:600383
Osteogenesis Imperfecta, Type Vii	Hydronephrosis, Dentinogenesis imperfecta, Death in infancy	OMIM:610682
Autosomal Dominant Cutis Laxa	Unilateral renal agenesis, Premature skin wrinkling, Dilatation of the ventricular cavity, Pyelon...	ORPHA:90348
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Renal cortical hyperechogenicity, Anuria, Megacystis, Pyelonephritis, Peritonitis, Fetal megacystis	OMIM:619351
Scalp-Ear-Nipple Syndrome	Type I diabetes mellitus, Duplication of renal pelvis, Recurrent urinary tract infections, Pyelon...	ORPHA:2036
Hyperferritinemia With Or Without Cataract	Abnormal transferrin saturation, Decreased transferrin saturation, Abnormal circulating iron conc...	OMIM:600886
Alzheimer Disease 4	Neurofibrillary tangles, Cerebral amyloid angiopathy	OMIM:606889
Homozygous Familial Hypercholesterolemia	Tendon xanthomatosis, Abnormal tendon morphology, Increased LDL cholesterol concentration, Renal ...	ORPHA:391665
Cerebral Amyloid Angiopathy, Itm2B-Related, 2	Neurofibrillary tangles, Cerebral amyloid angiopathy	OMIM:117300
Supranuclear Palsy, Progressive, 2	Retrocollis, Neurofibrillary tangles	OMIM:609454
Supranuclear Palsy, Progressive, 1	Retrocollis, Neurofibrillary tangles	OMIM:601104
Singleton-Merten Syndrome 1	Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Mitral valve calcification, Subv...	OMIM:182250

Histopathology

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

There is no histopathology data for Sptb

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 Sptb.

There are 6 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Sptbn1^{tm1a(EUCOMM)Wtsi}	PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Sptbn1^{tm1a(EUCOMM)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Sptbn1^{tm1a(EUCOMM)Wtsi}	PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Sptbn1^{tm1a(EUCOMM)Wtsi}	PMC5827107
Loss of β2-spectrin prevents cardiomyocyte differentiation and heart development.	Cardiovascular research (September 2013)	Sptbn1^{tm1c(EUCOMM)Wtsi} Sptbn1^{tm1a(EUCOMM)Wtsi}	PMC4229887
Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes.	Cell (July 2013)	Sptbn1^{tm1a(EUCOMM)Wtsi}	PMC3717207

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MGI Allele	Allele Type	Produced
Sptb^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Sptb^em1(IMPC)J	Exon Deletion	Mice
Sptb^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	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: Sptb MGI:98387

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Eye Morphology

Electroretinography 3

X-ray

X-ray

X-ray

X-ray

X-ray

Electrocardiogram (ECG)

Auditory Brain Stem Response

Human diseases caused by Sptb mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data