Gene Summary

Name:
cytokine receptor-like factor 2
Synonyms:
Ly114,  Tslpr,  Tpte2

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 System Allele Zyg Sex Life Stage P Value
enlarged spleen Crlf2em1(IMPC)Mbp HOM Late adult 0.00
abnormal brain morphology Crlf2em1(IMPC)Mbp HOM Late adult 0.00
abnormal kidney morphology Crlf2em1(IMPC)Mbp HOM Late adult 0.00
decreased circulating aspartate transaminase level Crlf2em1(IMPC)Mbp HOM Early adult 6.56×10-05
abnormal skin morphology Crlf2em1(IMPC)Mbp HOM Late adult 0.00
enlarged heart Crlf2em1(IMPC)Mbp HOM Late adult 0.00
increased freezing behavior Crlf2em1(IMPC)Mbp HOM   Early adult 1.32×10-05
abnormal liver morphology Crlf2em1(IMPC)Mbp HOM Late adult 0.00
abnormal heart morphology Crlf2em1(IMPC)Mbp HOM Late adult 0.00
enlarged lymph nodes Crlf2em1(IMPC)Mbp HOM Late adult 0.00
enlarged kidney Crlf2em1(IMPC)Mbp HOM Late adult 0.00
abnormal uterus morphology Crlf2em1(IMPC)Mbp HOM Late adult 0.00
abnormal spleen morphology Crlf2em1(IMPC)Mbp HOM Late adult 0.00
increased mean corpuscular volume Crlf2em1(IMPC)Mbp HOM Late adult 9.66×10-07
small heart Crlf2em1(IMPC)Mbp HOM Late adult 0.00
abnormal lymph node morphology Crlf2em1(IMPC)Mbp HOM Late adult 0.00
small kidney Crlf2em1(IMPC)Mbp HOM Late adult 0.00
increased circulating bilirubin level Crlf2em1(IMPC)Mbp HOM Late adult 7.38×10-10

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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

20 Images

X-ray

XRay Images Whole Body Dorso Ventral

60 Images

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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.

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 Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 11
Decreased circulating antibody level, Recurrent respiratory infections, Pneumonia OMIM:615206
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Immunodeficiency 40
Lymphopenia OMIM:616433
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
Severe Primary Trimethylaminuria
Negative affectivity, Low self esteem, Aggressive behavior, Depression, Emotional lability, Anxiety ORPHA:468726
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Gamma-A-Globulin, Defect In Assembly Of
Recurrent respiratory infections, Decreased circulating IgA level OMIM:137050
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
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
Mental Retardation, Autosomal Recessive 25
Anxiety OMIM:614346
Panic Disorder 1
Anxiety OMIM:167870
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Masp2 Deficiency
Ulcerative colitis, Recurrent pneumonia OMIM:613791
Agammaglobulinemia 2, Autosomal Recessive
Agammaglobulinemia, Recurrent respiratory infections, Recurrent pneumonia OMIM:613500
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Hepatomegaly, Splenomegaly, Anemia, A... OMIM:613673
Combined Immunodeficiency, X-Linked
Recurrent bronchitis, Pneumonia, Sinusitis, Decreased circulating IgG level, Otitis media OMIM:312863
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Immunodeficiency 48
Eczematoid dermatitis, Panhypogammaglobulinemia, Pneumonia OMIM:269840
Immunodeficiency 8
Lymphopenia OMIM:615401
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Hepatomegaly, Jaundice, Splenomegaly,... OMIM:237800
Immunodeficiency With Hyper-Igm, Type 2
Recurrent upper and lower respiratory tract infections, Decreased circulating IgA level, Impaired... OMIM:605258
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Hyperbili... OMIM:616689
Inflammatory Bowel Disease 28, Autosomal Recessive
Folliculitis, Hematochezia, Pyoderma, Colitis, Perianal abscess, Enterocolitis, Crohn's disease OMIM:613148
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Pyridoxine-responsive sideroblastic anemia, Sideroblastic anemia, Decreased mean cor... OMIM:206000
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center, Endocardial fibrosis, Abnormality of the liver OMIM:235550
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Increased circulating IgM level, Recurrent upper and lower respiratory tract infect... OMIM:608106
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Decreased circulating antibody level, Agammaglobulinemia, Depressed nasal bridge OMIM:616911
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Recurrent otitis media, Recurrent sinusitis, Reduced isohemagglu... OMIM:613493
Enterocolitis
Enterocolitis, Ulcerative colitis, Abdominal distention, Hematochezia OMIM:226150
Immunodeficiency 18
Recurrent otitis media, Recurrent respiratory infections, Defective T cell proliferation OMIM:615615
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Cutaneous abscess, Increased circulating IgE level, Atopic dermatitis, Recurrent upper respirator... OMIM:618944
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Abdominal distention, Secretory diarrhea OMIM:616868
Intellectual Developmental Disorder, X-Linked 63
Anxiety OMIM:300387
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Hypochromia, Azoospermia, Hepatomegaly, Hypogonadis... OMIM:615234
Immunodeficiency 24
Partial absence of specific antibody response to tetanus vaccine, Respiratory tract infection, De... OMIM:615897
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Immunodeficiency 51
Folliculitis, Recurrent bronchitis, Cutaneous abscess, Pustule, Chronic oral candidiasis, Recurre... OMIM:613953
Hirschsprung Disease, Susceptibility To, 1
Constipation, Aganglionic megacolon, Abnormality of enteric ganglion morphology, Vomiting, Entero... OMIM:142623
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Increased circulating ferrit... ORPHA:3202
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level, Glomerulonephritis, Pneumonia OMIM:247800
Inflammatory Bowel Disease (Crohn Disease) 30
Esophagitis, Duodenitis, Abdominal pain, Chronic diarrhea, Ileitis, Protein-losing enteropathy, P... OMIM:619079
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Apolipoprotein A-I Deficiency
Splenomegaly, Anemia, Decreased HDL cholesterol concentration, Abnormality of the liver, Lymphade... ORPHA:425
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Recurrent respiratory infections OMIM:615214
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Ulcerative colitis, Bloody diarrhea OMIM:619398
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Enterocutaneous fistula, Rectovaginal fistula, Perianal abscess, Enterocolitis OMIM:612567
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Recurrent respiratory infections OMIM:613495
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Hyperbilirubinemia, Splenomegaly OMIM:179700
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Chronic hemolytic anemia, Reticulocytosis, Increase... ORPHA:766
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Cirrhosis, Hypochromia, Elevated hepatic transamina... OMIM:616860
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Bile Acid Synthesis Defect, Congenital, 5
Iron deficiency anemia, Increased total iron binding capacity, Elevated hepatic transaminase, Por... OMIM:616278
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, De... OMIM:606843
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Short nose, Decreased circulating antibody level, Pneumonia, Anteverted nares, Chronic bronchitis... OMIM:614069
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia, Respiratory tract infection OMIM:615592
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating antibody level, Recurrent skin infections, Recurrent respiratory infections OMIM:617744
Agammaglobulinemia 6, Autosomal Recessive
Chronic sinusitis, Recurrent bronchitis, Recurrent otitis media, Conjunctivitis, Agammaglobulinem... OMIM:612692
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Pulmonary infiltrates OMIM:235900
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Abdominal pain, Ulcerative colitis, Diarrhea, Recurrent apht... OMIM:266600
Immunodeficiency, Common Variable, 7
Recurrent respiratory infections, Reduced isohemagglutinin level, Pharyngalgia, Decreased circula... OMIM:614699
Agammaglobulinemia 1, Autosomal Recessive
Bronchiectasis, Decreased circulating antibody level, Recurrent otitis media, Recurrent sinusitis... OMIM:601495
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Recurrent sinopulmonary infections OMIM:609529
Immunodeficiency, Common Variable, 14
Defective B cell differentiation, Decreased specific antibody response to vaccination, Recurrent ... OMIM:617765
Immunodeficiency, Common Variable, 1
Recurrent bronchitis, Bronchiectasis, Recurrent otitis media, Recurrent sinusitis, Pneumonia, Imp... OMIM:607594
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Decreased circulating IgG level OMIM:247630
Immunodeficiency 50
Decreased circulating antibody level, Recurrent respiratory infections, Eczema OMIM:300988
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Severe Combined Immunodeficiency, X-Linked
Skin rash, Chronic oral candidiasis, Decreased circulating IgE, Pneumonia, Agammaglobulinemia, De... OMIM:300400
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia OMIM:616941
Nephronophthisis 16
Nephronophthisis, Situs inversus totalis, Enlarged kidney, Cholestasis, Hepatic fibrosis, Pulmoni... OMIM:615382
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Recurrent sinusitis, Perioral eczema, Colitis, Diarrhea, Recurrent aphthous stomatitis OMIM:613960
Ige Responsiveness, Atopic
Eczema, Allergic rhinitis, Increased circulating IgE level, Asthma OMIM:147050
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Recurrent bronchopulmonary infections OMIM:610798
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Truncus arteriosus, Enlarged kidney, Cystic renal dysplasia, Cholestasis,... OMIM:615415
Agammaglobulinemia 4, Autosomal Recessive
Chronic sinusitis, Recurrent otitis media, Agammaglobulinemia, Recurrent pneumonia, Recurrent res... OMIM:613502
5-Oxoprolinase Deficiency
Vomiting, Enterocolitis, Diarrhea, Abdominal pain OMIM:260005
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level OMIM:242880
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bronchitis, Recurrent otitis media, Agammaglobulinemia, Recurrent respiratory infections OMIM:613501
Candidiasis, Familial, 1
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:114580
Reticuloendotheliosis, X-Linked
Jaundice, Hepatosplenomegaly, Anemia, Lymphadenopathy OMIM:312500
Diverticulosis, Small-Intestinal
Jejunoileal diverticula, Thyroiditis, Rheumatoid arthritis, Ulcerative colitis, Duodenal divertic... OMIM:223320
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infections OMIM:618987
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Cholestasis-Lymphedema Syndrome
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Conjugated hyperbil... OMIM:214900
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Abnormality of the liver, Anemia OMIM:206100
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Harderoporphyria
Increased circulating ferritin concentration, Hemolytic anemia, Reticulocytosis, Prolonged neonat... OMIM:618892
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Cutaneous abscess, Decreased proportion of C... OMIM:618204
Asthma, Short Stature, And Elevated Iga
Asthma, Increased circulating IgA level OMIM:208600
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Immunoglobulin A Deficiency 1
Recurrent respiratory infections, Decreased circulating IgA level OMIM:137100
Inflammatory Bowel Disease 11
Inflammation of the large intestine, Hematochezia, Diarrhea, Abdominal pain OMIM:191390
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Immunodeficiency, Common Variable, 6
Autoimmune thrombocytopenia, Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune compl... OMIM:613496
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased circulating IgA level, Decreased specific antibody res... OMIM:616452
Hyperlipoproteinemia, Type Id
Colitis OMIM:615947
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia
Decreased circulating antibody level, Intraalveolar phospholipid accumulation, Recurrent respirat... OMIM:618042
Ciliary Dyskinesia, Primary, 44
Bronchiectasis, Recurrent sinusitis, Neonatal respiratory distress, Reduced forced expiratory vol... OMIM:618781
Rotor Syndrome
Conjugated hyperbilirubinemia, Bilirubinuria, Hyperbilirubinemia, Jaundice, Intermittent jaundice... ORPHA:3111
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Conjugated hyperbilirubinemia, Hepatomegaly, Splenomegaly, Cardiomegaly, ... OMIM:269920
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Cirrhosis, Abnormality of iron homeostasis, Elevate... OMIM:613313
Immunodeficiency, Common Variable, 2
Recurrent bronchitis, Partial absence of specific antibody response to unconjugated pneumococcus ... OMIM:240500
Visceral Myopathy 2
Megaduodenum, Hiatus hernia, Esophagitis, Dysphagia, Gastroesophageal reflux, Intestinal malrotat... OMIM:619350
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Purulent rhinitis, Panhypogammaglobulinemia, Pneumonia, Conjunctivitis, Otitis media, Arthritis OMIM:601457
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Nonspherocytic hemolytic anemia, Reticulocytosis, Cholecystitis, Hyperbilirubinemia, Cholelithias... OMIM:235700
Cystic Echinococcosis
Ovarian cyst, Peritoneal abscess, Elevated hepatic transaminase, Abnormal heart morphology, Hepat... ORPHA:400
Malaria
Acute kidney injury, Hyperbilirubinemia, Thrombocytopenia, Elevated circulating C-reactive protei... ORPHA:673
Ethanolaminosis
Cardiomegaly OMIM:227150
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Atrial septal defect, Enlarged kidney, Hepatic cysts, Pancreatic cysts, Polysplenia, B... OMIM:208540
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Crigler-Najjar Syndrome Type 1
Biliary tract abnormality, Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Unconjugated... ORPHA:79234
Cirrhosis, Familial
Increased circulating antibody level, Hepatitis, Chronic active hepatitis OMIM:118900
Immunodeficiency 14A, Autosomal Dominant
Increased circulating IgM level, Bronchiectasis, Decreased circulating IgG2 level, Recurrent sino... OMIM:615513
Geniospasm 1
Anxiety OMIM:190100
Immunodeficiency 61
Recurrent otitis media, Recurrent sinusitis, Agammaglobulinemia, Recurrent respiratory infections... OMIM:300310
Pulmonary Fibrosis, Idiopathic
Dyspnea, Exertional dyspnea, Alveolar cell carcinoma, Increased circulating antibody level, Pulmo... OMIM:178500
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Cholelithiasis, Jaundice, Splenomegaly, Sp... OMIM:182900
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Jaundice, Splenomegaly, Spherocytosis OMIM:612653
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Jaundice, Splenomegaly, Acanthocytosis, Sp... OMIM:616649
Hypermethioninemia Due To Adenosine Kinase Deficiency
Atrial septal defect, Elevated hepatic transaminase, Hepatic steatosis, Hyperbilirubinemia, Hyper... OMIM:614300
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Tubulointerstitial fibrosis, Enlarged kidney, Hepatic cysts, Periportal fibr... OMIM:263200
Aa Amyloidosis
Acute kidney injury, Renal amyloidosis, Abnormal heart morphology, Enlarged kidney, Nephropathy, ... ORPHA:85445
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Stomatocytosis, Reticulocytosis, Hyperbilirubinemia, Hepatomegaly, Jaundice, Sp... OMIM:185000
Cernunnos-Xlf Deficiency
T lymphocytopenia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia ORPHA:169079
Immunodeficiency 11B With Atopic Dermatitis
Atopic dermatitis, Pneumonia, Asthma OMIM:617638
Neutropenia, Chronic Familial
Increased circulating antibody level, Periodontitis OMIM:162700
Hereditary Elliptocytosis
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Hyperbilirubinemia, Abnormal e... ORPHA:288
Mounier-Kühn Syndrome
Pneumonia, Recurrent bronchopulmonary infections, Tracheal stenosis, Bronchitis, Tracheobronchmeg... ORPHA:3347
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Recurrent urinary tract infections, Hepatomegaly, Splenomegaly, Lymp... OMIM:618495
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia, Heinz bodies, Compensated hemolytic anemia OMIM:614164
Tyrosinemia, Type I
Cirrhosis, Elevated hepatic transaminase, Enlarged kidney, Hypertyrosinemia, Renal Fanconi syndro... OMIM:276700
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Elevated urinary delta-aminolevulinic acid, Splenomegaly OMIM:206400
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Hardikar Syndrome
Elevated hepatic transaminase, Ventricular septal defect, Hydroureter, Hyperbilirubinemia, Recurr... OMIM:612726
Immunodeficiency, Common Variable, 12, With Autoimmunity
Chronic pulmonary obstruction, Bronchiectasis, Decreased circulating antibody level, Recurrent si... OMIM:616576
Immunodeficiency 60
Bronchiectasis, Pulmonary infiltrates, Decreased circulating IgE, Pulmonary fibrosis, Ulcerative ... OMIM:618394
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Elevated hepatic transaminase, Hyperbilirubinemia, Macrovesicul... OMIM:613070
Hepatic Veno-Occlusive Disease
Increased total bilirubin, Elevated hepatic transaminase, Hepatomegaly, Jaundice, Ascites, Renal ... ORPHA:890
Biliary Atresia, Extrahepatic
Increased total bilirubin, Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Extrahe... OMIM:210500
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Elevate... OMIM:251880
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Nephrocalcinosis, Hemolytic anemia, Reticulocytosis, Distal renal tubular acidosis, Isothenuria, ... OMIM:611590
Immunodeficiency 14B, Autosomal Recessive
Inflammation of the large intestine, Recurrent sinusitis, Colitis, Decreased circulating IgA leve... OMIM:619281
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Hyperbilirubinemia, Jaundice, ... OMIM:109270
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia ORPHA:60026
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Bronchiectasis, Nasal polyposis, Recurrent sinusitis, Pneumonia, R... OMIM:618695
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... ORPHA:444463
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Diamond-Blackfan Anemia 6
Atrial septal defect, Ventricular hypertrophy, Persistence of hemoglobin F, Ventricular septal de... OMIM:612561
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Elevated hepatic transaminase, Hyperbilirubinemia, Abnorma... ORPHA:98870
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Restrictive cardiomyopathy,... ORPHA:822
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Hepato... OMIM:211600
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, T lymphocytopenia, Lymphadenopathy, Splenomegaly OMIM:608971
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level, Late onset atopic dermatitis OMIM:221700
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Hemoglobinuria, Prolonged neon... OMIM:300908
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... ORPHA:231154
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly OMIM:619164
Gastroesophageal Reflux
Esophagitis, Gastroesophageal reflux, Barrett esophagus, Esophageal neoplasm OMIM:109350
Dubin-Johnson Syndrome
Jaundice, Conjugated hyperbilirubinemia, Biliary tract abnormality OMIM:237500
Alpha-Heavy Chain Disease
Hypocalcemia, Hepatomegaly, Ascites, Anemia, Splenomegaly, Premature ovarian insufficiency, Lymph... ORPHA:100025
Immunodeficiency 13
T lymphocytopenia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD... OMIM:615518
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hyperbi... OMIM:607765
Crigler-Najjar Syndrome Type 2
Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Beta-Thalassemia Intermedia
Cirrhosis, Abnormality of iron homeostasis, Persistence of hemoglobin F, Leukocytosis, Extramedul... ORPHA:231222
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Bronchiolitis, Interstitial pneumonitis, Ulcerative colitis, Decreased circulating IgA level, Dec... OMIM:614878
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Hepatomegaly, ... OMIM:615895
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Neutropenia, Thrombocytopenia, Ja... OMIM:603552
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Giant cell hepatitis, Ventricular septal defect, Conjugated hyperb... OMIM:613404
Mu-Heavy Chain Disease
Nephropathy, Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Anemia, Splenomegaly, ... ORPHA:100024
Combined Immunodeficiency Due To Dock8 Deficiency
Atopic dermatitis, Increased circulating IgE level, Recurrent bacterial skin infections, Chronic ... ORPHA:217390
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Intrahepatic cholestasis, Hyperbilirubinemia, Hepatomegaly, Jaundi... OMIM:235555
Isolated Polycystic Liver Disease
Increased total bilirubin, Multiple renal cysts, Polycystic liver disease, Hepatomegaly, Abnormal... ORPHA:2924
Immunodeficiency 35
Increased circulating IgE level, Recurrent respiratory infections OMIM:611521
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Hyperammonemia, Long-chain dicarboxylic aciduria, Decreased plasma tot... OMIM:608836
Immunodeficiency, Common Variable, 13
Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Whim Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level, Bronchiectasis, Recurrent ... OMIM:193670
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Minimal change glomerulonephritis, Colitis OMIM:617006
Immunodeficiency 37
Encephalitis, Colitis OMIM:616098
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Extramedullary hematopoiesis, Hyperbilirubinemia, Pancytopenia, Thrombocytopenia, H... OMIM:259720
Methylcobalamin Deficiency Type Cble
Neutropenia, Glomerulopathy, Pancytopenia, Hemolytic-uremic syndrome, Hypomethioninemia, Hyperhom... ORPHA:2169
Immunodeficiency 70
Decreased circulating antibody level, Furuncle, Recurrent sinusitis, Colitis, Decreased circulati... OMIM:618969
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Hepatomegaly, Endocardial fibrosis, Splenomegaly, Myeloproliferative ... OMIM:607685
Pneumocystosis
Dyspnea, Chronic oral candidiasis, Interstitial pneumonitis, Exertional dyspnea, Increased circul... ORPHA:723
Ciliary Dyskinesia, Primary, 9
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Cough, Pneumonia... OMIM:612444
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM OMIM:606445
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin, Polycystic liver disease, Renal cyst, Ascites OMIM:174050
Mucopolysaccharidosis-Plus Syndrome
Atrial septal defect, Enlarged kidney, Focal segmental glomerulosclerosis, Proteinuria, Macrovesi... OMIM:617303
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Colitis, Hepatitis, Recurrent skin infections,... OMIM:300635
Lcat Deficiency
Hemolytic anemia, Hematuria, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Renal insufficienc... ORPHA:650
Nephronophthisis 2
Nephronophthisis, Situs inversus totalis, Enlarged kidney, Elevated circulating creatinine concen... OMIM:602088
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hypertriglyceridemia, Hepatom... OMIM:614480
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia, Fava bean-induced hemolytic anemia OMIM:618660
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Hypertriglyceridemia, Splenomegaly OMIM:619175
Ciliary Dyskinesia, Primary, 21
Chronic sinusitis, Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Atelectasis, Neona... OMIM:615294
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hyperthreoninemia, Abnormal cir... ORPHA:247598
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis ORPHA:88643
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia, Jaundice OMIM:237900
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Autoimmune Lymphoproliferative Syndrome, Type V
Bronchiectasis, Recurrent upper respiratory tract infections, Decreased circulating antibody leve... OMIM:616100
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Reticulocytosis, Cholecystitis, Cholelithiasis, Jaundice, Splenomegaly,... OMIM:266200
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin, Elevated hepatic transaminase, Cholestasis, Hepatomegaly, Jaundice, He... OMIM:618528
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatocellular carcinoma, Conjugated hyperbilirubinemia, Hep... OMIM:601847
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of class-switched memory B cells, Elevated circulating aspartate aminotransf... OMIM:615559
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Hyperlipoproteinemia, Splenomegaly, Recurrent pancreatitis OMIM:118830
Immunodeficiency 57 With Autoinflammation
Partial absence of specific antibody response to tetanus vaccine, Skin rash, Inflammation of the ... OMIM:618108
Immunodeficiency 32B
Recurrent respiratory infections, Pneumonia, Bronchiectasis, Sinusitis OMIM:226990
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Azoospermia, Elevated hepatic transaminase, Decreas... ORPHA:300298
Kaposiform Lymphangiomatosis
Multiple renal cysts, Enlarged kidney, Pancreatic cysts, Pericardial effusion, Abnormal lymphatic... ORPHA:464329
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Atrial septal defect, Elevated hepatic transaminase, Giant cell hepatitis, Ventricular septal def... OMIM:208085
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:618852
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Increased circulating antibody level, Erythroderma, Pneumonia, Hepatiti... ORPHA:169160
Acute Lung Injury
Dyspnea, Respiratory distress, Abnormality of serum cytokine level, Pneumonia, Acute pancreatitis... ORPHA:178320
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia... OMIM:619126
Edinburgh Malformation Syndrome
Jaundice, Neonatal hyperbilirubinemia OMIM:129850
Caroli Syndrome
Conjugated hyperbilirubinemia, Jaundice, Hypersplenism, Leukopenia, Abnormality of the kidney, Ci... ORPHA:480520
Immune Deficiency Disease
Decreased circulating total IgM, Cholangitis, Fulminant hepatitis OMIM:242850
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume OMIM:261000
Ciliary Dyskinesia, Primary, 33
Recurrent bronchitis, Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Cough, Atelecta... OMIM:616726
Congenital Toxoplasmosis
Elevated hepatic transaminase, Thrombocytopenia, Jaundice, Hepatomegaly, Cardiomegaly, Anemia, As... ORPHA:858
Galactosemia Iii
Aminoaciduria, Hypergalactosemia, Hepatomegaly, Jaundice, Galactosuria, Splenomegaly OMIM:230350
Mucus Inspissation Of Respiratory Tract
Chronic pulmonary obstruction, Bronchiectasis, Atelectasis, Chronic sinusitis, Recurrent respirat... OMIM:253240
Burkitt Lymphoma
Abnormality of the ovary, Decreased proportion of CD4-positive helper T cells, Abnormality of the... ORPHA:543
Ciliary Dyskinesia, Primary, 23
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Productive cough... OMIM:615451
Ciliary Dyskinesia, Primary, 27
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Recurrent respir... OMIM:615504
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Thrombocytopenia, Acute myeloid leukemia, Increased mean corpuscular volume OMIM:252270
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Increased total bilirubin, Abnormal urinary color, Splenomegaly ORPHA:90037
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgM level, Bronchiectasis, Recurrent otitis media, Increased circulating Ig... OMIM:619220
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Atrial septal defect, Exocrine pancreatic insufficiency, E... ORPHA:1667
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Hypomethioninemia, Methylmalonic aciduria, Methylmalonic acidemia, Increase... OMIM:277410
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, Pancreatic cysts, H... ORPHA:730
Majeed Syndrome
Microcytic anemia, Erythroid hyperplasia, Anemia of inadequate production, Decreased mean corpusc... OMIM:609628
Tracheobronchopathia Osteochondroplastica
Abnormal sputum, Esophagitis, Wheezing, Tracheal calcification, Exertional dyspnea, Pneumonia, Re... ORPHA:3348
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating IgG ... ORPHA:859
Jaundice, Familial Obstructive, Of Infancy
Jaundice, Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Jaundice, Conjugated hyperbilirubinemia OMIM:237550
Crigler-Najjar Syndrome, Type Ii
Jaundice, Unconjugated hyperbilirubinemia OMIM:606785
Immunodeficiency, Common Variable, 11
Inflammation of the large intestine, Crohn's disease, Mucoid diarrhea OMIM:615767
Hyperbilirubinemia, Rotor Type
Jaundice, Conjugated hyperbilirubinemia OMIM:237450
Immunodeficiency 72 With Autoinflammation
Recurrent otitis media, Increased circulating IgG level, Increased circulating IgE level, Bronchi... OMIM:618982
Trimethylaminuria
Trimethylaminuria, Neutropenia, Anemia, Splenomegaly OMIM:602079
Caroli Disease
Cirrhosis, Leukocytosis, Intrahepatic cholestasis, Biliary cirrhosis, Conjugated hyperbilirubinem... ORPHA:53035
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Castleman Disease
Ureteral obstruction, Abdominal mass, Hematuria, Restrictive cardiomyopathy, Generalized lymphade... ORPHA:160
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Increased circulating IgE level, Recurrent upper respiratory tract infections, Abnormality of hum... ORPHA:277
Tyrosinemia Type 1
Generalized aminoaciduria, Hepatocellular carcinoma, Acute hepatic failure, Hepatomegaly, Splenom... ORPHA:882
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Hepatomegaly, Anemia, Splenomega... OMIM:133180
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Panhypogammaglobulinemia, Pneumonia, Otitis media, Recurrent upper respiratory tract infections OMIM:602450
Crigler-Najjar Syndrome, Type I
Jaundice, Unconjugated hyperbilirubinemia OMIM:218800
Glycogen Storage Disease Vii
Increased total bilirubin, Hemolytic anemia, Reticulocytosis, Reduced erythrocyte 2,3-diphosphogl... OMIM:232800
Young Syndrome
Recurrent bronchitis, Congenital cystic adenomatoid malformation of the lung, Bronchiectasis, Rec... OMIM:279000
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hemophagocytosis, Thrombocytopenia, Hypertriglyceri... OMIM:613101
Sea-Blue Histiocyte Disease
Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Immunodeficiency With Hyper-Igm, Type 4
Impaired Ig class switch recombination, Osteomyelitis, Bronchiectasis, Recurrent upper respirator... OMIM:608184
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Congenital Bile Acid Synthesis Defect Type 2
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Chronic hepatic fai... ORPHA:79303
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent bronchitis, Bronchiectasis, Decreased specific anti-polysaccharide antibody level, Recu... OMIM:300853
Idiopathic Bronchiectasis
Respiratory tract infection, Wheezing, Dyspnea, Bronchiectasis, Emphysema, Decreased pulmonary fu... ORPHA:60033
Diamond-Blackfan Anemia 7
Horseshoe kidney, Ventricular septal defect, Secundum atrial septal defect, Neutropenia, Vesicour... OMIM:612562
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hemophagocytosis, Increased total bilirubin, Hypopr... OMIM:267700
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgG level, Increased circulating IgA level OMIM:144120
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Cirrhosis, Azoospermia, Hepatomegaly, Splenomegaly,... OMIM:602390
Congenital Bile Acid Synthesis Defect Type 3
Elevated hepatic transaminase, Neonatal cholestatic liver disease, Biliary tract abnormality, Hep... ORPHA:79302
Pseudomyxoma Peritonei
Inflammation of the large intestine, Abdominal pain, Constipation, Nausea and vomiting, Intestina... ORPHA:26790
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Recurrent urinary tract infections, Jaundice, Hypersplenism, Renal insuffici... ORPHA:731
Immunodeficiency 43
Decreased circulating IgG level, Recurrent respiratory infections, Bronchiectasis OMIM:241600
Myeloma, Multiple
Paraproteinemia OMIM:254500
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Cirrhosis, Intrahepatic cholestasis, Hyperbilirubinemia, Hypermethioninemia... OMIM:605814
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Hepatomegaly, Leukopenia, Splenomega... OMIM:615285
Dubin-Johnson Syndrome
Abnormal urinary color, Conjugated hyperbilirubinemia, Biliary tract abnormality, Hepatomegaly, J... ORPHA:234
Bile Acid Conjugation Defect 1
Elevated circulating alanine aminotransferase concentration, Conjugated hyperbilirubinemia, Hepat... OMIM:619232
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume,... OMIM:618849
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Niemann-Pick Disease, Type B
Bone-marrow foam cells, Sea-blue histiocytosis, Hypertriglyceridemia, Hepatomegaly, Splenomegaly,... OMIM:607616
Panniculitis-Induced Localized Lipodystrophy
Abnormal immunoglobulin level, Inflammatory abnormality of the skin ORPHA:90159
Ciliary Dyskinesia, Primary, 5
Recurrent bronchitis, Respiratory tract infection, Bronchiectasis, Ciliary dyskinesia, Recurrent ... OMIM:608647
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Cirrhosis, Azoospermia, Elevated hepatic transamina... OMIM:235200
Shwachman-Diamond Syndrome
Neutropenia, Pancytopenia, Pancreatic hypoplasia, Leukopenia, Anemia, Thrombocytopenia, Elevated ... ORPHA:811
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the kidney, Elevated hepatic transaminase, Abnormal testis morphology, Liver absce... ORPHA:54251
Autoinflammatory Syndrome, Familial, Behcet-Like
Skin rash, Ileal ulcer, Anterior uveitis, Colitis OMIM:616744
Idiopathic Achalasia
Bronchitis, Recurrent aspiration pneumonia, Cough, Wheezing ORPHA:930
Peroxisome Biogenesis Disorder 12A (Zellweger)
Atrial septal defect, Elevated hepatic transaminase, Hyperbilirubinemia, Elevated circulating lon... OMIM:614886
Pandas
Claustrophobia, Depression, Agoraphobia, Separation insecurity, Emotional lability, Impulsivity, ... ORPHA:66624
Aspergillosis
Pleuritis, Bronchiectasis, Cough, Pneumonia, Abnormal tracheobronchial morphology, Sinusitis, Ost... ORPHA:1163
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anisocytosis, Anemia of inadequat... OMIM:615631
Adult Acute Respiratory Distress Syndrome
Dyspnea, Abnormal serum interleukin level, Pneumonia, Abnormality of tumor necrosis factor secret... ORPHA:70578
Granulomatous Slack Skin
Acute kidney injury, Nephrocalcinosis, Hypercalcemia, Abnormality of the lymph nodes ORPHA:33111
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, Recurrent upper respiratory tract infections, Recurrent otitis media, Panhypoga... OMIM:600802
Immunodeficiency, Common Variable, 10
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Psoriasiform dermatitis, Decrea... OMIM:615577
Congenital Disorder Of Glycosylation, Type Iio
Hypercholesterolemia, Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Prolonged neonatal ... OMIM:616828
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Enlarged kidney, Hydronephrosis, Atrioventricular canal defect, Transposition o... OMIM:314390
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Chronic bronchitis, Bronchiectasis OMIM:613071
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Chronic bronchitis, Bronchiectasis OMIM:613021
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Chronic bronchitis, Bronchiectasis OMIM:211400
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:86893
Immunodeficiency 68
Abscess, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Immunodeficiency 69
Increased circulating ferritin concentration, Thrombocytosis, Leukocytosis, Pancytopenia, Anemia,... OMIM:618963
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hyperbilirubinemia... OMIM:214950
Igg4-Related Kidney Disease
Abnormality of mesentery morphology, Hematuria, Pericarditis, Acute kidney injury, Urinary bladde... ORPHA:449395
Cholestasis, Benign Recurrent Intrahepatic, 1
Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Hepatomegaly, Int... OMIM:243300
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Colitis, Cystic acne, Sterile arthritis, Acne, Arthritis OMIM:604416
Ciliary Dyskinesia, Primary, 28
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Recurrent respir... OMIM:615505
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Cirrhosis, Abnormality of iron homeostasis, Decreased mean corpusc... ORPHA:231226
Amyloidosis, Familial Visceral
Hematuria, Nephropathy, Cholestasis, Hepatomegaly, Nephrotic syndrome, Splenomegaly, Proteinuria OMIM:105200
Wiskott-Aldrich Syndrome 2
Eczema, Defective T cell proliferation, Reduced natural killer cell activity OMIM:614493
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia OMIM:200900
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Anemia, Splenomegaly, Hypersplenis... ORPHA:846
Beta-Thalassemia
Abnormality of iron homeostasis, Microcytic anemia, Cholelithiasis, Thrombocytopenia, Hepatomegal... ORPHA:848
Tularemia
Abnormal nasopharyngeal adenoid morphology, Skin rash, Cutaneous abscess, Respiratory distress, I... ORPHA:3392
Ciliary Dyskinesia, Primary, 39
Bronchiectasis, Recurrent otitis media, Cough, Rhinorrhea, Chronic lung disease, Recurrent lower ... OMIM:618254
Beta-Thalassemia Major
Hypochromic microcytic anemia, Cirrhosis, Abnormality of iron homeostasis, Decreased mean corpusc... ORPHA:231214
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:611926
Autoimmune Hepatitis
Acute hepatitis, Increased total bilirubin, Cirrhosis, Elevated hepatic transaminase, Viral hepat... ORPHA:2137
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Conjugated hyperbilirubinemia, Bilia... ORPHA:567983
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hemophagocytosis, Increased total bilirubin, Hypopr... OMIM:603553
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis, Diverticulosis of trachea OMIM:275300
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Increased circulating IgM level, Short nose, Bronchiectasis, Pneumonia, Decreased circulating IgA... OMIM:242860
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Aminoaciduria, Splenomegaly ORPHA:79238
Gilbert Syndrome
Jaundice, Unconjugated hyperbilirubinemia OMIM:143500
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
H Syndrome
Azoospermia, Microcytic anemia, Enlarged kidney, Histiocytosis, Hypertriglyceridemia, Decreased t... ORPHA:168569
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Autoimmu... OMIM:619375
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Aminoaciduria, Splenomegaly ORPHA:417
Muscular Hypertonia, Lethal
Pneumonia OMIM:254120
Kerion Celsi
Lymphadenopathy ORPHA:499
Ciliary Dyskinesia, Primary, 20
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Absent outer dyn... OMIM:615067
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Hypogonadism, Cardiomyopathy, Splenomegaly OMIM:608540
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Acute kidney injury, Lymphadenitis, Leukocytosis, C... OMIM:618886
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Follicula... OMIM:614470
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Lymphopenia, Increased proportion ... OMIM:617514
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, Sc... OMIM:308230
Immunodeficiency 47
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jau... OMIM:300972
Secondary Short Bowel Syndrome
Malnutrition, Small intestinal dysmotility, Constipation, Villous atrophy, Aganglionic megacolon,... ORPHA:95427
Cholesterol Pneumonia
Tachypnea, Cough, Pneumonia OMIM:215030
Immunodeficiency 27A
Increased circulating IgM level, Increased inflammatory response, Salmonella osteomyelitis, Pneum... OMIM:209950
Splenoportal Vascular Anomalies
Cirrhosis, Hepatic fibrosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hyperam... OMIM:271500
Immunodeficiency 66
Pustule, Recurrent skin infections, Defective T cell proliferation OMIM:618847
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infections ORPHA:2643
Blackfan-Diamond Anemia
Elevated red cell adenosine deaminase level, Erythroid hypoplasia, Atrial septal defect, Pure red... ORPHA:124
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Decreased hemoglobin concentration, Myoglo... ORPHA:713
Riddle Syndrome
Decreased circulating IgG level, Pulmonary fibrosis OMIM:611943
Combined Oxidative Phosphorylation Deficiency 33
Elevated hepatic transaminase, Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Nephroti... OMIM:617713
Hypermanganesemia With Dystonia 1
Cirrhosis, Increased total iron binding capacity, Elevated hepatic transaminase, Polycythemia, He... OMIM:613280
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Autoimmune thrombocytopenia, Autoimmune hemolytic a... OMIM:613011
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Inflammation of the large intestine, Chronic gastritis, Dysphagia, Colitis, Diarrhea, Eczema, Art... OMIM:608809
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Ciliary dyskinesia, Atelectasis, Decreased nasal nitric oxide, Recurrent respirat... OMIM:615872
Ciliary Dyskinesia, Primary, 3
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Neonatal respira... OMIM:608644
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegal... OMIM:612840
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Polycystic ovaries, Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Prolonged neonatal j... OMIM:224120
Immunodeficiency 64
Increased circulating IgM level, Defective T cell proliferation, Bronchiectasis, Increased circul... OMIM:618534
Erythema Elevatum Diutinum
Increased circulating antibody level, Skin rash ORPHA:90000
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Abnormality of the ureter, Splenomegaly, Ascites, Anemia, Hypoplasia of penis, Hypospadias, Renal... ORPHA:1046
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia, Cholestasis OMIM:609734
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hypersegmentation of neutrophil nuclei, Episodic he... OMIM:601775
Nephronophthisis 19
Nephronophthisis, Cholestasis, Hepatic fibrosis, Hepatomegaly, Stage 5 chronic kidney disease, Sp... OMIM:616217
Neuraminidase Deficiency
Bone-marrow foam cells, Vacuolated lymphocytes, Hepatomegaly, Cardiomegaly, Urinary excretion of ... OMIM:256550
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Biliary tract abnor... ORPHA:79301
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Atrial septal defect, Abnormal heart morphology, Enlarged kidney, Proteinuria, Urinary glycosamin... ORPHA:505248
Familial Pseudohyperkalemia
Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Increased mean corpuscular volume, Hy... ORPHA:90044
Ciliary Dyskinesia, Primary, 11
Abnormal ciliary motility, Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Recurrent res... OMIM:612649
Epilepsy-Telangiectasia Syndrome
Decreased circulating antibody level, Anteverted nares, Decreased circulating IgA level ORPHA:1951
Ciliary Dyskinesia, Primary, 24
Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Rhinitis, Sinusitis OMIM:615481
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F, Reticulocytopenia OMIM:610629
Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:98293
Sickle Cell Anemia
Hemolytic anemia, Hematuria, Leukocytosis, Cholelithiasis, Hepatomegaly, Jaundice, Increased red ... OMIM:603903
Isolated Biliary Atresia
Cirrhosis, Dark yellow urine, Elevated hepatic transaminase, Atretic gallbladder, Periportal fibr... ORPHA:30391
Cholestasis-Lymphedema Syndrome
Abnormality of urine homeostasis, Cirrhosis, Neonatal cholestatic liver disease, Biliary tract ab... ORPHA:1414
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Cystic renal dysplasia, Polysplenia, Pancreatic fibrosis, Hepatic fibrosis, Hepa... OMIM:200995
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Ciliary Dyskinesia, Primary, 36, X-Linked
Bronchiectasis, Cough, Recurrent sinusitis, Neonatal respiratory distress, Recurrent respiratory ... OMIM:300991
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Bronchiectasis, Decreased specific antibody response to vacc... OMIM:614700
Idiopathic Pulmonary Fibrosis
Ground-glass opacification, Reticular pattern on pulmonary HRCT, Bronchiectasis, Pulmonary fibros... ORPHA:2032
Follicular Lymphoma
Mediastinal lymphadenopathy, Abnormality of the peritoneum, Lymphadenopathy, Splenomegaly ORPHA:545
Immunodeficiency 25
Recurrent pneumonia, Increased circulating IgM level, Increased circulating IgE level, Erythroder... OMIM:610163
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Cholestasis, Hepatomegaly, Jaundice, Splenomegaly ORPHA:172
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Neutropenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Anemia, Pancreatitis, Renal insufficie... ORPHA:79312
Ciliary Dyskinesia, Primary, 32
Bronchiectasis, Ciliary dyskinesia, Neonatal respiratory distress, Immotile cilia, Recurrent resp... OMIM:616481
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Enlarged kidney, Focal segmental glomerulosclerosis, Hepatocellula... OMIM:232220
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomega... OMIM:150550
Congenital Disorder Of Glycosylation, Type Iic
Bulbous nose, Bronchiolitis, Recurrent otitis media, Periodontitis, Pneumonia, Reduction of neutr... OMIM:266265
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Abnormality of iron homeostasis, Anemia, Splenomegaly ORPHA:75563
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia, Wide nasal bridge, Depressed nasal bridge OMIM:609528
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Chr... OMIM:618986
Familial Nasal Acilia
Dyspnea, Respiratory distress, Bronchiectasis, Recurrent upper respiratory tract infections, Atel... ORPHA:922
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Recurrent upper and lower respiratory tract infections, Chronic oral candidiasis, Hash... ORPHA:275
Ciliary Dyskinesia, Primary, 26
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Absent outer dyn... OMIM:615500
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Vacuolated lymphocytes, Leukopenia, Anemia, Hypersplenism, Bone-marrow foam... OMIM:278000
Relapsing Fever
Increased total bilirubin, Hematuria, Acute kidney injury, Elevated hepatic transaminase, Leukocy... ORPHA:91547
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgM level, Increased circulating IgE level, Depressed nasal bridge, Bronchi... OMIM:617241
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Cholelithiasis, Jaundice, Anemia of inadequate production, Splenomegaly OMIM:224100
Ciliary Dyskinesia, Primary, 15
Chronic sinusitis, Wheezing, Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Abnormal... OMIM:613808
Ciliary Dyskinesia, Primary, 41
Recurrent otitis media, Impaired nasal mucociliary clearance, Recurrent sinusitis, Bronchiectasis OMIM:618449
Immunodeficiency 46
Decreased circulating antibody level, Conjunctivitis, Chronic oral candidiasis, Recurrent sinopul... OMIM:616740
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly OMIM:611721
Ciliary Dyskinesia, Primary, 45
Bronchiectasis, Absent inner and outer dynein arms, Immotile cilia, Chronic rhinitis, Recurrent r... OMIM:618801
Leishmaniasis
Elevated hepatic transaminase, Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, He... ORPHA:507
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypercholesterolemia, Cirrhosis, Elevated hepatic transaminase, Abnormal heart morphology, Hepato... ORPHA:370
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Enlarged kidney, Focal segmental glomerulosclerosis, Hepatocellula... OMIM:232200
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infections OMIM:251190
Hurler-Scheie Syndrome
Abnormal heart valve morphology, Hepatomegaly, Splenomegaly, Abnormality of the tonsils, Cardiomy... ORPHA:93476
16Q24.3 Microdeletion Syndrome
Cryptorchidism, Ventricular septal defect, Thrombocytopenia, Dilated cardiomyopathy, Increased me... ORPHA:261250
Beckwith-Wiedemann Syndrome
Cryptorchidism, Renal cortical cysts, Enlarged kidney, Gonadoblastoma, Cardiomyopathy, Hepatomega... OMIM:130650
Rhabdoid Tumor
Renal neoplasm, Hematuria, Neoplasm of the liver, Thrombocytopenia, Hypercalcemia, Anemia, Lympha... ORPHA:69077
Surfactant Metabolism Dysfunction, Pulmonary, 2
Bronchiectasis, Interstitial pneumonitis, Cough, Respiratory insufficiency, Pulmonary arterial hy... OMIM:610913
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function OMIM:267500
Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive
Increased circulating IgE level, Bronchiectasis, Recurrent otitis media, Keratitis, Eczema, Recur... OMIM:618523
Cold Agglutinin Disease
Abnormal urinary color, Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:56425
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Elliptocytosis, Hepatocellular necrosis, Reticulocytosis, Hepatomegaly,... OMIM:618278
Schnitzler Syndrome
Leukocytosis, Hepatomegaly, Anemia, Splenomegaly, Lymphadenopathy ORPHA:37748
Coproporphyria, Hereditary
Hepatomegaly, Jaundice, Splenomegaly, Increased urinary porphobilinogen, Elevated urinary delta-a... OMIM:121300
Sandhoff Disease
Hepatomegaly, Splenomegaly ORPHA:796
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Skin rash, Chronic oral candidiasis, Recurrent bacterial skin infections, Cough, Pneumonia, Recur... ORPHA:276
Agammaglobulinemia, X-Linked
Prostatitis, Epididymitis, Pyoderma, Pneumonia, Septic arthritis, Enteroviral hepatitis, Conjunct... OMIM:300755
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Cirrhosis, Hepatomegaly, Jaundice, Hypertriglyceridemia, Hepatic failure, S... ORPHA:75234
T-Cell Immunodeficiency With Thymic Aplasia
Bronchiectasis, Eczematoid dermatitis, Emphysema, Pyoderma, Recurrent bronchopulmonary infections... OMIM:242700
Wiskott-Aldrich Syndrome, Autosomal Dominant
Inflammation of the large intestine, Increased circulating IgE level, Decreased specific anti-pol... OMIM:600903
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Increased blood urea nitrogen, Enlarged kidney, Membranoproliferative ... ORPHA:251004
Complement Factor B Deficiency
Peritonitis, Decreased serum complement factor B, Pneumonia OMIM:615561
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Hepatomegaly, Hepatic failure, Splenomegaly OMIM:616719
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Cholestasis, Benign Recurrent Intrahepatic, 2
Intrahepatic cholestasis, Conjugated hyperbilirubinemia, Cholelithiasis, Hepatomegaly, Jaundice OMIM:605479
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Esophagitis, Eosinophilic microabscess formation in the esophagus, Allergic rhinitis, Atopic derm... ORPHA:411696
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Glomerulonephritis, Increased circulating IgA level OMIM:314000
Carnitine Deficiency, Systemic Primary
Decreased plasma carnitine, Elevated hepatic transaminase, Endocardial fibroelastosis, Hepatic st... OMIM:212140
Ciliary Dyskinesia, Primary, 34
Reduced respiratory ciliary beating frequency, Recurrent bronchitis, Bronchiectasis, Recurrent si... OMIM:617091
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Renal tubular acidosis, Cardiomeg... OMIM:255120
Omenn Syndrome
Severe B lymphocytopenia, Hypoproteinemia, Thrombocytopenia, Hypoplasia of the thymus, Hepatomega... OMIM:603554
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Cystic Fibrosis
Decreased circulating antibody level, Recurrent respiratory infections, Pulmonary fibrosis ORPHA:586
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Hepatomegaly, Splenomegaly, Abnormal mast cell morpholo... ORPHA:98848
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Chilblain Lupus
Skin rash, Increased circulating antibody level, Discoid lupus rash, Malar rash, Asthma, Inflamma... ORPHA:90280
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Autoimmune hemolytic anemia, Abnormally lo... OMIM:619374
Lipodystrophy, Congenital Generalized, Type 3