Gene: Uaca MGI:1919815

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

uveal autoantigen with coiled-coil domains and ankyrin repeats

Synonyms:

2700059D02Rik, nucling

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 Uaca 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 Uaca (0 diseases)
Human diseases predicted to be associated with Uaca (793 diseases)

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

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

Disease	Matching phenotypes	Source
Lymphoproliferative Syndrome, X-Linked, 2	Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hepatitis, Hemophagocytosis, ...	OMIM:300635
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Portal fibrosis, Increased total bilir...	OMIM:619868
Glycogen Storage Disease Vi	Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Increased hepatic glycog...	OMIM:232700
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati...	OMIM:616828
Macrophage Activation Syndrome	Hemophagocytosis, Elevated circulating alanine aminotransferase concentration, Neutropenia, Eleva...	ORPHA:158061
Congenital Disorder Of Glycosylation, Type Iip	Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ...	OMIM:616829
Glycine N-Methyltransferase Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypermethioninemia	OMIM:606664
Cholestasis, Progressive Familial Intrahepatic, 11	Abnormal circulating bilirubin concentration, Elevated circulating aspartate aminotransferase con...	OMIM:619874
Alpha-1-Antitrypsin Deficiency	Hepatic failure, Reduced circulating alpha-1-antitrypsin concentration, Nephrotic syndrome, Hepat...	ORPHA:60
Cholesterol-Ester Transfer Protein Deficiency	Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi...	ORPHA:79506
Immunodeficiency 51	Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous absc...	OMIM:613953
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Recurrent otitis media, Lymphopenia, Splenomegaly, Respiratory tract infection, Autoim...	ORPHA:444463
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Acute hepatic failure, Hepat...	OMIM:278000
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatic bridging fibrosis, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Cholestasi...	OMIM:619662
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Azoospermia, He...	OMIM:615703
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Neutropenia, Recurrent ph...	OMIM:308240
Cholesteryl Ester Storage Disease	Hepatic failure, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegal...	ORPHA:75234
Hypertriglyceridemia 2	Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:619324
Glycogen Storage Disease Ixa1	Elevated circulating hepatic transaminase concentration, Splenomegaly, Hyperuricemia, Hypercholes...	OMIM:306000
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per...	ORPHA:139507
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Increased LDL cholesterol concentration, Splenomegaly, Hypertriglyceridem...	OMIM:607616
Familial Hemophagocytic Lymphohistiocytosis	Hemophagocytosis, Erythroderma, Neutropenia, Hepatomegaly, Jaundice, Increased circulating interf...	ORPHA:540
Immunodeficiency 32B	Hypoalbuminemia, Pneumonia, Neutrophilia, Impaired oxidative burst, Abnormal circulating IgG leve...	OMIM:226990
Lipodystrophy, Congenital Generalized, Type 3	Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hypocalcemia, Hirsutism, Hypercholesterolemi...	OMIM:612526
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circula...	OMIM:613812
Hepatitis Delta	Hepatic failure, Hepatitis, Elevated circulating aspartate aminotransferase concentration, Cirrho...	ORPHA:402823
Immunodeficiency 104	Pneumonia, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Recurrent otitis media, Sple...	OMIM:608971
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:607765
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Skin rash, Splenomegaly, Hypertriglyceridemia	OMIM:619175
Hepatocellular Carcinoma	Micronodular cirrhosis, Subacute progressive viral hepatitis, Hepatocellular carcinoma	OMIM:114550
Alpha-1-Antitrypsin Deficiency	Elevated circulating hepatic transaminase concentration, Reduced circulating alpha-1-antitrypsin ...	OMIM:613490
X-Linked Agammaglobulinemia	Recurrent pneumonia, Abnormal lung morphology, Alopecia, Hepatitis, Osteomyelitis, Neoplasm, Hypo...	ORPHA:47
Sitosterolemia 2	Hypercholesterolemia, Elevated circulating sitosterol concentration	OMIM:618666
Complement Component C1S Deficiency	Hashimoto thyroiditis, Hepatitis	OMIM:613783
Griscelli Syndrome	Silver-gray hair, Hepatitis, Abnormal circulating lipid concentration, White hair, Ascites, Prema...	ORPHA:381
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I...	ORPHA:79303
Galactosemia Iv	Hepatomegaly, Prolonged neonatal jaundice, Hypergalactosemia	OMIM:618881
Immunodeficiency 109 With Lymphoproliferation	Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Pancytopenia, Co...	OMIM:620282
Beta-Thalassemia	Cholelithiasis, Hepatitis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Hypogonadotropic...	ORPHA:848
Hemophagocytic Lymphohistiocytosis, Familial, 4	Conjunctivitis, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Ski...	OMIM:603552
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbilirubinemia, S...	OMIM:620010
Avian Influenza	Hypoalbuminemia, Pneumonia, Myelitis, Elevated circulating hepatic transaminase concentration, In...	ORPHA:454836
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Hepatitis, Increased mean corpuscular hemoglobin concentration, Increased circula...	OMIM:194380
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Hepatitis, Lymphopenia, Hepatosp...	ORPHA:169160
Porphyria Cutanea Tarda	Portal inflammation, Hepatic steatosis, Decreased circulating hepcidin concentration, Hematologic...	ORPHA:101330
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hemophagocytosis, Hepatosplenomegaly, Hyperbilirubinemia, Pancytopenia, Hodgkin lymphoma, Hematol...	ORPHA:158057
Immunodeficiency 102	Decreased proportion of CD4-positive helper T cells, Hepatomegaly, Recurrent lower respiratory tr...	OMIM:301082
Citrullinemia, Type Ii, Neonatal-Onset	Elevated gamma-glutamyltransferase level, Hyperbilirubinemia, Hyperthreoninemia, Elevated circula...	OMIM:605814
Adult-Onset Still Disease	Neutrophilia, Elevated circulating hepatic transaminase concentration, Hepatitis, Abnormal circul...	ORPHA:829
Immunodeficiency 48	Pneumonia, Eczematoid dermatitis, Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, ...	OMIM:269840
Immunodeficiency, Common Variable, 1	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Recurrent...	OMIM:607594
Immunodeficiency 27A	Hypoalbuminemia, Pneumonia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased inflammator...	OMIM:209950
Idiopathic Achalasia	Recurrent aspiration pneumonia, Bronchitis, Decreased circulating prealbumin concentration	ORPHA:930
Cog4-Cdg	Recurrent upper respiratory tract infections, Elevated circulating hepatic transaminase concentra...	ORPHA:263501
Autoimmune Hepatitis	Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Vir...	ORPHA:2137
Apolipoprotein C-Ii Deficiency	Increased circulating chylomicron concentration, Splenomegaly, Pancreatitis, Hypercholesterolemia...	OMIM:207750
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transami...	OMIM:614480
Combined Immunodeficiency, X-Linked	Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-po...	OMIM:312863
Acute Lung Injury	Pneumonia, Diffuse alveolar hemorrhage, Increased circulating interleukin 6 concentration, Abnorm...	ORPHA:178320
Complement Component 4B Deficiency	Recurrent otitis media, Recurrent pneumonia, Recurrent sinusitis, Chronic active hepatitis	OMIM:614379
Autosomal Agammaglobulinemia	Verrucae, Bronchiectasis, Hepatitis, Osteomyelitis, Skin rash, Agammaglobulinemia, Arthritis, Sin...	ORPHA:33110
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Minimal change glomerulonephritis, Intraalveolar phospholipid accumulation, Hepatitis, Eczematoid...	OMIM:620565
Cholestasis-Lymphedema Syndrome	Elevated circulating hepatic transaminase concentration, Erysipelas, Neonatal cholestatic liver d...	OMIM:214900
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Elevated gamma-glutamyltransferase level, Increased urinary glycerol, Cholestasis, Hepatosplenome...	ORPHA:247598
Congenital Disorder Of Glycosylation, Type Iih	Elevated serum transaminases during infections, Elevated circulating aspartate aminotransferase c...	OMIM:611182
Congenital Enterovirus Infection	Hypoalbuminemia, Hepatic failure, Fetal ascites, Hepatitis, Cholestasis, Leukopenia, Pleural effu...	ORPHA:292
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam...	ORPHA:69663
Immunodeficiency By Defective Expression Of Mhc Class Ii	Abnormal CD4:CD8 ratio, Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Panh...	ORPHA:572
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Severe Combined Immunodeficiency, X-Linked	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgE, Decre...	OMIM:300400
Analbuminemia	Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen...	OMIM:616000
Distal Myopathy, Tateyama Type	Abnormal circulating creatine kinase concentration, Hypercholesterolemia	ORPHA:488650
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Hemochromatosis, Type 2B	Hepatic fibrosis, Increased circulating iron concentration, Elevated circulating hepatic transami...	OMIM:613313
Fetal Cytomegalovirus Syndrome	Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Anemia, Thrombo...	ORPHA:294
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Pneumonia, Atopic dermatitis, Recurrent upper respiratory tract infections, Abnormally low T cell...	OMIM:618806
Bile Acid Synthesis Defect, Congenital, 4	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:214950
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia	OMIM:608320
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Hemophagocytosis, Increased circulating ferritin concentration, ...	OMIM:613011
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C...	ORPHA:37042
Primary Biliary Cholangitis	Elevated gamma-glutamyltransferase level, Xanthelasma, Elevated circulating alkaline phosphatase ...	ORPHA:186
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Hepatic...	ORPHA:209902
Trichohepatoenteric Syndrome 2	Decreased circulating iron concentration, Trichorrhexis nodosa, Brittle hair, Woolly hair, Cirrho...	OMIM:614602
Combined Immunodeficiency Due To Dock8 Deficiency	Pneumonia, Atopic dermatitis, Verrucae, Chronic otitis media, Increased circulating IgE level, Sq...	ORPHA:217390
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Acute kid...	ORPHA:567548
Galactosemia Iii	Aminoaciduria, Galactosuria, Splenomegaly, Decreased beta-galactosidase activity, Hepatomegaly, J...	OMIM:230350
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia	OMIM:615863
Autoimmune Lymphoproliferative Syndrome	Neoplasm of the skin, Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased prop...	ORPHA:3261
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Anemia of inadequate pr...	OMIM:237800
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibod...	OMIM:247800
Aspergillosis	Pneumonia, Keratitis, Hepatitis, Increased circulating IgE level, Osteomyelitis, Pleural effusion...	ORPHA:1163
Immunodeficiency 56	Hepatic failure, Recurrent pneumonia, Panhypogammaglobulinemia, Recurrent otitis media, Recurrent...	OMIM:615207
Activated Pi3K-Delta Syndrome	Pneumonia, Lymphoma, Recurrent otitis media, Decreased circulating antibody level, Splenomegaly, ...	ORPHA:397596
Sweet Syndrome	Inflammation of the large intestine, Predominantly dermal neutrophilic infiltrate, Chronic lympha...	ORPHA:3243
Galactokinase Deficiency	Hepatosplenomegaly, Abnormal circulating enzyme concentration or activity, Hypercholesterolemia, ...	ORPHA:79237
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Lymphoma, Recurrent respiratory infections...	OMIM:300853
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgG level, Decreased circulating IgE, Hepatitis, Abnormal circulating IgM l...	OMIM:308230
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Cholestatic liver disease, Giant cell hepatitis, Nephropathy, Elevated circulating hepatic transa...	OMIM:613404
Immunodeficiency 91 And Hyperinflammation	Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Increased circulati...	OMIM:619644
Bacterial Toxic-Shock Syndrome	Abscess, Glomerulonephritis, Recurrent skin infections, Elevated circulating creatinine concentra...	ORPHA:36234
Ras-Associated Autoimmune Leukoproliferative Disorder	Leukemia, Lymphoma, Recurrent respiratory infections, Pancytopenia, Splenomegaly, Increased circu...	OMIM:614470
Citrullinemia Type Ii	Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Enure...	ORPHA:247585
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta...	OMIM:616278
Congenital Bile Acid Synthesis Defect Type 4	Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Elevated circulating hepatic tra...	ORPHA:79095
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati...	OMIM:619632
Hyperlipidemia, Familial Combined, 3	Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ...	OMIM:144250
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia	OMIM:301033
Legionnaires Disease	Abnormal lung morphology, Hepatitis, Lymphopenia, Abnormal pleura morphology, Renal insufficiency...	ORPHA:549
Alpha-Heavy Chain Disease	Alopecia, Lymphoma, Ascites, Splenomegaly, Hypocalcemia, Dysgammaglobulinemia, Anemia, Hepatomegaly	ORPHA:100025
Graft Versus Host Disease	Pneumonia, Elevated circulating hepatic transaminase concentration, Inflammatory abnormality of t...	ORPHA:39812
Congenital Generalized Lipodystrophy	Clitoral hypertrophy, Precocious puberty in females, Hypertrichosis, Overgrowth of external genit...	ORPHA:528
Hypercholesterolemia, Familial, 4	Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:603813
Wilson Disease	Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Acute ...	ORPHA:905
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:264580
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra...	OMIM:616860
Congenital Disorder Of Glycosylation, Type Iiaa	Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ...	OMIM:620454
Melioidosis	Pneumonia, Brain abscess, Foot osteomyelitis, Hepatitis, Cutaneous abscess, Parotitis, Abnormalit...	ORPHA:31202
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Lymphoma, Recurrent ...	OMIM:240500
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Decreased liver function, Acute hepatitis, Hyperornithinemia, Hyperammonemia, Hepatomegaly, Homoc...	OMIM:238970
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Hypercholesterolemia	ORPHA:94124
Immunodeficiency 75 With Lymphoproliferation	Lymphoma, Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Recurrent re...	OMIM:619126
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Abnormal circulating e...	ORPHA:79240
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Recurre...	ORPHA:183675
Immunodeficiency 47	Hepatic bridging fibrosis, Decreased circulating total IgG, Chronic decreased circulating total I...	OMIM:300972
Primary Sclerosing Cholangitis	Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho...	ORPHA:171
Congenital Disorder Of Glycosylation, Type Iir	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ...	OMIM:301045
Progressive Familial Intrahepatic Cholestasis	Cholestasis, Neoplasm, Splenomegaly, Hypocalcemia, Hepatomegaly, Jaundice	ORPHA:172
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Alopecia, Sparse eyebrow, Erysipelas, Sparse eyelashes, Elevated circulating creatine kinase conc...	OMIM:615704
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Recurrent otitis media, Facial papilloma, Autoimmune hemolytic anemia, ...	OMIM:619220
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Inflammation of the large intestine, Psoriasiform dermatitis, Hepatomegaly, Recurrent lower respi...	ORPHA:436159
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Hypercholesterolemia	OMIM:607250
Congenital Disorder Of Glycosylation, Type It	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatitis, Rec...	OMIM:614921
Sitosterolemia 1	Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Increased circulating lactate dehyd...	OMIM:210250
Hepatic Veno-Occlusive Disease	Elevated circulating hepatic transaminase concentration, Increased total bilirubin, Ascites, Rena...	ORPHA:890
Lysinuric Protein Intolerance	Hemophagocytosis, Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperglycinemia, I...	ORPHA:470
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Inflammation of the large in...	ORPHA:562639
Congenital Disorder Of Glycosylation, Type Iik	Elevated circulating aspartate aminotransferase concentration, Elevated circulating creatine kina...	OMIM:614727
Heme Oxygenase 1 Deficiency	Nephritis, Diffuse alveolar hemorrhage, Increased circulating lactate dehydrogenase concentration...	OMIM:614034
Drug Reaction With Eosinophilia And Systemic Symptoms	Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Inters...	ORPHA:139402
Leishmaniasis	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Pancytopenia, Leukopeni...	ORPHA:507
Immunodeficiency 114, Folate-Responsive	Atopic dermatitis, Decreased circulating IgG level, Increased circulating ferritin concentration,...	OMIM:620603
Glycogen Storage Disease Iii	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Elevat...	OMIM:232400
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Cholestatic liver disease, Giant cell hepatitis, Elevated gamma-glutamyltransferase level, Elevat...	OMIM:208085
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, R...	OMIM:615513
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Recurrent respiratory infections, Sparse lateral eyebrow, Hepatitis	ORPHA:363523
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia, Eczematoid dermatitis, Hepatitis, Increased circulating IgE level, Decreased FOXP3-expr...	OMIM:304790
Hyperinsulinemic Hypoglycemia, Familial, 8	Increased C-peptide level, Hypercholesterolemia, Hyperammonemia	OMIM:620211
Hemochromatosis, Type 2A	Increased circulating iron concentration, Increased circulating ferritin concentration, Azoosperm...	OMIM:602390
Whim Syndrome 1	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Verrucae, Abnormal...	OMIM:193670
Harderoporphyria	Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Increased urinary porp...	OMIM:618892
Congenital Isolated Acth Deficiency	Prolonged neonatal jaundice, Decreased circulating cortisol level, Hyponatremia, Hepatitis	ORPHA:199296
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Recurrent respiratory infections, Splenomegaly	ORPHA:139406
Immunodeficiency, Common Variable, 6	Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat...	OMIM:613496
Mhc Class Ii Deficiency 1	Recurrent upper respiratory tract infections, Chronic mucocutaneous candidiasis, Panhypogammaglob...	OMIM:209920
Immunodeficiency 52	Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulat...	OMIM:617514
Galactose Mutarotase Deficiency	Decreased liver function, Cholestasis, Abnormal circulating enzyme concentration or activity, Hep...	ORPHA:570422
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Clitoral hypertrophy, Decreased testicular size, External genital hypoplasia, Nail dystrophy, Ovo...	OMIM:610644
Immunodeficiency 43	Hypoalbuminemia, Decreased circulating IgG level, Reduced natural killer cell count, Decreased sp...	OMIM:241600
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Lymphadenitis, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired ne...	OMIM:618986
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Pneumonia, Abnormally low T cell receptor excision circle level, Reduced natural killer cell coun...	ORPHA:276
Omenn Syndrome	Pneumonia, Severe B lymphocytopenia, Alopecia, Splenomegaly, Hypoplasia of the thymus, Eosinophil...	OMIM:603554
Erythroleukemia, Familial, Susceptibility To	Leukemia, Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, ...	OMIM:133180
Agammaglobulinemia, X-Linked	Recurrent otitis media, Prostatitis, Neutropenia, Bronchiolitis obliterans, Recurrent lower respi...	OMIM:300755
Caspase 8 Deficiency	Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Decreased CD4:CD8 ratio, Decre...	OMIM:607271
Cholestasis-Lymphedema Syndrome	Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,...	ORPHA:1414
Q Fever	Hepatosplenomegaly, Increased circulating antibody level, Hematuria, Hepatomegaly, Endocarditis, ...	ORPHA:781
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic ...	OMIM:602347
Immunodeficiency 82 With Systemic Inflammation	Anoperineal fistula, Pustular rash, Decreased circulating total IgG, Recurrent otitis media, Elev...	OMIM:619381
Hyperlipoproteinemia, Type I	Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid...	OMIM:238600
Galactosemia I	Increased level of galactitol in red blood cells, Aminoaciduria, Galactosuria, Decreased liver fu...	OMIM:230400
Biliary Atresia, Extrahepatic	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Unconjugated hyperbilir...	OMIM:210500
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hyper...	ORPHA:369
Isolated Polycystic Liver Disease	Increased total bilirubin, Multiple renal cysts, Hepatomegaly, Polycystic liver disease, Abnormal...	ORPHA:2924
Lymphoproliferative Syndrome 2	Recurrent pneumonia, Aplastic anemia, Hemophagocytosis, Lymphoma, Ascites, Hepatosplenomegaly, Pa...	OMIM:615122
Bile Acid Conjugation Defect 1	Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Elevated circulat...	OMIM:619232
Immunodeficiency 92	Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta...	OMIM:619652
Mitochondrial Myopathy, Infantile, Transient	Hepatomegaly, Decreased circulating carnitine concentration, Increased serum pyruvate, Elevated c...	OMIM:500009
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	OMIM:600649
Hemochromatosis, Type 4	Increased circulating ferritin concentration, Hepatic steatosis, Anemia, Cirrhosis, Osteoarthriti...	OMIM:606069
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Ane...	OMIM:615285
Mccune-Albright Syndrome	Renal phosphate wasting, Increased circulating cortisol level, Increased circulating prolactin co...	ORPHA:562
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Unconjugated hyperbilirubinemia, Reduced red cell pyruvate kinase level, Erythroi...	OMIM:266200
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,...	OMIM:618528
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Atopic dermatitis, Ulcerative colitis, Increased circulating IgE level, Colonic eosino...	OMIM:617638
Immunodeficiency, Common Variable, 8, With Autoimmunity	Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto...	OMIM:614700
Tafro Syndrome	Increased circulating lactate dehydrogenase concentration, Increased circulating interleukin 6 co...	ORPHA:457077
Combined Oxidative Phosphorylation Deficiency 34	Hepatic failure, Elevated circulating creatinine concentration, Pancytopenia, Hepatic steatosis, ...	OMIM:617872
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypocholesterolemia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly	OMIM:610539
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Thymoma, Aplasia/Hypoplasia of the spleen, Rheumatoid arthritis, Biliary cirr...	ORPHA:227990
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly, Decreased circulating total IgM	OMIM:606445
Hepatitis, Fulminant Viral, Susceptibility To	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hashimoto thyroiditis, ...	OMIM:618549
Diffuse Neonatal Hemangiomatosis	Abnormal vagina morphology, Ascites, Renal insufficiency, Anemia, Hemangiomatosis, Thrombocytopen...	ORPHA:2123
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Inflammatory abnormality of the skin, Lymphopenia, Hepatosplenomegaly, Abnormal circulating inter...	ORPHA:391487
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Recurrent otitis media, Hypercholesterolemia, Precocious puberty	ORPHA:254531
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Herpes simplex encephalitis, Recurrent otitis media, Increased circulating IgE level, Hepatosplen...	OMIM:618982
Anemia, Hypochromic Microcytic, With Iron Overload 2	Increased circulating ferritin concentration, Hypogonadism, Sideroblastic anemia, Azoospermia, Sp...	OMIM:615234
Cholestasis, Benign Recurrent Intrahepatic, 1	Increased serum bile acid concentration, Intermittent jaundice, Pancreatitis, Intrahepatic choles...	OMIM:243300
Nephrotic Syndrome, Type 11	Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Stage 5 c...	OMIM:616730
C1Q Deficiency 2	Discoid lupus rash, Atelectasis, Recurrent otitis media, Malar rash, Chilblains, Anemia, Arthriti...	OMIM:620321
Cystic Echinococcosis	Peritoneal abscess, Pulmonary cyst, Elevated gamma-glutamyltransferase level, Hyperbilirubinemia,...	ORPHA:400
Immunodeficiency 62	Decreased proportion of memory B cells, Recurrent upper respiratory tract infections, Decreased c...	OMIM:618459
Cog7-Cdg	Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Elevated circulating...	ORPHA:79333
Griscelli Syndrome Type 2	Hemophagocytosis, Premature graying of hair, Pancytopenia, Hyperlipidemia, Splenomegaly, Neutrope...	ORPHA:79477
Temple Syndrome	Precocious puberty, Recurrent otitis media, Decreased testicular size, Cryptorchidism, Hyperchole...	OMIM:616222
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc...	ORPHA:567983
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Panhypogammaglobulinemia, Otitis media, Purulent rhinitis, Arthritis, B lymphocytopeni...	OMIM:601457
Isolated Congenital Hypoglossia/Aglossia	Hamartoma, Aspiration pneumonia	ORPHA:141152
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Hepatosplenomegaly, Pulmonary hemorrhage, Pancytopenia, A...	ORPHA:79124
Hemochromatosis, Type 1	Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration...	OMIM:235200
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Pneumonia, Recurrent upper respiratory tract infections, Decreased urinary urate, L...	OMIM:613179
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Congenital pulmonary airway malformation, Lymphopenia, Psoriasiform dermatitis, Interface hepatit...	OMIM:243150
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Aspiration pneumonia, Elevated circulating creatine kinase concentration	ORPHA:90117
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Hepatomegaly, Abnormality of the liver, Decreased circulating carnitine concentration, Mildly ele...	ORPHA:254864
T-Cell Immunodeficiency With Thymic Aplasia	Pneumonia, Eczematoid dermatitis, Hypocalcemic tetany, Decreased proportion of naive T cells, Apl...	ORPHA:83471
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Thymoma, Aplasia/Hypoplasia of the spleen, Rheumatoid arthritis, Biliary cirr...	ORPHA:227982
Tyrosinemia Type 1	Generalized aminoaciduria, Acute hepatic failure, Splenomegaly, Hepatomegaly, Hepatocellular carc...	ORPHA:882
Autosomal Dominant Severe Congenital Neutropenia	Pneumonia, Periodontitis, Aplastic anemia, Lymphopenia, Recurrent aphthous stomatitis, Myelodyspl...	ORPHA:486
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Alaninuria, Elevated...	OMIM:615158
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:235555
Isolated Agammaglobulinemia	Pneumonia, Abnormality of neutrophils, Abnormal lymphocyte morphology, Otitis media, Skin rash, A...	ORPHA:229717
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Pneumonia, Abnormal T cell count, Panhypogammaglobulinemia, Recurrent otitis media, Pyoderma, Dec...	OMIM:307200
Congenital Disorder Of Glycosylation, Type Iic	Pneumonia, Reduction of neutrophil motility, Bronchiolitis, Periodontitis, Recurrent otitis media...	OMIM:266265
Dominant Beta-Thalassemia	Hepatic fibrosis, Abnormality of iron homeostasis, Reduced hemoglobin A, Extramedullary hematopoi...	ORPHA:231226
Immunodeficiency 40	Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Elevat...	OMIM:616433
Laron Syndrome	Hypoplasia of penis, Hypercholesterolemia, Osteoarthritis	ORPHA:633
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Xanthelasma, Increased LDL cholesterol concentration, Go...	ORPHA:412
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension, Splenic cys...	OMIM:610199
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia, Microcytic anemia, Hepatic steatosis, Pancreatitis, Elevated circulating alanine...	OMIM:618805
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Elevated circulating aspartate aminotransferase concentration, Decreased plasma free carnitine, H...	OMIM:619048
Microlissencephaly	Pneumonia	ORPHA:1083
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly, Hypertriglyceridemia	OMIM:615924
Gaisböck Syndrome	Increased red blood cell count, Nephrocalcinosis, Increased mean corpuscular hemoglobin concentra...	ORPHA:90041
Autoimmune Polyendocrine Syndrome, Type Ii	Thymoma, Alopecia, Hepatitis, Chronic mucocutaneous candidiasis, Exocrine pancreatic insufficienc...	OMIM:269200
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
Lysosomal Acid Lipase Deficiency	Hepatosplenomegaly, Hypersplenism, Xanthelasma, Elevated circulating alkaline phosphatase concent...	ORPHA:275761
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Inflammation of the large intestine, Periodontitis, Xanthelasma, Hepatic steatosis, Polycystic ov...	ORPHA:79259
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ...	OMIM:267700
Propionic Acidemia	Hepatomegaly, Organic aciduria, Propionyl-CoA carboxylase deficiency, Hyperammonemia	ORPHA:35
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Anemia, Renal insufficiency, Hyperammonemia	ORPHA:28
Wilson Disease	Hypouricemia, Acute hepatic failure, Hyperbilirubinemia, Hepatic steatosis, Cirrhosis, Elevated c...	OMIM:277900
Morgagni-Stewart-Morel Syndrome	Hyperuricemia, Hirsutism, Hypercholesterolemia, Osteoarthritis, Acne	ORPHA:77296
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Pneumonia, Atopic dermatitis, Nephrotic syndrome, Hepatitis, Increased circul...	OMIM:615846
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level...	OMIM:618534
Common Variable Immunodeficiency	Pneumonia, Elevated circulating hepatic transaminase concentration, Bronchiectasis, Lymphoma, Emp...	ORPHA:1572
Aicardi-Goutieres Syndrome 6	Chilblains, Splenomegaly, Increased circulating Interferon-alpha concentration, Thrombocytopenia,...	OMIM:615010
Immunodeficiency 13	Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent otitis media, Lympho...	OMIM:615518
Gaucher Disease Type 1	Hepatosplenomegaly, Hypersplenism, Pancytopenia, Increased circulating antibody level, Hematuria,...	ORPHA:77259
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration	OMIM:208920
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Decreased circulating IgG level, Recurrent upper respiratory tract infections...	OMIM:616100
Congenital Analbuminemia	Hypoalbuminemia, Hyperlipidemia, Increased circulating antibody level, Hypercholesterolemia, Recu...	ORPHA:86816
Cryoglobulinemic Vasculitis	Abnormality of the liver, Renal insufficiency, Splenomegaly, Hematuria, Proteinuria, Keratoconjun...	ORPHA:91138
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatitis, Hypersplenism, Pancytopenia, Portal hypertension, Splenomegaly, Decreased circulating ...	OMIM:613385
Staphylococcal Necrotizing Pneumonia	Pneumonia, Leukopenia, Pleural effusion, Leukocytosis, Pneumothorax, Acute infectious pneumonia, ...	ORPHA:36238
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Splenomegaly, Elevated circulating alkaline phosphatase concentration, ...	OMIM:601847
Microsporidiosis	Lymphadenitis, Urethritis, Abnormality of the spleen, Decreased proportion of CD4-positive helper...	ORPHA:2552
Glycogen Storage Disease Ixb	Splenomegaly, Hyperuricemia, Increased hepatic glycogen content, Hepatomegaly, Reduced hepatic ph...	OMIM:261750
Combined Immunodeficiency Due To Zap70 Deficiency	Pneumonia, Nephrotic syndrome, Lymphadenitis, Chronic mucocutaneous candidiasis, Lymphoma, Decrea...	ORPHA:911
Omenn Syndrome	Pneumonia, Alopecia, Lymphoma, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Anemia...	ORPHA:39041
Adult Acute Respiratory Distress Syndrome	Pneumonia, Abnormal circulating interleukin concentration, Abnormality of tumor necrosis factor s...	ORPHA:70578
Carnitine Palmitoyltransferase I Deficiency	Elevated circulating hepatic transaminase concentration, Ketonuria, Dicarboxylic aciduria, Elevat...	OMIM:255120
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Hepatomegaly, Abnormal circulating creatine kinase concentration, Elevated circulating hepatic tr...	ORPHA:369840
Neonatal Alloimmune Neutropenia	Pneumonia, Jaundice, Neutropenia in presence of anti-neutropil antibodies	ORPHA:464370
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated circulating acylcarnitine concentration, Hepatic failure, Elevated circulating hepatic t...	ORPHA:228305
Isolated Sedoheptulokinase Deficiency	Cholestatic liver disease, Hepatitis, Cholestasis, Portal hypertension, Renal insufficiency, Anem...	ORPHA:440713
Hemophagocytic Syndrome Associated With An Infection	Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Increased circulating ...	ORPHA:158048
Pediatric Hepatocellular Carcinoma	Hepatic fibrosis, Hepatic necrosis, Portal vein thrombosis, Hepatomegaly, Elevated circulating al...	ORPHA:33402
Systemic-Onset Juvenile Idiopathic Arthritis	Pleural effusion, Splenomegaly, Skin rash, Elevated circulating C-reactive protein concentration,...	ORPHA:85414
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro...	ORPHA:75564
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Renal insufficiency, Hyperammonemia, Renal tubular dysfunction, Anemia, Pancreatitis, Neutropenia...	ORPHA:289916
Cholestasis, Benign Recurrent Intrahepatic, 2	Intrahepatic cholestasis, Cholelithiasis, Elevated circulating alkaline phosphatase concentration...	OMIM:605479
Liver Failure, Infantile, Transient	Hypoalbuminemia, Decreased circulating IgG level, Elevated circulating hepatic transaminase conce...	OMIM:613070
Lmna-Related Cardiocutaneous Progeria Syndrome	Alopecia universalis, Premature graying of hair, Emphysema, Squamous cell carcinoma of the skin, ...	ORPHA:363618
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Pneumonia, Abnormally low T cell receptor excision circle level, Recurrent upper respiratory trac...	OMIM:602450
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Allergic rhinitis, Recurrent otitis media, Increased circulating IgE level, Decreased proportion ...	OMIM:243700
Lichen Planopilaris	Alopecia, Hepatitis, Neoplasm of the oral cavity	ORPHA:525
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome	Aspiration pneumonia	OMIM:609528
Hepatic Lipase Deficiency	Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia	OMIM:614025
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Elevated gamma-glu...	ORPHA:53035
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Recurrent pneumonia, Alopecia, Decreased circulating antibody level, Autoimmu...	OMIM:616576
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Recurrent otitis media, Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymph...	OMIM:618495
Anemia, Congenital Dyserythropoietic, Type Iv	Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubinemia, Reduced haptoglobin level, A...	OMIM:613673
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Aspiration pneumonia	OMIM:619477
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Increased circulating IgE level, Lymphopenia, Aplasia of th...	OMIM:102700
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypoalbuminemia, Urinary bladder sphincter dysfunction, Elevated circulating creatine kinase conc...	ORPHA:64753
Interstitial Cystitis	Functional abnormality of the bladder, Abnormal vagina morphology, Urinary bladder inflammation, ...	ORPHA:37202
Glycogen Storage Disease Xii	Normocytic anemia, Cholelithiasis, Increased circulating lactate dehydrogenase concentration, Hyp...	OMIM:611881
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Glycogen Storage Disease Ixc	Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen...	OMIM:613027
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Hodgkin lymphoma, Decreased proportion of class-switched memory B cells, Glomerulon...	OMIM:619375
Classic Mycosis Fungoides	Neoplasm of the skin, Alopecia, Eczematoid dermatitis, Lymphoma, Abnormal lymphocyte morphology, ...	ORPHA:2584
Ebola Hemorrhagic Fever	Hepatitis, Lymphopenia, Leukopenia, Increased circulating antibody level, Thrombocytopenia, Macul...	ORPHA:319218
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Renal insufficiency, Hyperammonemia, Splenomegaly, Anemia, Pancreatitis, Neutropenia, Thrombocyto...	ORPHA:79312
Congenital Bile Acid Synthesis Defect Type 1	Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple...	ORPHA:79301
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Pituitary adenoma, Hepatitis, Hyperuricemia, Macrocytic anemia, Hyponatremia, ...	ORPHA:199299
Infantile Sialic Acid Storage Disease	Nephrotic syndrome, Fair hair, Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymp...	OMIM:269920
Tularemia	Pneumonia, Brain abscess, Cutaneous abscess, Pleural effusion, Otitis media, Skin rash, Leukocyto...	ORPHA:3392
Spondyloenchondrodysplasia	Pneumonia, Chronic kidney disease, Granuloma, Hepatitis, Decreased response to growth hormone sti...	ORPHA:1855
Young Syndrome	Congenital pulmonary airway malformation, Azoospermia, Recurrent bronchitis, Recurrent sinopulmon...	OMIM:279000
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Incre...	OMIM:603553
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Hepatitis, Acute hepatic failure, Hepatosplenomegaly, Hypersplenism, Portal hypertension, Pancyto...	ORPHA:228426
Felty Syndrome	Recurrent pneumonia, Lymphoma, Recurrent respiratory infections, Abnormal lymphocyte morphology, ...	ORPHA:47612
Dubin-Johnson Syndrome	Abnormal urinary color, Abnormality of the liver, Biliary tract abnormality, Hepatomegaly, Jaundi...	ORPHA:234
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Lymphopenia, Leukopenia, Splenomegaly, Decreased circulating tot...	OMIM:620210
Vitamin B12-Unresponsive Methylmalonic Acidemia	Leukopenia, Renal insufficiency, Hyperammonemia, Macrocytic anemia, Anemia, Pancreatitis, Thrombo...	ORPHA:27
Wolman Disease	Acute hepatic failure, Hepatomegaly, Reduced lysosomal acid lipase activity, Splenomegaly	OMIM:620151
Galactose Epimerase Deficiency	Hepatomegaly, Jaundice, Splenomegaly, Aminoaciduria	ORPHA:79238
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Hyperbili...	OMIM:616689
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatitis, Decreased li...	ORPHA:415
Immunodeficiency 60 And Autoimmunity	Decreased proportion of memory B cells, Decreased circulating IgG level, Bronchiectasis, Pancytop...	OMIM:618394
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Lymphopenia, Decre...	OMIM:616005
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Elevated urinary 3-hydroxybutyric acid, ...	ORPHA:42
Immunodeficiency 110 With Lymphoproliferation	Recurrent upper respiratory tract infections, Verrucae, Recurrent pneumonia, Chronic mucocutaneou...	OMIM:614868
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated circulating hepatic transaminase concentration, Lymphopenia, Splenomegaly, Skin rash, In...	OMIM:617591
Kawasaki Disease	Hypoalbuminemia, Hepatitis, Conjunctivitis, Abnormal pulmonary interstitial morphology, Sterile p...	ORPHA:2331
Autoinflammation With Arthritis And Dyskeratosis	Laryngeal papilloma, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Punctate kerat...	OMIM:617388
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Recurrent otitis media, Hypercholesterolemia, Cryptorchidism, Precocious puberty	ORPHA:96184
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Decreased circulating carnitine concentration, Hepatocellular necrosis, Dica...	OMIM:201475
Schnitzler Syndrome	Lymphoma, Leukocytosis, Skin rash, Splenomegaly, Anemia, Arthritis, Hepatomegaly, Increased circu...	ORPHA:37748
Simple Cryoglobulinemia	Nephritis, Monoclonal immunoglobulin M proteinemia, Nephrotic syndrome, Paraproteinemia, Renal in...	ORPHA:91139
Ciliary Dyskinesia, Primary, 9	Pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Chronic sinusitis, Chro...	OMIM:612444
Postinfectious Vasculitis	Pneumonia, Bacterial endocarditis, Inflammatory abnormality of the skin, Elevated haptoglobin lev...	ORPHA:48435
Shwachman-Diamond Syndrome	Aplastic anemia, Hypopituitarism, Pancytopenia, Increased serum bile acid concentration, Impaired...	ORPHA:811
Carnitine Deficiency, Systemic Primary	Decreased circulating carnitine concentration, Dicarboxylic aciduria, Elevated circulating aspart...	OMIM:212140
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated circulating hepatic transaminase concentration, Long eyelashes, Cardiomegaly, Hyperproli...	OMIM:619064
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreas...	OMIM:614069
Babesiosis	Hepatic failure, Leukopenia, Renal insufficiency, Splenomegaly, Thrombocytopenia, Recurrent phary...	ORPHA:108
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Elevated gamma-glutamyltransferase level, Elevated circulating creatinine concentration, Stage 5 ...	OMIM:613095
Mu-Heavy Chain Disease	Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Increased circulating ...	ORPHA:100024
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Recurrent upper respiratory tract infections, Eczematoid dermatitis, Exocrine pancreatic insuffic...	OMIM:615952
B4Galt1-Cdg	Elevated circulating hepatic transaminase concentration, Inflammatory abnormality of the skin, Ab...	ORPHA:79332
Galloway-Mowat Syndrome 7	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Eczematoid dermatitis, Sta...	OMIM:618348
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Hepatic failure, Portal fibr...	OMIM:617394
Immunodeficiency 42	Recurrent aphthous stomatitis, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of...	OMIM:616622
Mitochondrial Pyruvate Carrier Deficiency	Hepatomegaly, Increased serum pyruvate, Organic aciduria	OMIM:614741
Tangier Disease	Decreased HDL cholesterol concentration, Splenomegaly, Nail dystrophy, Elevated circulating apoli...	OMIM:205400
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Lymphoma, Splenomegaly, B-cell lymphoma, Hepatomegaly, Breast carcinoma	ORPHA:86893
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, E...	OMIM:251880
Primary Sjögren Syndrome	Arteritis, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Lymphocytic intersti...	ORPHA:289390
Amyloidosis, Hereditary Systemic 2	Nephropathy, Cholestasis, Skin rash, Splenomegaly, Proteinuria, Hematuria, Hepatomegaly, Nephroti...	OMIM:105200
Brucellosis	Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Elevated...	ORPHA:1304
Cirrhosis, Familial	Increased level of L-fucose in urine, Biliary cirrhosis, Micronodular cirrhosis, Ascites, Increas...	OMIM:215600
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia, Hepatomegaly, Jaundice	OMIM:613977
Muscular Hypertonia, Lethal	Pneumonia	OMIM:254120
Whim Syndrome	Pneumonia, Recurrent upper respiratory tract infections, Verrucae, Lymphadenitis, Recurrent pneum...	ORPHA:51636
Insulin-Resistance Syndrome Type B	Polycystic ovaries, Hodgkin lymphoma, Increased circulating IgA level, Multiple myeloma, Alopecia...	ORPHA:2298
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemoglobin, Splenomegaly, Erythroc...	OMIM:603902
Immunodeficiency 57 With Autoinflammation	Inflammation of the large intestine, Reduced natural killer cell count, Partial absence of specif...	OMIM:618108
Pyruvate Dehydrogenase E3 Deficiency	Increased urine alpha-ketoglutarate concentration, Elevated circulating branched chain amino acid...	ORPHA:2394
Combined Oxidative Phosphorylation Deficiency 9	Elevated gamma-glutamyltransferase level, Elevated circulating aspartate aminotransferase concent...	OMIM:614582
Fusariosis	Abnormality of the spleen, Lymphopenia, Hematological neoplasm, Neutropenia, Granuloma, Osteomyel...	ORPHA:228119
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Atopic dermatitis, Recurrent pneumonia, Alopecia, Eczematoid dermatitis, Cutaneous abscess, Chron...	OMIM:618282
Gaucher Disease	Pancytopenia, Increased circulating antibody level, Hematuria, Cirrhosis, Polyclonal elevation of...	ORPHA:355
Lipodystrophy, Familial Partial, Type 2	Decreased HDL cholesterol concentration, Labial pseudohypertrophy, Hepatic steatosis, Polycystic ...	OMIM:151660
Caroli Syndrome	Hypersplenism, Hyperbilirubinemia, Congenital hepatic fibrosis, Elevated circulating alkaline pho...	ORPHA:480520
Mcleod Syndrome	Elevated gamma-glutamyltransferase level, Increased circulating lactate dehydrogenase concentrati...	OMIM:300842
Mucopolysaccharidosis Type 7	Hepatitis, Ascites, Abnormal pleura morphology, Splenomegaly, Mucopolysacchariduria, Recurrent re...	ORPHA:584
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Anemia of inadequa...	ORPHA:231222
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Recurrent pneumonia, Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegaly, Abscess...	OMIM:150550
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat...	OMIM:605911
Congenital Disorder Of Glycosylation, Type Iij	Hepatic failure, Elevated circulating hepatic transaminase concentration, Splenomegaly, Elevated ...	OMIM:613489
Alstrom Syndrome	Nephritis, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Alopecia...	OMIM:203800
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal insufficienc...	OMIM:619468
Interstitial Lung And Liver Disease	Aminoaciduria, Hepatic fibrosis, Hepatic failure, Elevated gamma-glutamyltransferase level, Intra...	OMIM:615486
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Pneumonia, Abnormal female external genitalia morphology, Endometrial carcinoma, Adrenal hyperpla...	ORPHA:90790
Sézary Syndrome	Neoplasm of the skin, Alopecia, Lymphoma, Abnormal pleura morphology, Abnormal lymphocyte morphol...	ORPHA:3162
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Eczematoid dermatitis,...	OMIM:242700
Mpi-Cdg	Hypoalbuminemia, Hepatic fibrosis, Decreased liver function, Abnormal circulating enzyme concentr...	ORPHA:79319
Smith-Magenis Syndrome	Synophrys, Hypercholesterolemia, Hypertriglyceridemia	OMIM:182290
Mirage Syndrome	Hypospadias, Microphallus, Aspiration pneumonia, Lymphopenia, Leukopenia, Myelodysplasia, Decreas...	OMIM:617053
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Pneumonia, Increased circulating free fatty acid level, Elevated circulating hepatic transaminase...	ORPHA:26793
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Atopic dermatitis, Recurrent upper respiratory tract infections, Recurrent pneumonia, Reduced nat...	OMIM:619752
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Pneumonia, Right ventricular hypertrophy, Elevated circulating creatine kinase concentration	OMIM:253700
Immunodeficiency With Hyper-Igm, Type 4	Recurrent upper respiratory tract infections, Osteomyelitis, Autoimmune hemolytic anemia, Autoimm...	OMIM:608184
Congenital Disorder Of Glycosylation, Type Iil	Elevated gamma-glutamyltransferase level, Inflammation of the large intestine, Elevated circulati...	OMIM:614576
Immunodeficiency 7	Recurrent otitis media, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Patchy alop...	OMIM:615387
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Elevated gamma-glutamyltransferase level, Elevated cir...	OMIM:619463
Hereditary Pulmonary Alveolar Proteinosis	Crazy paving pattern, Acute infectious pneumonia, Abnormal circulating protein concentration, Ele...	ORPHA:264675
Leptospirosis	Uveitis, Acute kidney injury, Hepatitis, Pulmonary hemorrhage, Pleural effusion, Skin rash, Eleva...	ORPHA:509
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Increased C-peptide level, Hepatic steatosis, Hypertriglyceridemia	OMIM:615238
Cholestasis, Progressive Familial Intrahepatic, 1	Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom...	OMIM:211600
Wolcott-Rallison Syndrome	Hypoalbuminemia, Chronic kidney disease, Elevated circulating hepatic transaminase concentration,...	ORPHA:1667
Mucopolysaccharidosis-Plus Syndrome	Low posterior hairline, Neutropenia, Hepatomegaly, Nephrotic syndrome, Macrovesicular hepatic ste...	OMIM:617303
Mitochondrial Complex I Deficiency, Nuclear Type 33	Aspiration pneumonia, Hyperammonemia, Neutropenia, Sparse hair, Hypospadias, Bronchiectasis	OMIM:618253
Isolated Thyroid-Stimulating Hormone Deficiency	Neonatal hyperbilirubinemia, Increased circulating prolactin concentration, Goiter, Abnormal circ...	ORPHA:90674
Bardet-Biedl Syndrome 20	Male hypogonadism, Elevated circulating hepatic transaminase concentration, Bilateral cryptorchid...	OMIM:619471
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Abnormal T cell count, Elevated circulating hepatic transaminase...	ORPHA:331206
Yellow Nail Syndrome	Nephropathy, Biliary tract neoplasm, Yellow nails, Recurrent respiratory infections, Neoplasm, Rh...	ORPHA:662
Hypermanganesemia With Dystonia 1	Elevated circulating hepatic transaminase concentration, Polycythemia, Decreased liver function, ...	OMIM:613280
Pneumocystosis	Increased circulating lactate dehydrogenase concentration, Neoplasm, Interstitial pneumonitis, Pl...	ORPHA:723
Desmoplastic Small Round Cell Tumor	Ascites, Anemia, Abnormal peritoneum morphology, Testicular neoplasm, Hepatomegaly, Sarcoma, Ovar...	ORPHA:83469
Mast Cell Sarcoma	Hepatomegaly, Mastocytosis, Sarcoma, Splenomegaly	ORPHA:66661
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ...	OMIM:618641
Ciliary Dyskinesia, Primary, 33	Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent bronchitis, Chronic rhinitis,...	OMIM:616726
Zygomycosis	Pustule, Hematological neoplasm, Acute infectious pneumonia, Neutropenia, Endocarditis, Pleural e...	ORPHA:73263
Peroxisome Biogenesis Disorder 3A (Zellweger)	Hepatomegaly, Increased circulating very long-chain fatty acid concentration, Polycystic kidney d...	OMIM:614859
Sarcoidosis, Susceptibility To, 2	Emphysema, Pleural effusion, Splenomegaly, Pneumothorax, Erythema nodosum, Hepatomegaly, Abnormal...	OMIM:612387
Igg4-Related Kidney Disease	Chronic kidney disease, Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Abnormal ...	ORPHA:449395
Selective Igm Deficiency	Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-positive T ce...	ORPHA:331235
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Increased circulating lactate dehydrogenase concentration, E...	OMIM:224120
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Sparse eyebrow, Sparse body hair, Cholestasis, Portal hypertension, Splenomegaly, Sparse eyelashe...	ORPHA:59303
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Alopecia universalis, Cholelithiasis, Female hypogonadism, Male hypogonadism,...	OMIM:240300
Prolidase Deficiency	Recurrent pneumonia, Eczematoid dermatitis, Elevated circulating aspartate aminotransferase conce...	OMIM:170100
Immunodeficiency 10	Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati...	OMIM:612783
Hyperlipoproteinemia, Type Id	Increased circulating chylomicron concentration, Splenomegaly, Hypertriglyceridemia, Hyperlipopro...	OMIM:615947
Congenital Disorder Of Glycosylation, Type Ih	Hypoalbuminemia, Decreased liver function, Cholestasis, Elevated circulating creatinine concentra...	OMIM:608104
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Allergic rhinitis, Exocrine pancreatic insufficiency, Splenomegaly, Skin rash, Anemia of inadequa...	OMIM:612714
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Pneumonia	ORPHA:85179
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoalbuminemia, Ascites, Anemia, Iron deficiency anemia, Thrombocytosis, Hepatomegaly, Recurrent...	OMIM:226300
Lipodystrophy, Familial Partial, Type 1	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia	OMIM:608600
Immunodeficiency 116	Recurrent respiratory infections, Bronchiectasis, Absence of CD8-positive T cells	OMIM:608957
Generalized Pseudohypoaldosteronism Type 1	Atopic dermatitis, Cholelithiasis, Osteomyelitis, Glucocortocoid-insensitive primary hyperaldoste...	ORPHA:171876
Chronic Mucocutaneous Candidiasis	Abnormal vagina morphology, Hepatitis, Skin rash, Hematuria, Recurrent respiratory infections, Ch...	ORPHA:1334
Shigellosis	Pneumonia, Hepatic failure, Acute kidney injury, Conjunctivitis, Microangiopathic hemolytic anemi...	ORPHA:810
Smith-Magenis Syndrome	Precocious puberty, Abnormality of the ureter, Hypercholesterolemia, Hypertriglyceridemia, Chroni...	ORPHA:819
Hypercholesterolemia, Familial, 3	Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration	OMIM:603776
Familial Mediterranean Fever	Neutrophilia, Erysipelas, Stage 5 chronic kidney disease, Pleural effusion, Splenomegaly, Leukocy...	OMIM:249100
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating acylcarnitine concentration, Hepatic failure, Red-brown urine, Decreased pla...	ORPHA:157
Congenital Disorder Of Glycosylation, Type Ib	Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Proximal tubulopathy, Renal cyst, Cirrhosis, ...	OMIM:602579
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatic fibrosis, Inflammation of the large intestine, Elevated circulating hepatic transaminase ...	OMIM:615895
Pyruvate Carboxylase Deficiency	Hepatomegaly, Increased serum pyruvate, Hyperalaninemia, Proximal renal tubular acidosis	OMIM:266150
Bloom Syndrome	Neoplasm of the skin, Neoplasm of the colon, Stomach cancer, Abscess, Sparse eyelashes, Abnormal ...	ORPHA:125
Carnitine Palmitoyl Transferase 1A Deficiency	Hepatic failure, Elevated circulating hepatic transaminase concentration, Renal tubular acidosis,...	ORPHA:156
Rigid Spine Syndrome	Pneumonia	ORPHA:97244
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate production, Anisocytos...	OMIM:615631
Isolated Biliary Atresia	Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans...	ORPHA:30391
Autoinflammatory Disease, Systemic, With Vasculitis	Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Abnormal circulating I...	OMIM:620376
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertension, Splen...	OMIM:617068
Fanconi-Bickel Syndrome	Nephropathy, Generalized aminoaciduria, Hepatic failure, Nephrocalcinosis, Glycosuria, Elevated c...	ORPHA:2088
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteomyelitis, Splenomegaly, Skin rash, Abscess, Pustule, Elevated circulating C-reactive protein...	OMIM:612852
Immunodeficiency 54	Reduced natural killer cell count, Recurrent respiratory infections, Splenomegaly, Adrenocorticot...	OMIM:609981
Indolent Systemic Mastocytosis	Mastocytosis, Elevated total serum tryptase, Increased proportion of CD25+ mast cells, Skin rash,...	ORPHA:98848
Lipe-Related Familial Partial Lipodystrophy	Abnormal labia majora morphology, Hepatic steatosis, Elevated circulating creatine kinase concent...	ORPHA:435660
Myasthenia Gravis	Rheumatoid arthritis, Hepatitis, Glycosuria, Myositis, Hashimoto thyroiditis, Pure red cell aplas...	ORPHA:589
Dengue Fever	Ascites, Leukopenia, Skin rash, Thrombocytopenia, Hepatomegaly, Hypoproteinemia	ORPHA:99828
Propionic Acidemia	Hyperglycinuria, Eczematoid dermatitis, Increased level of hippuric acid in urine, Pancytopenia, ...	OMIM:606054
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto...	OMIM:185000
Rift Valley Fever	Elevated circulating hepatic transaminase concentration, Hepatitis, Skin rash, Infectious encepha...	ORPHA:319251
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Pneumonia, Reduced natural killer cell count, Decreased circulating IgA level, Chronic bronchitis...	OMIM:242860
Cinca Syndrome	Abnormality of neutrophils, Leukocytosis, Splenomegaly, Inflammatory abnormality of the eye, Anem...	ORPHA:1451
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hypoalbuminemia, Hepatic failure, Elevated circulating hepatic transaminase concentration, Decrea...	ORPHA:367
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Ascites, Elevated circulating aspartate aminotransferase concentration, M...	OMIM:257200
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Hepatosplenomegaly, Thrombocytosis, Erythroderma, Neutrophi...	ORPHA:3260
Ciliary Dyskinesia, Primary, 25	Recurrent pneumonia, Polysplenia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis...	OMIM:615482
Combined Oxidative Phosphorylation Deficiency 53	Septic arthritis, Osteomyelitis, Elevated circulating C-reactive protein concentration, Arthritis...	OMIM:619423
Glycogen Storage Disease Ib	Focal segmental glomerulosclerosis, Inflammation of the large intestine, Elevated circulating hep...	OMIM:232220
Autoimmune Lymphoproliferative Syndrome	Splenomegaly, Autoimmune hemolytic anemia, Elevated proportion of CD4-negative, CD8-negative, alp...	OMIM:601859
Slc35A1-Cdg	Pneumonia, Giant platelets, Pulmonary hemorrhage, Abnormal platelet granules, Neutropenia, Thromb...	ORPHA:238459
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic aciduria, Leukopenia, Stage 5 chronic kidney disease, Hyperglycinemia, Hyperammonem...	OMIM:251000
Ataxia-Telangiectasia	Abnormal hair morphology, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Recur...	OMIM:208900
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Recurrent upper respiratory tract infections, Interstitial pneumonitis, Splenomegaly, Anemia, Hep...	OMIM:620296
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypopituitarism, Left ventricular hypertrophy, Hypercholesterolemia, Leukocytosis	ORPHA:90065
Mounier-Kühn Syndrome	Pneumonia, Recurrent respiratory infections, Bronchitis, Recurrent bronchopulmonary infections	ORPHA:3347
Hypercholesterolemia, Familial, 2	Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:144010
9Q31.1Q31.3 Microdeletion Syndrome	Highly arched eyebrow, Renovascular hypertension, Hypercholesterolemia, Thick hair	ORPHA:401923
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta...	OMIM:619849
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Leukocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Abnormal neutrophil c...	ORPHA:3226
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating acylcarnitine concentration, Hepatic failure, Red-brown urine, Dicarboxylic ...	ORPHA:228308
Autoimmune Lymphoproliferative Syndrome, Type Iia	Nephritis, Increased circulating IgG level, Malar rash, Splenomegaly, Autoimmune hemolytic anemia...	OMIM:603909
Glycogen Storage Disease Ic	Focal segmental glomerulosclerosis, Inflammation of the large intestine, Recurrent upper respirat...	OMIM:232240
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Decreased circulating carnitine concentration, Organic aciduria, Abnormal circulating carnitine c...	ORPHA:431361
Primary Myelofibrosis	Increased circulating lactate dehydrogenase concentration, Extramedullary hematopoiesis, Hepatosp...	ORPHA:824
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Pneumonia, Nodular regenerative hyperplasia of liver, Abnormality of the hepatic vasculature, Nor...	ORPHA:247691
Dyskeratosis Congenita, Autosomal Dominant 1	Sparse hair, Alopecia, Aplastic anemia, Increased mean corpuscular volume, Premature graying of h...	OMIM:127550
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Male hypogonadism, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Cr...	OMIM:615381
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Pancreatitis, Hepatic steatosis, Polycystic ovaries	ORPHA:79084
Pgm3-Cdg	Allergic rhinitis, Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Esophagi...	ORPHA:443811
Pfapa Syndrome	Splenomegaly, Infectious encephalitis, Arthritis, Recurrent pharyngitis, Hepatomegaly	ORPHA:42642
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatic failure, Ketonuria, Increased hepatic echogenicity, Hepatic steatosis, Low plasma citrull...	OMIM:261680
Pulmonary Alveolar Proteinosis, Acquired	Pneumonia, Intraalveolar phospholipid accumulation, Brain abscess, Lung abscess, Recurrent respir...	OMIM:610910
Alagille Syndrome 1	Focal segmental glomerulosclerosis, Hepatic failure, Elevated circulating hepatic transaminase co...	OMIM:118450
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Cholestasis, Stage ...	OMIM:616217
Hereditary Amyloidosis With Primary Renal Involvement	Nephropathy, Nephrotic syndrome, Abnormal urinary electrolyte concentration, Decreased liver func...	ORPHA:85450
Carnitine-Acylcarnitine Translocase Deficiency	Reduced tissue carnitine-acylcarnitine translocase activity, Elevated circulating hepatic transam...	OMIM:212138
Wolman Disease	Hepatic failure, Ascites, Splenomegaly, Anemia, Hepatomegaly, Bone-marrow foam cells, Steatorrhea	ORPHA:75233
Ciliary Dyskinesia, Primary, 21	Recurrent pneumonia, Atelectasis, Recurrent otitis media, Chronic sinusitis, Bronchiectasis	OMIM:615294
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration...	ORPHA:822
Acute Interstitial Pneumonia	Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Elevated ...	ORPHA:79126
Cirrhotic Cardiomyopathy	Abnormal circulating B-type natriuretic peptide concentration, Ascites, Cardiomegaly, Pulmonary e...	ORPHA:57777
Neutral Lipid Storage Disease With Ichthyosis	Alopecia, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Abnorm...	ORPHA:98907
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hyperglycinuria, Elevated circulating hepatic transaminase concentration, Decreased circulating c...	OMIM:201450
Gamma-Heavy Chain Disease	Rheumatoid arthritis, Abnormal lymphocyte morphology, Skin rash, Splenomegaly, Autoimmune hemolyt...	ORPHA:100026
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Erythema nodosum, Elevated...	OMIM:615688
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Decreased HDL cholesterol concentration	ORPHA:79292
Cronkhite-Canada Syndrome	Gastrointestinal carcinoma, Alopecia, Dystrophic toenail, Sparse body hair, Stomach cancer, Intes...	ORPHA:2930
Ciliary Dyskinesia, Primary, 23	Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic rhi...	OMIM:615451
Combined Immunodeficiency Due To Crac Channel Dysfunction	Pneumonia, Neoplasm, Splenomegaly, Thrombocytopenia, Hepatomegaly, Hemolytic anemia, Chronic otit...	ORPHA:169090
Idiopathic Bronchiectasis	Emphysema, Respiratory tract infection, Acute infectious pneumonia, Recurrent lower respiratory t...	ORPHA:60033
Symptomatic Form Of Hfe-Related Hemochromatosis	Increased circulating ferritin concentration, Portal hypertension, Splenomegaly, Cardiomegaly, Hy...	ORPHA:465508
Immunodeficiency 98 With Autoinflammation, X-Linked	Decreased circulating IgG level, Hemophagocytosis, Agranulocytosis, Recurrent otitis media, Recur...	OMIM:301078
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Elevated circulating hepatic transaminase concentration, External genital hypoplasia, Elevated ci...	ORPHA:329178
Methylmalonic Aciduria, Cblb Type	Ketonuria, Decreased methylmalonyl-CoA mutase activity, Methylmalonic aciduria, Elevated circulat...	OMIM:251110
Neonatal Lupus Erythematosus	Hepatic failure, Elevated circulating hepatic transaminase concentration, Aplastic anemia, Abnorm...	ORPHA:398124
Hyperzincemia With Functional Zinc Depletion	Hepatomegaly, Increased serum zinc, Skin rash	OMIM:601979
Combined Immunodeficiency-Enteropathy Spectrum	Peritoneal abscess, Congenital pulmonary airway malformation, Hepatitis, Psoriasiform dermatitis,...	ORPHA:436252
Mandibuloacral Dysplasia	Alopecia, Increased circulating free fatty acid level, Hypercholesterolemia, Hypertriglyceridemia...	ORPHA:2457
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatic failure, Abnormality of the uterus, Hypertrichosis, Ascites, Pancreatic lymphangiectasis,...	ORPHA:1655
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Bronchiolitis, Decreased circulating IgA level, Interstitial pneumonitis, Enterocolitis, Recurren...	OMIM:614878
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Recurrent upper respiratory tract infections, Recurrent pneumonia, Alopecia, Recurrent otitis med...	ORPHA:293978
Ciliary Dyskinesia, Primary, 27	Recurrent respiratory infections, Recurrent otitis media, Chronic sinusitis, Recurrent sinusitis,...	OMIM:615504
Bronchiolitis Obliterans	Pneumonia, Bronchiolitis obliterans, Bronchiectasis, Respiratory tract infection	ORPHA:1303
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Hyperammonemia, 3-Methylglutaconic aciduria, Cryptorchidism, Infectious encephalitis, Hepatomegal...	ORPHA:1194
Glycogen Storage Disease Ii	Reduced muscle alpha-1,4-glucosidase activity, Urinary incontinence, Increased circulating lactat...	OMIM:232300
Ciliary Dyskinesia, Primary, 42	Pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis	OMIM:618695
Acquired Generalized Lipodystrophy	Lymphoma, Abnormal circulating lipid concentration, Hepatic steatosis, Polycystic ovaries, Genera...	ORPHA:79086
Peroxisome Biogenesis Disorder 13A (Zellweger)	Intrahepatic cholestasis, Increased circulating very long-chain fatty acid concentration, Dicarbo...	OMIM:614887
Cidec-Related Familial Partial Lipodystrophy

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