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Gene: Slc37a4 MGI:1316650

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

solute carrier family 37 (glucose-6-phosphate transporter), member 4

Synonyms:

G6PT, G6pt1

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Slc37a4 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 Slc37a4 (4 diseases)
Human diseases predicted to be associated with Slc37a4 (1158 diseases)

The table below shows human diseases associated to Slc37a4 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Glycogen Storage Disease Ib	Inflammation of the large intestine, Neutropenia, Decreased glomerular filtration rate, Hepatomeg...	OMIM:232220
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Hypoglycemic seizures, Nephrocalcinosis, Inflammation of the large intestine, Periodo...	ORPHA:79259
Glycogen Storage Disease Ic	Hepatomegaly, Renal insufficiency, Hypoglycemia, Cyclic neutropenia, Proteinuria, Chronic pancrea...	OMIM:232240
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Elevated c...	OMIM:619525

The table below shows human diseases predicted to be associated to Slc37a4 by phenotypic similarity.

Disease	Matching phenotypes	Source
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thriv...	OMIM:232700
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Hypertriglyceridemia, Skin rash, Failure to thrive in infancy, Splenomegaly	OMIM:619175
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Skin rash, Splenomegaly, Jaundice, Increased circulating ferr...	OMIM:603552
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased...	OMIM:615285
Shwachman-Diamond Syndrome	Normocytic anemia, Osteopenia, Transient neutropenia, Aplastic anemia, Sinusitis, Metaphyseal cho...	ORPHA:811
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Generalized lymp...	OMIM:618986
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Acne, Recurrent skin infection...	OMIM:300635
Niemann-Pick Disease, Type B	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Short stature, Bone-...	OMIM:607616
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Splenomegaly, H...	OMIM:614480
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Conju...	OMIM:619868
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Osteopenia, Hypoglycemia, Protein...	ORPHA:369
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Hypertriglyceridemia, Generalized lymphadenopathy, Splenomegaly, Bronchiectasis, Ab...	OMIM:620282
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis,...	OMIM:608898
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Short stature, Splenomegaly, Insulin resis...	OMIM:612526
Macrophage Activation Syndrome	Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen...	ORPHA:158061
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Decreased circu...	OMIM:613101
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Gr...	OMIM:306000
Glycogen Storage Disease Ib	Inflammation of the large intestine, Neutropenia, Decreased glomerular filtration rate, Hepatomeg...	OMIM:232220
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig...	OMIM:619802
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent...	ORPHA:540
Neutropenia, Chronic Familial	Clubbing, Clubbing of fingers, Increased circulating antibody level, Periodontitis, Neutropenia	OMIM:162700
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Thrombocytopenia, Splenomegaly, B...	OMIM:226990
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Nephrotic range proteinuria, Autoimmune thrombocytopenia, Stage...	OMIM:613496
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Short stature, Pneumonia, Short foot, Periodontitis, Reduction of neutrophil motili...	OMIM:266265
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E...	OMIM:616828
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hypertriglyceridemia, Elevat...	ORPHA:158057
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Impaired glucose tolerance, Osteoporosis, Gout, Increased LDL cholesterol c...	OMIM:610947
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Incre...	OMIM:615703
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent otitis media, Failure to thrive, Short stature, Neutropenia	OMIM:616022
Neutral Lipid Storage Disease With Myopathy	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Elevated ci...	OMIM:610717
Immunodeficiency 50	Recurrent urinary tract infections, Eczema, Decreased circulating antibody level, Neutropenia, Ly...	OMIM:300988
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hepatomegaly, Bilateral tonic-clonic seizure with focal onset, Hypersplenism, Splenom...	OMIM:610539
Trimethylaminuria	Trimethylaminuria, Splenomegaly, Recurrent pneumonia, Neutropenia, Anemia	OMIM:602079
Papular Xanthoma	Hyperlipidemia, Histiocytosis	ORPHA:158008
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Postnatal growth...	OMIM:613027
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Hypoglycemic seizures, Nephrocalcinosis, Inflammation of the large intestine, Periodo...	ORPHA:79259
Galactokinase Deficiency	Hepatomegaly, Hypoglycemia, Small for gestational age, Hyperinsulinemia, Hepatosplenomegaly, Incr...	ORPHA:79237
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent urinary tract infections, N...	OMIM:617585
3-Methylglutaconic Aciduria Type 1	Hepatomegaly, Hypoglycemia, Seizure, 3-Methylglutaconic aciduria, Failure to thrive	ORPHA:67046
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated circulating C-reactiv...	OMIM:308240
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Renal insufficiency, Splenomegaly, Hyperammonemia, Anemia, Seizure, Neutropenia, Fa...	ORPHA:79312
Hepatorenocardiac Degenerative Fibrosis	Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosp...	OMIM:619902
Fetal Cytomegalovirus Syndrome	Splenomegaly, Anemia, Hepatomegaly	ORPHA:294
Fanconi-Bickel Syndrome	Osteopenia, Hepatocellular carcinoma, Nephrocalcinosis, Fasting hypoglycemia, Nephropathy, Hepato...	ORPHA:2088
Cholesteryl Ester Storage Disease	Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopeni...	OMIM:278000
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia, Hypoglycemia, Short stature	ORPHA:366
Propionic Acidemia	Hepatomegaly, Pancytopenia, Hypoglycemia, Increased level of hippuric acid in urine, Short statur...	OMIM:606054
Specific Granule Deficiency 1	Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ...	OMIM:245480
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Hypoglycemia, Seizure, Myoclonus, Failure to thrive, Anemia	OMIM:610090
Mucopolysaccharidosis-Plus Syndrome	Metaphyseal widening, Leukopenia, Hypoalbuminemia, Macrovesicular hepatic steatosis, Neutropenia,...	OMIM:617303
Immunodeficiency 98 With Autoinflammation, X-Linked	Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly,...	OMIM:301078
Immunodeficiency 18	Recurrent otitis media, Decreased proportion of CD3-positive T cells, Defective T cell proliferat...	OMIM:615615
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Proteinuria, Short stature, Decreased ...	OMIM:232200
Short Stature Due To Ghsr Deficiency	Hypoglycemia, Abnormality of body weight, Short stature, Growth delay, Decreased body weight, Del...	ORPHA:314811
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli...	OMIM:214900
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Ketotic hypogly...	ORPHA:79240
Wolcott-Rallison Syndrome	Acute hepatic failure, Neonatal insulin-dependent diabetes mellitus, Iron deficiency anemia, Abno...	ORPHA:1667
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Myositis, S...	OMIM:617591
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated circulating creatine kinase concentration, Increased body weight, Hepatic fibrosis, Fast...	ORPHA:264580
Schimke Immuno-Osseous Dysplasia	Impaired T cell function, Neutropenia, Nephropathy, Nephrotic range proteinuria, Short stature, M...	ORPHA:1830
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Hyperlipidemia, Jaundice, Lymphadenopathy, Seizure, Hem...	ORPHA:79477
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia, Hepa...	ORPHA:75234
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia, Growth delay, Seizure, Clinodactyly of the 5th finger, Clinodactyly of the ...	OMIM:618010
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Macrovesi...	OMIM:608836
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa...	OMIM:267700
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia...	OMIM:614470
Congenital Disorder Of Glycosylation, Type Iik	Epiphyseal dysplasia, Metaphyseal dysplasia, Hepatomegaly, Short stature, Elevated circulating as...	OMIM:614727
H Syndrome	Hallux valgus, Hypertriglyceridemia, Diabetes mellitus, Short stature, Abnormality of the kidney,...	ORPHA:168569
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Myoclonus, Seizure	OMIM:615924
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia, Diabetes mellitus, Obesity	OMIM:608320
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Maturity-onset diabetes of the young, Postnatal growth retardation, Small hand, Obesity, Short fo...	ORPHA:254531
Immunodeficiency 24	Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco...	OMIM:615897
Pontocerebellar Hypoplasia, Type 15	Bilateral tonic-clonic seizure, Chronic neutropenia, Infantile spasms, Focal-onset seizure, Simpl...	OMIM:619302
Immunodeficiency 104	Hepatomegaly, Eczema, Pneumonia, Splenomegaly, Chronic mucocutaneous candidiasis, Lymphadenopathy...	OMIM:608971
Pontocerebellar Hypoplasia, Type 14	Bilateral tonic-clonic seizure, Chronic neutropenia, Infantile spasms, Focal-onset seizure, Simpl...	OMIM:619301
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co...	OMIM:614700
Immunodeficiency 108 With Autoinflammation	Hyposegmentation of neutrophil nuclei, Recurrent aphthous stomatitis, Impaired neutrophil chemotaxis	OMIM:260570
Pelger-Huet Anomaly	Bilateral tonic-clonic seizure, Eczema, Abnormality of neutrophils, Hyposegmentation of neutrophi...	OMIM:169400
Shwachman-Diamond Syndrome 1	Metaphyseal chondrodysplasia, Metaphyseal widening, Proximal femoral metaphyseal irregularity, Co...	OMIM:260400
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, In...	ORPHA:158048
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia	OMIM:618310
Glycogen Storage Disease Iii	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c...	OMIM:232400
Hemophagocytic Lymphohistiocytosis, Familial, 2	Leukopenia, Hypoalbuminemia, Infectious encephalitis, Hyponatremia, Hepatomegaly, Hepatosplenomeg...	OMIM:603553
Glycogen Storage Disease Ixb	Hepatomegaly, Hypoglycemia, Short stature, Splenomegaly, Growth delay, Hyperuricemia, Increased h...	OMIM:261750
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Methylcobalamin Deficiency Type Cble	Syndactyly, Macrocytic anemia, Pancytopenia, Hypomethioninemia, Glomerulopathy, Hemolytic-uremic ...	ORPHA:2169
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Stage 5 chronic kidney disease, Hyperammonemi...	OMIM:251000
Mitochondrial Complex I Deficiency, Nuclear Type 33	Small for gestational age, Hypospadias, Hypoglycemia, Bronchiectasis, Hyperammonemia, Simplified ...	OMIM:618253
Reni Syndrome	Diffuse mesangial sclerosis, Hypertriglyceridemia, Hypoglycemia, Proteinuria, Mesangial hypercell...	OMIM:617575
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Renal insufficiency, Hyperammonemia, Anemia, Renal tubular dysfunction, Growth dela...	ORPHA:289916
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating...	OMIM:613501
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypogl...	ORPHA:324575
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jaundice, Biliary tract abnormal...	ORPHA:1414
Temple Syndrome	Hypertriglyceridemia, Small for gestational age, Short stature, Maturity-onset diabetes of the yo...	OMIM:616222
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Glomerulonephritis, Autoimmune thrombocytopenia, Eczema, Increased circulating IgE ...	OMIM:304790
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Short stature, Abnormality of the tonsils, Oste...	ORPHA:47
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen...	ORPHA:263458
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ...	OMIM:619707
Cog4-Cdg	Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive in infancy, Hepa...	ORPHA:263501
Aggressive Systemic Mastocytosis	Pancytopenia, Maculopapular exanthema, Portal hypertension, Hypersplenism, Thrombocytopenia, Leuk...	ORPHA:98850
Hemochromatosis, Type 3	Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin...	OMIM:604250
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, De...	ORPHA:169154
Necrobiosis Lipoidica	Diabetes mellitus, Inflammatory abnormality of the skin, Granuloma, Abnormality of neutrophil phy...	ORPHA:542592
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, H...	OMIM:301082
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Short stature, Abscess, Eczema, Perianal abscess, Splenomeg...	OMIM:618935
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Pancytopenia, Failure to thrive, Hypoglycemia, Elevated circulating creatinine conc...	OMIM:617872
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Short stature, Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst,...	OMIM:617056
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hyperalaninemia, Hepatomegaly, Increased urine succinate level, Hypoglycemia, Elevated circulatin...	OMIM:619048
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Leukopenia, Increased circulating IgG level, T lymphocytopenia, Neutropen...	ORPHA:443811
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Severe short-limb dwarfism, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hepatic st...	ORPHA:436182
Neonatal Hemochromatosis	Hypoglycemia, Congenital hepatic fibrosis, Increased circulating ferritin concentration, Abnormal...	ORPHA:446
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated hepatic transaminase, Hypertriglyceridemia, Arachnodactyly, Short stature, Microcytic an...	OMIM:619013
Lecithin:Cholesterol Acyltransferase Deficiency	Hemolytic anemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Renal insufficie...	OMIM:245900
Felty Syndrome	Episcleritis, Hepatomegaly, Recurrent urinary tract infections, Sinusitis, Pericarditis, Splenome...	ORPHA:47612
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Seizure, Recurrent hypogl...	ORPHA:79299
Microcephalic Primordial Dwarfism, Toriello Type	Severe short stature, Decreased circulating total IgM, Abnormal epiphysis morphology, Neutropenia...	ORPHA:2643
Tyrosinemia, Type I	Acute hepatic failure, Nephrocalcinosis, Renal Fanconi syndrome, Hypophosphatemic rickets, Hepato...	OMIM:276700
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Diabetes mellitus, Hydroureter, Megaloblastic anemia, Seizure, Neutropenia,...	OMIM:598500
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Short stature, Neutropenia	ORPHA:90023
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly, Hypereosinophi...	OMIM:615387
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ...	ORPHA:75564
3-Methylglutaconic Aciduria Type 4	Hypoglycemia, Seizure, 3-Methylglutaconic aciduria, Decreased liver function, Failure to thrive, ...	ORPHA:67048
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia	OMIM:609016
Lipodystrophy, Familial Partial, Type 1	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hype...	OMIM:608600
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Arthralgia/arthritis, Reactive hypoglycemia, Insulin-resistant diabetes ...	ORPHA:411593
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato...	OMIM:308230
Focal Segmental Glomerulosclerosis 1	Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ...	OMIM:603278
Developmental And Epileptic Encephalopathy 66	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, C...	OMIM:618067
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Small for gestational age, Hypoglycemia, Short stature, Postnatal growth retardation, Seizure, Po...	ORPHA:231140
Seckel Syndrome 10	Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Elevated hemoglobin A1c, Elevated ci...	OMIM:617253
Fanconi Anemia, Complementation Group G	Abnormal thumb morphology, Anemia, Growth delay, Neutropenia, Leukemia, Thrombocytopenia	OMIM:614082
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Methylmalonic aciduria, Decreased circulating antibody level, Decrease...	ORPHA:859
Combined Oxidative Phosphorylation Deficiency 52	Renal insufficiency, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration,...	OMIM:619386
Agammaglobulinemia 4, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:613502
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Insulin resistance, Hyperinsulinemia, Seizure, Status epilept...	ORPHA:363400
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu...	OMIM:150550
Laron Syndrome	Hypoplasia of penis, Severe short stature, Hypoglycemia, Short toe, Osteoarthritis, Truncal obesi...	ORPHA:633
Short Chain Acyl-Coa Dehydrogenase Deficiency	Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Seizure, Ethylmalonic aci...	ORPHA:26792
Indolent Systemic Mastocytosis	Hepatomegaly, Maculopapular exanthema, Skin rash, Splenomegaly, Osteoporosis, Lymphadenopathy, In...	ORPHA:98848
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Short stature, Obesity, Growth delay, Fasting hypoglycemia, Abnormal circulating selenium concent...	ORPHA:171706
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Short stature, Hyperinsulinemia, Hypoglycemic seizures, Hyperammonemia, Growth dela...	OMIM:620211
Specific Granule Deficiency 2	Osteopenia, Absent neutrophil specific granules, Sandal gap, Recurrent pneumonia, Anemia, Neutrop...	OMIM:617475
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Short sta...	ORPHA:2968
Pyridoxal Phosphate-Responsive Seizures	Pyridoxine-responsive sideroblastic anemia, Hypoglycemia, Abnormal circulating glycine concentrat...	ORPHA:79096
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Lymphopenia, Hepatomegaly, Recurrent urinary tract infections, Short stature, Recurrent skin infe...	OMIM:620210
Infection-Related Hemolytic Uremic Syndrome	Increased circulating interleukin 6 concentration, Anuria, Hypocalcemia, Nephrotic range proteinu...	ORPHA:544482
Mirage Syndrome	Hyponatremia, Recurrent urinary tract infections, Hypoglycemia, Rocker bottom foot, Hypospadias, ...	OMIM:617053
Glutathione Synthetase Deficiency	Hemolytic anemia, Increased level of L-pyroglutamic acid in urine, Seizure, Neutropenia	OMIM:266130
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula...	ORPHA:436159
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Immunodeficiency By Defective Expression Of Mhc Class Ii	Pancytopenia, Autoimmune hemolytic anemia, Sinusitis, Skin rash, Chronic hepatitis due to cryptos...	ORPHA:572
Lipase Deficiency, Combined	Pancreatitis, Hypertriglyceridemia, Type II diabetes mellitus	OMIM:246650
Cyclic Neutropenia	Cyclic neutropenia	OMIM:162800
Folate Malabsorption, Hereditary	Folate-responsive megaloblastic anemia, Leukopenia, Seizure, Neutropenia, Failure to thrive, Thro...	OMIM:229050
Immunodeficiency, Common Variable, 1	Hepatomegaly, Impaired T cell function, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia...	OMIM:607594
Hyperinsulinemic Hypoglycemia, Familial, 2	Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp...	OMIM:601820
Kaposiform Lymphangiomatosis	Abnormal ischium morphology, Abnormal pelvis bone morphology, Abnormal humerus morphology, Pancre...	ORPHA:464329
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Increased circulating free fatty acid level, Large for gestational age, ...	ORPHA:293964
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Urachal cy...	OMIM:608203
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Elevated hepatic transaminase, Short stature, Hyperlipidemia, Hyperinsulinemia, Obesity, Hypergly...	ORPHA:329249
Isolated Growth Hormone Deficiency, Type Ia	Growth delay, Severe short stature, Hypoglycemia, Prolonged neonatal jaundice	OMIM:262400
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevat...	OMIM:615158
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Small for gestational age, Short stature, Maturity-onset diabetes of the young, Postnatal growth ...	ORPHA:96184
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Short stature, Macroscopic ...	ORPHA:251004
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, El...	OMIM:615559
Short Stature Due To Partial Ghr Deficiency	Growth delay, Hypoglycemia, Short stature, Delayed puberty	ORPHA:314802
Cog7-Cdg	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea...	ORPHA:79333
Whim Syndrome 2	Chronic neutropenia	OMIM:619407
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ...	OMIM:606843
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i...	OMIM:619220
Lysinuric Protein Intolerance	Osteopenia, Decreased HDL cholesterol concentration, Leukopenia, Tubulointerstitial nephritis, Re...	ORPHA:470
Immunodeficiency 46	Chronic oral candidiasis, Intermittent thrombocytopenia, Decreased circulating antibody level, Co...	OMIM:616740
Congenital Disorder Of Glycosylation, Type Iip	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c...	OMIM:616829
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Maternal diabetes, Splenomegaly, Insulin r...	ORPHA:79083
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Femoral bowing, St...	OMIM:615415
Pituitary Hormone Deficiency, Combined, 4	Severe postnatal growth retardation, Pituitary dwarfism, Hypoglycemia, Short stature	OMIM:262700
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Abnormal blood ion concentration, Iron deficiency anemia, Tubulointerstitial nephritis,...	ORPHA:37042
Immunodeficiency 47	Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal...	OMIM:300972
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Immunodeficiency 48	Hepatomegaly, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Eczematoid dermatitis, Fa...	OMIM:269840
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level	OMIM:619549
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H...	ORPHA:247598
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Elevated hepatic transaminase, Ketonuria, Short stature, Ketotic hypoglycemia, Hyperlipidemia, Se...	ORPHA:2089
Infantile Sialic Acid Storage Disease	Osteopenia, Hepatomegaly, Failure to thrive, Cardiomegaly, Conjugated hyperbilirubinemia, Splenom...	OMIM:269920
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Osteoporosis, Osteoly...	ORPHA:100024
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Bilateral tonic-clonic seizure, Large for gestational age, Obesity, Truncal obesity...	OMIM:240900
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl...	OMIM:617514
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatocellular necrosis, Hypoalbuminemia, Hepatic steatosis, Hepatomegaly, Portal hypertension, M...	OMIM:251880
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Glomerulopathy, Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Insulin resi...	ORPHA:2348
Maternal Uniparental Disomy Of Chromosome 1	Hepatomegaly, Pancytopenia, Short stature, Abnormal limb bone morphology, Growth delay, Epiphysea...	ORPHA:251009
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Increased C-peptide level, Large for gestational age, Hyperinsulinemia, Hypoglycemi...	ORPHA:276575
Methylmalonic Acidemia With Homocystinuria Type Cblf	Hypomethioninemia, Skin rash, Unilateral renal agenesis, Megaloblastic anemia, Methylmalonic acid...	ORPHA:79284
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thrive in infancy,...	OMIM:619418
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, P...	OMIM:618398
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Short stature, Neutropenia	OMIM:610798
Mitochondrial Pyruvate Carrier Deficiency	Increased serum pyruvate, Hepatomegaly, Hypoglycemia, Seizure, Organic aciduria	OMIM:614741
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Maternal diabetes, Increased C-peptide level, Large for gestational age, Hyperinsul...	ORPHA:276580
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Reactive hypoglycemia, Increased C-peptide level, Large for gestational age, Hypogl...	ORPHA:276556
Chédiak-Higashi Syndrome	Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal natural killer cell morphology, Hypo...	ORPHA:167
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Seizure, Hypoglycemia	ORPHA:35701
Plin1-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Hepatic f...	ORPHA:280356
Agammaglobulinemia 7, Autosomal Recessive	Erythema nodosum, Agammaglobulinemia, Neutropenia, Reduced natural killer cell count, Panhypogamm...	OMIM:615214
Congenital Generalized Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Insulin resistance, Bone cyst, Hyperinsuli...	ORPHA:528
Granulomatous disease with defect in neutrophil chemotaxis	Impaired neutrophil killing of staphylococci	OMIM:233670
Dihydrolipoamide Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Increased serum pyruvate, Hypoglycemia, Seizure, Dec...	OMIM:246900
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone	Intrauterine growth retardation, Severe short stature, Hypoglycemia	OMIM:223500
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:157
Say-Barber-Miller Syndrome	Short stature, Eczema, Craniosynostosis, Erythema nodosum, Transient hypogammaglobulinemia of inf...	ORPHA:3132
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Increased serum pyruvate, Macrocytic anemia, Splenomegaly, Hyperprolinemia, Status epilepticus, H...	OMIM:619046
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Hepatomegaly, Osteopenia, Hypertriglyceridemia, Elevated circulati...	OMIM:613327
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset trunc...	ORPHA:71529
Citrullinemia Type Ii	Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertrigly...	ORPHA:247585
Pyruvate Dehydrogenase E3 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Increased urine alpha-ketoglutara...	ORPHA:2394
Gracile Bone Dysplasia	Failure to thrive, Short stature, Asplenia, Flared metaphysis, Micropenis, Decreased skull ossifi...	OMIM:602361
Atherosclerosis Susceptibility	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:108725
Combined Malonic And Methylmalonic Acidemia	Elevated hepatic transaminase, Dicarboxylic acidemia, Methylmalonic acidemia, Dicarboxylic acidur...	ORPHA:289504
Lipodystrophy, Familial Partial, Type 3	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista...	OMIM:604367
Combined Oxidative Phosphorylation Deficiency 47	Elevated hepatic transaminase, Hepatomegaly, Toe syndactyly, Hypoglycemia, Cone-shaped epiphyses ...	OMIM:618958
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Abnormality of neuronal migration, Seizure, Abnormality of the liver, Intrauterine ...	ORPHA:1980
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hypoglycemia, Short stature, Hyperlipidemia, Seizure, Hyperuricemia	ORPHA:364
Mucolipidosis Ii Alpha/Beta	Osteopenia, Increased serum beta-hexosaminidase, Cardiomegaly, Metaphyseal widening, Hepatomegaly...	OMIM:252500
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Eleva...	OMIM:256040
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
Morgagni-Stewart-Morel Syndrome	Diabetes mellitus, Acne, Osteoarthritis, Osteoporosis, Obesity, Seizure, Hyperostosis frontalis i...	ORPHA:77296
3-Methylglutaconic Aciduria Type 7	Elevated hepatic transaminase, Renal insufficiency, Renal cyst, Nephrocalcinosis, Growth delay, S...	ORPHA:445038
Fructose And Galactose Intolerance	Seizure, Hypoglycemia	OMIM:229500
Hypertriglyceridemia 1	Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Neonatal death, Hepatomegaly, Portal hypertension, Malformation of th...	OMIM:208540
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Membranoprolife...	OMIM:619644
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Failure to thrive, Skin...	OMIM:300400
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu...	OMIM:619313
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Recurrent bacterial skin infections, Thr...	OMIM:214500
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Minimal change glome...	ORPHA:567548
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Short s...	OMIM:620010
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Lymphadenitis, Renal interstitial immunogl...	ORPHA:449395
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Mac...	ORPHA:398124
Diaphanospondylodysostosis	Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Nephrogenic res...	OMIM:608022
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe...	OMIM:263200
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Hepatomegaly, Osteopenia, Impaired glucose tolerance, Down-sloping shoulders, Coxa va...	OMIM:248370
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Small for gestational age, Short stature, Ski...	OMIM:277380
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartat...	OMIM:255120
Immunodeficiency 8 With Lymphoproliferation	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:615401
Lipodystrophy, Familial Partial, Type 6	Diabetes mellitus, Elevated circulating creatine kinase concentration, Insulin resistance, Hyperl...	OMIM:615980
Whim Syndrome 1	Decreased circulating IgG level, Neutropenia, Bronchiectasis, Decreased circulating antibody level	OMIM:193670
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Anemia, Abnormal bone structure	ORPHA:46532
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Diabetes mellitus, Liver abscess, Cholangitis, Overweight, Intrahe...	ORPHA:69663
Insulin-Resistance Syndrome Type B	Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Leukopenia, Increased circulatin...	ORPHA:2298
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Skin rash,...	OMIM:619924
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hepatomegaly, Hypoglycemia, Increased level of hippuric acid in urine, Glutaric aciduria, Hyperam...	OMIM:246450
Aspergillosis	Sinusitis, Osteomyelitis, Eosinophilia, Abnormality of the kidney, Pneumonia, Keratitis, Increase...	ORPHA:1163
Protoporphyria, Erythropoietic, 1	Hemolytic anemia, Hypertriglyceridemia, Eczema, Cholelithiasis, Hepatic failure	OMIM:177000
Familial Chylomicronemia Syndrome	Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Perianal abscess, Hyperlipidemia, Ja...	ORPHA:444490
Mehmo Syndrome	Small for gestational age, Hypoglycemia, Obesity, Birth length less than 3rd percentile, Seizure,...	OMIM:300148
Schimke Immunoosseous Dysplasia	Osteopenia, Abnormal T cell morphology, Lateral displacement of the femoral head, Neutropenia, De...	OMIM:242900
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating creatine kinase concentration, Cardiomegaly, Red-brown urine, Tubulointersti...	ORPHA:228308
Hypoglycemia, Leucine-Induced	Seizure, Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Lipodystrophy, Familial Partial, Type 4	Insulin-resistant diabetes mellitus, Insulin resistance, Hypertriglyceridemia, Hepatic steatosis	OMIM:613877
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Hypoglycemia, Short stature, Hip dislocation, Nephrocalcinosis, Seizure, Neutropenia,...	OMIM:618005
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Sepsis In Premature Infants	Hepatomegaly, Increased circulating interleukin 6 concentration, Small for gestational age, Eleva...	ORPHA:90051
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Short stature, Splenomegaly, Aminoaciduria, Abnormal metaphysis morphology	ORPHA:417
Endocardial Fibroelastosis	Seizure, Hypoplasia of penis, Sandal gap, Hypoglycemia	ORPHA:2022
Autosomal Agammaglobulinemia	Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Hepatitis, Bronchiectasis, Agamma...	ORPHA:33110
2P21 Microdeletion Syndrome	Hypoglycemia, Nephrolithiasis, Cystinuria, Growth delay, Seizure, Hypocalcemia, Failure to thrive	ORPHA:163693
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Short stature, Splenomegaly, Jaundice, Cholestasis, Reduced bone mineral density, H...	ORPHA:172
Nephronophthisis 16	Renal insufficiency, Stage 5 chronic kidney disease, Cholestasis, Periportal fibrosis, Polycystic...	OMIM:615382
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul...	OMIM:202700
Mody	Large for gestational age, Transient neonatal diabetes mellitus, Renal cyst, Glucose intolerance,...	ORPHA:552
Autoimmune Lymphoproliferative Syndrome, Type Iia	Iron deficiency anemia, Increased circulating IgG level, Increased B cell count, Reduced delayed ...	OMIM:603909
Neutropenia, Lethal Congenital, With Eosinophilia	Neonatal death, Eosinophilia, Neutropenia	OMIM:257100
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hypoglycemia, Renal steatosis, Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis	OMIM:261650
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A...	OMIM:601859
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Hemochromatosis, Neonatal	Hypoglycemia, Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis,...	OMIM:231100
Alstrom Syndrome	Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Chronic act...	OMIM:203800
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr...	OMIM:603471
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Hypoglycemia, Small for gestational age, Short stature, Postnatal growth retardation, Insulin res...	ORPHA:73272
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria, Hypergalactosemia, Failure to ...	OMIM:230350
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated urinary 3-hydroxybutyric acid, Dicarboxylic...	ORPHA:42
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Insulin res...	OMIM:615381
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Sitosterolemia 2	Hypercholesterolemia, Elevated circulating sitosterol concentration	OMIM:618666
Roifman Syndrome	Hip contracture, Epiphyseal dysplasia, Short stature, Eosinophilia, Eczema, Postnatal growth reta...	ORPHA:353298
Ornithine Transcarbamylase Deficiency	Hypoglycemia, Splenomegaly, Hyperammonemia, Aminoaciduria, Hepatic failure	ORPHA:664
Gaisböck Syndrome	Hypertriglyceridemia, Diabetes mellitus, Overweight, Splenomegaly, Increased mean corpuscular hem...	ORPHA:90041
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphadenopathy, Mastocytosis	ORPHA:66661
Hyperlipoproteinemia, Type Id	Hyperlipoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia...	OMIM:615947
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Hypomethioninemia, Methylmalonic aciduria, Hyperhomocystinemia, Growth de...	OMIM:614857
Carnitine Palmitoyl Transferase 1A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Renal tubular acidosis, Seizure, Trans...	ORPHA:156
Cyclic Neutropenia	Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Peritonitis, Cervical...	ORPHA:2686
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Increased bone mineral density, Short stature, Splenomegaly, Abnormal limb bone mor...	ORPHA:2204
Smith-Magenis Syndrome	Hypertriglyceridemia, Short stature, Abnormal renal morphology, Increased body weight, Seizure, A...	OMIM:182290
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Syndactyly, Ketonuria, Large for gestational age, Anemia, Seizure, Aminoaciduria, Bone marrow hyp...	OMIM:614520
Microtriplication 11Q24.1	Short stature, Metatarsus adductus, Hyperlipidemia, Small hand, Obesity, Genu valgum, Short foot,...	ORPHA:289522
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Osteopenia, Aplastic anemia, Eosinophilia, Pneumonia, Recurrent skin infe...	ORPHA:486
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Bilateral tonic-clonic seizure, Myoclonus, Hepatomegaly	ORPHA:139406
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Elevated hepatic transaminase, Short stature, Neutropenia, Steatorrhea, Exocrine pancreatic insuf...	OMIM:618752
Necrotizing Enterocolitis	Hyponatremia, Small for gestational age, Leukocytosis, Peritonitis, Abnormal glucose homeostasis,...	ORPHA:391673
Glycogen Storage Disease Ic	Hepatomegaly, Renal insufficiency, Hypoglycemia, Cyclic neutropenia, Proteinuria, Chronic pancrea...	OMIM:232240
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Obesity, Decreased p...	ORPHA:66628
Shwachman-Diamond Syndrome 2	Normocytic anemia, Hepatomegaly, Failure to thrive, Short stature, Exocrine pancreatic insufficie...	OMIM:617941
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating IgG level, Recurrent skin infections, Increased circulating IgE level, Recu...	OMIM:619752
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Metaphyseal chondrodysplasia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Immunodeficiency 21	Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ...	OMIM:614172
Cohen Syndrome	Short metacarpal, Small for gestational age, Short stature, Tapered finger, Short metatarsal, Gen...	OMIM:216550
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili...	ORPHA:567983
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, Hepatomegaly, Perianal abscess, ...	OMIM:612541
Peroxisome Biogenesis Disorder 6A (Zellweger)	Hepatomegaly, Renal cyst, Epiphyseal stippling, Seizure, Decreased liver function, Neonatal death...	OMIM:614870
Spinocerebellar Ataxia, Autosomal Recessive 23	Hyponatremia, Seizure, Neutropenia	OMIM:616949
Hemochromatosis, Type 4	Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce...	OMIM:606069
Roifman Syndrome	Hip contracture, Short metacarpal, Hepatomegaly, Short stature, Eosinophilia, Eczema, Postnatal g...	OMIM:616651
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Duplicated collecting system, Hypoglycemia, Elevated circulating aspartate aminotransferase conce...	OMIM:617093
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Obesity, Decreased p...	ORPHA:179494
Classic Galactosemia	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Abnormal erythrocyte enzyme level, Jau...	ORPHA:79239
Mandibuloacral Dysplasia	Hypertriglyceridemia, Increased circulating free fatty acid level, Postnatal growth retardation, ...	ORPHA:2457
Congenital Rubella Syndrome	Hepatomegaly, Short stature, Skin rash, Splenomegaly, Jaundice, Anemia, Seizure, Type I diabetes ...	ORPHA:290
Majeed Syndrome	Hepatomegaly, Increased bone mineral density, Glomerulopathy, Proteinuria, Acne, Cachexia, Congen...	ORPHA:77297
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Reticulocytopenia, 3-Methylglutaric aciduria, Renal Fanconi syndrome, Compl...	OMIM:557000
Sandhoff Disease	Splenomegaly, Failure to thrive, Seizure, Hepatomegaly	ORPHA:796
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Impaired glucose tolerance, Short stature, Splenomegaly, Postaxial hand polydactyly...	OMIM:615630
Pyruvate Carboxylase Deficiency	Increased serum pyruvate, Hepatomegaly, Hypoglycemia, Proximal renal tubular acidosis, Seizure, H...	OMIM:266150
Pearson Syndrome	Renal cyst, Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Reticulocytos...	ORPHA:699
Combined Oxidative Phosphorylation Deficiency 41	Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr...	OMIM:618838
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Ketonuria, Hypoglycemia, Elevated circulating alanine aminotransferase concentratio...	OMIM:261680
Galloway-Mowat Syndrome 7	Hallux valgus, Diffuse mesangial sclerosis, Arachnodactyly, Proteinuria, Short stature, Minimal c...	OMIM:618348
Congenital Disorder Of Glycosylation, Type Iif	Proteinuria, Macrothrombocytopenia, Seizure, Aminoaciduria, Neutropenia, Clinodactyly, Decreased ...	OMIM:603585
Pyridoxine-Dependent Epilepsy	Early onset absence seizures, Epileptic spasm, Hypoglycemia, Focal-onset seizure, Seizure, Status...	ORPHA:3006
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Nephro...	ORPHA:85445
Homozygous 11P15-P14 Deletion Syndrome	Hypoglycemia, Hyperinsulinemia, Generalized aminoaciduria, Renal tubular dysfunction, Failure to ...	OMIM:606528
Shigellosis	Abnormal blood ion concentration, Uveitis, Conjunctivitis, Acute colitis, Hyponatremia, Abscess, ...	ORPHA:810
Immunodeficiency 76	Splenomegaly, Recurrent pneumonia, Lymphadenopathy, Growth delay, T lymphocytopenia, Colitis, B l...	OMIM:619164
Autoinflammatory Disease, Systemic, X-Linked	Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated...	OMIM:301081
Citrullinemia, Type Ii, Neonatal-Onset	Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st...	OMIM:605814
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Reduced haptoglobin level, Thrombocytopenia, Spleno...	OMIM:210250
Smith-Kingsmore Syndrome	Hypoglycemia, Rhizomelia, Large for gestational age, Short proximal phalanx of finger, Wide anter...	OMIM:616638
Lymphoid Interstitial Pneumonia	Hepatomegaly, Skin rash, Eczema, Mediastinal lymphadenopathy, Clubbing, Bronchiectasis, Weight lo...	ORPHA:79128
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Seizure, Neutropenia	OMIM:610738
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Insulin resistance, Insulin-...	ORPHA:79086
Fanconi Anemia, Complementation Group I	Short stature, Absent thumb, Short thumb, Hypoplasia of the radius, Abnormal renal morphology, Re...	OMIM:609053
Dysbetalipoproteinemia	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Decreased HDL choleste...	ORPHA:412
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Large for gestational age, Abnormal cir...	ORPHA:263455
Smith-Magenis Syndrome	Toe syndactyly, Hypertriglyceridemia, Failure to thrive in infancy, Short stature, Renal hypoplas...	ORPHA:819
3-Methylglutaconic Aciduria, Type Viib	Rhizomelia, Thrombocytopenia, Recurrent pneumonia, Growth delay, Leukopenia, Seizure, 3-Methylglu...	OMIM:616271
Activated Pi3K-Delta Syndrome	Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Decreased circulati...	ORPHA:397596
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne...	OMIM:233600
Chylomicron Retention Disease	Elevated hepatic transaminase, Hypertriglyceridemia, Acanthocytosis, Steatorrhea, Growth delay, H...	ORPHA:71
Diarrhea 13	Elevated hepatic transaminase, Recurrent hypoglycemia, Hypoalbuminemia, Failure to thrive, Hepati...	OMIM:620357
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Hemolytic anemia, Decreased HDL cholester...	ORPHA:650
Nephrotic Syndrome, Type 2	Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ...	OMIM:600995
Diamond-Blackfan Anemia 11	Hypoplasia of the ulna, Short stature, Anemia of inadequate production, Absent thumb, Unilateral ...	OMIM:614900
Hyperparathyroidism, Transient Neonatal	Osteopenia, Short femur, Metaphyseal spurs, Unilateral renal agenesis, Femoral bowing, Short long...	OMIM:618188
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Osteopenia, Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenome...	OMIM:612714
Ataxia-Pancytopenia Syndrome	Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto...	OMIM:159550
Alpha-Heavy Chain Disease	Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Growth delay, Hypocalcemia, As...	ORPHA:100025
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11	Clinodactyly of the 5th finger, Intrauterine growth retardation, Hypoglycemia, Small for gestatio...	ORPHA:231147
9Q31.1Q31.3 Microdeletion Syndrome	Short stature, Tapered finger, Overweight, Small hand, Renovascular hypertension, Type II diabete...	ORPHA:401923
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic ...	OMIM:251100
Lysosomal Acid Lipase Deficiency	Bone-marrow foam cells, Renal salt wasting, Microvesicular hepatic steatosis, Vacuolated lymphocy...	ORPHA:275761
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno...	ORPHA:507
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Arachnodactyly, Proteinuria, Minimal change glomerulonephritis, Part...	OMIM:616730
Congenital Disorder Of Glycosylation, Type Iil	Impaired T cell function, Elevated circulating creatine kinase concentration, Inflammation of the...	OMIM:614576
Fish-Eye Disease	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:136120
Galactose Epimerase Deficiency	Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Growth delay, Aminoaciduria	ORPHA:79238
Hyperinsulinism-Hyperammonemia Syndrome	Increased urine alpha-ketoglutarate concentration, Generalized-onset seizure, Reactive hypoglycem...	ORPHA:35878
Spondyloenchondrodysplasia With Immune Dysregulation	Metaphyseal dysplasia, Short stature, Pneumonia, Autoimmune thrombocytopenia, Short iliac bones, ...	OMIM:607944
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Elevated hepatic transaminase, Increased serum pyruvate, Hypoglycemia, Small for gestational age,...	OMIM:615160
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Congenital Enterovirus Infection	Abnormal macrophage morphology, Skin rash, Fetal ascites, Myocarditis, Leukocytosis, Hepatitis, C...	ORPHA:292
Combined Oxidative Phosphorylation Deficiency 10	Failure to thrive, Hypoglycemia, Small for gestational age, Cardiomegaly, Hyperammonemia, Seizure...	OMIM:614702
Congenital Disorder Of Glycosylation, Type Iie	Hepatomegaly, Neurogenic bladder, Hypoglycemia, Elevated circulating aspartate aminotransferase c...	OMIM:608779
Diamond-Blackfan Anemia 7	Osteopenia, Macrocytic anemia, Short thumb, Osteoporosis, Horseshoe kidney, Growth delay, Increas...	OMIM:612562
Combined Oxidative Phosphorylation Deficiency 40	Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr...	OMIM:618835
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopa...	ORPHA:829
Combined Oxidative Phosphorylation Deficiency 42	Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr...	OMIM:618839
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Recurrent urinary tract infections, Cholangitis, Biliary tract abnormality, Chro...	OMIM:209920
Abdominal Obesity-Metabolic Syndrome 4	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ...	OMIM:618620
Glucocorticoid Deficiency 3	Recurrent hypoglycemia	OMIM:609197
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Wide anterior fontanel, Nephroblastoma, Enlarged kidney, Large for gestational age	OMIM:618272
Propionic Acidemia	Hepatomegaly, Organic aciduria, Hypoglycemia, Hyperammonemia	ORPHA:35
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Recurrent aphthous stoma...	ORPHA:2688
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia	OMIM:615863
Poikiloderma With Neutropenia	Short stature, Elevated circulating creatine kinase concentration, Skin rash, Splenomegaly, Recur...	OMIM:604173
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Failure to thrive, Sinusitis, Inflammatory abnormality of the skin, Absence of lymph node germina...	ORPHA:277
Immunodeficiency 23	Hemolytic anemia, Failure to thrive, Membranoproliferative glomerulonephritis, Abscess, Eosinophi...	OMIM:615816
Lissencephaly Syndrome, Norman-Roberts Type	Rocker bottom foot, 4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephal...	ORPHA:89844
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decrea...	OMIM:619705
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,...	OMIM:619662
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Seizure, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,...	OMIM:602088
Cartilage-Hair Hypoplasia	Metaphyseal chondrodysplasia, Tibial bowing, Hypocalcemia, Short palm, Neutropenia, Abnormal bone...	ORPHA:175
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypoglycemia, Elevated circulati...	ORPHA:26791
Hyperlipoproteinemia, Type I	Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati...	OMIM:238600
Neonatal Alloimmune Neutropenia	Pneumonia, Jaundice, Neutropenia in presence of anti-neutropil antibodies, Maternal diabetes	ORPHA:464370
Purine Nucleoside Phosphorylase Deficiency	Increased circulating inosine concentration, Autoimmune hemolytic anemia, Failure to thrive, Hypo...	OMIM:613179
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami...	OMIM:615558
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Seizure, Pancreatic islet-cell hy...	ORPHA:276608
Griscelli Syndrome	Hepatomegaly, Short stature, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Decre...	ORPHA:381
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Hepatic cysts,...	ORPHA:730
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:245400
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Ketonuria, Hyperammonemia, Methylmalonic acid...	OMIM:251110
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Short stature, Coxa val...	OMIM:618150
Hermansky-Pudlak Syndrome 2	Hepatomegaly, Absent platelet dense granules, Chronic oral candidiasis, Decreased CD4:CD8 ratio, ...	OMIM:608233
Schnitzler Syndrome	Hepatomegaly, Increased bone mineral density, Skin rash, Splenomegaly, Leukocytosis, Lymphadenopa...	ORPHA:37748
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Hepatomegaly, Chilblains, Splenomegaly, Intrauterine growth retardation, Thromb...	OMIM:615010
Congenital Toxoplasmosis	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Jaundice...	ORPHA:858
Alg12-Cdg	Proximal placement of thumb, Recurrent hypoglycemia, Hypoalbuminemia, Hypocholesterolemia, Clinod...	ORPHA:79324
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Pancreatic fibrosis, Craniosynostosis, Postaxial hand polydactyly, Hepatic fibrosis...	OMIM:200995
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Short stature, Eczema, Autoimmune thrombocytopenia, Neutropenia in p...	OMIM:615952
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Hypoglycemia, ...	OMIM:616026
Ataxia-Telangiectasia	Elevated hepatic transaminase, Failure to thrive, Diabetes mellitus, Short stature, Decreased cir...	ORPHA:100
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly	OMIM:606445
Neuraminidase Deficiency	Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Short stature, Bone-...	OMIM:256550
Werner Syndrome	Diabetes mellitus, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentr...	OMIM:277700
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Diabetes mellitus, S...	ORPHA:280365
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Hyponatremia, Macrocytic anemia, Decreased circulating cortisol level, Hypogly...	ORPHA:199299
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Increased bone mineral density, Femur fracture, Osteomyelitis, Cranio...	OMIM:259700
Fusariosis	Brain abscess, Fasciitis, Lung abscess, Sinusitis, Abnormality of the kidney, Myositis, Maculopap...	ORPHA:228119
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Micronodular ci...	ORPHA:98907
Body Mass Index Quantitative Trait Locus 19	Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity	OMIM:617885
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Increased circulating interleukin 6 concentration, Proteinuria, E...	OMIM:614034
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenom...	OMIM:616860
Acquired Aneurysmal Subarachnoid Hemorrhage	Leukocytosis, Seizure, Left ventricular hypertrophy, Hypercholesterolemia, Hyperglycemia	ORPHA:90065
Meckel Syndrome, Type 8	Hyperechogenic kidneys, Polydactyly, Polycystic kidney dysplasia, Enlarged kidney	OMIM:613885
Cinca Syndrome	Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, ...	ORPHA:1451
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Eczema, Neutropenia	OMIM:300299
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Wide anterior fontanel, Jaundice, Glutaric aciduria, Generalized amin...	OMIM:231680
Dyskeratosis Congenita, Autosomal Dominant 2	Urethral stricture, Pancytopenia, Aplastic anemia, Short stature, Osteoporosis, Leukopenia, Hepat...	OMIM:613989
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia	OMIM:301033
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hepatic steatosis, Pancr...	ORPHA:435651
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hepa...	ORPHA:79085
Intellectual Developmental Disorder, Autosomal Recessive 41	Hepatomegaly, Generalized-onset seizure, Bilateral tonic-clonic seizure, Splenomegaly, Recurrent ...	OMIM:615637
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Metaphyseal dysplasia, Pancytopenia, Congenital hip dislocation, Aplastic...	OMIM:617052
3-Methylcrotonyl-Coa Carboxylase Deficiency	Hypoglycemia, Failure to thrive in infancy, Hyperammonemia, Abnormal circulating leucine concentr...	ORPHA:6
Agammaglobulinemia, X-Linked	T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circulating ...	OMIM:300755
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:233710
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Elevated hepatic transaminase, Small for gestational age, Hypospadias, Hyperammonemia, Short foot...	OMIM:615471
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Inflammatory abnormality of the skin, Diabetes mellitus, Elevated circulating creat...	ORPHA:565612
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Decreased HDL cholesterol concentration, Hepatomegaly, Short stature, Autoimmune thro...	ORPHA:77293
Leprechaunism	Hepatomegaly, Enlarged ovaries, Postnatal growth retardation, Insulin resistance, Long penis, Hyp...	ORPHA:508
Peroxisome Biogenesis Disorder 8A (Zellweger)	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Epiphyseal...	OMIM:614876
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hypertriglyceridemia, Diabetic ketoacidosis, Hepatic steatosis, Increased C-peptide...	OMIM:615238
Acute Generalized Exanthematous Pustulosis	Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Renal insufficiency,...	ORPHA:293173
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Proteinuria, Heparan sulfate excretion in urine, Thrombocytopenia, Hepatosplenomegaly, Leukopenia...	ORPHA:505248
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:233690
Mandibuloacral Dysplasia With Type B Lipodystrophy	Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Stage 5 chronic kidney dis...	OMIM:608612
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Abnormal circulating acylcarnitine concentr...	ORPHA:71212
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Recurrent urinary tract infections,...	OMIM:618495
19P13.12 Microdeletion Syndrome	Short palm, Finger syndactyly, Sandal gap, Hypospadias, Craniosynostosis, Hyperlipidemia, Obesity...	ORPHA:254346
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased proportion of naive T cells, Recurrent cutaneous fungal infections, Increased circulati...	ORPHA:276
Omenn Syndrome	Hepatomegaly, Failure to thrive, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Short toe, ...	ORPHA:39041
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Neutropenia, Glomerulopathy, Ketonu...	ORPHA:79282
Diamond-Blackfan Anemia 8	Macrocytic anemia, Short stature, Growth delay, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Seizure, Hypoalbuminemia	ORPHA:94124
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Prominent fingertip pads, Hypoglycemia, Short stature, Small for gestational age, Postnatal growt...	ORPHA:231137
Fanconi Anemia, Complementation Group A	Duplicated collecting system, Pancytopenia, Small for gestational age, Short stature, Renal agene...	OMIM:227650
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Increased circulating ...	OMIM:247800
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Anemia, Radioulnar synostosis, Short middle phalanx of the 4th finger, Neutropenia, Overlapping f...	OMIM:616738
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Diabetes mellitus, Hypoglycemia, Down-sloping shoulders, Small for gestational age, Deviation of ...	ORPHA:391408
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Elevated circulating C-reactive protein concentration, Hepatic steatosis, Dec...	OMIM:619573
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ...	ORPHA:79303
Fanconi Anemia, Complementation Group E	Duplicated collecting system, Pancytopenia, Small for gestational age, Short stature, Renal agene...	OMIM:600901
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperlipidemia, Mildly elevated creatine kinase, Hyperglycemia	OMIM:604484
Silver-Russell Syndrome 1	Syndactyly, Urethral valve, Small for gestational age, Hypospadias, Abnormality of the ureter, Sh...	OMIM:180860
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Increased circulating ferritin concent...	OMIM:613313
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Conjugated ...	OMIM:607765
Combined Oxidative Phosphorylation Deficiency 36	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Aciduria, Elevated c...	OMIM:617950
Bone Marrow Failure Syndrome 6	Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellu...	OMIM:618849
Farber Lipogranulomatosis	Osteolysis involving bones of the feet, Hyperextensibility of the finger joints, Hepatomegaly, Sp...	OMIM:228000
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio...	OMIM:212140
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili...	OMIM:237800
Leigh Syndrome	Complex organic aciduria, Neutropenia, Renal tubular dysfunction, Nephrotic syndrome, Seizure, 3-...	ORPHA:506
Aredyld Syndrome	Hepatomegaly, Craniofacial hyperostosis, Short stature, Cachexia, Splenomegaly, Abnormality of th...	ORPHA:1133
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Syndactyly, Hepatomegaly, Short stature, Anisocytosis, Anemia of inadequate prod...	OMIM:615631
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Autoimmune Lymphoproliferative Syndrome	Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Increased B cell count, Decreas...	ORPHA:3261
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Renal dysplasia, Hypoplasia of the ulna, Short stature, Metaphyseal spurs, Postaxial polydactyly,...	OMIM:613091
Immunodeficiency, Common Variable, 2	Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia...	OMIM:240500
Transcobalamin Ii Deficiency	Hepatomegaly, Macrocytic anemia, Pancytopenia, Failure to thrive, Erythroid hypoplasia, Reticuloc...	OMIM:275350
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, O...	ORPHA:79301
Fanconi Anemia, Complementation Group V	Short stature, Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marro...	OMIM:617243
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Seizure, Hypoalbuminemia	OMIM:607250
Aromatase Deficiency	Eunuchoid habitus, Osteopenia, Enlarged polycystic ovaries, Insulin resistance, Delayed epiphysea...	ORPHA:91
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Severe B lymphocytopenia, Sinusitis, Hepatomegaly, Autoimmune thromb...	OMIM:102700
Temple Syndrome	Small for gestational age, Short stature, Postnatal growth retardation, Small hand, Obesity, Shor...	ORPHA:254516
Acute Promyelocytic Leukemia	Pancytopenia, Leukocytosis, Weight loss, Anemia, Leukopenia, Hematuria, Lymphadenopathy, Neutrope...	ORPHA:520
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Eczema, Anemia of inadequate production, Megaloblastic anemia, R...	OMIM:617780
Felty Syndrome	Splenomegaly, Rheumatoid arthritis, Neutropenia	OMIM:134750
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Lymphopenia, Chronic oral candidiasis, Eosinophilia, Pneumonia, Recurrent pneumonia, Hepatitis, E...	ORPHA:169160
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Hypoglycemia, Pancreatitis, Hyperammonemia	OMIM:620137
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	OMIM:616516
Lipe-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Insulin r...	ORPHA:435660
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:600649
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Elevated circulating C-react...	OMIM:613011
Vici Syndrome	Lymphopenia, Failure to thrive, Left ventricular hypertrophy, Elevated circulating creatine kinas...	OMIM:242840
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Ketonuria, Large for gestational age, Multiple pancreatic beta-cell adenomas, Decreased circulati...	ORPHA:79644
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Short stature, Hypoglycemia, Elevated circulating creatine kinase concentration, Bilateral tonic-...	OMIM:618120
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent pneumonia, Bronchiectasis, Chro...	OMIM:614868
Fanconi Anemia, Complementation Group C	Duplicated collecting system, Pancytopenia, Small for gestational age, Short stature, Renal agene...	OMIM:227645
Immunodeficiency 95	Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level, Recurrent viral ...	OMIM:619773
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Hypoglycemia, Camptodactyly of finger, Short stature, Osteoporosis, Intrauterine growth retardation	ORPHA:48431
3-Methylglutaconic Aciduria, Type Viia	Generalized-onset seizure, Bilateral tonic-clonic seizure, Anisopoikilocytosis, Myoclonic seizure...	OMIM:619835
Beta-Ketothiolase Deficiency	Hepatomegaly, Ketonuria, Hypoglycemia, Leukocytosis, Hyperammonemia, Weight loss, Seizure, Hyperu...	ORPHA:134
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Angular cheilitis, Megaloblastic a...	ORPHA:35858
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Elevated hepatic transaminase, Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimm...	ORPHA:331206
Fanconi-Bickel Syndrome	Fasting hypoglycemia, Hepatomegaly, Ketonuria, Hypouricemia, Elevated circulating aspartate amino...	OMIM:227810
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Weight loss,...	ORPHA:3226
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Functional abnormality of the bladder, T lymphocytopenia, Infectious encephalitis, Sh...	ORPHA:391487
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Diabetes m...	OMIM:608594
Trichothiodystrophy 3, Photosensitive	Lymphopenia, Short stature, Increased circulating IgA level, Abdominal adhesions, Neutropenia, In...	OMIM:616395
Glycerol Kinase Deficiency	Hypertriglyceridemia, Small for gestational age, Hypoglycemia, Hyperglycerolemia, Chronic pancrea...	OMIM:307030
Alpha-Mannosidosis	Hepatomegaly, Bowing of the long bones, Craniofacial hyperostosis, Splenomegaly, Arthritis, Hip d...	ORPHA:61
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc...	ORPHA:882
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia...	OMIM:602450
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Failure to thrive, Short femur, Sandal gap, Hypoglycemia, Small for gestational ag...	OMIM:607143
Distal Myopathy, Tateyama Type	Hypercholesterolemia, Abnormal circulating creatine kinase concentration	ORPHA:488650
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Acne, Paradoxical increased cortisol secretion on dexamethasone...	ORPHA:189427
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Short palm, Macrocytic anemia, Metaph...	OMIM:250250
Fanconi Anemia, Complementation Group D2	Ectopic kidney, Reticulocytopenia, Aplasia of the 1st metacarpal, Neutropenia, Micropenis, Pelvic...	OMIM:227646
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Short stature, Splenomegaly, Myoclonus, Decreased body weight, Genera...	OMIM:231000
Immunodeficiency 54	Hepatomegaly, Short stature, Postnatal growth retardation, Splenomegaly, Lymphadenopathy, Intraut...	OMIM:609981
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:306400
Infantile Liver Failure Syndrome 1	Long toe, Acute hepatic failure, Macrocytic anemia, Hepatomegaly, Elevated hepatic transaminase, ...	OMIM:615438
Congenital Disorder Of Glycosylation, Type Iir	Decreased proportion of CD4-positive T cells, Hepatomegaly, Elevated hepatic transaminase, Hyposp...	OMIM:301045
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Cystic ang...	OMIM:269700
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Short humerus, Short metacarpal, Short stature, Eczema, Thrombocytopenia, Reticulocytopenia, Leuk...	ORPHA:508542
Nephrotic Syndrome, Type 1	Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Small for gestat...	OMIM:256300
Peroxisome Biogenesis Disorder 3A (Zellweger)	Hepatomegaly, Wide anterior fontanel, Epiphyseal stippling, Seizure, Polycystic kidney dysplasia,...	OMIM:614859
Beta-Thalassemia Intermedia	Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,...	ORPHA:231222
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly	OMIM:607685
Aicardi-Goutieres Syndrome 4	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Seiz...	OMIM:610333
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Hypoglycemia, Hyperammonemia, Seizure, 3-Methylglutaconic aciduria, Hyperalaninemia, Failure to t...	OMIM:614739
Mitochondrial Complex Iii Deficiency, Nuclear Type 9	Postnatal growth retardation, Hypoglycemia	OMIM:616111
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Acute hepatic failure, Pancytopenia, Failure to thrive in infancy, Cholangitis, Portal hypertensi...	ORPHA:228426
Beckwith-Wiedemann Syndrome	Ureteral duplication, Neonatal hypoglycemia, Cardiomegaly, Large for gestational age, Vesicourete...	ORPHA:116
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Nonketotic hypoglycemia, Ketonur...	ORPHA:20
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:228305
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Chronic neutropenia, Larg...	ORPHA:500095
Letterer-Siwe Disease	Seborrheic dermatitis, Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Stomatitis, Thrombocyto...	OMIM:246400
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Epiphyseal dysplasia, Brachydactyly, Metaphyseal dysplasia, Eosinophilia, Coxa valga, Disproporti...	OMIM:617425
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Hepatomegaly, Neutrophilia, Failure to thrive in infancy, Abscess, Elevated circulati...	OMIM:612852
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Nonketotic hypoglycemia, Hepatomegaly, Necrotizing enterocolitis, Dicarboxylic aciduria, Bilatera...	OMIM:201475
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	T lymphocytopenia, Recurrent aspiration pneumonia, Hepatomegaly, Portal hypertension, Hepatosplen...	ORPHA:79124
Lipodystrophy, Familial Partial, Type 2	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Decreased HDL cholesterol concentration, ...	OMIM:151660
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated hepatic transaminase, Hepatomegaly, Osteopenia, Hypertriglyceridemia, Sandal gap, Elevat...	OMIM:619127
Rothmund-Thomson Syndrome	Calcinosis, Hypoplasia of the ulna, Broad ulna, Osteopenia, Aplastic anemia, Small for gestationa...	ORPHA:2909
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Megaloblastic anemia...	OMIM:277400
Methanol Poisoning	Type I diabetes mellitus, Seizure, Hyperlipidemia, Type II diabetes mellitus	ORPHA:31825
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Seizure, Cholestatic liver disease, Failure to thrive, Hypoketotic hy...	ORPHA:5
Immunodeficiency 55	Absent natural killer cells, Short stature, Recurrent skin infections, Eczema, Postnatal growth r...	OMIM:617827
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Eosinophilia, Absces...	ORPHA:400
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Small for gestational age, Short stature, Insulin-resistant diabetes mellitus, Long...	OMIM:262190
Babesiosis	Hemolytic anemia, Hepatomegaly, Renal insufficiency, Splenomegaly, Thrombocytopenia, Jaundice, Le...	ORPHA:108
Amyloidosis, Familial Visceral	Hepatomegaly, Proteinuria, Skin rash, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, N...	OMIM:105200
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Hepatomegaly, Ketonuria, Elevated circulating creatine kinase concentration, Microcytic anemia, H...	OMIM:251900
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Schistocytosis, Elevated circ...	OMIM:235400
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Osteopenia, Hypertriglyceridemia, Bilateral tonic-clonic seizure, Hypercalcemia, Craniosynostosis...	ORPHA:369837
Muckle-Wells Syndrome	Episcleritis, Hepatomegaly, Short stature, Camptodactyly of finger, Skin rash, Splenomegaly, Uvei...	ORPHA:575
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Abnormality of the kid...	ORPHA:54251
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Autoimmune hemolytic anemia, Hepatomegaly, Atrophic gastritis, Psoriasiform dermatit...	OMIM:616100
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Cachexia, Splenomegaly, Growth delay, Ascites, Steatorrhea,...	ORPHA:75233
Isobutyryl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria, Ketotic hypoglycemia, De...	ORPHA:79159
Ogden Syndrome	Congenital hip dislocation, Generalized-onset seizure, Maternal diabetes, Cardiomegaly, Microvesi...	OMIM:300855
Analbuminemia	Osteoporosis, Elevated circulating transferrin concentration, Increased LDL cholesterol concentra...	OMIM:616000
Hsd10 Mitochondrial Disease	Seizure, Elevated circulating tiglylglycine concentration, Hypoglycemia	OMIM:300438
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,...	OMIM:617388
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Small for gestational age, Down-sloping shoulders, Short stature, Renal hypoplasia, Growth delay,...	OMIM:616817
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
Maple Syrup Urine Disease	Increased level of hippuric acid in urine, Hypoglycemia, Elevated circulating branched chain amin...	OMIM:248600
Slc35A1-Cdg	Pneumonia, Giant platelets, Neutropenia, Abnormal platelet granules, Thrombocytopenia	ORPHA:238459
Hypotonia-Cystinuria Syndrome	Postnatal growth retardation, Nephrolithiasis, Cystinuria, Seizure, Hypocalcemia, Failure to thri...	OMIM:606407
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Decreased ...	OMIM:619281
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis,...	OMIM:615122
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Macrocytic anemia, Renal insufficiency, Hyperammonemia, Anemia, Leukopenia, Seizure...	ORPHA:27
Alg9-Cdg	Hepatomegaly, Hypoplasia of the bladder, Rhizomelia, Ureteral hypoplasia, Wide anterior fontanel,...	ORPHA:79328
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Proteinuria, Conjugated hyperb...	OMIM:613404
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Reduced bone mineral density, Hypoalbuminemia, Hypocalcemia, Hepatic steatosis, Short...	OMIM:613658
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de...	OMIM:616278
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hyperammonemia, Ketonuria, Hypoglycemia, Acute hepatic steatosis, Seizure, Elevated urinary...	OMIM:210200
Osteopetrosis, Autosomal Recessive 5	Extramedullary hematopoiesis, Generalized-onset seizure, Hypocalcemia, Hepatomegaly, Increased bo...	OMIM:259720
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Aicardi-Goutieres Syndrome 9	Hepatic fibrosis, Hypoalbuminemia, Micropenis, Hepatic steatosis, Hemolytic anemia, Hepatomegaly,...	OMIM:619487
Sialidosis Type 2	Hepatomegaly, Short stature, Splenomegaly, Osteoporosis, Seizure, Nephropathy, Ascites	ORPHA:87876
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Renal insufficiency, Hyperammonemia, Failure to thrive, Anemia	ORPHA:28
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Hypoglycemia, Elevated circul...	OMIM:212138
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Kikuchi-Fujimoto Disease	Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Skin rash, Elevated cir...	ORPHA:50918
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Hepatitis, Cholestasis, Obesity, Increased LDL cholesterol concentration, A...	ORPHA:209902
Beta-Thalassemia Major	Extramedullary hematopoiesis, Hepatic fibrosis, Hepatomegaly, Anemia of inadequate production, Os...	ORPHA:231214
Reticular Dysgenesis	Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl...	OMIM:267500
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly	ORPHA:86893
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotr...	OMIM:614921
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Multifocal seizures, Hypoglycemia, Seizure, Intrauterine growth retardation, Thrombocytopenia	OMIM:617710
Hermansky-Pudlak Syndrome 10	Hepatomegaly, Bilateral tonic-clonic seizure, Splenomegaly, Neutropenia, Focal myoclonic seizure	OMIM:617050
Galactosemia I	Hemolytic anemia, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, El...	OMIM:230400
Gaucher Disease Type 1	Osteopenia, Hepatomegaly, Pancytopenia, Increased bone mineral density, Proteinuria, Hypersplenis...	ORPHA:77259
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria, Hypoglycemia	OMIM:615026
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Short stature, Splenomegaly, Enlarged tonsils, Bronchiectasis, C...	OMIM:616005
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Proximal placement of thumb, Absent radius, Urethral atresia, Hand polydactyly, Ne...	OMIM:314390
D-Glyceric Aciduria	Hypoglycemia, Bilateral tonic-clonic seizure, Nonketotic hyperglycinemia, Growth delay, Seizure, ...	OMIM:220120
Cohen Syndrome	Finger syndactyly, Arachnodactyly, Sandal gap, Failure to thrive in infancy, Tapered finger, Shor...	ORPHA:193
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi...	OMIM:613673
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm...	OMIM:619375
Peroxisome Biogenesis Disorder 7A (Zellweger)	Hepatomegaly, Elevated circulating hexacosanoic acid concentration, Wide anterior fontanel, Jaund...	OMIM:614872
Classic Mycosis Fungoides	Hepatomegaly, Skin rash, Eczema, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte morphology	ORPHA:2584
Selective Igm Deficiency	Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo...	ORPHA:331235
Symptomatic Form Of Hfe-Related Hemochromatosis	Abnormal metacarpophalangeal joint morphology, Hepatomegaly, Cholangiocarcinoma, Diabetes mellitu...	ORPHA:465508
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hallux valgus, Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Short stature, Portal hy...	OMIM:613385
Rothmund-Thomson Syndrome Type 1	Calcinosis, Osteopenia, Short metacarpal, Abnormal trabecular bone morphology, Aplastic anemia, S...	ORPHA:221008
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Cardiomegaly, Splenomegaly, Incre...	OMIM:235200
Timothy Syndrome	Hypoglycemia, Pneumonia, Cardiomegaly, Cutaneous syndactyly, Seizure, Hypocalcemia	OMIM:601005
Xp21 Deletion Syndrome	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Osteoporosis, Reduced b...	ORPHA:261476
Cholestasis, Progressive Familial Intrahepatic, 5	Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, E...	OMIM:617049
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Splenomegaly, Leukocytosis...	OMIM:612840
Immunodeficiency 85 And Autoimmunity	Lymphopenia, Failure to thrive in infancy, Eczema, Oligoarthritis, Growth delay, T lymphocytopeni...	OMIM:619510
Niemann-Pick Disease, Type A	Hepatomegaly, Failure to thrive, Short stature, Elevated circulating aspartate aminotransferase c...	OMIM:257200
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Nonketotic hypoglycemia, Elevated hepatic transaminase, Dicarboxylic acidu...	ORPHA:99901
Addison Disease	Normocytic anemia, Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hypercalcemi...	ORPHA:85138
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Syndactyly, Hepatomegaly, Small for gestational age, Anemia of...	OMIM:224120
Hemochromatosis, Type 2A	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Arthritis, Increased se...	OMIM:602390
Aapoaiv Amyloidosis	Diabetes mellitus, Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid dep...	ORPHA:439232
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Multifocal seizures, Hypoglycemia, Tapered finger, Hip dislocation, Obesity, Hepato...	OMIM:301066
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Insulin-resistant diabetes mellitus, Insulin resistance, Enlarged ki...	ORPHA:90301
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Congenital Disorder Of Glycosylation, Type Ie	Short palm, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating creatine kinase con...	OMIM:608799
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Weight loss, Lymphadenopathy, Arthritis, Infectious encephalitis	ORPHA:42642
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Hypoglycemia, Pelvic mass, Reduced C-peptide level, Weight loss, ...	ORPHA:2126
Silver-Russell Syndrome Due To A Point Mutation	Syndactyly, Hypoglycemia, Small for gestational age, Hypospadias, Postnatal growth retardation, S...	ORPHA:397590
Pmm2-Cdg	Elevated hepatic transaminase, Osteopenia, Pericarditis, Proteinuria, Long fingers, Insulin resis...	ORPHA:79318
Orthostatic Hypotension 2	Hypoglycemia, Anemia, Decreased glomerular filtration rate	OMIM:618182
Intellectual Developmental Disorder, Autosomal Dominant 45	Skin rash, Arachnodactyly, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur...	OMIM:617600
Bone Dysplasia, Lethal Holmgren Type	Metaphyseal dysplasia, Hepatomegaly, Rhizomelia, Abnormal thumb morphology, Abnormal femur morpho...	ORPHA:1842
Free Sialic Acid Storage Disease	Hepatomegaly, Failure to thrive in infancy, Proteinuria, Splenomegaly, Reduced bone mineral densi...	ORPHA:834
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Harderoporphyria	Hemolytic anemia, Hepatomegaly, Reticulocytosis, Increased urine harderoporphyrin level, Splenome...	OMIM:618892
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Increased urinary glycerol, Hypoglycemia, Seizure, H...	ORPHA:348
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ...	OMIM:603554
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Reduced bone miner...	ORPHA:848
Malonyl-Coa Decarboxylase Deficiency	Short stature, Hypoglycemia, Methylmalonic aciduria, Seizure, Elevated urine suberic acid level, ...	OMIM:248360
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Microvesicular hepatic steatosis, Osteomyelitis leading to amputation due ...	OMIM:256810
Barth Syndrome	Cyclic neutropenia, Hypochromic microcytic anemia, Growth delay, 3-Methylglutaconic aciduria, Gra...	OMIM:302060
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Short stature, Conjuga...	OMIM:211600
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu...	OMIM:619846
Rothmund-Thomson Syndrome Type 2	Calcinosis, Osteopenia, Short metacarpal, Abnormal trabecular bone morphology, Aplastic anemia, A...	ORPHA:221016
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an...	OMIM:614162
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay	Seizure, Recurrent hypoglycemia	OMIM:618158
Celiac Disease, Susceptibility To, 1	Elevated hepatic transaminase, Macrocytic anemia, Short stature, Eczema, Stomatitis, Postnatal gr...	OMIM:212750
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Failure to thrive, Short stature, Postaxial polydactyly, Renal hypoplasia, ...	OMIM:618460
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Elevated hepatic transaminase, Elevated circulating dodecanoylcarnitine concentration, Increased ...	OMIM:619355
Stormorken Syndrome	Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Short stature, Asplenia,...	OMIM:185070
Diamond-Blackfan Anemia 4	Macrocytic anemia, Short stature, Erythroid hypoplasia, Reticulocytopenia, Growth delay, Neutropenia	OMIM:612527
Prolidase Deficiency	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Eczema, Hyperimidodi...	OMIM:170100
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Renal salt wasting, Hyperkalemi...	OMIM:614736
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:615895
Griscelli Syndrome Type 1	Seizure, Hyperlipidemia	ORPHA:79476
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Hypoglycemia, Elevated circulating creatine kinase concentration, Small for gestational age, Seiz...	OMIM:619055
Mitochondrial Complex I Deficiency, Nuclear Type 19	Seizure, Hypoglycemia, Myoclonus	OMIM:618241
Dilated Cardiomyopathy With Ataxia	Elevated hepatic transaminase, Hypoplasia of penis, Microvesicular hepatic steatosis, Hypochromic...	ORPHA:66634
Pancreatic And Cerebellar Agenesis	Failure to thrive, Diabetes mellitus, Hypoglycemia, Seizure, Severe intrauterine growth retardati...	OMIM:609069
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Brachydactyly, Rhizomelia, Flat capital femoral epiphysis, Metaphyseal widening, Coxa...	OMIM:271510
Classic Hodgkin Lymphoma	Hepatomegaly, Skin rash, Splenomegaly, Osteolysis, Lymphadenopathy, Weight loss, Bone marrow hypo...	ORPHA:391
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Short stature, Abnormal fingertip morphology, Hyperlipidemia, Insulin resistance, Ost...	ORPHA:90154
Mitochondrial Trifunctional Protein Deficiency 2	Increased circulating NT-proBNP concentration, Hypoglycemia, Elevated circulating aspartate amino...	OMIM:620300
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Infantile Liver Failure Syndrome 2	Elevated hepatic transaminase, Acute hepatic failure, Hypoglycemia, Jaundice, Hyperammonemia, Sei...	OMIM:616483
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Uveitis, Leukopenia, Hypoalbuminemia, Abnorma...	ORPHA:99826
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Hepatomegaly, Proteinuria, Glomerulonephritis, Short stature, Short iliac bones, Rhizomelia, Meta...	OMIM:614376
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Inflammation of the large intestine...	ORPHA:906
Glutaric Acidemia I	Hepatomegaly, Ketonuria, Hypoglycemia, Glutaric aciduria, Seizure, Elevated circulating glutaric ...	OMIM:231670
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Anemia, Osteopetrosis, Failure to thrive, Thrombocytopenia	OMIM:615085
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Failure to thrive in infancy, Microcytic anemia, Elevated circulating alanine amino...	OMIM:618805
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperglycinuria, Seizure, Medium chain...	OMIM:201450
Oculocerebrorenal Syndrome Of Lowe	Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Periodontitis, Chronic otitis...	ORPHA:534
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Decreased circulating cortisol level, Severe B lymphocytopenia, Failure to thrive, ...	ORPHA:293978
Developmental Delay, Hypotonia, And Impaired Language	Seizure, Recurrent pneumonia, Neutropenia	OMIM:620012
Ataxia-Telangiectasia	Lymphopenia, Failure to thrive, Diabetes mellitus, Short stature, Sinusitis, Elevated circulating...	OMIM:208900
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Ivory epiphyses of the phalanges of the hand, Hepatomegaly, Short stature, Osteoporosis, Cone-sha...	OMIM:226980
Pediatric-Onset Graves Disease	Elevated hepatic transaminase, Hepatomegaly, Episcleritis, Craniosynostosis, Keratitis, Splenomeg...	ORPHA:525731
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa...	OMIM:615234
Acute Adrenal Insufficiency	Normocytic anemia, Hyponatremia, Decreased circulating cortisol level, Renal insufficiency, Hypog...	ORPHA:95409
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating...	ORPHA:139507
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Bronchiectasis, Decreased circulating antibody level, Agammaglobulinemia, Re...	OMIM:601495
Whim Syndrome	Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent pneumonia, Abnormal neutroph...	ORPHA:51636
Combined Oxidative Phosphorylation Deficiency 53	Hepatomegaly, Osteomyelitis, Short stature, Elevated circulating C-reactive protein concentration...	OMIM:619423
Heterotaxy, Visceral, 1, X-Linked	Hepatomegaly, Congenital hip dislocation, Renal agenesis, Cardiomegaly, Asplenia, Biliary atresia...	OMIM:306955
Familial Multiple Lipomatosis	Insulin resistance, Seizure, Bowing of the long bones, Hyperlipidemia	ORPHA:199276
Immunodeficiency 42	Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu...	OMIM:616622
Cernunnos-Xlf Deficiency	Thrombocytopenia, Decreased circulating antibody level, Growth delay, T lymphocytopenia, B lympho...	ORPHA:169079
Lymphangiectasia, Intestinal	Lymphopenia, Stillbirth, Intestinal lymphangiectasia, Decreased circulating IgG level, Neonatal h...	OMIM:152800
Fabry Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Short stature, Hyperlipidemia, Abnormal femur m...	ORPHA:324
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Neutropenia, Infectious encephalitis, ...	ORPHA:73263
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Inflammatory abnormality of the skin, Small for gest...	ORPHA:26793
Dopamine Beta-Hydroxylase Deficiency	Hypoglycemia, Insulin resistance, Elevated urinary dopamine level, Elevated circulating creatinin...	ORPHA:230
Alagille Syndrome 1	Multiple small medullary renal cysts, Vesicoureteral reflux, Hypoplasia of the ulna, Renal hypopl...	OMIM:118450
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat...	ORPHA:905
Blue Diaper Syndrome	Elevated hepatic transaminase, Hypercalcemia, Increased body weight, Increased proinsulin:insulin...	ORPHA:94086
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating acylcarn...	ORPHA:159
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Myopathy With Extrapyramidal Signs	Elevated hepatic transaminase, Hepatomegaly, Extremely elevated creatine kinase, Elevated circula...	OMIM:615673
Hepatic Veno-Occlusive Disease	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Jaundice, Increased body weight...	ORPHA:890
Endocrine-Cerebroosteodysplasia	Syndactyly, Bowed forearm bones, Sandal gap, Hypospadias, Postaxial polydactyly, Focal polymicrog...	OMIM:612651
Donohue Syndrome	Postnatal growth retardation, Long penis, Hyperinsulinemia, Cholestasis, Severe failure to thrive...	OMIM:246200
Megalocornea-Intellectual Disability Syndrome	Osteopenia, Short stature, Tapered finger, Seizure, Metatarsus valgus, Hypercholesterolemia, Genu...	ORPHA:2479
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Failure to thrive, Elevated circulating creatinine concentration, Cholestasis, Anem...	OMIM:608104
Whipple Disease	Hyponatremia, Hepatomegaly, Myositis, Pericarditis, Cachexia, Splenomegaly, Insulin resistance, M...	ORPHA:3452
Tangier Disease	Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Hepatospl...	ORPHA:31150
Sponastrime Dysplasia	Delayed epiphyseal ossification, Osteopathia striata, Metaphyseal widening, Coxa vara, Ivory epip...	ORPHA:93357
Acth Deficiency, Isolated	Decreased circulating cortisol level, Jaundice, Cholestasis, Seizure, Fasting hypoglycemia	OMIM:201400
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Elevated hepatic transaminase, Hepatomegaly, Duplicated collecting system, Small for gestational ...	OMIM:301056
Neuhauser Syndrome	Osteopenia, Arachnodactyly, Short stature, Genu valgum, Seizure, Hypercholesterolemia	OMIM:249310
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Opsismodysplasia	Hepatomegaly, Abnormally ossified vertebrae, Severe short stature, Tapered finger, Splenomegaly, ...	ORPHA:2746
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H...	OMIM:613812
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Elevated hepatic transaminase, Ketonuria, Hypoglycemia, Elevated circulating creatine kinase conc...	ORPHA:480864
3-Methylglutaconic Aciduria, Type Viii	Jaundice, Growth delay, Seizure, 3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Neutrope...	OMIM:617248
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Short stature, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasi...	OMIM:601847
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Dicarboxylic aciduria, Hypoglycemia, Microvesicular hepatic steato...	OMIM:611126
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity...	OMIM:615812
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancrea...	ORPHA:79084
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin...	ORPHA:97279
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Hepatomegaly, Increased serum pyruvate, Hyperglutamatemia, Hypoglycemia, Failur...	ORPHA:3008
Neutral Lipid Storage Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Short statu...	ORPHA:98908
Polyendocrine-Polyneuropathy Syndrome	Hypoglycemia, Elevated hemoglobin A1c, Short stature, Postnatal growth retardation, Type I diabet...	OMIM:616113
Houge-Janssens Syndrome 1	Congenital hip dislocation, Hypoglycemia, Multifocal seizures, Seizure, Intrauterine growth retar...	OMIM:616355
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormal acetabulum morpholog...	OMIM:618641
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Stippled chondral calcification, Metatarsus adduct...	OMIM:214110
Immunodeficiency 44	Elevated circulating alanine aminotransferase concentration, Decreased circulating total IgM, Abn...	OMIM:616636
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Fetal ascites, Hepatomegaly	OMIM:619462
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Abnormality of the spleen, Splenomegaly, Seizure, Stillbirth, Neonata...	ORPHA:85212
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated circulating C-reactive protein concentration, Leukopenia, Hashimoto thyroiditis, Hepatom...	OMIM:615688
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Generalized-onset seizure, T lymphocytopenia, Narrow greater sciatic notch, Decreased circulating...	ORPHA:508533
Histidinuria-Renal Tubular Defect Syndrome	Impaired histidine renal tubular absorption, Hypoglycemia, Histidinuria, Short middle phalanx of ...	ORPHA:2158
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Lymphopenia, Peritoneal effusion, Decreased circulating antibody level, Weight l...	ORPHA:90362
Glycosylphosphatidylinositol Biosynthesis Defect 1	Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Generalized non-motor (a...	OMIM:610293
T-Cell Immunodeficiency With Thymic Aplasia	Failure to thrive, Aplasia of the thymus, Recurrent pneumonia, Bronchiectasis, Hepatosplenomegaly...	OMIM:242700
Congenital Isolated Acth Deficiency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hepatitis, Hypoglycemic seizure...	ORPHA:199296
Shashi-Pena Syndrome	Short metacarpal, Hypoglycemia, Unilateral renal agenesis, Osteoporosis, Seizure, Intrauterine gr...	OMIM:617190
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Small for gestational age, Splenomegaly, Wide anterior fontanel, Micr...	OMIM:606003
Congenital Disorder Of Glycosylation, Type Iij	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Splenomegaly, Seizure, Cirrhosis,...	OMIM:613489
Silver-Russell Syndrome 2	Short stature, 2-3 toe syndactyly, Clinodactyly of the 5th finger, Intrauterine growth retardatio...	OMIM:618905
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Arthritis, Lymphopenia, Eosinophilia	ORPHA:2582
Systemic Lupus Erythematosus 17	Autoimmune thrombocytopenia, Thrombocytopenia, Malar rash, Leukopenia, Optic neuritis, Lymphopeni...	OMIM:301080
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Renal insufficiency, Hypercalcemia, Renal hypoplasia/aplasia, Anemia, Ascites, Thro...	ORPHA:2123
Hsd10 Disease, Infantile Type	Hypoglycemia, Cardiomegaly, Hyperammonemia, Seizure, Abnormal concentration of acylcarnitine in t...	ORPHA:391428
Dpm1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Early onset absence seizures, Sandal gap, Elevated c...	ORPHA:79322
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Hip dislocation, Hepatosplenomegaly, Ascites, Seizure, Polycystic kidney dysplasia,...	OMIM:608776
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Osteopenia, Hepatomegaly, Diabetes mellitus, Increased circulating thyroglobulin level, Portal hy...	OMIM:610199
Short Stature, Microcephaly, And Endocrine Dysfunction	Abnormal circulating lipid concentration, Diabetes mellitus, Short stature, Unilateral renal agen...	OMIM:616541
Bardet-Biedl Syndrome 20	Elevated hepatic transaminase, Hypercholesterolemia, Proteinuria, Postaxial polydactyly, Postaxia...	OMIM:619471
Caroli Disease	Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Hepatic fibrosis, Hepatomegaly, Portal...	ORPHA:53035
Intellectual Developmental Disorder, Autosomal Dominant 54	Small for gestational age, Short stature, Eczema, Bilateral tonic-clonic seizure, Growth delay, S...	OMIM:617799
B4Galt1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Inflammatory abnormality of the skin, Small for gest...	ORPHA:79332
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Seizure, Hypoglycemia, 2-ethylhydracylic aciduria	OMIM:610006
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Unilateral renal agenesis, Sple...	OMIM:216360
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hepatomegaly, Rocker bottom foot, Anisocytosis, Renal hypoplasia, Lacticaciduria, Aminoaciduria, ...	OMIM:604273
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Elevated hepatic transaminase, Hypertyrosinemia, Failure to thrive, Hypoglycemia, 4-hydroxyphenyl...	OMIM:617156
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Splenomegaly, Intrahepatic choles...	OMIM:235555
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Hypoglycemia, Myoclonic seizure, 3-Methylglutaconic aciduria, Bile...	OMIM:618329
Infantile Refsum Disease	Hepatomegaly, Short stature, Elevated circulating phytanic acid concentration, Seizure, Abnormal ...	ORPHA:772
Silver-Russell Syndrome	Sandal gap, Failure to thrive in infancy, Cachexia, Hypospadias, Short stature, Postnatal growth ...	ORPHA:813
Relapsing Fever	Elevated hepatic transaminase, Neutrophilia, Elevated circulating C-reactive protein concentratio...	ORPHA:91547
Classical-Like Ehlers-Danlos Syndrome Type 2	Hallux valgus, Osteopenia, Hypertriglyceridemia, Arachnodactyly, Sandal gap, Phalangeal dislocati...	ORPHA:536532
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Acute hepatic failure, Elevated hepatic transaminase, Ketonuria, Hypoglycemia, Hyperammonemia, Gr...	OMIM:615453
Brucellosis	Liver abscess, Elevated circulating C-reactive protein concentration, Knee osteoarthritis, Leukop...	ORPHA:1304
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:616433
Diamond-Blackfan Anemia	Pure red cell aplasia, Reticulocytopenia, Leukopenia, Triphalangeal thumb, Neutropenia, Elevated ...	ORPHA:124
Primary Sclerosing Cholangitis	Acute hepatic failure, Osteopenia, Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Hyp...	ORPHA:171
Hereditary Amyloidosis With Primary Renal Involvement	Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo...	ORPHA:85450
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Acute hyperammonemia, Ketonuria, Hypoglycemia, Seborrheic dermatitis, Hyperglycinuria, Hyperammon...	OMIM:210210
Glucocorticoid Deficiency 1	Seizure, Decreased circulating cortisol level, Failure to thrive, Recurrent hypoglycemia	OMIM:202200
Mitochondrial Trifunctional Protein Deficiency 1	Elevated hepatic transaminase, Small for gestational age, Elevated circulating creatine kinase co...	OMIM:609015
Isolated Thyroid-Stimulating Hormone Deficiency	Failure to thrive, Delayed proximal femoral epiphyseal ossification, Growth delay, Abnormal epiph...	ORPHA:90674
Atypical Werner Syndrome	Sclerosis of hand bone, Fasting hyperinsulinemia, Reduced bone mineral density, Finger clinodacty...	ORPHA:79474
Mandibuloacral Dysplasia With Type A Lipodystrophy	Short stature, Insulin resistance, Hyperlipidemia, Osteolysis, Osteolytic defects of the distal p...	ORPHA:90153
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
Congenital Analbuminemia	Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Increased circulati...	ORPHA:86816
Helsmoortel-Van Der Aa Syndrome	Enuresis nocturna, Short 4th toe, Clinodactyly of the 5th finger, Prominent fingertip pads, Broad...	OMIM:615873
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Osteopenia, Congenital hip dislocation, Hypoglycemia, Short stature, Tapered finger, Delayed epip...	OMIM:616007
Sting-Associated Vasculopathy, Infantile-Onset	Failure to thrive, Myositis, Skin rash, Elevated circulating C-reactive protein concentration, In...	OMIM:615934
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypoalbuminemia, Neonatal death, Int...	OMIM:619534
X-Linked Dominant Chondrodysplasia Punctata	Abnormally ossified vertebrae, Short stature, Neonatal epiphyseal stippling, Hip dislocation, Ant...	ORPHA:35173
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Generalized Pustular Psoriasis	Elevated hepatic transaminase, Hyponatremia, Renal insufficiency, Elevated circulating C-reactive...	ORPHA:247353
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Elevated hepatic transaminase, Short humerus, Hepatomegaly, Short femur, Hypoglycemia, Methylmalo...	ORPHA:17
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Failure to thrive, Steatorrhea, Renal cyst, Proximal tubulopathy, Hepatic fibrosis,...	OMIM:602579
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Increased bone mineral density, Splenomegaly, Thrombocytopenia, Gr...	OMIM:611490
Bachmann-Bupp Syndrome	Hypoglycemia, Focal polymicrogyria, Large for gestational age, Hyperbilirubinemia, Clinodactyly o...	OMIM:619075
Immunodeficiency, Common Variable, 10	Psoriasiform dermatitis, Hypoglycemia, Recurrent pneumonia, Decreased circulating total IgM, Recu...	OMIM:615577
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Skin rash, Autoimmune thrombocytopenia, Splenomegaly, ...	ORPHA:100026
Hurler-Scheie Syndrome	Hepatomegaly, Short stature, Abnormality of the tonsils, Splenomegaly, Rhinitis	ORPHA:93476
Wilson Disease	Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Aminoac...	OMIM:277900
Legionnaires Disease	Hyponatremia, Renal insufficiency, Pericarditis, Proteinuria, Splenomegaly, Jaundice, Myocarditis...	ORPHA:549
Trichothiodystrophy	Osteopenia, Congenital exfoliative erythroderma, Increased bone mineral density, Generalized-onse...	ORPHA:33364
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Hepatoblastoma, Clinodacty...	ORPHA:373
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Abnormal trabecular bone morphology, Femur fracture, Splenomegaly, Recurrent pneumo...	OMIM:612301
Immunodeficiency 92	Hepatomegaly, Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Decreased proportion of class-...	OMIM:619652
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Failure to thrive in infancy, Skin rash, Elevated circulating C-reactive protein co...	OMIM:617099
Pediatric Systemic Lupus Erythematosus	Dark urine, Renal insufficiency, Myositis, Proteinuria, Skin rash, Discoid lupus rash, Malar rash...	ORPHA:93552
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Clubbing, Decreased circulating antibody level, Growth delay, Iron deficiency anemi...	OMIM:226300
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Pericarditis, Anterior uveitis, Skin rash, Elevated circulating C-reactive protein ...	ORPHA:85414
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Dicarboxylic aciduria, Hypoglycemic seizures, Hepatic necrosis, Growth...	OMIM:231530
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Blepharitis, Thr...	ORPHA:158029
Noonan Syndrome 12	Lymphopenia, Atopic dermatitis, Thrombocytopenia, Proximal placement of thumb	OMIM:618624
Hyper-Igd Syndrome	Neutrophilia, Skin rash, Increased circulating IgA level, Splenomegaly, Leukocytosis, Lymphadenit...	OMIM:260920
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Cachexia, Thromboc...	ORPHA:824
Diamond-Blackfan Anemia 1	Macrocytic anemia, Failure to thrive, Short stature, Congenital hypoplastic anemia, Absent thumb,...	OMIM:105650
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Elevated hepatic transaminase, Hepatomegaly, Postnatal growth retardation, Metaphyseal widening, ...	ORPHA:73230
Hemihyperplasia-Multiple Lipomatosis Syndrome	Macrodactyly, Seborrheic dermatitis, 2-4 toe syndactyly, Abnormality of the lymphatic system, Foo...	ORPHA:276280
Toxic Epidermal Necrolysis	Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Dysuria, Abnormality o...	ORPHA:537
Focal Facial Dermal Dysplasia Type Iv	Focal-onset seizure, Abnormal mast cell morphology	ORPHA:398189
Lig4 Syndrome	Hepatomegaly, Pancytopenia, Hypoplasia of penis, Leukocytosis, Acute leukemia, Lymphadenopathy, G...	ORPHA:99812
Dicarboxylic Aminoaciduria	Aminoaciduria, Aspartic aciduria, Nephrolithiasis, Fasting hypoglycemia	OMIM:222730
Macrocephaly/Autism Syndrome	Hepatomegaly, Penile freckling, Large for gestational age, Splenomegaly, Obesity, Decreased circu...	OMIM:605309
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Elevated urinary 3-hydroxybutyric acid, Ketonuria, Hypoglycemia, Abnormal urine sebacic acid conc...	OMIM:615751
Hypoadrenocorticism, Familial	Hyponatremia, Seizure, Hyperkalemia, Hypoglycemia	OMIM:240200
Immunodeficiency 13	Lymphopenia, Recurrent pneumonia, Bronchiectasis, T lymphocytopenia, B lymphocytopenia, Recurrent...	OMIM:615518
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Dark yellow urine, Atreti...	ORPHA:30391
Peroxisome Biogenesis Disorder 5A (Zellweger)	Generalized-onset seizure, Conjugated hyperbilirubinemia, Renal cyst, Pachygyria, Intrahepatic bi...	OMIM:614866
Hepatitis, Fulminant Viral, Susceptibility To	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Type I diabetes melli...	OMIM:618549
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:208920
Cronkhite-Canada Syndrome	Hepatomegaly, Cachexia, Tapered finger, Splenomegaly, Seizure, Anemia	ORPHA:2930
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Osteopenia, Proteinuria, Pericard...	OMIM:212065
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculo...	ORPHA:822
Lowe Oculocerebrorenal Syndrome	Elevated circulating creatine kinase concentration, Bicarbonaturia, Aminoaciduria, Renal Fanconi ...	OMIM:309000
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hyperphosphaturia, Hypercalcemia, Polyuria, Splenomegaly, Hypercalciuri...	OMIM:239200
Mitochondrial Trifunctional Protein Deficiency	Failure to thrive in infancy, Equinus calcaneus, Cholestasis, Seizure, Hypocalcemia, Left ventric...	ORPHA:746
Mixed Connective Tissue Disease	Hemolytic anemia, Hepatomegaly, Myositis, Pericarditis, Skin rash, Gastritis, Splenomegaly, Media...	ORPHA:809
Kabuki Syndrome 2	Short stature, Postnatal growth retardation, Hip dislocation, Horseshoe kidney, Seizure, Short 5t...	OMIM:300867
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce...	ORPHA:35078
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Hepatomegaly, Hypospadias, Camptodactyly of finger, Abnormality of the kidney, Hyperammonemia, Gr...	ORPHA:1194
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Short stature, Hip dislocation, Fasting hypoglycemia, Genu valgum	ORPHA:436174
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ...	OMIM:249100
Lysinuric Protein Intolerance	Hepatomegaly, Hypolysinemia, Short stature, Splenomegaly, Increased circulating ferritin concentr...	OMIM:222700
Glycogen Storage Disease Ixd	Hypoglycemia, Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria	OMIM:300559
Caroli Syndrome	Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho...	ORPHA:480520
Hypocomplementemic Urticarial Vasculitis	Episcleritis, Hepatomegaly, Renal insufficiency, Glomerulopathy, Proteinuria, Skin rash, Splenome...	ORPHA:36412
Sézary Syndrome	Hepatomegaly, Abnormal immunoglobulin level, Splenomegaly, Lymphadenopathy, Erythroderma, Abnorma...	ORPHA:3162
Cyanosis, Transient Neonatal	Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia	OMIM:613977
Meacham Syndrome	Accessory spleen, Horseshoe kidney, Stillbirth, Neonatal death, Enlarged kidney	OMIM:608978
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Generalized-onset seizure, Hypospadias, Large for gestational age, Focal-onset seizure, Seizure, ...	ORPHA:457485
Mitochondrial Complex I Deficiency, Nuclear Type 1	3-hydroxydicarboxylic aciduria, Hepatomegaly, Failure to thrive, Hypoglycemia, Hypospadias, Bilat...	OMIM:252010
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Pneumonia, Jaundice, Hyperkalem...	ORPHA:90790
Fructose Intolerance, Hereditary	Elevated hepatic transaminase, Hepatomegaly, Transient aminoaciduria, Hyperphosphaturia, Hypoglyc...	OMIM:229600
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated hepatic transaminase, Hypertyrosinemia, Hypoglycemia, Cholangitis, Microvesicular hepati...	OMIM:124000
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Short stature, Elevated circulating creatine kinase concentratio...	OMIM:611881
Cog8-Cdg	Elevated hepatic transaminase, Hypoglycemia, Seizure, Myoclonus, Failure to thrive	ORPHA:95428
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Clinodactyly of the 5th finger, Lymphopenia, Hypoproteinemia, Decreased circulating antibody level	ORPHA:1116
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Immunodeficiency 67	Liver abscess, Transient neutropenia, Increased circulating IgE level	OMIM:607676
Sweet Syndrome	Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Increased circulating inter...	ORPHA:3243
Sotos Syndrome	Abnormality of the kidney, Long metacarpals, Increased body weight, Genu valgum, Long phalanx of ...	OMIM:117550
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hepatomegaly, Short stature, Splenomegaly, Growth delay, Osteopetrosis, Reduced renal corticomedu...	OMIM:618541
Pseudo-Torch Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Pachygyria, Splenomegaly, Jaund...	OMIM:251290
Pachydermoperiostosis	Hepatomegaly, Osteomyelitis, Acne, Seborrheic dermatitis, Splenomegaly, Small hand, Osteoporosis,...	ORPHA:2796
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po...	OMIM:602347
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Broad hallux, Hypoglycemia, Bilateral tonic-clonic seizure, Tapered finger, Infantile spasms, Sho...	OMIM:620224
Idiopathic Aplastic Anemia	Pancytopenia, Thrombocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia	ORPHA:88
X-Linked Intellectual Disability, Nascimento Type	Recurrent cutaneous abscess formation, Overlapping toe, Hypospadias, Clubbing of toes, Short foot...	ORPHA:163956
Beckwith-Wiedemann Syndrome	Hepatomegaly, Nephroblastoma, Cardiomegaly, Pancreatic hyperplasia, Vesicoureteral reflux, Renal ...	OMIM:130650
Isolated Complex I Deficiency	Increased serum pyruvate, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Proximal tubulopathy, In...	ORPHA:2609
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Simpson-Golabi-Behmel Syndrome, Type 1	Renal cyst, Narrow greater sciatic notch, Short palm, Hepatoblastoma, Hepatomegaly, Hypospadias, ...	OMIM:312870
Tenorio Syndrome	Osteopenia, Hypoglycemia, Recurrent pneumonia, Enuresis, Keratoconjunctivitis sicca, Seizure, Rec...	OMIM:616260
Herpes Simplex Virus Encephalitis	Hyponatremia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, ...	ORPHA:1930
Histiocytosis-Lymphadenopathy Plus Syndrome	Cardiomegaly, Joint contracture of the 5th finger, Micropenis, Pancreatic hypoplasia, Hepatomegal...	OMIM:602782
Mcleod Syndrome	Hepatomegaly, Generalized-onset seizure, Elevated circulating aspartate aminotransferase concentr...	OMIM:300842
Oculoskeletodental Syndrome	Hepatomegaly, Small for gestational age, Hypercalcemia, Short stature, Renal agenesis, Splenomega...	OMIM:618440
Basilicata-Akhtar Syndrome	Short palm, Short foot, Seizure, Camptodactyly, Neonatal hypoglycemia, Adducted thumb	OMIM:301032
Syndromic Diarrhea	Hepatomegaly, Small for gestational age, Short stature, Increased mean platelet volume, Gastritis...	ORPHA:84064
Staphylococcal Necrotizing Pneumonia	Diabetes mellitus, Neutrophilia, Pneumonia, Elevated circulating C-reactive protein concentration...	ORPHA:36238
Congenital Disorder Of Glycosylation, Type Im	Inflammatory abnormality of the skin, Increased circulating free fatty acid level, Seizure, Failu...	OMIM:610768
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatic steatosis, Hepatomegaly, Ulnar deviation of the 3rd finger, Diabetes mellitus, Pancreatic...	OMIM:616263
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Increased urinary glycerol, Hypoglycemia, Seizure	OMIM:229700
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Osteopenia, Ureteral duplication, Cholangitis, Short metatarsal, Renal cyst, Hepatic fibrosis, Ne...	OMIM:266920
Aica-Ribosuria Due To Atic Deficiency	Hyponatremia, Seizure, Hypoglycemia, Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level	OMIM:608688
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	ORPHA:98855
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Syndactyly, Small for gestational age, Hypospadias, Postnatal growth retardation, Insulin resista...	ORPHA:96182
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased circulating ferritin concentrati...	OMIM:194380
Hennekam Syndrome	Finger syndactyly, Mild postnatal growth retardation, Camptodactyly of finger, Craniosynostosis, ...	ORPHA:2136
Microphthalmia, Syndromic 9	Renal malrotation, Severe short stature, Short stature, Multilobulated spleen, Renal hypoplasia, ...	OMIM:601186
Post-Traumatic Pituitary Deficiency	Osteopenia, Hypoglycemia, Growth delay, Delayed puberty, Osteoporosis of vertebrae	ORPHA:95619
Trichohepatoenteric Syndrome 1	Hepatic fibrosis, Hypoalbuminemia, Hepatomegaly, Hypospadias, Short stature, Increased mean plate...	OMIM:222470
Oculodentodigital Dysplasia	Finger syndactyly, Neurogenic bladder, Toe syndactyly, Hypoglycemia, Camptodactyly of finger, Sho...	ORPHA:2710
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Osteopetrosis, Autosomal Dominant 3	Osteopenia, Splenomegaly, Anemia, Hepatomegaly	OMIM:618107
Peroxisome Biogenesis Disorder 4A (Zellweger)	Hepatomegaly, Renal cyst, Epiphyseal stippling, Seizure, Increased circulating very long-chain fa...	OMIM:614862
D-Bifunctional Protein Deficiency	Elevated hepatic transaminase, Hepatomegaly, Osteopenia, Bilateral tonic-clonic seizure, Fetal as...	OMIM:261515
Gm1-Gangliosidosis, Type Ii	Hepatomegaly, Coxa valga, Splenomegaly, Sea-blue histiocytosis, Generalized myoclonic seizure, Fa...	OMIM:230600
Hereditary Fructose Intolerance	Hepatomegaly, Renal insufficiency, Reactive hypoglycemia, Jaundice, Chronic kidney disease, Hyper...	ORPHA:469
Bacterial Toxic-Shock Syndrome	Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Increased cir...	ORPHA:36234
Microgastria-Limb Reduction Defect Syndrome	Abnormality of the spleen, Abnormal finger morphology, Phocomelia, Hepatomegaly, Multicystic kidn...	ORPHA:2538
Rabson-Mendenhall Syndrome	Enlarged ovaries, Impaired glucose tolerance, Short stature, Insulin resistance, Fasting hyperins...	ORPHA:769
Cryoglobulinemic Vasculitis	Viral hepatitis, Renal insufficiency, Hepatomegaly, Proteinuria, Glomerulopathy, Splenomegaly, Me...	ORPHA:91138
Primary Fanconi Renotubular Syndrome	Bicarbonaturia, Low-molecular-weight proteinuria, Hypophosphatemic rickets, Hypouricemia, Osteoma...	ORPHA:3337
Common Variable Immunodeficiency	Elevated hepatic transaminase, Hemolytic anemia, Failure to thrive in infancy, Pneumonia, Autoimm...	ORPHA:1572
Camurati-Engelmann Disease	Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Leukopenia, Co...	ORPHA:1328
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Anterior uveitis, Skin rash, Colitis, Lymphopenia, Thrombocytopenia	OMIM:616744
Cholera	Hyponatremia, Abnormality of renal excretion, Hypoglycemia, Abnormal blood ion concentration, Sei...	ORPHA:173
X-Linked Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	ORPHA:98863
Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	ORPHA:98853
Denys-Drash Syndrome	Diffuse mesangial sclerosis, Wide anterior fontanel, Stage 5 chronic kidney disease, Nephrotic sy...	OMIM:194080
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi...	OMIM:619463
Bloom Syndrome	Syndactyly, Small for gestational age, Elevated hemoglobin A1c, Postnatal growth retardation, Bro...	OMIM:210900
Cystinosis, Nephropathic	Metaphyseal widening, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hy...	OMIM:219800
Greenberg Dysplasia	Patchy variation in bone mineral density, Tetraphocomelia, Hypoplasia of the calcaneus, Absent or...	OMIM:215140
Avian Influenza	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu...	ORPHA:454836
Sheehan Syndrome	Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Obesity, Normochromic anemia, H...	ORPHA:91355
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Seizure, Aminoaciduria, ...	ORPHA:436271
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Q Fever	Abnormality of the liver, Cholecystitis, Infectious encephalitis, Hepatomegaly, Maculopapular exa...	ORPHA:781
Psoriasis 14, Pustular	Psoriasiform dermatitis, Neutrophilia, Cholangitis, Elevated circulating C-reactive protein conce...	OMIM:614204
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormality of the liver, Myeloprolifer...	ORPHA:79456
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Erythema nodosum, Splenomegaly, Mediastinal lymphadenopathy, Clubbing, Bronchiectas...	OMIM:612387
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Seizure, Dense calv...	OMIM:252920
Peroxisome Biogenesis Disorder 3B	Hepatomegaly, Elevated circulating phytanic acid concentration, Osteoporosis, Steatorrhea, Failur...	OMIM:266510
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Pancytopenia, Absence seizure with eyelid myoclonia, Megaloblastic anemia, Jaundice...	OMIM:613839
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Wide penis, Vesicoureteral reflux, Dilatation of renal calices, Hepatic steatosis, Lo...	ORPHA:3455
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Lymphopenia, Elevated hepatic transaminase, Severe B lymphocytopenia, Portal hy...	OMIM:620005
Leukocyte Adhesion Deficiency Type Ii	Hepatomegaly, Recurrent urinary tract infections, Neutrophilia, Overlapping toe, Small for gestat...	ORPHA:99843
Spondyloepimetaphyseal Dysplasia, Shohat Type	Hepatomegaly, Splenomegaly, Delayed epiphyseal ossification, Flared metaphysis, Coxa vara, Narrow...	OMIM:602557
Idiopathic Hypereosinophilic Syndrome	Myelofibrosis, Generalized lymphadenopathy, Cholangitis, Colitis, Neutrophilia, Leukocytosis, Clu...	ORPHA:3260
Holoprosencephaly	Hyponatremia, Hypoplasia of penis, Diabetes mellitus, Hypoglycemia, Failure to thrive in infancy,...	ORPHA:2162
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Hepatomegaly, Failure to thrive, Ulnar deviation of the 3rd finger, Congenital hip dislocation, D...	ORPHA:456312
Peroxisome Biogenesis Disorder 13A (Zellweger)	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio...	OMIM:614887
Pituitary Stalk Interruption Syndrome	Hypoplasia of penis, Hypoglycemia, Short stature, Seizure, Delayed puberty, Failure to thrive	ORPHA:95496
Xylt1-Cdg	Hepatomegaly, Short stature, Acne, Coxa valga, Flared metaphysis, Growth delay, Truncal obesity, ...	ORPHA:370930
Chronic Granulomatous Disease	Hepatomegaly, Liver abscess, Sinusitis, Eczema, Abnormality of neutrophils, Splenomegaly, Mediast...	ORPHA:379
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia	ORPHA:163596
Mpi-Cdg	Hepatomegaly, Portal hypertension, Hepatic fibrosis, Decreased liver function, Hypoalbuminemia, H...	ORPHA:79319
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Polyuria, Decreased circulating antibody level, Hypoalbuminem...	OMIM:618183
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Hepatomegaly, Short stature, Conjugated hyperbilirubinemia, Splenomegaly, Jaund...	OMIM:608885
Portal Hypertension, Noncirrhotic, 1	Elevated hepatic transaminase, Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:617068
Evans Syndrome	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Jaundice, Auto...	ORPHA:1959
Fish-Eye Disease	Splenomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy, Hepatomegaly	ORPHA:79292
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen...	ORPHA:64753
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ...	OMIM:600802
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Postnatal growth retardation, Splenomegaly, Postaxial hand polydactyly, Pancreatic ...	ORPHA:1655
Hennekam-Beemer Syndrome	Short stature, Camptodactyly of finger, Pneumonia, Seizure, Clinodactyly of the 5th finger, Masto...	ORPHA:2135
Osteopetrosis, Autosomal Recessive 9	Stage 3 chronic kidney disease, Increased bone mineral density, Cortical sclerosis, Postnatal gro...	OMIM:620366
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Hepatomegaly, Polyuria, Osteoporosis, Rickets, Proximal tubulopathy, Myoclonus, Type I diabetes m...	OMIM:560000
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Generalized lymphadenopathy, Hepatic steatosis, Hemolytic anemia, Hepatomegal...	OMIM:615846
Hurler Syndrome	Hepatomegaly, Hypoplasia of the femoral head, Short stature, Coxa valga, Heparan sulfate excretio...	OMIM:607014
Mucopolysaccharidosis, Type Ii	Hepatomegaly, Severe short stature, Short stature, Heparan sulfate excretion in urine, Splenomega...	OMIM:309900
Dengue Fever	Hepatomegaly, Skin rash, Leukopenia, Ascites, Hypoproteinemia, Thrombocytopenia	ORPHA:99828
Glycogen Storage Disease Of Heart, Lethal Congenital	Neonatal hypoglycemia, Cardiomegaly, Seizure, Ascites, Enlarged kidney	OMIM:261740
Lipodystrophy, Familial Partial, Type 7	Hypertriglyceridemia, Impaired glucose tolerance, Small for gestational age, Polyuria, Insulin re...	OMIM:606721
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Congenital hip dislocation, Microvesicular hepatic steatosis, Reduced bone mineral density, Shoul...	ORPHA:404454
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Seizure,...	OMIM:614922
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Psoriasiform dermatitis, Eosinophilia...	OMIM:617237
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Mediastinal lym...	ORPHA:83469
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Elevated hepatic transaminase, Ketonuria, Hypoglycemia, Elevated circulating creatine kinase conc...	OMIM:616878
Trichohepatoenteric Syndrome 2	Hepatomegaly, Small for gestational age, Decreased serum iron, Chronic hepatitis, Colitis, Cirrho...	OMIM:614602
Thauvin-Robinet-Faivre Syndrome	Renal dysplasia, Renal malrotation, Transient neutropenia, Large for gestational age, Bowing of t...	OMIM:617107
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration	ORPHA:140905
Budd-Chiari Syndrome	Elevated hepatic transaminase, Acute hepatic failure, Hepatomegaly, Portal hypertension, Splenome...	ORPHA:131
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Seizure, Aminoaciduria, ...	OMIM:220110
Multiple Sulfatase Deficiency	Broad hallux phalanx, Hepatomegaly, Short stature, Splenomegaly, Seizure, Mucopolysacchariduria, ...	ORPHA:585
Deeah Syndrome	Decreased hemoglobin concentration, Hepatomegaly, Short stature, Neonatal hypoglycemia, Intrauter...	OMIM:619004
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Hepatospleno...	ORPHA:367
Familial Glucocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Recurrent urinary tract infections, Ketotic h...	ORPHA:361
Orthostatic Hypotension 1	Neonatal hypoglycemia, Increased blood urea nitrogen, Seizure, Hypomagnesemia, Nocturia, Brachyda...	OMIM:223360
Dyskeratosis Congenita	Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Short stature, Abnormality of neutroph...	ORPHA:1775
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr...	OMIM:301068
Pituitary Apoplexy	Hyponatremia, Normochromic anemia, Increased circulating cortisol level, Hypoglycemia	ORPHA:95613
Cold Agglutinin Disease	Hemolytic anemia, Abnormal urinary color, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:56425
Interstitial Lung And Liver Disease	Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, E...	OMIM:615486
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Failure to thrive, Anisocytosis, Cardiomegaly, M...	OMIM:618278
Menkes Disease	Bowing of the long bones, Osteomyelitis, Hypoglycemia, Tarsal synostosis, Osteoporosis, Bladder d...	ORPHA:565
Biotinidase Deficiency	Hepatomegaly, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Splenomegaly, Hyperamm...	OMIM:253260
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, Hepatic hema...	ORPHA:2330
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Seizure, Dense calvaria	OMIM:252900
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Bowing of the long bones, Craniosynostosis, Splenomegaly, Lymphadenopathy, Growth d...	ORPHA:667
Cog5-Cdg	Elevated hepatic transaminase, Hepatomegaly, Neurogenic bladder, Short stature, Camptodactyly of ...	ORPHA:263487
Lathosterolosis	Hepatomegaly, Failure to thrive, Toe syndactyly, Hypoplasia of penis, Intrahepatic cholestasis, P...	ORPHA:46059
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Elevated hepatic transaminase, Short stature, Hyperlipidemia, Hyperkalemia, Obesity...	ORPHA:293987
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Psoriasi...	OMIM:243150
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Microscopic hematuria, Minimal change glomerulonephritis, Hyperlipidemia, Chronic kidney disease,...	ORPHA:567546
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Obesity, Hypoinsulinemia, Reactive hypoglycemia	OMIM:600955
Liver Failure, Infantile, Transient	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, 3-hydroxydicarboxylic aciduri...	OMIM:613070
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Focal-onset seizure, Intrauterine growth retardation, Hypoglycemia, Clonic seizure	OMIM:620275
Joubert Syndrome With Hepatic Defect	Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, P...	ORPHA:1454
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Postn...	ORPHA:288
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah...	OMIM:619849
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Interstitial pneumonitis, Anemia, Hepatomegaly	OMIM:620296
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Renal cyst, Hypoalbuminemia, Hypochole...	OMIM:270400
Glucocorticoid Resistance, Generalized	Increased circulating cortisol level, Hypoglycemia	OMIM:615962
Prolidase Deficiency	Hepatomegaly, Recurrent cystitis, Arachnodactyly, Splenomegaly, Crusting erythematous dermatitis,...	ORPHA:742
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatomegaly, Short stature, Tapered finger, Seborrheic dermatitis, Splenomegaly, Micronodular ci...	OMIM:301072
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Erlenmeyer flask deformity of th...	OMIM:230800
Pituitary Hormone Deficiency, Combined, 6	Short stature, Hypoglycemia, Seizure, Hyperbilirubinemia, Neonatal hypoglycemia	OMIM:613986
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypoglycemia, Hypospadias, Renal salt wasting	OMIM:201910
C Syndrome	Hepatomegaly, Short metacarpal, Toe syndactyly, Short stature, Fused sternal ossification centers...	OMIM:211750
Wiedemann-Rautenstrauch Syndrome	Long toe, Short humerus, Short femur, Hypertriglyceridemia, Small for gestational age, Hypospadia...	OMIM:264090
Alström Syndrome	Urinary incontinence, Functional abnormality of the bladder, Hepatic fibrosis, Otitis media, Micr...	ORPHA:64
Bile Acid Conjugation Defect 1	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:619232
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Thyroid lymphangiectasia, Splenomegaly, Postaxial hand polydactyly, Pancreatic lymp...	OMIM:235255
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Glomerulonephritis, Cardiomegaly, Hepatosplenomegaly, Iron deficiency anemia, Failu...	ORPHA:99931
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Osteopenia, Portal hypertension, Anemia, Type I diabetes mellitus, Lymphopenia, Thrombocytopenia	OMIM:620365
Lujo Hemorrhagic Fever	Elevated hepatic transaminase, Renal insufficiency, Maculopapular exanthema, Skin rash, Elevated ...	ORPHA:319213
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Splenomegaly, Weight loss, Panniculitis, Inflammatory abnormality of the eye	ORPHA:33577
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Increased circulating IgA level, Peritonitis, Lymphadenopathy, Growth delay, Arthri...	ORPHA:343
Polyendocrine-Polyneuropathy Syndrome	Postnatal growth retardation, Type II diabetes mellitus, Hypoglycemia, Hypoinsulinemia	ORPHA:453533
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr...	OMIM:618528
Cardiac-Urogenital Syndrome	Accessory spleen, Penoscrotal hypospadias, Hepatopulmonary fusion, 2-3 toe syndactyly, Patent ura...	OMIM:618280
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Leukocytosis, Sp...	OMIM:603903
Wars2-Related Combined Oxidative Phosphorylation Defect	Multifocal seizures, Thrombocytopenia, Seizure, Intrauterine growth retardation, Neonatal hypogly...	ORPHA:572798
Acute Liver Failure	Elevated hepatic transaminase, Hypoglycemia, Skin rash, Jaundice, Hepatitis, Hepatic necrosis, He...	ORPHA:90062
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Short stature, Impaired T cell function, Splenomegaly, Decreased serum zinc, Failur...	OMIM:201100
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Congenital hip dislocation, Hypoglycemia, Wide anterior fontanel, Seizure, Contracture of the pro...	ORPHA:457279
Glucocorticoid Deficiency 2	Decreased circulating cortisol level, Recurrent hypoglycemia	OMIM:607398
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Int...	OMIM:243300
Cryptogenic Organizing Pneumonia	Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:1302
Pneumocystosis	Abnormal neutrophil count, Weight loss, Acute infectious pneumonia, Interstitial pneumonitis, Inc...	ORPHA:723
Gm1-Gangliosidosis, Type I	Hepatomegaly, Severe short stature, Splenomegaly, Vacuolated lymphocytes, Seizure, Abnormality of...	OMIM:230500
Hypermanganesemia With Dystonia 1	Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Decreased liver function, Cirrhos...	OMIM:613280
Gaucher Disease	Osteopenia, Elevated circulating C-reactive protein concentration, Osteoarthritis, Hepatomegaly, ...	ORPHA:355
Bannayan-Riley-Ruvalcaba Syndrome	Short stature, Hypoglycemia, Cachexia, Seizure, Broad thumb, Hashimoto thyroiditis	ORPHA:109
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Anemia, Ascites, Seizure, Decreased...	OMIM:608013
Niemann-Pick Disease, Type C1	Hepatomegaly, Fatal liver failure in infancy, Bone-marrow foam cells, Fetal ascites, Splenomegaly...	OMIM:257220
Abetalipoproteinemia	Elevated hepatic transaminase, Reticulocytosis, Hepatic steatosis, Hepatomegaly, Decreased HDL ch...	ORPHA:14
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic irritative conjunctivitis, Chronic neutropenia, Neutropenia	OMIM:258360
Ataxia With Vitamin E Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma	OMIM:277460
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Pituitary dwarfism, Hypoglycemia, Overweight, Delayed proximal femoral epiphyseal ossification, G...	ORPHA:226307
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Pneumonia, Splenomegaly, Lymphadenopathy, Chronic otitis media, T...	ORPHA:169090
Trichohepatoneurodevelopmental Syndrome	Hepatomegaly, Overlapping toe, Splenomegaly, Hip dislocation, Short foot, Seizure, Fibular bowing...	OMIM:618268
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Intestinal lymphangiectasia, Lymphopenia, Hypoproteinemia	OMIM:207731
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Hurler-Scheie Syndrome	Hepatomegaly, Short stature, Camptodactyly of finger, Heparan sulfate excretion in urine, Splenom...	OMIM:607015
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Autoimmune hemolytic anemia, Myositis, Splenomegaly, Lymphadenopathy, Panniculitis	OMIM:619183
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Small for gestational age, Hypoglycemia, Tapered finger, Seizure, Short palm, Broad thumb	OMIM:614501
Combined Oxidative Phosphorylation Defect Type 39	Prominent calcaneus, Seizure, Neonatal hypoglycemia, Intrauterine growth retardation	ORPHA:565624
Al Amyloidosis	Hepatomegaly, Renal insufficiency, Increased circulating NT-proBNP concentration, Howell-Jolly bo...	ORPHA:85443
Reynolds Syndrome	Elevated hepatic transaminase, Hepatomegaly, Calcinosis, Erythema nodosum, Splenomegaly, Jaundice...	OMIM:613471
Fucosidosis	Hepatomegaly, Short stature, Cardiomegaly, Coxa valga, Splenomegaly, Vacuolated lymphocytes, Glyc...	OMIM:230000
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Increased bone mineral density, Proteinuria, Splenomegaly, Osteolysis...	ORPHA:77261
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Hypoplastic scapulae, Bowing of the legs, Splenomegaly, Short toe, Renal hypoplasia...	OMIM:269860
Bile Acid Synthesis Defect, Congenital, 4	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Elevated ci...	OMIM:214950
Mucopolysaccharidosis, Type Vi	Epiphyseal dysplasia, Hepatomegaly, Short stature, Pneumonia, Splenomegaly, Metaphyseal widening,...	OMIM:253200
Porphyria, Congenital Erythropoietic	Osteopenia, Hemolytic anemia, Hepatomegaly, Short stature, Splenomegaly, Jaundice, Red urine, Ost...	OMIM:263700
Combined Deficiency Of Factor V And Factor Viii	Hematuria, Hyperlipidemia, Hyperuricemia	ORPHA:35909
Aspartylglucosaminuria	Hepatomegaly, Aspartylglucosaminuria, Short stature, Acne, Vacuolated lymphocytes, Seizure, Neutr...	OMIM:208400
Transketolase Deficiency	Hepatomegaly, Increased level of ribose in urine, Proportionate short stature, Seborrheic dermati...	ORPHA:488618
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Liver Disease, Severe Congenital	Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Lymphocytosis, H...	OMIM:619991
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Hypouricemia, Autoimmune thrombocytopenia, Abnormal T cell morpholog...	ORPHA:760
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Hyperkalemia, Abnormal ur...	ORPHA:168558
Yellow Fever	Acute pancreatitis, Neutrophilia, Anuria, Elevated circulating aspartate aminotransferase concent...	ORPHA:99829
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Gray matter heterotopia, Obesity, Neonatal hypoglycemia, Brachydactyly	OMIM:608624
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Hyperkalemia, Abnormal ur...	ORPHA:289548
Lmna-Related Cardiocutaneous Progeria Syndrome	Abnormal intrahepatic bile duct morphology, Hypercholesterolemia, Hypertriglyceridemia, Papillary...	ORPHA:363618
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia, Hypospadias	OMIM:610644
Glucagonoma	Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Skin rash, Hypercalcemia, Acanthocytos...	ORPHA:97280
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Abnormality of T cell physiology, Pancytopenia, Generalized lymphadenopathy, Spleno...	OMIM:181000
Neurooculorenal Syndrome	Hypoplasia of the bladder, Decreased circulating cortisol level, Short hallux, Unilateral renal a...	OMIM:620305
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Decreased circulating cortisol level, Penoscrotal hypospadias, Hypospadias, Renal s...	ORPHA:90791
Gaucher Disease, Type Ii	Hepatomegaly, Splenomegaly, Anemia, Seizure, Failure to thrive, Recurrent aspiration pneumonia, T...	OMIM:230900
Pituitary Hormone Deficiency, Combined, 2	Seizure, Neonatal hypoglycemia, Short stature, Hypoglycemic seizures	OMIM:262600
Mogs-Cdg	Hepatomegaly, Cardiomegaly, Decreased circulating antibody level, Hepatosplenomegaly, Decreased c...	ORPHA:79330
Peroxisome Biogenesis Disorder 1B	Hyperoxaluria, Hepatomegaly, Renal cyst, Epiphyseal stippling, Seizure, Hepatic fibrosis, Cirrhosis	OMIM:601539
Secondary Intestinal Lymphangiectasia	Decreased circulating IgG1 level, Decreased prealbumin level, Reduced circulating transferrin con...	ORPHA:90363
Hermansky-Pudlak Syndrome	Renal insufficiency, Weight loss, Neutropenia	ORPHA:79430
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chronic active hepatitis, Leukopenia, Tubulointerstitial nephritis, ...	ORPHA:289390
Hypercholesterolemia, Familial, 3	Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia	OMIM:603776
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Pancytopenia, Short stature, Elevated circulating creatine kinase concentration, En...	ORPHA:2785
Perlman Syndrome	Nephrogenic rest, Hypoglycemia, Renal hamartoma, Large for gestational age, Nephroblastomatosis, ...	OMIM:267000
Multiple Endocrine Neoplasia, Type I	Hypoglycemia, Hypercalcemia, Pancreatic islet cell adenoma, Insulinoma, Increased circulating cor...	OMIM:131100
Cushing Disease	Increased urinary cortisol level, Diabetes mellitus, Impaired glucose tolerance, Paradoxical incr...	ORPHA:96253
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Seizure, Interstitial pneumonitis, Granulocytopenia, Lympho...	ORPHA:454831
Wiskott-Aldrich Syndrome	Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Inflammation of the large in...	OMIM:301000
Meckel Syndrome, Type 3	Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Postaxial h...	OMIM:607361
Ebola Hemorrhagic Fever	Acute pancreatitis, Maculopapular exanthema, Hepatitis, Leukopenia, Increased circulating antibod...	ORPHA:319218
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Failure to thrive, Severe B lymphocytopenia, Overlapping toe, Arachnodactyly, Super...	ORPHA:83617
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Elevated hepatic transaminase, Abnormal penis morphology, Anterior uveitis, Inflammatory abnormal...	ORPHA:95455
Familial Tumoral Calcinosis	Hepatomegaly, Skin rash, Splenomegaly, Nephrocalcinosis, Hyperostosis	ORPHA:53715
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Osteoporosis, Hepatic necrosis, Anemia, Leukopenia, Interstitial pneumonitis, In...	OMIM:127550
Arima Syndrome	Hepatomegaly, Proteinuria, Polyuria, Postaxial hand polydactyly, Stage 5 chronic kidney disease, ...	OMIM:243910
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H...	OMIM:607626
Cystic Fibrosis	Hepatomegaly, Recurrent pneumonia, Biliary cirrhosis, Hypercalciuria, Hepatosplenomegaly, Bronchi...	OMIM:219700
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia	OMIM:144010
Niemann-Pick Disease, Type C2	Hepatomegaly, Bone-marrow foam cells, Fetal ascites, Splenomegaly, Jaundice, Seizure, Sea-blue hi...	OMIM:607625
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha...	OMIM:613095
Somatostatinoma	Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Hypercalcemia, Intrahepatic cholestasi...	ORPHA:97283
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Abnormality of the pancreas, Reduced bone mineral density, Agammaglobulinemia, Long fibula, Abnor...	ORPHA:935
Histiocytoid Cardiomyopathy	Hepatomegaly, Hypoglycemia, Cardiomegaly, Renal cyst, Seizure, Failure to thrive	ORPHA:137675
Cranioectodermal Dysplasia 1	Tubulointerstitial nephritis, Hepatic fibrosis, Hypocalcemia, Hepatomegaly, Rhizomelia, Malformat...	OMIM:218330
Argininemia	Hepatomegaly, Postnatal growth retardation, Micronodular cirrhosis, Cholestasis, Hyperammonemia, ...	OMIM:207800
Scheie Syndrome	Splenomegaly, Rhinitis, Mucopolysacchariduria, Hepatomegaly	ORPHA:93474
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta...	ORPHA:309854
Cranioectodermal Dysplasia 2	Cholangitis, Renal cyst, Syndactyly, Hepatomegaly, Short stature, Rhizomelia, Biliary cirrhosis, ...	OMIM:613610
Vipoma	Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Hypercalcemia, Intrahepatic cholestasi...	ORPHA:97282
Polycythemia Vera	Myelofibrosis, Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Acute leu...	ORPHA:729
Degcags Syndrome	Osteopenia, Bilateral renal hypoplasia, Leukopenia, Iron deficiency anemia, Syndactyly, Hepatomeg...	OMIM:619488
Cerebral Visual Impairment	Seizure, Infectious encephalitis, Neonatal hypoglycemia	ORPHA:447788
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Elevated c...	OMIM:619525
Monocarboxylate Transporter 1 Deficiency	Ketonuria, Ketotic hypoglycemia	OMIM:616095
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Mediastinal lymphadenopathy, Leukocytosis, Bronchiectasis, Cholestasis, Recurrent o...	OMIM:620233
Icf Syndrome	Short stature, Abnormality of neutrophils, Decreased circulating antibody level, Lymphopenia, Anemia	ORPHA:2268
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T...	OMIM:619767
Crimean-Congo Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Leukopenia, Increased circulating IgG level, ...	ORPHA:99827
Woodhouse-Sakati Syndrome	Osteopenia, Insulin-resistant diabetes mellitus, Hyperlipidemia, Hyperinsulinemia, Growth delay, ...	ORPHA:3464
Citrullinemia, Classic	Hepatomegaly, Hyperglutaminemia, Oroticaciduria, Hyperammonemia, Episodic ammonia intoxication, S...	OMIM:215700
Hyperzincemia With Functional Zinc Depletion	Skin rash, Hepatomegaly, Increased serum zinc, Osteoporosis	OMIM:601979
Cockayne Syndrome B	Hepatomegaly, Renal insufficiency, Severe short stature, Small for gestational age, Proteinuria, ...	OMIM:133540
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Ketonuria, Hypoglycemia, Small for gestational age, Hypospadias, Increased hepatocellular lipid d...	OMIM:220111
Cockayne Syndrome	Urinary incontinence, Hepatomegaly, Renal hypoplasia, Nephrotic syndrome, Seizure, Delayed pubert...	ORPHA:191
Sarcoidosis	Increased T cell count, Uveitis, Nephrocalcinosis, Leukopenia, Tubulointerstitial nephritis, Hemo...	ORPHA:797
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Decreased circulating cortisol level, Short stature, Acne, Renal salt wasting, Long...	ORPHA:90794
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Dilatation of the renal pelvis, Bronchiectasis, Seizure, Inflammation of the large intestine, Ove...	OMIM:619708
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Decreased circulating cortisol level, Femoral bowing, Micropenis, Decreased circulating renin lev...	OMIM:201750
Glutaryl-Coa Dehydrogenase Deficiency	Infantile spasms, Glutaric aciduria, Chronic kidney disease, Seizure, Fasting hypoglycemia	ORPHA:25
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Hypoglycemia, Acne, Hypokalemia, Increased circulating cortisol...	ORPHA:786
Argininosuccinic Aciduria	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hyperglutaminemia, O...	OMIM:207900
Sotos Syndrome	Ureteral duplication, Chronic otitis media, Vesicoureteral reflux, Hypospadias, Abnormality of th...	ORPHA:821
Geleophysic Dysplasia 1	Short palm, Hepatomegaly, Osteopenia, Short stature, Camptodactyly of finger, Coxa valga, Short f...	OMIM:231050
Steinert Myotonic Dystrophy	Elevated hepatic transaminase, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Hyperchol...	ORPHA:273
Bent Bone Dysplasia Syndrome 2	Osteopenia, Hepatomegaly, Bowed humerus, Ulnar bowing, Femoral bowing, Decreased calvarial ossifi...	OMIM:620076
Cushing Syndrome Due To Ectopic Acth Secretion	Increased urinary cortisol level, Pancreatic adenocarcinoma, Diabetes mellitus, Impaired glucose ...	ORPHA:99889
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Epilepsia ...	OMIM:203700
Japanese Encephalitis	Hyponatremia, Neutrophilia, Bilateral tonic-clonic seizure, Focal motor seizure, Increased circul...	ORPHA:79139
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hepatomegaly, Short stature, Postaxial polydactyly, Splenomegaly, Postaxial hand polydactyly, Hor...	OMIM:617088
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Cardiomegaly, Splenomegaly, Seizure	OMIM:231005
Costello Syndrome	Hyperextensibility of the finger joints, Renal insufficiency, Hypoglycemia, Short stature, Wide a...	OMIM:218040
Woodhouse-Sakati Syndrome	Hyperlipidemia, Diabetes mellitus, Micropenis	OMIM:241080
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Johanson-Blizzard Syndrome	Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypocalcemia, Clinodactyly of the 5th finger, Mi...	OMIM:243800
Leptospirosis	Hepatomegaly, Pericarditis, Skin rash, Cellular urinary casts, Jaundice, Hepatitis, Uveitis, Lymp...	ORPHA:509
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Arachnodactyly, Bilateral tonic-clonic seizure, Large for gestational age, Micropenis, Slender bu...	ORPHA:457359
Combined Pituitary Hormone Deficiencies, Genetic Forms	Osteopenia, Pituitary dwarfism, Hypoglycemia, Growth delay, Seizure, Polydactyly, Delayed puberty...	ORPHA:95494
Aspartylglucosaminuria	Hepatomegaly, Aspartylglucosaminuria, Abnormal morphology of ulna, Splenomegaly, Arthritis, Seizu...	ORPHA:93
Homozygous Familial Hypercholesterolemia	Hyperlipidemia, Renal steatosis, Increased LDL cholesterol concentration, Renal artery stenosis, ...	ORPHA:391665
Ectodermal Dysplasia And Immunodeficiency 2	Splenomegaly, Defective production of NFKB1-dependent cytokines, Failure to thrive, Hepatomegaly	OMIM:612132
Non-Acquired Panhypopituitarism	Osteopenia, Pituitary dwarfism, Hypoglycemia, Short stature, Growth delay, Delayed puberty, Osteo...	ORPHA:90695
Renal Agenesis, Bilateral	Nonketotic hypoglycemia, Renal agenesis	ORPHA:1848
Charge Syndrome	Hypoplasia of the ulna, Renal agenesis, Down-sloping shoulders, Absent radius, Short thumb, Postn...	OMIM:214800
Holoprosencephaly 1	Seizure, Micropenis, Hypoglycemia, Short stature	OMIM:236100

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 Slc37a4

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 Slc37a4.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Development and characterization of an inducible mouse model for glycogen storage disease type Ib.	Journal of inherited metabolic disease (July 2018)	Slc37a4^{tm1c(EUCOMM)Wtsi} Slc37a4^{tm1a(EUCOMM)Wtsi}	29967951

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Slc37a4^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Slc37a4^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Slc37a4^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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