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Gene: Crlf2 MGI:1889506

Gene Summary

Name:

cytokine receptor-like factor 2

Synonyms:

Tslpr, Tpte2, Ly114

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
enlarged kidney	Crlf2^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal lymph node morphology	Crlf2^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal skin morphology	Crlf2^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal brain morphology	Crlf2^em1(IMPC)Mbp	HOM	Late adult	0.00
increased mean corpuscular volume	Crlf2^em1(IMPC)Mbp	HOM	Late adult	9.31×10^-05
increased freezing behavior	Crlf2^em1(IMPC)Mbp	HOM	Early adult	6.35×10^-07
enlarged lymph nodes	Crlf2^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal uterus morphology	Crlf2^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged spleen	Crlf2^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal heart morphology	Crlf2^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal liver morphology	Crlf2^em1(IMPC)Mbp	HOM	Late adult	0.00
increased circulating bilirubin level	Crlf2^em1(IMPC)Mbp	HOM	Late adult	7.10×10^-10
abnormal kidney morphology	Crlf2^em1(IMPC)Mbp	HOM	Late adult	0.00
small kidney	Crlf2^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal spleen morphology	Crlf2^em1(IMPC)Mbp	HOM	Late adult	0.00
small heart	Crlf2^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged heart	Crlf2^em1(IMPC)Mbp	HOM	Late adult	0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

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X-ray

XRay Images Whole Body Dorso Ventral

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X-ray

XRay Images Whole Body Lateral Orientation

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XRay Images Whole Body Dorso Ventral

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Human diseases caused by Crlf2 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 Crlf2 (0 diseases)
Human diseases predicted to be associated with Crlf2 (1375 diseases)

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

The table below shows human diseases predicted to be associated to Crlf2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Major Depressive Disorder	Depression	OMIM:608516
Major Affective Disorder 1	Depression, Mania	OMIM:125480
Inflammatory Bowel Disease 29	Crohn's disease, Ulcerative colitis	OMIM:618077
Inflammatory Bowel Disease 3	Ulcerative colitis	OMIM:604519
Inflammatory Bowel Disease 21	Ulcerative colitis	OMIM:612354
Inflammatory Bowel Disease 13	Inflammation of the large intestine	OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19	Inflammation of the large intestine	OMIM:612278
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Monocyte Chemotactic Disorder	Chronic mucocutaneous candidiasis, Cutaneous anergy	OMIM:252250
Gamma-A-Globulin, Defect In Assembly Of	Recurrent respiratory infections, Decreased circulating IgA level	OMIM:137050
Okt4 Epitope Deficiency	Abnormal T cell morphology	OMIM:613949
Immunodeficiency, Common Variable, 4	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:613494
Masp2 Deficiency	Recurrent pneumonia, Ulcerative colitis	OMIM:613791
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Immunodeficiency With Hyper-Igm, Type 2	Impaired Ig class switch recombination, Complete or near-complete absence of specific antibody re...	OMIM:605258
Obsessive-Compulsive Disorder	Depression, Skin-picking, Collectionism, Compulsive behaviors	OMIM:164230
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Combined Cellular And Humoral Immune Defects With Granulomas	B lymphocytopenia, T lymphocytopenia	OMIM:233650
Immunodeficiency 51	Chronic oral candidiasis, Recurrent otitis media, Recurrent bronchitis, Chronic mucocutaneous can...	OMIM:613953
Immunodeficiency 61	Recurrent otitis media, Decreased circulating IgG4 level, Recurrent sinusitis, Decreased circulat...	OMIM:300310
Diarrhea 8, Secretory Sodium, Congenital	Abdominal distention, Elevated fecal sodium, Secretory diarrhea, Inflammation of the large intestine	OMIM:616868
Inflammatory Bowel Disease 28, Autosomal Recessive	Perianal abscess, Pyoderma, Crohn's disease, Folliculitis, Enterocolitis, Hematochezia, Colitis	OMIM:613148
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Decreased circulating IgG level, Increased circulating Ig...	OMIM:608106
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Monocytosis, Neutropenia	OMIM:613107
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Hepatomegaly, Increased serum bile acid concentration, Hyperbilirubinemia, Cholestasis,...	OMIM:620010
Hepatorenocardiac Degenerative Fibrosis	Cirrhosis, Jaundice, Enlarged kidney, Elevated circulating hepatic transaminase concentration, Tu...	OMIM:619902
Immunodeficiency 24	Defective T cell proliferation, Partial absence of specific antibody response to tetanus vaccine,...	OMIM:615897
Immunodeficiency, Common Variable, 5	Abnormal T cell count, Abnormal B cell count	OMIM:613495
Caspase 8 Deficiency	Reduced CD95-induced lymphocyte apoptosis, Complete or near-complete absence of specific antibody...	OMIM:607271
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Recurrent otitis media, Decreased circulating total IgM, Increased circulating interleukin 6 conc...	OMIM:618944
Agammaglobulinemia 4, Autosomal Recessive	Recurrent otitis media, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulati...	OMIM:613502
Cutaneous Photosensitivity And Colitis, Lethal	Diarrhea, Colitis	OMIM:219095
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Inflammatory Bowel Disease (Crohn Disease) 30	Protein-losing enteropathy, Gastritis, Pancolitis, Abdominal pain, Chronic diarrhea, Abnormal int...	OMIM:619079
Hirschsprung Disease, Susceptibility To, 1	Abdominal distention, Aganglionic megacolon, Vomiting, Enterocolitis, Constipation, Abnormal ente...	OMIM:142623
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia	OMIM:242870
Inflammatory Bowel Disease 25, Autosomal Recessive	Perianal abscess, Rectovaginal fistula, Pancolitis, Folliculitis, Enterocolitis, Enterocutaneous ...	OMIM:612567
Immunoglobulin A Deficiency 2	Decreased circulating IgA level, Recurrent sinopulmonary infections	OMIM:609529
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Bloody diarrhea, Ulcerative colitis	OMIM:619398
Agammaglobulinemia 2, Autosomal Recessive	Recurrent otitis media, Agammaglobulinemia, Recurrent pneumonia, Decreased circulating total IgM,...	OMIM:613500
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Absence of lymph node germinal center, Endocardial fibrosis	OMIM:235550
Agammaglobulinemia 10, Autosomal Dominant	Agammaglobulinemia, Decreased circulating IgG level, Recurrent sinusitis, Decreased circulating t...	OMIM:619707
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve...	OMIM:606843
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Pneumonia, Increased circulating antibody level, Glomerulonephritis	OMIM:247800
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Hyperbilirubinemia, Anemia of inadequate production, Reticulocytosis, Spl...	OMIM:237800
Immunodeficiency 8 With Lymphoproliferation	Chronic oral candidiasis, Recurrent otitis media, Recurrent lower respiratory tract infections, C...	OMIM:615401
Immunodeficiency, Common Variable, 3	Recurrent otitis media, Chronic decreased circulating total IgG, Reduced isohemagglutinin level, ...	OMIM:613493
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary...	OMIM:615285
Immunodeficiency, Common Variable, 7	Decreased circulating total IgG, Chronic partially decreased circulating IgG1, Decreased specific...	OMIM:614699
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Immunodeficiency 50	Recurrent respiratory infections, Decreased circulating antibody level, Eczematoid dermatitis	OMIM:300988
Agammaglobulinemia 6, Autosomal Recessive	Recurrent otitis media, Recurrent bronchitis, Decreased circulating IgG level, Recurrent pneumoni...	OMIM:612692
Immunoglobulin A Deficiency 1	Recurrent respiratory infections, Decreased circulating IgA level	OMIM:137100
Polycystic Kidney Disease 5	Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced...	OMIM:617610
Immunodeficiency 62	Recurrent lower respiratory tract infections, Complete or near-complete absence of specific antib...	OMIM:618459
Inflammatory Bowel Disease (Crohn Disease) 1	Intestinal obstruction, Recurrent aphthous stomatitis, Diarrhea, Crohn's disease, Abdominal pain,...	OMIM:266600
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Portal fibrosis, Hepatomegaly, Increased serum bile acid concentration, Elevated circul...	OMIM:619868
Severe Combined Immunodeficiency, X-Linked	Chronic oral candidiasis, Decreased circulating IgE, Skin rash, Decreased circulating IgG level, ...	OMIM:300400
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased...	ORPHA:3202
Immunodeficiency, Common Variable, 14	Decreased specific antibody response to vaccination, Decreased circulating IgG level, Recurrent s...	OMIM:617765
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Ficolin 3 Deficiency	Necrotizing enterocolitis	OMIM:613860
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Increased circulating IgE level, Atopic dermatitis, Colonic eosinophilia, Bronchiectas...	OMIM:617638
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Recurrent bronchopulmonary infections	OMIM:610798
Immunodeficiency 11A	Recurrent respiratory infections, Decreased circulating antibody level, Agammaglobulinemia, Reduc...	OMIM:615206
Immunodeficiency 19	T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology	OMIM:615617
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Immunodeficiency 18	Defective T cell proliferation, Recurrent otitis media, Decreased circulating total IgA, Abnormal...	OMIM:615615
Immunodeficiency 84	Perianal abscess, B lymphocytopenia, Splenomegaly	OMIM:619437
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Bronchiectasis, Decreased circulating total IgM, Recurrent lower respiratory tract infections, Re...	OMIM:615139
Immunoerythromyeloid Hypoplasia	Decreased circulating IgG level	OMIM:242880
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Elevated circulating hepatic tra...	OMIM:616278
Candidiasis, Familial, 1	Chronic mucocutaneous candidiasis, Cutaneous anergy	OMIM:114580
5-Oxoprolinase Deficiency	Diarrhea, Abdominal pain, Enterocolitis, Vomiting	OMIM:260005
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio...	OMIM:616860
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Decreased circulating antibody level	OMIM:616911
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia	OMIM:183350
Anemia, Congenital Dyserythropoietic, Type Iv	Anemia of inadequate production, Reticulocytosis, Unconjugated hyperbilirubinemia, Circulating nu...	OMIM:613673
Red Cell Phospholipid Defect With Hemolysis	Hyperbilirubinemia, Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Immunodeficiency, Common Variable, 1	Recurrent otitis media, Recurrent bronchitis, Impaired T cell function, Bronchiectasis, Decreased...	OMIM:607594
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Decreased helper T cell proportion, T lymphocytopenia	OMIM:601705
Nephronophthisis 16	Situs inversus totalis, Enlarged kidney, Nephronophthisis, Periportal fibrosis, Polycystic kidney...	OMIM:615382
Immunodeficiency 15A	Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr...	OMIM:618204
Combined Immunodeficiency, X-Linked	Recurrent bronchitis, Sinusitis, Decreased circulating IgG level, Otitis media, Pneumonia	OMIM:312863
Immunodeficiency 86	Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst	OMIM:619549
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Abnormally low T cell receptor excision circle level, T lymphocytopenia	OMIM:618806
Inflammatory Bowel Disease 11	Diarrhea, Abdominal pain, Hematochezia, Inflammation of the large intestine	OMIM:191390
Immunodeficiency 95	Increased circulating IgG3 level, Recurrent viral upper respiratory tract infections, Recurrent v...	OMIM:619773
Immunodeficiency, Common Variable, 2	Recurrent otitis media, Partial absence of specific antibody response to unconjugated pneumococcu...	OMIM:240500
Agammaglobulinemia 5, Autosomal Dominant	Agammaglobulinemia	OMIM:613506
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Decreased circulating IgG level, Recurrent respiratory infections, Decreased circulating total IgM	OMIM:618987
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased circulating total IgM, Decreased circulating IgA level, Decreased specific antibody res...	OMIM:616452
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased specific antibody response to polysaccharide vaccine, Decreased specific anti-polysacch...	ORPHA:70593
Immunoglobulin Kappa Light Chain Deficiency	Recurrent respiratory infections, Absent circulating immunoglobulin kappa chain	OMIM:614102
Visceral Myopathy 2	Intestinal obstruction, Rectal prolapse, Gastroparesis, Gastroesophageal reflux, Intestinal pseud...	OMIM:619350
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, P...	OMIM:185000
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased specific pneumococcal antibody level, Increased circulating IgM level, Recurrent sinopu...	OMIM:615513
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hypertriglyceridemia, Increased circulating ferritin concentration, Anemia, Acute myeloid leukemi...	ORPHA:158057
Ciliary Dyskinesia, Primary, 29	Bronchiectasis, Recurrent respiratory infections, Decreased circulating antibody level, Atelectasis	OMIM:615872
Ige Responsiveness, Atopic	Increased circulating IgE level, Allergic rhinitis, Eczematoid dermatitis	OMIM:147050
Agammaglobulinemia 8A, Autosomal Dominant	B lymphocytopenia	OMIM:616941
Cholestasis, Progressive Familial Intrahepatic, 11	Hepatomegaly, Increased serum bile acid concentration, Elevated circulating alanine aminotransfer...	OMIM:619874
Immunodeficiency, Common Variable, 6	Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Abnormal T cell count, Mesangial Immu...	OMIM:613496
Histiocytosis, Familial Lipochrome	Increased circulating antibody level	OMIM:235900
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Abnormality of T cell physiology	OMIM:308220
Pandas	Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E...	ORPHA:66624
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyper...	OMIM:214900
Infantile Sialic Acid Storage Disease	Hepatomegaly, Vacuolated lymphocytes, Ascites, Nephrotic syndrome, Splenomegaly, Conjugated hyper...	OMIM:269920
Immunodeficiency 109 With Lymphoproliferation	Recurrent lower respiratory tract infections, Complete or near-complete absence of specific antib...	OMIM:620282
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 23 concentration, Pleural thickening, Reduced circulating interle...	OMIM:619632
Harderoporphyria	Hepatomegaly, Increased urine harderoporphyrin level, Increased urinary porphobilinogen, Red urin...	OMIM:618892
Neutropenia, Chronic Familial	Increased circulating antibody level, Periodontitis	OMIM:162700
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Decreased liver function, Anemia, Hematuria, Increased mean corpuscular volume, Ventricular septa...	OMIM:617021
Reticuloendotheliosis, X-Linked	Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly	OMIM:312500
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Azoospermia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated he...	OMIM:615234
Renal-Hepatic-Pancreatic Dysplasia 2	Situs inversus totalis, Enlarged kidney, Hepatomegaly, Truncus arteriosus, Cholestasis, Hypertrop...	OMIM:615415
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Anemia, Hypochromia, Sideroblastic anemia, Decreased mean corpuscular volume, Elevated transferri...	OMIM:205950
Rotor Syndrome	Jaundice, Hyperbilirubinemia, Porphyrinuria, Intermittent jaundice, Conjugated hyperbilirubinemia...	ORPHA:3111
Renal-Hepatic-Pancreatic Dysplasia 1	Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Aortic valve stenosis, ...	OMIM:208540
Immunodeficiency 112	Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell...	OMIM:620449
Malaria	Acute kidney injury, Anemia, Elevated circulating C-reactive protein concentration, Hyperbilirubi...	ORPHA:673
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Hyperbilirubinemia, Nonspherocy...	OMIM:235700
Agammaglobulinemia 7, Autosomal Recessive	Erythema nodosum, Recurrent respiratory infections, Agammaglobulinemia, Panhypogammaglobulinemia	OMIM:615214
Immunodeficiency 14B, Autosomal Recessive	Inflammation of the large intestine, Decreased circulating IgG level, Recurrent sinusitis, Recurr...	OMIM:619281
Immunodeficiency 35	Recurrent respiratory infections, Increased circulating IgE level	OMIM:611521
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Jaundice, Anemia, Elevated circulating hepatic transaminase...	ORPHA:64743
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr...	OMIM:619924
Crigler-Najjar Syndrome Type 1	Unconjugated hyperbilirubinemia, Biliary tract abnormality, Prolonged neonatal jaundice, Neonatal...	ORPHA:79234
Ethanolaminosis	Cardiomegaly	OMIM:227150
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Cystic Echinococcosis	Cholestatic liver disease, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conc...	ORPHA:400
Aa Amyloidosis	Acute kidney injury, Enlarged kidney, Hepatomegaly, Abnormality of the kidney, Cholestasis, Nephr...	ORPHA:85445
Isolated Polycystic Liver Disease	Hepatomegaly, Polycystic liver disease, Increased total bilirubin, Multiple renal cysts, Abnormal...	ORPHA:2924
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating total IgM, Bronchiolitis, Enterocolitis, Recurrent sinopulmonary infections...	OMIM:614878
Immunodeficiency 70	Decreased circulating total IgG, Decreased circulating antibody level, Furuncle, Recurrent sinusi...	OMIM:618969
Immunodeficiency 44	Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level	OMIM:616636
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Panhypogammaglobulinemia, Arthritis, Purulent rhinitis, Otitis media, Conjunctivitis, Pneumonia	OMIM:601457
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Immunodeficiency 76	B lymphocytopenia, Lymphopenia, Splenomegaly, T lymphocytopenia	OMIM:619164
Gastroesophageal Reflux	Esophageal neoplasm, Barrett esophagus, Esophagitis, Gastroesophageal reflux	OMIM:109350
Sickle Cell Anemia	Jaundice, Chronic hemolytic anemia, Iron deficiency anemia, Cholelithiasis, Increased mean corpus...	ORPHA:232
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Recurrent otitis media, Increased circulating interleukin 6 concentration, Recurrent lower respir...	OMIM:620430
Whim Syndrome 1	Bronchiectasis, Decreased circulating IgG level, Decreased circulating antibody level, Recurrent ...	OMIM:193670
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level, Late onset atopic dermatitis	OMIM:221700
Immunodeficiency 48	Pneumonia, Recurrent respiratory infections, Panhypogammaglobulinemia, Eczematoid dermatitis	OMIM:269840
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Immunodeficiency, Common Variable, 12, With Autoimmunity	Decreased circulating antibody level, Recurrent pneumonia, Recurrent sinusitis, Recurrent sinopul...	OMIM:616576
Immunodeficiency 13	B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lympho...	OMIM:615518
Cernunnos-Xlf Deficiency	Anemia, B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Lymphopenia	ORPHA:169079
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgE, Crohn's disease, Decreased circulating IgG level, Recurrent sinopulmon...	OMIM:618394
Intrinsic Factor Deficiency	Reduced haptoglobin level, Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic...	OMIM:261000
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy	OMIM:616126
Persistent Polyclonal B-Cell Lymphocytosis	Decreased circulating total IgM	OMIM:606445
Glutathione Peroxidase Deficiency	Compensated hemolytic anemia, Neonatal hyperbilirubinemia, Heinz bodies	OMIM:614164
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Colitis	ORPHA:88643
Immunodeficiency 37	Infectious encephalitis, Colitis	OMIM:616098
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Minimal change glomerulonephritis, Colitis	OMIM:617006
Immunodeficiency 102	Decreased circulating total IgM, Increased circulating interleukin 6 concentration, Recurrent low...	OMIM:301082
Immunodeficiency 52	Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B cell count, Lymph...	OMIM:617514
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat...	OMIM:266200
Hepatic Veno-Occlusive Disease	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Ascites, Increas...	ORPHA:890
Diamond-Blackfan Anemia 6	Macrocytic anemia, Increased mean corpuscular volume, Ventricular hypertrophy, Persistence of hem...	OMIM:612561
Lymphoproliferative Syndrome, X-Linked, 2	Folliculitis, Inflammation of the large intestine, Acne, Erythema nodosum, Recurrent skin infecti...	OMIM:300635
Agammaglobulinemia 3, Autosomal Recessive	Recurrent otitis media, Absent isohemagglutinin level, Recurrent lower respiratory tract infectio...	OMIM:613501
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Hyperbilirubinemia, Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione reductase...	OMIM:618660
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Hyperbilirubinemia, Macrocytic dyserythropoietic anemia, Anemia of inadequate produ...	OMIM:224120
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Immunodeficiency 96	Defective T cell proliferation, Recurrent otitis media, Recurrent lower respiratory tract infecti...	OMIM:619774
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Recurrent otitis media, Recurrent lower respiratory tract infections, Increased circulating IgG l...	OMIM:619220
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating antibody level, Decreased circulating IgG level, Recurrent upper respirator...	OMIM:614069
Biliary Atresia, Extrahepatic	Cirrhosis, Jaundice, Hepatomegaly, Portal fibrosis, Elevated circulating hepatic transaminase con...	OMIM:210500
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Epidermolysis Bullosa Acquisita	Abdominal pain, Inflammation of the large intestine	ORPHA:46487
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r...	OMIM:620367
Congenital Dyserythropoietic Anemia Type Iii	Increased total iron binding capacity, Anemia, Elevated circulating hepatic transaminase concentr...	ORPHA:98870
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Polycystic kidne...	OMIM:263200
Senior-Boichis Syndrome	Elevated circulating hepatic transaminase concentration, Tubular luminal dilatation, Cholestasis,...	ORPHA:84081
Hemochromatosis, Type 2B	Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Cardiom...	OMIM:613313
Methylcobalamin Deficiency Type Cble	Glomerulopathy, Hemolytic-uremic syndrome, Macrocytic anemia, Pancytopenia, Increased mean corpus...	ORPHA:2169
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Ureteral duplication, Elevated circulating hepatic transaminase concentration, H...	OMIM:608836
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Increased total bilirubin, Ascites, Renal cyst, Polycystic liver disease	OMIM:174050
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Recurrent otitis media, Increased circulating IgG level, Herpes simplex encephalitis, Increased c...	OMIM:618982
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope...	ORPHA:444463
Radiation Proctitis	Intestinal obstruction, Rectal fistula, Abnormal gastrointestinal vascular morphology, Arteritis,...	ORPHA:70475
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Recurrent lower respiratory tract infections, Crohn's disease, Arthritis, Decreased circulating a...	OMIM:616100
Tyrosinemia, Type I	Enlarged kidney, Elevated circulating hepatic transaminase concentration, Hypertyrosinemia, Ascit...	OMIM:276700
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Pulmonary pneumatocele, Decreased circulating total IgM, Chronic mucocutaneous candidiasis, Incre...	OMIM:619752
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Transcobalamin Deficiency	Decreased circulating IgG level, Decreased circulating antibody level, Decreased circulating IgA ...	ORPHA:859
Dubin-Johnson Syndrome	Biliary tract abnormality, Jaundice, Conjugated hyperbilirubinemia	OMIM:237500
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemol...	OMIM:182900
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Isothenuria, Distal renal tubular acidosis, Hypokalemia, Reticulocytosis, Nephrocalcinosis, Hepat...	OMIM:611590
Activated Pi3K-Delta Syndrome	Recurrent otitis media, Arthritis, Decreased circulating antibody level, Bronchiectasis, Increase...	ORPHA:397596
Young Syndrome	Bronchiectasis, Recurrent bronchitis, Recurrent sinopulmonary infections, Congenital pulmonary ai...	OMIM:279000
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Thromboc...	OMIM:603552
Beta-Thalassemia Intermedia	Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Abnormality of iron homeostasis, Cho...	ORPHA:231222
Pulmonary Nodular Lymphoid Hyperplasia	Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:60026
Crigler-Najjar Syndrome Type 2	Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia	ORPHA:79235
Spherocytosis, Type 2	Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemol...	OMIM:616649
Immunodeficiency 57 With Autoinflammation	Perianal abscess, Gastritis, Skin rash, Decreased circulating antibody level, Partial absence of ...	OMIM:618108
Neutropenia, Severe Congenital, 9, Autosomal Dominant	3-Methylglutaconic aciduria, Splenomegaly	OMIM:619813
Spherocytosis, Type 4	Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells, Abnormal proport...	OMIM:212050
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating IgG level, Decreased circulating total IgM, Decreased circulating IgA level...	OMIM:611926
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Recurrent bronchit...	OMIM:300853
Nephronophthisis 2	Hyperkalemia, Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Situs inve...	OMIM:602088
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent...	ORPHA:247598
Immunodeficiency 21	Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu...	OMIM:614172
Hereditary Spherocytosis	Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp...	ORPHA:822
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Jaundice, Pancytopenia, Increased mean corpuscular volume, Megaloblastic anemia, Th...	OMIM:613839
Mucopolysaccharidosis-Plus Syndrome	Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Anemia, Focal segmental glomerul...	OMIM:617303
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Hyperbilirubinemia, ...	OMIM:613812
Congenital Bile Acid Synthesis Defect Type 2	Jaundice, Giant cell hepatitis, Hepatomegaly, Elevated circulating hepatic transaminase concentra...	ORPHA:79303
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol...	OMIM:300908
Interstitial Lung Disease 2	Increased circulating antibody level, Elevated bronchoalveolar lavage fluid neutrophil proportion...	OMIM:178500
Immunodeficiency 104	Splenomegaly, Hepatomegaly, Lymphadenopathy, T lymphocytopenia	OMIM:608971
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:300946
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Crigler-Najjar Syndrome, Type Ii	Jaundice, Elevated circulating hepatic transaminase concentration, Unconjugated hyperbilirubinemia	OMIM:606785
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Increased circulating antibody level, Erythroderma, Decreased circulati...	ORPHA:169160
Combined Immunodeficiency Due To Dock8 Deficiency	Chronic otitis media, Increased circulating IgE level, Recurrent bacterial skin infections, Atopi...	ORPHA:217390
Bile Acid Synthesis Defect, Congenital, 2	Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepa...	OMIM:235555
Congenital Toxoplasmosis	Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Elevated circulating hepatic transaminase concen...	ORPHA:858
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno...	ORPHA:3203
Kaposiform Lymphangiomatosis	Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma...	ORPHA:464329
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Bence Jones Proteinuria, Splenomegaly, Abnormal B cell cou...	ORPHA:100024
Meckel Syndrome, Type 8	Enlarged kidney, Polycystic kidney dysplasia, Pericardial effusion, Hyperechogenic kidneys, Ambig...	OMIM:613885
Diarrhea 6	Crohn's disease, Abdominal pain, Chronic diarrhea, Meteorism	OMIM:614616
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Stage 5 chronic kidney disease, Hepatomegaly, Mediastinal lymphadeno...	OMIM:615559
Hypercholanemia, Familial, 2	Prolonged neonatal jaundice, Increased serum bile acid concentration, Unconjugated hyperbilirubin...	OMIM:619256
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Cholestatic liver disease, Giant cell hepatitis, Jaundice, Elevated circulating hepatic transamin...	OMIM:208085
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
Bronchiectasis With Or Without Elevated Sweat Chloride 3	Bronchiectasis, Chronic bronchitis	OMIM:613071
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgE, Partial absence of specific antibody response to tetanus vaccine, Decr...	OMIM:619824
Congenital Bile Acid Synthesis Defect Type 3	Cirrhosis, Jaundice, Hyperbilirubinemia, Cholestasis, Elevated circulating alanine aminotransfera...	ORPHA:79302
Immunodeficiency 15B	Chronic oral candidiasis, Agammaglobulinemia, Decreased circulating antibody level, Decreased lym...	OMIM:615592
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Cholestatic liver disease, Jaundice, Giant cell hepatitis, Hepatomegaly, Elevated circulating hep...	OMIM:613404
Meacham Syndrome	Blind vagina, Enlarged kidney, Transposition of the great arteries, Dextrocardia, Cardiac total a...	OMIM:608978
Immunodeficiency With Hyper-Igm, Type 4	Bronchiectasis, Impaired Ig class switch recombination, Osteomyelitis, Recurrent upper respirator...	OMIM:608184
Granulomatous Disease, Chronic, Autosomal Recessive, 3	Perioral eczema, Recurrent aphthous stomatitis, Anoperineal fistula, Diarrhea, Abdominal pain, Re...	OMIM:613960
Autosomal Dominant Polycystic Kidney Disease	Enlarged kidney, Elevated circulating creatinine concentration, Hematuria, Decreased glomerular f...	ORPHA:730
Castleman Disease	Jaundice, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy, Hematuria, Elevated circulating C...	ORPHA:160
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Chronic oral candidiasis, Recurrent otitis media, Chronic mucocutaneous candidiasis, Increased ci...	OMIM:618282
Glycogen Storage Disease Xii	Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bisphosphate aldola...	OMIM:611881
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Recurrent lower respiratory tract infections, Crohn's disease, Optic neuritis, Thyroiditis, Decre...	ORPHA:436159
Wolcott-Rallison Syndrome	Hepatomegaly, Jaundice, Iron deficiency anemia, Elevated circulating hepatic transaminase concent...	ORPHA:1667
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Jaundice, Hemophagoc...	OMIM:267700
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia	OMIM:618309
Pseudomyxoma Peritonei	Intestinal obstruction, Abdominal pain, Constipation, Inflammation of the large intestine, Nausea...	ORPHA:26790
Hereditary Elliptocytosis	Jaundice, Cholelithiasis, Hyperbilirubinemia, Reticulocytosis, Poikilocytosis, Prolonged neonatal...	ORPHA:288
Immunodeficiency 75 With Lymphoproliferation	Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch...	OMIM:619126
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Immunodeficiency, Common Variable, 13	B lymphocytopenia, Acute lymphoblastic leukemia, Pancytopenia	OMIM:616873
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Recurrent otitis media, Increased circulating IgE level, Lack of T cell function, Sinusitis, Recu...	ORPHA:277
Crigler-Najjar Syndrome, Type I	Jaundice, Elevated circulating hepatic transaminase concentration, Unconjugated hyperbilirubinemia	OMIM:218800
Cholestasis, Progressive Familial Intrahepatic, 2	Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic...	OMIM:601847
Mounier-Kühn Syndrome	Pneumonia, Bronchitis, Recurrent respiratory infections, Recurrent bronchopulmonary infections	ORPHA:3347
Bile Acid Synthesis Defect, Congenital, 1	Cirrhosis, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Elevated circu...	OMIM:607765
Alpha-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Hypocalcemia, Ascites, Splenomegaly	ORPHA:100025
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia	OMIM:252270
Burkitt Lymphoma	Abnormal lymph node morphology, Hyperuricemia, Abnormality of the ovary, Decreased proportion of ...	ORPHA:543
Immunodeficiency, Common Variable, 11	Crohn's disease, Mucoid diarrhea, Inflammation of the large intestine	OMIM:615767
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Citrullinemia, Type Ii, Neonatal-Onset	Hypertriglyceridemia, Cirrhosis, Intrahepatic cholestasis, Portal fibrosis, Macrovesicular hepati...	OMIM:605814
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
Ciliary Dyskinesia, Primary, 33	Recurrent otitis media, Atelectasis, Recurrent lower respiratory tract infections, Recurrent bron...	OMIM:616726
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Edinburgh Malformation Syndrome	Jaundice, Neonatal hyperbilirubinemia	OMIM:129850
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Generalized amin...	OMIM:251880
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Recurrent skin infections, Decreased circulating antibody level, Recurrent lower respiratory trac...	OMIM:617744
Diamond-Blackfan Anemia 7	Macrocytic anemia, Increased mean corpuscular volume, Vesicoureteral reflux, Secundum atrial sept...	OMIM:612562
Hypermethioninemia Due To Adenosine Kinase Deficiency	Portal fibrosis, Elevated circulating S-adenosyl-L-homocysteine concentration, Hyperbilirubinemia...	OMIM:614300
Caroli Syndrome	Elevated circulating hepatic transaminase concentration, Leukopenia, Abnormal intrahepatic bile d...	ORPHA:480520
Cardiac-Urogenital Syndrome	Enlarged kidney, Mesocardia, Aplasia of the uterus, Coronary sinus enlargement, Bifid scrotum, Dy...	OMIM:618280
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia, Hepatomegaly, Splenomegaly	OMIM:619175
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Recurrent otitis media, Abnormal immunoglobulin level, Increased circulating IgG level, Chronic m...	ORPHA:98813
Panniculitis-Induced Localized Lipodystrophy	Inflammatory abnormality of the skin, Abnormal immunoglobulin level	ORPHA:90159
Hyperbilirubinemia, Rotor Type	Jaundice, Conjugated hyperbilirubinemia	OMIM:237450
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Colitis, Skin rash, Ileal ulcer, Anterior uveitis	OMIM:616744
Jaundice, Familial Obstructive, Of Infancy	Jaundice, Neonatal hyperbilirubinemia	OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii	Jaundice, Conjugated hyperbilirubinemia	OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal	Jaundice, Neonatal unconjugated hyperbilirubinemia	OMIM:237900
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Hypereosinophilic Syndrome, Idiopathic	Endocardial fibrosis, Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Sple...	OMIM:607685
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Anisopoikilocytosis, Anemia, Elevated circulating hepatic transaminase concentration, Azoospermia...	ORPHA:300298
Thrombocytopenia 5	Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut...	OMIM:616216
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Homocystinuria, Increased mean corpuscular volume, Hyperhomocystinemia, M...	OMIM:277410
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Arthritis, Sterile arthritis, Cystic acne, Acne, Colitis	OMIM:604416
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgE, Eczematoid dermatitis, Decreased circulating IgG level, Pulmonary fibr...	OMIM:619510
Immunodeficiency 68	B lymphocytopenia, Abscess, Abnormal natural killer cell count, T lymphocytopenia	OMIM:612260
Immunodeficiency 43	Lung abscess, Bronchiectasis, Decreased circulating IgG level, Abnormal circulating IgA level, Ab...	OMIM:241600
Diamond-Blackfan Anemia 8	Increased mean corpuscular volume, Macrocytic anemia, Neutropenia	OMIM:612563
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia	OMIM:200900
Bone Marrow Failure Syndrome 6	Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Bone marrow hypocellulari...	OMIM:618849
Wiskott-Aldrich Syndrome 2	Defective T cell proliferation, Reduced natural killer cell activity, Eczematoid dermatitis	OMIM:614493
Immunodeficiency, Common Variable, 10	Recurrent otitis media, Recurrent viral upper respiratory tract infections, Decreased circulating...	OMIM:615577
Fetal Cytomegalovirus Syndrome	Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Thromboc...	ORPHA:294
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2	Enterocolitis	OMIM:620425
Caroli Disease	Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a...	ORPHA:53035
Glycogen Storage Disease Ib	Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Elevated circu...	OMIM:232220
Bone Marrow Failure And Diabetes Mellitus Syndrome	Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia	OMIM:620044
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Hypogonadism, Micropenis, Neonatal hyperbilirubinemia, Cryptorchidism	ORPHA:3363
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Hyperlipoproteinemia, Recurrent pancreatitis	OMIM:118830
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating total IgM, Panniculitis, Optic neuritis, Complete or near-complete absence ...	OMIM:301081
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Abnormal urinary color, Splenomegaly, Increased total bilirubin	ORPHA:90037
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic...	OMIM:211600
Ciliary Dyskinesia, Primary, 9	Chronic otitis media, Pneumonia, Recurrent otitis media, Chronic rhinitis, Recurrent sinusitis, B...	OMIM:612444
Riddle Syndrome	Decreased circulating IgG level, Pulmonary fibrosis	OMIM:611943
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hyperkalemia, Jaundice, Hepatomegaly, Microvesicular hepatic steatosis, Cholestasis, Elevated cir...	OMIM:618528
Immunodeficiency With Hyper-Igm, Type 1	Chronic oral candidiasis, Dysgammaglobulinemia, Recurrent lower respiratory tract infections, Scl...	OMIM:308230
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Biliary atresia, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transp...	OMIM:306955
Galactosemia Iii	Jaundice, Hepatomegaly, Galactosuria, Hypergalactosemia, Splenomegaly, Aminoaciduria	OMIM:230350
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration	OMIM:604765
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypertriglyceridemia, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Pancytopenia, Lymphadenop...	OMIM:603553
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Hepatosplenome...	OMIM:613101
Nephronophthisis 3	Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re...	OMIM:604387
Congenital Megacalycosis	Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph...	ORPHA:93109
Majeed Syndrome	Anemia of inadequate production, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid...	OMIM:609628
Immunodeficiency 56	Recurrent otitis media, Cholangitis, Panhypogammaglobulinemia, Bronchiectasis, Recurrent sinusiti...	OMIM:615207
Autosomal Recessive Polycystic Kidney Disease	Enlarged kidney, Cholestasis, Ascites, Biliary hyperplasia, Splenomegaly, Oliguria, Abnormal intr...	ORPHA:731
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level	OMIM:300861
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Recurrent otitis media, Recurrent lower respiratory tract infections, Panhypogammaglobulinemia, C...	OMIM:600802
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Recurrent respiratory infections, Decreased circulating IgG level	ORPHA:2643
Shwachman-Diamond Syndrome	Aplastic anemia, Elevated circulating hepatic transaminase concentration, Macrocytic anemia, Chro...	ORPHA:811
Rh Deficiency Syndrome	Jaundice, Reduced haptoglobin level, Macrocytic anemia, Hyperbilirubinemia, Hypochromia, Spherocy...	ORPHA:71275
Linear Iga Dermatosis	Inflammation of the large intestine	ORPHA:46488
Hypertriglyceridemia, Transient Infantile	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Sple...	OMIM:614480
Trimethylaminuria	Trimethylaminuria, Anemia, Splenomegaly, Neutropenia	OMIM:602079
Ciliary Dyskinesia, Primary, 21	Recurrent otitis media, Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic sinusitis	OMIM:615294
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Cholestasis, ...	OMIM:619658
Niemann-Pick Disease, Type B	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Sea-blue histiocytosis, Anemia, He...	OMIM:607616
Immunodeficiency 46	Chronic oral candidiasis, Decreased circulating antibody level, Recurrent sinopulmonary infection...	OMIM:616740
Heme Oxygenase 1 Deficiency	Increased circulating ferritin concentration, Hepatomegaly, Hematuria, Lymphadenopathy, Elevated ...	OMIM:614034
Igg4-Related Kidney Disease	Decreased liver function, Enlarged kidney, Sclerosing cholangitis, Pericarditis, Elevated circula...	ORPHA:449395
Lipoyltransferase 1 Deficiency	Decreased liver function, Elevated circulating hepatic transaminase concentration, Increased tota...	OMIM:616299
Mitochondrial Complex I Deficiency, Nuclear Type 39	Perimembranous ventricular septal defect, Anemia, Hypospadias, Hypertrophic cardiomyopathy, Cardi...	OMIM:620135
Secondary Short Bowel Syndrome	Abdominal distention, Steatorrhea, Aganglionic megacolon, Diarrhea, Small intestinal dysmotility,...	ORPHA:95427
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Pulmonary pneumatocele, Recurrent otitis media, Sclerosing cholangitis, Increased circulating IgG...	OMIM:243700
Dominant Beta-Thalassemia	Cirrhosis, Jaundice, Hypochromic microcytic anemia, Abnormality of iron homeostasis, Decreased me...	ORPHA:231226
Immunodeficiency 92	Abnormal B cell proliferation, Cholangitis, Sclerosing cholangitis, Esophagitis, Partial absence ...	OMIM:619652
Immunodeficiency 32B	Abnormal circulating IgG level, Bronchiectasis, Sinusitis, Pneumonia, Recurrent respiratory infec...	OMIM:226990
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Crohn's disease, Decreased circulating IgG level, Bronchiectasis, Decreased circulating total IgM...	OMIM:619705
Hemochromatosis, Type 1	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Azoospermia, He...	OMIM:235200
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con...	OMIM:616828
Ciliary Dyskinesia, Primary, 42	Bronchiectasis, Pneumonia, Recurrent sinusitis, Chronic rhinitis	OMIM:618695
Nephronophthisis 19	Hepatomegaly, Nephronophthisis, Cholestasis, Bile duct proliferation, Hyperechogenic kidneys, Spl...	OMIM:616217
Renal Dysplasia	Pelvic mass, Enlarged kidney, Urinary incontinence, Renal hypoplasia/aplasia, Abnormal nephron mo...	ORPHA:93108
Cholestasis, Progressive Familial Intrahepatic, 8	Cirrhosis, Jaundice, Hepatomegaly, Increased serum bile acid concentration, Sclerosing cholangiti...	OMIM:619662
Dubin-Johnson Syndrome	Jaundice, Hepatomegaly, Biliary tract abnormality, Conjugated hyperbilirubinemia, Abnormality of ...	ORPHA:234
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Reduced delayed hypersensitivity, Increased circulating IgE level, Reduced antigen-specific T cel...	OMIM:617241
Immunodeficiency 64 With Lymphoproliferation	Defective T cell proliferation, Recurrent lower respiratory tract infections, Increased circulati...	OMIM:618534
Immunodeficiency 25	Increased circulating IgG level, Complete or near-complete absence of specific antibody response ...	OMIM:610163
Erythema Elevatum Diutinum	Skin rash, Increased circulating antibody level	ORPHA:90000
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:86893
Glycogen Storage Disease Vii	Jaundice, Exercise-induced myoglobinuria, Hematuria, Cholelithiasis, Hyperuricemia, Elevated circ...	OMIM:232800
H Syndrome	Hypertriglyceridemia, Abnormality of the kidney, Enlarged kidney, Lymphadenopathy, Azoospermia, D...	ORPHA:168569
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas...	OMIM:133180
Hemochromatosis, Type 2A	Cirrhosis, Hepatomegaly, Azoospermia, Cardiomyopathy, Increased circulating iron concentration, S...	OMIM:602390
Gilbert Syndrome	Unconjugated hyperbilirubinemia, Jaundice, Elevated circulating hepatic transaminase concentratio...	OMIM:143500
Hereditary Amyloidosis With Primary Renal Involvement	Decreased liver function, Decreased HDL cholesterol concentration, Decreased glomerular filtratio...	ORPHA:85450
Beta-Thalassemia Major	Anisopoikilocytosis, Cirrhosis, Jaundice, Hepatomegaly, Hypochromic microcytic anemia, Abnormalit...	ORPHA:231214
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abnormality of the kidney, Liver abscess, Abnormal lymph node morphology, Anemia, Elevated circul...	ORPHA:54251
Liver Failure, Infantile, Transient	Jaundice, Macrovesicular hepatic steatosis, Hepatomegaly, Dicarboxylic aciduria, Elevated circula...	OMIM:613070
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Pseudobulbar paralysis, Abnormal fear-induced behavior, Aggressive behavior	ORPHA:208441
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated circulating hepatic transaminase concentration, Cholelithiasis, Renal tubular dysfunctio...	OMIM:614886
Autoimmune Hepatitis	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Sclerosing cholangi...	ORPHA:2137
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Neutropenia, B lymphocytopenia, Intermittent thrombocytopenia, Splenomegaly, Abscess, Abnormal CD...	OMIM:150550
Reticular Dysgenesis	Lack of T cell function, Impaired T cell function	OMIM:267500
Bile Acid Conjugation Defect 1	Jaundice, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Conjugated h...	OMIM:619232
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Recurrent otitis media, Increased circulating IgE level, Eczematoid dermatitis, Keratitis, Bronch...	OMIM:618523
Granulomatous Slack Skin	Hypercalcemia, Acute kidney injury, Nephrocalcinosis, Abnormal lymph node morphology	ORPHA:33111
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Kerion Celsi	Lymphadenopathy	ORPHA:499
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Pancreatitis, Increased serum bile acid concentration, Intrahepatic cholestasis wit...	OMIM:243300
Diamond-Blackfan Anemia	Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt...	ORPHA:124
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Congenital Disorder Of Glycosylation, Type Iic	Recurrent otitis media, Periodontitis, Reduction of neutrophil motility, Bronchiolitis, Pneumonia	OMIM:266265
Denys-Drash Syndrome	Ambiguous genitalia, male, Enlarged kidney, Gonadal dysgenesis, Focal segmental glomerulosclerosi...	OMIM:194080
Tyrosinemia Type 1	Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Acute hepatic failure, Splenom...	ORPHA:882
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Aspiration pneumonia	OMIM:619477
Idiopathic Achalasia	Bronchitis, Recurrent aspiration pneumonia	ORPHA:930
Bone Marrow Failure Syndrome 3	Aplastic anemia, Hyperechogenic pancreas, Anemia, Acute myeloid leukemia, Pancytopenia, Increased...	OMIM:617052
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Bronchitis, Skin rash, Psoriasiform dermatitis, Cholecystitis, Allergic rhinitis, Cholangitis, Ch...	ORPHA:183675
Hardikar Syndrome	Decreased liver function, Elevated circulating hepatic transaminase concentration, Intrahepatic b...	OMIM:301068
Immunodeficiency 27A	Anemia, Thrombocytosis, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Hypoalbu...	OMIM:209950
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Chronic hemolytic anemia, Microvesicular hepatic steatosis, Ventricular hypertrophy...	OMIM:618278
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly	ORPHA:66661
Diamond-Blackfan Anemia 3	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:610629
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni...	OMIM:613011
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Recurrent otitis media, Recurrent lower respiratory tract infections, Partial absence of specific...	OMIM:618986
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Decreased circulating antibody level, Recurrent sinopulmonary ...	OMIM:619846
Relapsing Fever	Acute kidney injury, Jaundice, Anemia, Hematuria, Elevated circulating hepatic transaminase conce...	ORPHA:91547
Agammaglobulinemia 1, Autosomal Recessive	Recurrent otitis media, Panhypogammaglobulinemia, Decreased circulating antibody level, Agammaglo...	OMIM:601495
Pseudo-Torch Syndrome 3	Acute kidney injury, Anemia, Lymphadenitis, Leukocytosis, Proteinuria, Cardiomegaly, Increased ci...	OMIM:618886
Sickle Cell Disease	Jaundice, Hepatomegaly, Hematuria, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells...	OMIM:603903
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal...	OMIM:619375
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:567983
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, T...	OMIM:269600
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Enlarged kidney, Anemia, Patent foramen ovale, Hypertrophic cardiomyopathy, Nephrotic syndrome, B...	ORPHA:505248
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypocholesterolemia, Hypersplenism	OMIM:610539
Ciliary Dyskinesia, Primary, 23	Recurrent otitis media, Chronic rhinitis, Recurrent sinusitis, Recurrent pneumonia, Bronchiectasi...	OMIM:615451
Amyloidosis, Familial Visceral	Hepatomegaly, Hematuria, Cholestasis, Nephrotic syndrome, Splenomegaly, Proteinuria, Renal amyloi...	OMIM:105200
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia	Esophageal food impaction, Esophageal atresia, Gastroesophageal reflux, Eosinophilic microabscess...	ORPHA:411696
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney	OMIM:618272
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Chronic oral candidiasis, Recurrent aphthous stomatitis, Skin rash, Hashimoto thyroiditis, Decrea...	ORPHA:275
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto...	OMIM:614470
Neuraminidase Deficiency	Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Ascites, Urinary ex...	OMIM:256550
Bronchiolitis Obliterans	Bronchiectasis, Pneumonia, Respiratory tract infection, Bronchiolitis obliterans	ORPHA:1303
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,...	OMIM:615631
Tracheobronchomegaly	Bronchiectasis, Recurrent bronchopulmonary infections	OMIM:275300
Beta-Thalassemia	Hepatomegaly, Anemia, Abnormality of iron homeostasis, Cholelithiasis, Hypertrophic cardiomyopath...	ORPHA:848
Ciliary Dyskinesia, Primary, 46	Recurrent sinusitis, Recurrent pneumonia, Recurrent otitis media, Bronchiectasis	OMIM:619436
Muscular Hypertonia, Lethal	Pneumonia	OMIM:254120
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Bronchiectasis, Sinusitis, Increased circulating IgM level, Pneumonia, Decreased circulating IgA ...	OMIM:242860
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomeg...	OMIM:612840
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pneumonia, Recurrent otitis media, Thyroiditis, Colitis, Arthritis, Decreased specific antibody r...	OMIM:614700
Ciliary Dyskinesia, Primary, 27	Recurrent otitis media, Rhinitis, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory infe...	OMIM:615504
Immunodeficiency 22	Chronic oral candidiasis, Panniculitis, Recurrent lower respiratory tract infections, Decreased c...	OMIM:615758
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Myoglobinuria, Hyperbilirubinemia, Reticulocytosis, Decreased hemoglobin concentration, Renal ins...	ORPHA:713
Galactose Epimerase Deficiency	Aminoaciduria, Jaundice, Splenomegaly, Hepatomegaly	ORPHA:79238
Agammaglobulinemia, X-Linked	Recurrent otitis media, Pyoderma, Prostatitis, Recurrent lower respiratory tract infections, Decr...	OMIM:300755
Anemia, Hypochromic Microcytic, With Iron Overload 1	Anemia, Hypochromia, Elevated hepatic iron concentration, Increased circulating iron concentratio...	OMIM:206100
Isolated Biliary Atresia	Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transam...	ORPHA:30391
Immunodeficiency 69	Increased circulating ferritin concentration, Anemia, Hemophagocytosis, Pancytopenia, Leukocytosi...	OMIM:618963
Microlissencephaly	Pneumonia	ORPHA:1083
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Renal hypoplasia/aplasia, Anemia, Hypospadias, Hypoplasia of penis, Ascites, Abnormality of the u...	ORPHA:1046
Bile Acid Synthesis Defect, Congenital, 4	Intrahepatic cholestasis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ...	OMIM:214950
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Decreased circulating antibody level, Recurrent respiratory infections, Intraalveolar phospholipi...	OMIM:618042
Ciliary Dyskinesia, Primary, 41	Recurrent sinusitis, Recurrent otitis media, Bronchiectasis	OMIM:618449
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Increased circulating IgA level, Glomerulonephritis	OMIM:314000
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:545
Lymphoproliferative Syndrome 3	Decreased circulating antibody level, Partial absence of specific antibody response to tetanus va...	OMIM:618261
Acrocephalopolydactylous Dysplasia	Enlarged kidney, Hepatomegaly, Cystic renal dysplasia, Ascites, Hepatic fibrosis, Pancreatic fibr...	OMIM:200995
Neonatal Severe Primary Hyperparathyroidism	Aminoaciduria, Hepatomegaly, Splenomegaly	ORPHA:417
Trichohepatoenteric Syndrome 2	Villous atrophy, Diarrhea, Chronic diarrhea, Bloody diarrhea, Chronic hepatitis, Colitis	OMIM:614602
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Hyperammonemia, Splenomegaly, Hepatic f...	OMIM:271500
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Cardiomyopathy, Splenomegaly, Hypogonadism	OMIM:608540
Wilson Disease	Portal fibrosis, Ascites, Acute hepatic failure, Splenomegaly, High nonceruloplasmin-bound serum ...	OMIM:277900
Carnitine Deficiency, Systemic Primary	Dicarboxylic aciduria, Hepatomegaly, Decreased circulating carnitine concentration, Microvesicula...	OMIM:212140
Immunodeficiency 67	Liver abscess, Abnormal natural killer cell count, Abnormal T cell count, Transient neutropenia, ...	OMIM:607676
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged kidney, Enlarged polycystic ovaries, Polycystic ovaries	ORPHA:90301
Glycogen Storage Disease Ia	Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Elevated circu...	OMIM:232200
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Recurrent skin infections, Recurrent respiratory infections, Decreased circulating total IgM, Dec...	OMIM:620210
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Anemia, Pancreatitis, Cardiomyopathy, Hyperammonemia, Thrombocytopenia, Splenomegal...	ORPHA:79312
Ciliary Dyskinesia, Primary, 39	Bronchiectasis, Recurrent otitis media, Recurrent lower respiratory tract infections	OMIM:618254
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Hyperlipidemia, Portal hy...	ORPHA:1414
Hypermanganesemia With Dystonia 1	Decreased liver function, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conc...	OMIM:613280
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Cirrhosis, Anemia, Increased mean corpuscular volume, Bone marrow hypocellularit...	OMIM:127550
Leishmaniasis	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, P...	ORPHA:507
Ciliary Dyskinesia, Primary, 44	Bronchiectasis, Recurrent sinusitis, Otitis media	OMIM:618781
Immunodeficiency 81	Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Abnormally lo...	OMIM:619374
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Cardiomegaly, Renal cortical cysts, Vesicoureteral reflux, Cardiom...	OMIM:130650
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Enlarged kidney, Transposition of the great arteries, Atrioventricular canal defect, Dextrocardia...	OMIM:314390
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i...	OMIM:603909
Acute Lung Injury	Abnormal circulating cytokine concentration, Abnormal pulmonary interstitial morphology, Increase...	ORPHA:178320
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Cryptorchidism, Thrombocytopenia, Dilated cardiomyopathy, Vent...	ORPHA:261250
Familial Pseudohyperkalemia	Hyperkalemia, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stom...	ORPHA:90044
Complement Factor B Deficiency	Pneumonia, Decreased circulating complement factor B concentration, Peritonitis	OMIM:615561
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Hemolytic-uremic syndrome, Hemophagocytosis, Lymphadenopathy, Elevated circulating ...	OMIM:619644
Paternal Uniparental Disomy Of Chromosome 1	Enlarged kidney, Episodic hemolytic anemia, Increased blood urea nitrogen, Hypercalcemia, Protein...	ORPHA:251004
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Abdominal pain, Necrotizing enterocolitis, High palate, Vomiting, Feeding difficulties	OMIM:616809
Fanconi-Bickel Syndrome	Intrahepatic cholestasis, Hepatomegaly, Increased serum bile acid concentration, Generalized amin...	OMIM:227810
Bone Marrow Failure Syndrome 4	Bone marrow hypocellularity, Recurrent respiratory infections, Decreased circulating antibody lev...	OMIM:618116
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Bilia...	ORPHA:79301
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi...	ORPHA:75564
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Ileal atresia, Intestinal obstruction, Intestinal atresia, Bloody diarrhea, Intestinal malrotatio...	OMIM:243150
Immunodeficiency 12	Cheilitis, Absent isohemagglutinin level, Recurrent lower respiratory tract infections, Recurrent...	OMIM:615468
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Pneumonia, Salmonella osteomyelitis, Abnormal circulating interleukin concentration, Lymphadenitis	ORPHA:319552
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Genital ulcers, Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Lymph node ...	OMIM:602450
Megaloblastic Anemia, Folate-Responsive	Increased circulating ferritin concentration, Hyperhomocystinemia, Folate-responsive megaloblasti...	OMIM:601775
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, El...	OMIM:308240
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Hepatocellular adenoma, Hepatomegaly, Pancreatitis, Anemia, Enlarged kidney...	ORPHA:79259
Tularemia	Pneumonia, Increased circulating antibody level, Inflammatory abnormality of the eye, Skin rash, ...	ORPHA:3392
Schnitzler Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Splenomegaly	ORPHA:37748
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Intrahepatic cholestasis, Increased serum bile acid concentration, Hyperbilirubinemia, Elevated c...	OMIM:619685
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Chronic oral candidiasis, Abnormal immunoglobulin level, Increased circulating IgG level, Skin ra...	ORPHA:276
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Lathosterolosis	Bilobate gallbladder, Anisopoikilocytosis, Ambiguous genitalia, male, Intrahepatic cholestasis, H...	OMIM:607330
Progressive Familial Intrahepatic Cholestasis	Jaundice, Hepatomegaly, Hypocalcemia, Cholestasis, Splenomegaly	ORPHA:172
Liver Disease, Severe Congenital	Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Lymphocytosis, ...	OMIM:619991
Adult Acute Respiratory Distress Syndrome	Pulmonary edema, Increased circulating interleukin 6 concentration, Pancreatitis, Abnormal circul...	ORPHA:70578
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus	Recurrent sinusitis, Recurrent pneumonia, Recurrent otitis media, Bronchiectasis	OMIM:620032
Autoinflammation With Infantile Enterocolitis	Episodic vomiting, Skin rash, Enterocolitis, Secretory diarrhea, Feeding difficulties in infancy,...	OMIM:616050
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Leukopenia, Splenomegaly, Acute he...	OMIM:278000
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Elevated urinary inosine level, Hypouricemia, Neutropenia in presenc...	OMIM:613179
Alopecia Antibody Deficiency	Recurrent respiratory infections, Decreased circulating antibody level	ORPHA:1006
Immunodeficiency 40	Intermittent diarrhea, Chronic oral candidiasis, Rectal fistula, Recurrent otitis media, Focal ac...	OMIM:616433
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyperalaninemia, Cardiomeg...	OMIM:619064
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic ste...	OMIM:600649
Immunodeficiency 36 With Lymphoproliferation	Recurrent lower respiratory tract infections, Decreased circulating IgG level, Increased circulat...	OMIM:616005
Diaphanospondylodysostosis	Enlarged kidney, Abnormal liver lobulation, Nephroblastomatosis, Nephrogenic rest, Horseshoe kidn...	OMIM:608022
Coproporphyria, Hereditary	Elevated urinary delta-aminolevulinic acid, Jaundice, Hepatomegaly, Increased urinary porphobilin...	OMIM:121300
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome	Aspiration pneumonia	OMIM:609528
Esophagitis, Eosinophilic, 2	Vomiting, Esophagitis, Dysphagia	OMIM:613412
Esophagitis, Eosinophilic, 1	Vomiting, Esophagitis, Dysphagia	OMIM:610247
Griscelli Syndrome Type 2	Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Hyperlipidemia, Splenome...	ORPHA:79477
Cold Agglutinin Disease	Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color, Hemolytic anemia	ORPHA:56425
T-Cell Immunodeficiency With Thymic Aplasia	Reduced delayed hypersensitivity, Emphysema, Pyoderma, Recurrent bronchopulmonary infections, Ecz...	OMIM:242700
Ciliary Dyskinesia, Primary, 36, X-Linked	Chronic otitis media, Recurrent respiratory infections, Recurrent sinusitis, Bronchiectasis	OMIM:300991
Papa Syndrome	Increased circulating antibody level, Myositis, Arthritis, Crohn's disease, Pustule, Acne, Increa...	ORPHA:69126
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Anemia, Hypochromic microcytic anemia, Pancytopenia, Hypocalcemia, Hyperbilirubinem...	OMIM:259720
Ciliary Dyskinesia, Primary, 3	Recurrent sinusitis, Recurrent respiratory infections, Recurrent otitis media, Bronchiectasis	OMIM:608644
Rhabdoid Tumor	Renal neoplasm, Hematuria, Anemia, Lymphadenopathy, Thrombocytopenia, Hypercalcemia, Neoplasm of ...	ORPHA:69077
Pneumocystosis	Chronic oral candidiasis, Increased circulating antibody level, Acute infectious pneumonia, Pleur...	ORPHA:723
Bronchiectasis With Or Without Elevated Sweat Chloride 2	Bronchiectasis, Recurrent bronchiolitis, Chronic bronchitis	OMIM:613021
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hyperbilirubinemia, Reduced erythrocyte adenosine triphosphate concentration, Reticulocytosis, Er...	OMIM:301083
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Asymmetric septal hypertrophy, Splenomegaly, Cardiomegaly, Heparan sulfate excretio...	OMIM:252920
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Recurrent urinary tract infections, S...	OMIM:618495
Peroxisome Biogenesis Disorder 5A (Zellweger)	Increased circulating very long-chain fatty acid concentration, Jaundice, Hepatomegaly, Hypospadi...	OMIM:614866
Pearson Marrow-Pancreas Syndrome	Hepatomegaly, Refractory sideroblastic anemia, Anemia, Elevated circulating hepatic transaminase ...	OMIM:557000
Macrophage Activation Syndrome	Decreased liver function, Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal ...	ORPHA:158061
Bare Lymphocyte Syndrome, Type Ii	Villous atrophy, Cholangitis, Chronic mucocutaneous candidiasis, Viral hepatitis, Malabsorption, ...	OMIM:209920
Immunodeficiency 10	Increased circulating IgG3 level, Recurrent otitis media, Increased circulating IgA level, Decrea...	OMIM:612783
Diamond-Blackfan Anemia 1	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:105650
Autosomal Agammaglobulinemia	Chronic otitis media, Arthritis, Skin rash, Agammaglobulinemia, Sinusitis, Conjunctivitis, Bronch...	ORPHA:33110
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Hepatomegaly, Splenomegaly	OMIM:619462
Epilepsy-Telangiectasia Syndrome	Decreased circulating antibody level, Decreased circulating IgA level	ORPHA:1951
Refractory Anemia With Excess Blasts	Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal circulating protein ...	ORPHA:86839
Immunodeficiency 58	Chronic otitis media, Recurrent aphthous stomatitis, Seborrheic dermatitis, Chronic mucocutaneous...	OMIM:618131
Wolman Disease	Hepatomegaly, Acute hepatic failure, Splenomegaly	OMIM:620151
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:42642
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Decreased liver function, Intrahepatic cholestasis, Jaundice, Duplicated collecting system, Eleva...	OMIM:617093
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Perianal abscess, Anoperineal fistula, Diarrhea, Chronic gastritis, Skin rash, Abdominal pain, Ar...	OMIM:301074
Cholestasis, Benign Recurrent Intrahepatic, 2	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Cholelithiasis, Conjugated hyperbilirubinemia	OMIM:605479
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Cardiomyopathy, Spleno...	ORPHA:93476
Graft Versus Host Disease	Jaundice, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Hemophagocyto...	ORPHA:39812
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Hypercholesterolemia, Hepa...	ORPHA:75234
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Hypoplasia of the ...	OMIM:619313
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Elevated circulatin...	OMIM:602347
Adams-Oliver Syndrome 6	Truncus arteriosus, Portal hypertension, Renal hypoplasia, Splenomegaly, Hepatic fibrosis, Ventri...	OMIM:616589
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Chronic oral candidiasis, Acute otitis media, Skin rash, Lack of T cell function, Partial IgA def...	ORPHA:35078
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, Spl...	OMIM:613490
Chilblain Lupus	Increased circulating antibody level, Malar rash, Skin rash, Discoid lupus rash, Inflammatory abn...	ORPHA:90280
Aspergillosis	Hypersensitivity pneumonitis, Pleuritis, Increased circulating IgE level, Pleural effusion, Bronc...	ORPHA:1163
Primary Myelofibrosis	Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Leukocytosis, Portal hyperte...	ORPHA:824
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Leukocytosis, Splenomegaly, Elevated circulating C-reactive protein concentration	OMIM:611762
X-Linked Sideroblastic Anemia	Elevated circulating hepatic transaminase concentration, Abnormality of iron homeostasis, Anemia,...	ORPHA:75563
Lymphoid Interstitial Pneumonia	Enlarged kidney, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:79128
Dyskeratosis Congenita, Autosomal Recessive 5	Esophageal stenosis, Colitis	OMIM:615190
Idiopathic Bronchiectasis	Emphysema, Recurrent lower respiratory tract infections, Acute infectious pneumonia, Respiratory ...	ORPHA:60033
Autoinflammatory Disease, Systemic, With Vasculitis	Jaundice, Hepatomegaly, Anemia, Elevated circulating C-reactive protein concentration, Congenital...	OMIM:620376
Indolent Systemic Mastocytosis	Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega...	ORPHA:98848
Adult-Onset Still Disease	Myocarditis, Abnormal circulating lipid concentration, Increased circulating ferritin concentrati...	ORPHA:829
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect, Hyperprolinemia, Hyperalaninemia	OMIM:619170
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hyperkalemia, Jaundice, Hepatomegaly, Splenomegaly, Conjugated hyperbilirubinemia, Stomatocytosis...	OMIM:608885
Hyperparathyroidism, Transient Neonatal	Enlarged kidney, Ovarian cyst, Unilateral renal agenesis, Splenic cyst	OMIM:618188
Abetalipoproteinemia	Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Decreas...	ORPHA:14
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Anorexia, Irritability, Abnormal fear-induced behavior, Hyperactivity, Abnormal aggressive, impul...	ORPHA:3077
Isolated Congenital Hypoglossia/Aglossia	Aspiration pneumonia	ORPHA:141152
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant...	OMIM:601859
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Chronic otitis media, Recurrent respiratory infections, Atelectasis, Bronchiectasis	OMIM:619466
Classic Mycosis Fungoides	Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly	ORPHA:2584
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hypertyrosinemia, M...	OMIM:617156
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy, Decreased HDL cholesterol concentration	ORPHA:79292
Alg9-Cdg	Atrial septal defect, Enlarged kidney, Hepatomegaly, Periportal fibrosis, Abnormal left ventricul...	ORPHA:79328
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Renal cortical adenoma, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy, Pa...	ORPHA:97290
Aicardi-Goutieres Syndrome 6	Hepatomegaly, Thrombocytopenia, Splenomegaly, Hemolytic anemia	OMIM:615010
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Skin rash, Decreased circulating antibody level, Lymphadenitis, Reduced antigen-specific T cell p...	ORPHA:331206
Neuronal Intestinal Pseudoobstruction	Decreased circulating antibody level	ORPHA:99811
C1Q Deficiency 2	Recurrent otitis media, Atelectasis, Recurrent lower respiratory tract infections, Malar rash, Ar...	OMIM:620321
Beckwith-Wiedemann Syndrome	Enlarged kidney, Ureteral duplication, Splenomegaly, Multiple renal cysts, Cardiomegaly, Abnormal...	ORPHA:116
Desmoplastic Small Round Cell Tumor	Hepatomegaly, Anemia, Lymphadenopathy, Neoplasm of the pancreas, Abnormal peritoneum morphology, ...	ORPHA:83469
Bare Lymphocyte Syndrome, Type I	Chronic otitis media, Emphysema, Recurrent bronchitis, Bronchiolitis, Bronchiectasis, Chronic sin...	OMIM:604571
Glut1 Deficiency Syndrome 2	Reduced haptoglobin level, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal tubular epithelial necrosis, Myoglobinuria, Red-brown urine, Cardiomyopathy, Hyperlipidemia...	ORPHA:228308
Ciliary Dyskinesia, Primary, 28	Recurrent otitis media, Rhinitis, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory infe...	OMIM:615505
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Dicarboxylic aciduria, Exercise-induced myoglobinuria, Periportal fibrosis, Decreas...	OMIM:201475
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Pericar...	ORPHA:846
Eisenmenger Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Hepatomegaly, Hypochromic microcyt...	ORPHA:97214
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leu...	ORPHA:457077
Peroxisome Biogenesis Disorder 13A (Zellweger)	Increased circulating very long-chain fatty acid concentration, Dicarboxylic aciduria, Intrahepat...	OMIM:614887
Lymphoproliferative Syndrome 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Ascites, Hepatosp...	OMIM:615122
Immunodeficiency 7	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut...	OMIM:615387
Reticular Dysgenesis	Chronic otitis media, Skin rash, Decreased circulating antibody level, Recurrent respiratory infe...	ORPHA:33355
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Decreased liver function, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating hepatic trans...	ORPHA:42
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating hepatic transaminase concentration, Ren...	OMIM:255120
Immunodeficiency 116	Bronchiectasis, Recurrent respiratory infections	OMIM:608957
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Hepatomegaly, Hypercholesterolemia, Hypocalcemia, Hepatosplenomegaly, Splen...	OMIM:612526
Ataxia-Pancytopenia Syndrome	Recurrent respiratory infections, Decreased circulating antibody level, Abnormal platelet function	ORPHA:2585
Babesiosis	Jaundice, Hepatomegaly, Leukopenia, Splenomegaly, Thrombocytopenia, Renal insufficiency, Hemolyti...	ORPHA:108
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Increased circulating ferritin concentration, ...	OMIM:619802
Attrv30M Amyloidosis	Cardiomegaly, Cardiomyopathy, Abnormal renal physiology, Nephropathy	ORPHA:85447
Familial Atrial Myxoma	Jaundice, Bacterial endocarditis, Cardiac myxoma, Cholestasis, Ascites, Pulmonic valve myxoma, Ca...	ORPHA:615
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, V...	OMIM:615895
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Macrocytic anemia, Increased serum pyruvate, Cardiomyopathy, Hyperalaninemia, Splenomegaly, Hyper...	OMIM:619046
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure	OMIM:616719
Hemihyperplasia-Multiple Lipomatosis Syndrome	Enlarged kidney, Abnormality of the lymphatic system, Nephroblastoma, Ovarian serous cystadenoma,...	ORPHA:276280
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Pericarditi...	ORPHA:85414
Omenn Syndrome	Anemia, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymphocytopenia, Thrombocytopenia, ...	OMIM:603554
Transaldolase Deficiency	Decreased liver function, Atrial septal defect, Cirrhosis, Hepatomegaly, Anemia, Clitoral hypertr...	OMIM:606003
Ciliary Dyskinesia, Primary, 45	Bronchiectasis, Recurrent respiratory infections, Chronic rhinitis	OMIM:618801
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Pneumonia, Recurrent otitis media, Pyoderma, Prostatitis, Panhypogammaglobulinemia, Enteroviral h...	OMIM:307200
Agammaglobulinemia 9, Autosomal Recessive	Thrombocytopenia, Absent circulating B cells	OMIM:619693
Primary Biliary Cholangitis	Abnormal circulating lipid concentration, Cirrhosis, Jaundice, Hepatomegaly, Hypercholesterolemia...	ORPHA:186
Griscelli Syndrome	Abnormal circulating lipid concentration, Jaundice, Hepatomegaly, Lymphadenopathy, Ascites, Bone ...	ORPHA:381
Cinca Syndrome	Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukocytosis, Hep...	OMIM:607115
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Decreased proportion of CD3-positive T cells, Lymph...	ORPHA:169154
Legionnaires Disease	Myocarditis, Jaundice, Pancreatitis, Lymphadenopathy, Hematuria, Renal insufficiency, Bone marrow...	ORPHA:549
Selective Igm Deficiency	Crohn's disease, Recurrent vulvovaginal candidiasis, Decreased specific antibody response to vacc...	ORPHA:331235
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Pneumonia	ORPHA:85179
Symptomatic Form Of Hfe-Related Hemochromatosis	Cirrhosis, Hepatomegaly, Abnormality of iron homeostasis, Hepatocellular carcinoma, Chronic hepat...	ORPHA:465508
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Vesic...	OMIM:617394
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Abnormal intestine morphology, Psoriasiform dermatitis, Dependency on intravenous nutrition, Thyr...	ORPHA:37042
Immunodeficiency 115 With Autoinflammation	Intestinal lymphangiectasia, Anemia, Elevated circulating C-reactive protein concentration, Eleva...	OMIM:620632
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Iron deficiency anemia, Hepatosplenomegaly, Cardiomegaly, Glomerulonephritis	ORPHA:99931
Spondyloarthropathy, Susceptibility To, 1	Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthritis, Enthesitis, Anteri...	OMIM:106300
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Decreased liver function, Hypertriglyceridemia, Jaundice, Hepatomegaly...	ORPHA:540
Xq28 (MECP2) duplication	Recurrent respiratory infections, Decreased circulating IgA level	DECIPHER:45
Leukodystrophy, Hypomyelinating, 24	B lymphocytopenia	OMIM:619851
Combined Immunodeficiency Due To Zap70 Deficiency	Chronic oral candidiasis, Stomatitis, Chronic diarrhea, Skin rash, Chronic mucocutaneous candidia...	ORPHA:911
Shigellosis	Anorexia, Myocarditis, Acute colitis, Abdominal pain, Arthritis, Intestinal perforation, Bloody d...	ORPHA:810
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Ascites, Elevated ...	OMIM:257200
Glycogen Storage Disease Ixa1	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hype...	OMIM:306000
Mucolipidosis Ii Alpha/Beta	Enlarged kidney, Hepatomegaly, Increased serum beta-hexosaminidase, Hypertrophic cardiomyopathy, ...	OMIM:252500
Roifman Syndrome	Hepatomegaly, Lymphadenopathy, Noncompaction cardiomyopathy, Splenomegaly, Eosinophilia, Ventricu...	OMIM:616651
Retinal Dystrophy And Microvillus Inclusion Disease	Bronchiectasis, Recurrent lower respiratory tract infections, Recurrent upper respiratory tract i...	OMIM:619446
Isolated Agammaglobulinemia	Pneumonia, Inflammatory abnormality of the eye, Arthritis, Skin rash, Sinusitis, Otitis media, Re...	ORPHA:229717
Cranioectodermal Dysplasia 2	Hepatomegaly, Portal fibrosis, Cholangitis, Elevated circulating hepatic transaminase concentrati...	OMIM:613610
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hyperbilirubinemia, Hemoglobinuria, Hemolytic anemia, Reticulocytosis	OMIM:266120
Interstitial Lung Disease 1	Intralobular septal thickening, Nonspecific interstitial pneumonia, Elevated bronchoalveolar lava...	OMIM:619611
Uruguay Faciocardiomusculoskeletal Syndrome	Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Ventricular hyp...	OMIM:300280
Familial Nasal Acilia	Atelectasis, Chronic rhinitis, Recurrent upper respiratory tract infections, Bronchiectasis, Chro...	ORPHA:922
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr...	OMIM:194380
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Prolonged neonatal jaundice, Abnormal circulating thyroglobulin concentration, Conjugated hyperbi...	ORPHA:95715
Alopecia Totalis	Inflammation of the large intestine	ORPHA:700
Hypocomplementemic Urticarial Vasculitis	Glomerulopathy, Hepatomegaly, Hematuria, Lymphadenopathy, Abnormal heart valve morphology, Ascite...	ORPHA:36412
Neonatal Lupus Erythematosus	Aplastic anemia, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, P...	ORPHA:398124
Glycogen Storage Disease Ixb	Hyperuricemia, Hepatomegaly, Splenomegaly, Increased hepatic glycogen content	OMIM:261750
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Fumarase Deficiency	Bilateral fetal pyelectasis, Intrahepatic cholestasis, Perimembranous ventricular septal defect, ...	OMIM:606812
Ogden Syndrome	Left atrial enlargement, Enlarged kidney, Bicuspid aortic valve, Cardiomegaly, Perimembranous ven...	OMIM:300855
Ciliary Dyskinesia, Primary, 17	Recurrent otitis media, Chronic rhinitis, Bronchiectasis, Recurrent respiratory infections, Chron...	OMIM:614679
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pancytopenia, Thrombocytop...	OMIM:610333
Rh-Null, Amorph Type	Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Stomatocytosis, Hemolytic anemia	OMIM:617970
Immunodeficiency 54	Lymphadenopathy, Reduced natural killer cell count, Splenomegaly, Hepatomegaly	OMIM:609981
Idiopathic Congenital Hypothyroidism	Prolonged neonatal jaundice, Neonatal hyperbilirubinemia	ORPHA:95717
Glycogen Storage Disease Of Heart, Lethal Congenital	Enlarged kidney, Cardiomyopathy, Ascites, Hypertrophic cardiomyopathy, Pericardial effusion, Card...	OMIM:261740
Cholestasis, Progressive Familial Intrahepatic, 5	Cirrhosis, Jaundice, Ascites, Elevated circulating alanine aminotransferase concentration, Hypera...	OMIM:617049
Whim Syndrome	Severe periodontitis, Atelectasis, Parotitis, Decreased circulating antibody level, Lymphadenitis...	ORPHA:51636
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
Rigid Spine Syndrome	Pneumonia	ORPHA:97244
Ciliary Dyskinesia, Primary, 11	Chronic rhinitis, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory infections, Chronic ...	OMIM:612649
Ciliary Dyskinesia, Primary, 25	Recurrent otitis media, Chronic rhinitis, Recurrent pneumonia, Recurrent sinusitis, Bronchiectasi...	OMIM:615482
Biliary, Renal, Neurologic, And Skeletal Syndrome	Inlet ventricular septal defect, Intrahepatic bile duct dilatation, Cholestasis, Biliary cirrhosi...	OMIM:619534
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Anemia, Hypospadias, Hypocalcemia, Hyperbilirubinemia, Cryptorchidism, Hydronephrosis, Thrombocyt...	ORPHA:163979
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Abnormal fallopian tube morphology, Hypocalcemia, Abnormal renal morphology, Pancre...	ORPHA:1655
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:391
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Nephrotic syndrome, He...	OMIM:618935
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Splenomegaly, Hyperammonemia, Hepatic failure	ORPHA:664
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso...	ORPHA:3226
Bronchiectasis With Or Without Elevated Sweat Chloride 1	Bronchiectasis, Chronic bronchitis	OMIM:211400
Reynolds Syndrome	Calcinosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hype...	OMIM:613471
Aggressive Systemic Mastocytosis	Decreased liver function, Anemia, Lymphadenopathy, Increased proportion of CD25+ mast cells, Panc...	ORPHA:98850
Common Variable Immunodeficiency	Chronic otitis media, Emphysema, Recurrent bronchitis, Decreased circulating antibody level, Bron...	ORPHA:1572
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Nephronophthisis, Cholestasis, Splenomegaly, Chronic kidney disease, Hepatic fibros...	OMIM:615630
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Abnormality of the urinary system, Splenomegaly	ORPHA:2204
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Abnormality of the kidney, Hyperbilirubinemia, Ascites, Hypertrophic cardiomyopathy, Abnormal hea...	ORPHA:464321
Dyskeratosis Congenita, Autosomal Recessive 8	Pancolitis, Inflammation of the large intestine, Esophageal stricture, Oral leukoplakia	OMIM:620133
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Portal hyper...	OMIM:617068
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly	ORPHA:721
Familial Papillary Or Follicular Thyroid Carcinoma	Papillary renal cell carcinoma, Abnormal lymph node morphology, Chronic noninfectious lymphadenop...	ORPHA:319487
Roifman Syndrome	Lymphadenopathy, Noncompaction cardiomyopathy, Hepatosplenomegaly, Eosinophilia, Hypogonadotropic...	ORPHA:353298
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Degcags Syndrome	Cholestasis, Abnormal spleen morphology, Pulmonic stenosis, Leukopenia, Congenital hypoplastic an...	OMIM:619488
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Nephrotic sy...	ORPHA:39041
Laryngeal Neuroendocrine Tumor	Elevated circulating carcinoembryonic antigen concentration, Chronic noninfectious lymphadenopathy	ORPHA:100083
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Hypertrophic cardiomyopathy	OMIM:614096
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Hepatomegaly, Anemia, R...	ORPHA:264580
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hemophagocytosis, B lymphocytopenia, Bone marrow hypocellularity, Ag...	OMIM:301078
Ciliary Dyskinesia, Primary, 53	Abdominal situs inversus, Situs inversus totalis, Perimembranous ventricular septal defect, Paten...	OMIM:620642
Cyclic Neutropenia	Perianal abscess, Periodontitis, Abdominal pain, Sinusitis, Enterocolitis, Otitis media, Peritoni...	ORPHA:2686
Zygomycosis	Hematemesis, Gastrointestinal hemorrhage, Acute infectious pneumonia, Sinusitis, Pericarditis, Pu...	ORPHA:73263
Pyoderma Gangrenosum	Myositis, Inflammation of the large intestine, Pustule, Rheumatoid arthritis	ORPHA:48104
Combined Oxidative Phosphorylation Deficiency 10	Hyperalaninemia, Ascites, Hypertrophic cardiomyopathy, Pericardial effusion, Hyperammonemia, Card...	OMIM:614702
Microphthalmia, Syndromic 9	Multilobulated spleen, Hypoplastic left atrium, Pelvic kidney, Truncus arteriosus, Ventricular se...	OMIM:601186
Meacham Syndrome	Hydrometrocolpos, Situs inversus totalis, Transposition of the great arteries, Abnormal fallopian...	ORPHA:3097
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Skin rash, Chronic mucocutaneous candidiasis, Increased circulating IgE level, Sinusitis, Recurre...	OMIM:102700
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni...	OMIM:314050
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Cholestasis, Progressive Familial Intrahepatic, 6	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Conjugated hyp...	OMIM:619484
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Chronic oral candidiasis, Decreased specific anti-polysaccharide antibody level, Recurrent respir...	OMIM:606367
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy	ORPHA:50251
Ciliary Dyskinesia, Primary, 35	Chronic otitis media, Chronic rhinitis, Recurrent pneumonia, Bronchiectasis, Chronic sinusitis	OMIM:617092
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Macroorchidism	OMIM:300886
Immunodeficiency By Defective Expression Of Mhc Class Ii	Acute otitis media, Sclerosing cholangitis, Panhypogammaglobulinemia, Skin rash, Chronic mucocuta...	ORPHA:572
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Eleva...	OMIM:619750
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Recurrent lower respiratory tract infections, Decreased circulating antibody level, Interstitial ...	OMIM:615952
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Arthritis, Skin rash, Palmoplantar pustulosis, Poor appetite, Inflammation of the large intestine...	ORPHA:324964
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, ...	OMIM:619463
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog...	ORPHA:100026
Amoebiasis Due To Entamoeba Histolytica	Intestinal obstruction, Acute colitis, Abdominal pain, Diarrhea, Bloody diarrhea, Gastrointestina...	ORPHA:67
Riddle Syndrome	Abnormal pulmonary interstitial morphology, Bronchitis, Arthritis, Decreased circulating IgG leve...	ORPHA:420741
Intrahepatic Cholestasis Of Pregnancy	Jaundice, Elevated circulating hepatic transaminase concentration, Increased serum bile acid conc...	ORPHA:69665
Leprechaunism	Enlarged kidney, Hepatomegaly, Clitoral hypertrophy, Hypokalemia, Long penis, Hypercalciuria, Hyp...	ORPHA:508
Autoinflammation, Immune Dysregulation, And Eosinophilia	Atopic dermatitis, Membranous nephropathy, Eosinophilic liver infiltration, Colonic eosinophilia	OMIM:618999
Ciliary Dyskinesia, Primary, 43	Recurrent lower respiratory tract infections, Chronic rhinitis, Recurrent upper respiratory tract...	OMIM:618699
Immunodeficiency 114, Folate-Responsive	Hypertriglyceridemia, Hepatomegaly, Megaloblastic anemia, Thrombocytopenia, Splenomegaly, Lymphop...	OMIM:620603
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Lymphadenopathy, Azoospermia, Pancreatic hypoplasia, Hypergonadotropic hypogonadism...	OMIM:602782
Felty Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Recurrent urinary tract infections, Abnormal lymphocyte mo...	ORPHA:47612
Congenital Rubella Syndrome	Jaundice, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly, Atrial septal defect, Ventricular...	ORPHA:290
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Ciliary Dyskinesia, Primary, 24	Recurrent sinusitis, Recurrent otitis media, Chronic rhinitis, Bronchiectasis	OMIM:615481
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Mulibrey Nanism	Hepatomegaly, Ascites, Pericardial constriction, Myocardial fibrosis, Cardiomegaly, Nephroblastoma	OMIM:253250
Mixed-Type Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Abnormal urinary color, Increased total bilirubin	ORPHA:90036
Scedosporiosis	Pleuritis, Bronchitis, Pleural empyema, Sinusitis, Pericarditis, Arthralgia/arthritis, Septic art...	ORPHA:449280
Ciliary Dyskinesia, Primary, 26	Recurrent otitis media, Rhinitis, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory infe...	OMIM:615500
Scrub Typhus	Myocarditis, Lymphadenopathy, Renal insufficiency, Splenomegaly	ORPHA:83317
Hijazi-Reis Syndrome	Hyperbilirubinemia	OMIM:301094
Congenital Disorder Of Glycosylation, Type Iil	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Unilateral rena...	OMIM:614576
Multicystic Dysplastic Kidney	Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r...	ORPHA:1851
Immunodeficiency 9	Recurrent aphthous stomatitis, Stomatitis, Decreased circulating IgG level, Decreased circulating...	OMIM:612782
Kimura Disease	Follicular hyperplasia, Eosinophilia, Lymphadenopathy	ORPHA:482
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hyperalaninemia, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly	OMIM:619051
Ciliary Dyskinesia, Primary, 5	Recurrent otitis media, Chronic rhinitis, Recurrent sinusitis, Recurrent pneumonia, Bronchiectasi...	OMIM:608647
Cinca Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leu...	ORPHA:1451
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyperuricemia, Increased u...	ORPHA:348
Mirizzi Syndrome	Jaundice, Pancreatitis, Elevated circulating hepatic transaminase concentration, Cholelithiasis, ...	ORPHA:521219
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Abnormal immunoglobulin level	OMIM:618752
Sapho Syndrome	Steatorrhea, Chronic diarrhea, Skin rash, Abdominal pain, Arthritis, Synovitis, Palmoplantar pust...	ORPHA:793
Endocrine-Cerebroosteodysplasia	Enlarged kidney, Hypospadias, Microphallus, Hyperechogenic kidneys, Small scrotum, Ambiguous geni...	OMIM:612651
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly	ORPHA:158029
Car T Cell Therapy-Associated Cytokine Release Syndrome	Acute kidney injury, Elevated circulating hepatic transaminase concentration, Hyperbilirubinemia,...	ORPHA:542323
Ciliary Dyskinesia, Primary, 32	Recurrent otitis media, Chronic rhinitis, Bronchiectasis, Recurrent respiratory infections, Chron...	OMIM:616481
Q Fever	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Hematuria, Elevated circulating hepatic trans...	ORPHA:781
Cirrhotic Cardiomyopathy	Left atrial enlargement, Abnormal circulating B-type natriuretic peptide concentration, Cirrhosis...	ORPHA:57777
Ciliary Dyskinesia, Primary, 34	Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis, Chronic rhinitis	OMIM:617091
American Trypanosomiasis	Myocarditis, Hepatomegaly, Lymphadenopathy, Cardiomyopathy, Splenomegaly	ORPHA:3386
Tangier Disease	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased circulatin...	OMIM:205400
Gaucher Disease Type 1	Cirrhosis, Hepatomegaly, Anemia, Hematuria, Cholelithiasis, Pancytopenia, Decreased HDL cholester...	ORPHA:77259
Mitchell-Riley Syndrome	Annular pancreas, Biliary atresia, Hyperbilirubinemia, Pancreatic hypoplasia, Cholestasis, Ascite...	OMIM:615710
Rh-Null, Regulator Type	Stomatocytosis, Jaundice, Hemolytic anemia, Unconjugated hyperbilirubinemia	OMIM:268150
Attrv122I Amyloidosis	Anemia, Increased circulating NT-proBNP concentration, Cardiac amyloidosis, Restrictive cardiomyo...	ORPHA:85451
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Decreased proporti...	OMIM:617237
Cryoglobulinemic Vasculitis	Glomerulopathy, Hepatomegaly, Mediastinal lymphadenopathy, Hematuria, Viral hepatitis, Splenomega...	ORPHA:91138
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Acute kidney injury, Pancreatitis, Hypokalemia, Anuria, Leukocytosis, Reticulocytosis, Unconjugat...	ORPHA:90038
Tracheobronchopathia Osteochondroplastica	Atelectasis, Bronchitis, Esophagitis, Recurrent pneumonia, Pneumonia, Recurrent respiratory infec...	ORPHA:3348
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Chylopericardium, Ascites, Pulmonic stenosis, Splenomegaly	ORPHA:2414
Immune Dysregulation, Autoimmunity, And Autoinflammation	Abnormal circulating C-reactive protein concentration, Anemia, Cervical lymphadenopathy, Inguinal...	OMIM:620514
Immunodeficiency 26 With Or Without Neurologic Abnormalities	B lymphocytopenia, Abnormal natural killer cell morphology, T lymphocytopenia	OMIM:615966
Osteopetrosis, Autosomal Recessive 8	Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly	OMIM:615085
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Increased circulating IgA level, Abnormal circulating IgG level, Increased ...	OMIM:300291
Boutonneuse Fever	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Thrombocytopenia, Leuko...	ORPHA:83313
Hereditary Cryohydrocytosis With Reduced Stomatin	Jaundice, Spontaneous hemolytic crises, Hepatosplenomegaly, Conjugated hyperbilirubinemia, Stomat...	ORPHA:168577
Fructose Intolerance, Hereditary	Bicarbonaturia, Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conc...	OMIM:229600
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Anemia, Elevated circulating creatine kinase concentration	OMIM:618838
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal ventriculoarterial connection, Hepatomegaly, Ventricular septal defect, Anomalous pulmon...	ORPHA:860
Mcleod Syndrome	Hepatomegaly, Reduced haptoglobin level, Cardiomyopathy, Elevated circulating creatine kinase con...	OMIM:300842
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Thrombocytopenia, Increased CD4:CD8 ratio, B lymphocytopenia	OMIM:618048
Ciliary Dyskinesia, Primary, 16	Chronic otitis media, Chronic sinusitis, Chronic rhinitis, Bronchiectasis	OMIM:614017
Mevalonic Aciduria	Fluctuating splenomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase conc...	OMIM:610377
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Enlarged kidney, Abnormal right ventricle morphology, Chronic neutropenia, Ventricular septal def...	ORPHA:500095
Cardiomyopathy, Familial Hypertrophic, 27	Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat...	OMIM:618052
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val...	OMIM:231005
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Lymphadenopathy, Decreased FOXP3-expressing T cell count, Thrombocytopenia, Coombs-positi...	OMIM:304790
Hermansky-Pudlak Syndrome 1	Abdominal pain, Colitis, Hematochezia, Inflammation of the large intestine	OMIM:203300
Congenital Erythropoietic Porphyria	Increased erythrocyte protoporphyrin concentration, Reduced haptoglobin level, Increased urinary ...	ORPHA:79277
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Jaundice, Hepatomegaly, Anemia, Abnormal natural killer cell count, Pancytopenia, Elevated circul...	ORPHA:79124
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Coach Syndrome 1	Cirrhosis, Hepatomegaly, Nephronophthisis, Unilateral renal agenesis, Elevated circulating hepati...	OMIM:216360
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Cirrhosis, Elevated circulating hepatic transaminase concentration, Sc...	ORPHA:562639
Neurooculocardiogenitourinary Syndrome	Patent foramen ovale, Bilateral cryptorchidism, Cardiomegaly, Atrial septal defect, Ventricular s...	OMIM:618652
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Jaundice, Renal insufficiency, Renal cyst, Bile duct proliferation, Polycystic liver disease, Nep...	OMIM:208500
Glycogen Storage Disease Ixc	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr...	OMIM:613027
Idiopathic Pulmonary Fibrosis	Abnormal pulmonary interstitial morphology, Reticular pattern on pulmonary HRCT, Honeycomb lung, ...	ORPHA:2032
Ciliary Dyskinesia, Primary, 7	Bronchiectasis, Recurrent pneumonia, Recurrent otitis media, Chronic rhinitis	OMIM:611884
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Bone marrow hypocellularity, Decreased circulating antibody level, Pulmonary fibrosis	OMIM:619767
Ciliary Dyskinesia, Primary, 13	Recurrent sinusitis, Recurrent bronchitis, Recurrent otitis media, Bronchiectasis	OMIM:613193
Ciliary Dyskinesia, Primary, 15	Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent respiratory infections, Ch...	OMIM:613808
Ciliary Dyskinesia, Primary, 12	Chronic otitis media, Chronic rhinitis, Bronchiectasis, Recurrent respiratory infections, Chronic...	OMIM:612650
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, ...	OMIM:614921
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
Polycythemia Vera	Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro...	OMIM:263300
Paroxysmal Nocturnal Hemoglobinuria	Abnormal erythrocyte enzyme concentration or activity, Reticulocytosis, Unconjugated hyperbilirub...	ORPHA:447
Pyruvate Carboxylase Deficiency	Hypertaurinemia, Elevated plasma citrulline, Hepatomegaly, Hypoglutaminemia, Hyperglutamatemia, I...	ORPHA:3008
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Enlarged kidney, Polycystic kidney dysplasia, Renal dysplasia, Ambiguous genitalia, Micropenis	OMIM:613091
Cryohydrocytosis	Reticulocytosis, Splenomegaly, Stomatocytosis, Hemolytic anemia, Pseudohyperkalemia	OMIM:185020
Long-Olsen-Distelmaier Syndrome	Elevated circulating alanine aminotransferase concentration, Hyperammonemia, Secundum atrial sept...	OMIM:620609
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Bronchiectasis, Chronic diarrhea, Recurrent pneumonia, Colitis	OMIM:301220
Drug Reaction With Eosinophilia And Systemic Symptoms	Myocarditis, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Renal insu...	ORPHA:139402
Pediatric Systemic Lupus Erythematosus	Hematuria, Lymphadenopathy, Abnormality of the urinary system, Lymphopenia, Ascites, Nephrotic sy...	ORPHA:93552
Renal Cysts And Diabetes Syndrome	Elevated circulating hepatic transaminase concentration, Multiple glomerular cysts, Abnormal rena...	OMIM:137920
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Elevated c...	OMIM:617713
Sézary Syndrome	Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly	ORPHA:3162
Immunodeficiency 17	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Abnormal B cell morpho...	OMIM:615607
Ciliary Dyskinesia, Primary, 19	Recurrent otitis media, Rhinitis, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory infe...	OMIM:614935
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy...	OMIM:619418
Ciliary Dyskinesia, Primary, 51	Bronchiectasis, Recurrent respiratory infections, Recurrent sinusitis, Chronic rhinitis	OMIM:620438
Spastic Paraplegia 29, Autosomal Dominant	Urinary incontinence, Urinary hesitancy, Urinary urgency, Nocturia, Neonatal hyperbilirubinemia	OMIM:609727
Infantile Liver Failure Syndrome 3	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Hep...	OMIM:618641
Elliptocytosis 3	Pyropoikilocytosis, Chronic hemolytic anemia, Intermittent jaundice, Elliptocytosis, Decreased me...	OMIM:617948
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ...	OMIM:616959
Bachmann-Bupp Syndrome	Hyperbilirubinemia, Cryptorchidism	OMIM:619075
Nephroblastoma	Nephroblastoma, Neoplasm of the liver, Hematuria, Lymphadenopathy	ORPHA:654
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Enterocolitis	OMIM:301108
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemic seizures, Unilateral renal agenesis, Hypocalcemia, Polycystic kidney dysplasia, Vesi...	ORPHA:2237
Subcorneal Pustular Dermatosis	Rheumatoid arthritis, Pustule, Increased circulating antibody level	ORPHA:48377
Thrombocythemia 1	Thrombocytosis, Splenomegaly	OMIM:187950
Mixed Connective Tissue Disease	Myocarditis, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Pericarditis, Leukopenia...	ORPHA:809
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Anemia, Splenomegaly	OMIM:618107
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy	OMIM:619183
Sneddon Syndrome	Decreased circulating total IgM	OMIM:182410
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Hyperbilirubinemia, Cholestasis	OMIM:609734
T-Cell Immunodeficiency With Thymic Aplasia	Chronic otitis media, Chronic oral candidiasis, Thyroiditis, Eczematoid dermatitis, Sinusitis, Re...	ORPHA:83471
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly	ORPHA:59303
Wilson Disease	Cirrhosis, Jaundice, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentratio...	ORPHA:905
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Lymphadenopathy, Lymphocytosis, Myeloproliferative disorder, Abnormality of the spl...	ORPHA:79456
Autosomal Dominant Spastic Paraplegia Type 29	Hyperbilirubinemia, Abnormality of the lower urinary tract	ORPHA:101009
Familial Partial Lipodystrophy, Dunnigan Type	Hypertriglyceridemia, Glomerulopathy, Hepatomegaly, Pancreatitis, Hypertrophic cardiomyopathy, Sp...	ORPHA:2348
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transam...	OMIM:617591
Good Syndrome	Decreased circulating antibody level, Sinusitis, Bronchiectasis, Recurrent skin infections, Recur...	ORPHA:169105
Refsum Disease, Classic	Cardiomegaly, Cardiomyopathy, Elevated circulating phytanic acid concentration, Abnormal renal ph...	OMIM:266500
Familial Thyroid Dyshormonogenesis	Prolonged neonatal jaundice, Abnormal circulating thyroglobulin concentration, Neonatal hyperbili...	ORPHA:95716
Lig4 Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Pancytopenia, Hypoplasia of penis, Leukocytosis, C...	ORPHA:99812
Surfactant Metabolism Dysfunction, Pulmonary, 2	Intraalveolar phospholipid accumulation, Nonspecific interstitial pneumonia, Intralobular septal ...	OMIM:610913
Pparg-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Pancreatitis, Hyperuricemia, Hypertrophic cardiomy...	ORPHA:79083
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Hypocalcemia, Pancreatic lymphangiectasis, Hypoproteinemia, Ascites, Cryptorchidism...	OMIM:235255
Elliptocytosis 2	Elliptocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis	OMIM:130600
Sitosterolemia 1	Chronic hemolytic anemia, Giant platelets, Anemia, Reduced haptoglobin level, Elevated circulatin...	OMIM:210250
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Hepatomegaly, Anemia, Elevated circulati...	ORPHA:79240
Trichothiodystrophy 6, Nonphotosensitive	Increased HbA2 hemoglobin, Decreased mean corpuscular volume	OMIM:616943
Sarcoidosis, Susceptibility To, 2	Pneumothorax, Abnormal pulmonary interstitial morphology, Emphysema, Pleural effusion, Elevated b...	OMIM:612387
Immunodeficiency 82 With Systemic Inflammation	Duodenal ulcer, Crohn's disease, Skin rash, Bowel irritability, Anorexia, Intractable diarrhea, A...	OMIM:619381
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly	OMIM:611490
Wolman Disease	Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Splenomegaly, Hepatic failure	ORPHA:75233
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hypertriglyceridemia, Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly, Increased circulating...	OMIM:618398
Melioidosis	Lung abscess, Prostatitis, Acute infectious pneumonia, Foot osteomyelitis, Parotitis, Respiratory...	ORPHA:31202
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Decreased circulating IgA level	OMIM:215250
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Hypersensitivity pneumonitis, Emphysema, Honeycomb lung, Respiratory tract infection, Bronchiecta...	ORPHA:79127
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hematuria, Unilateral renal dysplasia, Aplasia of the vagina, Aplasia of the uterus, Nephrotic sy...	OMIM:146255
Mayer-Rokitansky-Kuster-Hauser Syndrome	Abnormal female external genitalia morphology, Aplasia of the upper vagina, Hypoplasia of the ute...	OMIM:277000
Sandhoff Disease	Hepatomegaly, Urinary incontinence, Increased urinary N-acetylglucosamine-rich oligosaccharide le...	OMIM:268800
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insufficiency, Splen...	OMIM:612714
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr...	OMIM:133100
X-Linked Intellectual Disability, Nascimento Type	Hypospadias, Patent foramen ovale, Vesicoureteral reflux, Cryptorchidism, Mitral stenosis, Tetral...	ORPHA:163956
Mayer-Rokitansky-Küster-Hauser Syndrome	Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, Endometriosis, Aplasia of t...	ORPHA:3109
Chronic Bilirubin Encephalopathy	Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Hemolyt...	ORPHA:529808
Neonatal Alloimmune Neutropenia	Pneumonia	ORPHA:464370
Acute Bilirubin Encephalopathy	Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Hemolyt...	ORPHA:529799
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly, Oligosacchariduria	ORPHA:3137
Iga Pemphigus	Neutrophilic infiltration of the skin, Pustule, Cutaneous abscess, Ulcerative colitis	ORPHA:555905
Glycogen Storage Disease Ii	Hepatomegaly, Urinary incontinence, Increased circulating NT-proBNP concentration, Elevated circu...	OMIM:232300
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular septal hypertrophy, Hepatomegaly, Muscular ventricular septal defect, Ventricular hyp...	OMIM:115197
Johanson-Blizzard Syndrome	Clitoral hypertrophy, Ascites, Urethrovaginal fistula, Splenomegaly, Septate vagina, Intrahepatic...	OMIM:243800
Lymphatic Filariasis	Abnormality of the kidney, Lymphangiectasis, Hematuria, Lymphadenopathy, Urethral obstruction, Ab...	ORPHA:2035
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypospadias, Ascites, Hypertrophic cardiomyopathy, Hydronephrosis, Cardiomegaly, Ventricular sept...	OMIM:616897
Ciliary Dyskinesia, Primary, 14	Recurrent pneumonia, Otitis media, Bronchiectasis, Recurrent respiratory infections, Chronic sinu...	OMIM:613807
Simpson-Golabi-Behmel Syndrome, Type 1	Enlarged kidney, Hepatomegaly, Transposition of the great arteries, Hypospadias, Ventricular sept...	OMIM:312870
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Hemolytic anemia	ORPHA:169090
Ciliary Dyskinesia, Primary, 1	Chronic otitis media, Atelectasis, Recurrent bronchitis, Chronic rhinitis, Bronchiectasis, Pneumo...	OMIM:244400
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly, Abnormal concentration of acylcarnitin...	ORPHA:391428
Neurooculorenal Syndrome	Unilateral renal agenesis, Dextrocardia, Tetralogy of Fallot with pulmonary stenosis, Bilateral r...	OMIM:620305
Multiple Myeloma	Acute kidney injury, Anemia, Lymphadenopathy, Abnormality of the bladder, Nephrotic syndrome, Hyp...	ORPHA:29073
Syndromic Diarrhea	Bicuspid aortic valve, Cirrhosis, Hepatomegaly, Atrial septal defect, Abnormality of iron homeost...	ORPHA:84064
Combined Oxidative Phosphorylation Deficiency 51	Aspiration pneumonia	OMIM:619057
Pancreatic Triacylglycerol Lipase Deficiency	Abdominal distention, Steatorrhea, Diarrhea, Abdominal pain, Exocrine pancreatic insufficiency, K...	ORPHA:309031
Thrombocytopenia-Absent Radius Syndrome	Abnormality of the kidney, Aplasia of the uterus, Thrombocytopenia, Tetralogy of Fallot, Axial ma...	ORPHA:3320
Pseudo-Torch Syndrome 1	Decreased liver function, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conce...	OMIM:251290
Distal Xq28 Microduplication Syndrome	Patent foramen ovale, Neonatal hyperbilirubinemia	ORPHA:293939
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, B lymphocytopenia, Cardiomyopathy, Sideroblastic anemia, Nephrocal...	OMIM:616084
Mogs-Cdg	Hepatomegaly, External genital hypoplasia, Thrombocytopenia, Hepatosplenomegaly, Left ventricular...	ORPHA:79330
Ciliary Dyskinesia, Primary, 38	Chronic otitis media, Rhinitis, Chronic sinusitis, Bronchiectasis	OMIM:618063
Adams-Oliver Syndrome 5	Patent foramen ovale, Right atrial enlargement, Portal vein thrombosis, Pulmonic stenosis, Spleno...	OMIM:616028
Trichohepatoenteric Syndrome 1	Cholestasis, Pulmonic stenosis, Renal cortical microcysts, Splenomegaly, Jaundice, Hypospadias, I...	OMIM:222470
X-Linked Centronuclear Myopathy	Pneumonia, Recurrent respiratory infections	ORPHA:596
Renal And Mullerian Duct Hypoplasia	Aplasia of the uterus, Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney, ...	OMIM:266810
Autoimmune Lymphoproliferative Syndrome	Increased circulating antibody level, Bone marrow hypocellularity, Recurrent aphthous stomatitis,...	ORPHA:3261
Familial Pancreatic Carcinoma	Jaundice, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Peritoneal ab...	ORPHA:1333
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly	OMIM:617441
Immunodeficiency 59 And Hypoglycemia	Recurrent lower respiratory tract infections, Recurrent aphthous stomatitis, Arteritis, Herpes si...	OMIM:233600
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Recurrent aspiration pneumonia	OMIM:619971
Gaucher Disease, Type I	Hepatomegaly, Anemia, Pancytopenia, Aortic valve stenosis, Thrombocytopenia, Splenomegaly, Hypers...	OMIM:230800
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l...	ORPHA:98849
Amed Syndrome, Digenic	Anemia, Acute myeloid leukemia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia, Hypopl...	OMIM:619151
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Aspiration pneumonia	ORPHA:90117
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Anemia, Ascites, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, ...	OMIM:608013
Pulmonary Alveolar Proteinosis, Acquired	Lung abscess, Recurrent respiratory infections, Intraalveolar phospholipid accumulation, Pneumonia	OMIM:610910
Klatskin Tumor	Jaundice, Hepatomegaly, Lymphadenopathy, Cholangiocarcinoma, Extrahepatic cholestasis	ORPHA:99978
Primary Intestinal Lymphangiectasia	Decreased circulating antibody level, Pleural effusion, Decreased circulating IgG level, Decrease...	ORPHA:90362
Helsmoortel-Van Der Aa Syndrome	Enlarged kidney, Recurrent urinary tract infections, Enuresis nocturna, Abnormal heart morphology...	OMIM:615873
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Urachus fistula, Hepatomegaly, Anemia, Erythroid hypoplasia, Recurrent urinary tract infections, ...	OMIM:612541
Prolidase Deficiency	Hepatomegaly, Anemia, Hyperimidodipeptiduria, Prolonged neonatal jaundice, Thrombocytopenia, Sple...	OMIM:170100
Leydig Cell Hypoplasia	Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Hypoplasia of the Leydi...	ORPHA:755
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased total ...	ORPHA:309854
Arterial Calcification, Generalized, Of Infancy, 2	Cardiomegaly, Nephrocalcinosis, Hypophosphatemic rickets, Right atrial enlargement	OMIM:614473
Wiskott-Aldrich Syndrome	Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Abnormal delayed h...	OMIM:301000
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Splenomegaly, Heparan sulfate excretion in urine, Asymmetric septal hypertrophy	OMIM:252900
Infant Acute Respiratory Distress Syndrome	Pneumonia, Pulmonary edema, Respiratory tract infection, Atelectasis	ORPHA:70587
Sandifer Syndrome	Hematemesis, Episodic vomiting, Gastroesophageal reflux, Esophagitis, Feeding difficulties, Hiatu...	ORPHA:71272
Timothy Syndrome	Hypocalcemia, Patent foramen ovale, Tetralogy of Fallot, Cardiomegaly, Ventricular septal defect	OMIM:601005
Kindler Epidermolysis Bullosa	Cheilitis, Periodontitis, Abnormality of the anus, Esophagitis, Inflammation of the large intesti...	ORPHA:2908
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Anemia, Splenomegaly	OMIM:620296
Pgm3-Cdg	Chronic otitis media, Increased circulating IgG level, Increased circulating IgE level, Increased...	ORPHA:443811
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Hypogonadism, Neonatal hyperbilirubinemia	ORPHA:73272
Chediak-Higashi Syndrome	Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Leukopenia, Splenomegaly, Impa...	OMIM:214500
Acute Monoblastic/Monocytic Leukemia	Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochromic anemia, Oliguria, Cerv...	ORPHA:514
Kikuchi-Fujimoto Disease	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Elevated circ...	ORPHA:50918
Budd-Chiari Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ascit...	ORPHA:131
Poems Syndrome	Hepatomegaly, Lymphadenopathy, Visceromegaly, Ascites, Pericardial effusion, Polycythemia, Spleno...	ORPHA:2905
Immunodeficiency 110 With Lymphoproliferation	Recurrent aphthous stomatitis, Recurrent lower respiratory tract infections, Chronic mucocutaneou...	OMIM:614868
Tangier Disease	Hypertriglyceridemia, Anemia, Chronic noninfectious lymphadenopathy, Coronary artery stenosis, Or...	ORPHA:31150
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Chronic oral candidiasis, Decreased circulating total IgG, Arthritis, Decreased circulating total...	ORPHA:221139
Ciliary Dyskinesia, Primary, 22	Recurrent otitis media, Rhinitis, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory infe...	OMIM:615444
Ciliary Dyskinesia, Primary, 30	Recurrent otitis media, Bronchiectasis, Recurrent respiratory infections, Chronic sinusitis, Chro...	OMIM:616037
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Increased circulating chylomicron concentration...	OMIM:207750
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Skin rash, Bloody diarrhea, Blepharitis, Inflammation of the large intestine, Recurrent pneumonia...	OMIM:617718
Congenital Tricuspid Valve Dysplasia	Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram...	ORPHA:555874
Pearson Syndrome	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Reticulocytosis, Bone ma...	ORPHA:699
Rajab Interstitial Lung Disease With Brain Calcifications 1	Decreased liver function, Cirrhosis, Anemia, Elevated circulating hepatic transaminase concentrat...	OMIM:613658
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, P...	OMIM:615688
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Reduced renal corticomedullary differentiation, Hepatomegaly, Splenomegaly	OMIM:618541
Immunodeficiency 47	Normocytic anemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentrati...	OMIM:300972
Brucellosis	Myocarditis, Liver abscess, Anemia, Hepatomegaly, Lymphadenopathy, Abnormal aortic valve morpholo...	ORPHA:1304
Hyperlipoproteinemia, Type Id	Colitis, Pancreatitis, Recurrent pancreatitis	OMIM:615947
Acute Interstitial Pneumonia	Reduced hematocrit, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Peric...	ORPHA:79126
Fixed Subaortic Stenosis	Bicuspid aortic valve, Atrioventricular canal defect, Bacterial endocarditis, Pulmonic stenosis, ...	ORPHA:3092
Kaposi Sarcoma	Abnormality of the liver, Generalized lymphadenopathy, Abnormality of the spleen	ORPHA:33276
Congenital Disorder Of Glycosylation, Type Ig	Decreased circulating IgG level, Recurrent pneumonia, Recurrent upper respiratory tract infection...	OMIM:607143
Yellow Fever	Acute kidney injury, Jaundice, Hyperbilirubinemia, Anuria, Acute pancreatitis, Leukocytosis, Elev...	ORPHA:99829
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Lymphadenopathy	ORPHA:411703
Fucosidosis	Mucopolysacchariduria, Abnormality of the gallbladder, Cardiomegaly, Hepatomegaly	ORPHA:349
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Ectopic kidney, Unilateral renal agenesis, Azoospermia, Bicornuate uterus, Renal agenesis, Hypopl...	OMIM:601076
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Mohr-Tranebjaerg Syndrome	Agammaglobulinemia, Aspiration pneumonia	ORPHA:52368
Reactive Arthritis	Recurrent aphthous stomatitis, Diarrhea, Abdominal pain, Arthritis, Pericarditis, Pustule, Inflam...	ORPHA:29207
Immunodeficiency 23	Increased circulating IgG level, Chronic mucocutaneous candidiasis, Increased circulating IgE lev...	OMIM:615816
8P11.2 Deletion Syndrome	Hypoplasia of penis, Azoospermia, Spherocytosis, Splenomegaly, Mitral valve prolapse, Hypogonadis...	ORPHA:251066
Osteopetrosis, Autosomal Recessive 7	Decreased circulating total IgM, Recurrent pneumonia, Decreased circulating IgG level, Decreased ...	OMIM:612301
Chédiak-Higashi Syndrome	Decreased liver function, Hypertriglyceridemia, Elevated circulating hepatic transaminase concent...	ORPHA:167
Oculoskeletodental Syndrome	Hepatomegaly, Hypercalciuria, Hypocalcemia, Mucopolysacchariduria, Renal agenesis, Hypercalcemia,...	OMIM:618440
Cantu Syndrome	Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle	OMIM:239850
Lipodystrophy, Congenital Generalized, Type 2	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr...	OMIM:269700
Familial Mediterranean Fever	Hepatomegaly, Elevated circulating C-reactive protein concentration, Leukocytosis, Nephrotic synd...	OMIM:249100
Majeed Syndrome	Glomerulopathy, Hepatomegaly, Hypochromic microcytic anemia, Leukocytosis, Microscopic hematuria,...	ORPHA:77297
Hereditary Orotic Aciduria	Oroticaciduria, Anemia, Abnormality of the ureter, Orotic acid crystalluria, Splenomegaly, Aminoa...	ORPHA:30
Fusariosis	Lung abscess, Hypersensitivity pneumonitis, Panniculitis, Maculopapular exanthema, Myositis, Arth...	ORPHA:228119
46,Xy Sex Reversal 11	Abnormal internal genitalia, Urogenital sinus anomaly, Aplasia of the uterus, Vanishing testis, G...	OMIM:273250
Hyperparathyroidism, Neonatal Severe	Polyuria, Calcinosis, Hepatomegaly, Anemia, Hypercalciuria, Hyperphosphaturia, Hypercalcemia, Spl...	OMIM:239200
Acquired Hypertrichosis Lanuginosa	Ovarian neoplasm, Lymphadenopathy	ORPHA:2221
Bloom Syndrome	Cheilitis, Bronchitis, Skin rash, Decreased circulating antibody level, Decreased circulating IgG...	ORPHA:125
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Familial Mediterranean Fever	Pancreatitis, Lymphadenopathy, Leukocytosis, Ascites, Nephrotic syndrome, Pericarditis, Nephrocal...	ORPHA:342
Thymic Neuroendocrine Tumor	Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Neoplasm of the thymus, Chronic nonin...	ORPHA:97289
Sepsis In Premature Infants	Decreased liver function, Abdominal distention, Diarrhea, Functional abnormality of the gastroint...	ORPHA:90051
Acute Promyelocytic Leukemia	Anemia, Lymphadenopathy, Hematuria, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Neu...	ORPHA:520
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Abnormal atrioventricular valve morphology, Aortic valve stenosis, Mitral valve prolapse, Cardiom...	ORPHA:324410
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Elliptocytosis 1	Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia	OMIM:611804
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Bronchiectasis, Recurrent respiratory infections, Recurrent sinusitis	OMIM:620197
46,Xy Sex Reversal 4	Gonadal dysgenesis, Hypoplastic labia majora, Hypergonadotropic hypogonadism, Increased blood ure...	OMIM:154230
Staphylococcal Necrotizing Pneumonia	Pneumothorax, Pulmonary pneumatocele, Acute infectious pneumonia, Pleural empyema, Pleural effusi...	ORPHA:36238
Immunodeficiency 87 And Autoimmunity	Hypertriglyceridemia, Cholestasis, Ascites, Lymphopenia, Decreased CD4:CD8 ratio, Hepatic steatos...	OMIM:619573
Lymphangioleiomyomatosis	Renal neoplasm, Hematuria, Lymphadenopathy, Chylopericardium, Abnormality of the lymphatic system...	ORPHA:538
Immunodeficiency 65, Susceptibility To Viral Infections	Stomatitis, Bronchiectasis	OMIM:618648
Infection-Related Hemolytic Uremic Syndrome	Myocarditis, Gastrointestinal infarctions, Pancreatitis, Acute colitis, Abdominal pain, Diarrhea,...	ORPHA:544482
Bronchogenic Cyst	Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Pneumonia, Pulmonary cyst	ORPHA:2357
Exstrophy-Epispadias Complex	Urinary incontinence, Bifid penis, Bifid scrotum, Bladder fistula, Bladder duplication, Abnormal ...	ORPHA:322
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Recurrent aspiration pneumonia	ORPHA:2590
Rasmussen Subacute Encephalitis	Decreased circulating total IgA	ORPHA:1929
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal...	OMIM:607626
Ataxia-Telangiectasia	Recurrent lower respiratory tract infections, Recurrent bronchitis, Sinusitis, Decreased circulat...	OMIM:208900
Autosomal Dominant Severe Congenital Neutropenia	Recurrent aphthous stomatitis, Periodontitis, Rhinitis, Recurrent sinopulmonary infections, Pneum...	ORPHA:486
Aregenerative Anemia	Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,...	ORPHA:101096
Pagod Syndrome	Situs inversus totalis, Renal hypoplasia/aplasia, Abnormal testis morphology, Female pseudohermap...	ORPHA:991
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Splenic cyst, Increased circulating thyroglobulin concentration, Polycystic kidney ...	OMIM:610199
Idiopathic Hypereosinophilic Syndrome	Abdominal distention, Pancreatitis, Cholangitis, Chronic diarrhea, Abdominal pain, Arthritis, Ecz...	ORPHA:3260
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Diarrhea, Thyroiditis, Chronic mucocutaneous candidiasis, Abnormal intestine morphology, Eczemato...	ORPHA:391487
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormality of neutrophils, Renal...	ORPHA:33226
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia, Splenomegaly, Abnormal urinary...	ORPHA:90033
Hyper-Igd Syndrome	Lymphadenopathy, Leukocytosis, Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Splenomegaly, Ele...	OMIM:260920
Acute Generalized Exanthematous Pustulosis	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Cholestasis, Leukocytos...	ORPHA:293173
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Perianal abscess, Defective T cell proliferation, Pancolitis, Increased circulating IgG level, In...	OMIM:618213
Proteus Syndrome	Enlarged kidney, Ovarian neoplasm, Long penis, Testicular neoplasm, Neoplasm of the thymus, Renal...	ORPHA:744
Gaucher Disease Type 3	Hepatomegaly, Anemia, Hematuria, Pancytopenia, Abnormal heart valve morphology, Aortic valve calc...	ORPHA:77261
Myelofibrosis	Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop...	OMIM:254450
Plague	Hematemesis, Anorexia, Carbuncle, Inflammatory abnormality of the eye, Acute infectious pneumonia...	ORPHA:707
Lipodystrophy, Congenital Generalized, Type 1	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr...	OMIM:608594
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Muscular ventricular septal defect, Polycystic kidney dysplasia, Patent foramen ovale, Hyperbilir...	OMIM:210710
Ileal Neuroendocrine Tumor	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Iron deficiency anemia,...	ORPHA:100078
Sweet Syndrome	Panniculitis, Myositis, Predominantly dermal neutrophilic infiltrate, Inflammation of the large i...	ORPHA:3243
Partial Androgen Insensitivity Syndrome	Blind vagina, Clitoral hypertrophy, Hypospadias, Azoospermia, Aplasia of the uterus, Urogenital s...	ORPHA:90797
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating alanine am...	ORPHA:308552
Congenital Syphilis	Myocarditis, Pancreatitis, Anemia, Lymphadenopathy, Nephrotic syndrome, Prolonged neonatal jaundi...	ORPHA:499009
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Thrombocytopenia-Absent Radius Syndrome	Renal malrotation, Atrial septal defect, Ureteral duplication, Anemia, Atrioventricular canal def...	OMIM:274000
Coronary Arterial Fistula	Bicuspid aortic valve, Atrial septal defect, Bacterial endocarditis, Patent foramen ovale, Aortic...	ORPHA:2041
Slc35A1-Cdg	Pneumonia, Pulmonary hemorrhage	ORPHA:238459
Hemophagocytic Syndrome Associated With An Infection	Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count,...	ORPHA:158048
Thymoma	Myositis, Rheumatoid arthritis, Neoplasm of the gastrointestinal tract, Ulcerative colitis, Glome...	ORPHA:99867
Postinfectious Vasculitis	Gastrointestinal inflammation, Increased circulating antibody level, Bacterial endocarditis, Arth...	ORPHA:48435
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, 3-Methylglutaconic aciduria, Cardiomyopathy, Increased hepatic glycogen content	OMIM:619259
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233710
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Rectovaginal fistula, Inflammation of the large intestine, Dysphagia, Bronchiectasis, Intestinal ...	OMIM:619708
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymp...	ORPHA:100080
46,Xy Sex Reversal 3	Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la...	OMIM:612965
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Anemia, B lymphocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Leukopenia, Thrombocyt...	ORPHA:508542
Chromosome 17Q12 Deletion Syndrome	Elevated circulating hepatic transaminase concentration, Unilateral renal agenesis, Aplasia of th...	OMIM:614527
Neuroblastoma	Elevated urinary catecholamine level, Anemia, Lymphadenopathy, Elevated urinary vanillylmandelic ...	ORPHA:635
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Jaundice, Hematuria, Hypospadias, Elevated circulating hepatic transaminase concentration, Abnorm...	OMIM:619475
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Recurrent otitis media, Recurrent pharyngitis, Recurrent bronchitis, Decreased circulating antibo...	ORPHA:293978
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Renal salt wasting, Hyperkalemia, Ambiguous genitalia, male, Clitoral hypertrophy, Female externa...	ORPHA:168558
Bloom Syndrome	Malar rash, Decreased circulating IgG level, Recurrent upper respiratory tract infections, Bronch...	OMIM:210900
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233690
Transcobalamin Ii Deficiency	Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level	OMIM:275350
Meckel Syndrome 14	Polycystic kidney dysplasia, Aplasia of the uterus, Ambiguous genitalia, Hepatic fibrosis, Single...	OMIM:619879
Fucosidosis	Hepatomegaly, Vacuolated lymphocytes, Glycopeptiduria, Splenomegaly, Cardiomegaly, Oligosaccharid...	OMIM:230000
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Farber Disease	Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, Intrahepatic ch...	ORPHA:333
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Renal salt wasting, Hyperkalemia, Ambiguous genitalia, male, Clitoral hypertrophy, Female externa...	ORPHA:289548
Cleft Velum	Recurrent otitis media, Aspiration pneumonia	ORPHA:99772
Lethal Congenital Contracture Syndrome 10	Cardiomegaly, Overriding aorta, Ventricular septal defect, Hypoplasia of the thymus	OMIM:617022
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Pneumonia	OMIM:608033
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Patent foramen ovale, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice, Right ventric...	OMIM:620186
Ciliary Dyskinesia, Primary, 2	Sinusitis, Recurrent respiratory infections, Otitis media, Bronchiectasis	OMIM:606763
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Mediastinal lymphadenopathy, Hilar lymph node enlargement, Cholestasis, Leukocytosi...	OMIM:620233
Dyskeratosis Congenita, Digenic	Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level	OMIM:620040
Cocaine Intoxication	Gastrointestinal infarctions, Abdominal pain, Intestinal perforation, Bloody diarrhea, Vomiting, ...	ORPHA:90068
Microsporidiosis	Myocarditis, Prostatitis, Pancreatitis, Cholangitis, Myositis, Bronchitis, Thyroiditis, Keratocon...	ORPHA:2552
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukocytosis, Pericarditi...	ORPHA:32960
Hyperlipoproteinemia, Type I	Lactescent serum, Jaundice, Increased circulating chylomicron concentration, Acute pancreatitis, ...	OMIM:238600
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Pancreatitis, Vacuolated lymphocytes, Renal artery atherosclerosis, Cardiomyopathy,...	ORPHA:565612
Neutral Lipid Storage Disease With Myopathy	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chro...	OMIM:610717
Hennekam Syndrome	Lymphadenopathy, Ectopic kidney, Hypocalcemia, Ascites, Pericardial effusion, Lymphangioma, Splen...	ORPHA:2136
Bacterial Toxic-Shock Syndrome	Myocarditis, Myositis, Arthritis, Skin rash, Hepatitis, Sinusitis, Respiratory tract infection, S...	ORPHA:36234
Triosephosphate Isomerase Deficiency	Normocytic anemia, Jaundice, Chronic hemolytic anemia, Normochromic anemia, Macrocytic anemia, Ch...	OMIM:615512
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424019
Isolated Thyroid-Stimulating Hormone Deficiency	Abnormal circulating thyroglobulin concentration, Prolonged neonatal jaundice, Neonatal hyperbili...	ORPHA:90674
Complete Androgen Insensitivity Syndrome	Blind vagina, Female external genitalia in individual with 46,XY karyotype, Testicular neoplasm, ...	ORPHA:99429
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va...	ORPHA:168563
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hashimoto thyroiditis, Recurrent respiratory infections, Decreased circulating IgA level, Hepatitis	OMIM:613385
Microcephaly 20, Primary, Autosomal Recessive	Bilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Hyperechogenic kidneys, Vaginal at...	OMIM:617914
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Neurodegeneration And Seizures Due To Copper Transport Defect	Glandular hypospadias, Abnormal circulating ceruloplasmin concentration, Abnormal circulating cop...	OMIM:620306
Carcinoid Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Hepatic necrosis, Elevated circula...	ORPHA:100093
Congenital Disorder Of Glycosylation, Type Iib	Decreased circulating antibody level, Decreased circulating IgA level	OMIM:606056
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,...	ORPHA:439
Porphyria Due To Ala Dehydratase Deficiency	Depression, Agitation, Abnormal fear-induced behavior, Restlessness	ORPHA:100924
Lysinuric Protein Intolerance	Hepatomegaly, Pancreatitis, Hemophagocytosis, Anemia, Oroticaciduria, Hyperammonemia, Leukopenia,...	OMIM:222700
Coccidioidomycosis	Abnormality of the kidney, Abnormality of the female genitalia, Mediastinal lymphadenopathy, Panc...	ORPHA:228123
Meige Disease	Absence of lymph node germinal center, Lymph node hypoplasia	ORPHA:90186
Orofaciodigital Syndrome Viii	Recurrent aspiration pneumonia	OMIM:300484
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Lymphadenopathy, Peritonitis	ORPHA:343
Surfactant Metabolism Dysfunction, Pulmonary, 3	Reticular pattern on pulmonary HRCT, Paraseptal emphysema, Honeycomb lung, Intraalveolar phosphol...	OMIM:610921
Primary Sclerosing Cholangitis	Elevated circulating hepatic transaminase concentration, Cholestasis, Ascites, Acute hepatic fail...	ORPHA:171
Chronic Granulomatous Disease	Liver abscess, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly, Abnormality of neutrophils	ORPHA:379
Okamoto Syndrome	Urinary incontinence, Abnormal left ventricle morphology, Primum atrial septal defect, Aortic val...	ORPHA:2729
Congenital Factor Xiii Deficiency	Inflammation of the large intestine, Hepatic failure	ORPHA:331
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased liver function, Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Abnormal circulating lip...	ORPHA:77293
Myotonic Dystrophy 2	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:602668
46,Xx Ovotesticular Difference Of Sex Development	Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r...	ORPHA:2138
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Calcinosis, Hypokalemia, Hypocalcemia, Renal artery stenosis, Renal hypoplasia, Hyponatremia, Nep...	OMIM:617913
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo...	ORPHA:90793
Smith-Kingsmore Syndrome	Decreased circulating IgA level	OMIM:616638
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly	OMIM:613320
Aicardi-Goutieres Syndrome 7	Increased circulating ferritin concentration, Hepatomegaly, Anemia, Pancytopenia, Hypertrophic ca...	OMIM:615846
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration,...	OMIM:620565
Hypothyroidism Due To Tsh Receptor Mutations	Increased circulating thyroglobulin concentration, Prolonged neonatal jaundice, Neonatal hyperbil...	ORPHA:90673
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymp...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymp...	ORPHA:100082
Mullerian Aplasia And Hyperandrogenism	Unilateral renal agenesis, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the ute...	OMIM:158330
Oculopharyngodistal Myopathy	Recurrent aspiration pneumonia	ORPHA:98897
Periodic Fever, Familial, Autosomal Dominant	Hepatic amyloidosis, Hepatomegaly, Cervical lymphadenopathy	OMIM:142680
Lumbar Syndrome	Hypospadias, Vesicoureteral reflux, Bifid scrotum, Renal agenesis, Renal duplication, Bifid uteru...	ORPHA:83628
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Biliary tract obstruction,...	ORPHA:100085
Sting-Associated Vasculopathy, Infantile-Onset	Anemia, Elevated circulating C-reactive protein concentration, Paratracheal lymphadenopathy, Leuk...	OMIM:615934
Bronchial Neuroendocrine Tumor	Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, He...	ORPHA:97287
Beck-Fahrner Syndrome	Cardiomegaly, Ventricular septal defect	OMIM:618798
Hereditary Pulmonary Alveolar Proteinosis	Acute infectious pneumonia, Crazy paving pattern	ORPHA:264675
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A...	ORPHA:86843
Avian Influenza	Pneumothorax, Myelitis, Pleural effusion, Conjunctivitis, Pneumonia, Hepatitis, Infectious enceph...	ORPHA:454836
Mucopolysaccharidosis Type 3	Hepatomegaly, Abnormal aortic valve morphology, Recurrent tonsillitis, Mucopolysacchariduria, Abn...	ORPHA:581
Lissencephaly Due To Lis1 Mutation	Neonatal hyperbilirubinemia	ORPHA:95232
Fanconi Anemia, Complementation Group L	Anemia, Unilateral renal agenesis, Aplasia of the uterus, Bone marrow hypocellularity, Renal hypo...	OMIM:614083
Neuroendocrine Tumor Of Stomach	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Iron deficiency anemia, Ch...	ORPHA:100075
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology, Lymphadenopathy	ORPHA:1332
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form	Esophagitis, Gastroesophageal reflux, Feeding difficulties	ORPHA:79350
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Abnormal heart valve morphology, Aortic valve stenosis, Pericardial effusi...	ORPHA:363705
Granulomatous Disease, Chronic, X-Linked	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Ascites, Splenomegaly, Impaired oxid...	OMIM:306400
Danon Disease	Myocardial necrosis, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopa...	OMIM:300257
Sarcoidosis	Decreased liver function, Abnormal liver parenchyma morphology, Hepatomegaly, Anemia, Lymphadenop...	ORPHA:797
Complete Atrioventricular Septal Defect	Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul...	ORPHA:1329
Meconium Aspiration Syndrome	Pneumothorax, Atelectasis, Aspiration pneumonia	ORPHA:70588
Meckel Syndrome 12	Bilateral renal agenesis, Ureteral hypoplasia, Renal hypoplasia, Vaginal atresia, Hypoplasia of t...	OMIM:616258
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomegaly, Urinary incontinence, Cardiomyopathy	OMIM:105210
Severe Acute Respiratory Syndrome	Acute infectious pneumonia	ORPHA:140896
Sarcoidosis, Susceptibility To, 1	Abnormal pulmonary interstitial morphology, Emphysema, Increased circulating antibody level, Arth...	OMIM:181000
Wiskott-Aldrich Syndrome	Chronic otitis media, Hematemesis, Chronic diarrhea, Arthritis, Eczematoid dermatitis, Sinusitis,...	ORPHA:906
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Hypospadias, Abnormal reproductive system morphology, Abnormal testis m...	ORPHA:1916
Mitochondrial Complex I Deficiency, Nuclear Type 33	Bronchiectasis, Aspiration pneumonia	OMIM:618253
Gaucher Disease	Decreased HDL cholesterol concentration, Leukopenia, Splenomegaly, Pancytopenia, Splenic infarcti...	ORPHA:355
Gm2 Gangliosidosis, Ab Variant	Inappropriate behavior, Abnormal fear-induced behavior	ORPHA:309246
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Nocardiosis	Pneumothorax, Scleritis, Emphysema, Pleuritis, Thyroiditis, Pleural effusion, Lymphadenitis, Peri...	ORPHA:31204
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypoplasia of the ovary, Decreased testicular size, Micropenis, Cryptorchidism, Hypoplasia of the...	OMIM:614841
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Nephroblastoma, Renal hypoplasia, Splenomegaly	OMIM:612918
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Spontaneous neonatal pneumothorax, Abnormal pulmonary interstitial morphology, Intraalveolar phos...	ORPHA:217563
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Decreased circulating IgA level	ORPHA:457485
Melkersson-Rosenthal Syndrome	Oligosacchariduria, Lymphadenopathy	ORPHA:2483
Aorta Coarctation	Bicuspid aortic valve, Perimembranous ventricular septal defect, Abnormal left ventricular outflo...	ORPHA:1457
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Increased proportion of C...	OMIM:617099
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly, Abnormal thymus morphology	ORPHA:2463
Proteasome-Associated Autoinflammatory Syndrome 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Elevated circulating...	OMIM:256040
Marburg Hemorrhagic Fever	Jaundice, Pancreatitis, Lymphadenopathy, Elevated circulating hepatic transaminase concentration,...	ORPHA:99826
Cystinosis, Nephropathic	Generalized aminoaciduria, Splenomegaly, Hypophosphatemia, Stage 5 chronic kidney disease, Reduce...	OMIM:219800
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Cardiomegaly, Pollakisuria, Elevated circulating creatine kinase concentration, Right ventricular...	ORPHA:268
Porphyria, Congenital Erythropoietic	Jaundice, Hepatomegaly, Red urine, Cholelithiasis, Elevated circulating uroporphyrin concentratio...	OMIM:263700
Familial Tumoral Calcinosis	Hepatomegaly, Nephrocalcinosis, Splenomegaly	ORPHA:53715
Arterial Calcification, Generalized, Of Infancy, 1	Cardiomegaly, Dilated cardiomyopathy, Hypophosphatemic rickets, Renal artery stenosis	OMIM:208000
Secondary Intestinal Lymphangiectasia	Decreased circulating antibody level, Pleural effusion, Decreased circulating IgG1 level, Decreas...	ORPHA:90363
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Stomatocytosis, Hemolytic anemia	OMIM:153670
Roifman-Chitayat Syndrome	Pneumonia, Arthritis	OMIM:613328
Celiac Disease, Susceptibility To, 1	Recurrent aphthous stomatitis, Stomatitis, Thyroiditis, Eczematoid dermatitis, Decreased circulat...	OMIM:212750
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Anemia, Lymphadenopathy, Hypocalcemia, Splenomegaly, Hypophosphatemia, Abnormal pul...	ORPHA:667
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Oeis Complex	Epispadias, Ambiguous genitalia, male, Hydroureter, Duplicated collecting system, Vesicovaginal f...	OMIM:258040
Immunodeficiency 31C	Autoimmune hemolytic anemia, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglut...	OMIM:614162
Crimean-Congo Hemorrhagic Fever	Ascites, Leukopenia, Splenomegaly, Cholecystitis, Myocarditis, Jaundice, Pancytopenia, Neutrophil...	ORPHA:99827
Juvenile Neuronal Ceroid Lipofuscinosis	Aspiration pneumonia	ORPHA:79264
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypoplasia of the uterus, Azoospermia, Decreased testicular size, Cryptorchidism, Micropenis, Hyp...	OMIM:614837
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Pneumonia	OMIM:253700
Spondyloepimetaphyseal Dysplasia, Krakow Type	Decreased circulating total IgM, Allergic rhinitis, Eczematoid dermatitis	OMIM:618162
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly, Abnormal number of alpha granules	OMIM:139090
Hereditary Hyperekplexia	Gastroesophageal reflux, Esophagitis, Hiatus hernia	ORPHA:3197
Thyroid Lymphoma	Lymphadenopathy	ORPHA:97285
Meckel Syndrome, Type 1	Ambiguous genitalia, male, External genital hypoplasia, Accessory spleen, Polycystic kidney dyspl...	OMIM:249000
Kawasaki Disease	Myocarditis, Cervical lymphadenopathy, Jaundice, Elevated circulating C-reactive protein concentr...	ORPHA:2331
Lipodystrophy, Congenital Generalized, Type 4	Recurrent pneumonia, Decreased circulating IgA level	OMIM:613327
Developmental And Epileptic Encephalopathy 95	Cardiomegaly, Hepatomegaly, Cryptorchidism	OMIM:618143
Insulin-Resistance Syndrome Type B	Increased circulating IgG level, Skin rash, Increased circulating IgA level, Decreased circulatin...	ORPHA:2298
Glycogen Storage Disease Ic	Chronic pancreatitis, Stomatitis, Hepatocellular carcinoma, Inflammation of the large intestine, ...	OMIM:232240
Anaplastic Thyroid Carcinoma	Lymphadenopathy	ORPHA:142
Leukocyte Adhesion Deficiency	Perianal abscess, Chronic oral candidiasis, Vaginitis, Severe periodontitis, Recurrent aphthous s...	ORPHA:2968
Alpha-1-Antitrypsin Deficiency	Panniculitis, Emphysema, Bronchitis, Bronchiectasis, Hepatitis	ORPHA:60
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Increased circulating IgE level, Decreased circulating antibody level, Decreased circulating IgG ...	ORPHA:508533
Hereditary Bullous Dystrophy, Macular Type	Pneumonia	ORPHA:1867
Hydatidiform Mole	Anemia, Enlarged uterus	ORPHA:99927
Congenital Disorder Of Glycosylation, Type Iiw	Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Elevated circulati...	OMIM:619525
Primary Sjögren Syndrome	Abnormality of the kidney, Normocytic anemia, Vaginal dryness, Lymphadenopathy, Normochromic anem...	ORPHA:289390
Histiocytoid Cardiomyopathy	Hepatomegaly, Renal cyst, Cardiomegaly, Polycystic ovaries, Ventricular septal defect	ORPHA:137675
Congenital Disorder Of Glycosylation, Type Iim	Atrial septal defect, Ureteropelvic junction obstruction, Neonatal hyperbilirubinemia, Vesicovagi...	OMIM:300896
Pituitary Hormone Deficiency, Combined, 6	Hyperbilirubinemia	OMIM:613986
Pulmonary Capillary Hemangiomatosis	Pericardial effusion, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Behçet Disease	Glomerulopathy, Pancreatitis, Lymphadenopathy, Pericarditis, Endocarditis, Splenomegaly, Abnormal...	ORPHA:117
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Pancreatitis, Splenic cyst, Patent foramen ovale, Hepatic sinusoidal dilatation, Cardiomegaly, Cr...	OMIM:620371
Double Outlet Left Ventricle	Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv...	ORPHA:3427
Gallbladder Neuroendocrine Tumor	Biliary tract obstruction, Intermittent jaundice, Chronic noninfectious lymphadenopathy, Ascites,...	ORPHA:100086
Malakoplakia	Prostate neoplasm, Hematuria, Dysuria, Urinary hesitancy, Urinary urgency, Proteinuria, Orchitis,...	ORPHA:556
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Cryptorchidism, Precocious puberty, Cardiomegaly, Ventricular septal defect, Labial...	ORPHA:96191
Congenital Multicore Myopathy With External Ophthalmoplegia	Pneumonia, Recurrent respiratory infections	ORPHA:98905
Hydrolethalus Syndrome 1	Hypospadias, Accessory spleen, Abnormal vagina morphology, Hydronephrosis, Bifid uterus, Ventricu...	OMIM:236680
Aicardi-Goutières Syndrome	Elevated circulating hepatic transaminase concentration, Chronic lymphatic leukemia, Neonatal all...	ORPHA:51
Naxos Disease	Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h...	OMIM:601214
Sporadic Creutzfeldt-Jakob Disease	Recurrent aspiration pneumonia	ORPHA:204
Pancreatoblastoma	Jaundice, Abnormal lymph node morphology, Pancreatic calcification	ORPHA:677
Myoectodermal Gonadal Dysgenesis Syndrome	Gonadal dysgenesis, Unilateral renal agenesis, Accessory spleen, Clitoral hypoplasia, Hypoplasia ...	OMIM:618419
Igg4-Related Submandibular Gland Disease	Abnormality of the kidney, Prostatitis, Cholangitis, Abnormal pancreas morphology, Lymphadenopath...	ORPHA:449432
Leptospirosis	Acute kidney injury, Jaundice, Hepatomegaly, Lymphadenopathy, Cellular urinary casts, Pericarditi...	ORPHA:509
Blau Syndrome	Anemia, Lymphadenopathy, Pericarditis, Clear cell renal cell carcinoma, Splenomegaly, Abnormality...	ORPHA:90340
Cantú Syndrome	Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy	ORPHA:1517
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphadenopathy, Tubulointerstitial fibrosis, T lymphocytopenia, Lymphopenia, Autoimmune thromboc...	OMIM:607944
Mucoepithelial Dysplasia, Hereditary	Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Recurrent pneumonia, Pneumonia, Fibrocys...	OMIM:158310
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hydrometrocolpos, Atrioventricular canal defect, Hepatomegaly, Splenomegaly, Vaginal atresia, Hor...	OMIM:617088
Frontometaphyseal Dysplasia 2	Gastroesophageal reflux, High palate, Pyloric stenosis, Bifid uvula, Cleft palate, Ulcerative col...	OMIM:617137
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Patent foramen ovale, Mitral valve prolapse, Left ventricular hypertrophy,...	OMIM:245600
Premature Ovarian Failure 7	Gonadal dysgenesis, Clitoral hypertrophy, Hypoplasia of the uterus	OMIM:612964
Townes-Brocks Syndrome 2	Hypospadias, Rectovaginal fistula, Vesicoureteral reflux, Bifid uterus, Crossed fused renal ectopia	OMIM:617466
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Anemia, Accessory spleen, Severe B lymphocytopenia, Thrombocytopenia, Lymphopenia	OMIM:620005
Pyruvate Dehydrogenase E1-Alpha Deficiency	Recurrent aspiration pneumonia	ORPHA:79243
Truncus Arteriosus	Transposition of the great arteries, Abnormal heart valve morphology, Truncus arteriosus, Hypopla...	ORPHA:3384
Congenital Disorder Of Glycosylation, Type Ia	Pericarditis, Decreased circulating IgA level, Decreased circulating IgG level	OMIM:212065
Tropical Endomyocardial Fibrosis	Left atrial enlargement, Endocardial fibrosis, Hepatomegaly, Right ventricular cardiomyopathy, Re...	ORPHA:75565
Hennekam-Beemer Syndrome	Pneumonia, Mastocytosis	ORPHA:2135
Williams Syndrome	Abnormal circulating lipid concentration, Hypoplasia of penis, Pulmonic stenosis, Nephrocalcinosi...	ORPHA:904
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Pancreatitis, Aspiration pneumonia	ORPHA:431361
Psoriasis-Related Juvenile Idiopathic Arthritis	Iritis, Malar rash, Skin rash, Oligoarthritis, Sacroiliac arthritis, Enthesitis, Iridocyclitis, A...	ORPHA:85436
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Partial atrioventricular canal defect, Secundum atrial septal defect, Card...	OMIM:620066
Classic Pantothenate Kinase-Associated Neurodegeneration	Aspiration pneumonia	ORPHA:216866
Müllerian Aplasia And Hyperandrogenism	Renal agenesis, Hypoplasia of the uterus, Abnormality of the ovary, Abnormal vagina morphology	ORPHA:247768
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Renal salt wasting, Hyperkalemia, Clitoral hypertrophy, Premature pubarche, Precocious puberty in...	ORPHA:90794
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:618078
Bohring-Opitz Syndrome	Annular pancreas, Cholelithiasis, Cardiomegaly, Urinary retention, Nephroblastoma, Abnormal cardi...	ORPHA:97297
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Lymphadenopathy, Hepatosplenomegaly, Anemia	ORPHA:85408
Ovarian Dysgenesis 2	Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:300510
Normosmic Congenital Hypogonadotropic Hypogonadism	Hypoplasia of the uterus, Male hypogonadism, Azoospermia, Hypoplasia of the ovary, Female hypogon...	ORPHA:432
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Cardiomyopathy	ORPHA:158687
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Atrial septal dilatation, Abnormality of the hepatic vasculature, Right atrial enla...	ORPHA:1677
Digeorge Syndrome	Anemia, Unilateral renal agenesis, Cholelithiasis, Renal insufficiency, Hypocalcemia, Truncus art...	OMIM:188400
Carney Triad	Lymphadenopathy, Ascites, Mediastinal lymphadenopathy, Anemia	ORPHA:139411
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating alanine am...	ORPHA:365
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Alpha-Mannosidosis, Adult Form	Pneumonia	ORPHA:309288
Malt Lymphoma	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:52417
Fanconi Anemia, Complementation Group F	Pneumonia, Bone marrow hypocellularity	OMIM:603467
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgG level, Decreased circulating antibody level, Decreased circulating IgA ...	OMIM:617062
Neuroendocrine Neoplasm Of Appendix	Hepatomegaly, Ovarian neoplasm, Elevated circulating hepatic transaminase concentration, Tricuspi...	ORPHA:100079
Spondyloenchondrodysplasia	Arthritis, Skin rash, Pneumonia, Juvenile rheumatoid arthritis, Hepatitis	ORPHA:1855
Congenital Tracheomalacia	Pneumothorax, Emphysema, Bronchiectasis, Pulmonary hypoplasia, Partial anomalous pulmonary venous...	ORPHA:95430
Satoyoshi Syndrome	Hypoplasia of the ovary, Hypoplasia of the uterus, Abnormality of the uterus, Abnormality of the ...	ORPHA:3130
Perrault Syndrome 3	Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:614129
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Abnormal lung lobation, Decreased circulating total IgM, Decreased circulating IgA level	ORPHA:369837
Listeriosis	Myocarditis, Pyelonephritis, Arteritis, Pericarditis, Pustule, Septic arthritis, Conjunctivitis, ...	ORPHA:533
Multiple Endocrine Neoplasia Type 2	Elevated urinary catecholamine level, Elevated urinary vanillylmandelic acid, Cervical neoplasm, ...	ORPHA:653
Linear Skin Defects With Multiple Congenital Anomalies 1	Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Ovotestis, Histiocytoid cardiomyopat...	OMIM:309801
Esophageal Atresia	Anorectal anomaly, Gastroesophageal reflux, Abnormal gastrointestinal tract morphology, Barrett e...	ORPHA:1199
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Clitoral hypertrophy, Precocious puberty in males, Hypokalemia, Long penis, Decreased circulating...	OMIM:202010
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Recurrent pneumonia, Aspiration pneumonia	ORPHA:314655
Gm1 Gangliosidosis	Infectious encephalitis, Recurrent respiratory infections, Aspiration pneumonia	ORPHA:354
Infantile Neuroaxonal Dystrophy	Aspiration pneumonia	ORPHA:35069
Satoyoshi Syndrome	Mildly elevated creatine kinase, Hypoplasia of the uterus	OMIM:600705
Testicular Agenesis	Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi...	ORPHA:325124
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the vagina, Aplasia of the uterus, Hydronephrosis, Urethral atresia, Absent external g...	OMIM:271520
Dubowitz Syndrome	Decreased circulating IgG level, Decreased circulating IgA level, Otitis media, Eczematoid dermat...	OMIM:223370
Premature Ovarian Failure 3	Hypoplasia of the uterus	OMIM:608996
Immunodeficiency 55	Absent natural killer cells, Neutropenia, Lymphadenopathy, Lymphopenia	OMIM:617827
46,Xx Sex Reversal 2	Hypoplasia of the uterus, Ovotestis, Azoospermia, Bifid scrotum, True hermaphroditism, Hypoplasia...	OMIM:278850
Wolf-Hirschhorn Syndrome	Hypospadias, Accessory spleen, Aplasia of the uterus, Cryptorchidism, Precocious puberty, Biliary...	OMIM:194190
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, B lymphocytopenia, Thrombocytopenia, T lymphocytopenia	OMIM:251260
Progeria-Short Stature-Pigmented Nevi Syndrome	Microcytic anemia, T lymphocytopenia	ORPHA:2959
Townes-Brocks Syndrome 1	Hypospadias, Rectovaginal fistula, Renal insufficiency, Vesicoureteral reflux, Bifid scrotum, Rec...	OMIM:107480
Perrault Syndrome 6	Streak ovary, Hypoplasia of the uterus	OMIM:617565
Microgastria-Limb Reduction Defect Syndrome	Esophageal atresia, Rectovaginal fistula, Gastroesophageal reflux, Microgastria, Perineal fistula...	ORPHA:2538
Systemic Lupus Erythematosus	Hematuria, Lymphadenopathy, Pyuria, Thrombocytopenia, Leukopenia, Proteinuria, Hemolytic anemia, ...	ORPHA:536
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Hypoplas...	ORPHA:90796
Igg4-Related Ophthalmic Disease	Abnormality of the kidney, Prostatitis, Pancreatitis, Cholangitis, Lymphadenopathy, Elevated circ...	ORPHA:449563
Hypothyroidism, Congenital, Nongoitrous, 2	Increased circulating thyroglobulin concentration, Hyperbilirubinemia	OMIM:218700
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Pneumonia, Inflammatory abnormality of the skin	ORPHA:26793
X-Linked Dystonia-Parkinsonism	Aspiration pneumonia	ORPHA:53351
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Patent foramen ovale, Ventricular septal defect, Cryptorchidism, Left ventricular noncompaction c...	OMIM:300967
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Pneumonia, Skin rash	ORPHA:247691
Ovarian Dysgenesis 7	Hypoplasia of the uterus	OMIM:618117
Pituitary Adenoma 4, Acth-Secreting	Emotional lability, Abnormal fear-induced behavior	OMIM:219090
Monosomy 18Q	Decreased circulating IgA level	ORPHA:1600
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Aplasia of the thymus, Abnormal B cell morphology, T lymphocytopenia	OMIM:618223
Absence Of The Pulmonary Artery	Patent foramen ovale, Truncus arteriosus, Abnormal heart morphology, Tetralogy of Fallot, Cardiom...	ORPHA:980
Cryptococcosis	Pneumonia, Prostatitis, Pleural effusion, Peritonitis, Nodular pattern on pulmonary HRCT, Osteomy...	ORPHA:1546
Ovarian Dysgenesis 5	Hypoplasia of the uterus	OMIM:617690
Turner Syndrome Due To Structural X Chromosome Anomalies	Gastrointestinal inflammation, High, narrow palate, Recurrent otitis media, Thyroiditis, High pal...	ORPHA:99413
Mosaic Monosomy X	Gastrointestinal inflammation, High, narrow palate, Recurrent otitis media, Thyroiditis, High pal...	ORPHA:99228
Monosomy X	Gastrointestinal inflammation, High, narrow palate, Recurrent otitis media, Thyroiditis, High pal...	ORPHA:99226
Turner Syndrome	Gastrointestinal inflammation, High, narrow palate, Recurrent otitis media, Thyroiditis, High pal...	ORPHA:881
Premature Ovarian Failure 6	Streak ovary, Hypoplasia of the uterus	OMIM:612310
Ciliary Dyskinesia, Primary, 20	Recurrent otitis media, Atelectasis, Pulmonary artery stenosis, Recurrent pneumonia, Recurrent si...	OMIM:615067
Premature Ovarian Failure 13	Hypoplasia of the uterus	OMIM:617442
Orofaciodigital Syndrome Ix	Recurrent aspiration pneumonia	OMIM:258865
Perrault Syndrome 4	Hypoplasia of the ovary, Hypoplasia of the uterus, Bicornuate uterus	OMIM:615300
Hemorrhagic Fever-Renal Syndrome	Pulmonary edema, Increased circulating interleukin 6 concentration, Acute tubulointerstitial neph...	ORPHA:340
Yunis-Varon Syndrome	Clitoral hypertrophy, Hypospadias, Renal artery stenosis, Cardiomyopathy, Cryptorchidism, Renovas...	ORPHA:3472
Ovarian Dysgenesis 9	Hypoplasia of the ovary, Hypoplasia of the uterus	OMIM:619665
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Aspiration pneumonia	OMIM:619167
Vici Syndrome	T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Leukopenia, Lymphopenia, ...	OMIM:242840
Alg12-Cdg	B lymphocytopenia, Thrombocytopenia	ORPHA:79324
Interatrial Communication	Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a...	ORPHA:1478
Premature Ovarian Failure 18	Hypoplasia of the ovary, Hypoplasia of the uterus	OMIM:619203
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Recurrent pneumonia, Recurrent aspiration pneumonia	OMIM:300472
Generalized Arterial Calcification Of Infancy	Hypophosphatemic rickets, Ventricular hypertrophy, Medullary nephrocalcinosis, Ascites, Hyperphos...	ORPHA:51608
46,Xy Sex Reversal 7	Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G...	OMIM:233420
Bardet-Biedl Syndrome	Aganglionic megacolon, Abnormality of the gastrointestinal tract, High palate, Inflammation of th...	ORPHA:110
Coffin-Siris Syndrome 1	Clitoral hypertrophy, Hydroureter, Ectopic kidney, Hypospadias, Aplasia of the uterus, Cryptorchi...	OMIM:135900
Seckel Syndrome 7	Hypoplasia of the uterus	OMIM:614851
Chronic Thromboembolic Pulmonary Hypertension	Inflammation of the large intestine, Osteomyelitis	ORPHA:70591
Zollinger-Ellison Syndrome	Peptic ulcer, Duodenal ulcer, Gastrointestinal hemorrhage, Intestinal obstruction, Diarrhea, Epis...	ORPHA:913
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Aspiration pneumonia, Recurrent respiratory infections, Keratitis, Tracheobronchial leiomyomatosis	ORPHA:1018
Acute Radiation Syndrome	Interstitial pneumonitis, Inflammatory abnormality of the skin	ORPHA:454831
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Aplasia of the uterus, Unilateral renal agenesis, Aplasia of the vagina	ORPHA:457284
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypoplasia of the uterus, Hypogonadotropic hypogonadism	OMIM:614842
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Cardiomegaly, Bicuspid aortic valve	ORPHA:91387
African Trypanosomiasis	Myocarditis, Jaundice, Hepatomegaly, Lymphadenopathy, Urinary incontinence, Pericarditis, Hepatos...	ORPHA:3385
Amoebiasis Due To Free-Living Amoebae	Sinusitis, Pustule, Respiratory tract infection, Pneumonia, Infectious encephalitis	ORPHA:68
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	B lymphocytopenia, Severe B lymphocytopenia	ORPHA:83617
Combined Oxidative Phosphorylation Deficiency 25	Aspiration pneumonia	OMIM:616430
Estrogen Resistance Syndrome	Hypoplasia of the uterus, Enlarged polycystic ovaries	ORPHA:785
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Renal malrotation, Hypoplasia of the uterus	OMIM:615866
Congenital Total Pulmonary Venous Return Anomaly	Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o...	ORPHA:99125
Mirage Syndrome	Aspiration pneumonia	OMIM:617053
Mercury Poisoning	Interstitial pneumonitis	ORPHA:330021
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Ehlers-Danlos Syndrome, Vascular Type	Anemia, Cervical insufficiency, Cryptorchidism, Uterine prolapse, Mitral valve prolapse, Cystocel...	OMIM:130050
Chops Syndrome	Anomalous pulmonary venous return, Aspiration pneumonia	OMIM:616368
Geleophysic Dysplasia 3	Pneumonia	OMIM:617809
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Igg4-Related Dacryoadenitis And Sialadenitis	Thrombocytopenia, Retroperitoneal fibrosis, Lymphadenopathy, Tubulointerstitial nephritis	ORPHA:79078
Pontocerebellar Hypoplasia Type 7	Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of the uterus, Micro...	ORPHA:284339
Cornelia De Lange Syndrome 1	Pneumonia, Otitis media	OMIM:122470
Phocomelia, Schinzel Type	Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis	ORPHA:2879
Multiple Endocrine Neoplasia, Type I	Peptic ulcer, Diarrhea, Esophagitis, Zollinger-Ellison syndrome	OMIM:131100
Mucopolysaccharidosis, Type Vi	Pneumonia, Recurrent upper respiratory tract infections	OMIM:253200
Proximal Spinal Muscular Atrophy	Recurrent aspiration pneumonia, Recurrent infections due to aspiration	ORPHA:70
Gm1 Gangliosidosis Type 1	Aspiration pneumonia	ORPHA:79255
Alpha-Mannosidosis, Infantile Form	Pneumonia, Otitis media	ORPHA:309282
Mowat-Wilson Syndrome	Aganglionic megacolon, Recurrent otitis media, Cleft hard palate, Bowel incontinence, Vomiting, S...	ORPHA:2152
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Recurrent aspiration pneumonia	ORPHA:73230
Peters Plus Syndrome	Renal hypoplasia/aplasia, Ureteral duplication, Hypospadias, Hypoplasia of the uterus, Bicuspid p...	ORPHA:709
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Pneumonia	ORPHA:90790
Woodhouse-Sakati Syndrome	Hypoplasia of the uterus, Hyperlipidemia, Hypoplasia of the fallopian tube, Hypergonadotropic hyp...	OMIM:241080
Peters-Plus Syndrome	Bilobate gallbladder, Ureteral duplication, Hypospadias, Clitoral hypoplasia, Pulmonic stenosis, ...	OMIM:261540
Marshall-Smith Syndrome	Recurrent aspiration pneumonia, Aspiration pneumonia, Recurrent upper respiratory tract infections	OMIM:602535
Tay-Sachs Disease	Aspiration pneumonia	ORPHA:845
Cushing Syndrome Due To Ectopic Acth Secretion	Abnormal lymph node morphology, Pancreatic adenocarcinoma, Decreased eosinophil count, Leukocytos...	ORPHA:99889
Alström Syndrome	Hypertriglyceridemia, Urinary incontinence, Elevated circulating hepatic transaminase concentrati...	ORPHA:64
Woodhouse-Sakati Syndrome	Hypoplasia of the uterus, Abnormal spermatogenesis, Hyperlipidemia, Hypoplasia of the fallopian t...	ORPHA:3464
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyperkalemia, Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Vesicovaginal fistula,...	OMIM:201750
Cholera	Aspiration pneumonia	ORPHA:173
Estrogen Resistance	Polycystic ovaries, Hypoplasia of the uterus	OMIM:615363
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Recurrent respiratory infections, Recurrent aspiration pneumonia	ORPHA:397715
Neu-Laxova Syndrome 1	Transposition of the great arteries, Patent foramen ovale, Cryptorchidism, Renal agenesis, Bifid ...	OMIM:256520
Atrial Septal Defect, Coronary Sinus Type	Pneumonia, Anomalous pulmonary venous return	ORPHA:99104
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424016
Gaucher Disease, Type Ii	Recurrent aspiration pneumonia, Bronchiolitis	OMIM:230900
Bickerstaff Brainstem Encephalitis	Pneumonia, Respiratory tract infection	ORPHA:79138
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Seborrheic dermatitis, Aspiration pneumonia	OMIM:301072
Severe Generalized Junctional Epidermolysis Bullosa	Pneumothorax, Gastrointestinal inflammation, Pyoderma, Pneumonia, Recurrent skin infections	ORPHA:79404
Acromesomelic Dysplasia 3	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:609441
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Abnormal fear-induced behavior, Emotional lability, Hyperactivity, Compulsive behaviors, Impulsiv...	ORPHA:353281
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625
Adult-Onset Autosomal Dominant Leukodystrophy	Aspiration pneumonia	ORPHA:99027
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,...	OMIM:119500
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Gastrointestinal inflammation, Skin rash, Rhinitis, Anterior uveitis, Inflammatory abnormality of...	ORPHA:95455
Neuroleptic Malignant Syndrome	Aspiration pneumonia	ORPHA:94093
Vascular Ehlers-Danlos Syndrome	Hypospadias, Hypokalemia, Uterine rupture, Abnormal heart valve morphology, Renovascular hyperten...	ORPHA:286
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Bifid uterus, Abnormal reproductive system morphology	ORPHA:1521
Viss Syndrome	Pneumothorax, Pulmonary artery aneurysm, Emphysema, Increased circulating IgG level, Chronic gast...	OMIM:619472
Limb-Mammary Syndrome	Aplasia of the uterus, Aplasia of the ovary	ORPHA:69085
Miller-Dieker Lissencephaly Syndrome	Recurrent aspiration pneumonia	OMIM:247200
Coffin-Siris Syndrome	Aspiration pneumonia, Recurrent upper respiratory tract infections	ORPHA:1465
Atrial Septal Defect, Ostium Secundum Type	Pneumonia	ORPHA:99103
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Blepharitis, Peripheral pulmonary artery stenosis, Recurrent aspiration pneumonia	ORPHA:280633
Pallister-Killian Syndrome	Aplasia of the upper vagina, Hypospadias, Small scrotum, Labial hypoplasia, Aplasia of the uterus...	OMIM:601803
Congenital Fiber-Type Disproportion Myopathy	Recurrent respiratory infections, Aspiration pneumonia	ORPHA:2020
Arboleda-Tham Syndrome	Chronic otitis media, Recurrent otitis media, Recurrent aspiration pneumonia, Conjunctivitis, Rec...	OMIM:616268
Opitz Gbbb Syndrome	Recurrent aspiration pneumonia	ORPHA:2745
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormal fear-induced behavior, Emotional lability, Hyperactivity, Compulsive behaviors, Impulsiv...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormal fear-induced behavior, Emotional lability, Hyperactivity, Compulsive behaviors, Impulsiv...	ORPHA:353277
Wiedemann-Rautenstrauch Syndrome	Pneumonia, Recurrent respiratory infections	OMIM:264090
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Aspiration pneumonia	ORPHA:444077
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Aspiration pneumonia	OMIM:619482
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Hypospadias, Anteriorly displaced genitalia, Aplasia of the uterus, Small scrotum, Cryptorchidism	OMIM:276820
Blepharophimosis, Ptosis, And Epicanthus Inversus	Hypoplasia of the uterus	OMIM:110100
Singleton-Merten Syndrome 1	Mitral valve calcification, Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Subv...	OMIM:182250
Niemann-Pick Disease Type C	Abnormal lung morphology, Aspiration pneumonia	ORPHA:646
Fontaine Progeroid Syndrome	Pneumothorax, Recurrent aspiration pneumonia, Pulmonary hypoplasia	OMIM:612289
Alobar Holoprosencephaly	Aspiration pneumonia	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Aspiration pneumonia	ORPHA:93926
Lobar Holoprosencephaly	Aspiration pneumonia	ORPHA:93924
Semilobar Holoprosencephaly	Aspiration pneumonia	ORPHA:220386
Hereditary Sensory And Autonomic Neuropathy Type 4	Recurrent aspiration pneumonia, Osteomyelitis, Septic arthritis, Fasciitis, Abnormality of humora...	ORPHA:642
Doors Syndrome	Aspiration pneumonia	ORPHA:79500
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Polycystic ovaries, Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism	ORPHA:572333
Loeys-Dietz Syndrome	Uterine rupture	ORPHA:60030
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Aspiration pneumonia	ORPHA:438213
Lafora Disease	Recurrent aspiration pneumonia	ORPHA:501
Norrie Disease	Uterine rupture, Cryptorchidism	ORPHA:649
Kabuki Syndrome 1	Recurrent otitis media, Recurrent aspiration pneumonia	OMIM:147920
Yunis-Varon Syndrome	Aspiration pneumonia	OMIM:216340
Pmm2-Cdg	Pericarditis, Impaired neutrophil chemotaxis, Aspiration pneumonia	ORPHA:79318

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.

Phenotype	Allele	Zygosity	Life Stage
Liver - MPATH pathological entity term histiocytic sarcoma	Crlf2^em1(IMPC)Mbp	HOM	Late adult
Lymph node - MPATH pathological entity term lymphoid hyperplasia	Crlf2^em1(IMPC)Mbp	HOM	Late adult
Lymph node - MPATH pathological process term hyperplasia	Crlf2^em1(IMPC)Mbp	HOM	Late adult
Spleen - MPATH pathological process term hyperplasia	Crlf2^em1(IMPC)Mbp	HOM	Late adult

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 Crlf2.

No publications found that use IMPC mice or data for Crlf2.

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MGI Allele	Allele Type	Produced
Crlf2^{tm210874(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Crlf2^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Crlf2 MGI:1889506

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Human diseases caused by Crlf2 mutations

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IMPC related publications

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