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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

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lacZ Expression

Expression data not available

Associated Images

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

Legacy Phenotype Associated Images

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	Autoimmune hemolytic anemia, Hepatomegaly, Recurrent lower respiratory tract infections, Lymphade...	OMIM:616100
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Crohn's disease, Optic neuritis, Splenomegaly, Psoriasiform dermatitis, Thyroiditis, Atopic derma...	ORPHA:436159
Idiopathic Non-Lupus Full-House Nephropathy	Acute kidney injury, Glomerular C3 deposition, Arthritis, Skin rash, Oral ulcer, Abnormal glomeru...	ORPHA:567544
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Immunodeficiency 104	Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Gastroesophageal reflux, Diarrhea, Oral ul...	OMIM:608971
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Thyroiditis...	OMIM:619375
Complement Component 3 Deficiency, Autosomal Recessive	Recurrent tonsillitis, Nephrotic syndrome, Recurrent pneumonia, Membranoproliferative glomerulone...	OMIM:613779
Mixed Connective Tissue Disease	Myocarditis, Abnormal pulmonary interstitial morphology, Hepatomegaly, Gastritis, Gastrointestina...	ORPHA:809
Autoimmune Lymphoproliferative Syndrome, Type Iii	Recurrent sinusitis, Splenomegaly, Stage 5 chronic kidney disease, Hepatosplenomegaly, Increased ...	OMIM:615559
Immunodeficiency 57 With Autoinflammation	Perianal abscess, Gastritis, Diarrhea, B lymphocytopenia, Skin rash, T lymphocytopenia, Inflammat...	OMIM:618108
Immunodeficiency, Common Variable, 8, With Autoimmunity	Chronic diarrhea, Chronic neutropenia, Recurrent sinusitis, Splenomegaly, Erythema nodosum, Pancy...	OMIM:614700
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Abnormal intestine morphology, Splenomegaly, Psoriasiform dermatitis, Neutropenia, Thyroiditis, R...	ORPHA:37042
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Chronic oral candidiasis, Premature ovarian insufficiency, Hypoparathyroidism, Cholelithiasis, Ch...	OMIM:240300
C3 Glomerulopathy 3	Mesangial matrix expansion, Glomerular subendothelial electron-dense deposits, Glomerular C3 depo...	OMIM:614809
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Perianal abscess, Anal fissure, Recurrent tonsillitis, Lymphadenopathy, Crohn's disease, Oral ulc...	OMIM:618935
Melioidosis	Lung abscess, Unusual skin infection, Pneumonia, Prostatitis, Liver abscess, Acute infectious pne...	ORPHA:31202
Immunodeficiency 51	Chronic oral candidiasis, Recurrent otitis media, Recurrent bronchitis, Chronic mucocutaneous can...	OMIM:613953
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Recurrent sinusitis, Recurrent pneumonia, Recurrent sinopulmonary in...	OMIM:616576
Immunodeficiency 91 And Hyperinflammation	Intermittent diarrhea, Abnormal pulmonary interstitial morphology, Hepatomegaly, Hemolytic-uremic...	OMIM:619644
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Impaired lymphocyte transformation with phytohemagglutinin, Minimal change glomerulonephritis, Po...	OMIM:617006
Nephrotic Syndrome, Type 23	Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Podocyte foot process effa...	OMIM:619201
Kerion Celsi	Recurrent cutaneous abscess formation, Recurrent skin infections, Inflammatory abnormality of the...	ORPHA:499
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Gastritis, Hypospadias, Glandular hypospadias, Diarrhea, Megaloblastic anemia, Folate-unresponsiv...	ORPHA:2575
Autoinflammatory-Pancytopenia Syndrome	Cholestatic liver disease, Intestinal inflammation, Hemophagocytosis, Pancytopenia, Chronic diarr...	OMIM:619858
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Plasmacytosis, Lymphopenia, Pneumonia, Glomerulonephritis	OMIM:247800
Immunodeficiency, Common Variable, 6	Enlarged kidney, Hepatomegaly, Recurrent respiratory infections, Nephrotic range proteinuria, Abn...	OMIM:613496
Inflammatory Bowel Disease (Crohn Disease) 30	Protein-losing enteropathy, Gastritis, Pancolitis, Chronic diarrhea, Abnormal intestine morpholog...	OMIM:619079
Nephrotic Syndrome, Type 10	Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Nephrotic syndrome, Podo...	OMIM:615861
Kimura Disease	Follicular hyperplasia, Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy	ORPHA:482
Nephrotic Syndrome, Type 7	Acute kidney injury, Hemolytic-uremic syndrome, Podocyte foot process effacement, Nephrotic syndr...	OMIM:615008
Diffuse Gastric And Lobular Breast Cancer Syndrome	Cleft upper lip, Cleft palate, Atrophic gastritis, Stomach cancer	OMIM:137215
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis	ORPHA:69063
Zygomycosis	Hematemesis, Gastrointestinal hemorrhage, Acute infectious pneumonia, Sinusitis, Pericarditis, Pu...	ORPHA:73263
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Villous atrophy, Neutropenia, Lymphadenopathy, Ileus, Anemia, Arthritis, Chronic diarrhea, Decrea...	OMIM:304790
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Atopic dermatitis, Nephrotic syndrome, Hypothyroidism, Eosinophi...	OMIM:618999
Autoimmune Polyendocrinopathy Type 4	Aplasia/Hypoplasia of the spleen, Abnormal pulmonary interstitial morphology, Keratoconjunctiviti...	ORPHA:227990
Autoimmune Polyendocrinopathy Type 3	Macrocytic anemia, Biliary cirrhosis, Leukopenia, Aplasia/Hypoplasia of the spleen, Non-caseating...	ORPHA:227982
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Bronchitis, Skin rash, Psoriasiform dermatitis, Cholecystitis, Allergic rhinitis, Cholangitis, Re...	ORPHA:183675
Focal Segmental Glomerulosclerosis 10	Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chron...	OMIM:256020
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Neoplasm of the tongue, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly...	ORPHA:3261
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Abnormal pulmonary interstitial morphology, Arthritis, Crescentic glomerulonephritis, Hemosiderin...	OMIM:616414
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Infertility, Abnormal lymph node morphology	OMIM:136580
Cach Syndrome	Gonadal dysgenesis, Premature ovarian insufficiency, Pancreatitis, Secondary amenorrhea, Optic ne...	ORPHA:135
Legionnaires Disease	Myocarditis, Jaundice, Pancreatitis, Hematuria, Recurrent pharyngitis, Lymphadenopathy, Diarrhea,...	ORPHA:549
Primary Membranoproliferative Glomerulonephritis	Acute kidney injury, Glomerular subendothelial electron-dense deposits, Nephrotic syndrome, Micro...	ORPHA:54370
Igg4-Related Kidney Disease	Enlarged kidney, Sclerosing cholangitis, Pericarditis, Cholecystitis, Urinary bladder inflammatio...	ORPHA:449395
Congenital Pancreatic Cyst	Vomiting, Jaundice, Pancreatitis	ORPHA:313906
Lipodystrophy, Partial, Acquired, Susceptibility To	Hematuria, Nephrotic syndrome, Proteinuria, Membranoproliferative glomerulonephritis, Polycystic ...	OMIM:608709
Drug Reaction With Eosinophilia And Systemic Symptoms	Myocarditis, Lymphadenopathy, Renal insufficiency, Lymphocytosis, Thyroiditis, Skin rash, Nephrot...	ORPHA:139402
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Thyroiditis, Chronic diarrhea, Abnormal lymphocyte morphol...	ORPHA:39041
Nephrotic Syndrome, Type 16	Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria	OMIM:617783
Immunodeficiency 82 With Systemic Inflammation	Duodenal ulcer, Crohn's disease, Skin rash, Bronchitis, T lymphocytopenia, Splenomegaly, Reduced ...	OMIM:619381
Chylous Ascites	Abnormal intestine morphology, Pancreatitis, Ascites	ORPHA:1160
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Abnormality of the kidney, Abnormal salivary gland morphology, Prostati...	ORPHA:449432
Systemic Lupus Erythematosus	Pleuritis, Malar rash, Arthritis, Pericarditis, Nephritis, Thrombocytopenia, Leukopenia, Hemolyti...	OMIM:152700
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Chronic oral candidiasis, Lymphadenopathy, Recurrent respiratory inf...	OMIM:606367
Familial Mediterranean Fever	Intestinal obstruction, Skin rash, Ascites, Pericarditis, Nephrocalcinosis, Splenomegaly, Pancrea...	ORPHA:342
Familial Partial Lipodystrophy, Köbberling Type	Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Pancreatitis	ORPHA:79084
Ménétrier Disease	Gastrointestinal hemorrhage, Hypochromic microcytic anemia, Gastroesophageal reflux, Stomach canc...	ORPHA:2494
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Pancreatitis, Anemia, Thrombocytopenia, Splenomegaly, Renal insufficiency, Neutropenia	ORPHA:79312
Sézary Syndrome	Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Abnormal pleura morp...	ORPHA:3162
Familial Partial Lipodystrophy, Dunnigan Type	Advanced eruption of teeth, Hepatomegaly, Pancreatitis, Glomerulopathy, Secondary amenorrhea, Dys...	ORPHA:2348
Rat-Bite Fever	Morbilliform rash, Myocarditis, Abdominal aseptic abscess, Pancreatitis, Anemia, Diarrhea, Arthri...	ORPHA:31205
Nephrotic Syndrome, Type 15	Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney d...	OMIM:617609
Familial Reactive Perforating Collagenosis	Perifolliculitis, Abnormal oral mucosa morphology, Inflammatory abnormality of the skin, Pruritus...	ORPHA:79147
Glycoprotein Storage Disease	Splenomegaly, Gout	OMIM:232900
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Glomerulonephritis, High palate, Chronic kidney disease	ORPHA:2172
Microsporidiosis	Intermittent diarrhea, Bronchitis, Chronic diarrhea, Sinusitis, Biliary tract abnormality, Myocar...	ORPHA:2552
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Diarrhea, Decreased proportion of CD3-positive T cells, Erythroderma, R...	ORPHA:169160
Lymphatic Filariasis	Abnormality of the kidney, Lymphangiectasis, Hematuria, Lymphadenopathy, Urethral obstruction, Kn...	ORPHA:2035
Variant Abeta2M Amyloidosis	Gastrointestinal infarctions, Abnormal salivary gland morphology, Intestinal perforation, Renal a...	ORPHA:314652
Genetic Steroid-Resistant Nephrotic Syndrome	Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Respiratory tract infectio...	ORPHA:656
Galloway-Mowat Syndrome 7	Minimal change glomerulonephritis, High palate, Focal segmental glomerulosclerosis, Eczematoid de...	OMIM:618348
C1Q Deficiency 1	Membranoproliferative glomerulonephritis	OMIM:613652
Pparg-Related Familial Partial Lipodystrophy	Cirrhosis, Hepatomegaly, Pancreatitis, Secondary amenorrhea, Oligomenorrhea, Dysmenorrhea, Spleno...	ORPHA:79083
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Reticular pattern on pulmonary HRCT, Cardiomegaly, Iron deficiency anemia, Hepatosp...	ORPHA:99931
Al Amyloidosis	Abnormality of the kidney, Abnormal pulmonary interstitial morphology, Abnormal salivary gland mo...	ORPHA:85443
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Recurrent lower respiratory tract infections, Lymph...	ORPHA:169154
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Duodenal ulcer, Skin rash, Dysphagia, Recurrent cutaneous abscess formation, Gastric ulcer, Eosin...	OMIM:147060
Nephrotic Syndrome, Type 11	Minimal change glomerulonephritis, High palate, Focal segmental glomerulosclerosis, IgA depositio...	OMIM:616730
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Recurrent otitis media, Lymphadenopathy, Respiratory tract infection...	ORPHA:444463
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Folliculitis, Inflammation of the ...	OMIM:300635
Systemic Lupus Erythematosus 16	Lupus nephritis	OMIM:614420
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Diarrhea, Pancreatitis, Vomiting, Recurrent upper respiratory tract infections	OMIM:620137
Galloway-Mowat Syndrome 2, X-Linked	Minimal change glomerulonephritis, High palate, Focal segmental glomerulosclerosis, Nephrotic syn...	OMIM:301006
Combined Oxidative Phosphorylation Deficiency 52	Pancreatitis, Adrenal insufficiency, Hepatic steatosis, Renal insufficiency, Aminoaciduria, Lacti...	OMIM:619386
Cystic Echinococcosis	Cholestatic liver disease, Jaundice, Hepatomegaly, Abnormal peritoneum morphology, Splenic cyst, ...	ORPHA:400
Autoimmune Hepatitis	Cirrhosis, Jaundice, Gastrointestinal hemorrhage, Sclerosing cholangitis, Acute hepatitis, Thyroi...	ORPHA:2137
Benign Cephalic Histiocytosis	Histiocytosis, Skin rash, Inflammatory abnormality of the skin	ORPHA:157997
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Perianal abscess, Anoperineal fistula, Thrombocytosis, Iron deficiency anemia, Diarrhea, Chronic ...	OMIM:301074
Aicardi-Goutieres Syndrome 7	Hematemesis, Skin rash, Chilblains, Hematochezia, Splenomegaly, Hepatic steatosis, Pancytopenia, ...	OMIM:615846
Benign Recurrent Intrahepatic Cholestasis	Cholestatic liver disease, Cirrhosis, Jaundice, Pancreatitis, Cholelithiasis, Chronic diarrhea, H...	ORPHA:65682
Hyperparathyroidism 2 With Jaw Tumors	Parathyroid carcinoma, Renal cortical adenoma, Polycystic kidney dysplasia, Recurrent pancreatiti...	OMIM:145001
Cystic Fibrosis	Male infertility, Cirrhosis, Pancreatitis, Hepatomegaly, Steatorrhea, Rectal prolapse, Hypercalci...	OMIM:219700
Proteasome-Associated Autoinflammatory Syndrome 5	Skin rash, Hepatomegaly, Splenomegaly	OMIM:619175
Idiopathic Steroid-Resistant Nephrotic Syndrome	Acute kidney injury, Minimal change glomerulonephritis, Abnormal glomerular visceral epithelial c...	ORPHA:567548
Pauci-Immune Glomerulonephritis	Acute kidney injury, Abnormality of the pulmonary vasculature, Abnormality of the gastrointestina...	ORPHA:93126
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Pulmonary pneumatocele, Hepatomegaly, Minimal change glomerulonephri...	OMIM:620565
Cap Polyposis	Colorectal polyposis, Diarrhea, Constipation, Hematochezia, Atrophic gastritis	ORPHA:160148
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Pancreatitis, Anemia, Renal tubular dysfunction, Thrombocytopenia, Renal insufficie...	ORPHA:289916
Mitochondrial Complex I Deficiency, Nuclear Type 8	Pancreatitis, Dysphagia	OMIM:618230
Lipase Deficiency, Combined	Pancreatitis	OMIM:246650
Immunodeficiency 85 And Autoimmunity	Villous atrophy, Chronic diarrhea, Lymphopenia, Eczematoid dermatitis, Vomiting, T lymphocytopeni...	OMIM:619510
Immunodeficiency 75 With Lymphoproliferation	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Bronc...	OMIM:619126
Brucellosis	Bronchitis, Pericarditis, Intrarenal abscess, Hyperhidrosis, Leukopenia, Splenomegaly, Anterior u...	ORPHA:1304
Pityriasis Rubra Pilaris	Abnormal oral cavity morphology, Eczematoid dermatitis, Pustule, Erythroderma, Pruritus	ORPHA:2897
Sarcoidosis, Susceptibility To, 1	Enlarged lacrimal glands, Abnormal pulmonary interstitial morphology, Abnormal salivary gland mor...	OMIM:181000
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Diarrhea, B lymphocytopenia, Erythroderma, Hypoplasia of t...	OMIM:603554
C3 Glomerulopathy	Acute kidney injury, Hematuria, Nephrotic syndrome, Proteinuria, Mesangial hypercellularity, Chro...	ORPHA:329918
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Jaundice, Hepatomegaly, Lymphadenopathy, Neutropenia, Hemophagocytosis...	ORPHA:540
Syndromic Diarrhea	Cirrhosis, Hepatomegaly, Gastritis, Intractable diarrhea, Villous atrophy, Polycystic kidney dysp...	ORPHA:84064
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Hepatomegaly, Lymphadenopathy, Diarrhea, Lymphocytosis, Erythroderma...	ORPHA:79456
Immunodeficiency 76	Lymphadenopathy, Chronic diarrhea, B lymphocytopenia, T lymphocytopenia, Recurrent pneumonia, Spl...	OMIM:619164
Systemic Capillary Leak Syndrome	Myocarditis, Pulmonary edema, Abnormal renal tubule morphology, Pancreatitis, Diarrhea, Pleural e...	ORPHA:188
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Hypospadias, Glomerular sclerosis, Gingival overgrowth, Nephrotic syndrome, Proteinuria, Chronic ...	OMIM:619428
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Pancreatitis, Intrahepatic cholestasis with episodic jaundice, Intermittent jaundic...	OMIM:243300
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Nephrotic syndrome, Hematuria, Proteinuria, Membranoproliferative glomerulonephritis	OMIM:613913
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia, Hematuria, Glomerulonephritis	OMIM:314000
Congenital Syphilis	Myocarditis, Pancreatitis, Lymphadenopathy, Anemia, Diarrhea, High palate, Notched primary centra...	ORPHA:499009
Nephrotic Syndrome, Type 6	Tubulointerstitial fibrosis, Minimal change glomerulonephritis, Focal segmental glomerulosclerosi...	OMIM:614196
Microscopic Polyangiitis	Gastrointestinal infarctions, Gastrointestinal hemorrhage, Glomerulopathy, Hematuria, Pancreatiti...	ORPHA:727
Coccidioidomycosis	Skin rash, Pericarditis, Erythema nodosum, Morbilliform rash, Abnormality of the female genitalia...	ORPHA:228123
Complement Factor I Deficiency	Recurrent otitis media, Recurrent urinary tract infections, Recurrent streptococcus pneumoniae in...	OMIM:610984
Mccune-Albright Syndrome	Hepatocellular adenoma, Cholestasis, Bone marrow hypocellularity, Ovarian cyst, Increased circula...	ORPHA:562
Mantle Cell Lymphoma	Lymphadenopathy, Abnormality of the gastrointestinal tract, Splenomegaly	ORPHA:52416
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Pancreatitis, Oligomenorrhea, Polycystic ovaries, Hepatic steatosis	ORPHA:435651
Pgm3-Cdg	Chronic otitis media, Decreased proportion of CD3-positive T cells, T lymphocytopenia, Bone marro...	ORPHA:443811
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Chronic tubulointerstitial nephritis, Hepatomegaly, Renal hypoplasia, Proteinuria, Stage 5 chroni...	OMIM:614376
Glycogen Storage Disease Ib	Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Oral ulcer, He...	OMIM:232220
Hemochromatosis, Type 2A	Cirrhosis, Hepatomegaly, Azoospermia, Arthritis, Infertility, Splenomegaly, Amenorrhea, Hypogonad...	OMIM:602390
Alopecia-Intellectual Disability Syndrome 4	Erythroderma, Micropenis, Hypospadias, Bilateral cryptorchidism	OMIM:618840
Systemic Sclerosis	Gastroparesis, Bowel incontinence, Pericarditis, Dysphagia, Intestinal bleeding, Abnormal small i...	ORPHA:90291
Bacterial Toxic-Shock Syndrome	Skin rash, Sinusitis, Myocarditis, Increased circulating myelocyte count, Nausea, Septic arthriti...	ORPHA:36234
Complement Component 4A Deficiency	Glomerulonephritis	OMIM:614380
Actinic Prurigo	Cheilitis, Pyoderma, Glomerulonephritis	OMIM:174770
Schimke Immuno-Osseous Dysplasia	Abnormality of thyroid physiology, Pancreatitis, Anemia, Abnormal proportion of naive CD4 T cells...	ORPHA:1830
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Pancreatitis, Anemia, Macrocytic anemia, Leukopenia, Thrombocytopenia, Renal insuff...	ORPHA:27
Behçet Disease	Gastrointestinal hemorrhage, Optic neuritis, Pericarditis, Splenomegaly, Recurrent aphthous stoma...	ORPHA:117
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Pancreatitis, Chronic diarrhea, Hepatic steatosis, Microcytic anemia	OMIM:618805
Cheilitis Glandularis	Abnormal salivary gland morphology, Thick lower lip vermilion	ORPHA:1221
Immunodeficiency 58	Chronic otitis media, Recurrent aphthous stomatitis, Seborrheic dermatitis, Chronic mucocutaneous...	OMIM:618131
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Anemia, Lymphadenopathy, Chronic diarrhea, Vesicoureteral reflux, Cholestasis, Lymp...	OMIM:615895
Chronic Actinic Dermatitis	Late onset atopic dermatitis, Allergic rhinitis, Eczematoid dermatitis, Erythroderma, Pruritus	ORPHA:330064
Immunodeficiency 48	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Chronic diarrhea, Eczem...	OMIM:269840
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Pancreatitis, Infertility, Delayed menarche, Hypothyroidism, Oligomenorrhea, Dysphagia, Hypogonad...	ORPHA:412057
Igg4-Related Retroperitoneal Fibrosis	Renal tubular epithelial necrosis, Deep dermal perivascular inflammatory infiltrate, Impotence, P...	ORPHA:49041
Pfapa Syndrome	Hepatomegaly, Recurrent pharyngitis, Lymphadenopathy, Abnormal oral cavity morphology, Arthritis,...	ORPHA:42642
Propionic Acidemia	Hepatomegaly, Pancreatitis, Increased level of hippuric acid in urine, Anemia, Pancytopenia, Hype...	OMIM:606054
Igg4-Related Ophthalmic Disease	Enlarged lacrimal glands, Abnormality of the kidney, Prostatitis, Pancreatitis, Cholangitis, Lymp...	ORPHA:449563
Intellectual Developmental Disorder, Fra12A Type	Erythroderma, Recurrent lower respiratory tract infections	OMIM:136630
Alpha-1-Antitrypsin Deficiency	Gastric varix, Cirrhosis, Panacinar emphysema, Hepatocellular carcinoma, Splenomegaly, Bronchiect...	OMIM:613490
Gastritis, Familial Giant Hypertrophic	Giant hypertrophic gastritis	OMIM:137280
Netherton Syndrome	Intestinal atresia, Hypereosinophilia, Chronic rhinitis, Eczematoid dermatitis, Recurrent infecti...	OMIM:256500
Activated Pi3K-Delta Syndrome	Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Recurrent tonsillitis, Arthritis, B lympho...	ORPHA:397596
Amyloidosis, Familial Visceral	Hepatomegaly, Hematuria, Skin rash, Cholestasis, Nephrotic syndrome, Splenomegaly, Proteinuria, R...	OMIM:105200
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
Immunodeficiency 42	Chronic oral candidiasis, Hepatomegaly, Recurrent aphthous stomatitis, Hypoplasia of the thymus, ...	OMIM:616622
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Recurrent otitis media, Mediastinal lymphadenopathy, Lymphadenopathy, Recurrent bronchitis, Autoi...	OMIM:300853
Lamellar Ichthyosis	Chronic otitis media, Everted lower lip vermilion, Abnormality of the dentition, Erythroderma, Re...	ORPHA:313
Mahvash Disease	Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis	OMIM:619290
Trimethylaminuria	Trimethylaminuria, Anemia, Recurrent pneumonia, Splenomegaly, Neutropenia	OMIM:602079
Igg4-Related Thyroid Disease	Euthyroid goiter, Sclerosing cholangitis, Sialadenitis, Thyroiditis, Abnormal pituitary gland mor...	ORPHA:64744
Aicardi-Goutieres Syndrome 9	Chilblains, Ascites, Pericarditis, Left ventricular hypertrophy, Stage 5 chronic kidney disease, ...	OMIM:619487
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Abnormal pulmonary interstitial morphology, Anemia, Lymphadenopathy, Hemophagocytosis, Recurrent ...	OMIM:613101
Membranoproliferative Glomerulonephritis, X-Linked	Membranoproliferative glomerulonephritis	OMIM:305800
Familial Cold Autoinflammatory Syndrome 2	Recurrent aphthous stomatitis, Lymphadenopathy, Arthritis, Skin rash, Leukocytosis, Splenomegaly,...	OMIM:611762
Neutropenia, Severe Congenital, 9, Autosomal Dominant	3-Methylglutaconic aciduria, Splenomegaly	OMIM:619813
Salivary Gland Adenoma, Pleomorphic	Salivary gland neoplasm	OMIM:181030
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatocellular adenoma, Enlarged kidney, Tubulointerstitial fibrosis, Chronic neutropenia, Nephro...	ORPHA:79259
Blau Syndrome	Abnormal salivary gland morphology, Anemia, Lymphadenopathy, Erythema nodosum, Skin rash, Xerosto...	ORPHA:90340
Granulomatosis With Polyangiitis	Chronic otitis media, Intestinal obstruction, Gastrointestinal hemorrhage, Inflammatory abnormali...	ORPHA:900
Peripheral Primitive Neuroectodermal Tumor	Pelvic mass, Neoplasm of the pancreas, Ovarian neoplasm, Jaundice, Pancreatitis, Anemia, Ascites,...	ORPHA:370348
Primary Sjögren Syndrome	Normochromic anemia, Optic neuritis, Bronchitis, Biliary cirrhosis, Leukopenia, Lymphopenia, Eryt...	ORPHA:289390
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Pancreatitis, Anemia, Diarrhea, Dysuria, Dyspareunia, Esophageal str...	ORPHA:36426
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Recurrent otitis media, Lymphadenopathy, R...	OMIM:619220
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Abnormal salivary gland morphology	ORPHA:3225
Hemophagocytic Lymphohistiocytosis, Familial, 4	Jaundice, Hepatomegaly, Lymphadenopathy, Hemophagocytosis, Anemia, Skin rash, Thrombocytopenia, S...	OMIM:603552
Inflammatory Skin And Bowel Disease, Neonatal, 1	Bloody diarrhea, Duodenitis, Blepharitis, Pustule, Erythroderma, Villous atrophy	OMIM:614328
Thymoma	Aplastic anemia, Prostate neoplasm, Myositis, Neoplasm of the lung, Rheumatoid arthritis, Pure re...	ORPHA:99867
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Long penis, Oligozoospermia, Precocious puberty, Acne, Macroorchidism	ORPHA:3000
Sarcoidosis, Susceptibility To, 2	Pneumothorax, Abnormal pulmonary interstitial morphology, Hepatomegaly, Emphysema, Mediastinal ly...	OMIM:612387
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Hepatomegaly, Pancreatitis, Diarrhea, Vomiting, Leukopenia, Thrombocytopenia, Stage 5 chronic kid...	OMIM:251000
Idiopathic Hypereosinophilic Syndrome	Portal fibrosis, Chronic diarrhea, Splenomegaly, Dysphagia, Cholangitis, Neutrophilia, Hepatosple...	ORPHA:3260
Immunodeficiency 87 And Autoimmunity	Autoimmune hemolytic anemia, Jaundice, Hepatomegaly, Decreased CD4:CD8 ratio, Decreased proportio...	OMIM:619573
Immunodeficiency 23	Chronic mucocutaneous candidiasis, High palate, Molluscum contagiosum, Bronchiectasis, Eczematoid...	OMIM:615816
Netherton Syndrome	Emphysema, Ectopic kidney, Skin rash, Eczematoid dermatitis, Hydronephrosis, Erythroderma, Recurr...	ORPHA:634
Immunodeficiency 27A	Anemia, Lymphadenopathy, Thrombocytosis, Diarrhea, Salmonella osteomyelitis, Leukocytosis, Histio...	OMIM:209950
Caspase 8 Deficiency	Lymphadenopathy, Chronic diarrhea, Eczematoid dermatitis, Recurrent sinopulmonary infections, Spl...	OMIM:607271
Gallbladder Disease 1	Jaundice, Pancreatitis, Cholangitis, Cholelithiasis, Portal inflammation, Cholestasis, Bile duct ...	OMIM:600803
Cyclic Neutropenia	Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Periodontitis, Atrophy of alveolar ridg...	ORPHA:2686
Bullous Impetigo	Glomerulopathy, Abnormality of the lymphatic system, Recurrent bacterial skin infections, Pustule...	ORPHA:36237
Igg4-Related Pachymeningitis	Pancreatitis, Parotitis, Lymphadenitis, Sinusitis, Abnormal lung morphology, Nephritis, Dysphagia...	ORPHA:449427
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Abnormal salivary gland morphology, Keratoconjunctivitis sicca, Lymphad...	ORPHA:79078
Bullous Diffuse Cutaneous Mastocytosis	Erythroderma, Cutaneous mastocytosis, Pruritus	ORPHA:280785
Citrullinemia, Type Ii, Adult-Onset	Pancreatitis, Argininosuccinic aciduria, Portal inflammation, Hepatocellular carcinoma, Hepatic f...	OMIM:603471
Brooke-Spiegler Syndrome	Abnormality of the submandibular glands, Abnormality of the sublingual glands, Salivary gland neo...	ORPHA:79493
Caroli Syndrome	Hematemesis, Leukopenia, Abnormal intrahepatic bile duct morphology, Abnormality of the kidney, I...	ORPHA:480520
Immunodeficiency, Common Variable, 1	Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Decreased proportion of class-switched mem...	OMIM:607594
Hereditary Amyloidosis With Primary Renal Involvement	Intestinal obstruction, Gastrointestinal hemorrhage, Decreased glomerular filtration rate, Tubulo...	ORPHA:85450
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphocytosis, Chronic diarrhea, Skin rash, Recurrent bacterial skin infections, Chronic oral can...	ORPHA:911
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Recurrent aphthous stomatitis, Lymphadenopathy, Diarrhea, B lymphocytop...	OMIM:150550
Immunodeficiency, Common Variable, 2	Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Diarrhea, Recurrent bronchitis, Abnormal T...	OMIM:240500
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Recurrent otitis media, Diarrhea, B lymphocytopenia, Lymphopenia, T lymphocytopenia, Sinusitis, R...	ORPHA:277
Ethylene Glycol Poisoning	Pulmonary edema, Renal tubular epithelial necrosis, Hematuria, Gastritis, Decreased urine output,...	ORPHA:31826
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Thin vermilion border, Renal hypoplasia/aplasia, Anemia, Hypospadias, Hypoplasia of penis, Narrow...	ORPHA:1046
Lipodystrophy, Familial Partial, Type 1	Hepatomegaly, Acute pancreatitis	OMIM:608600
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Abnormal renal glomerulus morphology, Thick vermilion border, Pulmonary lymphangiectasia, Chronic...	OMIM:137940
Indolent Systemic Mastocytosis	Hepatomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Skin rash, Mastocytosis,...	ORPHA:98848
Tularemia	Pneumonia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Inflam...	ORPHA:3392
Immunodeficiency 84	Perianal abscess, B lymphocytopenia, Splenomegaly	OMIM:619437
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Diarrhea, Rec...	OMIM:618495
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Organic aciduria, Pancreatitis, Aspiration pneumonia, Renal tubular acidosis	ORPHA:431361
Primary Sclerosing Cholangitis	Adenocarcinoma of the large intestine, Cholestasis, Ascites, Splenomegaly, Jaundice, Thyroiditis,...	ORPHA:171
Pancreatitis, Hereditary	Pancreatic pseudocyst, Steatorrhea, Pancreatitis, Pleural effusion, Exocrine pancreatic insuffici...	OMIM:167800
Visceral Myopathy 1	Thinning of outer muscular layer of small bowel, Aganglionic megacolon, Pancreatitis, Gastropares...	OMIM:155310
Hyperlipoproteinemia, Type Id	Hepatomegaly, Pancreatitis, Splenomegaly, Recurrent pancreatitis, Colitis	OMIM:615947
Coproporphyria, Hereditary	Elevated urinary delta-aminolevulinic acid, Jaundice, Hepatomegaly, Increased urinary porphobilin...	OMIM:121300
Classic Mycosis Fungoides	Hepatomegaly, Lymphadenopathy, Skin rash, Abnormal lymphocyte morphology, Eczematoid dermatitis, ...	ORPHA:2584
Kikuchi-Fujimoto Disease	Lymphocytosis, Skin rash, Pustule, Leukopenia, Splenomegaly, Neutropenia, Myocarditis, Generalize...	ORPHA:50918
Immunodeficiency 109 With Lymphoproliferation	Recurrent lower respiratory tract infections, Pancytopenia, Recurrent sinusitis, Splenomegaly, Br...	OMIM:620282
Immunodeficiency 69	Anemia, Hemophagocytosis, Pancytopenia, Diarrhea, Skin rash, Leukocytosis, Hepatosplenomegaly, Sp...	OMIM:618963
Van Der Woude Syndrome	Abnormal salivary gland morphology, Cleft upper lip, Cleft palate, Hypodontia, Lower lip pit, Lip...	ORPHA:888
Immunodeficiency 52	Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Recurrent pneumonia, Sple...	OMIM:617514
Schnitzler Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Arthritis, Skin rash, Leukocytosis, Splenomegaly, Pruritus	ORPHA:37748
Hypocalciuric Hypercalcemia, Familial, Type Ii	Peptic ulcer, Pancreatitis, Hypocalciuria, Parathormone-independent increased renal tubular calci...	OMIM:145981
Leukocyte Adhesion Deficiency	Perianal abscess, Severe periodontitis, Sinusitis, Bone marrow hypocellularity, Impaired neutroph...	ORPHA:2968
Spondylometaphyseal Dysplasia, Axial	Recurrent pneumonia, Reduced sperm motility, Splenomegaly	OMIM:602271
Liver Disease, Severe Congenital	Lymphocytosis, Ascites, Biliary hyperplasia, Leukopenia, Splenomegaly, Cardiomegaly, Hepatic stea...	OMIM:619991
Immunodeficiency 97 With Autoinflammation	Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer cell count, Hepatosplenomegaly, ...	OMIM:619802
Insulin-Resistance Syndrome Type B	Abnormal salivary gland morphology, Skin rash, Biliary cirrhosis, Enlarged polycystic ovaries, Gl...	ORPHA:2298
Adult Acute Respiratory Distress Syndrome	Pneumonia, Pulmonary edema, Pancreatitis	ORPHA:70578
Citrullinemia Type Ii	Hepatomegaly, Pancreatitis, Diarrhea, Hepatocellular carcinoma, Delayed menarche, Enuresis, Vomit...	ORPHA:247585
Pachydermoperiostosis	Peptic ulcer, Gastrointestinal hemorrhage, Hepatomegaly, Anemia, Seborrheic dermatitis, Arthritis...	ORPHA:2796
Lysinuric Protein Intolerance	Steatorrhea, Argininuria, Decreased glomerular filtration rate, Renal fibrosis, Leukopenia, Decre...	ORPHA:470
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Minimal change glomerulonephritis, Pleural effusion, Ascites, Focal segmental glomerulosclerosis,...	ORPHA:567546
Biotinidase Deficiency	Hepatomegaly, Diarrhea, Seborrheic dermatitis, Skin rash, Organic aciduria, Vomiting, Splenomegal...	OMIM:253260
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Lymphadenopathy, Arthritis, Skin rash, Pleural effusion, Pericarditis, Splenomegaly...	ORPHA:85414
Maple Syrup Urine Disease, Type Ia	Vomiting, Positive 2,4-dinitrophenylhydrazine urine test, Pancreatitis, Increased level of hippur...	OMIM:248600
Hypocomplementemic Urticarial Vasculitis	Glomerulopathy, Hepatomegaly, Hematuria, Emphysema, Lymphadenopathy, Inflammatory abnormality of ...	ORPHA:36412
Immunodeficiency 7	Autoimmune hemolytic anemia, Chronic oral candidiasis, Hepatomegaly, Recurrent otitis media, Lymp...	OMIM:615387
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Lymphadenopathy, Hyperhidrosis, Splenomegaly, Pruritus	ORPHA:86893
Lysinuric Protein Intolerance	Hepatomegaly, Pancreatitis, Oroticaciduria, Hemophagocytosis, Anemia, Diarrhea, Intraalveolar pho...	OMIM:222700
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Neutropenia in presenc...	OMIM:615952
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Pancreatitis, Homocystinuria, Dental crowding, High palate, Methioninuria, Hepatic steatosis	OMIM:236200
Lymphoproliferative Syndrome 2	Aplastic anemia, EBV encephalitis, Hepatomegaly, Lymphadenopathy, Hemophagocytosis, Pancytopenia,...	OMIM:615122
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Pancreatitis, Neutropenia, Anemia, Abnormal vagina morphology, Dysur...	ORPHA:537
Acute Lung Injury	Pneumonia, Diffuse alveolar hemorrhage, Abnormal pulmonary interstitial morphology, Acute pancrea...	ORPHA:178320
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Recurrent urinary tract infections, Cleft palate, Leukopenia, Splenomegaly, Lymphop...	OMIM:620210
Erythroderma, Lethal Congenital	Congenital exfoliative erythroderma	OMIM:227090
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Advanced eruption of teeth, Hepatomegaly, Pancreatitis, Secondary amenorrhea, Dysmenorrhea, Splen...	ORPHA:280365
Malakoplakia	Prostate neoplasm, Hematuria, Neoplasm of the rectum, Diarrhea, Skin rash, Dysuria, Urinary hesit...	ORPHA:556
Hypocalciuric Hypercalcemia, Familial, Type I	Pancreatitis, Hypocalciuria, Hypercalciuria, Nephrolithiasis, Parathyroid adenoma, Hyperparathyro...	OMIM:145980
Generalized Pustular Psoriasis	Cheilitis, Arthritis, Leukocytosis, Palmoplantar pustulosis, Pustule, Geographic tongue, Lymphope...	ORPHA:247353
Infection-Related Hemolytic Uremic Syndrome	Oliguria, Intussusception, Myocarditis, Acute kidney injury, Pleural empyema, Nausea, Pneumonia, ...	ORPHA:544482
Congenital Ichthyosiform Erythroderma	Erythroderma, Keratitis, Pruritus, Hypohidrosis	ORPHA:79394
Alport Syndrome 3A, Autosomal Dominant	Hematuria, Nephrotic syndrome, Microscopic hematuria, Thickened glomerular basement membrane, Nep...	OMIM:104200
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Steatorrhea, Jaundice, Hepatomegaly, Skin rash, Anemia of inadequate production, Carious teeth, E...	OMIM:612714
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Acute kidney injury, Rectal prolapse, Pancreatitis, Acute colitis, Diarrhea, Anuria, Intestinal p...	ORPHA:90038
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Melena, Diarrhea, Acute pancreatitis, Vomiting, Nausea, Leukopenia, ...	ORPHA:319218
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Pancreatitis, Cholangitis, Sclerosing cholangitis, Cholelithiasis, Live...	ORPHA:69663
Cortisone Reductase Deficiency 1	Precocious puberty, Oligomenorrhea, Infertility, Acne	OMIM:604931
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Abnormal palate morphology, Hepatomegaly, Anemia, Lymphadenopathy, N...	ORPHA:100026
Letterer-Siwe Disease	Jaundice, Anemia, Stomatitis, Seborrheic dermatitis, Hepatosplenomegaly, Thrombocytopenia, Neutro...	OMIM:246400
Immunodeficiency 25	Autoimmune hemolytic anemia, T lymphocytopenia, Recurrent pneumonia, Erythroderma, Eosinophilia, ...	OMIM:610163
Simple Cryoglobulinemia	Abnormality of the kidney, Gastrointestinal hemorrhage, Abnormality of the gastrointestinal tract...	ORPHA:91139
Pemphigus Foliaceus	Oral ulcer, Pustule, Abnormal oral mucosa morphology, Erythroderma, Psoriasiform dermatitis, Crus...	ORPHA:79481
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Felty Syndrome	Chronic otitis media, Sinusitis, Pericarditis, Bone marrow hypocellularity, Splenomegaly, Neutrop...	ORPHA:47612
Harlequin Ichthyosis	Erythroderma, Eclabion, Recurrent respiratory infections	ORPHA:457
Chronic Granulomatous Disease	Hepatomegaly, Liver abscess, Mediastinal lymphadenopathy, Inflammatory abnormality of the eye, Gi...	ORPHA:379
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly, Abnormality of the menstrual cycle	ORPHA:721
Peeling Skin Syndrome 1	Erythroderma, Eosinophilia, Palmoplantar hyperhidrosis, Pruritus	OMIM:270300
Transketolase Deficiency	Hepatomegaly, Increased level of ribose in urine, Secondary amenorrhea, Seborrheic dermatitis, Re...	ORPHA:488618
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Recurrent lower respiratory tract infec...	OMIM:618534
Glycogen Storage Disease Ia	Intermittent diarrhea, Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtrati...	OMIM:232200
Systemic Lupus Erythematosus	Cheilitis, Hematuria, Lymphadenopathy, Pyuria, Malar rash, Arthritis, Discoid lupus rash, Oral ul...	ORPHA:536
Aicardi-Goutieres Syndrome 6	Hepatomegaly, Chilblains, Thrombocytopenia, Splenomegaly, Hemolytic anemia	OMIM:615010
Periodic Fever, Familial, Autosomal Dominant	Gastrointestinal hemorrhage, Hepatomegaly, Pleuritis, Myositis, Chronic diarrhea, Skin rash, Vomi...	OMIM:142680
Immunodeficiency 114, Folate-Responsive	Hepatomegaly, Recurrent lower respiratory tract infections, Chronic diarrhea, Megaloblastic anemi...	OMIM:620603
Ichthyosis, Congenital, Autosomal Recessive 7	Erythroderma	OMIM:615022
Ichthyosis With Confetti	Erythroderma, Hypoplastic nipples, Pruritus	OMIM:609165
Hypocalciuric Hypercalcemia, Familial, Type Iii	Peptic ulcer, Pancreatitis, Hypocalciuria, Parathormone-independent increased renal tubular calci...	OMIM:600740
Postinfectious Vasculitis	Gastrointestinal inflammation, Pneumonia, Hematuria, Bacterial endocarditis, Arthritis, Viral hep...	ORPHA:48435
Ichthyosis Prematurity Syndrome	Erythroderma, Pruritus, Allergic rhinitis	OMIM:608649
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Genital ulcers, Hepatomegaly, Chronic diarrhea, Oral ulcer, Abnormally low T cell receptor excisi...	OMIM:602450
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Arthritis, Sterile arthritis, Cystic acne, Hepatosplenomegaly, Acne, Thrombocytosis...	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	Jaundice, Hepatomegaly, Galactosuria, Vomiting, Splenomegaly, Aminoaciduria	OMIM:230350
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Hepatomegaly, Cholestasis, Proteinuria, Splenomegaly, Pruritus	OMIM:620010
Nephronophthisis-Like Nephropathy 1	Nephronophthisis, Chronic pancreatitis, Tubular basement membrane disintegration, Renal tubular a...	OMIM:613159
Burkitt Lymphoma	Neoplasm of the oral cavity, Intestinal obstruction, Gastrointestinal hemorrhage, Abnormal lymph ...	ORPHA:543
Classic Hodgkin Lymphoma	Hepatomegaly, Lymphadenopathy, Skin rash, Bone marrow hypocellularity, Hyperhidrosis, Splenomegal...	ORPHA:391
Trichohepatoneurodevelopmental Syndrome	Steatorrhea, Hepatomegaly, Recurrent otitis media, Widely spaced teeth, Cholelithiasis, Gastroeso...	OMIM:618268
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Oral ulcer, Splenomegaly, Microcytic anemia	OMIM:618852
Sarcoidosis	Increased T cell count, Nephrocalcinosis, Leukopenia, Erythema nodosum, Abnormal reproductive sys...	ORPHA:797
Hemochromatosis, Type 2B	Cirrhosis, Hepatomegaly, Anemia, Secondary amenorrhea, Splenomegaly, Hypogonadism, Hepatic fibrosis	OMIM:613313
Erythrokeratodermia Variabilis Et Progressiva 1	Erythroderma	OMIM:133200
Papa Syndrome	Lymphadenopathy, Myositis, Arthritis, Crohn's disease, Pustule, Proteinuria, Acne, Increased infl...	ORPHA:69126
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Microdontia, Ureterocele, Transverse vaginal septum, Decreased response to growth hormone stimula...	OMIM:129900
Hyperparathyroidism-Jaw Tumor Syndrome	Peptic ulcer, Pancreatitis, Testicular neoplasm, Hypercalciuria, Renal hamartoma, Nephrolithiasis...	ORPHA:99880
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Microdontia, Ureterocele, Urethral stenosis, Transverse vaginal septum, Decreased response to gro...	OMIM:604292
Crimean-Congo Hemorrhagic Fever	Hematemesis, Ascites, Hyperhidrosis, Leukopenia, Splenomegaly, Erythema nodosum, Diffuse alveolar...	ORPHA:99827
Familial Mediterranean Fever	Hepatomegaly, Pleuritis, Diarrhea, Crohn's disease, Arthritis, Pleural effusion, Leukocytosis, Ne...	OMIM:249100
Familial Adenomatous Polyposis	Eruption failure, Odontoma, Pituitary adenoma, Neoplasm of the gastrointestinal tract, Desmoid tu...	ORPHA:733
Pigmented Nodular Adrenocortical Disease, Primary, 2	Pancreatitis, Ovarian cyst, Primary hypercortisolism, Increased circulating cortisol level	OMIM:610475
Epidermolytic Hyperkeratosis 1	Erythroderma	OMIM:113800
Alpha-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly, Abnormal small intestine morphology	ORPHA:100025
Parathyroid Carcinoma	Peptic ulcer, Parathyroid carcinoma, Pancreatitis, Testicular neoplasm, Hypercalciuria, Renal ham...	ORPHA:143
Autoinflammation With Infantile Enterocolitis	Anemia, Episodic vomiting, Pancytopenia, Skin rash, Enterocolitis, Secretory diarrhea, Splenomega...	OMIM:616050
Roifman Syndrome	Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Eczematoid dermatitis, Downturned corners ...	OMIM:616651
Mu-Heavy Chain Disease	Hepatomegaly, Bence Jones Proteinuria, Lymphadenopathy, Anemia, Splenomegaly, Abnormal B cell cou...	ORPHA:100024
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Chronic oral candidiasis, Recurrent otitis media, Chronic mucocutaneous candidiasis, High palate,...	OMIM:618282
Ichthyosis, Congenital, Autosomal Recessive 10	Erythroderma	OMIM:615024
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Erysipelas, Neonatal cholestatic liver disease, Splenomegaly	OMIM:214900
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant	Erythroderma	OMIM:620150
Congenital Lethal Erythroderma	Congenital exfoliative erythroderma	ORPHA:1954
Muckle-Wells Syndrome	Abnormal palate morphology, Hepatomegaly, Anemia, Recurrent aphthous stomatitis, Arthritis, Skin ...	ORPHA:575
Congenital Disorder Of Glycosylation, Type If	Renal cortical cysts, Thin vermilion border, Erythroderma	OMIM:609180
Candidiasis, Familial, 8	Chronic oral candidiasis, Cheilitis, Seborrheic dermatitis, Blepharitis, Macroglossia	OMIM:615527
Immunodeficiency 60 And Autoimmunity	Decreased basophil count, Pancytopenia, Crohn's disease, Chronic diarrhea, Splenomegaly, Recurren...	OMIM:618394
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Gastrointestinal hemorrhage, Hepatomegaly, Lymphadenopathy, Iron def...	OMIM:603909
T-Cell Immunodeficiency With Thymic Aplasia	Pyoderma, Emphysema, Chronic diarrhea, Abnormally low T cell receptor excision circle level, Lymp...	OMIM:242700
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomeg...	OMIM:612840
Bardet-Biedl Syndrome 20	Pancreatitis, Bilateral cryptorchidism, Proteinuria, Male hypogonadism, Micropenis	OMIM:619471
Hemochromatosis, Type 1	Cirrhosis, Hepatomegaly, Azoospermia, Hepatocellular carcinoma, Pleural effusion, Impotence, Asci...	OMIM:235200
Bathing Suit Ichthyosis	Erythroderma, Eclabion, Hypohidrosis	ORPHA:100976
Hemorrhagic Fever-Renal Syndrome	Hematemesis, Decreased glomerular filtration rate, Decreased urine output, Hyperhidrosis, Oliguri...	ORPHA:340
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Biliary tract abnormality, Spleno...	ORPHA:79301
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Chronic diarrhea, Thrombocytopenia, Splenomegaly, Leukopen...	OMIM:615285
Ichthyosis, Congenital, Autosomal Recessive 1	Erythroderma, Everted lower lip vermilion	OMIM:242300
Niemann-Pick Disease, Type B	Abnormal pulmonary interstitial morphology, Hepatomegaly, Sea-blue histiocytosis, Anemia, Bone-ma...	OMIM:607616
Monosomy 22	Thin vermilion border, Hypochromic microcytic anemia, Seborrheic dermatitis, High palate, Hyperhi...	ORPHA:96123
Immunodeficiency 115 With Autoinflammation	Intermittent diarrhea, Intestinal lymphangiectasia, Anemia, Superficial dermal perivascular infla...	OMIM:620632
Alpha-Mannosidosis	Chronic otitis media, Narrow palate, Hepatomegaly, Widely spaced teeth, Dental malocclusion, Arth...	ORPHA:61
Autosomal Dominant Epidermolytic Ichthyosis	Erythroderma	ORPHA:312
Yao Syndrome	Pleuritis, Diarrhea, Arthritis, Skin rash, Xerostomia, Oral ulcer, Nephrolithiasis, Pericarditis,...	OMIM:617321
Oxoglutaric Aciduria	Abnormal salivary gland morphology, Abnormal urine alpha-ketoglutarate concentration	ORPHA:31
Ichthyosis, Congenital, Autosomal Recessive 9	Erythroderma, Eclabion, Hypohidrosis	OMIM:615023
Ichthyosis, Hystrix-Like, With Deafness	Erythroderma, Punctate keratitis	OMIM:602540
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Hepatocellular carcinoma, Generalized aminoaciduria	ORPHA:882
Hyperlipoproteinemia, Type I	Jaundice, Acute pancreatitis, Vomiting, Nausea, Hepatosplenomegaly, Splenomegaly	OMIM:238600
Lipodystrophy, Congenital Generalized, Type 2	Clitoral hypertrophy, Cirrhosis, Hepatomegaly, Decreased fertility in females, Acute pancreatitis...	OMIM:269700
Follicular Lymphoma	Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology, Pleural effusion, S...	ORPHA:545
Marburg Hemorrhagic Fever	Skin rash, Reticulocytosis, Pericarditis, Leukopenia, Lymphopenia, Jaundice, Abnormal lymphocyte ...	ORPHA:99826
Majeed Syndrome	Glomerulopathy, Hepatomegaly, Acne, Hypochromic microcytic anemia, Leukocytosis, Synovitis, Micro...	ORPHA:77297
Mycosis Fungoides	Psoriasiform dermatitis, Lymphadenopathy, Pruritus, Eczematoid dermatitis	OMIM:254400
Lipodystrophy, Congenital Generalized, Type 1	Clitoral hypertrophy, Cirrhosis, Hepatomegaly, Acute pancreatitis, Nephrolithiasis, Splenomegaly,...	OMIM:608594
Inflammatory Bowel Disease 28, Autosomal Recessive	Perianal abscess, Pyoderma, Crohn's disease, Oral ulcer, Folliculitis, Enterocolitis, Hematochezi...	OMIM:613148
Tropical Pancreatitis	Jaundice, Abnormal pancreatic duct morphology, Vomiting, Nausea, Pancreatic calcification, Pancre...	ORPHA:103918
Majeed Syndrome	Skin rash, Anemia of inadequate production, Inflammatory abnormality of the skin, Hepatosplenomeg...	OMIM:609628
Paternal Uniparental Disomy Of Chromosome 1	Enlarged kidney, Abnormal dental enamel morphology, Episodic hemolytic anemia, Anhidrosis, Macros...	ORPHA:251004
Typhoid	Abnormal pulmonary interstitial morphology, Hepatomegaly, Gastrointestinal hemorrhage, Diarrhea, ...	ORPHA:99745
Familial Chylomicronemia Syndrome	Perianal abscess, Jaundice, Acute pancreatitis, Hepatosplenomegaly, Recurrent pancreatitis, Hepat...	ORPHA:444490
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Hepatomegaly, Polycystic kidney dysplasia, Acute pancreatitis, Hepatic peripor...	ORPHA:26791
Graft Versus Host Disease	Gastrointestinal inflammation, Jaundice, Lymphadenopathy, Hemophagocytosis, Inflammatory abnormal...	ORPHA:39812
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Anal fissure, IgA deposition in the glomerulus, Dysphagia, Carious teeth, Renal amyloidosis, Uret...	ORPHA:79408
X-Linked Dominant Chondrodysplasia Punctata	Erythroderma, Abnormal lung morphology, Hydronephrosis, High palate	ORPHA:35173
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Intestinal obstruction, Recurrent pharyngitis, Lymphadenopathy, Pleuritis, Myositis, Arthritis, S...	ORPHA:32960
Mirizzi Syndrome	Jaundice, Pancreatitis, Cholelithiasis, Vomiting, Nausea, Cholesterol gallstones, Dark urine, Gal...	ORPHA:521219
Leishmaniasis	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal oral cavity morphology, Pancytopenia, Abnormal ma...	ORPHA:507
Hyper-Igd Syndrome	Chronic oral candidiasis, Lymphadenopathy, Diarrhea, Arthritis, Skin rash, Chronic diarrhea, Oral...	OMIM:260920
Beta-Thalassemia	Hepatomegaly, Anemia, Cholelithiasis, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Microc...	ORPHA:848
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Renal cortical adenoma, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy, Pa...	ORPHA:97290
Glycogen Storage Disease Ic	Hepatomegaly, Chronic pancreatitis, Decreased glomerular filtration rate, Hematuria, Stomatitis, ...	OMIM:232240
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Recurrent respiratory infections, Eosinophilic infiltration of the esophagus, Erythroderma, Recur...	OMIM:615508
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Recurrent respiratory ...	OMIM:614470
Trichothiodystrophy 1, Photosensitive	Intestinal obstruction, Triangular mouth, Chronic diarrhea, Hypogonadism, Erythroderma, Keratocon...	OMIM:601675
Pediatric Systemic Lupus Erythematosus	Skin rash, Discoid lupus rash, Ascites, Leukopenia, Dark urine, Lymphopenia, Nephritis, Oral ulce...	ORPHA:93552
Adult-Onset Still Disease	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Pleuritis, Arthritis, Skin rash, Leukocytosis...	ORPHA:829
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Myeloproliferative disorder, Splenomegaly, Eosinophilia, Pruritus	OMIM:607685
Cholesteryl Ester Storage Disease	Cirrhosis, Jaundice, Hepatomegaly, Diarrhea, Esophageal varix, Splenomegaly, Pruritus	ORPHA:75234
Cryoglobulinemic Vasculitis	Gastrointestinal infarctions, Gastrointestinal hemorrhage, Hepatomegaly, Hematuria, Mediastinal l...	ORPHA:91138
Ichthyosis With Erythrokeratoderma	Erythroderma, Pruritus	OMIM:620507
Scrub Typhus	Myocarditis, Lymphadenopathy, Skin rash, Hyperhidrosis, Splenomegaly, Anterior uveitis, Renal ins...	ORPHA:83317
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abnormality of the kidney, Liver abscess, Abnormal lymph node morphology, Anemia, Diarrhea, Abnor...	ORPHA:54251
Cocaine Intoxication	Pneumothorax, Acute kidney injury, Pulmonary edema, Gastrointestinal infarctions, Hematuria, Coli...	ORPHA:90068
Fowler Urethral Sphincter Dysfunction Syndrome	Urinary incontinence, Dysuria, Abnormality of the ovary, Oligomenorrhea, Menorrhagia, Acne, Ameno...	ORPHA:2795
Chilblain Lupus	Malar rash, Skin rash, Discoid lupus rash, Inflammatory abnormality of the skin, Chronic myelomon...	ORPHA:90280
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Narrow palate, Pancreatitis, Atelectasis, Splenic cyst, Pulmonary artery atresia, High palate, Ev...	OMIM:620371
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatomegaly, Widely spaced teeth, Delayed eruption of teeth, Seborrheic dermatitis, Gingival ove...	OMIM:301072
Immunodeficiency 31C	Autoimmune hemolytic anemia, Chronic oral candidiasis, Hepatomegaly, Protein-losing enteropathy, ...	OMIM:614162
Melas	Hypoparathyroidism, Anemia, Intestinal pseudo-obstruction, Diarrhea, Proximal tubulopathy, Focal ...	ORPHA:550
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Pancreatitis, Vacuolated lymphocytes, Renal artery atherosclerosis, Inflammatory ab...	ORPHA:565612
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Vomiting, Splenomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Gastric varix, Increased mean corpuscular volume, Esophageal varix, Portal hypertension, Usual in...	OMIM:620367
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hepatomegaly, Recurrent pharyngitis, Lymphadenopathy, Pancytopenia, Lymphocytosi...	OMIM:308240
Agammaglobulinemia 9, Autosomal Recessive	Seborrheic dermatitis, Thrombocytopenia, Absent circulating B cells, Eczematoid dermatitis	OMIM:619693
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Lymphadenopathy, Rectal abscess, Discoid lupus rash, Granulomatosis,...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Lymphadenopathy, Rectal abscess, Discoid lupus rash, Granulomatosis,...	OMIM:233710
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia	OMIM:183350
American Trypanosomiasis	Myocarditis, Hepatomegaly, Aganglionic megacolon, Lymphadenopathy, Diarrhea, Skin rash, Splenomeg...	ORPHA:3386
Hereditary Chronic Pancreatitis	Jaundice, Leukocytosis, Pancreatic calcification, Recurrent pancreatitis	ORPHA:676
Lacrimoauriculodentodigital Syndrome	Orofacial cleft, Lacrimal gland aplasia, Abnormal salivary gland morphology, Arthritis, Xerostomi...	ORPHA:2363
22Q11.2 Deletion Syndrome	Chronic otitis media, Gastrointestinal hemorrhage, Anorectal anomaly, Seborrheic dermatitis, Bowe...	ORPHA:567
Epidermodysplasia Verruciformis	Seborrheic dermatitis, Pustule, Recurrent skin infections	ORPHA:302
Prolidase Deficiency	Hepatomegaly, Anemia, High palate, Eczematoid dermatitis, Hyperimidodipeptiduria, Prolonged neona...	OMIM:170100
Nephronophthisis 19	Hepatomegaly, Nephronophthisis, Cholestasis, Bile duct proliferation, Hyperechogenic kidneys, Spl...	OMIM:616217
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Erythroderma, Cirrhosis, Conjunctivitis	OMIM:242150
Wilson Disease	Cirrhosis, Jaundice, Hepatomegaly, Anemia, Acute hepatitis, Arthritis, Hepatitis, Thrombocytopeni...	ORPHA:905
Benign Schwannoma	Abnormality of the liver, Abnormal parotid gland morphology, Intestinal polyposis, Abnormal esoph...	ORPHA:252164
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hematemesis, Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Pol...	OMIM:263200
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Lymphadenopathy, Rectal abscess, Discoid lupus rash, Granulomatosis,...	OMIM:233690
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Primary amenorrhea, Hepatic steatosis	OMIM:612526
Agammaglobulinemia 8B, Autosomal Recessive	Everted upper lip vermilion, Anemia, Short philtrum, Pancytopenia, Chronic diarrhea, B lymphocyto...	OMIM:619824
Immunodeficiency 32B	Hepatomegaly, Anemia, Bronchiectasis, Sinusitis, Eosinophilia, Neutrophilia, Thrombocytopenia, Sp...	OMIM:226990
Whipple Disease	Myocarditis, Gastrointestinal hemorrhage, Hepatomegaly, Erectile dysfunction, Mediastinal lymphad...	ORPHA:3452
Digeorge Syndrome	Seborrheic dermatitis, Recurrent sinusitis, Ovarian cyst, Splenomegaly, Bifid uvula, Abnormal thy...	OMIM:188400
Acquired Generalized Lipodystrophy	Cirrhosis, Hepatomegaly, Panniculitis, Acute pancreatitis, Proteinuria, Polycystic ovaries, Hepat...	ORPHA:79086
Deafness-Lymphedema-Leukemia Syndrome	Chronic otitis media, Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, M...	ORPHA:3226
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Portal fibrosis, Hepatomegaly, Splenomegaly, Acholic stools, Pruritus	OMIM:619868
Spinocerebellar Ataxia 34	Erythroderma	OMIM:133190
Chronic Mucocutaneous Candidiasis	Cheilitis, Hematuria, Abnormal vagina morphology, Abnormal dental enamel morphology, Skin rash, R...	ORPHA:1334
Immunodeficiency With Hyper-Igm, Type 1	Chronic oral candidiasis, Cirrhosis, Hepatomegaly, Recurrent lower respiratory tract infections, ...	OMIM:308230
Erythroderma Desquamativum	Diarrhea, Seborrheic dermatitis	ORPHA:314
Viss Syndrome	Pulmonary artery aneurysm, Chronic diarrhea, Intestinal malrotation, Malposition of the stomach, ...	OMIM:619472
Trichorhinophalangeal Syndrome, Type Ii	Hydrometrocolpos, Recurrent otitis media, Partial anomalous pulmonary venous return, Gastroesopha...	OMIM:150230
Phoar2-Enteropathy Syndrome	Seborrheic dermatitis, Hyperhidrosis, Secretory diarrhea, Acne	OMIM:614441
Reynolds Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Gastroesophageal reflux, Arthritis, Skin rash, Xerostomia, Asc...	ORPHA:779
Immunodeficiency 10	Amelogenesis imperfecta, Autoimmune hemolytic anemia, Hepatomegaly, Recurrent otitis media, Lymph...	OMIM:612783
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Hemophagocytosis, Pancytopeni...	OMIM:613011
Hemihyperplasia-Multiple Lipomatosis Syndrome	Enlarged kidney, Seborrheic dermatitis, Abnormality of the lymphatic system, Nephroblastoma, Ovar...	ORPHA:276280
Renal-Hepatic-Pancreatic Dysplasia 1	Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Intestinal malrotation,...	OMIM:208540
Complement Component 5 Deficiency	Generalized seborrheic dermatitis, Intractable diarrhea	OMIM:609536
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Hepatocellular carcinoma, Neoplas...	ORPHA:158057
Nail-Patella Syndrome	Hematuria, Nephrotic syndrome, Cleft upper lip, Cleft palate, Proteinuria, Renal insufficiency, G...	OMIM:161200
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Chronic oral candidiasis, Hepatomegaly, Recurrent otitis media, Recu...	OMIM:301078
Kaposiform Lymphangiomatosis	Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Pleural...	ORPHA:464329
Melkersson-Rosenthal Syndrome	Cheilitis, Lymphadenopathy, Furrowed tongue, Inflammatory abnormality of the skin, Oligosaccharid...	ORPHA:2483
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Chronic oral candidiasis, Jaundice, Hepatomegaly, Diarrhea, Decreased proportion of CD3-positive ...	ORPHA:276
Common Variable Immunodeficiency	Chronic otitis media, Pneumonia, Emphysema, Lymphadenopathy, Recurrent bronchitis, Gastrointestin...	ORPHA:1572
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Anal atresia, Eosinophilia, Lymphopenia, Erythroderma, Hepatic cysts	OMIM:617425
Ichthyosis, Congenital, Autosomal Recessive 5	Erythroderma, Acanthocytosis	OMIM:604777
Immunodeficiency 54	Hepatomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Splenomegaly, Recurrent respir...	OMIM:609981
Familial Tumoral Calcinosis	Abnormal palate morphology, Hepatomegaly, Skin rash, Gingivitis, Abnormality of the dentition, Hy...	ORPHA:53715
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Atelectasis, Lymphadenopathy, Rectal abscess, Discoid lupus rash, Gr...	OMIM:306400
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Cholelithiasis, Seborrheic dermatitis, B lymphocytopenia, Pancreatic hypoplasia, Su...	ORPHA:83617
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Gastrointestinal hemorrhage, Jaundice, Gastric varix, Anemi...	ORPHA:64743
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Azoospermia, Hypochromia, Poikilocytosis, Elevated hepatic iron concentrati...	OMIM:615234
Inflammatory Bowel Disease 25, Autosomal Recessive	Perianal abscess, Rectovaginal fistula, Pancolitis, Recurrent bronchitis, Folliculitis, Enterocol...	OMIM:612567
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly	ORPHA:66661
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Pruritus	OMIM:619658
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Pulmonary pneumatocele, Recurrent otitis media, Sclerosing cholangitis, Atopic dermatitis, Eczema...	OMIM:243700
Congenital Rubella Syndrome	Jaundice, Hepatomegaly, Anemia, Skin rash, Thrombocytopenia, Splenomegaly, Abnormality of the pul...	ORPHA:290
Hurler-Scheie Syndrome	Abnormality of the tonsils, Rhinitis, Hepatomegaly, Splenomegaly	ORPHA:93476
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	Seborrheic dermatitis, Hyperhidrosis, Secretory diarrhea, Acne, Elevated urinary prostaglandin E2...	OMIM:167100
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Vesic...	OMIM:617394
Congenital Disorder Of Glycosylation, Type Iiw	Supernumerary tooth, Hepatomegaly, Recurrent otitis media, Anemia, Gastroesophageal reflux, Ankyl...	OMIM:619525
3-Hydroxy-3-Methylglutaric Aciduria	Jaundice, Hepatomegaly, Anemia, Episodic vomiting, Diarrhea, Acute pancreatitis, Leukocytosis, 3-...	ORPHA:20
Harderoporphyria	Increased fecal harderoporphyrin, Hepatomegaly, Increased urine harderoporphyrin level, Increased...	OMIM:618892
B4Galt1-Cdg	Hepatomegaly, Diarrhea, Hypothyroidism, Inflammatory abnormality of the skin, Splenomegaly, Long ...	ORPHA:79332
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Abnormality of the lymphatic syst...	ORPHA:1414
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas...	OMIM:133180
Combined Immunodeficiency Due To Crac Channel Dysfunction	Chronic otitis media, Amelogenesis imperfecta, Hepatomegaly, Lymphadenopathy, Anhidrosis, Thrombo...	ORPHA:169090
Portal Hypertension, Noncirrhotic, 1	Esophageal varix, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:617068
Copper Deficiency, Familial Benign	Seborrheic dermatitis, Anemia	OMIM:121270
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid...	OMIM:237800
Beta-Thalassemia Intermedia	Proximal tubulopathy, Anemia of inadequate production, Splenomegaly, Hypogonadism, Decreased mean...	ORPHA:231222
Griscelli Syndrome	Jaundice, Hepatomegaly, Lymphadenopathy, Ascites, Pyloric stenosis, Bone marrow hypocellularity, ...	ORPHA:381
Lymphoid Interstitial Pneumonia	Enlarged kidney, Hepatomegaly, Mediastinal lymphadenopathy, Skin rash, Multiple pulmonary cysts, ...	ORPHA:79128
Sea-Blue Histiocytosis	Hepatomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Blepharitis, Thrombocytopenia,...	ORPHA:158029
Budd-Chiari Syndrome	Intestinal obstruction, Cirrhosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Gastroint...	ORPHA:131
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Hepatomegaly, Reduced red cell adenosine deaminase level, Diarrhea, ...	OMIM:102700
Familial Hypocalciuric Hypercalcemia	Peptic ulcer, Pancreatitis, Hypomagnesiuria, Hypocalciuria, Reduced ratio of renal calcium cleara...	ORPHA:405
Ichthyosis, Congenital, Autosomal Recessive 6	Erythroderma, Hypohidrosis	OMIM:612281
Dysbetalipoproteinemia	Renal steatosis, Hepatomegaly, Acute pancreatitis, Hypothyroidism, Gout, Hepatic steatosis	ORPHA:412
Tropical Calcific Pancreatitis	Neoplasm of the pancreas, Chronic pancreatitis, Pancreatic calcification	OMIM:608189
Ornithine Transcarbamylase Deficiency	Pyloric stenosis, Aminoaciduria, Splenomegaly	ORPHA:664
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Symptomatic Form Of Hfe-Related Hemochromatosis	Cirrhosis, Hepatomegaly, Erectile dysfunction, Arthritis, Infertility, Decreased libido, Testicul...	ORPHA:465508
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Diarrhea, Fibro-obliterative bile-duct lesion, ...	OMIM:619849
Cholestasis, Progressive Familial Intrahepatic, 2	Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Diarrhea, Hepatocellular carcinoma, Intermitte...	OMIM:601847
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Seborrheic dermatitis, Arthritis, High palate, Eczematoid dermatitis, Hyperhidrosis	OMIM:259100
Good Syndrome	Mediastinal lymphadenopathy, Anemia, Diarrhea, Abnormal leukocyte morphology, Recurrent urinary t...	ORPHA:169105
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Diarrhea, Portal in...	OMIM:602347
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Protein-losing enteropathy, Abnormal fallopian tube morphology, Abnormal renal morp...	ORPHA:1655
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	High, narrow palate, Thick lower lip vermilion, Delayed eruption of teeth, Seborrheic dermatitis,...	ORPHA:369950
Cold Agglutinin Disease	Hepatomegaly, Lymphadenopathy, Diarrhea, Splenomegaly, Abnormal urinary color, Hemolytic anemia	ORPHA:56425
Alström Syndrome	Urinary incontinence, Precocious puberty in females, Primary hypothyroidism, Recurrent cystitis, ...	ORPHA:64
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Anemia, Splenomegaly, Recurrent upper respiratory tract infections, Interstitial pn...	OMIM:620296
Q Fever	Myocarditis, Pneumonia, Hepatomegaly, Hematuria, Abnormal pulmonary interstitial morphology, Lymp...	ORPHA:781
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Cirrhosis, Hepatomegaly, Widely spaced teeth, Bilateral fetal pyelectasis, Triangular mouth, Dupl...	OMIM:300868
Sickle Cell Disease	Jaundice, Hepatomegaly, Hematuria, Cholelithiasis, Splenic infarction, Leukocytosis, Priapism, Sp...	OMIM:603903
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Stomatitis, Skin rash, Pustule, Neutrophilia, Splenomegaly, Pulmonary fibrosis, Ost...	OMIM:612852
Acute Generalized Exanthematous Pustulosis	Cheilitis, Lymphadenopathy, Cholestasis, Leukocytosis, Predominantly dermal neutrophilic infiltra...	ORPHA:293173
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Hepatomegaly, Anemia, Renal tubular acidosis,...	ORPHA:264580
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Panniculitis, Lymphadenopathy, Anemia, Myositis, Arthritis, Skin rash, Lymphopenia,...	OMIM:617591
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Elevated urinary inosi...	OMIM:613179
Seborrhea-Like Dermatitis With Psoriasiform Elements	Seborrheic dermatitis	OMIM:610227
Whim Syndrome	Severe periodontitis, Atelectasis, Neutropenia, Parotitis, Lymphopenia, Lymphadenitis, Abnormal n...	ORPHA:51636
Scheie Syndrome	Hepatomegaly, Everted lower lip vermilion, Mucopolysacchariduria, Rhinitis, Wide mouth, Splenomeg...	ORPHA:93474
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Protein-losing enteropathy, Pancreatic lymphangiectasis, High palate, Ascites, Alve...	OMIM:235255
Neonatal Lupus Erythematosus	Aplastic anemia, Hepatomegaly, Anemia, Pancytopenia, Malar rash, Skin rash, Thrombocytopenia, Spl...	ORPHA:398124
Neurofibroma	Abnormal biliary tract morphology, Recurrent otitis media, Neoplasm of the trachea, Multiple inte...	ORPHA:252183
Immunodeficiency 36 With Lymphoproliferation	Recurrent lower respiratory tract infections, Chronic lymphatic leukemia, Chronic diarrhea, B lym...	OMIM:616005
Mucopolysaccharidosis-Plus Syndrome	Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Anemia, Focal segmental glomerul...	OMIM:617303
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Hepatomegaly, Panniculitis, Lymphadenopathy, Myositis, Splenomegaly	OMIM:619183
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Skin rash, Bone marrow hypocellularity, Aphthous ulcer, Recurrent sinusitis, Leukopenia, Splenome...	OMIM:615688
Seckel Syndrome 10	Acute pancreatitis, Glycosuria, Elevated circulating follicle stimulating hormone level, Elevated...	OMIM:617253
Trichothiodystrophy	Gonadal dysgenesis, High, narrow palate, Anemia, Increased mean corpuscular hemoglobin concentrat...	ORPHA:33364
T-Cell Immunodeficiency With Thymic Aplasia	Chronic otitis media, Chronic oral candidiasis, Lymphadenopathy, Diarrhea, Thyroiditis, Recurrent...	ORPHA:83471
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Thrombocytopenia-Absent Radius Syndrome	Renal malrotation, Ureteral duplication, Anemia, Meckel diverticulum, Seborrheic dermatitis, Vesi...	OMIM:274000
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Perianal abscess, Leukopenia, Splenomegaly, Lymphopenia, Neutropenia, Cleft palate, Hepatosplenom...	OMIM:612541
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Diarrhea, Intrahepatic cholestasis with episod...	OMIM:211600
Bile Acid Synthesis Defect, Congenital, 1	Cirrhosis, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Steatorrhea, D...	OMIM:607765
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Anemia, Premature loss of teeth, Gingivitis, Splenomegaly, Hyperparathyroidism	OMIM:618107
Goodpasture Syndrome	Reticular pattern on pulmonary HRCT, Anemia, Glomerular crescent formation, Renal insufficiency, ...	OMIM:233450
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Jaundice, Hepatomegaly, Abnormal dental enamel morphology, Oligodontia, Cholestasis, Portal hyper...	ORPHA:59303
Caroli Disease	Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a...	ORPHA:53035
Neutral Lipid Storage Disease With Myopathy	Chronic pancreatitis, Hepatomegaly, Hepatic steatosis, Splenomegaly	OMIM:610717
Scorpion Envenomation	Myocarditis, Acute kidney injury, Pulmonary edema, Diarrhea, Acute pancreatitis, Vomiting, Glycos...	ORPHA:466677
Hennekam Syndrome	Supernumerary tooth, Ectopic kidney, Lymphadenopathy, Short philtrum, Chylothorax, Delayed erupti...	ORPHA:2136
Gaucher Disease Type 1	Cirrhosis, Hepatomegaly, Hematuria, Abnormal pulmonary interstitial morphology, Cholelithiasis, P...	ORPHA:77259
Autosomal Recessive Polycystic Kidney Disease	Enlarged kidney, Gastrointestinal hemorrhage, Cholestasis, Ascites, Biliary hyperplasia, Splenome...	ORPHA:731
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Cholelithiasis, Normochromic anemia, Nonspherocytic hemolytic anemia...	OMIM:235700
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Primary hypothyroidism, Abnormal intestine morphology, Lymphopenia, Thyroiditis, Renal artery ste...	ORPHA:391487
Cholesteryl Ester Storage Disease	Cirrhosis, Hepatomegaly, Steatorrhea, Anemia, Periportal fibrosis, Diarrhea, Bone-marrow foam cel...	OMIM:278000
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis	OMIM:271500
Hardikar Syndrome	Hematemesis, Bilateral cleft palate, Intrahepatic bile duct dilatation, Cholestasis, Intestinal m...	OMIM:301068
Chondrodysplasia Punctata 2, X-Linked Dominant	Erythroderma, Hydronephrosis	OMIM:302960
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatocellular adenoma, Cirrhosis, Hepatomegaly, Anemia, Renal tubular acidosis, Diarrhea, Myoglo...	ORPHA:79240
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Hepatocellular carcinoma, Esophageal varix, Ascites, Portal hypertension, Thrombocy...	OMIM:619463
Hermansky-Pudlak Syndrome 2	Chronic oral candidiasis, Absent platelet dense granules, Hepatomegaly, Recurrent otitis media, G...	OMIM:608233
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant...	OMIM:601859
Dubin-Johnson Syndrome	Jaundice, Hepatomegaly, Abnormal gastric mucosa morphology, Biliary tract abnormality, Abnormalit...	ORPHA:234
Mucopolysaccharidosis, Type Ii	Hepatomegaly, Recurrent otitis media, Thick lower lip vermilion, Intestinal pseudo-obstruction, D...	OMIM:309900
Macrocephaly/Autism Syndrome	Hepatomegaly, Recurrent otitis media, High palate, Splenomegaly, Lymphopenia, Long philtrum, Peni...	OMIM:605309
Macrophage Activation Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Hemophagocytosis, Abnormal natural killer cell count, Incr...	ORPHA:158061
Wolman Disease	Steatorrhea, Hepatomegaly, Anemia, Bone-marrow foam cells, Esophageal varix, Ascites, Splenomegal...	ORPHA:75233
Poikiloderma With Neutropenia	Recurrent otitis media, Skin rash, Recurrent bronchopulmonary infections, Blepharitis, Carious te...	OMIM:604173
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Splenic cyst, Polycystic kidney dysplasia, Pancreatic hypoplasia, Cholestasis, Panc...	OMIM:610199
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Oligodontia, Choles...	OMIM:607626
Adams-Oliver Syndrome 6	Esophageal varix, Portal hypertension, Renal hypoplasia, Splenomegaly, Hepatic fibrosis	OMIM:616589
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Coach Syndrome 1	Cirrhosis, Hepatomegaly, Nephronophthisis, Unilateral renal agenesis, Abnormal abdomen morphology...	OMIM:216360
Poems Syndrome	Hepatomegaly, Erectile dysfunction, Lymphadenopathy, Pleural effusion, Ascites, Visceromegaly, Hy...	ORPHA:2905
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Gastroesophageal reflux, Pleural effusion, Ascites, Splenomegaly	ORPHA:2414
Refractory Celiac Disease	Normocytic anemia, Protein-losing enteropathy, Iron deficiency anemia, Jejunitis, Macrocytic anem...	ORPHA:398063
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Steatorrhea, Acholic stools, Diarrhe...	OMIM:613812
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231242
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Hepatomegaly, Lymphadenopathy, Azoospermia...	OMIM:602782
Pyruvate Kinase Deficiency Of Red Cells	Jaundice, Hepatomegaly, Chronic hemolytic anemia, Cholelithiasis, Reduced red cell pyruvate kinas...	OMIM:266200
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Hyperglycinuria, Seborrheic dermatitis, Organic aciduria, Vomiting, Ketonuria	OMIM:210210
Yellow Fever	Hematemesis, Acute kidney injury, Jaundice, Diarrhea, Anuria, Skin rash, Acute pancreatitis, Leuk...	ORPHA:99829
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy, Accessory spleen, Mi...	OMIM:619418
Wiskott-Aldrich Syndrome	Chronic otitis media, Hematemesis, Chronic diarrhea, Sinusitis, Hematochezia, Abnormal platelet m...	ORPHA:906
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Pleural effusion, Ascites, Leukocytosis, Hepatosplenomegal...	ORPHA:457077
Mucopolysaccharidosis Type 6	Chronic otitis media, Thick lower lip vermilion, Mucopolysacchariduria, Sinusitis, Splenomegaly, ...	ORPHA:583
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Felty Syndrome	Rheumatoid arthritis, Splenomegaly, Neutropenia	OMIM:134750
Lipodystrophy, Familial Partial, Type 2	Hepatomegaly, Acute pancreatitis, Labial pseudohypertrophy, Hepatic steatosis, Polycystic ovaries	OMIM:151660
Transaldolase Deficiency	Thin vermilion border, Clitoral hypertrophy, Cirrhosis, Hepatomegaly, Anemia, Short philtrum, Pan...	OMIM:606003
Glycerol Kinase Deficiency	Chronic pancreatitis, Episodic vomiting, Increased urinary glycerol, Vomiting, Nausea, Downturned...	OMIM:307030
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Chronic oral candidiasis, Acute otitis media, Impaired lymphocyte transformation with phytohemagg...	ORPHA:35078
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, A...	ORPHA:251380
Polyposis of gastric fundus without polyposis coli	Abnormal gastric mucosa morphology, Multiple gastric polyps	OMIM:175505
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr...	OMIM:194380
Lynch Syndrome	Neoplasm of the stomach, Adenoma sebaceum, Neoplasm of the pancreas, Ovarian neoplasm, Gastrointe...	ORPHA:144
Centrifugal Lipodystrophy	Inflammatory abnormality of the skin, Lymphadenitis	ORPHA:90156
Dominant Beta-Thalassemia	Splenomegaly, Decreased mean corpuscular volume, Adrenal insufficiency, Jaundice, Hepatocellular ...	ORPHA:231226
Mullerian Aplasia And Hyperandrogenism	Acne, Unilateral renal agenesis, Aplasia of the vagina, Abnormal external genitalia, Aplasia of t...	OMIM:158330
Oculoskeletodental Syndrome	Hepatomegaly, Protein-losing enteropathy, Hypercalciuria, Oligodontia, Mucopolysacchariduria, Hyp...	OMIM:618440
Immunodeficiency 17	Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Abnormal B cell mo...	OMIM:615607
Hereditary Spherocytosis	Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp...	ORPHA:822
Dyskeratosis Congenita	Neoplasm of the pancreas, Anorectal anomaly, Tracheoesophageal fistula, Bone marrow hypocellulari...	ORPHA:1775
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Hepatomegaly, Anemia, Hypochromia, Elevated hepatic iron concentration, Anis...	OMIM:616860
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphadenopathy, Lymphocytosis, Decreased mean platelet volume, Skin rash, Bloody diarrhea, Bleph...	OMIM:617718
Chops Syndrome	High, narrow palate, Gastroparesis, Gastroesophageal reflux, Vesicoureteral reflux, Aspiration pn...	OMIM:616368
Hemophagocytic Lymphohistiocytosis, Familial, 2	Jaundice, Hepatomegaly, Lymphadenopathy, Hemophagocytosis, Pancytopenia, Anemia, Skin rash, Hepat...	OMIM:603553
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Hepatomegaly, Thyroiditis, Punctate keratitis, Splenomegaly, Hypereo...	OMIM:617388
Gastrointestinal Stromal Tumor	Esophageal neoplasm, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal hemorrhage...	ORPHA:44890
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Panniculitis, Splenomegaly, Inflammatory abnormality of the eye	ORPHA:33577
Plague	Hematemesis, Carbuncle, Hepatomegaly, Inflammatory abnormality of the eye, Acute infectious pneum...	ORPHA:707
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Pleural effusion, Reticu...	ORPHA:846
Chediak-Higashi Syndrome	Jaundice, Hepatomegaly, Lymphadenopathy, Hemophagocytosis, Periodontitis, Anemia, Recurrent bacte...	OMIM:214500
Lipodystrophy, Familial Partial, Type 7	Polyuria, Diarrhea, Pleural effusion, Narrow mouth, Spontaneous pneumothorax, Vomiting, Dysphagia...	OMIM:606721
Treacher Collins Syndrome 1	Cleft soft palate, Narrow mouth, Cleft palate, Wide mouth, Abnormal parotid gland morphology, Cry...	OMIM:154500
8P11.2 Deletion Syndrome	Hypoplasia of penis, Azoospermia, Spherocytosis, High palate, Splenomegaly, Hypogonadism, Cryptor...	ORPHA:251066
Generalized Glucocorticoid Resistance Syndrome	Infertility, Oligozoospermia, Increased urinary cortisol level, Female pseudohermaphroditism, Oli...	ORPHA:786
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Anemia, Panniculitis, Hemophagocytosis, Pancytopenia, Splenomegaly	OMIM:618398
Isolated Biliary Atresia	Cirrhosis, Jaundice, Hepatomegaly, Periportal fibrosis, Acholic stools, Cholestasis, Bile duct pr...	ORPHA:30391
Fish-Eye Disease	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:79292
Systemic Mastocytosis With Associated Hematologic Neoplasm	Peptic ulcer, Normocytic anemia, Hepatomegaly, Lymphadenopathy, Normochromic anemia, Acute myeloi...	ORPHA:98849
Mucopolysaccharidosis Type 7	Ascites, Mucopolysacchariduria, Splenomegaly, Abnormal pleura morphology, Recurrent respiratory i...	ORPHA:584
Bile Acid Synthesis Defect, Congenital, 2	Steatorrhea, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Diarrhea, Splenomegaly	OMIM:235555
Lacrimoauriculodentodigital Syndrome 1	Lacrimal gland aplasia, Absence of Stensen duct, Conical incisor, Aplasia of the parotid gland, L...	OMIM:149730
Tyrosinemia, Type I	Elevated urinary delta-aminolevulinic acid, Cirrhosis, Hepatomegaly, Enlarged kidney, Gastrointes...	OMIM:276700
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Aganglionic megacolon, Unilateral renal agenesis, Hypospadias, Renal dysplasia, Eczematoid dermat...	OMIM:308205
Polycythemia Vera	Gastrointestinal hemorrhage, Increased red blood cell mass, Leukocytosis, Increased circulating h...	OMIM:263300
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Anemia, Hypospadias, Reduced hematocrit, Anemia of inadequate production, Persisten...	OMIM:613673
Autoinflammatory Disease, Systemic, With Vasculitis	Cholestasis, Increased T cell count, Splenomegaly, Cardiomegaly, Jaundice, Congenital hydrocele, ...	OMIM:620376
Beta-Thalassemia Major	Anemia of inadequate production, Splenomegaly, Decreased mean corpuscular volume, Adrenal insuffi...	ORPHA:231214
Neutral Lipid Storage Myopathy	Hepatomegaly, Chronic pancreatitis, Hepatic steatosis, Cholecystitis, Pineal cyst	ORPHA:98908
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Recurrent respiratory infections, Intraalveolar phospholipid accumulation, Leukocytosis, Splenome...	OMIM:618042
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Gingival bleeding, Increased mean platelet volume, Menorrhagia, Thrombocytopenia, Splenomegaly, S...	OMIM:153670
Interstitial Granulomatous Dermatitis With Arthritis	Rheumatoid arthritis, Inflammatory abnormality of the skin, Pruritus	ORPHA:79099
Gray Platelet Syndrome	Menorrhagia, Thrombocytopenia, Splenomegaly, Abnormal number of alpha granules	OMIM:139090
Smith-Lemli-Opitz Syndrome	Cholestatic liver disease, Broad alveolar ridges, Dental crowding, Bifid scrotum, Intestinal malr...	OMIM:270400
Darier-White Disease	Pruritus, Enlargement of parotid gland	OMIM:124200
Hereditary Orotic Aciduria	Oroticaciduria, Anemia, Abnormality of the ureter, Orotic acid crystalluria, Splenomegaly, Recurr...	ORPHA:30
Vexas Syndrome	Nasal chondritis, Arteritis, Macrocytic anemia, Arthritis, Inflammatory abnormality of the skin, ...	OMIM:301054
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Recurrent otitis media, Panniculitis, Lymphadenopathy, Thick lower lip vermilion, C...	OMIM:256040
Nk-Cell Enteropathy	Duodenal ulcer, Gastroesophageal reflux, Diarrhea, Increased T cell count, Abnormal gastric mucos...	ORPHA:263665
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Glycogen Storage Disease Xii	Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bisphosphate aldola...	OMIM:611881
Reynolds Syndrome	Gastrointestinal hemorrhage, Jaundice, Hepatomegaly, Steatorrhea, Lip telangiectasia, Cholestasis...	OMIM:613471
Primary Biliary Cholangitis	Gastrointestinal inflammation, Cirrhosis, Jaundice, Hepatomegaly, Steatorrhea, Hepatocellular car...	ORPHA:186
Hyperparathyroidism, Neonatal Severe	Polyuria, Hepatomegaly, Anemia, Hypercalciuria, Primary hyperparathyroidism, Constipation, Hyperp...	OMIM:239200
Gaucher Disease, Type Ii	Hepatomegaly, Anemia, Gastroesophageal reflux, Bronchiolitis, Recurrent aspiration pneumonia, Spl...	OMIM:230900
Pearson Syndrome	Steatorrhea, Chronic diarrhea, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Dyspha...	ORPHA:699
Cystinosis, Nephropathic	Generalized aminoaciduria, Primary hypothyroidism, Splenomegaly, Dysphagia, Stage 5 chronic kidne...	OMIM:219800
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Abnormal pulmonary interstitial morphology, Anemia, Cholelithiasis, Azoospermia, Pancytopenia, Ba...	ORPHA:2072
Ectodermal Dysplasia And Immunodeficiency 2	Hepatomegaly, Conical tooth, Chronic diarrhea, Hypohidrosis, Anhidrosis, Recurrent infection of t...	OMIM:612132
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Multiple Myeloma	Acute kidney injury, Anemia, Lymphadenopathy, Functional abnormality of the gastrointestinal trac...	ORPHA:29073
Meckel Syndrome, Type 1	Ambiguous genitalia, male, Intestinal malrotation, Wide mouth, Splenomegaly, Cystic renal dysplas...	OMIM:249000
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Recurrent lower respiratory tract infections, Gastroesophageal reflux, Renal artery stenosis, Hig...	OMIM:617913
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:182900
African Trypanosomiasis	Urinary incontinence, Optic neuritis, Impotence, Pericarditis, Splenomegaly, Myocarditis, Jaundic...	ORPHA:3385
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol...	OMIM:300908
Pancreatoblastoma	Jaundice, Abnormal lymph node morphology, Diarrhea, Vomiting, Pancreatic calcification	ORPHA:677
Uremic Pruritus	Inflammatory abnormality of the skin, Chronic kidney disease, Recurrent skin infections, Stage 5 ...	ORPHA:94059
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Aganglionic megacolon, Hepatomegaly, Microcolon, Constipation, Hypohidrosis, Splenomegaly, Hypogo...	ORPHA:163746
Hepatoerythropoietic Porphyria	Erythrodontia, Red urine, Purple urine, Red-brown urine, Keratoconjunctivitis, Recurrent bacteria...	ORPHA:95159
Oculogastrointestinal Muscular Dystrophy	Abnormality of the gastrointestinal tract, Gastroparesis, Intestinal pseudo-obstruction, Abnormal...	ORPHA:1876
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Renal tubular epithelial necrosis, Skin rash, Abnormality of the anus, Anterior uveitis, Neutrope...	ORPHA:95455
Williams Syndrome	Chronic otitis media, Hypoplasia of penis, Everted lower lip vermilion, Tracheoesophageal fistula...	ORPHA:904
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno...	ORPHA:3203
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Anemia, Lymphadenopathy, Delayed eruption of teeth, Chronic rhinitis, Pulmonary art...	ORPHA:667
Congenital Erythropoietic Porphyria	Erythrodontia, Increased urinary porphobilinogen, Increased fecal coproporphyrin 1, Purple urine,...	ORPHA:79277
Porphyria, Congenital Erythropoietic	Erythrodontia, Jaundice, Hepatomegaly, Red urine, Cholelithiasis, Increased fecal coproporphyrin ...	OMIM:263700
Beckwith-Wiedemann Syndrome	Enlarged kidney, Ureteral duplication, Large intestinal polyposis, Wide mouth, Splenomegaly, Mult...	ORPHA:116
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja...	OMIM:185000
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Portal hypertension, Biliary hyperplasia, Sple...	ORPHA:567983
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of	Enlargement of parotid gland	OMIM:600343
Aspartylglucosaminuria	Chronic otitis media, Hepatomegaly, Arthritis, Gingival overgrowth, Abnormality of the dentition,...	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

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