Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Top3b MGI:1333803

Gene Summary

Name:

topoisomerase (DNA) III beta

Synonyms:

Topo III beta

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

No results meet the p-value threshold

No results to display

Select physiological systems to view:

Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Legacy Phenotype Associated Images

Top3b^{gt(DC0348)SIGTR}
body, WT, Male, WTSI

Top3b^{gt(DC0348)SIGTR}
head, WT, Male, WTSI

Top3b^{gt(DC0348)SIGTR}
forearm, HOM, Female, WTSI

Top3b^{gt(DC0348)SIGTR}
head, HOM, Male, WTSI

Top3b^{gt(DC0348)SIGTR}
forearm, HOM, Male, WTSI

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.

Human diseases associated with Top3b (0 diseases)
Human diseases predicted to be associated with Top3b (640 diseases)

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	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
Melioidosis	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
Zygomycosis	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
Microsporidiosis	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
Brucellosis	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
Coccidioidomycosis	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
Pgm3-Cdg	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
Trimethylaminuria	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
Thymoma	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
Tularemia	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
Pachydermoperiostosis	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
Malakoplakia	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
Sarcoidosis	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
Alpha-Mannosidosis	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
Typhoid	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
Leishmaniasis	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
Beta-Thalassemia	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
Melas	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
Harderoporphyria	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
B4Galt1-Cdg	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
Dysbetalipoproteinemia	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
Neurofibroma	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	Cholelithiasis, Diarrhea, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundic...	OMIM:211600
Trichothiodystrophy	High, narrow palate, Carious teeth, Eczematoid dermatitis, Increased mean corpuscular hemoglobin ...	ORPHA:33364
Bile Acid Synthesis Defect, Congenital, 1	Giant cell hepatitis, Intrahepatic cholestasis, Diarrhea, Splenomegaly, Cirrhosis, Acholic stools...	OMIM:607765
Osteopetrosis, Autosomal Dominant 3	Hyperparathyroidism, Splenomegaly, Gingivitis, Anemia, Hepatomegaly, Premature loss of teeth	OMIM:618107
Thrombocytopenia-Absent Radius Syndrome	Dilatation of the renal pelvis, Meckel diverticulum, Horseshoe kidney, Hepatosplenomegaly, Vesico...	OMIM:274000
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Lymphopenia, Hepatosplenomegaly, Cryptorchidism, Oral ulcer, Neutropenia, Hepatomegaly, Recurrent...	OMIM:612541
Goodpasture Syndrome	Reticular pattern on pulmonary HRCT, Glomerular crescent formation, Erythrocyte cylindruria, Pulm...	OMIM:233450
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Cholestasis, Abnormal dental enamel morphology, Portal hypertension, Splenomegaly, Oligodontia, H...	ORPHA:59303
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Vomiting, Cholesta...	ORPHA:53035
Hennekam Syndrome	Abnormal oral mucosa morphology, Chylothorax, Erysipelas, Delayed eruption of teeth, Tooth agenes...	ORPHA:2136
Neutral Lipid Storage Disease With Myopathy	Hepatomegaly, Hepatic steatosis, Chronic pancreatitis, Splenomegaly	OMIM:610717
Autosomal Recessive Polycystic Kidney Disease	Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun...	ORPHA:731
Gaucher Disease Type 1	Splenic infarction, Gingival bleeding, Cholelithiasis, Ascites, Hepatosplenomegaly, Hypersplenism...	ORPHA:77259
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Reticulocytosis, Nonspherocytic h...	OMIM:235700
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Inflammatory abnormality of the skin, Diarrhea, Lymphopenia, Hepatosplenomegaly, Abnormal intesti...	ORPHA:391487
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Diarrhea, Vomiting, Increased h...	OMIM:278000
Splenoportal Vascular Anomalies	Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system	OMIM:271500
Scorpion Envenomation	Acute kidney injury, Diarrhea, Ketonuria, Glycosuria, Priapism, Vomiting, Pulmonary edema, Hyperh...	ORPHA:466677
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Cleft soft palate, Bilateral...	OMIM:301068
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly, Thrombocyt...	OMIM:619463
Hermansky-Pudlak Syndrome 2	Recurrent pneumonia, Reduced natural killer cell count, Periodontitis, Enlarged platelet dense gr...	OMIM:608233
Autoimmune Lymphoproliferative Syndrome	Chronic noninfectious lymphadenopathy, Splenomegaly, Follicular hyperplasia, Autoimmune hemolytic...	OMIM:601859
Chondrodysplasia Punctata 2, X-Linked Dominant	Hydronephrosis, Erythroderma	OMIM:302960
Dubin-Johnson Syndrome	Abnormal urinary color, Abnormality of the liver, Abnormal gastric mucosa morphology, Biliary tra...	ORPHA:234
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Irregular menstruation, Hepatic fibrosis, Diarrhea, Vomiting, Splenomegaly, Renal tubular acidosi...	ORPHA:79240
Mucopolysaccharidosis, Type Ii	Recurrent pneumonia, Diarrhea, Intestinal pseudo-obstruction, Delayed eruption of teeth, Thick lo...	OMIM:309900
Macrophage Activation Syndrome	Hepatitis, Hemophagocytosis, Splenomegaly, Increased inflammatory response, Hepatomegaly, Anemia,...	ORPHA:158061
Poikiloderma With Neutropenia	Recurrent pneumonia, Carious teeth, Long philtrum, Recurrent otitis media, Leukopenia, Splenomega...	OMIM:604173
Wolman Disease	Ascites, Adrenal insufficiency, Splenomegaly, Anemia, Hepatomegaly, Bone-marrow foam cells, Esoph...	ORPHA:75233
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Long philtrum, Cholestasis, Decreased circula...	OMIM:610199
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No...	OMIM:613470
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatic fibrosis, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cholangitis, Oligodo...	OMIM:607626
Adams-Oliver Syndrome 6	Hepatic fibrosis, Renal hypoplasia, Portal hypertension, Splenomegaly, Esophageal varix	OMIM:616589
Macrocephaly/Autism Syndrome	Long philtrum, Recurrent otitis media, Lymphopenia, Penile freckling, Splenomegaly, Hepatomegaly,...	OMIM:605309
Hb Bart'S Hydrops Fetalis	Abnormal hemoglobin, Splenomegaly, Anemia, Hepatomegaly, Pericarditis	ORPHA:163596
Coach Syndrome 1	Unilateral renal agenesis, Hepatic fibrosis, Nephronophthisis, Abnormal abdomen morphology, Multi...	OMIM:216360
Refractory Celiac Disease	Normocytic anemia, Protein-losing enteropathy, Inflammatory abnormality of the skin, Jejunitis, M...	ORPHA:398063
Congenital Pulmonary Lymphangiectasia	Gastroesophageal reflux, Ascites, Pleural effusion, Splenomegaly, Hepatomegaly	ORPHA:2414
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231242
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hematochezia, Diarrhea, Hepatitis, Splenomeg...	OMIM:613812
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Splenomegaly, Chol...	OMIM:266200
Poems Syndrome	Abnormality of skin physiology, Visceromegaly, Polycythemia, Increased circulating prolactin conc...	ORPHA:2905
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Hyperglycinuria, Vomiting, Ketonuria, Organic aciduria, Seborrheic dermatitis	OMIM:210210
Yellow Fever	Acute kidney injury, Diarrhea, Vomiting, Anuria, Pancreatic hyperplasia, Renal insufficiency, Ski...	ORPHA:99829
Histiocytosis-Lymphadenopathy Plus Syndrome	Pancreatic hypoplasia, Cervical lymphadenopathy, Decreased response to growth hormone stimulation...	OMIM:602782
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Vomiting, Polysplenia, Exocrine pancreatic insuffici...	OMIM:619418
Wiskott-Aldrich Syndrome	Nephropathy, Gingival bleeding, Inflammation of the large intestine, Abnormal eosinophil morpholo...	ORPHA:906
Tafro Syndrome	Ascites, Hepatosplenomegaly, Pleural effusion, Splenomegaly, Renal insufficiency, Leukocytosis, A...	ORPHA:457077
Mucopolysaccharidosis Type 6	Recurrent upper respiratory tract infections, Thick lower lip vermilion, Splenomegaly, Mucopolysa...	ORPHA:583
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice	OMIM:224100
Felty Syndrome	Rheumatoid arthritis, Splenomegaly, Neutropenia	OMIM:134750
Lipodystrophy, Familial Partial, Type 2	Labial pseudohypertrophy, Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Acute pancreatitis	OMIM:151660
Transaldolase Deficiency	Hepatic fibrosis, Clitoral hypertrophy, Micronodular cirrhosis, Hepatosplenomegaly, Pancytopenia,...	OMIM:606003
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Splenomega...	ORPHA:251380
Polyposis of gastric fundus without polyposis coli	Multiple gastric polyps, Abnormal gastric mucosa morphology	OMIM:175505
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Recurrent pneumonia, Absent natural killer cells, Lymphopenia, Hepatosplenomegaly, Recurrent infe...	ORPHA:35078
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Hepatitis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, Ret...	OMIM:194380
Glycerol Kinase Deficiency	Vomiting, Downturned corners of mouth, Increased urinary glycerol, Adrenal insufficiency, Chronic...	OMIM:307030
Lynch Syndrome	Gastrointestinal hemorrhage, Pituitary adenoma, Colon cancer, Pancreatic adenocarcinoma, Endometr...	ORPHA:144
Centrifugal Lipodystrophy	Inflammatory abnormality of the skin, Lymphadenitis	ORPHA:90156
Dominant Beta-Thalassemia	Diarrhea, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopi...	ORPHA:231226
Oculoskeletodental Syndrome	Protein-losing enteropathy, Renal agenesis, Splenomegaly, Cryptorchidism, Oligodontia, Hypercalci...	OMIM:618440
Immunodeficiency 17	Abnormal B cell morphology, Anoperineal fistula, Eczematoid dermatitis, Recurrent otitis media, D...	OMIM:615607
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration...	ORPHA:822
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Anemia, Cirrhosis, Elevate...	OMIM:616860
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Hematochezia, Recurrent pneumonia, Inflammation of the large inte...	OMIM:617718
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukopenia, Skin rash, Splenomegaly, Infectio...	OMIM:603553
Dyskeratosis Congenita	Carious teeth, Periodontitis, Displacement of the urethral meatus, Cirrhosis, Hepatomegaly, Esoph...	ORPHA:1775
Mullerian Aplasia And Hyperandrogenism	Unilateral renal agenesis, Aplasia of the fallopian tube, Aplasia of the vagina, Aplasia of the u...	OMIM:158330
Chops Syndrome	High, narrow palate, Gastroesophageal reflux, Downturned corners of mouth, Long philtrum, Aspirat...	OMIM:616368
Autoinflammation With Arthritis And Dyskeratosis	Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Punctate keratitis, Keratoconjuncti...	OMIM:617388
Gastrointestinal Stromal Tumor	Gastrointestinal hemorrhage, Neoplasm of the colon, Abnormality of the liver, Skin rash, Intestin...	ORPHA:44890
Nodular Non-Suppurative Panniculitis	Inflammatory abnormality of the eye, Hepatomegaly, Panniculitis, Splenomegaly	ORPHA:33577
Plague	Inflammation of the large intestine, Diarrhea, Lymphadenitis, Vomiting, Chapped lip, Bloody diarr...	ORPHA:707
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome...	ORPHA:846
Chediak-Higashi Syndrome	Periodontitis, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Gingivitis,...	OMIM:214500
Lipodystrophy, Familial Partial, Type 7	Spontaneous pneumothorax, Diarrhea, Vomiting, Pleural effusion, Narrow mouth, Pulmonary arteriove...	OMIM:606721
Treacher Collins Syndrome 1	Cleft soft palate, Narrow mouth, Cryptorchidism, Wide mouth, Abnormal parotid gland morphology, C...	OMIM:154500
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hemophagocytosis, Pancytopenia, Splenomegaly, Anemia, Panniculitis	OMIM:618398
Isolated Biliary Atresia	Periportal fibrosis, Cholestasis, Hypopituitarism, Atretic gallbladder, Splenomegaly, Prolonged n...	ORPHA:30391
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:79292
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Peptic ulcer, Diarrhea, Chronic myelomonocytic leukemia, Leukocytosis, Splenom...	ORPHA:98849
Mucopolysaccharidosis Type 7	Hepatitis, Ascites, Abnormal pleura morphology, Splenomegaly, Mucopolysacchariduria, Recurrent re...	ORPHA:584
8P11.2 Deletion Syndrome	Hypogonadism, Azoospermia, Splenomegaly, Cryptorchidism, Hypogonadotropic hypogonadism, Spherocyt...	ORPHA:251066
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Diarrhea, Splenomegaly, Hepatomegaly, Jaundice, Steatorrhea	OMIM:235555
Generalized Glucocorticoid Resistance Syndrome	Precocious puberty, Increased circulating cortisol level, Increased urinary cortisol level, Femal...	ORPHA:786
Lacrimoauriculodentodigital Syndrome 1	Carious teeth, Xerostomia, Renal agenesis, Lacrimal gland hypoplasia, Aplasia of the parotid glan...	OMIM:149730
Tyrosinemia, Type I	Nephrocalcinosis, Gastrointestinal hemorrhage, Elevated urinary succinylacetone level, Ascites, R...	OMIM:276700
Polycythemia Vera	Gastrointestinal hemorrhage, Increased hematocrit, Leukocytosis, Splenomegaly, Increased red bloo...	OMIM:263300
Autoinflammatory Disease, Systemic, With Vasculitis	Diarrhea, Cholestasis, Hepatosplenomegaly, Oral ulcer, Hepatomegaly, Jaundice, Epididymitis, Incr...	OMIM:620376
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Unilateral renal agenesis, Recurrent upper respiratory tract infections, Multicystic kidney dyspl...	OMIM:308205
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato...	OMIM:613673
Beta-Thalassemia Major	Diarrhea, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopi...	ORPHA:231214
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Recurrent respiratory infections, Intraalveolar phospholipid accumulation, Splenomegaly, Leukocyt...	OMIM:618042
Neutral Lipid Storage Myopathy	Chronic pancreatitis, Hepatic steatosis, Cholecystitis, Pineal cyst, Hepatomegaly	ORPHA:98908
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Gingival bleeding, Stomatocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Menorrhagia,...	OMIM:153670
Interstitial Granulomatous Dermatitis With Arthritis	Inflammatory abnormality of the skin, Pruritus, Rheumatoid arthritis	ORPHA:79099
Gray Platelet Syndrome	Thrombocytopenia, Abnormal number of alpha granules, Splenomegaly, Menorrhagia	OMIM:139090
Darier-White Disease	Pruritus, Enlargement of parotid gland	OMIM:124200
Hereditary Orotic Aciduria	Aminoaciduria, Oroticaciduria, Abnormality of the ureter, Splenomegaly, Orotic acid crystalluria,...	ORPHA:30
Vexas Syndrome	Arteritis, Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Macrocyti...	OMIM:301054
Proteasome-Associated Autoinflammatory Syndrome 1	Irregular menstruation, Macroglossia, Recurrent upper respiratory tract infections, Parotitis, Re...	OMIM:256040
Smith-Lemli-Opitz Syndrome	Small scrotum, Recurrent otitis media, Cryptorchidism, Hepatic steatosis, Cirrhosis, Duplicated c...	OMIM:270400
Nk-Cell Enteropathy	Hematochezia, Colonic diverticula, Diarrhea, Gastroesophageal reflux, Stercoral ulcer, Abnormal g...	ORPHA:263665
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Glycogen Storage Disease Xii	Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Hepatomegaly, Decreased erythrocy...	OMIM:611881
Reynolds Syndrome	Gastrointestinal hemorrhage, Biliary cirrhosis, Cholestasis, Lymphopenia, Splenomegaly, Lip telan...	OMIM:613471
Primary Biliary Cholangitis	Hepatic fibrosis, Biliary cirrhosis, Hepatitis, Celiac disease, Steatorrhea, Ascites, Portal hype...	ORPHA:186
Hyperparathyroidism, Neonatal Severe	Aminoaciduria, Splenomegaly, Hyperphosphaturia, Anemia, Hypercalciuria, Constipation, Polyuria, H...	OMIM:239200
Gaucher Disease, Type Ii	Bronchiolitis, Gastroesophageal reflux, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly, Rec...	OMIM:230900
Pearson Syndrome	Pancytopenia, Hepatic steatosis, Neutropenia, Hepatomegaly, Hypoparathyroidism, Hypoplastic splee...	ORPHA:699
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Bacterial endocarditis, Cholelithiasis, Hepatic fibrosis, Abnormality of the spleen, Hepatospleno...	ORPHA:2072
Cystinosis, Nephropathic	Hematuria, Hepatomegaly, Dysphagia, Male infertility, Aminoaciduria, Generalized aminoaciduria, M...	OMIM:219800
Ectodermal Dysplasia And Immunodeficiency 2	Conical tooth, Recurrent infection of the gastrointestinal tract, Splenomegaly, Hypodontia, Hypoh...	OMIM:612132
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Multiple Myeloma	Nephropathy, Acute kidney injury, Functional abnormality of the gastrointestinal tract, Pleural e...	ORPHA:29073
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Aminoaciduria, Renal hypoplasia, Nephrocalcinosis, Gastroesophageal reflux, Renal artery stenosis...	OMIM:617913
Spherocytosis, Type 1	Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:182900
Meckel Syndrome, Type 1	Natal tooth, Abnormality of the ureter, Cryptorchidism, Anal atresia, Polycystic kidney dysplasia...	OMIM:249000
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Splenomegaly, Reticulocytosis, Anisocytosis, Prolonged neonatal jaundice, Fava bean...	OMIM:300908
Pancreatoblastoma	Vomiting, Diarrhea, Abnormal lymph node morphology, Pancreatic calcification, Jaundice	ORPHA:677
African Trypanosomiasis	Diarrhea, Hepatosplenomegaly, Hepatomegaly, Jaundice, Urinary incontinence, Renal insufficiency, ...	ORPHA:3385
Uremic Pruritus	Chronic kidney disease, Inflammatory abnormality of the skin, Stage 5 chronic kidney disease, Rec...	ORPHA:94059
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Microcolon, Hypogonadism, Ileus, Splenomegaly, Aganglionic megacolon, Hypohidrosis, Constipation,...	ORPHA:163746
Hepatoerythropoietic Porphyria	Seborrhoeic blepharitis, Red-brown urine, Purple urine, Erythrodontia, Erythroid hyperplasia, Spl...	ORPHA:95159
Oculogastrointestinal Muscular Dystrophy	Intestinal pseudo-obstruction, Gastroparesis, Abnormal gastric mucosa morphology, Abnormality of ...	ORPHA:1876
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Inflammatory abnormality of the skin, Xerostomia, Diarrhea, Oral-pharyngeal dysphagia, Hematuria,...	ORPHA:95455
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Williams Syndrome	Carious teeth, Open bite, Cryptorchidism, Polycystic ovaries, Everted lower lip vermilion, Chroni...	ORPHA:904
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Premature loss of primary teeth, Splenomegaly, Otitis media, Chronic r...	ORPHA:667
Congenital Erythropoietic Porphyria	Seborrhoeic blepharitis, Red-brown urine, Purple urine, Erythrodontia, Leukopenia, Increased urin...	ORPHA:79277
Porphyria, Congenital Erythropoietic	Cholelithiasis, Erythrodontia, Reduced erythrocyte uroporphyrinogen III cosynthase activity, Sple...	OMIM:263700
Beckwith-Wiedemann Syndrome	Nephropathy, Cryptorchidism, Hepatoblastoma, Hepatomegaly, Visceromegaly, Polycythemia, Abnormal ...	ORPHA:116
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hepatomegaly, P...	OMIM:185000
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Villous atrophy, Portal hypertension, Hepatic steatosis, Spleno...	ORPHA:567983
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of	Enlargement of parotid gland	OMIM:600343
Aspartylglucosaminuria	Abnormality of the dentition, Carious teeth, Aspartylglucosaminuria, Gingival overgrowth, Splenom...	ORPHA:93

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Top3b

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Top3b.

There are 2 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Top3b^{gt(DC0348)SIGTR}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Top3b^{gt(DC0348)SIGTR}	PMC6459510

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Top3b^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Top3b^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Top3b^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us