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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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
Matching phenotypes Source
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Recurrent upper respiratory tract infections, Diarrhea, Eczematoid dermatitis... OMIM:616100
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Inflammation of the large intestine, Diarrhea, Psoriasiform dermatitis, Hepatomegaly, Recurrent l... ORPHA:436159
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Abnormal glomerular mesangium morphology, Renal insufficiency, Skin rash, Gl... ORPHA:567544
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Immunodeficiency 104
Pneumonia, Diarrhea, Gastroesophageal reflux, Eczematoid dermatitis, Chronic mucocutaneous candid... OMIM:608971
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Glomerulonephritis, Lymphade... OMIM:619375
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent pneumonia, Recurrent tonsillitis, Renal insufficiency, Membranoproliferative glomerulon... OMIM:613779
Mixed Connective Tissue Disease
Nephropathy, Mediastinal lymphadenopathy, Gastroesophageal reflux, Xerostomia, Gastrointestinal h... ORPHA:809
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Reduced natural killer cell count, Diarrhea, Skin rash, Gast... OMIM:618108
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... OMIM:614700
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Crusting erythematous dermatitis, ... ORPHA:37042
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Nephrocalcinosis, Female hypogonadism, Male hypogonadism, Chronic mucocutaneo... OMIM:240300
C3 Glomerulopathy 3
Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes... OMIM:614809
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Recurrent tonsillitis, Lymphadenitis, Eczematoid dermatitis, Anal fissure, L... OMIM:618935
Pneumonia, Unusual skin infection, Foot osteomyelitis, Cutaneous abscess, Hepatitis, Parotitis, A... ORPHA:31202
Immunodeficiency 51
Pneumonia, Folliculitis, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Cutaneous absc... OMIM:613953
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Recurrent pneumonia, Autoimmune hemolytic anemia, Recurrent sinusitis, Recurr... OMIM:616576
Immunodeficiency 91 And Hyperinflammation
Recurrent pneumonia, Nephrotic syndrome, Abnormal pulmonary interstitial morphology, Hemophagocyt... OMIM:619644
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Minimal change glomerulonephritis, Podocyte foot process effacement, Proteinuria, Colitis, Impair... OMIM:617006
Nephrotic Syndrome, Type 23
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti... OMIM:619201
Kerion Celsi
Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent skin infec... ORPHA:499
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Hepatic fibrosis, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, ... OMIM:619858
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Glomerulonephritis OMIM:247800
Immunodeficiency, Common Variable, 6
Abnormal T cell count, Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Abnor... OMIM:613496
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Folate-unresponsive megaloblastic anemia, Diarrhea, Glandular hypospadias, Abnormal erythrocyte m... ORPHA:2575
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal... OMIM:619079
Nephrotic Syndrome, Type 10
Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Podo... OMIM:615861
Kimura Disease
Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Nephrotic Syndrome, Type 7
Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kidney disease, Podo... OMIM:615008
Diffuse Gastric And Lobular Breast Cancer Syndrome
Atrophic gastritis, Cleft upper lip, Stomach cancer, Cleft palate OMIM:137215
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerulonephritis, Glomerular deposits ORPHA:69063
Diarrhea, Ileitis, Pustule, Acute infectious pneumonia, Neutropenia, Endocarditis, Gastrointestin... ORPHA:73263
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczematoid dermatitis, Hepatitis, Decreased FOXP3-expressing T cell count, Villous atrophy, Ileus... OMIM:304790
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Hepatosplenomegaly, Hepatic cysts, Colonic eosinophilia, Eosinophilia, Hypothy... OMIM:618999
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Thymoma, Aplasia/Hypoplasia of the spleen, Rheumatoid arthritis, Xerostomia, ... ORPHA:227990
Autoimmune Polyendocrinopathy Type 3
Rheumatoid arthritis, Xerostomia, Autoimmune hypoparathyroidism, Iridocyclitis, Tubulointerstitia... ORPHA:227982
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Recurre... ORPHA:183675
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:256020
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Mesangial hypercellularity, Art... OMIM:616414
Autoimmune Lymphoproliferative Syndrome
Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport... ORPHA:3261
Legionnaires Disease
Bone marrow hypocellularity, Diarrhea, Hepatitis, Lymphopenia, Abnormal pleura morphology, Renal ... ORPHA:549
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility, Abnormal lymph node morphology OMIM:136580
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Renal insufficiency,... ORPHA:54370
Cach Syndrome
Renal hypoplasia, Vomiting, Gonadal dysgenesis, Hepatosplenomegaly, Optic neuritis, Pancreatitis,... ORPHA:135
Igg4-Related Kidney Disease
Chronic kidney disease, Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Urethriti... ORPHA:449395
Congenital Pancreatic Cyst
Jaundice, Vomiting, Pancreatitis ORPHA:313906
Lipodystrophy, Partial, Acquired, Susceptibility To
Hepatic steatosis, Polycystic ovaries, Proteinuria, Hematuria, Membranoproliferative glomerulonep... OMIM:608709
Drug Reaction With Eosinophilia And Systemic Symptoms
Hepatitis, Interstitial pneumonitis, Renal insufficiency, Skin rash, Infectious encephalitis, Pus... ORPHA:139402
Omenn Syndrome
Pneumonia, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Chronic diarrhea, Anemia, ... ORPHA:39041
Nephrotic Syndrome, Type 16
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria OMIM:617783
Immunodeficiency 82 With Systemic Inflammation
Diarrhea, Anoperineal fistula, Pustular rash, Recurrent otitis media, Follicular hyperplasia, Ora... OMIM:619381
Chylous Ascites
Ascites, Pancreatitis, Abnormal intestine morphology ORPHA:1160
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Abnormality of the submandibu... ORPHA:449432
Systemic Lupus Erythematosus
Nephritis, Hemolytic anemia, Malar rash, Leukopenia, Lupus nephritis, Arthritis, Thrombocytopenia... OMIM:152700
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased proportion of CD4+CD25+ regulatory T cells, Eczematoid dermatitis, Hepatosplenomegaly, ... OMIM:606367
Familial Mediterranean Fever
Nephropathy, Diarrhea, Intestinal obstruction, Nephrotic syndrome, Erysipelas, Ascites, Gastroint... ORPHA:342
Ménétrier Disease
Gastrointestinal hemorrhage, Diarrhea, Gastroesophageal reflux, Vomiting, Stomach cancer, Abnorma... ORPHA:2494
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Renal insufficiency, Splenomegaly, Anemia, Pancreatitis, Neutropenia, Thrombocytopenia, Hepatomegaly ORPHA:79312
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Pancreatitis, Hepatic steatosis, Polycystic ovaries ORPHA:79084
Sézary Syndrome
Abnormal pleura morphology, Abnormal lymphocyte morphology, Splenomegaly, Erythroderma, Lymphaden... ORPHA:3162
Nephrotic Syndrome, Type 15
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Steroid-resistant... OMIM:617609
Rat-Bite Fever
Diarrhea, Lymphadenitis, Vomiting, Parotitis, Morbilliform rash, Abdominal aseptic abscess, Skin ... ORPHA:31205
Familial Reactive Perforating Collagenosis
Abnormal oral mucosa morphology, Inflammatory abnormality of the skin, Maculopapular exanthema, C... ORPHA:79147
Familial Partial Lipodystrophy, Dunnigan Type
Splenomegaly, Hepatic steatosis, Dysmenorrhea, Polycystic ovaries, Advanced eruption of teeth, Gl... ORPHA:2348
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Chronic kidney disease, High palate, Glomerulonephritis ORPHA:2172
Lymphadenitis, Urethritis, Abnormality of the spleen, Abnormality of the urinary system physiolog... ORPHA:2552
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Recurrent pneumonia, Diarrhea, Hepatitis, Protracted diarrhea, Lymphopenia, Hepatosple... ORPHA:169160
Variant Abeta2M Amyloidosis
Chronic kidney disease, Renal amyloidosis, Hepatic amyloidosis, Gastrointestinal infarctions, Abn... ORPHA:314652
Genetic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, St... ORPHA:656
Lymphatic Filariasis
Urethral obstruction, Nephrotic syndrome, Lymphadenitis, Hypereosinophilia, Abnormal scrotum morp... ORPHA:2035
Galloway-Mowat Syndrome 7
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Cleft lip, Eczematoid derm... OMIM:618348
C1Q Deficiency 1
Membranoproliferative glomerulonephritis OMIM:613652
Idiopathic Pulmonary Hemosiderosis
Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Hepatosplenomegaly, Nodular pat... ORPHA:99931
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent upper respiratory tract infections, Decreased proportion of CD8-positive T cells, Lymph... ORPHA:169154
Pparg-Related Familial Partial Lipodystrophy
Splenomegaly, Hepatic steatosis, Dysmenorrhea, Polycystic ovaries, Cirrhosis, Oligomenorrhea, Pan... ORPHA:79083
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Pulmonary cyst, Diarrhea, Eosinophilic infiltration of the esophagus, High palate, Duodenal ulcer... OMIM:147060
Al Amyloidosis
Howell-Jolly bodies, Nephrotic syndrome, Gastrointestinal hemorrhage, Xerostomia, Macroglossia, G... ORPHA:85443
Nephrotic Syndrome, Type 11
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Cleft lip, IgA deposition ... OMIM:616730
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Recurrent otitis media, Lymphopenia, Splenomegaly, Respiratory tract infection, Autoim... ORPHA:444463
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hepatitis, Hemophagocytosis, ... OMIM:300635
Systemic Lupus Erythematosus 16
Lupus nephritis OMIM:614420
Galloway-Mowat Syndrome 2, X-Linked
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:301006
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Diarrhea, Recurrent upper respiratory tract infections, Vomiting, Pancreatitis OMIM:620137
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Adrenal insufficiency, Renal insufficiency, Hepatic steatosis, Pancreatitis, Lacti... OMIM:619386
Autoimmune Hepatitis
Inflammation of the large intestine, Gastrointestinal hemorrhage, Ascites, Splenomegaly, Sclerosi... ORPHA:2137
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Histiocytosis, Skin rash ORPHA:157997
Cystic Echinococcosis
Cholestatic liver disease, Peritoneal abscess, Pulmonary cyst, Abnormality of the testis size, Sp... ORPHA:400
Aicardi-Goutieres Syndrome 7
Diarrhea, Pancytopenia, Chilblains, Hepatic steatosis, Hepatomegaly, Nephrotic syndrome, Recurren... OMIM:615846
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Inflammation of the large intestine, Reduced natural kill... OMIM:301074
Benign Recurrent Intrahepatic Cholestasis
Cholestatic liver disease, Cholelithiasis, Chronic diarrhea, Cirrhosis, Pancreatitis, Acholic sto... ORPHA:65682
Hyperparathyroidism 2 With Jaw Tumors
Hyperparathyroidism, Parathyroid carcinoma, Pancreatic adenocarcinoma, Papillary renal cell carci... OMIM:145001
Proteasome-Associated Autoinflammatory Syndrome 5
Skin rash, Hepatomegaly, Splenomegaly OMIM:619175
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Stage... ORPHA:567548
Cystic Fibrosis
Recurrent pneumonia, Biliary cirrhosis, Diarrhea, Meconium ileus, Exocrine pancreatic insufficien... OMIM:219700
Pauci-Immune Glomerulonephritis
Acute kidney injury, Arteritis, Pulmonary hemorrhage, Decreased glomerular filtration rate, Renal... ORPHA:93126
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Minimal change glomerulonephritis, Hematochezia, Intraalveolar phospholipid accumulation, Eczemat... OMIM:620565
Cap Polyposis
Atrophic gastritis, Hematochezia, Diarrhea, Constipation, Colorectal polyposis ORPHA:160148
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal insufficiency, Renal tubular dysfunction, Anemia, Pancreatitis, Neutropenia, Thrombocytopen... ORPHA:289916
Mitochondrial Complex I Deficiency, Nuclear Type 8
Pancreatitis, Dysphagia OMIM:618230
Lipase Deficiency, Combined
Pancreatitis OMIM:246650
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Reduced natural killer cell count, Vomiting, Eczematoid d... OMIM:619510
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Follicular hyperplasia, Decreased proportion of class-switched memory B cells... OMIM:619126
Arteritis, Sacroiliac arthritis, Hypersplenism, Thrombocytosis, Knee osteoarthritis, Glomerulonep... ORPHA:1304
Pityriasis Rubra Pilaris
Eczematoid dermatitis, Pustule, Abnormal oral cavity morphology, Erythroderma, Pruritus ORPHA:2897
Sarcoidosis, Susceptibility To, 1
Mediastinal lymphadenopathy, Inflammation of the large intestine, Enlarged lacrimal glands, Abnor... OMIM:181000
Omenn Syndrome
Pneumonia, Severe B lymphocytopenia, Diarrhea, Splenomegaly, Hypoplasia of the thymus, Eosinophil... OMIM:603554
C3 Glomerulopathy
Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Stage 5 ... ORPHA:329918
Syndromic Diarrhea
Hepatic fibrosis, Renal hypoplasia, Peripheral pulmonary artery stenosis, Intractable diarrhea, L... ORPHA:84064
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Hemophagocytosis, Skin rash, Splenomegaly, Infectious encephalitis, Ja... ORPHA:540
Immunodeficiency 76
Recurrent pneumonia, Lymphopenia, Splenomegaly, Recurrent bronchiolitis, Chronic diarrhea, Lympha... OMIM:619164
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Diarrhea, Vomiting, Abnormality of the spleen, Abnormality of the li... ORPHA:79456
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Proteinuria, Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis OMIM:613913
Systemic Capillary Leak Syndrome
Oliguria, Diarrhea, Pleural effusion, Renal insufficiency, Leukocytosis, Pulmonary edema, Abnorma... ORPHA:188
Cholestasis, Benign Recurrent Intrahepatic, 1
Intermittent jaundice, Pancreatitis, Intrahepatic cholestasis with episodic jaundice, Hepatomegal... OMIM:243300
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Glomerulonephritis, Thrombocytopenia OMIM:314000
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Long philtrum, Gingival overgrowth, Chronic constipation, Proteinuria, Smooth philtrum, Glomerula... OMIM:619428
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:614196
Congenital Syphilis
Pneumonia, Diarrhea, Keratitis, Extramedullary hematopoiesis, Hepatosplenomegaly, Mulberry molar,... ORPHA:499009
Microscopic Polyangiitis
Uveitis, Oliguria, Diarrhea, Gastrointestinal hemorrhage, Gastrointestinal infarctions, Renal ins... ORPHA:727
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent otitis media, Pyelonephritis, Renal insufficiency, ... OMIM:610984
Abnormality of the spleen, Morbilliform rash, Abnormality of the bladder, Abnormality of the fema... ORPHA:228123
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Splenomegaly, Lymphadenopathy ORPHA:52416
Mccune-Albright Syndrome
Renal phosphate wasting, Increased circulating cortisol level, Increased circulating prolactin co... ORPHA:562
Allergic rhinitis, Abnormal CD4:CD8 ratio, Lymphopenia, Esophagitis, Decreased proportion of CD4-... ORPHA:443811
Cidec-Related Familial Partial Lipodystrophy
Hepatic steatosis, Polycystic ovaries, Pancreatitis, Oligomenorrhea, Hepatomegaly ORPHA:435651
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Supernumerary nipple, Stage 5 chronic kidney disease, Proteinuria, Hepatomegaly... OMIM:614376
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Inflammation of the large intestine, Decreased glomerular fil... OMIM:232220
Systemic Sclerosis
Chronic kidney disease, Intestinal bleeding, Narrow mouth, Glomerulonephritis, Abnormality of the... ORPHA:90291
Hemochromatosis, Type 2A
Azoospermia, Splenomegaly, Hypogonadotropic hypogonadism, Amenorrhea, Cirrhosis, Arthritis, Hepat... OMIM:602390
Bacterial Toxic-Shock Syndrome
Diarrhea, Glomerulonephritis, Recurrent skin infections, Osteomyelitis, Renal insufficiency, Myos... ORPHA:36234
Complement Component 4A Deficiency
Glomerulonephritis OMIM:614380
Actinic Prurigo
Pyoderma, Cheilitis, Glomerulonephritis OMIM:174770
Schimke Immuno-Osseous Dysplasia
Nephropathy, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Bone marrow h... ORPHA:1830
Vitamin B12-Unresponsive Methylmalonic Acidemia
Leukopenia, Renal insufficiency, Macrocytic anemia, Anemia, Pancreatitis, Thrombocytopenia, Hepat... ORPHA:27
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Hepatic steatosis, Pancreatitis, Hepatomegaly, Chronic diarrhea OMIM:618805
Behçet Disease
Oral ulcer, Endocarditis, Gastrointestinal hemorrhage, Pleural effusion, Renal insufficiency, Inc... ORPHA:117
Alopecia-Intellectual Disability Syndrome 4
Micropenis, Hypospadias, Erythroderma, Bilateral cryptorchidism OMIM:618840
Cheilitis Glandularis
Abnormal salivary gland morphology, Thick lower lip vermilion ORPHA:1221
Immunodeficiency 58
Allergic rhinitis, Recurrent upper respiratory tract infections, Recurrent pneumonia, Chronic oti... OMIM:618131
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatic fibrosis, Inflammation of the large intestine, Hematochezia, Lymphadenitis, Eczematoid de... OMIM:615895
Immunodeficiency 48
Pneumonia, Eczematoid dermatitis, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transf... OMIM:269840
Chronic Actinic Dermatitis
Allergic rhinitis, Eczematoid dermatitis, Erythroderma, Late onset atopic dermatitis, Pruritus ORPHA:330064
Igg4-Related Retroperitoneal Fibrosis
Rheumatoid arthritis, Psoriasiform dermatitis, Hematuria, Retrograde ejaculation, Deep dermal per... ORPHA:49041
Pfapa Syndrome
Splenomegaly, Infectious encephalitis, Abnormal oral cavity morphology, Lymphadenopathy, Arthriti... ORPHA:42642
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Hypogonadism, Delayed menarche, Iridocyclitis, Oligomenorrhea, Pancreatitis, Hypothyroidism, Infe... ORPHA:412057
Propionic Acidemia
Hyperglycinuria, Vomiting, Eczematoid dermatitis, Increased level of hippuric acid in urine, Panc... OMIM:606054
Igg4-Related Ophthalmic Disease
Thyroiditis, Keratitis, Colon cancer, Sialadenitis, Orchitis, Prostatitis, Eosinophilia, Pancreat... ORPHA:449563
Alpha-1-Antitrypsin Deficiency
Splenomegaly, Chronic bronchitis, Cirrhosis, Gastric varix, Panacinar emphysema, Bronchiectasis, ... OMIM:613490
Intellectual Developmental Disorder, Fra12A Type
Recurrent lower respiratory tract infections, Erythroderma OMIM:136630
Gastritis, Familial Giant Hypertrophic
Giant hypertrophic gastritis OMIM:137280
Netherton Syndrome
Allergic rhinitis, Eczematoid dermatitis, Hypereosinophilia, Villous atrophy, Recurrent infection... OMIM:256500
Activated Pi3K-Delta Syndrome
Pneumonia, Recurrent tonsillitis, Recurrent otitis media, Splenomegaly, Chronic sinusitis, Abnorm... ORPHA:397596
Amyloidosis, Hereditary Systemic 2
Nephropathy, Renal amyloidosis, Cholestasis, Splenomegaly, Skin rash, Proteinuria, Hematuria, Hep... OMIM:105200
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Recurrent sinopulmonary infections, Lymphadenopathy, Increased proportion of transi... OMIM:615513
Immunodeficiency 42
Recurrent aphthous stomatitis, Splenomegaly, Hypoplasia of the thymus, Recurrent cutaneous fungal... OMIM:616622
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent otitis media, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T ce... OMIM:300853
Lamellar Ichthyosis
Abnormality of the dentition, Renal insufficiency, Erythroderma, Everted lower lip vermilion, Rec... ORPHA:313
Mahvash Disease
Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis OMIM:619290
Recurrent pneumonia, Splenomegaly, Trimethylaminuria, Neutropenia, Anemia OMIM:602079
Igg4-Related Thyroid Disease
Graves disease, Euthyroid goiter, Goiter, Sialadenitis, Sclerosing cholangitis, Hashimoto thyroid... ORPHA:64744
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent upper respiratory tract infections, Hemophagocytosis, Hepatosplenomegaly, Splenomegaly,... OMIM:613101
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis OMIM:305800
Familial Cold Autoinflammatory Syndrome 2
Recurrent aphthous stomatitis, Leukocytosis, Skin rash, Splenomegaly, Lymphadenopathy, Arthritis,... OMIM:611762
Aicardi-Goutieres Syndrome 9
Thickened glomerular basement membrane, Hepatosplenomegaly, Chilblains, Hepatic steatosis, Glomer... OMIM:619487
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, 3-Methylglutaconic aciduria OMIM:619813
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Blau Syndrome
Nephropathy, Posterior uveitis, Keratitis, Xerostomia, Abnormality of the liver, Stage 5 chronic ... ORPHA:90340
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Diarrhea, Periodontitis, Carious teeth, Hepatic steatosis, O... ORPHA:79259
Granulomatosis With Polyangiitis
Intestinal obstruction, Hematuria, Prostatitis, Inflammatory abnormality of the eye, Chronic otit... ORPHA:900
Primary Sjögren Syndrome
Arteritis, Xerostomia, Lymphopenia, Chronic hepatitis, Decreased proportion of CD4-positive helpe... ORPHA:289390
Peripheral Primitive Neuroectodermal Tumor
Precocious puberty, Neoplasm of the scrotum, Uterine neoplasm, Pelvic mass, Ascites, Metrorrhagia... ORPHA:370348
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic anemia, Lymphadenopathy, N... OMIM:619220
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Diarrhea, Abnormality of the urethra, Abnormality of neutrophils, Ab... ORPHA:36426
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Abnormal salivary gland morphology ORPHA:3225
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Skin rash, Splenomegaly, Jaundice, Anemia, Lymphadenopathy, Neutropenia, Thromb... OMIM:603552
Inflammatory Skin And Bowel Disease, Neonatal, 1
Bloody diarrhea, Villous atrophy, Duodenitis, Pustule, Erythroderma, Blepharitis OMIM:614328
Sarcoidosis, Susceptibility To, 2
Mediastinal lymphadenopathy, Emphysema, Pleural effusion, Splenomegaly, Pneumothorax, Erythema no... OMIM:612387
Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Neoplasm of the gastroint... ORPHA:99867
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Diarrhea, Vomiting, Methylmalonic aciduria, Leukopenia, Stage 5 chronic kidney disease, Hepatomeg... OMIM:251000
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Hepatosplenomegaly, Thrombocytosis, Erythroderma, Neutrophi... ORPHA:3260
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Secretory diarrhea, Cervical lymphadenopathy, Cholestasis, Lymphopenia, Decre... OMIM:619573
Immunodeficiency 23
Allergic rhinitis, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Molluscum contagiosu... OMIM:615816
Netherton Syndrome
Aminoaciduria, Eczematoid dermatitis, Emphysema, Skin rash, Hydronephrosis, Erythroderma, Recurre... ORPHA:634
Immunodeficiency 27A
Pneumonia, Diarrhea, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased inflammatory respo... OMIM:209950
Caspase 8 Deficiency
Pneumonia, Eczematoid dermatitis, Decreased CD4:CD8 ratio, Splenomegaly, Recurrent sinopulmonary ... OMIM:607271
Cyclic Neutropenia
Recurrent tonsillitis, Periodontitis, Atrophy of alveolar ridges, Cervical lymphadenopathy, Lymph... ORPHA:2686
Gallbladder Disease 1
Hepatic fibrosis, Cholelithiasis, Portal inflammation, Cholestasis, Cholecystitis, Jaundice, Panc... OMIM:600803
Bullous Impetigo
Abnormality of the lymphatic system, Pustule, Glomerulopathy, Septic arthritis, Recurrent bacteri... ORPHA:36237
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Acne, Male infertility ORPHA:3000
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Xerostomia, Abnormality of the submandibular glands, Enlargement of par... ORPHA:79078
Igg4-Related Pachymeningitis
Nephritis, Lymphadenitis, Parotitis, Eosinophilia, Pancreatitis, Sinusitis, Abnormal lung morphol... ORPHA:449427
Bullous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis, Pruritus, Erythroderma ORPHA:280785
Brooke-Spiegler Syndrome
Abnormality of the submandibular glands, Abnormality of the sublingual glands, Salivary gland neo... ORPHA:79493
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Pan... OMIM:603471
Caroli Syndrome
Hypersplenism, Congenital hepatic fibrosis, Cirrhosis, Abnormality of the kidney, Abnormal ductus... ORPHA:480520
Immunodeficiency, Common Variable, 1
Pneumonia, Recurrent pneumonia, Abnormal T cell count, Diarrhea, Recurrent otitis media, Recurren... OMIM:607594
Ethylene Glycol Poisoning
Vomiting, Renal insufficiency, Renal tubular dysfunction, Pulmonary edema, Hematuria, Gastritis, ... ORPHA:31826
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T cells, Hepa... ORPHA:911
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Abnormal T cell count, Diarrhea, Recurrent otitis media, Recurrent bronchiti... OMIM:240500
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Diarrhea, Recurrent aphthous stomatitis, Splenomegal... OMIM:150550
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent upper respiratory tract infections, Recurrent pneumonia, Inflammatory abnormality of th... ORPHA:277
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Diarrhea, Abnormal urinary electrolyte concentration, Abnormal lymph node morphology... ORPHA:85450
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Acute pancreatitis OMIM:608600
Indolent Systemic Mastocytosis
Mastocytosis, Increased proportion of CD25+ mast cells, Skin rash, Maculopapular exanthema, Splen... ORPHA:98848
Pneumonia, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morpholog... ORPHA:3392
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Diarrhea, Recurrent urinary tract infections, Recurrent otitis media, Decreased CD4:CD8 ratio, Sp... OMIM:618495
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Chronic kidney disease, Thick vermilion border, Renal insufficiency, Abnormal renal glomerulus mo... OMIM:137940
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Ascites, Abnormality of the ureter, Narrow mouth, Splenomegaly, Renal hypoplasia/aplasia, Aplasia... ORPHA:1046
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Pancreatitis, Renal tubular acidosis, Organic aciduria, Aspiration pneumonia ORPHA:431361
Primary Sclerosing Cholangitis
Cholestasis, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrhosis, Hepatomegaly, Jaun... ORPHA:171
Visceral Myopathy 1
Microcolon, Vomiting, Diarrhea, Urinary retention, Megacystis, Intestinal pseudo-obstruction, Gas... OMIM:155310
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pleural effusion, Pancreatic calcification, Pancreatitis, Stea... OMIM:167800
Hyperlipoproteinemia, Type Id
Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly, Colitis OMIM:615947
Spondylometaphyseal Dysplasia, Axial
Recurrent pneumonia, Splenomegaly, Reduced sperm motility OMIM:602271
Coproporphyria, Hereditary
Diarrhea, Vomiting, Increased fecal coproporphyrin 3, Elevated urinary coproporphyrin level, Incr... OMIM:121300
Classic Mycosis Fungoides
Eczematoid dermatitis, Abnormal lymphocyte morphology, Skin rash, Splenomegaly, Lymphadenopathy, ... ORPHA:2584
Kikuchi-Fujimoto Disease
Abnormal lymph node morphology, Oral ulcer, Pustule, Neutropenia, Hepatomegaly, Malar rash, Pleur... ORPHA:50918
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Splenomegaly, Recurrent sinusitis, Generalized lymphadenopathy, Absent circulating ... OMIM:620282
Immunodeficiency 69
Diarrhea, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Skin rash, Splenomega... OMIM:618963
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... ORPHA:888
Immunodeficiency 52
Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell co... OMIM:617514
Schnitzler Syndrome
Leukocytosis, Skin rash, Splenomegaly, Anemia, Lymphadenopathy, Arthritis, Hepatomegaly, Pruritus ORPHA:37748
Hypocalciuric Hypercalcemia, Familial, Type Ii
Peptic ulcer, Hypocalciuria, Nephrolithiasis, Parathormone-independent increased renal tubular ca... OMIM:145981
Immunodeficiency 97 With Autoinflammation
Diarrhea, Hemophagocytosis, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Decreased pr... OMIM:619802
Leukocyte Adhesion Deficiency
Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome... ORPHA:2968
Liver Disease, Severe Congenital
Diarrhea, Portal inflammation, Recurrent otitis media, Hepatic steatosis, Pulmonary edema, Abnorm... OMIM:619991
Insulin-Resistance Syndrome Type B
Pneumonia, Nephritis, Biliary cirrhosis, Glycosuria, Leukopenia, Skin rash, Polycystic ovaries, P... ORPHA:2298
Adult Acute Respiratory Distress Syndrome
Pneumonia, Pulmonary edema, Pancreatitis ORPHA:70578
Lysinuric Protein Intolerance
Diarrhea, Hemophagocytosis, Hepatosplenomegaly, Cirrhosis, Glomerulonephritis, Hepatomegaly, Tubu... ORPHA:470
Gastrointestinal hemorrhage, Peptic ulcer, Eczematoid dermatitis, Osteomyelitis, Splenomegaly, An... ORPHA:2796
Citrullinemia Type Ii
Hepatic fibrosis, Diarrhea, Vomiting, Delayed menarche, Hepatic steatosis, Pancreatitis, Hepatome... ORPHA:247585
Systemic-Onset Juvenile Idiopathic Arthritis
Pleural effusion, Skin rash, Splenomegaly, Hepatomegaly, Lymphadenopathy, Arthritis, Juvenile rhe... ORPHA:85414
Immunodeficiency 7
Diarrhea, Recurrent otitis media, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, L... OMIM:615387
Hypocomplementemic Urticarial Vasculitis
Diarrhea, Emphysema, Ascites, Pleural effusion, Renal insufficiency, Splenomegaly, Episcleritis, ... ORPHA:36412
Biotinidase Deficiency
Diarrhea, Vomiting, Organic aciduria, Skin rash, Splenomegaly, Seborrheic dermatitis, Hepatomegal... OMIM:253260
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Hyperhidrosis, Lymphadenopathy, Hepatomegaly, Pruritus ORPHA:86893
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Abnormality of the dentition, Recurrent upper respiratory tract infections, Eczematoid dermatitis... OMIM:615952
Maple Syrup Urine Disease, Type Ia
Vomiting, Pancreatitis, Increased level of hippuric acid in urine, Positive 2,4-dinitrophenylhydr... OMIM:248600
Lysinuric Protein Intolerance
Aminoaciduria, Hyperlysinuria, Diarrhea, Intraalveolar phospholipid accumulation, Hemophagocytosi... OMIM:222700
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, As... ORPHA:567546
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Homocystinuria, Dental crowding, Hepatic steatosis, Pancreatitis, High palate, Methioninuria OMIM:236200
Lymphoproliferative Syndrome 2
Recurrent pneumonia, Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia... OMIM:615122
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Recurrent urinary tract infections, Lymphopenia, Leukopenia, Splenomegaly, Hepatomegaly, Recurren... OMIM:620210
Acute Lung Injury
Pneumonia, Abnormal pulmonary interstitial morphology, Diffuse alveolar hemorrhage, Acute pancrea... ORPHA:178320
Erythroderma, Lethal Congenital
Congenital exfoliative erythroderma OMIM:227090
Alport Syndrome 3A, Autosomal Dominant
Thickened glomerular basement membrane, Nephritis, Nephrocalcinosis, Glomerular basement membrane... OMIM:104200
Hypocalciuric Hypercalcemia, Familial, Type I
Hyperparathyroidism, Hypocalciuria, Nephrolithiasis, Hypercalciuria, Pancreatitis, Parathyroid ad... OMIM:145980
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Abnormality of the urethra, Abnormal vagina morphology, Abnormal ple... ORPHA:537
Infection-Related Hemolytic Uremic Syndrome
Diarrhea, Intestinal perforation, Pleural empyema, Acute kidney injury, Anuria, Gastrointestinal ... ORPHA:544482
Generalized Pustular Psoriasis
Lymphopenia, Renal insufficiency, Leukocytosis, Palmoplantar pustulosis, Pustule, Erythroderma, A... ORPHA:247353
Congenital Ichthyosiform Erythroderma
Pruritus, Keratitis, Erythroderma, Hypohidrosis ORPHA:79394
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Allergic rhinitis, Carious teeth, Exocrine pancreatic insufficiency, Skin rash, Splenomegaly, Ane... OMIM:612714
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Diarrhea, Vomiting, Anuria, Microangiopathic hemolytic anemia, Bloody diarrh... ORPHA:90038
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Diarrhea, Vomiting, Hepatitis, Lymphopenia, Leukopenia, Dysphagia, T... ORPHA:319218
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Splenomegaly, Hepatic steatosis, Polycystic ovaries, Dysmenorrhea, Advanced eruption of teeth, Pa... ORPHA:280365
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Cholecystitis, Sclerosing cholangiti... ORPHA:69663
Gamma-Heavy Chain Disease
Rheumatoid arthritis, Abnormal lymphocyte morphology, Skin rash, Splenomegaly, Autoimmune hemolyt... ORPHA:100026
Inflammatory abnormality of the skin, Diarrhea, Urinary bladder inflammation, Abnormality of the ... ORPHA:556
Letterer-Siwe Disease
Hepatosplenomegaly, Seborrheic dermatitis, Thrombocytopenia, Neutropenia, Anemia, Jaundice, Stoma... OMIM:246400
Simple Cryoglobulinemia
Nephritis, Nephrotic syndrome, Gastrointestinal hemorrhage, Viral hepatitis, Renal insufficiency,... ORPHA:91139
Immunodeficiency 25
Recurrent pneumonia, Protracted diarrhea, Autoimmune hemolytic anemia, Eosinophilia, Erythroderma... OMIM:610163
Pemphigus Foliaceus
Abnormal oral mucosa morphology, Psoriasiform dermatitis, Oral ulcer, Crusting erythematous derma... ORPHA:79481
Chronic Granulomatous Disease
Pyloric stenosis, Abnormality of neutrophils, Eczematoid dermatitis, Splenomegaly, Otitis media, ... ORPHA:379
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Felty Syndrome
Synovitis, Neutropenia, Recurrent pharyngitis, Hepatomegaly, Chronic otitis media, Abnormal lymph... ORPHA:47612
Harlequin Ichthyosis
Eclabion, Recurrent respiratory infections, Erythroderma ORPHA:457
Peeling Skin Syndrome 1
Eosinophilia, Palmoplantar hyperhidrosis, Pruritus, Erythroderma OMIM:270300
Cortisone Reductase Deficiency 1
Acne, Infertility, Oligomenorrhea, Precocious puberty OMIM:604931
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica... OMIM:618534
Transketolase Deficiency
Increased level of ribose in urine, Renal cyst, Seborrheic dermatitis, Hepatomegaly, Conjunctivit... ORPHA:488618
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Vomiting, Erysipelas, Hepatic amyloidosis, Cervical lymphadenopathy,... OMIM:142680
Gray Platelet Syndrome
Abnormality of the menstrual cycle, Splenomegaly, Thrombocytopenia ORPHA:721
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Gout, Nephrolithiasis, ... OMIM:232200
Systemic Lupus Erythematosus
Discoid lupus rash, Leukopenia, Malar rash, Oral ulcer, Hematuria, Proteinuria, Abnormal pigmenta... ORPHA:536
Aicardi-Goutieres Syndrome 6
Chilblains, Splenomegaly, Thrombocytopenia, Hepatomegaly, Hemolytic anemia OMIM:615010
Immunodeficiency 114, Folate-Responsive
Atopic dermatitis, Carious teeth, Lymphopenia, Aphthous ulcer, Lip fissure, Splenomegaly, Megalob... OMIM:620603
Ichthyosis, Congenital, Autosomal Recessive 7
Erythroderma OMIM:615022
Hypocalciuric Hypercalcemia, Familial, Type Iii
Peptic ulcer, Hypocalciuria, Multiple small medullary renal cysts, Renal insufficiency, Nephrolit... OMIM:600740
Ichthyosis With Confetti
Hypoplastic nipples, Pruritus, Erythroderma OMIM:609165
Postinfectious Vasculitis
Pneumonia, Bacterial endocarditis, Inflammatory abnormality of the skin, Orchitis, Hematuria, Pro... ORPHA:48435
Ichthyosis Prematurity Syndrome
Allergic rhinitis, Pruritus, Erythroderma OMIM:608649
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Arthritis, Thrombocytosis, Colitis, Sterile ... OMIM:604416
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Galactosemia Iii
Aminoaciduria, Galactosuria, Vomiting, Splenomegaly, Hepatomegaly, Jaundice OMIM:230350
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Splenomegaly, Proteinuria, Hepatomegaly, Jaundice, Pruritus OMIM:620010
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Skin rash, Splenomegaly, Lymphadenopathy, Hyperhidrosis, Hepatomegal... ORPHA:391
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Oral ulcer, Lymphadenopathy, Hepatomegaly OMIM:618852
Nephronophthisis-Like Nephropathy 1
Tubular basement membrane disintegration, Nephronophthisis, Hyperechogenic kidneys, Stage 5 chron... OMIM:613159
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Pneumonia, Abnormally low T cell receptor excision circle level, Recurrent upper respiratory trac... OMIM:602450
Trichohepatoneurodevelopmental Syndrome
Cholelithiasis, Gastroesophageal reflux, Dental crowding, Downturned corners of mouth, Widely spa... OMIM:618268
Papa Syndrome
Crohn's disease, Proteinuria, Increased inflammatory response, Myositis, Pustule, Lymphadenopathy... ORPHA:69126
Burkitt Lymphoma
Gastrointestinal hemorrhage, Abnormal lymph node morphology, Abnormality of the ovary, Abnormalit... ORPHA:543
Erythrokeratodermia Variabilis Et Progressiva 1
Erythroderma OMIM:133200
Abnormal lymph node morphology, Abnormal pleura morphology, Abnormal reproductive system morpholo... ORPHA:797
Hemochromatosis, Type 2B
Hepatic fibrosis, Hypogonadism, Splenomegaly, Anemia, Cirrhosis, Hepatomegaly, Secondary amenorrhea OMIM:613313
Familial Adenomatous Polyposis
Stomach cancer, Hepatoblastoma, Desmoid tumors, Colorectal polyposis, Abnormal cementum morpholog... ORPHA:733
Crimean-Congo Hemorrhagic Fever
Gingival bleeding, Diarrhea, Morbilliform rash, Pancytopenia, Hematuria, Erythema nodosum, Neutro... ORPHA:99827
Familial Mediterranean Fever
Renal amyloidosis, Diarrhea, Erysipelas, Vomiting, Stage 5 chronic kidney disease, Pleural effusi... OMIM:249100
Hyperparathyroidism-Jaw Tumor Syndrome
Nephrocalcinosis, Peptic ulcer, Renal hamartoma, Pancreatic adenocarcinoma, Abnormal parathyroid ... ORPHA:99880
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Carious teeth, Xerostomia, Ureterocele, Cryptorchidism, Absence of Stensen duct, Duplicated colle... OMIM:129900
Epidermolytic Hyperkeratosis 1
Erythroderma OMIM:113800
Pigmented Nodular Adrenocortical Disease, Primary, 2
Primary hypercortisolism, Pancreatitis, Increased circulating cortisol level, Ovarian cyst OMIM:610475
Alpha-Heavy Chain Disease
Ascites, Abnormal small intestine morphology, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly ORPHA:100025
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Carious teeth, Xerostomia, Ureterocele, Cryptorchidism, Absence of Stensen duct, Duplicated colle... OMIM:604292
Autoinflammation With Infantile Enterocolitis
Diffuse alveolar hemorrhage, Reduced natural killer cell count, Secretory diarrhea, Pancytopenia,... OMIM:616050
Roifman Syndrome
Recurrent pneumonia, Eczematoid dermatitis, Downturned corners of mouth, Long philtrum, Recurrent... OMIM:616651
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Anemia, Lymphadenopath... ORPHA:100024
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Atopic dermatitis, Recurrent pneumonia, Abnormality of the dentition, Eczematoid dermatitis, Cuta... OMIM:618282
Parathyroid Carcinoma
Nephrocalcinosis, Peptic ulcer, Renal hamartoma, Parathyroid carcinoma, Pancreatic adenocarcinoma... ORPHA:143
Ichthyosis, Congenital, Autosomal Recessive 10
Erythroderma OMIM:615024
Cholestasis-Lymphedema Syndrome
Erysipelas, Neonatal cholestatic liver disease, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice OMIM:214900
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant
Erythroderma OMIM:620150
Congenital Lethal Erythroderma
Congenital exfoliative erythroderma ORPHA:1954
Muckle-Wells Syndrome
Nephropathy, Renal amyloidosis, Recurrent aphthous stomatitis, Episcleritis, Splenomegaly, Skin r... ORPHA:575
Congenital Disorder Of Glycosylation, Type If
Thin vermilion border, Renal cortical cysts, Erythroderma OMIM:609180
Candidiasis, Familial, 8
Seborrheic dermatitis, Macroglossia, Cheilitis, Blepharitis, Chronic oral candidiasis OMIM:615527
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Ulcerative colitis, Pancytopenia, Splenomegaly, Chronic d... OMIM:618394
Autoimmune Lymphoproliferative Syndrome, Type Iia
Nephritis, Gastrointestinal hemorrhage, Malar rash, Chronic noninfectious lymphadenopathy, Follic... OMIM:603909
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Eczematoid dermatitis,... OMIM:242700
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... OMIM:612840
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Diarrhea, Pulmonary edema, Hematuria, Glomerulonephritis, Tubulointerstit... ORPHA:340
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Neonatal cholestatic liver disease, Splenomegaly, Biliary tract abno... ORPHA:79301
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia, Neutropenia, He... OMIM:615285
Bathing Suit Ichthyosis
Eclabion, Hypohidrosis, Erythroderma ORPHA:100976
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly, Abnormal pulmonary ... OMIM:607616
Ichthyosis, Congenital, Autosomal Recessive 1
Erythroderma, Everted lower lip vermilion OMIM:242300
Immunodeficiency 115 With Autoinflammation
Eczematoid dermatitis, Intestinal lymphangiectasia, Intermittent diarrhea, Superficial dermal per... OMIM:620632
Narrow palate, Dental malocclusion, Widely spaced teeth, Open bite, Gingival overgrowth, Splenome... ORPHA:61
Yao Syndrome
Uveitis, Inflammatory abnormality of the skin, Xerostomia, Diarrhea, Skin rash, Oral ulcer, Nephr... OMIM:617321
Oxoglutaric Aciduria
Abnormal urine alpha-ketoglutarate concentration, Abnormal salivary gland morphology ORPHA:31
Hemochromatosis, Type 1
Ascites, Azoospermia, Pleural effusion, Splenomegaly, Cardiomegaly, Hypogonadotropic hypogonadism... OMIM:235200
Autosomal Dominant Epidermolytic Ichthyosis
Erythroderma ORPHA:312
Ichthyosis, Congenital, Autosomal Recessive 9
Eclabion, Hypohidrosis, Erythroderma OMIM:615023
Tyrosinemia Type 1
Hepatomegaly, Generalized aminoaciduria, Splenomegaly, Hepatocellular carcinoma ORPHA:882
Monosomy 22
Long philtrum, Hepatosplenomegaly, Open mouth, Aplasia of the thymus, Seborrheic dermatitis, Hype... ORPHA:96123
Follicular Lymphoma
Pleural effusion, Splenomegaly, Lymphadenopathy, Abnormal peritoneum morphology, Mediastinal lymp... ORPHA:545
Ichthyosis, Hystrix-Like, With Deafness
Punctate keratitis, Erythroderma OMIM:602540
Hyperlipoproteinemia, Type I
Vomiting, Hepatosplenomegaly, Splenomegaly, Nausea, Jaundice, Acute pancreatitis OMIM:238600
Majeed Syndrome
Acne, Inflammatory abnormality of the skin, Osteomyelitis, Leukocytosis, Splenomegaly, Proteinuri... ORPHA:77297
Bardet-Biedl Syndrome 20
Male hypogonadism, Bilateral cryptorchidism, Proteinuria, Pancreatitis, Micropenis OMIM:619471
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Diarrhea, Lymphopenia, Jaundice, Abnormal lymphocyte morph... ORPHA:99826
Mycosis Fungoides
Pruritus, Eczematoid dermatitis, Psoriasiform dermatitis, Lymphadenopathy OMIM:254400
Inflammatory Bowel Disease 28, Autosomal Recessive
Hematochezia, Folliculitis, Pyoderma, Oral ulcer, Crohn's disease, Perianal abscess, Enterocoliti... OMIM:613148
Tropical Pancreatitis
Vomiting, Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, N... ORPHA:103918
Majeed Syndrome
Inflammatory abnormality of the skin, Microcytic anemia, Osteomyelitis, Hepatosplenomegaly, Eryth... OMIM:609628
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Anhidrosis, Proteinuria, Episodic hemolytic anemia, Membranopr... ORPHA:251004
Lipodystrophy, Congenital Generalized, Type 2
Clitoral hypertrophy, Labial hypertrophy, Decreased fertility, Splenomegaly, Hepatic steatosis, N... OMIM:269700
Gastrointestinal hemorrhage, Diarrhea, Skin rash, Splenomegaly, Infectious encephalitis, Constipa... ORPHA:99745
Multiple Acyl-Coa Dehydrogenase Deficiency
3-Methylglutaric aciduria, Glutaric aciduria, Acute pancreatitis, Vomiting, Hepatic periportal ne... ORPHA:26791
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Graft Versus Host Disease
Pneumonia, Inflammatory abnormality of the skin, Diarrhea, Hemophagocytosis, Vomiting, Fasciitis,... ORPHA:39812
Familial Chylomicronemia Syndrome
Hepatosplenomegaly, Hepatic steatosis, Recurrent pancreatitis, Perianal abscess, Jaundice, Acute ... ORPHA:444490
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Chronic kidney disease, Carious teeth, IgA deposition in the glomerulus, Anal fissure, Ankyloglos... ORPHA:79408
Lipodystrophy, Congenital Generalized, Type 1
Clitoral hypertrophy, Labial hypertrophy, Splenomegaly, Hepatic steatosis, Nephrolithiasis, Polyc... OMIM:608594
X-Linked Dominant Chondrodysplasia Punctata
Hydronephrosis, Abnormal lung morphology, High palate, Erythroderma ORPHA:35173
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Uveitis, Diarrhea, Vomiting, Erysipelas, Fasciitis, Leukocytosis, Splenomegaly, Skin rash, Orchit... ORPHA:32960
Abnormal oral mucosa morphology, Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morp... ORPHA:507
Hyper-Igd Syndrome
Neutrophilia, Diarrhea, Lymphadenitis, Vomiting, Molluscum contagiosum, Hepatosplenomegaly, Leuko... OMIM:260920
Mirizzi Syndrome
Cholelithiasis, Vomiting, Dark urine, Nausea, Pancreatitis, Gallbladder perforation, Abnormal duc... ORPHA:521219
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormal lymph node morphology, Colon cancer, Goiter, Papillary renal cell carcinoma, Chronic non... ORPHA:97290
Pediatric Systemic Lupus Erythematosus
Diarrhea, Microangiopathic hemolytic anemia, Lymphopenia, Dark urine, Oral ulcer, Hematuria, Neph... ORPHA:93552
Glycogen Storage Disease Ic
Focal segmental glomerulosclerosis, Recurrent upper respiratory tract infections, Inflammation of... OMIM:232240
Ras-Associated Autoimmune Leukoproliferative Disorder
Leukemia, Pancytopenia, Splenomegaly, Follicular hyperplasia, Lymphocytosis, Neutropenia, Monocyt... OMIM:614470
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Psoriasiform dermatitis, Eosinophilic infiltration of the esophagus, Erythroderma, Recurrent resp... OMIM:615508
Adult-Onset Still Disease
Neutrophilia, Bone marrow hypocellularity, Hepatitis, Interstitial pneumonitis, Splenomegaly, Ski... ORPHA:829
Cholelithiasis, Hepatitis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Hypogonadotropic... ORPHA:848
Hypereosinophilic Syndrome, Idiopathic
Splenomegaly, Eosinophilia, Myeloproliferative disorder, Hepatomegaly, Pruritus OMIM:607685
Cholesteryl Ester Storage Disease
Diarrhea, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice, Pruritus, Esophageal varix ORPHA:75234
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Gastrointestinal infarctions, Abnormality of the liver, Renal insuff... ORPHA:91138
Trichothiodystrophy 1, Photosensitive
Hypogonadism, Intestinal obstruction, Triangular mouth, Keratoconjunctivitis sicca, Erythroderma,... OMIM:601675
Scrub Typhus
Renal insufficiency, Skin rash, Splenomegaly, Infectious encephalitis, Lymphadenopathy, Hyperhidr... ORPHA:83317
Cocaine Intoxication
Diffuse alveolar hemorrhage, Acute kidney injury, Vomiting, Gastrointestinal infarctions, Pulmona... ORPHA:90068
Ichthyosis With Erythrokeratoderma
Pruritus, Erythroderma OMIM:620507
Chilblain Lupus
Discoid lupus rash, Inflammatory abnormality of the skin, Chronic myelomonocytic leukemia, Malar ... ORPHA:90280
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Micronodular cirrhosis, Delayed eruption of teeth, Aspiration pneumonia, Ascites, Widely spaced t... OMIM:301072
Immunodeficiency 31C
Protein-losing enteropathy, Diarrhea, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, I... OMIM:614162
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Narrow palate, Hepatic sinusoidal dilatation, Atelectasis, Tented upper lip vermilion, Splenic cy... OMIM:620371
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Diarrhea, Abnormal lymph node morphology, Abnormality of the lymphatic system, Abno... ORPHA:54251
Primary Triglyceride Deposit Cardiomyovasculopathy
Inflammatory abnormality of the skin, Splenomegaly, Renal artery atherosclerosis, Pancreatitis, H... ORPHA:565612
Nephropathy, Focal segmental glomerulosclerosis, Proximal tubulopathy, Diarrhea, Vomiting, Intest... ORPHA:550
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Vomiting, Hepatic steatosis, Splenomegaly, Hepatomegaly OMIM:614480
Fowler Urethral Sphincter Dysfunction Syndrome
Acne, Abnormality of the urethra, Urinary retention, Abnormality of the ovary, Polycystic ovaries... ORPHA:2795
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Nodular regenerative hyperplasia of liver, Usual interstitial pneumonia, Increased mean corpuscul... OMIM:620367
Lymphoproliferative Syndrome, X-Linked, 1
Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp... OMIM:308240
Agammaglobulinemia 9, Autosomal Recessive
Seborrheic dermatitis, Eczematoid dermatitis, Thrombocytopenia, Absent circulating B cells OMIM:619693
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... OMIM:233710
American Trypanosomiasis
Diarrhea, Skin rash, Splenomegaly, Infectious encephalitis, Hepatomegaly, Aganglionic megacolon, ... ORPHA:3386
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Pancytopenia, Splenomegaly, Decreased helper T cell proportion OMIM:183350
Hereditary Chronic Pancreatitis
Pancreatic calcification, Jaundice, Recurrent pancreatitis, Leukocytosis ORPHA:676
Prolidase Deficiency
Recurrent pneumonia, Eczematoid dermatitis, Splenomegaly, Crusting erythematous dermatitis, Prolo... OMIM:170100
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Hyperechogenic kidn... OMIM:616217
Lacrimoauriculodentodigital Syndrome
Bifid uvula, Renal hypoplasia, Carious teeth, Xerostomia, Abnormal salivary gland morphology, Abn... ORPHA:2363
Epidermodysplasia Verruciformis
Pustule, Seborrheic dermatitis, Recurrent skin infections ORPHA:302
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Conjunctivitis, Cirrhosis, Erythroderma OMIM:242150
22Q11.2 Deletion Syndrome
Carious teeth, Narrow mouth, Cryptorchidism, Hypoparathyroidism, Anal atresia, Polycystic kidney ... ORPHA:567
Benign Schwannoma
Abnormal esophagus morphology, Abnormality of the liver, Intestinal polyposis, Abnormal parotid g... ORPHA:252164
Wilson Disease
Hepatitis, Abnormality of the menstrual cycle, Splenomegaly, Hepatic steatosis, Hepatomegaly, Ane... ORPHA:905
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne... OMIM:263200
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... OMIM:233690
Immunodeficiency 32B
Pneumonia, Neutrophilia, Impaired oxidative burst, Splenomegaly, Anemia, Eosinophilia, Monocytope... OMIM:226990
Agammaglobulinemia 8B, Autosomal Recessive
Recurrent pneumonia, B Acute Lymphoblastic Leukemia, Everted upper lip vermilion, Pancytopenia, S... OMIM:619824
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo... ORPHA:3226
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Primary amenorrhea, Hepatomegaly OMIM:612526
Cholestasis, Progressive Familial Intrahepatic, 10
Portal fibrosis, Splenomegaly, Acholic stools, Hepatomegaly, Jaundice, Pruritus OMIM:619868
Immunodeficiency With Hyper-Igm, Type 1
Diarrhea, Absence of lymph node germinal center, Hepatitis, Hemolytic anemia, Splenomegaly, Enter... OMIM:308230
Digeorge Syndrome
Recurrent otitis media, Hepatic steatosis, Ovarian cyst, High palate, Renal dysplasia, High, narr... OMIM:188400
Spinocerebellar Ataxia 34
Erythroderma OMIM:133190
Acquired Generalized Lipodystrophy
Hepatic steatosis, Polycystic ovaries, Proteinuria, Cirrhosis, Hepatomegaly, Panniculitis, Acute ... ORPHA:79086
Viss Syndrome
Cleft soft palate, Chronic constipation, Celiac disease, High palate, Dysphagia, Duodenitis, High... OMIM:619472
Whipple Disease
Mediastinal lymphadenopathy, Uveitis, Diarrhea, Gastrointestinal hemorrhage, Pleuritis, Splenomeg... ORPHA:3452
Erythroderma Desquamativum
Diarrhea, Seborrheic dermatitis ORPHA:314
Reynolds Syndrome
Gastroesophageal reflux, Xerostomia, Ascites, Skin rash, Abnormal gastric mucosa morphology, Infe... ORPHA:779
Immunodeficiency 10
Recurrent pneumonia, Recurrent urinary tract infections, Recurrent otitis media, Splenomegaly, Au... OMIM:612783
Lymphoproliferative Syndrome 1
Hemophagocytosis, Pancytopenia, Leukopenia, Pleural effusion, Splenomegaly, Decreased proportion ... OMIM:613011
Phoar2-Enteropathy Syndrome
Secretory diarrhea, Seborrheic dermatitis, Acne, Hyperhidrosis OMIM:614441
Trichorhinophalangeal Syndrome, Type Ii
Recurrent pneumonia, Recurrent upper respiratory tract infections, Vomiting, Gastroesophageal ref... OMIM:150230
Chronic Mucocutaneous Candidiasis
Hepatitis, Abnormal vagina morphology, Recurrent urinary tract infections, Abnormal lip morpholog... ORPHA:1334
Renal-Hepatic-Pancreatic Dysplasia 1
Cholestasis, Cirrhosis, Hepatomegaly, Polycystic kidney dysplasia, Renal dysplasia, Bile duct pro... OMIM:208540
Complement Component 5 Deficiency
Intractable diarrhea, Generalized seborrheic dermatitis OMIM:609536
Nail-Patella Syndrome
Cleft upper lip, Renal insufficiency, Hematuria, Proteinuria, Glomerulonephritis, Nephrotic syndr... OMIM:161200
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Recurrent otitis media, Recurrent... OMIM:301078
Melkersson-Rosenthal Syndrome
Inflammatory abnormality of the skin, Oligosacchariduria, Furrowed tongue, Lymphadenopathy, Macro... ORPHA:2483
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Abnormality of the lymphatic system, Seborrheic dermatitis, Ovarian serous cystad... ORPHA:276280
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Pneumonia, Abnormally low T cell receptor excision circle level, Reduced natural killer cell coun... ORPHA:276
Common Variable Immunodeficiency
Pneumonia, Chronic otitis media, Emphysema, Lymphopenia, Abnormality of the liver, Recurrent bron... ORPHA:1572
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hemophagocytosis, Colon cancer, Hepatosplenomegaly, Pancytopen... ORPHA:158057
Kaposiform Lymphangiomatosis
Pancreatic cysts, Hepatosplenomegaly, Pleural effusion, Splenomegaly, Abnormal lymphatic vessel m... ORPHA:464329
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Hepatic cysts, Eosinophilia, Erythroderma, Anal atresia OMIM:617425
Immunodeficiency 54
Reduced natural killer cell count, Adrenal insufficiency, Splenomegaly, Adrenocorticotropic hormo... OMIM:609981
Ichthyosis, Congenital, Autosomal Recessive 5
Erythroderma, Acanthocytosis OMIM:604777
Familial Tumoral Calcinosis
Abnormality of the dentition, Nephrocalcinosis, Skin rash, Splenomegaly, Abnormal palate morpholo... ORPHA:53715
Granulomatous Disease, Chronic, X-Linked
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Atelectasis, Ascit... OMIM:306400
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of the hepatic vascul... ORPHA:64743
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:66661
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Pyloric stenosis, Cholelithiasis, Severe B lymphocytopenia, Eczematoid dermatitis, Pancreatic hyp... ORPHA:83617
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Splenomegaly, Jaundice, Pruritus OMIM:619658
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Recurrent bronchitis, Pancolitis, Perianal abscess, Enterocolitis, Enterocutaneous ... OMIM:612567
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Sideroblastic anemia, Azoospermia, Splenomegaly, Anemia, Elevated hepatic iron conc... OMIM:615234
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Allergic rhinitis, Atopic dermatitis, Recurrent pneumonia, Reduced natural killer cell count, Ecz... OMIM:243700
Congenital Rubella Syndrome
Skin rash, Splenomegaly, Abnormality of the pulmonary artery, Anemia, Thrombocytopenia, Hepatomeg... ORPHA:290
Hurler-Scheie Syndrome
Hepatomegaly, Rhinitis, Abnormality of the tonsils, Splenomegaly ORPHA:93476
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Portal fibrosis, Biliary cirrhosis, Cholestasis, Ascites, Vesicoureter... OMIM:617394
Congenital Disorder Of Glycosylation, Type Iiw
Moderate albuminuria, Gastroesophageal reflux, Vomiting, Increased hepatic echogenicity, Recurren... OMIM:619525
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Elevated urinary prostaglandin E2 level, Secretory diarrhea, Seborrheic dermatitis, Hyperhidrosis... OMIM:167100
Increased fecal harderoporphyrin, Vomiting, Increased urinary porphobilinogen, Splenomegaly, Red ... OMIM:618892
3-Hydroxy-3-Methylglutaric Aciduria
3-Methylglutaric aciduria, Diarrhea, Ketonuria, Leukopenia, Leukocytosis, Lipid accumulation in h... ORPHA:20
Inflammatory abnormality of the skin, Diarrhea, Long philtrum, Splenomegaly, Thin upper lip vermi... ORPHA:79332
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Neonatal cholestatic liver diseas... ORPHA:1414
Erythroleukemia, Familial, Susceptibility To
Leukemia, Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, ... OMIM:133180
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Hypocalcification of dental enamel, Splenomegaly, Amelogenesis imperfecta, Lymphadenop... ORPHA:169090
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix OMIM:617068
Copper Deficiency, Familial Benign
Anemia, Seborrheic dermatitis OMIM:121270
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate production, Hepatomega... OMIM:237800
Griscelli Syndrome
Bone marrow hypocellularity, Hepatitis, Ascites, Leukopenia, Splenomegaly, Lymphadenopathy, Throm... ORPHA:381
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Anemia of inadequa... ORPHA:231222
Lymphoid Interstitial Pneumonia
Rheumatoid arthritis, Eczematoid dermatitis, Subpleural interstitial thickening, Respiratory trac... ORPHA:79128
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy... ORPHA:158029
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Ascites, Gastrointestinal infarctions, Portal hypertension, Splenome... ORPHA:131
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Pneumonia, Recurrent pneumonia, Inflammatory abnormality of the skin, Severe B lymphocytopenia, C... OMIM:102700
Familial Hypocalciuric Hypercalcemia
Peptic ulcer, Hypocalciuria, Hypomagnesiuria, Nephrolithiasis, Parathormone-independent increased... ORPHA:405
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemoglobin, Splenomegaly, Erythroc... OMIM:603902
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Splenomegaly, Pyloric stenosis ORPHA:664
Ichthyosis, Congenital, Autosomal Recessive 6
Hypohidrosis, Erythroderma OMIM:612281
Gout, Hepatic steatosis, Renal steatosis, Hypothyroidism, Hepatomegaly, Acute pancreatitis ORPHA:412
Tropical Calcific Pancreatitis
Pancreatic calcification, Chronic pancreatitis, Neoplasm of the pancreas OMIM:608189
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Diarrhea, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly,... OMIM:601847
Cholestasis, Progressive Familial Intrahepatic, 9
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Diarrhea, Micronodular cirrho... OMIM:619849
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Eczematoid dermatitis, Seborrheic dermatitis, Hyperhidrosis, Arthritis, High palate OMIM:259100
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Diarrhea, Ascites, Splenomegaly, ... OMIM:602347
Good Syndrome
Thymoma, Diarrhea, Aplasia/Hypoplasia of the thymus, Recurrent urinary tract infections, Abnormal... ORPHA:169105
Cold Agglutinin Disease
Diarrhea, Abnormal urinary color, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic anemia ORPHA:56425
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
High, narrow palate, Eczematoid dermatitis, Delayed eruption of teeth, Thick lower lip vermilion,... ORPHA:369950
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased libido, Portal hypertension, Splenomegaly, Cardiomegaly, Hypogonadotropic hypogonadism,... ORPHA:465508
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Recurrent upper respiratory tract infections, Interstitial pneumonitis, Splenomegaly, Anemia, Hep... OMIM:620296
Q Fever
Pneumonia, Hepatitis, Osteomyelitis, Hepatosplenomegaly, Abnormality of the liver, Pleural effusi... ORPHA:781
Alström Syndrome
Chronic kidney disease, Testicular fibrosis, Decreased circulating T4 concentration, Hepatospleno... ORPHA:64
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteomyelitis, Splenomegaly, Skin rash, Pustule, Neutrophilia, Hepatomegaly, Pulmonary fibrosis, ... OMIM:612852
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Duplicated collecting system, Downturned corners of mouth, Widely spaced teeth, Gingival overgrow... OMIM:300868
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Protein-losing enteropathy, Abnormality of the uterus, Pancreatic lymphangiectasis, Vaginal atres... ORPHA:1655
Acute Generalized Exanthematous Pustulosis
Pruritus, Cholestasis, Predominantly dermal neutrophilic infiltrate, Renal insufficiency, Leukocy... ORPHA:293173
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Priapism, Increased red cell sickling tendency, Renal insuffi... OMIM:603903
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Splenomegaly, Skin rash, Myositis, Anemia, Lymphadenopathy, Arthritis, Sinusitis, He... OMIM:617591
Purine Nucleoside Phosphorylase Deficiency
Pneumonia, Recurrent upper respiratory tract infections, Decreased urinary urate, Recurrent urina... OMIM:613179
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Irregular menstruation, Hepatic fibrosis, Portal fibrosis, Diarrhea, Vomiting, Cholestasis, Splen... ORPHA:264580
Seborrhea-Like Dermatitis With Psoriasiform Elements
Seborrheic dermatitis OMIM:610227
Scheie Syndrome
Splenomegaly, Mucopolysacchariduria, Everted lower lip vermilion, Thick vermilion border, Hepatom... ORPHA:93474
Neonatal Lupus Erythematosus
Aplastic anemia, Abnormality of the liver, Malar rash, Pancytopenia, Skin rash, Splenomegaly, Ane... ORPHA:398124
Intestinal bleeding, Recurrent otitis media, Enlargement of parotid gland, Abnormal biliary tract... ORPHA:252183
Immunodeficiency 36 With Lymphoproliferation
Recurrent upper respiratory tract infections, Lymphopenia, Splenomegaly, Chronic lymphatic leukem... OMIM:616005
Whim Syndrome
Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Lymphadenitis, Atel... ORPHA:51636
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Nephritis, Recurrent pneumonia, Bone marrow hypocellularity, ... OMIM:617303
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Autoimmune hemolytic anemia, Myositis, Lymphadenopathy, Hepatomegaly, Panniculitis OMIM:619183
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Oral ulcer, Erythema nodos... OMIM:615688
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Protein-losing enteropathy, Pancreatic lymphangiectasis, Ascites, Splenomegaly, Cryptorchidism, A... OMIM:235255
Seckel Syndrome 10
Elevated circulating luteinizing hormone level, Glycosuria, Hepatic steatosis, Elevated circulati... OMIM:617253
T-Cell Immunodeficiency With Thymic Aplasia
Pneumonia, Diarrhea, Eczematoid dermatitis, Recurrent urinary tract infections, Recurrent infecti... ORPHA:83471
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of a... ORPHA:231154
Cholestasis, Progressive Familial Intrahepatic, 1