Gene Summary

Name:
topoisomerase (DNA) III beta
Synonyms:
Topo III beta

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

Select physiological systems to view:
Viewing: all phenotypes

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.

Legacy Phenotype Associated Images

View all 183 images

Human diseases caused by Top3b 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 Top3b by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Crohn's disease, Diarrhea, Bronchiectasis, Arthritis, Eczema, Lymphocytic inf... OMIM:616100
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Immunodeficiency 104
Gastroesophageal reflux, Oral ulcer, Diarrhea, T lymphocytopenia, Eczema, Recurrent otitis media,... OMIM:608971
Idiopathic Non-Lupus Full-House Nephropathy
Oral ulcer, Nephrotic syndrome, Acute kidney injury, Skin rash, Arthritis, Synovitis, Serositis, ... ORPHA:567544
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of marginal zone B cells, Coombs-positive hemolytic anemia, Thyroiditis, Aut... OMIM:619375
Complement Component 3 Deficiency, Autosomal Recessive
Nephrotic syndrome, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Renal insuffic... OMIM:613779
Mixed Connective Tissue Disease
Gastroesophageal reflux, Abnormal pulmonary interstitial morphology, Leukopenia, Hemolytic anemia... ORPHA:809
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Female hypogonadism, Asplenia, Hypothyroidism, Atrophic gastritis, Enamel hypoplasia, Chronic ora... OMIM:240300
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent sinusitis, Generalized lymphadenopathy, Hepatosplenomegaly, Hepatomegaly, Splenomegaly,... OMIM:615559
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypothyroidism, Crusting erythematous dermatitis, Eczema, Myositis, Abnormal intestine morphology... ORPHA:37042
C3 Glomerulopathy 3
Mesangial matrix expansion, Stage 5 chronic kidney disease, Thickening of glomerular capillary wa... OMIM:614809
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, Diarrhea, Bronchiectasis, Perianal abscess, T lymphocytopenia,... OMIM:618108
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenitis, Oral ulcer, Crohn's disease, Perianal abscess, Hemolytic anemia, Nephrotic syndrom... OMIM:618935
Immunodeficiency, Common Variable, 8, With Autoimmunity
Hypothyroidism, Bronchiectasis, Recurrent sinusitis, Generalized lymphadenopathy, Chronic diarrhe... OMIM:614700
Melioidosis
Septic arthritis, Respiratory tract infection, Prostatitis, Abnormal parotid gland morphology, He... ORPHA:31202
Immunodeficiency 51
Recurrent cutaneous fungal infections, Chronic oral candidiasis, Recurrent respiratory infections... OMIM:613953
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Nephrotic syndrome, Podocyte foot process effacement, Minimal change glo... OMIM:617006
Immunodeficiency 91 And Hyperinflammation
Hemolytic-uremic syndrome, Abnormal pulmonary interstitial morphology, Intermittent diarrhea, Pul... OMIM:619644
Nephrotic Syndrome, Type 7
Hemolytic-uremic syndrome, Hemolytic anemia, Nephrotic syndrome, Acute kidney injury, Stage 5 chr... OMIM:615008
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Bronchiectasis, Recurrent sinusitis, Recurrent sinopulmonary infections, Recu... OMIM:616576
Kerion Celsi
Recurrent skin infections, Recurrent cutaneous abscess formation, Lymphadenopathy, Inflammatory a... ORPHA:499
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Minimal change glomerulonephritis, Proteinuria, Mesangial hyper... OMIM:619201
Autoinflammatory-Pancytopenia Syndrome
Hepatic fibrosis, Cholestatic liver disease, Chilblains, Membranoproliferative glomerulonephritis... OMIM:619858
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Megaloblastic anemia, Diarrhea, Shawl scrotum, Nephrotic syndrome, Abnormal erythrocyte morpholog... ORPHA:2575
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Renal insufficiency, Glomerular deposits, Nephrotic syndrome ORPHA:69063
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Glomerulonephritis, Autoimmune hemolytic anemia, Plasmacytosis, Pneumonia OMIM:247800
Nephrotic Syndrome, Type 10
Steroid-resistant nephrotic syndrome, Minimal change glomerulonephritis, Podocyte foot process ef... OMIM:615861
Kimura Disease
Lymphadenopathy, Follicular hyperplasia, Abnormal salivary gland morphology, Eosinophilia ORPHA:482
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Cleft upper lip, Atrophic gastritis, Cleft palate OMIM:137215
Autoimmune Polyendocrinopathy Type 4
Biliary cirrhosis, Keratoconjunctivitis sicca, Primary adrenal insufficiency, Celiac disease, Gra... ORPHA:227990
Autoimmune Polyendocrinopathy Type 3
Biliary cirrhosis, Keratoconjunctivitis sicca, Primary adrenal insufficiency, Celiac disease, Gra... ORPHA:227982
Immunodeficiency, Common Variable, 6
Nephrotic range proteinuria, Stage 5 chronic kidney disease, Enlarged kidney, Mesangial Immune co... OMIM:613496
Inflammatory Bowel Disease (Crohn Disease) 30
Bloody diarrhea, Vomiting, Pancolitis, Ileitis, Abnormal intestine morphology, Gastritis, Chronic... OMIM:619079
Autoimmune Lymphoproliferative Syndrome
Coombs-positive hemolytic anemia, Hepatocellular carcinoma, Reticulocytosis, Glomerulonephritis, ... ORPHA:3261
Autoinflammation, Immune Dysregulation, And Eosinophilia
Hypothyroidism, Nephrotic syndrome, Hepatosplenomegaly, Eosinophilic liver infiltration, Colonic ... OMIM:618999
Zygomycosis
Pneumothorax, Diarrhea, Fasciitis, Pericarditis, Pleural effusion, Gastritis, Colitis, Hematemesi... ORPHA:73263
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Hypothyroidism, Anemia, Chronic diarrhea, Villous atrophy, Hepatitis, Arthritis, Coombs-positive ... OMIM:304790
Focal Segmental Glomerulosclerosis 10
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuria, Renal insufficien... OMIM:256020
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Bronchiectasis, Viral hepatitis, Celiac disease, Psoriasiform dermatitis, Pneumonia, Atopic derma... ORPHA:183675
Familial Mediterranean Fever
Diarrhea, Peritonitis, Pericarditis, Intestinal obstruction, Splenomegaly, Skin rash, Arthritis, ... ORPHA:342
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology, Infertility OMIM:136580
Cach Syndrome
Vomiting, Secondary amenorrhea, Premature ovarian insufficiency, Hepatosplenomegaly, Optic neurit... ORPHA:135
Lipodystrophy, Partial, Acquired, Susceptibility To
Nephrotic syndrome, Hematuria, Membranoproliferative glomerulonephritis, Hepatic steatosis, Polyc... OMIM:608709
Legionnaires Disease
Endocarditis, Splenomegaly, Abnormal pleura morphology, Renal insufficiency, Diarrhea, Hepatitis,... ORPHA:549
Congenital Pancreatic Cyst
Jaundice, Vomiting, Pancreatitis ORPHA:313906
Nephrotic Syndrome, Type 16
Proteinuria, Minimal change glomerulonephritis, Hematuria, Nephrotic syndrome OMIM:617783
Omenn Syndrome
Hypothyroidism, Anemia, Chronic diarrhea, Nephrotic syndrome, Thyroiditis, Lymphadenopathy, Hepat... ORPHA:39041
Chylous Ascites
Ascites, Abnormal intestine morphology, Pancreatitis ORPHA:1160
Igg4-Related Submandibular Gland Disease
Retroperitoneal fibrosis, Renal insufficiency, Prostatitis, Abnormality of the kidney, Enlarged l... ORPHA:449432
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Arthritis, Hemosiderin-laden ma... OMIM:616414
Systemic Lupus Erythematosus
Malar rash, Leukopenia, Hemolytic anemia, Arthritis, Pleuritis, Nephritis, Pericarditis, Lupus ne... OMIM:152700
Drug Reaction With Eosinophilia And Systemic Symptoms
Tubulointerstitial nephritis, Renal insufficiency, Nephrotic syndrome, Hepatitis, Skin rash, Thyr... ORPHA:139402
Familial Reactive Perforating Collagenosis
Perifolliculitis, Abnormality of the dentition, Inflammatory abnormality of the skin, Crusting er... ORPHA:79147
Immunodeficiency 82 With Systemic Inflammation
Diarrhea, Bronchiectasis, T lymphocytopenia, Gastritis, Colitis, Recurrent skin infections, Pneum... OMIM:619381
Familial Partial Lipodystrophy, Köbberling Type
Hepatic steatosis, Polycystic ovaries, Pancreatitis, Hepatomegaly ORPHA:79084
Ménétrier Disease
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Stomach cancer, Vomiting, Diarrhea, ... ORPHA:2494
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hypothyroidism, Decreased CD4:CD8 ratio, Chronic diarrhea, Chronic oral candidiasis, Villous atro... OMIM:606367
Familial Partial Lipodystrophy, Dunnigan Type
Glomerulopathy, Splenomegaly, Secondary amenorrhea, Advanced eruption of teeth, Hepatic steatosis... ORPHA:2348
Variant Abeta2M Amyloidosis
Intestinal perforation, Abnormality of the tongue, Abnormal salivary gland morphology, Gastrointe... ORPHA:314652
Tubulointerstitial Nephritis With Uveitis
Non-caseating epithelioid cell granulomatosis, Acute tubulointerstitial nephritis, Uveitis, Glome... OMIM:607665
Sézary Syndrome
Abnormal pleura morphology, Lymphadenopathy, Hepatomegaly, Erythroderma, Pruritus, Splenomegaly, ... ORPHA:3162
Igg4-Related Kidney Disease
Nephrotic range proteinuria, Prostatitis, Sclerosing cholangitis, Pericarditis, Renal interstitia... ORPHA:449395
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anemia, Renal insufficiency, Pancreatitis, Hepatomegaly, Thrombocytopenia, Neutropenia, Splenomegaly ORPHA:79312
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
Rat-Bite Fever
Lymphadenitis, Septic arthritis, Endocarditis, Oligoarthritis, Vomiting, Diarrhea, Maculopapular ... ORPHA:31205
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Diarrhea, Hepatitis, Decreased proportion of CD3-positive T cells, Prot... ORPHA:169160
Nephrotic Syndrome, Type 15
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Minimal change glomerulonep... OMIM:617609
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Glomerulonephritis, High palate, Chronic kidney disease ORPHA:2172
Microsporidiosis
Prostatitis, Biliary tract abnormality, Myositis, Chronic diarrhea, Decreased proportion of CD4-p... ORPHA:2552
Genetic Steroid-Resistant Nephrotic Syndrome
Respiratory tract infection, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, F... ORPHA:656
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Respiratory tract infection, Hemolytic anemia, Hepatitis, Recurrent otitis media, Lymphopenia, Au... ORPHA:444463
C1Q Deficiency 1
Membranoproliferative glomerulonephritis OMIM:613652
Pparg-Related Familial Partial Lipodystrophy
Primary amenorrhea, Splenomegaly, Cirrhosis, Secondary amenorrhea, Hepatic steatosis, Polycystic ... ORPHA:79083
Linear Atrophoderma Of Moulin
Pruritus, Inflammatory abnormality of the skin ORPHA:140933
Galloway-Mowat Syndrome 7
Renal tubular atrophy, IgA deposition in the glomerulus, High palate, Nephrotic syndrome, Stage 5... OMIM:618348
Systemic Lupus Erythematosus 16
Lupus nephritis OMIM:614420
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Adrenal insufficiency, Lacticaciduria, Hepatic steatosis, Renal insufficiency, Pan... OMIM:619386
Benign Cephalic Histiocytosis
Skin rash, Histiocytosis, Inflammatory abnormality of the skin ORPHA:157997
Nephrotic Syndrome, Type 11
Renal tubular atrophy, IgA deposition in the glomerulus, High palate, Nephrotic syndrome, Stage 5... OMIM:616730
Immunodeficiency 48
Diarrhea, Recurrent respiratory infections, Absence of CD8-positive T cells, Hepatomegaly, Eczema... OMIM:269840
Al Amyloidosis
Abnormal pulmonary interstitial morphology, Howell-Jolly bodies, Abnormality of the liver, Anemia... ORPHA:85443
Cystic Echinococcosis
Abnormal subpleural morphology, Peritoneal abscess, Abnormality of the pancreas, Abnormality of t... ORPHA:400
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Oral ulcer, Chronic diarrhea, T lymphocytopenia, Decreased proportion of CD4-positive helper T ce... ORPHA:169154
Idiopathic Pulmonary Hemosiderosis
Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Hepatosplenomegaly, Reticular pat... ORPHA:99931
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Vomiting, Recurrent upper respiratory tract infections, Diarrhea, Pancreatitis OMIM:620137
Lymphoproliferative Syndrome, X-Linked, 2
Erythema nodosum, Hepatitis, Folliculitis, Pancytopenia, Inflammation of the large intestine, Col... OMIM:300635
Galloway-Mowat Syndrome 2, X-Linked
High palate, Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephriti... OMIM:301006
Lymphatic Filariasis
Lymphadenitis, Vaginal hydrocele, Abnormality of the scrotum, Lymphangiectasis, Hypereosinophilia... ORPHA:2035
Hyperparathyroidism 2 With Jaw Tumors
Pancreatic adenocarcinoma, Recurrent pancreatitis, Nephroblastoma, Parathyroid adenoma, Papillary... OMIM:145001
Cap Polyposis
Atrophic gastritis, Colorectal polyposis, Diarrhea, Constipation, Hematochezia ORPHA:160148
Aicardi-Goutieres Syndrome 7
Hypothyroidism, Bloody diarrhea, Diarrhea, Generalized lymphadenopathy, Hepatic steatosis, Hepato... OMIM:615846
Proteasome-Associated Autoinflammatory Syndrome 5
Skin rash, Splenomegaly, Hepatomegaly OMIM:619175
Idiopathic Steroid-Resistant Nephrotic Syndrome
Respiratory tract infection, Abnormal urine output, Acute kidney injury, Stage 5 chronic kidney d... ORPHA:567548
Benign Recurrent Intrahepatic Cholestasis
Cholelithiasis, Cirrhosis, Cholestatic liver disease, Jaundice, Hepatocellular carcinoma, Acholic... ORPHA:65682
Autoimmune Hepatitis
Cirrhosis, Fulminant hepatitis, Arthritis, Sclerosing cholangitis, Thyroiditis, Hepatocellular ca... ORPHA:2137
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Reduced natural killer cell count, Oral ulcer, Diarrhea, Perianal abscess, Skin rash, Chronic con... OMIM:301074
Pauci-Immune Glomerulonephritis
Tubulointerstitial nephritis, Nephrotic range proteinuria, Pulmonary hemorrhage, Oral ulcer, Scle... ORPHA:93126
Lipase Deficiency, Combined
Pancreatitis OMIM:246650
Mitochondrial Complex I Deficiency, Nuclear Type 8
Pancreatitis, Dysphagia OMIM:618230
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Anemia, Thrombocytopenia, Hepatomegaly, Renal insufficiency, Neutropenia, Pancreatitis, Renal tub... ORPHA:289916
Brucellosis
Sacroiliac arthritis, Septic arthritis, Hip osteoarthritis, Pericarditis, Glomerulonephritis, Ple... ORPHA:1304
Syndromic Diarrhea
Hypothyroidism, Bloody diarrhea, Hepatic fibrosis, Hypoplasia of the thymus, Abnormality of the l... ORPHA:84064
Immunodeficiency 85 And Autoimmunity
Oligoarthritis, Reduced natural killer cell count, Vomiting, Chronic diarrhea, T lymphocytopenia,... OMIM:619510
Primary Lipodystrophy
Splenomegaly, Cirrhosis, Hepatic steatosis, Polycystic ovaries, Menometrorrhagia, Pancreatitis ORPHA:90970
Pityriasis Rubra Pilaris
Abnormal oral cavity morphology, Eczema, Pustule, Erythroderma, Pruritus ORPHA:2897
Familial Hemophagocytic Lymphohistiocytosis
Anemia, Erythroderma, Neutropenia, Cholestatic liver disease, Skin rash, Jaundice, Abnormal renal... ORPHA:540
Omenn Syndrome
Anemia, Hypoplasia of the thymus, Diarrhea, B lymphocytopenia, Severe B lymphocytopenia, Lymphade... OMIM:603554
Alpha-Heavy Chain Disease
Anemia, Malabsorption, Premature ovarian insufficiency, Lymphadenopathy, Hepatomegaly, Abnormal s... ORPHA:100025
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Glomerulonephritis, Thrombocytopenia, Hematuria OMIM:314000
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Proteinuria, Hematuria, Membranoproliferative glomerulonephritis, Nephrotic syndrome OMIM:613913
C3 Glomerulopathy
Glomerular extracapillary hypercellularity, Nephrotic syndrome, Acute kidney injury, Stage 5 chro... ORPHA:329918
Immunodeficiency 75 With Lymphoproliferation
Bronchiectasis, Hepatosplenomegaly, Lymphadenopathy, Follicular hyperplasia, Decreased proportion... OMIM:619126
Nephrotic Syndrome, Type 6
Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuri... OMIM:614196
Cholestasis, Benign Recurrent Intrahepatic, 1
Intermittent jaundice, Hepatomegaly, Pruritus, Intrahepatic cholestasis with episodic jaundice, P... OMIM:243300
Diffuse Cutaneous Mastocytosis
Vomiting, Erythroderma, Diarrhea, Abnormality of the liver, Pruritus, Lymphocytosis, Lymphadenopa... ORPHA:79456
Microscopic Polyangiitis
Glomerulopathy, Renal insufficiency, Diarrhea, Skin rash, Arthritis, Hematuria, Uveitis, Pericard... ORPHA:727
Immunodeficiency 76
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Recurrent pneumonia, Lymphadenopathy, Colitis,... OMIM:619164
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Long philtrum, Nephrotic syndrome, Chronic constipation, Glomerular sclerosis, Glomerulonephritis... OMIM:619428
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly, Abnormality of the gastrointestinal tract ORPHA:52416
Sarcoidosis, Susceptibility To, 1
Abnormal pulmonary interstitial morphology, Bronchiectasis, Iridocyclitis, Arthritis, Generalized... OMIM:181000
Coccidioidomycosis
Exudative pleural effusion, Abnormality of the bladder, Pericarditis, Panniculitis, Eosinophilia,... ORPHA:228123
Mccune-Albright Syndrome
Precocious puberty, Abnormal testis morphology, Hyperphosphaturia, Hyperplasia of the Leydig cell... ORPHA:562
Behçet Disease
Glomerulopathy, Keratoconjunctivitis sicca, Pericarditis, Myositis, Retrobulbar optic neuritis, P... ORPHA:117
Glycogen Storage Disease Ib
Splenomegaly, Oral ulcer, Neutropenia, Enlarged kidney, Hepatocellular carcinoma, Gout, Inflammat... OMIM:232220
Pfapa Syndrome
Abnormal oral cavity morphology, Malabsorption, Arthritis, Recurrent pharyngitis, Lymphadenopathy... ORPHA:42642
Hemochromatosis, Type 2A
Cirrhosis, Arthritis, Infertility, Azoospermia, Hepatomegaly, Hypogonadotropic hypogonadism, Sple... OMIM:602390
Systemic Sclerosis
Abnormal large intestine morphology, Abnormal stomach morphology, Pericarditis, Glomerulonephriti... ORPHA:90291
Systemic Capillary Leak Syndrome
Diarrhea, Pulmonary edema, Abnormal renal tubule morphology, Pericarditis, Pleural effusion, Olig... ORPHA:188
Pgm3-Cdg
T lymphocytopenia, Bronchiectasis, Eczema, Bone marrow hypocellularity, Eosinophilia, Decreased p... ORPHA:443811
Complement Factor I Deficiency
Septic arthritis, Recurrent urinary tract infections, Pyelonephritis, Recurrent sinusitis, Recurr... OMIM:610984
Bacterial Toxic-Shock Syndrome
Septic arthritis, Diarrhea, Fasciitis, Myositis, Glomerulonephritis, Recurrent skin infections, T... ORPHA:36234
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Stage 5 chronic kidney disease, Supernumerary nipple, Chronic tubulointerstitial nephritis, Glome... OMIM:614376
Complement Component 4A Deficiency
Glomerulonephritis OMIM:614380
Igg4-Related Ophthalmic Disease
Abnormality of the anterior pituitary, Sialadenitis, Retroperitoneal fibrosis, Prostatitis, Abnor... ORPHA:449563
Cidec-Related Familial Partial Lipodystrophy
Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Oligomenorrhea, Pancreatitis ORPHA:435651
Cystic Fibrosis
Meconium ileus, Biliary cirrhosis, Cirrhosis, Diarrhea, Bronchiectasis, Recurrent bronchopulmonar... OMIM:219700
Igg4-Related Retroperitoneal Fibrosis
Impotence, Psoriasiform dermatitis, Retrograde ejaculation, Acute kidney injury, Normocytic anemi... ORPHA:49041
Cheilitis Glandularis
Thick lower lip vermilion, Abnormal salivary gland morphology ORPHA:1221
Alopecia-Intellectual Disability Syndrome 4
Bilateral cryptorchidism, Micropenis, Hypospadias, Erythroderma OMIM:618840
Schimke Immuno-Osseous Dysplasia
Nephrotic range proteinuria, Anemia, Neutropenia, Abnormality of thyroid physiology, Stage 5 chro... ORPHA:1830
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatic steatosis, Hepatomegaly, Chronic diarrhea, Pancreatitis, Microcytic anemia OMIM:618805
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenitis, Vesicoureteral reflux, Hepatic fibrosis, Anemia, Erythroderma, Eczema, Inflammatio... OMIM:615895
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Hypothyroidism, Hypogonadism, Iridocyclitis, Infertility, Oligomenorrhea, Dysphagia, Pancreatitis... ORPHA:412057
Vitamin B12-Unresponsive Methylmalonic Acidemia
Leukopenia, Anemia, Thrombocytopenia, Hepatomegaly, Macrocytic anemia, Renal insufficiency, Pancr... ORPHA:27
Chronic Actinic Dermatitis
Late onset atopic dermatitis, Allergic rhinitis, Eczema, Erythroderma, Pruritus ORPHA:330064
Actinic Prurigo
Pyoderma, Cheilitis, Glomerulonephritis OMIM:174770
Gastritis, Familial Giant Hypertrophic
Giant hypertrophic gastritis OMIM:137280
Propionic Acidemia
Anemia, Vomiting, Eczema, Pancytopenia, Increased level of hippuric acid in urine, Constipation, ... OMIM:606054
Peripheral Primitive Neuroectodermal Tumor
Anemia, Precocious puberty, Pelvic mass, Pruritus, Neoplasm of the pancreas, Jaundice, Neoplasm o... ORPHA:370348
Immunodeficiency 58
Molluscum contagiosum, Recurrent aphthous stomatitis, Chronic diarrhea, Chronic bronchitis, Bronc... OMIM:618131
Mahvash Disease
Recurrent pancreatitis, Pancreatic alpha-cell hyperplasia OMIM:619290
Lamellar Ichthyosis
Pruritus, Everted lower lip vermilion, Erythroderma, Renal insufficiency, Recurrent respiratory i... ORPHA:313
Immunodeficiency 42
Recurrent cutaneous fungal infections, Recurrent aphthous stomatitis, Hypoplasia of the thymus, C... OMIM:616622
Intellectual Developmental Disorder, Fra12A Type
Recurrent lower respiratory tract infections, Erythroderma OMIM:136630
Amyloidosis, Familial Visceral
Nephrotic syndrome, Skin rash, Hematuria, Nephropathy, Cholestasis, Hepatomegaly, Proteinuria, Sp... OMIM:105200
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis OMIM:305800
Familial Cold Autoinflammatory Syndrome 2
Recurrent aphthous stomatitis, Erythema nodosum, Arthritis, Skin rash, Lymphadenopathy, Leukocyto... OMIM:611762
Aicardi-Goutieres Syndrome 9
Hypothyroidism, Hepatosplenomegaly, Pericarditis, Hepatic steatosis, Hepatomegaly, Hepatic fibros... OMIM:619487
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Abnormal pulmonary interstitial morphology, Anemia, Recurrent sinusitis, Hepatosplenomegaly, Lymp... OMIM:613101
Igg4-Related Thyroid Disease
Hypothyroidism, Sialadenitis, Retroperitoneal fibrosis, Nodular goiter, Sclerosing cholangitis, T... ORPHA:64744
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Chronic bronchitis, Bronchiectasis, Hepatocellular carcinoma, Gastric varix, Panacinar... OMIM:613490
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
T lymphocytopenia, Bronchiectasis, Increased proportion of transitional B cells, Recurrent sinopu... OMIM:615513
Netherton Syndrome
Aminoaciduria, Malabsorption, Skin rash, Eczema, Emphysema, Ectopic kidney, Erythroderma, Recurre... ORPHA:634
Trimethylaminuria
Anemia, Trimethylaminuria, Recurrent pneumonia, Neutropenia, Splenomegaly OMIM:602079
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Tubulointerstitial nephritis, Leukopenia, Vomiting, Stage 5 chronic kidney disease, Thrombocytope... OMIM:251000
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypothyroidism, Gingivitis, Diarrhea, Hepatocellular carcinoma, Hepatic steatosis, Hepatomegaly, ... ORPHA:79259
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD4:CD8 ratio, Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis, Recurrent oti... OMIM:300853
Familial Male-Limited Precocious Puberty
Macroorchidism, Precocious puberty, Long penis, Oligospermia, Male infertility, Acne ORPHA:3000
Idiopathic Hypereosinophilic Syndrome
Eczema, Generalized lymphadenopathy, Hepatosplenomegaly, Pleural effusion, Eosinophilia, Chronic ... ORPHA:3260
Neutropenia, Severe Congenital, 9, Autosomal Dominant
3-Methylglutaconic aciduria, Splenomegaly OMIM:619813
Hemophagocytic Lymphohistiocytosis, Familial, 4
Conjunctivitis, Anemia, Skin rash, Jaundice, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Thr... OMIM:603552
Granulomatosis With Polyangiitis
Glomerulopathy, Prostatitis, Inflammatory abnormality of the eye, Pericarditis, Intestinal obstru... ORPHA:900
Blau Syndrome
Anemia, Abnormality of the liver, Iridocyclitis, Erythema nodosum, Skin rash, Stage 5 chronic kid... ORPHA:90340
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Abnormal salivary gland morphology ORPHA:3225
Thymoma
Neoplasm of the gastrointestinal tract, Rheumatoid arthritis, Pure red cell aplasia, Ulcerative c... ORPHA:99867
Inflammatory Skin And Bowel Disease, Neonatal, 1
Bloody diarrhea, Villous atrophy, Pustule, Erythroderma, Blepharitis, Duodenitis OMIM:614328
Cyclic Neutropenia
Gingivitis, Respiratory tract infection, Oral ulcer, Enterocolitis, Perianal abscess, Periodontit... ORPHA:2686
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Decreased CD4:CD8 ratio, Hemolytic anemia, Villous atrophy, Necrotizing enter... OMIM:619573
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Bronchiectasis, Neutropenia in presence of anti-neutropil antibodies, Recurrent otitis media, Flu... OMIM:619220
Igg4-Related Pachymeningitis
Lymphadenitis, Nephritis, Abnormal lung morphology, Sinusitis, Parotitis, Eosinophilia, Dysphagia... ORPHA:449427
Primary Sjögren Syndrome
Biliary cirrhosis, Chronic active hepatitis, Keratoconjunctivitis sicca, Myositis, Glomerulonephr... ORPHA:289390
Stevens-Johnson Syndrome
Conjunctivitis, Abnormal pleura morphology, Esophageal stricture, Anemia, Diarrhea, Dysuria, Abno... ORPHA:36426
Igg4-Related Dacryoadenitis And Sialadenitis
Tubulointerstitial nephritis, Retroperitoneal fibrosis, Nodular goiter, Thyroiditis, Keratoconjun... ORPHA:79078
Gallbladder Disease 1
Hepatic fibrosis, Cholesterol gallstones, Jaundice, Portal inflammation, Cholangitis, Cholecystit... OMIM:600803
Bullous Impetigo
Septic arthritis, Recurrent bacterial skin infections, Glomerulopathy, Pustule, Abnormality of th... ORPHA:36237
Immunodeficiency 52
Bronchiectasis, Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, Ly... OMIM:617514
Caroli Syndrome
Cholangiocarcinoma, Hepatomegaly, Hematemesis, Abnormality of the ductus choledochus, Thrombocyto... ORPHA:480520
Leukocyte Adhesion Deficiency
Hemolytic-uremic syndrome, Acute myeloid leukemia, Gingivitis, Perianal abscess, Bronchiectasis, ... ORPHA:2968
Sarcoidosis, Susceptibility To, 2
Abnormal pulmonary interstitial morphology, Pneumothorax, Bronchiectasis, Erythema nodosum, Uveit... OMIM:612387
Immunodeficiency, Common Variable, 2
Conjunctivitis, Diarrhea, Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis, Recurrent ot... OMIM:240500
Immunodeficiency 27A
Anemia, Diarrhea, Hepatosplenomegaly, Lymphadenopathy, Histiocytosis, Pneumonia, Thrombocytosis, ... OMIM:209950
Bullous Diffuse Cutaneous Mastocytosis
Pruritus, Cutaneous mastocytosis, Erythroderma ORPHA:280785
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Argininosuccinic aciduria, Ballooning hepatocyte degeneration, Hepatocellular c... OMIM:603471
Isolated Agammaglobulinemia
Anemia, Diarrhea, Recurrent respiratory infections, Malabsorption, Skin rash, Inflammatory abnorm... ORPHA:229717
Hereditary Amyloidosis With Primary Renal Involvement
Abnormal lymph node morphology, Renal tubular atrophy, Diarrhea, Abnormal testis morphology, Hepa... ORPHA:85450
Brooke-Spiegler Syndrome
Abnormality of the submandibular glands, Abnormality of the sublingual glands, Salivary gland neo... ORPHA:79493
Ethylene Glycol Poisoning
Vomiting, Pulmonary edema, Decreased urine output, Renal tubular epithelial necrosis, Hematuria, ... ORPHA:31826
Immunodeficiency 23
Esophageal stricture, High palate, Neutropenia, Bronchiectasis, Allergic rhinitis, Hemolytic anem... OMIM:615816
Combined Immunodeficiency Due To Zap70 Deficiency
Abnormal lymph node morphology, Hepatosplenomegaly, Eosinophilia, Colitis, Chronic diarrhea, Pneu... ORPHA:911
Lipodystrophy, Familial Partial, Type 1
Acute pancreatitis, Hepatomegaly OMIM:608600
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Diarrhea, T lymphocytopenia, Inflammatory abnormality of the skin, B lymphocytopenia, Recurrent o... ORPHA:277
Immunodeficiency 69
Anemia, Diarrhea, Skin rash, Pancytopenia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Sple... OMIM:618963
Immunodeficiency, Common Variable, 1
Conjunctivitis, Diarrhea, Bronchiectasis, B lymphocytopenia, Neutropenia in presence of anti-neut... OMIM:607594
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Eczema, Recurrent sinopulmonary infections, Lymphadenopathy, Chronic dia... OMIM:607271
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent aphthous stomatitis, Chronic oral candidiasis, Diarrhea, Bronchiectasis, B lymphocytope... OMIM:150550
Indolent Systemic Mastocytosis
Skin rash, Mastocytosis, Lymphadenopathy, Increased proportion of CD25+ mast cells, Hepatomegaly,... ORPHA:98848
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Anemia, Aplasia/Hypoplasia of the lungs, Renal hypoplasia/aplasia, Hypoplasia of penis, Hypospadi... ORPHA:1046
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Thick vermilion border, Pulmonary lymphangiectasia, Hydrocele testis, Membranoproliferative glome... OMIM:137940
Tularemia
Conjunctivitis, Anemia, Oral ulcer, Erythema nodosum, Skin rash, Inflammatory abnormality of the ... ORPHA:3392
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Organic aciduria, Aspiration pneumonia, Pancreatitis, Renal tubular acidosis ORPHA:431361
Hyperlipoproteinemia, Type Id
Recurrent pancreatitis, Pancreatitis, Hepatomegaly, Colitis, Splenomegaly OMIM:615947
Pachydermoperiostosis
Peptic ulcer, Anemia, Hyperhidrosis, Osteomyelitis, Neoplasm of the lung, Malabsorption, Arthriti... ORPHA:2796
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Diarrhea, Recurrent urinary tract infections, Recurrent otitis media, Au... OMIM:618495
Classic Mycosis Fungoides
Skin rash, Eczema, Lymphadenopathy, Hepatomegaly, Pruritus, Splenomegaly, Abnormal lymphocyte mor... ORPHA:2584
Kikuchi-Fujimoto Disease
Abnormal lymph node morphology, Generalized lymphadenopathy, Pleural effusion, Hepatomegaly, Cerv... ORPHA:50918
Pancreatitis, Hereditary
Pancreatic pseudocyst, Pancreatic calcification, Steatorrhea, Pleural effusion, Exocrine pancreat... OMIM:167800
Malakoplakia
Pruritus, Diarrhea, Inflammatory abnormality of the skin, Dysuria, Skin rash, Neoplasm of the rec... ORPHA:556
Van Der Woude Syndrome
Cleft upper lip, Lip pit, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... ORPHA:888
Schnitzler Syndrome
Anemia, Arthritis, Skin rash, Lymphadenopathy, Hepatomegaly, Leukocytosis, Pruritus, Splenomegaly ORPHA:37748
Hypocalciuric Hypercalcemia, Familial, Type Ii
Peptic ulcer, Parathormone-independent increased renal tubular calcium reabsorption, Hypocalciuri... OMIM:145981
Immunodeficiency 84
Splenomegaly, Perianal abscess, B lymphocytopenia OMIM:619437
Visceral Myopathy 1
Vesicoureteral reflux, Hydronephrosis, Vomiting, Diarrhea, Urinary retention, Megaduodenum, Agang... OMIM:155310
Primary Sclerosing Cholangitis
Cholangiocarcinoma, Hepatocellular carcinoma, Hepatosplenomegaly, Pleural effusion, Celiac diseas... ORPHA:171
Biotinidase Deficiency
Conjunctivitis, Vomiting, Diarrhea, Skin rash, Organic aciduria, Hepatomegaly, Recurrent skin inf... OMIM:253260
Liver Disease, Severe Congenital
Aminoaciduria, Diarrhea, Eczema, Portal inflammation, Hepatic steatosis, Hepatomegaly, Protein-lo... OMIM:619991
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Hypothyroidism, Achalasia, Desquamative interstitial pneumonitis, Interstitial pneumonitis, Neutr... OMIM:615952
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hyperhidrosis, Lymphadenopathy, Hepatomegaly, Pruritus, Splenomegaly ORPHA:86893
Spondylometaphyseal Dysplasia, Axial
Recurrent pneumonia, Reduced sperm motility, Splenomegaly OMIM:602271
Chronic Granulomatous Disease
Gingivitis, Malabsorption, Liver abscess, Pyloric stenosis, Inflammatory abnormality of the eye, ... ORPHA:379
Adult Acute Respiratory Distress Syndrome
Pneumonia, Pancreatitis, Pulmonary edema ORPHA:70578
Insulin-Resistance Syndrome Type B
Leukopenia, Biliary cirrhosis, Enlarged polycystic ovaries, Glycosuria, Skin rash, Nephritis, Pol... ORPHA:2298
Simple Cryoglobulinemia
Chronic lymphatic leukemia, Abnormality of the gastrointestinal tract, Nephrotic syndrome, Arthri... ORPHA:91139
Immunodeficiency 97 With Autoinflammation
Diarrhea, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Eczema, Hepatosplenomeg... OMIM:619802
Coproporphyria, Hereditary
Vomiting, Diarrhea, Jaundice, Increased fecal coproporphyrin 3, Constipation, Hepatomegaly, Incre... OMIM:121300
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly, Elevated urinary delta-aminolevulinic acid OMIM:206400
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
High palate, Methioninuria, Hepatic steatosis, Dental crowding, Homocystinuria, Pancreatitis OMIM:236200
Congenital Lethal Erythroderma
Malabsorption, Congenital exfoliative erythroderma ORPHA:1954
Citrullinemia Type Ii
Hepatic fibrosis, Vomiting, Diarrhea, Hepatocellular carcinoma, Hepatic steatosis, Hepatomegaly, ... ORPHA:247585
Letterer-Siwe Disease
Anemia, Jaundice, Stomatitis, Hepatosplenomegaly, Thrombocytopenia, Neutropenia, Seborrheic derma... OMIM:246400
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Splenomegaly, Secondary amenorrhea, Advanced eruption of teeth, Hepatic steatosis, Polycystic ova... ORPHA:280365
Hypocalciuric Hypercalcemia, Familial, Type I
Parathyroid adenoma, Hyperparathyroidism, Hypocalciuria, Nephrolithiasis, Pancreatitis, Hypercalc... OMIM:145980
Cortisone Reductase Deficiency 1
Infertility, Precocious puberty, Oligomenorrhea, Acne OMIM:604931
Cholestasis-Lymphedema Syndrome
Cirrhosis, Malabsorption, Jaundice, Erysipelas, Neonatal cholestatic liver disease, Hepatomegaly,... OMIM:214900
Felty Syndrome
Pericarditis, Bone marrow hypocellularity, Hepatomegaly, Thrombocytopenia, Splenomegaly, Abnormal... ORPHA:47612
Hyperlipoproteinemia, Type I
Vomiting, Jaundice, Pancreatitis, Hepatosplenomegaly, Nausea, Splenomegaly OMIM:238600
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Chilblains, Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:615010
Systemic-Onset Juvenile Idiopathic Arthritis
Juvenile rheumatoid arthritis, Skin rash, Pericarditis, Pleural effusion, Lymphadenopathy, Hepato... ORPHA:85414
Toxic Epidermal Necrolysis
Conjunctivitis, Intestinal perforation, Abnormal pleura morphology, Anemia, Neutropenia, Malabsor... ORPHA:537
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Respiratory tract infection, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, H... ORPHA:567546
Lymphoproliferative Syndrome 2
Oral ulcer, Uveitis, Hepatosplenomegaly, Pancytopenia, Recurrent pneumonia, Lymphadenopathy, Hemo... OMIM:615122
Low Phospholipid-Associated Cholelithiasis
Biliary cirrhosis, Liver abscess, Sclerosing cholangitis, Neoplasm of the liver, Hepatocellular c... ORPHA:69663
Erythroderma, Lethal Congenital
Congenital exfoliative erythroderma OMIM:227090
Congenital Non-Bullous Ichthyosiform Erythroderma
Keratitis, Hypohidrosis, Pruritus, Erythroderma ORPHA:79394
Lysinuric Protein Intolerance
Hyperlysinuria, Diarrhea, Ornithinuria, Hepatosplenomegaly, Glomerulonephritis, Hepatomegaly, Arg... ORPHA:470
Acute Lung Injury
Abnormal pulmonary interstitial morphology, Acute pancreatitis, Pneumonia, Diffuse alveolar hemor... ORPHA:178320
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Allergic rhinitis, Skin rash, Jaundice, Steatorrhea, Carious teeth, Hepatomegaly, Exocrine pancre... OMIM:612714
Maple Syrup Urine Disease
Vomiting, Pancreatitis, Increased level of hippuric acid in urine OMIM:248600
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Malabsorption, Jaundice, Biliary tract abnormality, Neonatal cholestatic liver disease... ORPHA:79301
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Intestinal perforation, Bloody diarrhea, Vomiting, Anuria, Diarrhea, Intussusception, Acute kidne... ORPHA:90038
Alport Syndrome 3, Autosomal Dominant
Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Hem... OMIM:104200
Lysinuric Protein Intolerance
Aminoaciduria, Splenomegaly, Vomiting, Pulmonary hemorrhage, Diarrhea, Intraalveolar phospholipid... OMIM:222700
Infection-Related Hemolytic Uremic Syndrome
Nephrotic range proteinuria, Septic arthritis, Bloody diarrhea, Diarrhea, Oliguria, Thrombocytope... ORPHA:544482
Immunodeficiency 7
Hypereosinophilia, Chronic oral candidiasis, Diarrhea, Neutropenia, Recurrent otitis media, Autoi... OMIM:615387
Apolipoprotein C-Ii Deficiency
Splenomegaly, Pancreatitis, Hepatomegaly OMIM:207750
Gamma-Heavy Chain Disease
Neoplasm of the tongue, Anemia, Rheumatoid arthritis, Skin rash, Autoimmune thrombocytopenia, Aut... ORPHA:100026
Netherton Syndrome
Hypereosinophilia, Villous atrophy, Allergic rhinitis, Abnormal intestine morphology, Erythroderm... OMIM:256500
Ebola Hemorrhagic Fever
Leukopenia, Vomiting, Diarrhea, Hepatitis, Lymphopenia, Acute pancreatitis, Nausea, Gastrointesti... ORPHA:319218
Gray Platelet Syndrome
Thrombocytopenia, Abnormality of the menstrual cycle, Splenomegaly ORPHA:721
Peeling Skin Syndrome 1
Palmoplantar hyperhidrosis, Pruritus, Eosinophilia, Erythroderma OMIM:270300
Immunodeficiency 25
T lymphocytopenia, Protracted diarrhea, Recurrent pneumonia, Autoimmune hemolytic anemia, Eosinop... OMIM:610163
Periodic Fever, Familial, Autosomal Dominant
Conjunctivitis, Oligoarthritis, Vomiting, Skin rash, Chronic constipation, Pleuritis, Erysipelas,... OMIM:142680
Immunodeficiency 64 With Lymphoproliferation
Bronchiectasis, Decreased proportion of CD4-positive T cells, Hepatosplenomegaly, Autoimmune thro... OMIM:618534
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Genital ulcers, Oral ulcer, B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormal... OMIM:602450
Hypocomplementemic Urticarial Vasculitis
Conjunctivitis, Glomerulopathy, Pruritus, Diarrhea, Skin rash, Inflammatory abnormality of the ey... ORPHA:36412
Glycogen Storage Disease Ia
Intermittent diarrhea, Enlarged kidney, Hepatocellular carcinoma, Gout, Decreased glomerular filt... OMIM:232200
Pemphigus Foliaceus
Oral ulcer, Pruritus, Crusting erythematous dermatitis, Pustule, Abnormal oral mucosa morphology,... ORPHA:79481
Hypocalciuric Hypercalcemia, Familial, Type Iii
Peptic ulcer, Multiple small medullary renal cysts, Renal insufficiency, Parathormone-independent... OMIM:600740
Ichthyosis With Confetti
Pruritus, Hypoplastic nipples, Erythroderma OMIM:609165
Harlequin Ichthyosis
Recurrent respiratory infections, Eclabion, Erythroderma ORPHA:457
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Arthritis, Sterile arthritis, Pancytopenia, Hepatosplenomegaly, Cystic acne, Thrombocytosis, Coli... OMIM:604416
Ichthyosis, Congenital, Autosomal Recessive 7
Erythroderma OMIM:615022
Transketolase Deficiency
Conjunctivitis, Secondary amenorrhea, Increased level of ribose in urine, Uveitis, Renal cyst, He... ORPHA:488618
Postinfectious Vasculitis
Bacterial endocarditis, Inflammatory abnormality of the skin, Arthritis, Gastrointestinal inflamm... ORPHA:48435
Hemochromatosis, Type 2B
Hepatic fibrosis, Cirrhosis, Anemia, Hypogonadism, Secondary amenorrhea, Hepatomegaly, Splenomegaly OMIM:613313
Autoinflammation With Episodic Fever And Lymphadenopathy
Oral ulcer, Lymphadenopathy, Hepatomegaly, Splenomegaly, Microcytic anemia, Recurrent tonsillitis OMIM:618852
Galactosemia Iii
Aminoaciduria, Vomiting, Jaundice, Galactosuria, Hepatomegaly, Splenomegaly OMIM:230350
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the pancreas, Abnormality of the liver, Abnormalit... ORPHA:543
Adult-Onset Still Disease
Hepatitis, Skin rash, Arthritis, Pleuritis, Recurrent pharyngitis, Generalized lymphadenopathy, N... ORPHA:829
Ichthyosis Prematurity Syndrome
Pruritus, Erythroderma, Allergic rhinitis OMIM:608649
Familial Adenomatous Polyposis
Hypothyroidism, Adenocarcinoma of the small intestine, Neoplasm of the gastrointestinal tract, Ch... ORPHA:733
Cholestasis, Progressive Familial Intrahepatic, 12
Pruritus, Jaundice, Cholestasis, Hepatomegaly, Proteinuria, Splenomegaly OMIM:620010
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Crohn's disease, Arthritis, Myositis, Pustule, Lymphadenopathy, Proteinuria, Increased inflammato... ORPHA:69126
Trichohepatoneurodevelopmental Syndrome
Cholelithiasis, Recurrent pancreatitis, Gastroesophageal reflux, Hypothyroidism, High palate, Wid... OMIM:618268
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Renal dysplasia, Selective tooth agenesis, Microdontia, Cleft palate, Vesicoureteral reflux, Abse... OMIM:604292
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Peptic ulcer, Nephroblastoma, Renal insufficiency, Parathyroid adenoma... ORPHA:99880
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Renal dysplasia, Selective tooth agenesis, Microdontia, Cleft palate, Vesicoureteral reflux, Abse... OMIM:129900
Familial Mediterranean Fever
Vomiting, Crohn's disease, Diarrhea, Aphthous ulcer, Nephrotic syndrome, Stage 5 chronic kidney d... OMIM:249100
Erythrokeratodermia Variabilis Et Progressiva 1
Erythroderma OMIM:133200
Hodgkin Lymphoma
Hyperhidrosis, Lymphadenopathy, Hepatomegaly, Pruritus, Splenomegaly ORPHA:98293
Crimean-Congo Hemorrhagic Fever
Diarrhea, Hemoperitoneum, Adrenal insufficiency, Parotitis, Hepatomegaly, Hematemesis, Thrombocyt... ORPHA:99827
Majeed Syndrome
Glomerulopathy, Osteomyelitis, Inflammatory abnormality of the skin, Malabsorption, Microscopic h... ORPHA:77297
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Peptic ulcer, Nephroblastoma, Renal insufficiency, Renal hamartoma, Ab... ORPHA:143
Mu-Heavy Chain Disease
Anemia, Abnormal B cell count, Lymphadenopathy, Nephropathy, Hepatomegaly, Bence Jones Proteinuri... ORPHA:100024
Classic Hodgkin Lymphoma
Hyperhidrosis, Skin rash, Lymphadenopathy, Bone marrow hypocellularity, Hepatomegaly, Pruritus, S... ORPHA:391
Epidermolytic Hyperkeratosis
Erythroderma OMIM:113800
Sarcoidosis
Abnormal lymph node morphology, Hypothyroidism, Pneumothorax, Bronchiectasis, Keratoconjunctiviti... ORPHA:797
Roifman Syndrome
Long philtrum, Eczema, Recurrent otitis media, Recurrent pneumonia, Lymphadenopathy, Thin upper l... OMIM:616651
Nephronophthisis-Like Nephropathy 1
Pancreatic cysts, Renal tubular atrophy, Chronic pancreatitis, Stage 5 chronic kidney disease, Re... OMIM:613159
Pigmented Nodular Adrenocortical Disease, Primary, 2
Ovarian cyst, Primary hypercortisolism, Pancreatitis, Increased circulating cortisol level OMIM:610475
Autoinflammation With Infantile Enterocolitis
Anemia, Reduced natural killer cell count, Enterocolitis, Villous atrophy, Skin rash, Episodic vo... OMIM:616050
X-Linked Agammaglobulinemia
Conjunctivitis, Anemia, Osteomyelitis, Hepatitis, Skin rash, Arthritis, Malabsorption, Recurrent ... ORPHA:47
Ichthyosis, Congenital, Autosomal Recessive 10
Erythroderma OMIM:615024
Juvenile Idiopathic Arthritis
Abnormal pleura morphology, Malabsorption, Skin rash, Arthritis, Uveitis, Hepatomegaly, Mediastin... ORPHA:92
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Osteomyelitis, High palate, Bronchiectasis, Chronic oral candidiasis, Recurrent sinusitis, Eczema... OMIM:618282
Muckle-Wells Syndrome
Conjunctivitis, Anemia, Recurrent aphthous stomatitis, Nephrotic syndrome, Skin rash, Arthritis, ... ORPHA:575
Candidiasis, Familial, 8
Chronic oral candidiasis, Macroglossia, Cheilitis, Seborrheic dermatitis, Blepharitis OMIM:615527
Congenital Disorder Of Glycosylation, Type If
Thin vermilion border, Renal cortical cysts, Erythroderma OMIM:609180
Leukocyte Adhesion Deficiency, Type Iii
Abnormal lymph node morphology, Anemia, Extramedullary hematopoiesis, Hepatosplenomegaly, Hepatom... OMIM:612840
Alpha-Mannosidosis
Dental malocclusion, Splenomegaly, Narrow palate, Widely spaced teeth, Arthritis, Macroglossia, O... ORPHA:61
Hemochromatosis, Type 1
Cirrhosis, Impotence, Hepatocellular carcinoma, Azoospermia, Pleural effusion, Testicular atrophy... OMIM:235200
Immunodeficiency 60 And Autoimmunity
Decreased basophil count, Crohn's disease, Bronchiectasis, Ulcerative colitis, Recurrent sinopulm... OMIM:618394
Majeed Syndrome
Osteomyelitis, Inflammatory abnormality of the skin, Skin rash, Erythroid hyperplasia, Hepatosple... OMIM:609628
Hemorrhagic Fever-Renal Syndrome
Diarrhea, Acute tubulointerstitial nephritis, Pleural effusion, Glomerulonephritis, Oliguria, Hem... ORPHA:340
Bardet-Biedl Syndrome 20
Bilateral cryptorchidism, Pancreatitis, Male hypogonadism, Proteinuria, Micropenis OMIM:619471
Tyrosinemia Type 1
Generalized aminoaciduria, Hepatocellular carcinoma, Splenomegaly, Hepatomegaly ORPHA:882
Lipodystrophy, Congenital Generalized, Type 2
Decreased fertility, Decreased fertility in females, Cirrhosis, Labial hypertrophy, Hepatic steat... OMIM:269700
Muir-Torre Syndrome
Neoplasm of the stomach, Adenoma sebaceum, Neoplasm of the liver, Renal neoplasm, Colon cancer, S... ORPHA:587
Yao Syndrome
Oral ulcer, Diarrhea, Inflammatory abnormality of the skin, Arthritis, Skin rash, Keratoconjuncti... OMIM:617321
Ichthyosis, Congenital, Autosomal Recessive 1
Everted lower lip vermilion, Erythroderma OMIM:242300
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Conjunctivitis, Vomiting, Diarrhea, Skin rash, Fasciitis, Arthritis, Pleuritis, Recurrent pharyng... ORPHA:32960
Mycosis Fungoides
Psoriasiform dermatitis, Lymphadenopathy, Eczema, Pruritus OMIM:254400
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Anemia, Enlarged kidney, Extramedullary hematopoiesis, Hepatomegaly, Chronic diarrhea... OMIM:615285
Lipodystrophy, Congenital Generalized, Type 1
Decreased fertility in females, Cirrhosis, Labial hypertrophy, Hepatic steatosis, Acute pancreati... OMIM:608594
Tropical Pancreatitis
Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Vomiting, Pancreatic calcification, J... ORPHA:103918
Autosomal Dominant Epidermolytic Ichthyosis
Erythroderma ORPHA:312
Marburg Hemorrhagic Fever
Bloody diarrhea, Diarrhea, Reticulocytosis, Pericarditis, Neutrophilia in presence of infection, ... ORPHA:99826
Ichthyosis, Hystrix-Like, With Deafness
Punctate keratitis, Erythroderma OMIM:602540
Monosomy 22
Hyperhidrosis, High palate, Long philtrum, Hepatosplenomegaly, Hypochromic microcytic anemia, Apl... ORPHA:96123
Autoimmune Lymphoproliferative Syndrome, Type Iia
Malar rash, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta... OMIM:603909
Bathing Suit Ichthyosis
Hypohidrosis, Eclabion, Erythroderma ORPHA:100976
Ichthyosis, Congenital, Autosomal Recessive 9
Hypohidrosis, Eclabion, Erythroderma OMIM:615023
Trichothiodystrophy 1, Photosensitive
Erythroderma, Hypogonadism, Malabsorption, Keratoconjunctivitis sicca, Intestinal obstruction, Ch... OMIM:601675
Graft Versus Host Disease
Maculopapular exanthema, Vomiting, Oral ulcer, Diarrhea, Inflammatory abnormality of the skin, Ar... ORPHA:39812
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Anhidrosis, Membranoproliferative glomerulonephritis, Episodic hemolytic anemia,... ORPHA:251004
Follicular Lymphoma
Abnormality of the peritoneum, Pleural effusion, Lymphadenopathy, Mediastinal lymphadenopathy, Sp... ORPHA:545
Hemoglobin H Disease
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly OMIM:613978
Hyper-Igd Syndrome
Lymphadenitis, Oral ulcer, Vomiting, Elevated urine mevalonic acid level, Diarrhea, Chronic oral ... OMIM:260920
Inflammatory Bowel Disease 28, Autosomal Recessive
Oral ulcer, Crohn's disease, Enterocolitis, Perianal abscess, Folliculitis, Pyoderma, Colitis, He... OMIM:613148
Mirizzi Syndrome
Vomiting, Cholesterol gallstones, Jaundice, Nausea, Cholelithiasis, Abnormality of the ductus cho... ORPHA:521219
Multiple Acyl-Coa Dehydrogenase Deficiency
Vomiting, Polycystic kidney dysplasia, Lacticaciduria, Acute pancreatitis, Glutaric aciduria, Hep... ORPHA:26791
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Pruritus, Splenomegaly OMIM:607685
Leishmaniasis
Leukopenia, Anemia, Rhinitis, Abnormal oral cavity morphology, Abnormal macrophage morphology, Pa... ORPHA:507
Cholesteryl Ester Storage Disease
Cirrhosis, Diarrhea, Jaundice, Hepatomegaly, Esophageal varix, Pruritus, Splenomegaly ORPHA:75234
X-Linked Dominant Chondrodysplasia Punctata
Hydronephrosis, Abnormal lung morphology, High palate, Erythroderma ORPHA:35173
Oxoglutaric Aciduria
Abnormal urine alpha-ketoglutarate concentration, Abnormal salivary gland morphology ORPHA:31
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Recurrent skin infections, Psoriasiform dermatitis, Recurrent respiratory infections, Erythroderma OMIM:615508
Beta-Thalassemia
Anemia, Hepatitis, Hepatomegaly, Cholelithiasis, Hypogonadotropic hypogonadism, Thrombocytopenia,... ORPHA:848
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal lymph node morphology, Anemia, Abnormality of the pancreas, Diarrhea, Abnormal testis mo... ORPHA:54251
Typhoid
Abnormal pulmonary interstitial morphology, Diarrhea, Skin rash, Constipation, Gastrointestinal h... ORPHA:99745
Cryoglobulinemic Vasculitis
Glomerulopathy, Abnormality of the liver, Arthritis, Keratoconjunctivitis sicca, Hematuria, Viral... ORPHA:91138
Chilblain Lupus
Pruritis on hand, Malar rash, Chronic myelomonocytic leukemia, Inflammatory abnormality of the sk... ORPHA:90280
Whipple Disease
Hypothyroidism, Anemia, Diarrhea, Malabsorption, Arthritis, Pleuritis, Uveitis, Erectile dysfunct... ORPHA:3452
Primary Triglyceride Deposit Cardiomyovasculopathy
Inflammatory abnormality of the skin, Pancreatitis, Hepatomegaly, Vacuolated lymphocytes, Splenom... ORPHA:565612
Melas
Recurrent pancreatitis, Proximal tubulopathy, Vomiting, Anemia, Diarrhea, Hypothyroidism, Nephrop... ORPHA:550
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
IgA deposition in the glomerulus, Urethral stricture, Glomerulonephritis, Dysphagia, Abnormality ... ORPHA:79408
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Neutropenia, Leukemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia... OMIM:614470
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Aspiration pneumonia, Delayed eruption of teeth, Widely spaced teeth, Microdontia, Micronodular c... OMIM:301072
Cocaine Intoxication
Tubulointerstitial nephritis, Intestinal perforation, Bloody diarrhea, Vomiting, Pneumothorax, Hy... ORPHA:90068
Ameloonychohypohidrotic Syndrome
Marked delay in eruption of permanent teeth, Hypohidrosis, Hypocalcification of dental enamel, Se... OMIM:104570
Fowler Urethral Sphincter Dysfunction Syndrome
Urinary incontinence, Urinary retention, Dysuria, Abnormality of the ovary, Polycystic ovaries, M... ORPHA:2795
Familial Chylomicronemia Syndrome
Recurrent pancreatitis, Perianal abscess, Jaundice, Hepatosplenomegaly, Hepatic steatosis, Acute ... ORPHA:444490
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Vomiting, Hepatic steatosis, Hepatomegaly, Splenomegaly OMIM:614480
Agammaglobulinemia 9, Autosomal Recessive
Eczematoid dermatitis, Thrombocytopenia, Seborrheic dermatitis, Absent circulating B cells OMIM:619693
Epidermodysplasia Verruciformis
Pustule, Seborrheic dermatitis, Recurrent skin infections ORPHA:302
Hereditary Chronic Pancreatitis
Recurrent pancreatitis, Jaundice, Pancreatic calcification, Leukocytosis ORPHA:676
Glycogen Storage Disease Ic
Chronic pancreatitis, Hepatocellular carcinoma, Stomatitis, Hematuria, Hepatoblastoma, Gout, Infl... OMIM:232240
Lacrimoauriculodentodigital Syndrome
Vesicoureteral reflux, Enamel hypoplasia, Keratoconjunctivitis, Bicornuate uterus, Arthritis, Mic... ORPHA:2363
Scrub Typhus
Hyperhidrosis, Renal insufficiency, Skin rash, Lymphadenopathy, Infectious encephalitis, Myocardi... ORPHA:83317
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Nephronophthisis 19
Hepatic fibrosis, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Malformation of th... OMIM:616217
Wilson Disease
Cirrhosis, Anemia, Pruritus, Hepatitis, Arthritis, Jaundice, Abnormality of the menstrual cycle, ... ORPHA:905
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Recurrent bacterial skin infections, Osteomyelitis, Discoid lupus rash, Liver absc... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Recurrent bacterial skin infections, Osteomyelitis, Discoid lupus rash, Liver absc... OMIM:233710
American Trypanosomiasis
Achalasia, Diarrhea, Skin rash, Aganglionic megacolon, Lymphadenopathy, Hepatomegaly, Infectious ... ORPHA:3386
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Fulminant hepatitis, Lymphocytosis, Recurrent pharyngitis, Pancytopenia, Aplastic an... OMIM:308240
Immunodeficiency 31C
Hypothyroidism, Recurrent vulvovaginal candidiasis, Osteomyelitis, Diarrhea, Bronchiectasis, Vill... OMIM:614162
22Q11.2 Deletion Syndrome
Hypothyroidism, Hypoplasia of the thymus, Hypoparathyroidism, Abnormality of the tonsils, Bowel i... ORPHA:567
Acquired Generalized Lipodystrophy
Cirrhosis, Hepatic steatosis, Acute pancreatitis, Polycystic ovaries, Panniculitis, Hepatomegaly,... ORPHA:79086
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Lymphadenopathy, Chronic otitis media, Abnormal neutrophil count, Bone marrow hyp... ORPHA:3226
T-Cell Immunodeficiency With Thymic Aplasia
T lymphocytopenia, Bronchiectasis, Pyoderma, Recurrent bronchopulmonary infections, Lymphopenia, ... OMIM:242700
Erythroderma Desquamativum
Diarrhea, Seborrheic dermatitis ORPHA:314
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Primary amenorrhea, Splenomegaly OMIM:612526
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Enlarged kidney, Hydrocele testis, Ovarian serous cystadenoma, Abnormality of the... ORPHA:276280
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Pancreatic cysts, Hepatic fibrosis, Hepatic cysts, Multiple small medullary renal cysts, Periport... OMIM:263200
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Conjunctivitis, Cirrhosis, Erythroderma OMIM:242150
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hyperhidrosis, Secretory diarrhea, Seborrheic dermatitis, Acne OMIM:614441
Spinocerebellar Ataxia 34
Erythroderma OMIM:133190
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Nephroblastoma, Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Prostate cance... ORPHA:158057
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Everted upper lip vermilion, B lymphocytopenia, Decreased proportion of CD8-positive, alp... OMIM:619824
Melkersson-Rosenthal Syndrome
Inflammatory abnormality of the skin, Macroglossia, Lymphadenopathy, Oligosacchariduria, Furrowed... ORPHA:2483
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Recurrent bacterial skin infections, Osteomyelitis, Discoid lupus rash, Liver absc... OMIM:233690
Complement Component 5 Deficiency
Generalized seborrheic dermatitis, Intractable diarrhea OMIM:609536
Immunodeficiency 32B
Anemia, Recurrent respiratory infections, Bronchiectasis, Monocytopenia, Neutrophilia, Sinusitis,... OMIM:226990
Trichorhinophalangeal Syndrome, Type Ii
Gastroesophageal reflux, Vesicoureteral reflux, Vomiting, Hyperhidrosis, Hypohidrosis, Deep philt... OMIM:150230
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Anal atresia, Lymphopenia, Eosinophilia, Erythroderma, Hepatic cysts OMIM:617425
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Acholic stools, Portal fibrosis, Hepatomegaly, Pruritus, Splenomegaly OMIM:619868
Reynolds Syndrome
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Cirrhosis, Pruritus, Arthritis, Skin... ORPHA:779
Immunodeficiency With Hyper-Igm, Type 1
Enteroviral encephalitis, Gingivitis, Cirrhosis, Oral ulcer, Diarrhea, Chronic oral candidiasis, ... OMIM:308230
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Biliary cirrhosis, Renal dysplasia, Malformation of the hepatic ductal plate, Pulmonary... OMIM:208540
Immunodeficiency 98 With Autoinflammation, X-Linked
Recurrent aphthous stomatitis, Chronic oral candidiasis, B lymphocytopenia, Recurrent otitis medi... OMIM:301078
Nail-Patella Syndrome
Cleft upper lip, Nephrotic syndrome, Hematuria, Glomerulonephritis, Proteinuria, Cleft palate, Re... OMIM:161200
Ichthyosis, Congenital, Autosomal Recessive 5
Acanthocytosis, Erythroderma OMIM:604777
Anemia, Hypochromic Microcytic, With Iron Overload 2
Anemia, Hypogonadism, Azoospermia, Poikilocytosis, Decreased mean corpuscular volume, Hepatomegal... OMIM:615234
Digeorge Syndrome
Hypothyroidism, Hypoplasia of the thymus, Renal dysplasia, Bifid uvula, Recurrent sinusitis, Hepa... OMIM:188400
Familial Tumoral Calcinosis
Hyperhidrosis, Gingivitis, Skin rash, Abnormal palate morphology, Abnormality of the gingiva, Hep... ORPHA:53715
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Stomatitis, Pancytopenia, Autoimmune thrombocytopenia, Pleural effusion, Auto... OMIM:613011
Common Variable Immunodeficiency
Splenomegaly, Abnormality of the liver, Recurrent respiratory infections, Bronchiectasis, Hemolyt... ORPHA:1572
Viss Syndrome
Hypothyroidism, Bifid tongue, Cleft soft palate, Pneumothorax, Chronic constipation, Bifid uvula,... OMIM:619472
Mast Cell Sarcoma
Mastocytosis, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly ORPHA:66661
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Pancreatic hypoplasia, Biliary hyperplasia, B lymphocytopenia, Pyloric stenosis, ... ORPHA:83617
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Leukopenia, Anemia, Pruritus, Periportal fibrosis, Hyp... ORPHA:64743
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Pruritus, Diarrhea, Malabsorption, Jaundice, Portal inflammation, Portal fibrosis, Int... OMIM:602347
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Elevated urinary prostaglandin E2 level, Hyperhidrosis, Secretory diarrhea, Seborrheic dermatitis... OMIM:167100
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic fibrosis, Jaundice, Hepatic bridging fibrosis, Cholestasis, Pruritus, Splenomegaly OMIM:619658
Chronic Mucocutaneous Candidiasis
Recurrent urinary tract infections, Hepatitis, Skin rash, Abnormal lip morphology, Hematuria, Dys... ORPHA:1334
Kaposiform Lymphangiomatosis
Pancreatic cysts, Anemia, Enlarged kidney, Abnormal spleen morphology, Abnormal lymphatic vessel ... ORPHA:464329
Prolidase Deficiency
Anemia, High palate, Crusting erythematous dermatitis, Eczema, Recurrent pneumonia, Hyperimidodip... OMIM:170100
Immunodeficiency 54
Reduced natural killer cell count, Adrenocorticotropic hormone excess, Adrenal insufficiency, Lym... OMIM:609981
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Anhidrosis, Lymphadenopathy, Chronic otitis media, Hypocalcification of dental ... ORPHA:169090
Congenital Rubella Syndrome
Anemia, Skin rash, Jaundice, Abnormality of the pulmonary artery, Hepatomegaly, Thrombocytopenia,... ORPHA:290
Budd-Chiari Syndrome
Cirrhosis, Malabsorption, Ascites, Jaundice, Cholecystitis, Intestinal obstruction, Gastrointesti... ORPHA:131
Hurler-Scheie Syndrome
Rhinitis, Splenomegaly, Hepatomegaly, Abnormality of the tonsils ORPHA:93476
Sclerosing Cholangitis, Neonatal
Vesicoureteral reflux, Biliary cirrhosis, Cirrhosis, Pruritus, Sclerosing cholangitis, Jaundice, ... OMIM:617394
Harderoporphyria
Increased urine harderoporphyrin level, Vomiting, Hemolytic anemia, Red urine, Reticulocytosis, I... OMIM:618892
B4Galt1-Cdg
Hypothyroidism, Diarrhea, Long philtrum, Inflammatory abnormality of the skin, Thin upper lip ver... ORPHA:79332
Congenital Disorder Of Glycosylation, Type Iiw
Gastroesophageal reflux, Anemia, Vomiting, Increased hepatic echogenicity, Moderate albuminuria, ... OMIM:619525
Granulomatous Disease, Chronic, X-Linked
Lymphadenitis, Recurrent bacterial skin infections, Osteomyelitis, Discoid lupus rash, Liver absc... OMIM:306400
Copper Deficiency, Familial Benign
Anemia, Seborrheic dermatitis OMIM:121270
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocolitis, Perianal abscess, Folliculitis, Pancolitis, Recurrent bronchitis, Enterocutaneous ... OMIM:612567
3-Hydroxy-3-Methylglutaric Aciduria
Leukopenia, Anemia, Diarrhea, Ketonuria, Jaundice, Episodic vomiting, Acute pancreatitis, Thrombo... ORPHA:20
Familial Hypocalciuric Hypercalcemia
Peptic ulcer, Reduced ratio of renal calcium clearance to creatinine clearance, Parathormone-inde... ORPHA:405
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Acholic stools, Biliary tract abnormality, Abnormality of the lymphatic syst... ORPHA:1414
Beta-Thalassemia Intermedia
Hypothyroidism, Adrenal insufficiency, Hepatocellular carcinoma, Hepatosplenomegaly, Hypoparathyr... ORPHA:231222
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Anemia, Leukemia, Erythroid hyperplasia, Hepatomegaly, Thrombocytopenia, ... OMIM:133180
Griscelli Syndrome
Leukopenia, Hepatitis, Jaundice, Pyloric stenosis, Abnormality of neutrophils, Lymphadenopathy, B... ORPHA:381
Portal Hypertension, Noncirrhotic, 1
Esophageal varix, Portal hypertension, Splenomegaly, Hepatomegaly OMIM:617068
Cronkhite-Canada Syndrome
Stomach cancer, Anemia, Diarrhea, Malabsorption, Gastrointestinal carcinoma, Intestinal polyposis... ORPHA:2930
Hyperbilirubinemia, Shunt, Primary
Jaundice, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, ... OMIM:237800
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly... ORPHA:158029
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Irregular menstruation, Hepatic fibrosis, Vomiting, Cirrhosis, Diarrhea, Renal tubular acidosis, ... ORPHA:370
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Chronic pancreatitis, Pancreatic calcification OMIM:608189
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Hyperhidrosis, High palate, Arthritis, Eczematoid dermatitis, Seborrheic dermatitis OMIM:259100
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... OMIM:603902
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diarrhea, B lymphocytopenia, Inflammatory abnormality of the skin, Skin rash, Chronic mucocutaneo... OMIM:102700
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Pyloric stenosis, Splenomegaly ORPHA:664
Dysbetalipoproteinemia
Renal steatosis, Hypothyroidism, Gout, Hepatic steatosis, Acute pancreatitis, Hepatomegaly ORPHA:412
Symptomatic Form Of Hemochromatosis Type 1
Hypothyroidism, Cirrhosis, Arthritis, Infertility, Cholangiocarcinoma, Hepatocellular carcinoma, ... ORPHA:465508
Cholestasis, Progressive Familial Intrahepatic, 2
Intermittent jaundice, Cirrhosis, Diarrhea, Fat malabsorption, Hepatocellular carcinoma, Intrahep... OMIM:601847
Cold Agglutinin Disease
Diarrhea, Hemolytic anemia, Lymphadenopathy, Abnormal urinary color, Hepatomegaly, Splenomegaly ORPHA:56425
Cholestasis, Progressive Familial Intrahepatic, 9
Pruritus, Diarrhea, Jaundice, Malformation of the hepatic ductal plate, Intrahepatic cholestasis,... OMIM:619849
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Vesicoureteral reflux, Cirrhosis, Microvesicular hepatic steatosis, High palate, Pierre-Robin seq... OMIM:300868
Ichthyosis, Congenital, Autosomal Recessive 6
Hypohidrosis, Erythroderma OMIM:612281
Alström Syndrome
Gingivitis, Chronic bronchitis, Recurrent sinusitis, Hepatosplenomegaly, Hepatic steatosis, Glome... ORPHA:64
Sickle Cell Disease
Hemolytic anemia, Priapism, Target cells, Splenic infarction, Jaundice, Hematuria, Increased red ... OMIM:603903
Seborrhea-Like Dermatitis With Psoriasiform Elements
Seborrheic dermatitis OMIM:610227
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Abnormal fallopian tube morphology, Splenomegaly, High palate, Pulmonary lymphangiectasia, Hepato... ORPHA:1655
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteomyelitis, Skin rash, Neutrophilia, Stomatitis, Pustule, Hepatomegaly, Pulmonary fibrosis, Sp... OMIM:612852
Proteasome-Associated Autoinflammatory Syndrome 3
Conjunctivitis, Anemia, Skin rash, Arthritis, Lymphopenia, Myositis, Lymphadenopathy, Sinusitis, ... OMIM:617591
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Delayed eruption of teeth, Thick lower lip vermilion, Abnormality of dental morphology, Eczema, M... ORPHA:369950
Good Syndrome
Thymoma, Anemia, Diarrhea, Bronchiectasis, Recurrent urinary tract infections, Aplasia/Hypoplasia... ORPHA:169105
Neonatal Lupus Erythematosus
Malar rash, Anemia, Abnormality of the liver, Neutropenia, Hemolytic anemia, Skin rash, Pancytope... ORPHA:398124
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Eczema, Recurrent sinusitis, Hepatosplenomegaly, Bone marrow hypocellularity, Panniculitis, Hepat... OMIM:615688
Q Fever
Endocarditis, Myocarditis, Maculopapular exanthema, Osteomyelitis, Abnormality of the liver, Abno... ORPHA:781
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Irregular menstruation, Hepatic fibrosis, Vomiting, Cirrhosis, Diarrhea, Renal tubular acidosis, ... ORPHA:264580
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, Bronchiectasis, Increased proportion of transitional B cells, B lymph... OMIM:616005
Whim Syndrome
Lymphadenitis, Respiratory tract infection, Neutropenia, Bronchiectasis, Abnormality of neutrophi... ORPHA:51636
Thrombocytopenia-Absent Radius Syndrome
Pancreatic cysts, Vesicoureteral reflux, Anemia, Renal malrotation, Axial malrotation of the kidn... OMIM:274000
Proteasome-Associated Autoinflammatory Syndrome 4
Myositis, Autoimmune hemolytic anemia, Lymphadenopathy, Panniculitis, Hepatomegaly, Splenomegaly OMIM:619183
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hypoplasia of the thymus, Perianal abscess, Hepatosplenomegaly, Panniculitis, Hepatomegaly, Cleft... OMIM:612541
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Splenomegaly, High palate, Thyroid lymphangiectasia, Ascites, Pulmonary lymphangiectasia, Pancrea... OMIM:235255
Scheie Syndrome
Rhinitis, Wide mouth, Everted lower lip vermilion, Mucopolysacchariduria, Hepatomegaly, Splenomeg... ORPHA:93474
Trichothiodystrophy
Conjunctivitis, Increased mean corpuscular hemoglobin concentration, Anemia, Enamel hypoplasia, R... ORPHA:33364
Gaucher Disease Type 1
Leukopenia, Cirrhosis, Abnormal pulmonary interstitial morphology, Anemia, Hypersplenism, Hematur... ORPHA:77259
Mucopolysaccharidosis-Plus Syndrome
Renal tubular atrophy, Leukopenia, Anemia, Recurrent respiratory infections, Neutropenia, Nephrot... OMIM:617303
Hennekam Syndrome
Delayed eruption of teeth, Tooth agenesis, Gingival overgrowth, Splenomegaly, Abnormality of dent... ORPHA:2136
Seckel Syndrome 10
Glycosuria, Hepatic steatosis, Acute pancreatitis, Elevated circulating luteinizing hormone level... OMIM:617253
Osteopetrosis, Autosomal Dominant 3
Gingivitis, Anemia, Hyperparathyroidism, Hepatomegaly, Premature loss of teeth, Splenomegaly OMIM:618107
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Diarrhea, Fat malabsorption, Jaundice, Acholic stools, Steatorrhea, Intrahepatic chole... OMIM:607765
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Diarrhea, Bronchiectasis, T lymphocytopenia, Eczema, Hepatosplenomegaly, Abnormal intestine morph... ORPHA:391487
Macrophage Activation Syndrome
Abnormal natural killer cell count, Anemia, Neutropenia, Juvenile rheumatoid arthritis, Hepatitis... ORPHA:158061
Alpha-Thalassemia
Anemia, Hemolytic anemia, Hypersplenism, Jaundice, Cholelithiasis, Abnormal hemoglobin, Splenomeg... ORPHA:846
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hypodontia, Jaundice, Oligodontia, Cholestasis, Hepatomegaly, Portal hypertension, Splenomegaly, ... ORPHA:59303
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Diarrhea, Fat malabsorption, Jaundice, Hepatomegaly, Cholelithiasis, Pruritus, Intrahe... OMIM:211600
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic cysts, Pancreatic hypoplasia, Hepatic fibrosis, Elevated circulating thyroid-stimulati... OMIM:610199
Scorpion Envenomation
Hyperhidrosis, Vomiting, Diarrhea, Pulmonary edema, Ketonuria, Priapism, Acute kidney injury, Gly... ORPHA:466677
Neurofibroma
Neoplasm of the trachea, Multiple intestinal neurofibromatosis, Recurrent otitis media, Abnormal ... ORPHA:252183
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Inter... ORPHA:231154
Purine Nucleoside Phosphorylase Deficiency
Recurrent urinary tract infections, Neutropenia in presence of anti-neutropil antibodies, Pure re... OMIM:613179
Refractory Celiac Disease
Jejunitis, Villous atrophy, Inflammatory abnormality of the skin, Malabsorption, Normocytic anemi... ORPHA:398063
Autosomal Recessive Polycystic Kidney Disease
Fat malabsorption, Cholangiocarcinoma, Pulmonary hypoplasia, Hepatoblastoma, Hepatosplenomegaly, ... ORPHA:731
Lysosomal Acid Lipase Deficiency