Gene Summary

topoisomerase (DNA) III beta
Topo III beta

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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.

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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.

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
Matching phenotypes Source
Idiopathic Non-Lupus Full-House Nephropathy
Skin rash, Acute kidney injury, Proteinuria, Oral ulcer, Synovitis, Abnormal glomerular mesangium... ORPHA:567544
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Autoimmune Lymphoproliferative Syndrome, Type V
Bronchiectasis, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Recurrent upper respira... OMIM:616100
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
T lymphocytopenia, Oral ulcer, Pneumonia, Hepatomegaly, Diarrhea, Splenomegaly, Eczema, Otitis me... OMIM:608971
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Autoimmu... OMIM:619375
Mixed Connective Tissue Disease
Skin rash, Hemolytic anemia, Pericarditis, Gastrointestinal hemorrhage, Pleuritis, Pulmonary fibr... ORPHA:809
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Interstitial pneumonitis, Eczematoid dermatitis, Thyroiditis, Pneumonia, Neutropenia, Ileus, Vomi... ORPHA:37042
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Skin rash, T lymphocytopenia, Bronchiectasis, Reduced natura... OMIM:618108
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent tonsillitis, Hemolytic anemia, Pulmonary fibrosis, Lymphadenitis, Oral ulcer, Lymphopen... OMIM:618935
Prostatitis, Lung abscess, Respiratory tract infection, Cutaneous abscess, Unusual skin infection... ORPHA:31202
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Enamel hypoplasia, Nephrocalcinosis, Male hypogonadism, Iridocyclitis, Chronic oral candidiasis, ... OMIM:240300
Immunodeficiency 51
Folliculitis, Pustule, Cutaneous abscess, Recurrent bronchitis, Chronic oral candidiasis, Recurre... OMIM:613953
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Recurrent otitis media, Recurrent urinary tract infections, Hepatome... OMIM:618495
Immunodeficiency, Common Variable, 8, With Autoimmunity
Bronchiectasis, Thyroiditis, Generalized lymphadenopathy, Pneumonia, Pancytopenia, Lymphadenopath... OMIM:614700
Kerion Celsi
Recurrent skin infections, Recurrent cutaneous abscess formation, Lymphadenopathy, Inflammatory a... ORPHA:499
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Podocyte foot process effacement, Increased CD4:CD8 ratio, Impaired lymphocyte transformation wit... OMIM:617006
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Glandular hypospadias, Megaloblastic anemia, Abnormal erythrocyte morphology, Wide nasal bridge, ... ORPHA:2575
Nephrotic Syndrome, Type 7
Hemolytic anemia, Acute kidney injury, Thrombocytopenia, Glomerulonephritis, Hemolytic-uremic syn... OMIM:615008
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Focal segmental glomerulo... OMIM:619201
Immunodeficiency, Common Variable, 12, With Autoimmunity
Bronchiectasis, Autoimmune hemolytic anemia, Recurrent sinusitis, Chronic atrophic gastritis, Rec... OMIM:616576
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
Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis, Pneumonia, Glomerulonephritis OMIM:247800
Acne Inversa, Familial, 3
Recurrent cutaneous abscess formation, Chronic furunculosis, Acne inversa, Perifolliculitis OMIM:613737
Nephrotic Syndrome, Type 10
Steroid-resistant nephrotic syndrome, Podocyte foot process effacement, Minimal change glomerulon... OMIM:615861
Kimura Disease
Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Inflammatory Bowel Disease (Crohn Disease) 30
Esophagitis, Duodenitis, Chronic diarrhea, Ileitis, Protein-losing enteropathy, Pancolitis, Gastr... OMIM:619079
Gastric Cancer, Hereditary Diffuse
Stomach cancer, Chronic atrophic gastritis, Cleft upper lip, Cleft palate OMIM:137215
Immunodeficiency, Common Variable, 6
Autoimmune thrombocytopenia, Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune compl... OMIM:613496
Immunodeficiency 48
Eczematoid dermatitis, Pneumonia, Hepatomegaly, Diarrhea, Splenomegaly OMIM:269840
Marburg Hemorrhagic Fever
Skin rash, Hematuria, Gastrointestinal hemorrhage, Menometrorrhagia, Thrombocytopenia, Jaundice, ... ORPHA:99826
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Eosinophilic liver infiltration, Hepatic cysts, Hypothyroidism, Membranous nep... OMIM:618999
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Abnormal proportion of CD4-positive T cells, Reticulocytosis, Thyroiditis, Decreas... ORPHA:3261
Peritonitis, Pericarditis, Neutropenia, Ileitis, Melena, Diarrhea, Sinusitis, Myocarditis, Vomiti... ORPHA:73263
Legionnaires Disease
Recurrent pharyngitis, Endocarditis, Pericarditis, Hematuria, Abnormal lung morphology, Abnormal ... ORPHA:549
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Erythroderma, Villous atrophy, Chr... OMIM:304790
Autoimmune Polyendocrinopathy Type 3
Xerostomia, Leukopenia, Autoimmune hypoparathyroidism, Non-caseating epithelioid cell granulomato... ORPHA:227982
Tubulointerstitial Nephritis With Uveitis
Non-caseating epithelioid cell granulomatosis, Abnormality of the mouth, Panuveitis, Uveitis, Rev... OMIM:607665
Autoimmune Polyendocrinopathy Type 4
Iridocyclitis, Autoimmune thrombocytopenia, Anterior pituitary dysgenesis, Hypergonadotropic hypo... ORPHA:227990
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Renal insufficiency, Minimal ... OMIM:256020
Igg4-Related Submandibular Gland Disease
Prostatitis, Renal insufficiency, Enlarged lacrimal glands, Sialadenitis, Abnormal salivary gland... ORPHA:449432
Igg4-Related Kidney Disease
Abnormality of mesentery morphology, Hematuria, Pericarditis, Acute kidney injury, Interstitial p... ORPHA:449395
Familial Mediterranean Fever
Peritonitis, Skin rash, Pleuritis, Pericarditis, Erysipelas, Diarrhea, Osteoarthritis, Lymphadeno... ORPHA:342
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Infertility, Exocrine pancreatic insufficiency, Megaloblastic anemia, Emphysema, Biliary cirrhosi... OMIM:219721
Congenital Pancreatic Cyst
Vomiting, Jaundice, Pancreatitis ORPHA:313906
Drug Rash With Eosinophilia And Systemic Symptoms
Skin rash, Pustule, Lymphocytosis, Interstitial pneumonitis, Enanthema, Thyroiditis, Erythroderma... ORPHA:139402
Chylous Ascites
Abnormal intestine morphology, Ascites, Pancreatitis ORPHA:1160
Lipodystrophy, Partial, Acquired, Susceptibility To
Hematuria, Polycystic ovaries, Membranoproliferative glomerulonephritis, Nephrotic syndrome, Prot... OMIM:608709
Rat-Bite Fever
Skin rash, Parotitis, Pustule, Endocarditis, Pericarditis, Abdominal aseptic abscess, Lymphadenit... ORPHA:31205
C3 Glomerulopathy 3
Glomerulonephritis, Renal insufficiency, Hematuria, Stage 5 chronic kidney disease OMIM:614809
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
Peritonitis, Bronchiolitis, Thyroiditis, Decreased proportion of CD4-positive helper T cells, Pne... ORPHA:2552
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Inflammation of the large intestine, Chronic gastritis, Dysphagia, Neutropenia, Colitis, Diarrhea... OMIM:608809
Complement Component 3 Deficiency, Autosomal Recessive
Membranoproliferative glomerulonephritis, Renal insufficiency, Nephrotic syndrome OMIM:613779
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Pulmonary hemorrhage, Abnormal pulmonary interstitial morphology, Mesangial hypercellularity, Hem... OMIM:616414
Omenn Syndrome
Severe B lymphocytopenia, Erythroderma, Pneumonia, Hypoplasia of the thymus, Thrombocytopenia, He... OMIM:603554
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Hemolytic anemia, Chronic oral candidiasis, Pulmonary interstitial lymphocyte ... OMIM:606367
Omenn Syndrome
Pruritus, Leukocytosis, Thyroiditis, Erythroderma, Abnormal lymphocyte morphology, Chronic diarrh... ORPHA:39041
Systemic Lupus Erythematosus
Hemolytic anemia, Pericarditis, Pleuritis, Thrombocytopenia, Lupus nephritis, Malar rash, Leukope... OMIM:152700
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Hepatic steatosis, Pancreatitis, Polycystic ovaries ORPHA:79084
Cach Syndrome
Renal hypoplasia, Dysphagia, Primary amenorrhea, Optic neuritis, Secondary amenorrhea, Pancreatit... ORPHA:135
Marfanoid Habitus With Microcephaly And Glomerulonephritis
Glomerulonephritis, High palate, High, narrow palate, Renal insufficiency OMIM:248760
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Respiratory tract infection, Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic ... ORPHA:444463
Ménétrier Disease
Multiple gastric polyps, Hypochromic microcytic anemia, Gastrointestinal hemorrhage, Helicobacter... ORPHA:2494
Familial Partial Lipodystrophy, Dunnigan Type
Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Glomerulopathy, Secondary amenorrhea, Spleno... ORPHA:2348
Variant Abeta2M Amyloidosis
Abnormality of the tongue, Intestinal perforation, Renal amyloidosis, Gastrointestinal infarction... ORPHA:314652
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Sézary Syndrome
Pruritus, Erythroderma, Abnormal lymphocyte morphology, Abnormal pleura morphology, Hepatomegaly,... ORPHA:3162
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Neutropenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Anemia, Pancreatitis, Renal insufficiency ORPHA:79312
Familial Reactive Perforating Collagenosis
Pruritus, Perifolliculitis, Maculopapular exanthema, Crusting erythematous dermatitis, Abnormal o... ORPHA:79147
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Glomerulonephritis, High palate, Chronic kidney disease ORPHA:2172
Cystic Echinococcosis
Ovarian cyst, Peritoneal abscess, Hepatic cysts, Abnormality of the testis size, Abnormality of t... ORPHA:400
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Erythroderma, Decreased proportion of CD3-positive T cells, Lymphopenia... ORPHA:169160
Benign Cephalic Histiocytosis
Skin rash, Histiocytosis, Inflammatory abnormality of the skin ORPHA:157997
Galloway-Mowat Syndrome 7
IgA deposition in the glomerulus, Focal segmental glomerulosclerosis, High palate, Smooth philtru... OMIM:618348
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Hemophagocytosis, Colitis, Pancytopenia, Hepat... OMIM:300635
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Skin rash, Splenomegaly OMIM:619175
C1Q Deficiency
Membranoproliferative glomerulonephritis OMIM:613652
Nephrotic Syndrome, Type 11
IgA deposition in the glomerulus, Focal segmental glomerulosclerosis, Smooth philtrum, Renal tubu... OMIM:616730
Nephrotic Syndrome, Type 15
Stage 5 chronic kidney disease, Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome OMIM:617609
Retinitis Pigmentosa 71
Pancreatitis OMIM:616394
Mitochondrial Complex I Deficiency, Nuclear Type 8
Dysphagia, Pancreatitis OMIM:618230
Pauci-Immune Glomerulonephritis
Pulmonary hemorrhage, Scleritis, Arteritis, Acute kidney injury, Abnormality of the pulmonary vas... ORPHA:93126
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Hyperparathyroidism 2 With Jaw Tumors
Parathyroid carcinoma, Papillary renal cell carcinoma, Recurrent pancreatitis, Renal cortical ade... OMIM:145001
Combined Oxidative Phosphorylation Deficiency 52
Lacticaciduria, Hepatic steatosis, Aminoaciduria, Adrenal insufficiency, Pancreatitis, Renal insu... OMIM:619386
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Oligomenorrhea, Hepatic steatosis, Primary amenorrhea, Polycystic ovaries, Hepatomegal... ORPHA:79083
Autoimmune Hepatitis
Inflammation of the large intestine, Acute hepatitis, Cirrhosis, Gastrointestinal hemorrhage, Vir... ORPHA:2137
Pericarditis, Intrarenal abscess, Pneumonia, Anterior uveitis, Myocarditis, Leukopenia, Anemia, S... ORPHA:1304
Idiopathic Steroid-Resistant Nephrotic Syndrome
Peritonitis, Respiratory tract infection, Acute kidney injury, Focal segmental glomerulosclerosis... ORPHA:567548
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Autoimmune thromb... ORPHA:169154
Benign Recurrent Intrahepatic Cholestasis
Pruritus, Cirrhosis, Hepatocellular carcinoma, Chronic diarrhea, Cholelithiasis, Jaundice, Choles... ORPHA:65682
Syndromic Diarrhea
Cirrhosis, Thrombocytosis, Renal hypoplasia, Hypothyroidism, Lymphopenia, Villous atrophy, Periph... ORPHA:84064
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Lymphadenopathy, Splenomegaly ORPHA:52416
Lipase Deficiency, Combined
Pancreatitis OMIM:246650
Microscopic Polyangiitis
Peritonitis, Skin rash, Hematuria, Pericarditis, Gastrointestinal hemorrhage, Increased inflammat... ORPHA:727
Al Amyloidosis
Macroglossia, Renal insufficiency, Abnormality of the kidney, Albuminuria, Gastrointestinal hemor... ORPHA:85443
Galloway-Mowat Syndrome 2, X-Linked
Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, High palate, Minimal ch... OMIM:301006
Peritonitis, Skin rash, Pruritus, Pericarditis, Abnormal sperm morphology, Pneumonia, Abnormality... ORPHA:228123
Lymphatic Filariasis
Hydrocele testis, Epididymitis, Abnormal lung morphology, Urethral obstruction, Abnormality of th... ORPHA:2035
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Leukocytosis, Lymphadenopathy, Pharyngalgia, Splenomegaly, Recurrent aphthous stomatit... OMIM:611762
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Membranoproliferative glomerulonephritis, Hematuria, Proteinuria, Nephrotic syndrome OMIM:613913
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Enlarged lacrimal glands, Iridocyclitis, Bronchiectasis, Pul... OMIM:181000
C3 Glomerulopathy
Hematuria, Acute kidney injury, Membranoproliferative glomerulonephritis, Chronic kidney disease,... ORPHA:329918
Cystic Fibrosis
Chronic sinusitis, Cirrhosis, Exocrine pancreatic insufficiency, Bronchiectasis, Nasal polyposis,... OMIM:219700
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Neutropenia, Thrombocytopenia, Hepatomegaly, Anemia, Pancreatitis, Renal insufficiency, Renal tub... ORPHA:289916
Hemochromatosis, Type 2A
Infertility, Cirrhosis, Azoospermia, Amenorrhea, Hepatomegaly, Splenomegaly, Hypogonadotropic hyp... OMIM:602390
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, Chronic diarrhea, Colitis, Recurrent bronchiolitis, Splenomegaly,... OMIM:619164
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Glomerulonephritis, Hematuria OMIM:314000
Pfapa Syndrome
Recurrent pharyngitis, Hepatomegaly, Encephalitis, Splenomegaly, Abnormal oral cavity morphology,... ORPHA:42642
Pityriasis Rubra Pilaris
Pustule, Pruritus, Erythroderma, Abnormal oral cavity morphology, Eczema ORPHA:2897
Familial Hemophagocytic Lymphohistiocytosis
Abnormal renal physiology, Skin rash, Hemophagocytosis, Erythroderma, Maculopapular exanthema, Ne... ORPHA:540
Mccune-Albright Syndrome
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Primary ... ORPHA:562
Behçet Disease
Pleuritis, Pericarditis, Retrobulbar optic neuritis, Optic neuritis, Renal insufficiency, Myositi... ORPHA:117
Trichothiodystrophy 3, Photosensitive
Erythroderma, Decreased fertility OMIM:616395
Schimke Immuno-Osseous Dysplasia
Abnormal proportion of naive CD4 T cells, Decreased proportion of naive CD8 T cells, Neutropenia,... ORPHA:1830
Cholestasis, Benign Recurrent Intrahepatic, 1
Pruritus, Intrahepatic cholestasis with episodic jaundice, Hepatomegaly, Intermittent jaundice, P... OMIM:243300
Bacterial Toxic-Shock Syndrome
Peritonitis, Skin rash, Recurrent urinary tract infections, Pneumonia, Diarrhea, Sinusitis, Myoca... ORPHA:36234
Apolipoprotein A-I Deficiency
Lymphadenopathy, Abnormality of the liver, Anemia, Splenomegaly ORPHA:425
Primary Lipodystrophy
Cirrhosis, Hepatic steatosis, Menometrorrhagia, Polycystic ovaries, Pancreatitis, Splenomegaly ORPHA:90970
Amyloidosis, Familial Visceral
Skin rash, Hematuria, Nephropathy, Cholestasis, Hepatomegaly, Nephrotic syndrome, Splenomegaly, P... OMIM:105200
Alpha-Heavy Chain Disease
Hepatomegaly, Ascites, Anemia, Splenomegaly, Abnormality of the small intestine, Malabsorption, P... ORPHA:100025
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Bronchiectasis, Follicular hyperplasia, He... OMIM:619126
Cutaneous abscess, Bronchiectasis, Decreased proportion of CD4-positive helper T cells, Neutropen... ORPHA:443811
Cap Polyposis
Hematochezia, Constipation, Chronic atrophic gastritis, Colorectal polyposis, Diarrhea ORPHA:160148
Gastritis, Familial Giant Hypertrophic
Giant hypertrophic gastritis OMIM:137280
Systemic Sclerosis
Pruritus, Hypohidrosis, Pericarditis, Narrow mouth, Acute kidney injury, Abnormal esophagus morph... ORPHA:90291
Cidec-Related Familial Partial Lipodystrophy
Oligomenorrhea, Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Pancreatitis ORPHA:435651
Complement Component 4A Deficiency
Glomerulonephritis OMIM:614380
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Thin upper lip vermilion, Glomerulonephritis, Stage 5 chronic kidney disease, C... OMIM:614376
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Recurrent upper respiratory tract infections, Recurrent sinusitis, Colitis, Thr... OMIM:613101
Systemic Capillary Leak Syndrome
Abnormal renal tubule morphology, Pericarditis, Leukocytosis, Pleural effusion, Oliguria, Diarrhe... ORPHA:188
Igg4-Related Ophthalmic Disease
Prostatitis, Abnormality of the sphenoid sinus, Enlarged lacrimal glands, Sialadenitis, Abnormal ... ORPHA:449563
Igg4-Related Retroperitoneal Fibrosis
Hydrocele testis, Hematuria, Acute kidney injury, Renal insufficiency, Rheumatoid arthritis, Cons... ORPHA:49041
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly, Colitis OMIM:615947
Diffuse Cutaneous Mastocytosis
Pruritus, Gastrointestinal hemorrhage, Erythroderma, Hepatomegaly, Leukemia, Malabsorption, Cutan... ORPHA:79456
Alopecia-Mental Retardation Syndrome 4
Erythroderma, Micropenis, Bilateral cryptorchidism, Hypospadias OMIM:618840
Complement Factor I Deficiency
Pyelonephritis, Recurrent otitis media, Recurrent sinusitis, Recurrent urinary tract infections, ... OMIM:610984
Cheilitis Glandularis
Thick lower lip vermilion, Abnormal salivary gland morphology ORPHA:1221
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Thrombocytopenia, Hepatomegaly, Tubulointerstitial nephritis, Methylmalonic aciduria, Leukopenia,... OMIM:251000
Pancreatitis, Sclerosing Cholangitis, And Sicca Complex
Pruritus, Sclerosing cholangitis, Angular cheilitis, Hepatomegaly, Jaundice, Xerostomia, Keratoco... OMIM:260480
Sarcoidosis, Susceptibility To, 2
Bronchiectasis, Pulmonary fibrosis, Pleural effusion, Emphysema, Uveitis, Hepatomegaly, Abnormal ... OMIM:612387
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Hepatic steatosis, Chronic diarrhea, Hepatomegaly, Pancreatitis OMIM:618805
Recurrent pneumonia, Neutropenia, Anemia, Splenomegaly, Trimethylaminuria OMIM:602079
Hemophagocytic Lymphohistiocytosis, Familial, 4
Skin rash, Hemophagocytosis, Neutropenia, Thrombocytopenia, Jaundice, Conjunctivitis, Hepatomegal... OMIM:603552
Actinic Prurigo
Glomerulonephritis, Pyoderma, Cheilitis OMIM:174770
Vitamin B12-Unresponsive Methylmalonic Acidemia
Thrombocytopenia, Hepatomegaly, Leukopenia, Anemia, Pancreatitis, Renal insufficiency, Macrocytic... ORPHA:27
Mahvash Disease
Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis OMIM:619290
Respiratory tract infection, Gastrointestinal obstruction, Dysphagia, Decreased proportion of CD4... ORPHA:1549
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Infertility, Iridocyclitis, Oligomenorrhea, Dysphagia, Hypothyroidism, Pancreatitis, Hypogonadism... ORPHA:412057
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Hydrocele testis, Thick vermilion border, Wide nasal bridge, Membranoproliferative glomerulonephr... OMIM:137940
Granulomatosis With Polyangiitis
Skin rash, Hematuria, Pericarditis, Pleuritis, Sinusitis, Renal insufficiency, Otitis media, Incr... ORPHA:900
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis OMIM:305800
Immunodeficiency 58
Dysuria, Esophagitis, Seborrheic dermatitis, Cutaneous abscess, Allergic rhinitis, Bronchiectasis... OMIM:618131
Spondylometaphyseal Dysplasia, Axial
Splenomegaly, Reduced sperm motility, Recurrent pneumonia OMIM:602271
Immunodeficiency 27A
Thrombocytosis, Pulmonary infiltrates, Increased inflammatory response, Leukocytosis, Salmonella ... OMIM:209950
Chronic Actinic Dermatitis
Pruritus, Allergic rhinitis, Erythroderma, Eczema, Late onset atopic dermatitis ORPHA:330064
Cyclic Neutropenia
Peritonitis, Cyclic neutropenia, Sinusitis, Gingivitis, Otitis media, Lymphadenopathy, Cervical l... ORPHA:2686
Abnormal nasopharyngeal adenoid morphology, Skin rash, Cutaneous abscess, Abnormal pulmonary thor... ORPHA:3392
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Bronchiectasis, Increas... OMIM:615513
Familial Male-Limited Precocious Puberty
Long penis, Oligospermia, Macroorchidism, Male infertility, Precocious puberty, Acne ORPHA:3000
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Pruritus, Atopic dermatitis, Bronchiectasis, Recurrent otitis media, High palate, Abnormality of ... OMIM:618282
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent bronchitis, Bronchiectasis, Autoimmune thrombocytopenia, Recurrent otitis media, Recurr... OMIM:300853
Lamellar Ichthyosis
Pruritus, Erythroderma, Everted lower lip vermilion, Chronic otitis media, Abnormality of the den... ORPHA:313
Primary Sjögren Syndrome
Thyroiditis, Decreased proportion of CD4-positive helper T cells, Optic neuritis, Chronic hepatit... ORPHA:289390
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Skin rash, Pruritus, Maculopapular exanthema, Hepatomeg... ORPHA:98848
Idiopathic Hypereosinophilic Syndrome
Pruritus, Generalized lymphadenopathy, Chronic hepatitis, Anemia, Neutrophilia, Eczema, Vomiting,... ORPHA:3260
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, T lymphocytopenia, Recurrent pneumonia, Recurrent upper respiratory tract infecti... ORPHA:277
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Recurrent bronchitis, Bronchiectasis, Recu... OMIM:607594
Immunodeficiency 17
Decreased proportion of CD8-positive T cells, Recurrent gastroenteritis, Autoimmune hemolytic ane... OMIM:615607
Netherton Syndrome
Skin rash, Erythroderma, Emphysema, Aminoaciduria, Ectopic kidney, Hydronephrosis, Eczema, Malabs... ORPHA:634
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Azoospermia, Decreased mean corpuscular volume, Hepatomegaly, Anemia, Splenomegaly, ... OMIM:615234
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Carious teeth, Thyroiditis, Diarrhea, Anemia, Gingivitis, Enlarged kidney, Oral ulcer, Polycystic... ORPHA:79259
Stevens-Johnson Syndrome
Dysuria, Gastrointestinal hemorrhage, Abnormality of neutrophils, Excessive salivation, Dysphagia... ORPHA:36426
Propionic Acidemia
Constipation, Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Hyperglycinuria, Anemia,... OMIM:606054
Igg4-Related Pachymeningitis
Abnormal lung morphology, Lymphadenitis, Dysphagia, Pancreatitis, Sinusitis, Nephritis, Eosinophi... ORPHA:449427
Peripheral Primitive Neuroectodermal Tumor
Pruritus, Ovarian neoplasm, Pelvic mass, Uterine neoplasm, Jaundice, Metrorrhagia, Ascites, Pancr... ORPHA:370348
Leukocyte Adhesion Deficiency
Peritonitis, Bronchiectasis, Recurrent urinary tract infections, Pneumonia, Lymphocytic interstit... ORPHA:2968
Immunodeficiency 69
Skin rash, Thrombocytosis, Leukocytosis, Pancytopenia, Diarrhea, Anemia, Splenomegaly, Hepatosple... OMIM:618963
Classic Mycosis Fungoides
Skin rash, Pruritus, Abnormal lymphocyte morphology, Hepatomegaly, Splenomegaly, Eczema, Lymphade... ORPHA:2584
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolytic anemia, Recurrent otitis media,... OMIM:619220
Letterer-Siwe Disease
Seborrheic dermatitis, Pulmonary infiltrates, Stomatitis, Neutropenia, Thrombocytopenia, Jaundice... OMIM:246400
Immunodeficiency 32B
Bronchiectasis, Pneumonia, Sinusitis, Splenomegaly, Recurrent respiratory infections OMIM:226990
Inflammatory Skin And Bowel Disease, Neonatal, 1
Pustule, Duodenitis, Erythroderma, Villous atrophy, Blepharitis, Bloody diarrhea OMIM:614328
Immunodeficiency, Common Variable, 2
Recurrent bronchitis, Bronchiectasis, Recurrent otitis media, Recurrent sinusitis, Follicular hyp... OMIM:240500
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Bronchiectasis, Lymphopenia, Splen... OMIM:617514
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Chronic oral candidiasis, Bronchiectasis, ... OMIM:150550
Ethylene Glycol Poisoning
Hematuria, Renal tubular dysfunction, Renal tubular epithelial necrosis, Nausea, Gastritis, Pulmo... ORPHA:31826
Blau Syndrome
Skin rash, Iridocyclitis, Pericarditis, Retrobulbar optic neuritis, Abnormal salivary gland morph... ORPHA:90340
Hodgkin Lymphoma
Pruritus, Hepatomegaly, Splenomegaly, Hyperhidrosis, Hemoptysis, Lymphadenopathy ORPHA:98293
Bullous Impetigo
Pustule, Recurrent bacterial skin infections, Septic arthritis, Glomerulopathy, Abnormality of th... ORPHA:36237
Caroli Syndrome
Pruritus, Melena, Jaundice, Leukopenia, Hypersplenism, Abnormality of the kidney, Cirrhosis, Intr... ORPHA:480520
Schnitzler Syndrome
Skin rash, Pruritus, Leukocytosis, Hepatomegaly, Anemia, Splenomegaly, Lymphadenopathy, Arthritis ORPHA:37748
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Abnormal salivary gland morphology ORPHA:3225
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Thin vermilion border, Narrow mouth, Abnormality of the ureter, Aplasia/Hypoplasia of the lungs, ... ORPHA:1046
48,Xyyy Syndrome
Enamel hypoplasia, Long philtrum, Abnormal renal morphology, Male hypogonadism, Azoospermia, Recu... ORPHA:99329
Isolated Agammaglobulinemia
Skin rash, Abnormality of neutrophils, Abnormal lymphocyte morphology, Malabsorption, Pneumonia, ... ORPHA:229717
Immunodeficiency 23
Allergic rhinitis, Hemolytic anemia, Bronchiectasis, Lymphopenia, High palate, Neutropenia, Esoph... OMIM:615816
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Acute pancreatitis OMIM:608600
Lipodystrophy, Familial Partial, Type 7
Pancreatitis OMIM:606721
Combined Immunodeficiency Due To Zap70 Deficiency
Skin rash, Lymphocytosis, Recurrent bacterial skin infections, Pneumonia, Abnormality of the lymp... ORPHA:911
Bullous Diffuse Cutaneous Mastocytosis
Erythroderma, Pruritus, Cutaneous mastocytosis ORPHA:280785
Cortisone Reductase Deficiency 1
Infertility, Precocious puberty, Acne, Oligomenorrhea OMIM:604931
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Pruritus, Hepatomegaly, Hyperhidrosis, Splenomegaly, Lymphadenopathy ORPHA:86893
Classic Hodgkin Lymphoma
Skin rash, Pruritus, Hepatomegaly, Hyperhidrosis, Splenomegaly, Hemoptysis, Bone marrow hypocellu... ORPHA:391
Cholestasis-Lymphedema Syndrome
Cirrhosis, Neonatal cholestatic liver disease, Hepatomegaly, Jaundice, Erysipelas, Splenomegaly, ... OMIM:214900
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Elevated urinary delta-aminolevulinic acid, Splenomegaly OMIM:206400
Chronic Granulomatous Disease
Abnormality of neutrophils, Pyloric stenosis, Recurrent respiratory infections, Otitis media, Gin... ORPHA:379
Immunodeficiency 50
Lymphopenia, Recurrent urinary tract infections, Neutropenia, Eczema, Recurrent respiratory infec... OMIM:300988
Corneodermatoosseous Syndrome
Erythroderma, Hypomature dental enamel, Abnormality of the dentition OMIM:122440
Roifman Syndrome
Long philtrum, Downturned corners of mouth, Underdeveloped nasal alae, Recurrent otitis media, He... OMIM:616651
Acute Lung Injury
Pneumonia, Acute pancreatitis, Abnormal pulmonary interstitial morphology, Diffuse alveolar hemor... ORPHA:178320
Roifman Syndrome
Long philtrum, Downturned corners of mouth, Underdeveloped nasal alae, Recurrent otitis media, Ly... ORPHA:353298
Caspase 8 Deficiency
Chronic diarrhea, Pneumonia, Recurrent sinopulmonary infections, Decreased CD4:CD8 ratio, Splenom... OMIM:607271
Primary Sclerosing Cholangitis
Pruritus, Thyroiditis, Jaundice, Renal insufficiency, Cirrhosis, Uveitis, Abnormal biliary tract ... ORPHA:171
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Hypogonadism, Thin vermilion border, Splenomegaly OMIM:608540
Immunodeficiency 55
Neutropenia, Diarrhea, Eczema, Recurrent skin infections, Lymphadenopathy OMIM:617827
Hypocomplementemic Urticarial Vasculitis
Skin rash, Pruritus, Hematuria, Proteinuria, Pleural effusion, Emphysema, Uveitis, Glomerulopathy... ORPHA:36412
Seborrheic dermatitis, Elevated circulating growth hormone concentration, Gastrointestinal hemorr... ORPHA:2796
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Renal tubular acidosis, Organic aciduria, Aspiration pneumonia, Pancreatitis ORPHA:431361
Felty Syndrome
Pleuritis, Pericarditis, Recurrent urinary tract infections, Neutropenia, Anemia, Sinusitis, Lymp... ORPHA:47612
Hypereosinophilic Syndrome, Idiopathic
Pruritus, Hepatomegaly, Splenomegaly, Pulmonary infiltrates, Myeloproliferative disorder, Eosinop... OMIM:607685
Brooke-Spiegler Syndrome
Salivary gland neoplasm, Abnormality of the submandibular glands, Abnormality of the sublingual g... ORPHA:79493
Systemic-Onset Juvenile Idiopathic Arthritis
Skin rash, Pericarditis, Pleural effusion, Hepatomegaly, Juvenile rheumatoid arthritis, Anterior ... ORPHA:85414
Gray Platelet Syndrome
Thrombocytopenia, Abnormality of the menstrual cycle, Splenomegaly ORPHA:721
Gallbladder Disease 1
Cholesterol gallstones, Cholelithiasis, Hepatic fibrosis, Cholangitis, Jaundice, Pancreatitis, Ch... OMIM:600803
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Autoimmune thrombocytopenia, Interstitial pneumonitis, Autoimm... OMIM:615952
Van Der Woude Syndrome
Abnormal salivary gland morphology, Lip pit, Hypodontia, Cleft upper lip, Cleft palate, Lower lip... ORPHA:888
Congenital Bile Acid Synthesis Defect Type 1
Pruritus, Cirrhosis, Gastrointestinal hemorrhage, Neonatal cholestatic liver disease, Biliary tra... ORPHA:79301
Lymphoproliferative Syndrome 2
Hemophagocytosis, Oral ulcer, Uveitis, Pancytopenia, Hepatomegaly, Splenomegaly, Ascites, Aplasti... OMIM:615122
Adult Acute Respiratory Distress Syndrome
Pulmonary edema, Pulmonary infiltrates, Pneumonia, Pancreatitis ORPHA:70578
Abnormality of the tongue, Skin rash, Abnormality of the menstrual cycle, Pruritus, Hematuria, Dy... ORPHA:556
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatic pseudocyst, Pleural effusion, Steatorrhea, Pancreat... OMIM:167800
Majeed Syndrome
Pustule, Hypochromic microcytic anemia, Pulmonary infiltrates, Proteinuria, Leukocytosis, Congeni... ORPHA:77297
Citrullinemia, Type Ii, Adult-Onset
Hepatic steatosis, Hepatocellular carcinoma, Pancreatitis OMIM:603471
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypocalciuria, Peptic ulcer, Primary hyperparathyroidism, Pancreatitis, Parathormone-independent ... OMIM:145981
Galactosemia Iii
Aminoaciduria, Hepatomegaly, Jaundice, Galactosuria, Splenomegaly, Vomiting OMIM:230350
Hypocalciuric Hypercalcemia, Familial, Type I
Hypocalciuria, Hypercalciuria, Nephrolithiasis, Pancreatitis, Parathyroid adenoma, Hyperparathyro... OMIM:145980
Toxic Epidermal Necrolysis
Dysuria, Intestinal perforation, Abnormal vagina morphology, Gastrointestinal hemorrhage, Excessi... ORPHA:537
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimm... OMIM:618534
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Recurrent respiratory infections, Splenomegaly ORPHA:139406
Insulin-Resistance Syndrome Type B
Skin rash, Enlarged ovaries, Biliary cirrhosis, Abnormal salivary gland morphology, Pneumonia, Po... ORPHA:2298
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Secondary amenorrhea, Splenomegaly, Pancreat... ORPHA:280365
Kikuchi-Fujimoto Disease
Skin rash, Lymphocytosis, Pruritus, Generalized lymphadenopathy, Neutropenia, Leukopenia, Myocard... ORPHA:50918
Citrullinemia Type Ii
Hepatic steatosis, Hepatocellular carcinoma, Enuresis, Hepatic fibrosis, Hepatomegaly, Diarrhea, ... ORPHA:247585
Biotinidase Deficiency
Skin rash, Seborrheic dermatitis, Hepatomegaly, Conjunctivitis, Diarrhea, Splenomegaly, Vomiting,... OMIM:253260
Glycogen Storage Disease Ib
Enlarged kidney, Oral ulcer, Focal segmental glomerulosclerosis, Hepatocellular carcinoma, Neutro... OMIM:232220
Visceral Myopathy 1
Megaduodenum, Megacystis, Dysphagia, Constipation, Aganglionic megacolon, Intestinal pseudo-obstr... OMIM:155310
Adult-Onset Still Disease
Skin rash, Pruritus, Pleuritis, Pericarditis, Leukocytosis, Generalized lymphadenopathy, Hepatome... ORPHA:829
Congenital Bile Acid Synthesis Defect Type 3
Pruritus, Gastrointestinal hemorrhage, Neonatal cholestatic liver disease, Biliary tract abnormal... ORPHA:79302
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Transketolase Deficiency
Seborrheic dermatitis, Increased level of ribose in urine, Uveitis, Hepatomegaly, Conjunctivitis,... ORPHA:488618
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Skin rash, Carious teeth, Allergic rhinitis, Exocrine pancreatic insufficiency, Steatorrhea, Hepa... OMIM:612714
Immunodeficiency 60
Decreased proportion of memory B cells, Bronchiectasis, Pulmonary fibrosis, Decreased basophil co... OMIM:618394
Lysinuric Protein Intolerance
Proteinuria, Diarrhea, Argininuria, Leukopenia, Anemia, Vomiting, Hyperlysinuria, Hemophagocytosi... ORPHA:470
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Dental crowding, Hepatic steatosis, Pancreatitis, High palate, Homocystinuria, Methioninuria OMIM:236200
Mu-Heavy Chain Disease
Nephropathy, Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Anemia, Splenomegaly, ... ORPHA:100024
Congenital Lethal Erythroderma
Congenital exfoliative erythroderma, Malabsorption ORPHA:1954
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Oral ulcer, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:618852
Gamma-Heavy Chain Disease
Skin rash, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Dysphagia, Rheumatoid arthri... ORPHA:100026
Hyperlipoproteinemia, Type I
Nausea, Jaundice, Pancreatitis, Splenomegaly, Vomiting, Hepatosplenomegaly OMIM:238600
Alport Syndrome 3, Autosomal Dominant
Renal insufficiency, Hematuria, Glomerulonephritis, Glomerular basement membrane lamellation, Sta... OMIM:104200
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Cryptorchidism, Carious teeth, Hydroureter, Duplicated collecting system, Choanal atresia, Xerost... OMIM:604292
Lysinuric Protein Intolerance
Hemophagocytosis, Pulmonary hemorrhage, Intraalveolar phospholipid accumulation, Nausea, Aminoaci... OMIM:222700
Periodic Fever, Familial, Autosomal Dominant
Skin rash, Pleuritis, Gastrointestinal hemorrhage, Chronic diarrhea, Maculopapular exanthema, Hep... OMIM:142680
Muir-Torre Syndrome
Laryngeal carcinoma, Salivary gland neoplasm, Renal neoplasm, Endometrial carcinoma, Neoplasm of ... ORPHA:587
Coproporphyria, Hereditary
Constipation, Hepatomegaly, Jaundice, Diarrhea, Splenomegaly, Vomiting, Increased urinary porphob... OMIM:121300
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Thrombocytosis, Microcytic anemia, Colitis, Pancytopenia, Cystic acne, Sterile arthritis, Hepatos... OMIM:604416
Infection-Related Hemolytic Uremic Syndrome
Pleuritis, Acute kidney injury, Pneumonia, Diarrhea, Myocarditis, Vomiting, Decreased urine outpu... ORPHA:544482
Ichthyosis, Congenital, Autosomal Recessive 10
Erythroderma OMIM:615024
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Peritonitis, Acute colitis, Microangiopathic hemolytic anemia, Intestinal perforation, Acute kidn... ORPHA:90038
Congenital Non-Bullous Ichthyosiform Erythroderma
Erythroderma, Pruritus, Keratitis, Hypohidrosis ORPHA:79394
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Cryptorchidism, Carious teeth, Oligodontia, Hydroureter, Duplicated collecting system, Choanal at... OMIM:129900
Open bite, Macroglossia, Narrow palate, Chronic otitis media, Recurrent respiratory infections, H... ORPHA:61
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Maple Syrup Urine Disease
Vomiting, Increased level of hippuric acid in urine, Pancreatitis OMIM:248600
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Pustule, Increased inflammatory response, Proteinuria, Lymphadenopathy, Myositis, Crohn's disease... ORPHA:69126
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypocalciuria, Peptic ulcer, Primary hyperparathyroidism, Pancreatitis, Parathormone-independent ... OMIM:600740
Erythroderma, Lethal Congenital
Congenital exfoliative erythroderma OMIM:227090
Netherton Syndrome
Allergic rhinitis, Erythroderma, Villous atrophy, Hypereosinophilia, Abnormal intestine morpholog... OMIM:256500
Glycogen Storage Disease Ia
Enlarged kidney, Focal segmental glomerulosclerosis, Hepatocellular carcinoma, Hepatomegaly, Gout... OMIM:232200
Juvenile Idiopathic Arthritis
Skin rash, Abnormal pleura morphology, Uveitis, Hepatomegaly, Splenomegaly, Mediastinal lymphaden... ORPHA:92
Familial Mediterranean Fever
Peritonitis, Pleuritis, Pericarditis, Renal amyloidosis, Leukocytosis, Pleural effusion, Orchitis... OMIM:249100
Harlequin Ichthyosis
Erythroderma, Eclabion, Recurrent respiratory infections ORPHA:457
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Hepatomegaly, Anemia, Splenomegaly, Recurrent skin in... OMIM:612840
Immunodeficiency 25
T lymphocytopenia, Autoimmune hemolytic anemia, Erythroderma, Protracted diarrhea, Recurrent pneu... OMIM:610163
Reticular Dysgenesis
Skin rash, Abnormality of neutrophils, Chronic otitis media, Aplasia/Hypoplasia of the thymus, Di... ORPHA:33355
Burkitt Lymphoma
Abnormality of the ovary, Neoplasm of the oral cavity, Gastrointestinal hemorrhage, Decreased pro... ORPHA:543
Hemochromatosis, Type 1
Cirrhosis, Azoospermia, Amenorrhea, Pleural effusion, Hepatocellular carcinoma, Impotence, Hepato... OMIM:235200
Autoinflammation With Infantile Enterocolitis
Skin rash, Villous atrophy, Pancytopenia, Thrombocytopenia, Reduced natural killer cell count, Di... OMIM:616050
Familial Adenomatous Polyposis
Abnormal cementum morphology, Thyroiditis, Colorectal polyposis, Adenomatous colonic polyposis, E... ORPHA:733
Ebola Hemorrhagic Fever
Skin rash, Recurrent pharyngitis, Gastrointestinal hemorrhage, Thrombocytopenia, Metrorrhagia, Di... ORPHA:319218
Systemic Lupus Erythematosus, Susceptibility To, 6
Abnormal renal physiology, Pleuritis, Pericarditis, Malar rash, Spontaneous abortion, Abnormality... OMIM:609939
Muckle-Wells Syndrome
Skin rash, Renal amyloidosis, Abnormal palate morphology, Uveitis, Nephropathy, Hepatomegaly, Con... ORPHA:575
Ichthyosis, Congenital, Autosomal Recessive 7
Erythroderma OMIM:615022
Aicardi-Goutieres Syndrome 7
Atopic dermatitis, Thrombocytopenia, Hepatomegaly, Nephrotic syndrome, Splenomegaly OMIM:615846
Immunodeficiency 31C
Autoimmune hemolytic anemia, Hypothyroidism, Lymphopenia, Villous atrophy, Diarrhea, Chronic muco... OMIM:614162
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Anemia, Splenomegaly, Hypogonadism OMIM:613313
Tyrosinemia Type 1
Hepatomegaly, Hepatocellular carcinoma, Generalized aminoaciduria, Splenomegaly ORPHA:882
Congenital Bile Acid Synthesis Defect Type 2
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,... ORPHA:79303
Skin rash, Hemolytic anemia, Pericarditis, Thyroiditis, Abnormal lymphocyte morphology, Abnormali... ORPHA:99867
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hydrocele testis, Respiratory tract infection, Albuminuria, Focal segmental glomerulosclerosis, P... ORPHA:567546
Hyperparathyroidism-Jaw Tumor Syndrome
Renal insufficiency, Nephrocalcinosis, Dysphagia, Constipation, Uterine leiomyoma, Hypercalciuria... ORPHA:99880
Ichthyosis With Confetti
Erythroderma OMIM:609165
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Cryptorchidism, Hypohidrosis, Erythroderma, Aganglionic megacolon, Unilateral renal agenesis, Mul... OMIM:308205
Sandhoff Disease
Hepatomegaly, Recurrent respiratory infections, Splenomegaly ORPHA:796
X-Linked Agammaglobulinemia
Skin rash, Abnormal lung morphology, Chronic otitis media, Malabsorption, Neutropenia, Chronic di... ORPHA:47
Primary Parathyroid Hyperplasia
Parathyroid hyperplasia, Dysphagia, Constipation, Hypercalciuria, Peptic ulcer, Primary hyperpara... ORPHA:99878
Lipodystrophy, Congenital Generalized, Type 2
Decreased fertility in females, Cirrhosis, Hepatic steatosis, Polycystic ovaries, Acute pancreati... OMIM:269700
Bronchiectasis, Maculopapular exanthema, Hypercalciuria, Leukopenia, Anemia, Renal insufficiency,... ORPHA:797
Erythrokeratodermia Variabilis Et Progressiva 1
Erythroderma OMIM:133200
Niemann-Pick Disease, Type B
Bone-marrow foam cells, Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Diffuse reticular or ... OMIM:607616
Majeed Syndrome
Skin rash, Microcytic anemia, Erythroid hyperplasia, Anemia of inadequate production, Decreased m... OMIM:609628
Parathyroid Carcinoma
Parathyroid carcinoma, Nephrocalcinosis, Dysphagia, Constipation, Uterine leiomyoma, Hypercalciur... ORPHA:143
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Tubulointerstitial fibrosis, Enlarged kidney, Hepatic cysts, Periportal fibr... OMIM:263200
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Microcytic anemia, Cholelithiasis, Thrombocytopenia, Hepatomegaly, Hepatitis, Anemia, Splenomegal... ORPHA:848
Monosomy 22
Hypochromic microcytic anemia, Seborrheic dermatitis, Aplasia of the thymus, Thin vermilion borde... ORPHA:96123
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Erythroderma, Lymphopenia, Hepatic cysts, Prominent nose, Anal atresia, Broad nasal tip, Eosinoph... OMIM:617425
Epidermolytic Hyperkeratosis
Erythroderma OMIM:113800
Hyper-Igd Syndrome
Skin rash, Chronic oral candidiasis, Lymphadenitis, Leukocytosis, Oral ulcer, Chronic diarrhea, R... OMIM:260920
Lipodystrophy, Congenital Generalized, Type 1
Decreased fertility in females, Cirrhosis, Hepatic steatosis, Clitoral hypertrophy, Polycystic ov... OMIM:608594
Yao Syndrome
Skin rash, Inflammatory abnormality of the skin, Pleuritis, Pericarditis, Oral ulcer, Xerostomia,... OMIM:617321
Follicular Lymphoma
Pleural effusion, Abnormality of the peritoneum, Splenomegaly, Mediastinal lymphadenopathy, Lymph... ORPHA:545
Benign Schwannoma
Nasal polyposis, Abnormality of the larynx, Abnormal esophagus morphology, Abnormal parotid gland... ORPHA:252164
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Fulmi... OMIM:308240
Ichthyosis, Hystrix-Like, With Deafness
Erythroderma, Punctate keratitis OMIM:602540
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Erythroderma, Cirrhosis, Conjunctivitis OMIM:242150
Trichothiodystrophy 1, Photosensitive
Erythroderma, Chronic diarrhea, Keratoconjunctivitis sicca, Triangular mouth, Hypogonadism, Malab... OMIM:601675
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Peritonitis, Skin rash, Recurrent pharyngitis, Pleuritis, Pericarditis, Leukocytosis, Constipatio... ORPHA:32960
Whipple Disease
Pleuritis, Pericarditis, Gastrointestinal hemorrhage, Erectile dysfunction, Hypothyroidism, Uveit... ORPHA:3452
Cryoglobulinemic Vasculitis
Hematuria, Gastrointestinal hemorrhage, Proteinuria, Viral hepatitis, Gastrointestinal infarction... ORPHA:91138
Graft Versus Host Disease
Maculopapular exanthema, Pneumonia, Chronic hepatitis, Jaundice, Diarrhea, Vomiting, Myositis, Ly... ORPHA:39812
Nephronophthisis-Like Nephropathy 1
Nephronophthisis, Chronic pancreatitis, Pancreatic cysts, Renal tubular atrophy, Renal corticomed... OMIM:613159
Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Rhini... ORPHA:507
Multiple Acyl-Coa Dehydrogenase Deficiency
Lacticaciduria, Glutaric aciduria, Dysphagia, 3-Methylglutaric aciduria, Acute pancreatitis, Hepa... ORPHA:26791
Mycosis Fungoides
Eczema, Pruritus, Psoriasiform dermatitis, Lymphadenopathy OMIM:254400
Lcat Deficiency
Hemolytic anemia, Hematuria, Hepatomegaly, Splenomegaly, Renal insufficiency, Lymphadenopathy, Pr... ORPHA:650
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Follicula... OMIM:614470
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Aminoaciduria, Splenomegaly ORPHA:79238
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Aminoaciduria, Splenomegaly ORPHA:417
Cholesteryl Ester Storage Disease
Pruritus, Cirrhosis, Esophageal varix, Hepatomegaly, Jaundice, Diarrhea, Splenomegaly ORPHA:75234
Cocaine Intoxication
Intestinal perforation, Hematuria, Acute kidney injury, Proteinuria, Gastrointestinal infarctions... ORPHA:90068
Skin rash, Gastrointestinal hemorrhage, Constipation, Hepatomegaly, Abnormal pulmonary interstiti... ORPHA:99745
Ichthyosis, Congenital, Autosomal Recessive 1
Erythroderma, Everted lower lip vermilion OMIM:242300
Oxoglutaric Aciduria
Abnormal salivary gland morphology, Abnormal urine alpha-ketoglutarate concentration ORPHA:31
Lassa Fever
Skin rash, Gastrointestinal hemorrhage, Pleural effusion, Menometrorrhagia, Thrombocytopenia, Con... ORPHA:99824
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Hepatomegaly, Nephrotic syndrome, Ascites, Cardiomegaly, Splenomegaly, Gi... OMIM:269920
Wilson Disease
Acute hepatitis, Abnormality of the menstrual cycle, Cirrhosis, Pruritus, Hepatic steatosis, Thro... ORPHA:905
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Abnormal dental enamel morphology, Enlarged kidney, Membranoproliferat... ORPHA:251004
Chilblain Lupus
Skin rash, Pruritis on hand, Discoid lupus rash, Malar rash, Chronic myelomonocytic leukemia, Inf... ORPHA:90280
Sea-Blue Histiocytosis
Thrombocytopenia, Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy... ORPHA:158029
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Carious teeth, Narrow mouth, Chronic kidney disease, Oral mucosal blisters, Anemia, IgA depositio... ORPHA:79408
Autoinflammatory Syndrome, Familial, Behcet-Like
Skin rash, Hemolytic anemia, Oral ulcer, Lymphopenia, Genital ulcers, Ileal ulcer, Colitis, Throm... OMIM:616744
Bathing Suit Ichthyosis
Erythroderma, Eclabion, Hypohidrosis ORPHA:100976
Lacrimoauriculodentodigital Syndrome
Enamel hypoplasia, Cryptorchidism, Carious teeth, Abnormal dental enamel morphology, Choanal atre... ORPHA:2363
Scrub Typhus
Skin rash, Splenomegaly, Hyperhidrosis, Encephalitis, Anterior uveitis, Myocarditis, Renal insuff... ORPHA:83317
Fowler Urethral Sphincter Dysfunction Syndrome
Dysuria, Abnormality of the ovary, Oligomenorrhea, Amenorrhea, Polycystic ovaries, Urinary incont... ORPHA:2795
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Primary amenorrhea, Hepatomegaly, Splenomegaly, Hepatosplenomegaly OMIM:612526
Common Variable Immunodeficiency
Recurrent bronchitis, Gastrointestinal stroma tumor, Hemolytic anemia, Bronchiectasis, Autoimmune... ORPHA:1572
Pediatric Systemic Lupus Erythematosus
Skin rash, Hematuria, Discoid lupus rash, Diarrhea, Leukopenia, Vomiting, Renal insufficiency, My... ORPHA:93552
American Trypanosomiasis
Skin rash, Aganglionic megacolon, Achalasia, Hepatomegaly, Splenomegaly, Diarrhea, Encephalitis, ... ORPHA:3386
Ichthyosis, Congenital, Autosomal Recessive 6
Erythroderma, Hypohidrosis OMIM:612281
Autosomal Dominant Epidermolytic Ichthyosis
Erythroderma ORPHA:312
22Q11.2 Deletion Syndrome
Cryptorchidism, Seborrheic dermatitis, Carious teeth, Abnormal dental enamel morphology, Narrow m... ORPHA:567
Inflammatory Bowel Disease 28, Autosomal Recessive
Folliculitis, Hematochezia, Oral ulcer, Pyoderma, Colitis, Perianal abscess, Enterocolitis, Crohn... OMIM:613148
Severe Combined Immunodeficiency, X-Linked
Skin rash, T lymphocytopenia, Chronic oral candidiasis, Impaired lymphocyte transformation with p... OMIM:300400
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Seborrheic dermatitis, Hyperhidrosis, Acne, Secretory diarrhea OMIM:167100
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Diarrhea, Splenomegaly, Decreased testicular size, Hypogonadism, Hypogeusia OMIM:201100
Mirizzi Syndrome
Gallbladder perforation, Cholesterol gallstones, Nausea, Dark urine, Cholelithiasis, Jaundice, Ab... ORPHA:521219
Prolidase Deficiency
Short nose, High palate, Thrombocytopenia, Crusting erythematous dermatitis, Hepatomegaly, Prolon... OMIM:170100
Familial Chylomicronemia Syndrome
Hepatic steatosis, Recurrent pancreatitis, Acute pancreatitis, Jaundice, Perianal abscess, Hepato... ORPHA:444490
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Goiter, Chronic noninfectious lymphadenopathy, Papillary renal cell carcinoma, Renal cortical ade... ORPHA:97290
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Eczematoid dermatitis, Lymphadenitis, Recurrent bacterial skin infections, Impaired oxidative bur... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Eczematoid dermatitis, Lymphadenitis, Recurrent bacterial skin infections, Impaired oxidative bur... OMIM:233710
Deafness-Lymphedema-Leukemia Syndrome
Myeloproliferative disorder, Leukocytosis, Chronic otitis media, Recurrent respiratory infections... ORPHA:3226
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the kidney, Abnormal lung morphology, Abnormal testis morphology, Abnormality of t... ORPHA:54251
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
Familial Mediterranean Fever, Autosomal Dominant
Peritonitis, Pleuritis, Renal amyloidosis, Erysipelas, Renal insufficiency, Proteinuria OMIM:134610
Hardikar Syndrome
Pruritus, Hydroureter, Intestinal malrotation, Recurrent urinary tract infections, Hepatomegaly, ... OMIM:612726
Dysplastic Cortical Hyperostosis
Hepatomegaly, Abnormality of the urinary system, Aplasia/Hypoplasia of the lungs, Splenomegaly ORPHA:2204
Gaucher Disease Type 2
Hepatomegaly, Dysphagia, Recurrent respiratory infections, Splenomegaly ORPHA:77260
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Focal segmental glomerulosclerosis, Hypothyroidism, Constipation, Proximal tubulopathy, Nephropat... ORPHA:550
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Bronchiectasis, Eczematoid dermatitis, Lymphopenia, Chronic diarrhea, Pyod... OMIM:242700
Kaposi Sarcoma
Skin rash, Abnormal lung morphology, Abnormality of the gastrointestinal tract, Generalized lymph... ORPHA:33276
Immunodeficiency With Hyper-Igm, Type 1
Cirrhosis, Hemolytic anemia, Oral ulcer, Sclerosing cholangitis, Stomatitis, Neutropenia, Enlarge... OMIM:308230
Kaposiform Lymphangiomatosis
Multiple renal cysts, Abnormal lung morphology, Enlarged kidney, Pancreatic cysts, Pleural effusi... ORPHA:464329
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Recurrent respiratory infections, Erythroderma, Psoriasiform dermatitis, Recurrent skin infections OMIM:615508
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Hepatomegaly, Jaundice, Splenomegaly, Malabsorption ORPHA:172
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly OMIM:611721
Triglyceride Deposit Cardiomyovasculopathy
Renal artery atherosclerosis, Vacuolated lymphocytes, Hepatomegaly, Pancreatitis, Splenomegaly, I... ORPHA:565612
Ameloonychohypohidrotic Syndrome
Hypohidrosis, Seborrheic dermatitis, Abnormal dental enamel morphology, Marked delay in eruption ... OMIM:104570
Chronic Mucocutaneous Candidiasis
Skin rash, Abnormal dental enamel morphology, Abnormality of the mouth, Pruritus, Abnormal vagina... ORPHA:1334
Granulomatous Disease, Chronic, X-Linked
Eczematoid dermatitis, Lymphadenitis, Recurrent bacterial skin infections, Impaired oxidative bur... OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Eczematoid dermatitis, Lymphadenitis, Recurrent bacterial skin infections, Impaired oxidative bur... OMIM:233690
Familial Tumoral Calcinosis
Skin rash, Abnormal palate morphology, Abnormality of the dentition, Hepatomegaly, Hyperhidrosis,... ORPHA:53715
Hemihyperplasia-Multiple Lipomatosis Syndrome
Hydrocele testis, Seborrheic dermatitis, Enlarged kidney, Ovarian serous cystadenoma, Nephroblast... ORPHA:276280
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Long philtrum, Hiatus hernia, Pancreatic cysts, Choanal atresia, Cholestasis, Hepatic fibrosis, H... OMIM:610199
Complement Component 5 Deficiency
Intractable diarrhea, Generalized seborrheic dermatitis OMIM:609536
Epidermodysplasia Verruciformis
Pustule, Seborrheic dermatitis, Recurrent skin infections ORPHA:302
Candidiasis, Familial, 8
Macroglossia, Seborrheic dermatitis, Blepharitis OMIM:615527
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility, Spontaneous abortion, Abnormality of the lymph nodes OMIM:136580
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Severe B lymphocytopenia, Cryptorchidism, Seborrheic dermatitis, Pruritus, Narrow mouth, Underdev... ORPHA:83617
Cholestasis, Progressive Familial Intrahepatic, 1
Pruritus, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatomegaly, Jaundice, Dia... OMIM:211600
Sea-Blue Histiocyte Disease
Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Cinca Syndrome
Skin rash, Leukocytosis, Uveitis, Eosinophilia, Anemia, Hepatosplenomegaly, Lymphadenopathy, Arth... OMIM:607115
Autosomal Agammaglobulinemia
Skin rash, Bronchiectasis, Chronic otitis media, Malabsorption, Neutropenia, Recurrent respirator... ORPHA:33110
Poikiloderma With Neutropenia
Recurrent otitis media, Recurrent sinusitis, Neutropenia, Conjunctivitis, Splenomegaly, Recurrent... OMIM:604173
Congenital Rubella Syndrome
Skin rash, Thrombocytopenia, Jaundice, Hepatomegaly, Anemia, Splenomegaly, Abnormality of the pul... ORPHA:290
Lymphoproliferative Syndrome 1
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Pleural effusion, Decreased proportion ... OMIM:613011
Hereditary Chronic Pancreatitis
Leukocytosis, Jaundice, Pancreatic calcification, Recurrent pancreatitis ORPHA:676
Acquired Generalized Lipodystrophy
Cirrhosis, Hepatic steatosis, Panniculitis, Polycystic ovaries, Hepatomegaly, Acute pancreatitis,... ORPHA:79086
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatic steatosis, Splenomegaly, Hepatomegaly OMIM:614480
Melkersson-Rosenthal Syndrome
Macroglossia, Oligosacchariduria, Cheilitis, Furrowed tongue, Lymphadenopathy, Inflammatory abnor... ORPHA:2483
Farber Lipogranulomatosis
Hepatomegaly, Splenomegaly, Lipogranulomatosis, Arthritis OMIM:228000
Combined Immunodeficiency Due To Crac Channel Dysfunction
Amelogenesis imperfecta, Hemolytic anemia, Chronic otitis media, Pneumonia, Thrombocytopenia, Hep... ORPHA:169090
Erythroderma Desquamativum
Seborrheic dermatitis, Diarrhea ORPHA:314
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Seborrheic dermatitis, Hyperhidrosis, Acne, Secretory diarrhea OMIM:614441
Reynolds Syndrome
Skin rash, Cirrhosis, Pruritus, Dysphagia, Gastroesophageal reflux, Hepatomegaly, Jaundice, Xeros... ORPHA:779
Gaucher Disease, Type Ii
Dysphagia, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Recurrent aspiration pneumonia OMIM:230900
Recurrent pharyngitis, Hemolytic anemia, Thrombocytopenia, Jaundice, Hepatomegaly, Hyperhidrosis,... ORPHA:108
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Hepatomegaly, Leukopenia, Splenomega... OMIM:615285
Lipoid Proteinosis
Pustule, Tongue nodules, Dysphagia, Nasal polyposis, Microglossia, Abnormal oral mucosa morpholog... ORPHA:530
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Congenital Disorder Of Glycosylation, Type If
Erythroderma OMIM:609180
Immunodeficiency 54
Hepatomegaly, Reduced natural killer cell count, Adrenocorticotropic hormone excess, Adrenal insu... OMIM:609981
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Hurler-Scheie Syndrome
Hepatomegaly, Abnormality of the tonsils, Rhinitis, Splenomegaly ORPHA:93476
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Cirrhosis, Seborrheic dermatitis, Narrow mouth, Downturned corners of mouth, Anteverted nares, Hi... OMIM:300868
Griscelli Syndrome
Abnormality of neutrophils, Thrombocytopenia, Jaundice, Hepatitis, Hepatomegaly, Ascites, Leukope... ORPHA:381
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Skin rash, Chronic oral candidiasis, Recurrent bacterial skin infections, Decreas... ORPHA:276
Immunodeficiency, Common Variable, 7
Chronic diarrhea, Recurrent urinary tract infections, Pharyngalgia, Splenomegaly, Recurrent respi... OMIM:614699
Nail-Patella Syndrome
Hematuria, Glomerulonephritis, Nephrotic syndrome, Cleft upper lip, Cleft palate, Renal insuffici... OMIM:161200
Cronkhite-Canada Syndrome
Gastrointestinal carcinoma, Hepatomegaly, Furrowed tongue, Stomach cancer, Intestinal polyposis, ... ORPHA:2930
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Splenomegaly, Anemia of inadequat... OMIM:237800
Goodpasture Syndrome
Erythrocyte cylindruria, Ground-glass opacification, Pulmonary hemorrhage, Reticular pattern on p... OMIM:233450
Cholestasis, Progressive Familial Intrahepatic, 3
Pruritus, Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Diarrhea, Splenomegaly, Po... OMIM:602347
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Cirrhosis, Oligomenorrhea, Irregular menstruation, Hepatocellular adenoma, Hepatocellular carcino... ORPHA:370
Budd-Chiari Syndrome
Peritonitis, Cirrhosis, Gastrointestinal hemorrhage, Gastrointestinal infarctions, Esophageal var... ORPHA:131
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Hepatomegaly, Anemia, Splenomega... OMIM:133180
Beta-Thalassemia Intermedia
Persistence of hemoglobin F, Jaundice, Elevated hepatic iron concentration, Cirrhosis, Extramedul... ORPHA:231222
Thrombocytopenia-Absent Radius Syndrome
Meckel diverticulum, Seborrheic dermatitis, Abnormality of the kidney, Horseshoe kidney, Leukocyt... OMIM:274000
Pressure-Induced Localized Lipoatrophy
Inflammatory abnormality of the skin ORPHA:90160
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Cryptorchidism, Pancreatic lymphangiectasis, Wide nasal bridge, Smooth philtrum, Protein-losing e... OMIM:235255
Ornithine Transcarbamylase Deficiency
Pyloric stenosis, Aminoaciduria, Splenomegaly ORPHA:664
Mucopolysaccharidosis-Plus Syndrome
Macrovesicular hepatic steatosis, Neutropenia, Leukopenia, Anemia, Wide nose, Macroglossia, Nephr... OMIM:617303
Proteasome-Associated Autoinflammatory Syndrome 3
Skin rash, Lymphopenia, Panniculitis, Thrombocytopenia, Conjunctivitis, Hepatomegaly, Splenomegal... OMIM:617591
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Ichthyosis, Congenital, Autosomal Recessive 5
Erythroderma, Acanthocytosis OMIM:604777
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Cryptorchidism, Pancreatic lymphangiectasis, Abnormality of the uterus, Abnormal renal morphology... ORPHA:1655
Cholestasis-Lymphedema Syndrome
Abnormality of urine homeostasis, Cirrhosis, Gastrointestinal hemorrhage, Neonatal cholestatic li... ORPHA:1414
Symptomatic Form Of Hemochromatosis Type 1
Infertility, Cirrhosis, Amenorrhea, Erectile dysfunction, Hepatocellular carcinoma, Hypothyroidis... ORPHA:465508
Chondrodysplasia Punctata 2, X-Linked Dominant
Erythroderma, Tracheal calcification, Hydronephrosis, Tracheal stenosis OMIM:302960
Immunodeficiency 47
Cirrhosis, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jaundice, Leukopenia, Splenomegaly OMIM:300972
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Eczema, Menorrhagia, Psoriasiform dermatitis OMIM:617443
Boutonneuse Fever
Skin rash, Nausea, Maculopapular exanthema, Lymphadenopathy, Thrombocytopenia, Diarrhea, Leukopen... ORPHA:83313
Cold Agglutinin Disease
Hemolytic anemia, Abnormal urinary color, Hepatomegaly, Diarrhea, Splenomegaly, Lymphadenopathy ORPHA:56425
Hemolytic anemia, Reticulocytosis, Prolonged neonatal jaundice, Hepatomegaly, Increased urinary p... OMIM:618892
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Hennekam Syndrome
Narrow mouth, Erysipelas, Lymphangioma, Lymphadenopathy, Depressed nasal bridge, Abnormality of d... ORPHA:2136
Autosomal Dominant Severe Congenital Neutropenia
Monocytosis, Oral ulcer, Periodontitis, Lymphopenia, Leukemia, Pneumonia, Neutropenia, Recurrent ... ORPHA:486
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Cirrhosis, Oligomenorrhea, Irregular menstruation, Hepatocellular adenoma, Hepatic steatosis, Nau... ORPHA:264580
Cholestasis, Progressive Familial Intrahepatic, 2
Pruritus, Cirrhosis, Intrahepatic cholestasis, Hepatocellular carcinoma, Hepatomegaly, Intermitte... OMIM:601847
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Skin rash, Pancytopenia, Leukopenia, Anemia, Eczema, Lymphadenopathy, Oral ulcer, Recurrent otiti... OMIM:615688
Sclerosing Cholangitis, Neonatal
Pruritus, Cirrhosis, Sclerosing cholangitis, Biliary cirrhosis, Cholestasis, Hepatomegaly, Jaundi... OMIM:617394
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Skin rash, Pustule, Pulmonary fibrosis, Stomatitis, Hepatomegaly, Splenomegaly, Neutrophilia, Ost... OMIM:612852
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Splenomegaly, Anemia, Anemia of inadequate ... OMIM:613673
Hermansky-Pudlak Syndrome 2
Long philtrum, Carious teeth, Chronic oral candidiasis, Pulmonary fibrosis, Periodontitis, Recurr... OMIM:608233
3-Hydroxy-3-Methylglutaric Aciduria
Thrombocytosis, Leukocytosis, 3-Methylglutaric aciduria, Acute pancreatitis, Hepatomegaly, Jaundi... ORPHA:20
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Intrahepatic cholestasis, Steatorrhea, Hepatomegaly, Jaundice, Hepatitis, Diarrhea, Sp... OMIM:613812
Ataxia-Pancytopenia Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology, Acute myelomonocytic leukemia, Hypopl... ORPHA:2585
Estrogen Resistance
Primary amenorrhea, Hypoplasia of the uterus, Acne OMIM:615363
Immunodeficiency 36
Bronchiectasis, Chronic lymphatic leukemia, Lymphopenia, Chronic diarrhea, Splenomegaly, Recurren... OMIM:616005
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Anemia, Splenomegaly, Gingivitis, Hyperparathyroidism, Premature loss of teeth OMIM:618107
Good Syndrome
Bronchiectasis, Dysphagia, Aplasia/Hypoplasia of the thymus, Recurrent urinary tract infections, ... ORPHA:169105
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Panniculitis, Hepatomegaly, Splenomegaly, Myositis, Lymphadenopathy OMIM:619183
Ulerythema Ophryogenesis
Inflammatory abnormality of the skin ORPHA:3406
Neonatal Lupus Erythematosus
Skin rash, Hemolytic anemia, Maculopapular exanthema, Neutropenia, Pancytopenia, Thrombocytopenia... ORPHA:398124
Alström Syndrome
Decreased circulating T4 level, Elevated circulating thyroid-stimulating hormone concentration, R... ORPHA:64
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Seborrheic dermatitis, Eczematoid dermatitis, Hyperhidrosis, High palate, Arthritis OMIM:259100
Verrucous Hemangioma
Inflammatory abnormality of the skin ORPHA:464318
Mucopolysaccharidosis, Type Iiid
Drooling, Recurrent upper respiratory tract infections, Dysphagia, Wide mouth, Heparan sulfate ex... OMIM:252940
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Recurrent urinary tract infections, Jaundice, Hypersplenism, Renal insuffici... ORPHA:731
Eosinophilic Granulomatosis With Polyangiitis
Skin rash, Hematuria, Nasal polyposis, Sinusitis, Myocarditis, Renal insufficiency, Myositis, Eos... ORPHA:183
Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Anemia, Splenomegaly, Hypersplenis... ORPHA:846
Scheie Syndrome
Mucopolysacchariduria, Everted lower lip vermilion, Wide mouth, Thick vermilion border, Hepatomeg... ORPHA:93474
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Cirrhosis, Vacuolated lymphocytes, Increased hepatic echogenicity, Hepati... OMIM:278000
Nephronophthisis 19
Nephronophthisis, Cholestasis, Hepatic fibrosis, Hepatomegaly, Stage 5 chronic kidney disease, Sp... OMIM:616217
Q Fever
Endocarditis, Pericarditis, Hematuria, Cholecystitis, Pleural effusion, Maculopapular exanthema, ... ORPHA:781
Sting-Associated Vasculopathy, Infantile-Onset
Skin rash, Pustule, Thrombocytosis, Pulmonary fibrosis, Lymphopenia, Paratracheal lymphadenopathy... OMIM:615934
Zimmermann-Laband Syndrome
Macroglossia, Gingival fibromatosis, Bulbous nose, Wide mouth, Hypodontia, Hepatomegaly, Cleft pa... ORPHA:3473
Transaldolase Deficiency
Micronodular cirrhosis, Cirrhosis, Thin vermilion border, Short philtrum, Deep philtrum, Wide mou... OMIM:606003
Caroli Disease
Pruritus, Cirrhosis, Leukocytosis, Intrahepatic cholestasis, Biliary cirrhosis, Nausea, Cholelith... ORPHA:53035
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Pancreatic calcification, Chronic pancreatitis OMIM:608189
Cinca Syndrome
Abnormality of neutrophils, Retrobulbar optic neuritis, Leukocytosis, Abnormal granulocyte morpho... ORPHA:1451
Histiocytosis-Lymphadenopathy Plus Syndrome
Azoospermia, Anteverted nares, Hypergonadotropic hypogonadism, Decreased response to growth hormo... OMIM:602782
Sickle Cell Anemia
Hemolytic anemia, Hematuria, Leukocytosis, Cholelithiasis, Hepatomegaly, Jaundice, Priapism, Incr... OMIM:603903
Gaucher Disease Type 1
Cirrhosis, Hematuria, Biliary tract obstruction, Pancytopenia, Thrombocytopenia, Hepatomegaly, Sp... ORPHA:77259
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome