Gene: Il10 MGI:96537

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

interleukin 10

Synonyms:

cytokine synthesis inhibitory factor, IL-10

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.

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.

Phenotype associated images not available

Human diseases caused by Il10 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 Il10 (2 diseases)
Human diseases predicted to be associated with Il10 (1715 diseases)

The table below shows human diseases associated to Il10 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Rheumatoid Arthritis		Weight loss, Arthralgia, Fatigue, Vasculitis, Rheumatoid arthritis, Elevated circulating C-reacti...	OMIM:180300
Behçet Disease		Retrobulbar optic neuritis, Lymphadenopathy, Cerebral ischemia, Optic neuritis, Splenomegaly, Gas...	ORPHA:117

The table below shows human diseases predicted to be associated to Il10 by phenotypic similarity.

Disease	Matching phenotypes	Source
Inflammatory Bowel Disease 29	Crohn's disease, Ulcerative colitis	OMIM:618077
Inflammatory Bowel Disease 13	Inflammation of the large intestine	OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19	Inflammation of the large intestine	OMIM:612278
Inflammatory Bowel Disease 3	Ulcerative colitis	OMIM:604519
Inflammatory Bowel Disease 21	Ulcerative colitis	OMIM:612354
Immunodeficiency 72 With Autoinflammation	Increased B cell count, Herpes simplex encephalitis, Increased proportion of memory T cells, Bron...	OMIM:618982
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased...	OMIM:616452
Inflammatory Bowel Disease 11	Inflammation of the large intestine, Weight loss, Diarrhea, Abdominal pain, Hematochezia	OMIM:191390
Mannose-Binding Lectin Deficiency	Recurrent herpes, Disseminated cryptosporidium infection, Recurrent skin infections, Recurrent me...	OMIM:614372
Masp2 Deficiency	Recurrent pneumonia, Ulcerative colitis	OMIM:613791
Agammaglobulinemia 2, Autosomal Recessive	Recurrent bacterial infections, Agammaglobulinemia, Meningitis, Recurrent pneumonia, Recurrent re...	OMIM:613500
Hyperlipoproteinemia, Type Id	Failure to thrive, Colitis	OMIM:615947
Inflammatory Bowel Disease (Crohn Disease) 1	Inflammation of the large intestine, Weight loss, Intestinal obstruction, Crohn's disease, Recurr...	OMIM:266600
Diarrhea 8, Secretory Sodium, Congenital	Secretory diarrhea, Inflammation of the large intestine, Elevated fecal sodium, Abdominal distention	OMIM:616868
Visceral Myopathy 2	Dysphagia, Megaduodenum, Rectal prolapse, Intestinal pseudo-obstruction, Esophagitis, Volvulus, G...	OMIM:619350
Immunodeficiency 51	Eczema, Folliculitis, Pustule, Chronic furunculosis, Pneumonia, Recurrent bronchitis, Chronic ora...	OMIM:613953
Primary Sclerosing Cholangitis	Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatitis, Splenomegaly, Hepatosplenomegaly, Uve...	ORPHA:171
Inflammatory Bowel Disease 28, Autosomal Recessive	Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis, Hematochezia	OMIM:613148
Immunodeficiency 61	Recurrent bacterial infections, Agammaglobulinemia, Recurrent otitis media, Malabsorption, Arthri...	OMIM:300310
Enterocolitis	Abdominal distention, Ulcerative colitis, Hematochezia, Enterocolitis	OMIM:226150
Ficolin 3 Deficiency	Recurrent abscess formation, Necrotizing enterocolitis, Recurrent Staphylococcus aureus infection...	OMIM:613860
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Recurrent otitis media, Lymphopenia	OMIM:615615
Refractory Celiac Disease	Elevated alkaline phosphatase of bone origin, Hypophosphatemia, Malnutrition, Abdominal pain, Inf...	ORPHA:398063
Immunodeficiency, Common Variable, 11	Inflammation of the large intestine, Mucoid diarrhea, Growth delay, Failure to thrive, Decreased ...	OMIM:615767
Complement Component 7 Deficiency	Recurrent meningococcal disease, Recurrent Neisserial infections	OMIM:610102
Cutaneous Photosensitivity And Colitis, Lethal	Diarrhea, Colitis	OMIM:219095
Agammaglobulinemia 3, Autosomal Recessive	Recurrent bacterial infections, Agammaglobulinemia, Recurrent bronchitis, Recurrent otitis media,...	OMIM:613501
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Bloody diarrhea, Ulcerative colitis	OMIM:619398
Hirschsprung Disease, Susceptibility To, 1	Aganglionic megacolon, Vomiting, Abdominal distention, Abnormality of enteric ganglion morphology...	OMIM:142623
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Inflammation of the large intestine, Folliculitis, Colitis, Decreased circulating a...	OMIM:300635
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Decreased circulating total IgM, Splenomegaly	OMIM:606445
Inflammatory Bowel Disease (Crohn Disease) 30	Bloody diarrhea, Abnormal intestine morphology, Vomiting, Esophagitis, Duodenitis, Chronic diarrh...	OMIM:619079
Agammaglobulinemia 6, Autosomal Recessive	Recurrent bacterial infections, Agammaglobulinemia, Recurrent bronchitis, Chronic sinusitis, Recu...	OMIM:612692
Fetal Cytomegalovirus Syndrome	Hepatomegaly, Anemia, Splenomegaly	ORPHA:294
Inflammatory Bowel Disease 25, Autosomal Recessive	Folliculitis, Rectovaginal fistula, Perianal abscess, Enterocutaneous fistula, Enterocolitis	OMIM:612567
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Lymphadenopathy, Decreased circulating antibody level, Anemia, Abnormal natural killer cell physi...	OMIM:613101
Immunodeficiency, Common Variable, 5	Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in...	OMIM:613495
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Sepsis, Decreased prealbumin level, Abnormal intestine morphology, Neutropenia, Eczema, Tubuloint...	ORPHA:37042
Immunodeficiency 15A	Recurrent otitis media, Acne inversa, Chronic mucocutaneous candidiasis, Decreased proportion of ...	OMIM:618204
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections	OMIM:308220
Immunodeficiency 24	Decreased specific pneumococcal antibody level, Decreased circulating IgG level, Lymphopenia, Dec...	OMIM:615897
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections	OMIM:242870
Solitary Rectal Ulcer Syndrome	Bloody mucoid diarrhea, Bloody diarrhea, Rectal prolapse, Tenesmus, Stercoral ulcer, Intermittent...	ORPHA:209964
Immunodeficiency 34	Recurrent mycobacterial infections, Severe recurrent varicella	OMIM:300645
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Thrombocytosis, Cystic acne, Sterile arthritis, Sterile abscess, Colitis, Acne, Arthritis, Knee f...	OMIM:604416
Immunodeficiency 30	Recurrent infections, Recurrent mycobacterial infections	OMIM:614891
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive	Hepatomegaly, Eczema, Pneumonia, Lymphadenopathy, Splenomegaly, Otitis media, T lymphocytopenia	OMIM:608971
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased B cell count, Hepatomegaly, Decreased proportion of class-switched memory B cells, Medi...	OMIM:615559
Celiac Disease, Susceptibility To, 1	Eczema, Short stature, Rickets, Stomatitis, Abdominal distention, Postnatal growth retardation, S...	OMIM:212750
Agammaglobulinemia 4, Autosomal Recessive	Recurrent bacterial infections, Agammaglobulinemia, Chronic sinusitis, Recurrent otitis media, Re...	OMIM:613502
Autoinflammation With Infantile Enterocolitis	Enterocolitis, Feeding difficulties in infancy, Villous atrophy, Short stature, Failure to thrive...	OMIM:616050
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant	Eczematoid dermatitis, High palate, Recurrent sinopulmonary infections, Recurrent fungal infectio...	OMIM:147060
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Obesity, Colitis	ORPHA:88643
Progeria-Short Stature-Pigmented Nevi Syndrome	Short stature, Insulin-resistant diabetes mellitus, Premature ovarian insufficiency, Supraventric...	ORPHA:2959
Granulomatous Disease, Chronic, Autosomal Recessive, 3	Colitis, Perioral eczema, Recurrent aphthous stomatitis, Diarrhea, Recurrent sinusitis	OMIM:613960
Sickle Cell Anemia	Hypoxemia, Leukocytosis, Abnormality of the spleen, Unconjugated hyperbilirubinemia, Thrombocytos...	ORPHA:232
Immunodeficiency 14A, Autosomal Dominant	Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel...	OMIM:615513
Pgm3-Cdg	Lactose intolerance, Eczema, Sepsis, Neutropenia, Short stature, Neutropenia in presence of anti-...	ORPHA:443811
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Severe toxoplasmosis, Coccidioidomycosis, Pneumonia, BCGosis, Lymphadenitis, Salmonella osteomyel...	ORPHA:319552
5-Oxoprolinase Deficiency	Diarrhea, Abdominal pain, Vomiting, Enterocolitis	OMIM:260005
Immunodeficiency 84	B lymphocytopenia, Perianal abscess, Splenomegaly	OMIM:619437
Agammaglobulinemia 1, Autosomal Recessive	Sinusitis, Recurrent bacterial infections, Agammaglobulinemia, Pneumonia, Bronchiectasis, Recurre...	OMIM:601495
Complement Component 8 Deficiency, Type Ii	Meningitis, Recurrent Neisserial infections	OMIM:613789
Complement Factor D Deficiency	Recurrent bacterial infections	OMIM:613912
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive	Atopic dermatitis, Increased circulating interleukin 6, Decreased proportion of class-switched me...	OMIM:618944
Alg12-Cdg	Sepsis, Decreased serum insulin-like growth factor 1, Talipes equinovarus, Complete or near-compl...	ORPHA:79324
Glycoprotein Storage Disease	Gout, Splenomegaly	OMIM:232900
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu...	ORPHA:70592
Immunodeficiency 27A	Leukocytosis, Thrombocytosis, Anorexia, Enlarged mesenteric lymph node, Pneumonia, Hypoplasia of ...	OMIM:209950
Immunodeficiency 35	Recurrent fungal infections, Recurrent viral infections, Increased circulating IgE level, Recurre...	OMIM:611521
Rajab Interstitial Lung Disease With Brain Calcifications 2	Restrictive ventilatory defect, Feeding difficulties in infancy, Short stature, Elevated hepatic ...	OMIM:619013
Immunodeficiency, Common Variable, 4	Recurrent bacterial infections, Decreased circulating IgG level, Recurrent pneumonia, Decreased c...	OMIM:613494
Combined Immunodeficiency Due To Dock8 Deficiency	Atopic dermatitis, B lymphocytopenia, Pneumonia, Anal canal squamous carcinoma, Chronic otitis me...	ORPHA:217390
Diverticulosis, Small-Intestinal	Duodenal diverticula, Jejunal diverticula, Rheumatoid arthritis, Thyroiditis, Jejunoileal diverti...	OMIM:223320
Immunodeficiency, Common Variable, 8, With Autoimmunity	Sepsis, Inflammation of the large intestine, Lymphadenopathy, Recurrent infections, Splenomegaly,...	OMIM:614700
Immunodeficiency 70	Decreased circulating total IgA, Celiac disease, Decreased circulating total IgG, Verrucae, Decre...	OMIM:618969
Immunodeficiency With Hyper-Igm, Type 2	Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Decreased circ...	OMIM:605258
Dominant Beta-Thalassemia	Dilated cardiomyopathy, Adrenal insufficiency, Splenomegaly, Hepatosplenomegaly, Hypersplenism, D...	ORPHA:231226
Juvenile Polyposis Syndrome	Rectal prolapse, Neoplasm of the stomach, Hypokalemia, Failure to thrive, Multiple gastric polyps...	OMIM:174900
Squamous Cell Carcinoma Of The Anal Canal	Rectal prolapse, Neoplasm of the rectum, Anal canal squamous cell carcinoma, Neoplasm of the live...	ORPHA:424019
Familial Hemophagocytic Lymphohistiocytosis	Neutropenia, Lymphadenopathy, Decreased circulating antibody level, Splenomegaly, Increased circu...	ORPHA:540
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Sinusitis, B lymphocytopenia, Inflammatory abnormality of the skin, Pulmonary insufficiency, Abse...	ORPHA:277
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media	OMIM:616022
Combined Cellular And Humoral Immune Defects With Granulomas	B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia	OMIM:233650
Gastroesophageal Reflux	Barrett esophagus, Gastroesophageal reflux, Esophagitis, Esophageal neoplasm	OMIM:109350
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoproteinemia, Thrombocytosis, Abnormal intestine morphology, Hepatomegaly, Growth delay, Vomit...	OMIM:226300
Immunodeficiency 69	Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Increased circulating ferritin concentration,...	OMIM:618963
H Syndrome	Facial telangiectasia, Hallux valgus, Short stature, Lymphadenopathy, Pes planus, Hepatosplenomeg...	ORPHA:168569
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly	OMIM:183350
Complement Component 6 Deficiency	Recurrent meningococcal disease	OMIM:612446
Beta-Thalassemia	Hypertrophic cardiomyopathy, Hepatomegaly, Abnormality of iron homeostasis, Respiratory insuffici...	ORPHA:848
Bare Lymphocyte Syndrome, Type Ii	Recurrent bacterial infections, Cholangitis, Agammaglobulinemia, Infectious encephalitis, Villous...	OMIM:209920
Hereditary Mixed Polyposis Syndrome	Colorectal polyposis, Rectal polyposis, Thyroid carcinoma, Neoplasm of the rectum, Adenomatous co...	ORPHA:157794
Agammaglobulinemia 8, Autosomal Dominant	B lymphocytopenia, Agammaglobulinemia, Recurrent otitis media	OMIM:616941
Candidiasis, Familial, 2	Lymphadenopathy, Chronic oral candidiasis, Decreased serum iron, Onychomycosis, Chronic tinea inf...	OMIM:212050
Beta-Thalassemia Major	Dilated cardiomyopathy, Adrenal insufficiency, Anisopoikilocytosis, Splenomegaly, Hepatosplenomeg...	ORPHA:231214
Immunodeficiency 75	Decreased proportion of class-switched memory B cells, Bronchiectasis, Lymphadenopathy, Hepatospl...	OMIM:619126
Congenital Disorder Of Glycosylation, Type Iil	Inflammation of the large intestine, Esophageal varix, Recurrent infections, Patent ductus arteri...	OMIM:614576
Immunodeficiency 76	B lymphocytopenia, Colitis, Lymphadenopathy, Splenomegaly, Recurrent pneumonia, Lymphopenia, T ly...	OMIM:619164
Axin2-Related Attenuated Familial Adenomatous Polyposis	Colorectal polyposis, Neoplasm of the rectum, Adenomatous colonic polyposis, Colon cancer	ORPHA:401911
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Eczema, Severe varicella zoster infection, Lymphadenopathy, Hepatosplenomegaly, Type I diabetes m...	OMIM:606367
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypocholesterolemia, Anemia, Splenomegaly, Osteopenia, Hypersplenism, Erlenmeyer fl...	OMIM:610539
Aspergillosis	Sinusitis, Neutropenia, Hepatitis, Unusual CNS infection, Eosinophilia, Chronic pulmonary obstruc...	ORPHA:1163
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive	Eczema, Bronchiectasis, Macroglossia, Craniosynostosis, Recurrent otitis media, Joint contracture...	OMIM:618523
Peutz-Jeghers Syndrome	Rectal prolapse, Neoplasm of the small intestine, Gastrointestinal hemorrhage, Abdominal pain, St...	ORPHA:2869
Myelolymphatic Insufficiency	Recurrent bacterial infections, Recurrent viral infections	OMIM:310350
Sea-Blue Histiocyte Disease	Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly	OMIM:269600
Immunodeficiency 48	Eczematoid dermatitis, Hepatomegaly, Pneumonia, Splenomegaly, Panhypogammaglobulinemia	OMIM:269840
Pseudomyxoma Peritonei	Nausea and vomiting, Inflammation of the large intestine, Weight loss, Intestinal obstruction, Ab...	ORPHA:26790
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Abnormal intestine morphology, Failure to thrive, Lymphadenopathy, Recurrent otitis...	OMIM:618495
Autoimmune Lymphoproliferative Syndrome, Type Iia	Increased B cell count, Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-be...	OMIM:603909
Proteasome-Associated Autoinflammatory Syndrome 1	Hallux valgus, Short stature, Lymphadenopathy, Increased circulating interleukin 8, Splenomegaly,...	OMIM:256040
Idiopathic Chronic Eosinophilic Pneumonia	Atopic dermatitis, Hypoxemia, Leukocytosis, Wheezing, Crackles, Weight loss, Increased circulatin...	ORPHA:2902
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Intrauterine growth retardation, Vomiting, Long philtrum, Failure to thrive, Talipe...	OMIM:608104
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Increased circulating antibody level...	OMIM:615285
Immunodeficiency, Common Variable, 3	Recurrent bacterial infections, Reduced isohemagglutinin level, Decreased circulating IgA level, ...	OMIM:613493
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Fasting hypoglycemia, Hypoglycemia, Esophageal varix, Portal fibrosis, Short stature, Recurrent i...	ORPHA:264580
Neuroendocrine Neoplasm Of Appendix	Ovarian neoplasm, Tricuspid stenosis, Mechanical ileus, Intestinal carcinoid, Abdominal colic, Il...	ORPHA:100079
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Autoimmune Lymphoproliferative Syndrome	Neoplasm of the skin, Thyroid carcinoma, Elevated proportion of CD4-negative, CD8-negative, alpha...	ORPHA:3261
Immunodeficiency 12	Recurrent bacterial infections, Recurrent viral infections	OMIM:615468
Temple Syndrome	Cleft palate, Short stature, Micrognathia, High palate, Intrauterine growth retardation, Truncal ...	OMIM:616222
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Lymphadenopathy, Recurrent otitis media, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Ly...	ORPHA:444463
Majeed Syndrome	Inflammatory abnormality of the skin, Leukocytosis, Abnormal inflammatory response, Cachexia, Pus...	ORPHA:77297
Immunodeficiency 52	Bronchiectasis, Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Ly...	OMIM:617514
Immunodeficiency 89 And Autoimmunity	Hypochromic microcytic anemia, Bronchiectasis, Increased circulating IgA level, Increased circula...	OMIM:619632
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eczema, Neutropenia, Villous atrophy, Erythroderma, Glomerulonephritis, Coombs-positive hemolytic...	OMIM:304790
Mismatch Repair Cancer Syndrome 1	Neuroblastoma, Astrocytoma, Plexiform neurofibroma, Adenocarcinoma of the small intestine, Adenom...	OMIM:276300
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	B lymphocytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circl...	OMIM:618987
Neutrophil Actin Dysfunction	Recurrent bacterial infections	OMIM:257150
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
Juvenile Polyposis Of Infancy	High, narrow palate, Cachexia, Rectal prolapse, Adenomatous colonic polyposis, Short stature, Hem...	ORPHA:79076
Triokinase And Fmn Cyclase Deficiency Syndrome	Dilated cardiomyopathy, Hepatomegaly, Failure to thrive in infancy, Pancreatitis, Chronic diarrhe...	OMIM:618805
Leishmaniasis	Hepatomegaly, Abnormal oral cavity morphology, Anorexia, Leukopenia, Elevated hepatic transaminas...	ORPHA:507
Immunodeficiency 14B, Autosomal Recessive	Inflammation of the large intestine, Decreased circulating IgA level, Decreased circulating IgG l...	OMIM:619281
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Hyperlipoproteinemia, Recurrent pancreatitis, Splenomegaly	OMIM:118830
Coronary Artery Disease, Autosomal Dominant 2	Hypertension, Hyperlipidemia, Glucose intolerance, Impaired glucose tolerance, Osteoporosis, Gout...	OMIM:610947
Shwachman-Diamond Syndrome	Sinusitis, Carious teeth, Eczema, Sepsis, Neutropenia, Pancreatic hypoplasia, Short stature, Leuk...	ORPHA:811
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Inflammation of the large intestine, Abnormality of epiphysis morphology...	ORPHA:324964
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Neutropenia, Lymphadenopathy, Recurrent infections, Decreased proportion of CD3-positive T cells,...	ORPHA:169154
Primary Intestinal Lymphangiectasia	Functional abnormality of the gastrointestinal tract, Decreased circulating antibody level, Reduc...	ORPHA:90362
Wiskott-Aldrich Syndrome	Sinusitis, Sepsis, Eczema, Inflammation of the large intestine, Neutropenia, Abnormal platelet fu...	ORPHA:906
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Micrognathia, High palate, Erythroid hyperplasia, Failure to thrive, Pappenheimer bodies, Hypochr...	OMIM:600462
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Skin rash, Hypertriglyceridemia, Splenomegaly	OMIM:619175
Immunodeficiency 82 With Systemic Inflammation	Duodenal ulcer, Hypernatremia, Cholesteatoma, Lymphadenopathy, Hepatitis, Recurrent infections, S...	OMIM:619381
Immunodeficiency 23	Eczema, Severe varicella zoster infection, Neutropenia, Recurrent staphylococcal infections, Eosi...	OMIM:615816
Cd8 Deficiency, Familial	Recurrent bacterial infections, Recurrent viral infections, Recurrent respiratory infections, Bro...	OMIM:608957
Immunodeficiency 37	Decreased circulating antibody level, Colitis, Infectious encephalitis, Recurrent infections	OMIM:616098
Immunodeficiency 31B	Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections	OMIM:613796
Pelvic Organ Prolapse, Susceptibility To	Bowel incontinence, Rectal prolapse	OMIM:176780
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Abnormally low T cell receptor excision circle level, Pneumonia, T lymphocytopenia, Atopic dermat...	OMIM:618806
Macrophage Activation Syndrome	Neutropenia, Lymphadenopathy, Hepatitis, Splenomegaly, Increased circulating ferritin concentrati...	ORPHA:158061
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Hepatomegaly, Neutropenia, Elevated circulating creatine kinase concentration, Macroglossia, Pes ...	OMIM:251900
Lead Poisoning	Imbalanced hemoglobin synthesis, Tubulointerstitial nephritis, Abnormal respiratory system physio...	ORPHA:330015
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Jaundice, Increased circulating...	OMIM:603552
Immunodeficiency 64	Lymphadenopathy, Recurrent infections, Splenomegaly, Increased proportion autoreactive unresponsi...	OMIM:618534
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Carious teeth, Inflammation of the large intestine, Hypoglycemia, Hyperlipidemia, Increased hepat...	ORPHA:79259
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Impaired lymphocyte transformation with phytohemagglutinin, Decreased specific pneumococcal antib...	OMIM:617006
Lysinuric Protein Intolerance	Tubulointerstitial nephritis, Decreased response to growth hormone stimulation test, Decreased ci...	ORPHA:470
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Fasting hypoglycemia, Short stature, Recurrent infections, Splenomegaly, Postnatal growth retarda...	ORPHA:79240
Immunodeficiency, Common Variable, 1	B lymphocytopenia, Hepatomegaly, Decreased proportion of class-switched memory B cells, Pneumonia...	OMIM:607594
Autosomal Dominant Hyper-Ige Syndrome	Eczema, Cleft palate, Atelectasis, Chronic otitis media, Craniosynostosis, Recurrent infections, ...	ORPHA:2314
Selective Igm Deficiency	Sepsis, Thyroid carcinoma, Non-infectious meningitis, Severe varicella zoster infection, Recurren...	ORPHA:331235
Hemoglobin H Disease	Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia	OMIM:613978
Igg4-Related Aortitis	Weight loss, Increased circulating IgG4 level, Complement deficiency, Increased circulating IgE l...	ORPHA:449400
Acquired Idiopathic Sideroblastic Anemia	Neutropenia, Normochromic anemia, Splenomegaly, Pancytopenia, Anemia of inadequate production, Le...	ORPHA:75564
Sepsis In Premature Infants	Neutropenia, Abnormal respiratory system physiology, Functional abnormality of the gastrointestin...	ORPHA:90051
Esophagitis, Eosinophilic, 2	Failure to thrive, Dysphagia, Esophagitis, Vomiting	OMIM:613412
Esophagitis, Eosinophilic, 1	Failure to thrive, Dysphagia, Esophagitis, Vomiting	OMIM:610247
Symptomatic Form Of Hemochromatosis Type 1	Cholangiocarcinoma, Splenomegaly, Increased circulating ferritin concentration, Diabetes mellitus...	ORPHA:465508
Granulomatous disease with defect in neutrophil chemotaxis	Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci	OMIM:233670
Niemann-Pick Disease, Type A	Hepatomegaly, Feeding difficulties in infancy, Constipation, Vomiting, Short stature, Failure to ...	OMIM:257200
Eosinophilic Gastroenteritis	Atopic dermatitis, Leukocytosis, Dysphagia, Allergic rhinitis, Vomiting, Weight loss, Anemia, Mal...	ORPHA:2070
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, F...	OMIM:601859
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymp...	OMIM:614470
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level, Retinal telangiectasia	OMIM:267900
Mucopolysaccharidosis-Plus Syndrome	Sepsis, Neutropenia, Patent ductus arteriosus, Splenomegaly, Recurrent respiratory infections, Hy...	OMIM:617303
Immunodeficiency 57 With Autoinflammation	Inflammation of the large intestine, Bronchiectasis, Failure to thrive, Decreased circulating ant...	OMIM:618108
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly	ORPHA:46532
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Abnormal intestine morphology, Eczema, Short stature, Neutropenia in presence of anti-neutropil a...	ORPHA:391487
Mitochondrial Neurogastrointestinal Encephalomyopathy	Abdominal distention, Small intestinal dysmotility, Diarrhea, Abdominal pain, Vomiting, Hypogonad...	ORPHA:298
Insulin-Resistance Syndrome Type B	Increased serum testosterone level, Fasting hypoglycemia, Abnormality of body weight, Insulin-res...	ORPHA:2298
Hyperbilirubinemia, Shunt, Primary	Hepatomegaly, Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Jaundice, Reticulocytosis,...	OMIM:237800
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations	Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections	OMIM:614868
Complement Factor B Deficiency	Recurrent bacterial infections, Pneumonia, Peritonitis, Meningitis, Recurrent meningococcal disease	OMIM:615561
X-Linked Lymphoproliferative Disease	Myocarditis, Inflammation of the large intestine, Lymphadenopathy, Decreased circulating antibody...	ORPHA:2442
Hemoglobin D Disease	Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia...	ORPHA:90039
Attenuated Familial Adenomatous Polyposis	Colorectal polyposis, Rectal polyposis, Astrocytoma, Neoplasm of the stomach, Adenomatous colonic...	ORPHA:220460
Histiocytosis, Familial Lipochrome	Increased circulating antibody level, Recurrent infections, Increased alpha-globulin, Histiocytosis	OMIM:235900
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent opportunistic infections, Stomatitis, Lymphadenopathy, Recurrent upper and lower respir...	ORPHA:911
Immunodeficiency With Hyper-Igm, Type 5	Recurrent bacterial infections, Decreased circulating IgA level, Decreased circulating IgG level,...	OMIM:608106
Beta-Thalassemia Intermedia	Adrenal insufficiency, Reduced bone mineral density, Splenomegaly, Hepatosplenomegaly, Diabetes m...	ORPHA:231222
Ménétrier Disease	Hypoproteinemia, Anorexia, Hypochromic microcytic anemia, Abnormal gastric mucosa morphology, Sto...	ORPHA:2494
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Eczema, Failure to thrive in infancy, Small for gestational age, Feeding difficulties, Hypoplasia...	OMIM:617241
Leukocyte Adhesion Deficiency Type Ii	Abnormal isohemagglutinin level, Long upper lip, Short stature, Recurrent infections, Umbilical h...	ORPHA:99843
Trimethylaminuria	Anemia, Recurrent pneumonia, Neutropenia, Splenomegaly	OMIM:602079
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hypertension, Hyponatremia, Rectal prolapse, Unconjugated hyperbilirubinemia, Bloody diarrhea, Hy...	ORPHA:90038
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Recurrent bacterial infections, Recurrent opportunistic infections, Decreased circulating IgA lev...	ORPHA:275
Punctate Palmoplantar Keratoderma Type 1	Neoplasm of the lung, Esophageal neoplasm, Adenocarcinoma of the small intestine, Stomach cancer,...	ORPHA:79501
Immunodeficiency 58	Eczema, Short stature, Chronic otitis media, Decreased circulating antibody level, Fatigue, Recur...	OMIM:618131
Immunodeficiency 87 And Autoimmunity	Dilated cardiomyopathy, Sepsis, Third degree atrioventricular block, Cleft palate, Increased feca...	OMIM:619573
Lysosomal Acid Lipase Deficiency	Adrenal insufficiency, Esophageal varix, Bone-marrow foam cells, Splenomegaly, Hepatosplenomegaly...	OMIM:278000
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Sinusitis, Splenomegaly, Decreased circulating total IgM, Abnormality of pelvic girdle bone morph...	OMIM:102700
Congenital Disorder Of Glycosylation, Type Ia	Thrombocytosis, Feeding difficulties in infancy, Hepatomegaly, Hepatic fibrosis, Vomiting, Hyperg...	OMIM:212065
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Bronchiectasis, Lymphadenopathy, Abscess,...	OMIM:150550
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Anemia, Splenomegaly, Increased circulating...	ORPHA:100024
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Niemann-Pick Disease, Type B	Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, B...	OMIM:607616
Immunodeficiency 38 With Basal Ganglia Calcification	Recurrent mycobacterial infections	OMIM:616126
Whipple Disease	Myocarditis, Splenomegaly, Gastrointestinal hemorrhage, Uveitis, Diarrhea, Abdominal pain, Hypona...	ORPHA:3452
Blackfan-Diamond Anemia	Neutropenia, Triphalangeal thumb, Short stature, Normochromic anemia, Erythroid hypoplasia, Cleft...	ORPHA:124
Polymerase Proofreading-Related Adenomatous Polyposis	Colorectal polyposis, Neoplasm of the rectum, Adenomatous colonic polyposis, Endometrial carcinom...	ORPHA:447877
Immunodeficiency 60 And Autoimmunity	Bronchiectasis, Decreased circulating IgA level, Recurrent sinopulmonary infections, Decreased ci...	OMIM:618394
Wolcott-Rallison Syndrome	Metaphyseal dysplasia, Neutropenia, Short stature, Recurrent infections, Hyperammonemia, Lymphocy...	ORPHA:1667
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Facial papilloma, Neutropenia in presence of anti-neutropil antibodies,...	OMIM:619220
Secondary Intestinal Lymphangiectasia	Right ventricular failure, Constrictive pericarditis, Decreased prealbumin level, Reduced circula...	ORPHA:90363
Epidermolysis Bullosa Acquisita	Inflammation of the large intestine, Abdominal pain	ORPHA:46487
Mutyh-Related Attenuated Familial Adenomatous Polyposis	Colorectal polyposis, Rectal polyposis, Adenomatous colonic polyposis, Adenocarcinoma of the colo...	ORPHA:247798
Alg6-Cdg	Macroglossia, Feeding difficulties, Failure to thrive, Shortening of all distal phalanges of the ...	ORPHA:79320
Cronkhite-Canada Syndrome	Hepatomegaly, Cachexia, Anorexia, Stomach cancer, Tapered finger, Gastrointestinal carcinoma, Ane...	ORPHA:2930
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Abnormal ilium morphology, Broad ischia, Decreased circulating antibody level, Capillary hemangio...	ORPHA:508533
Hepatoportal Sclerosis	Esophageal varix, Leukopenia, Hepatocellular carcinoma, Anemia, Hyperbilirubinemia, Gastric varix...	ORPHA:64743
Amoebiasis Due To Entamoeba Histolytica	Constrictive pericarditis, Pleural empyema, Elevated circulating alkaline phosphatase concentrati...	ORPHA:67
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Sepsis, Recurrent opportunistic infections, Recurrent herpes, Severe recurrent varicella, Decreas...	ORPHA:276
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	B lymphocytopenia, Pneumonia, Arthritis, Otitis media, Panhypogammaglobulinemia, T lymphocytopeni...	OMIM:601457
Majeed Syndrome	Inflammatory abnormality of the skin, Growth delay, Erythroid hyperplasia, Failure to thrive, Ost...	OMIM:609628
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive	Atopic dermatitis, Recurrent bacterial infections, Eczema, Recurrent fungal infections, Recurrent...	OMIM:243700
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema	Dysphagia, Inflammation of the large intestine, Eczema, Failure to thrive, Decreased circulating ...	OMIM:608809
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute lymphoblastic leukemia, Neutropenia, Splenomegaly, Increased circulating ferritin concentra...	ORPHA:158057
Familial Cold Autoinflammatory Syndrome 2	Leukocytosis, Lymphadenopathy, Arthritis, Splenomegaly, Skin rash, Recurrent aphthous stomatitis,...	OMIM:611762
Netherton Syndrome	Abnormal intestine morphology, Allergic rhinitis, Villous atrophy, Erythroderma, Failure to thriv...	OMIM:256500
Sweet Syndrome	Dilated cardiomyopathy, Inflammation of the large intestine, Recurrent infections, Acne inversa, ...	ORPHA:3243
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency	Shock, Hypoproteinemia, Abnormal intestine morphology, Anorexia, Neutropenia, Vomiting, Decreased...	OMIM:600351
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Atopic dermatitis, B lymphocytopenia, Sinusitis, Decreased specific antibody response to polysacc...	ORPHA:70593
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion...	OMIM:603902
Autoimmune Hepatitis	Spider hemangioma, Inflammation of the large intestine, Hepatocellular carcinoma, Glomerulonephri...	ORPHA:2137
Primary Biliary Cholangitis	Abnormality of the intrahepatic bile duct, Abdominal distention, Hepatitis, Conjugated hyperbilir...	ORPHA:186
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro...	OMIM:133180
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoglycemia, Unconjugated hyperbilirubinemia, Esophageal varix, Rickets, Short stature, Slender ...	OMIM:613658
Immune Deficiency Disease	Recurrent bacterial infections, Cholangitis, Recurrent viral infections, Fulminant hepatitis, Dec...	OMIM:242850
Urban-Rogers-Meyer Syndrome	Toe syndactyly, Micrognathia, Flexion contracture of toe, Short stature, Abnormality of epiphysis...	ORPHA:3409
Combined Immunodeficiency Due To Partial Rag1 Deficiency	B lymphocytopenia, Interstitial pneumonitis, Neutropenia in presence of anti-neutropil antibodies...	ORPHA:231154
Blue Rubber Bleb Nevus	Cavernous hemangioma, Gastrointestinal infarctions, Visceral angiomatosis, Volvulus, Microcytic a...	ORPHA:1059
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Eczema, Decreased serum insulin-like growth factor 1, Celiac disease, Short stature, Recurrent in...	OMIM:618985
Atransferrinemia	Congestive heart failure, Atransferrinemia, Hypochromic anemia, Abnormality of the liver	OMIM:209300
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Pyloric stenosis, Cleft palate, Short stature, Postnatal growth retardation, Micrognathia, High p...	ORPHA:96184
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly	OMIM:206400
X-Linked Agammaglobulinemia	Sinusitis, Sepsis, Neutropenia, Short stature, Chronic otitis media, Hepatitis, Conjunctivitis, R...	ORPHA:47
Red Cell Phospholipid Defect With Hemolysis	Reticulocytosis, Intermittent jaundice, Hyperbilirubinemia, Splenomegaly	OMIM:179700
Idiopathic Hypereosinophilic Syndrome	Dilated cardiomyopathy, Cholangitis, Eczema, Feeding difficulties in infancy, Portal fibrosis, Ab...	ORPHA:3260
Hamamy Syndrome	Smooth philtrum, Syndactyly, Micrognathia, High palate, Hypodontia, Mitral regurgitation, Long ph...	OMIM:611174
Severe Combined Immunodeficiency, X-Linked	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Pne...	OMIM:300400
Secondary Short Bowel Syndrome	Aganglionic megacolon, Villous atrophy, Abnormality of the small intestine, Vomiting, Failure to ...	ORPHA:95427
Ganglioneuroma	Colorectal polyposis, Hypertension, Neoplasm of the adrenal gland, Functional intestinal obstruct...	ORPHA:251992
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Micrognathia, High palate, Intrauterine growth retardation, Short philtrum, Maturity-onset diabet...	ORPHA:254531
Abetalipoproteinemia	Talipes equinovarus, Hypotriglyceridemia, Steatorrhea, Respiratory failure, Decreased HDL cholest...	ORPHA:14
Preeclampsia	Hypertension, Elevated diastolic blood pressure, Intrauterine growth retardation, Helicobacter py...	ORPHA:275555
Bile Acid Synthesis Defect, Congenital, 1	Hepatomegaly, Giant cell hepatitis, Acholic stools, Rickets, Hypocholesterolemia, Failure to thri...	OMIM:607765
Hemophagocytic Lymphohistiocytosis, Familial, 2	Lymphadenopathy, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomegaly, ...	OMIM:603553
Bacterial Toxic-Shock Syndrome	Sinusitis, Myocarditis, Sepsis, Severe varicella zoster infection, Fasciitis, Hepatitis, Septic a...	ORPHA:36234
Shigellosis	Myocarditis, Sepsis, Hypoglycemia, Tenesmus, Uveitis, Abdominal pain, Conjunctivitis, Abnormal bl...	ORPHA:810
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency	Fasting hypoglycemia, Esophageal varix, Portal fibrosis, Splenomegaly, Diarrhea, Abnormal erythro...	ORPHA:370
Sting-Associated Vasculopathy, Infantile-Onset	Recurrent infections, Raynaud phenomenon, Recurrent respiratory infections, Elevated circulating ...	OMIM:615934
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Dilated cardiomyopathy, Carious teeth, Gastrostomy tube feeding in infancy, Anal fissure, Malnutr...	ORPHA:89842
Immunodeficiency 13	B lymphocytopenia, Bronchiectasis, Recurrent otitis media, Decreased proportion of CD4-positive h...	OMIM:615518
Aicardi-Goutieres Syndrome 9	Increased blood pressure, Hepatosplenomegaly, Acute pancreatitis, Portal hypertension, Hemolytic ...	OMIM:619487
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Mediastinal lymphadenopathy, Bronchiectasis, Lymphadenopathy, Recurrent otitis media, Decreased s...	OMIM:300853
Congenital Disorder Of Glycosylation, Type Iio	Hepatomegaly, Elevated hepatic transaminase, Increased LDL cholesterol concentration, Elevated ci...	OMIM:616828
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Micrognathia, High palate, Short stature, Talipes equinovarus, Failure to thrive, Malar flattenin...	ORPHA:98791
Immunodeficiency 25	Erythroderma, Recurrent herpes, Complete or near-complete absence of specific antibody response t...	OMIM:610163
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Psoriasiform dermatitis, Eczema, Hepatomegaly, Sepsis, Bronchiectasis, Decreased circulating IgA ...	OMIM:616100
Wiskott-Aldrich Syndrome	Sepsis, Impaired lymphocyte transformation with phytohemagglutinin, Inflammation of the large int...	OMIM:301000
Immunoerythromyeloid Hypoplasia	Lymphoproliferative disorder, Decreased circulating IgG level, Absent leukocyte alkaline phosphat...	OMIM:242880
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Carious teeth, Hepatomegaly, Allergic rhinitis, Failure to thrive, Anemia, Splenomegaly, Osteopen...	OMIM:612714
Glycogen Storage Disease Vi	Hepatomegaly, Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, Increased hepatic glyco...	OMIM:232700
Trichohepatoenteric Syndrome 2	Villous atrophy, Small for gestational age, Colitis, Failure to thrive, Hepatitis, Diarrhea	OMIM:614602
Syndromic Diarrhea	Short stature, Hypoplasia of the thymus, Recurrent infections, Patent ductus arteriosus, Splenome...	ORPHA:84064
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome	Pustule, Myositis, Acne, Arthritis, Increased inflammatory response, Crohn's disease, Increased c...	ORPHA:69126
Maternal Uniparental Disomy Of Chromosome 4	Diabetes insipidus, Short stature, Hypocholesterolemia, Elevated circulating creatine kinase conc...	ORPHA:96180
Immunodeficiency, Common Variable, 2	Recurrent bacterial infections, Bronchiectasis, Decreased circulating IgA level, Recurrent bronch...	OMIM:240500
Thymoma	Imbalanced hemoglobin synthesis, Leukemia, Decreased circulating antibody level, Prostate neoplas...	ORPHA:99867
Avian Influenza	Sepsis, Hepatitis, Respiratory failure, Diarrhea, Elevated circulating C-reactive protein concent...	ORPHA:454836
Wiskott-Aldrich Syndrome, Autosomal Dominant	Sinusitis, Eczema, Inflammation of the large intestine, Oral bleeding, Decreased circulating tota...	OMIM:600903
Proteus-Like Syndrome	Thymus hyperplasia, Lower limb asymmetry, Open bite, Hemangioma, Mandibular prognathia, Hyperosto...	ORPHA:2969
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis, Oral ulcer...	OMIM:618852
Al Amyloidosis	Abdominal distention, Gastroparesis, Gastrointestinal hemorrhage, Elevated circulating alkaline p...	ORPHA:85443
Late-Onset Isolated Acth Deficiency	Sepsis, Hypoglycemia, Hepatitis, Type I diabetes mellitus, Adrenocorticotropin deficient adrenal ...	ORPHA:199299
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Erythroid hyperplasia, Anemia, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, A...	OMIM:613673
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly	ORPHA:231393
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypergalactosemia, Decreased circulating antibody level, Hyperammonemia, Hyperthreoninemia, Hepat...	ORPHA:247598
Alg1-Cdg	Hypoalbuminemia, Sepsis, Recurrent infections, Cardiomyopathy, Chronic diarrhea, Decreased liver ...	ORPHA:79327
Cernunnos-Xlf Deficiency	B lymphocytopenia, Decreased circulating antibody level, Anemia, Lymphopenia, Thrombocytopenia, T...	ORPHA:169079
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion of marg...	OMIM:619375
Neutropenia, Severe Congenital, X-Linked	Recurrent bacterial infections	OMIM:300299
Immunodeficiency 16	Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly	OMIM:615593
Autosomal Dominant Spastic Paraplegia Type 29	Impaired proprioception, Hyperbilirubinemia, Abnormal rectum morphology, Impaired vibratory sensa...	ORPHA:101009
Diarrhea 7, Protein-Losing Enteropathy Type	Villous atrophy, Hyperlipidemia, Vomiting, Failure to thrive, Hypercholesterolemia, Hypoalbuminem...	OMIM:615863
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased serum iron, Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Unconj...	ORPHA:766
Hemochromatosis Type 2	Dilated cardiomyopathy, Abnormality of endocrine pancreas physiology, Abnormality of iron homeost...	ORPHA:79230
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Mild postnatal growth retardation, Rectal prolapse, Erysipelas, Intestinal lymphangiectasia, Pach...	OMIM:235510
Rothmund-Thomson Syndrome Type 1	Carious teeth, Neoplasm of the skin, Genu varum, Neutropenia, Short stature, Leukemia, Functional...	ORPHA:221008
Degcags Syndrome	Pyloric stenosis, Smooth philtrum, Talipes equinovarus, Recurrent infections, Patent ductus arter...	OMIM:619488
Cog4-Cdg	Recurrent infection of the gastrointestinal tract, Failure to thrive in infancy, Growth delay, Fe...	ORPHA:263501
Immunodeficiency 47	Decreased circulating antibody level, Recurrent infections, Splenomegaly, Accessory spleen, Decre...	OMIM:300972
Rothmund-Thomson Syndrome Type 2	Carious teeth, Neoplasm of the skin, Cleft palate, Neutropenia, Genu varum, Short stature, Leukem...	ORPHA:221016
Immunodeficiency 85 And Autoimmunity	Eczema, Tube feeding, Villous atrophy, Erythroderma, Vomiting, Failure to thrive in infancy, Decr...	OMIM:619510
Hemochromatosis, Type 1	Testicular atrophy, Increased serum iron, Telangiectasia, Hepatomegaly, Hepatocellular carcinoma,...	OMIM:235200
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Lymphangiectasis, Villous atrophy, Hepatic fibrosis, Vomiting, Failure to thrive, H...	OMIM:602579
Autoinflammatory Syndrome, Familial, Behcet-Like	Colitis, Anterior uveitis, Ileal ulcer, Lymphopenia, Skin rash, Oral ulcer, Thrombocytopenia, Hem...	OMIM:616744
Congenital Generalized Lipodystrophy	Hypertrophic cardiomyopathy, Hepatomegaly, Precocious puberty in females, Bone cyst, Insulin resi...	ORPHA:528
Autosomal Erythropoietic Protoporphyria	Eczema, Cholelithiasis, Decreased liver function, Cirrhosis, Microcytic anemia, Abnormal circulat...	ORPHA:79278
Aggressive Systemic Mastocytosis	Neutropenia, Leukemia, Lymphadenopathy, Pathologic fracture, Hepatosplenomegaly, Hypersplenism, G...	ORPHA:98850
Marburg Hemorrhagic Fever	Hypoglycemia, Neutrophilia in presence of infection, Lymphadenopathy, Odynophagia, Hyperammonemia...	ORPHA:99826
Autoimmune Hemolytic Anemia, Cold Type	Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly	ORPHA:228312
Refractory Anemia With Excess Blasts	Leukocytosis, Chronic infection, Retinal hemorrhage, Palpitations, Abnormal mean corpuscular volu...	ORPHA:86839
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia, Anorexia, Hypokalemia, Vomiting, Xerostomia, Gastrointestinal carcinoma, Anemia, Malabs...	OMIM:175500
Congenital Disorder Of Glycosylation, Type Iiw	Pes planus, Splenomegaly, Type I diabetes mellitus, Elevated circulating alkaline phosphatase con...	OMIM:619525
Hemoglobin C-Beta-Thalassemia Syndrome	Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly	ORPHA:231242
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Micrognathia, Severe postnatal growth retardation, Short stature, Insulin-resistant diabetes mell...	ORPHA:293967
Hemochromatosis, Type 4	Hepatomegaly, Glucose intolerance, Impaired glucose tolerance, Anemia, Elevated transferrin satur...	OMIM:606069
Wolman Disease	Nausea and vomiting, Adrenal insufficiency, Cachexia, Hepatomegaly, Esophageal varix, Growth dela...	ORPHA:75233
Cyclic Neutropenia	Sinusitis, Sepsis, Lymphadenopathy, Periodontitis, Cyclic neutropenia, Abdominal pain, Decreased ...	ORPHA:2686
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Po...	OMIM:615234
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Dilated cardiomyopathy, Carious teeth, Decreased plasma total carnitine, Anal fissure, Malnutriti...	ORPHA:79408
Igg4-Related Kidney Disease	Tubulointerstitial nephritis, Lymphadenopathy, Eosinophilia, Elevated circulating C-reactive prot...	ORPHA:449395
Klippel-Trénaunay Syndrome	Hepatomegaly, Respiratory insufficiency, Lower limb asymmetry, Hemangioma, Patent ductus arterios...	ORPHA:90308
Alpha-Thalassemia-Myelodysplastic Syndrome	Neutropenia, Myelodysplasia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, D...	ORPHA:231401
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Cholangitis, Sepsis, Decreased specific pneumococcal antibody level, Recurrent herpes, Recurrent ...	ORPHA:183675
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Hepatic fibrosis, Portal fibrosis, Iron deficiency anemia, Hyperbilirubinemia, Sple...	OMIM:616278
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Neutropenia, Infectious encephalitis, Lymphadenopathy, Decreased circulating IgG le...	OMIM:308240
Reticular Dysgenesis	Sepsis, Leukopenia, Chronic otitis media, Failure to thrive, Weight loss, Decreased circulating a...	ORPHA:33355
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Infectious encephalitis, ...	OMIM:267700
Congenital Disorder Of Glycosylation, Type Ig	Short femur, Short philtrum, Small for gestational age, Talipes equinovarus, Failure to thrive, F...	OMIM:607143
Acatalasemia	Type II diabetes mellitus, Gingival bleeding, Premature loss of permanent teeth, Reduced catalase...	ORPHA:926
Proteus Syndrome	Carious teeth, Ovarian neoplasm, Hallux valgus, Thymus hyperplasia, Sirenomelia, Meningioma, Neop...	ORPHA:744
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Sepsis, Patent ductus arteriosus, Hepatosplenomegaly, Recurrent respiratory infections, Conjuncti...	ORPHA:505248
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Sepsis, Growth delay, Failure to thrive, Feeding difficulties, Decreased circulating antibody lev...	ORPHA:79396
Felty Syndrome	Rheumatoid arthritis, Neutropenia, Splenomegaly	OMIM:134750
Pyoderma Gangrenosum	Inflammation of the large intestine, Pustule, Myelodysplasia, Myositis, Arthralgia, Myalgia, Incr...	ORPHA:48104
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly	OMIM:607685
Autoinflammation With Arthritis And Dyskeratosis	Keratoconjunctivitis sicca, Hepatomegaly, Growth delay, Increased circulating IgA level, Failure ...	OMIM:617388
Lipodystrophy, Congenital Generalized, Type 4	Pyloric stenosis, Recurrent infections, Splenomegaly, Osteoporosis, Osteopenia, Hepatic steatosis...	OMIM:613327
Solitary Fibrous Tumor/Hemangiopericytoma	Genital neoplasm, Hypoglycemia, Constipation, Neoplasm of the lung, Soft tissue neoplasm, Prostat...	ORPHA:2126
Plummer-Vinson Syndrome	Decreased circulating ferritin concentration, Dysphagia, Hypochromic microcytic anemia, Iron defi...	ORPHA:54028
Omenn Syndrome	B lymphocytopenia, Hypoproteinemia, Hepatomegaly, Erythroderma, Pneumonia, Lymphadenopathy, Hypop...	OMIM:603554
Rothmund-Thomson Syndrome	Carious teeth, Neoplasm of the skin, Neutropenia, Short stature, Leukemia, Aplasia/Hypoplasia of ...	ORPHA:2909
Hepatocellular Carcinoma	Hypoglycemia, Esophageal varix, Hemobilia, Abdominal distention, Abnormality of the hepatic vascu...	ORPHA:88673
Cholesteryl Ester Storage Disease	Nausea and vomiting, Hepatomegaly, Esophageal varix, Splenomegaly, Hypercholesterolemia, Cirrhosi...	ORPHA:75234
Graft Versus Host Disease	Stomatitis, Lymphadenopathy, Fasciitis, Recurrent infections, Hepatosplenomegaly, Dupuytren contr...	ORPHA:39812
Congenital Enterovirus Infection	Myocarditis, Leukocytosis, Sepsis, Neutropenia, Infectious encephalitis, Leukopenia, Hepatitis, A...	ORPHA:292
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatomegaly, Feeding difficulties in infancy, Generalized aminoaciduria, Hypoglycemia, Hepatocel...	OMIM:251880
Isolated Sedoheptulokinase Deficiency	Hypochromic microcytic anemia, Short stature, Severe postnatal growth retardation, Hepatitis, Ane...	ORPHA:440713
Oculocerebral Hypopigmentation Syndrome Of Preus	Widely spaced teeth, High, narrow palate, High palate, Microdontia, Growth delay, Hypochromic anemia	OMIM:257790
Systemic Mastocytosis With Associated Hematologic Neoplasm	Syncope, Lymphadenopathy, Normochromic anemia, Chronic myelomonocytic leukemia, Splenomegaly, Eos...	ORPHA:98849
Kimura Disease	Abnormal salivary gland morphology, Lymphadenopathy, Increased circulating IgE level, Eosinophili...	ORPHA:482
Radiation Proctitis	Tenesmus, Abnormality of gastrointestinal vasculature, Intestinal obstruction, Abnormal rectum mo...	ORPHA:70475
Lysosomal Acid Lipase Deficiency	Microvesicular hepatic steatosis, Esophageal varix, Abdominal distention, Bone-marrow foam cells,...	ORPHA:275761
Immunodeficiency By Defective Expression Of Mhc Class Ii	Sinusitis, Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Rec...	ORPHA:572
Alpha-Thalassemia	Myelodysplasia, Anemia, Abnormal hemoglobin, Cholelithiasis, Splenomegaly, Hypersplenism, Microcy...	ORPHA:846
Analbuminemia	Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Osteopor...	OMIM:616000
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Distal arthrogryposis, Cachexia, Hepatomegaly, Hypoglycemia, Vomiting, Elevated circulating creat...	ORPHA:42
Hemochromatosis, Type 3	Increased serum iron, Neutropenia, Hypogonadotropic hypogonadism, Anemia, Elevated transferrin sa...	OMIM:604250
Schnitzler Syndrome	Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Arthritis, Lymphoma, Splenomegaly, Vasculiti...	ORPHA:37748
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Eczema, Short stature, Lymphadenopathy, Recurrent infections, Splenomegaly, Crohn's disease, Hepa...	OMIM:618935
Congenital Disorder Of Glycosylation, Type Iip	Increased LDL cholesterol concentration, Decreased circulating ceruloplasmin concentration, Decre...	OMIM:616829
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia	Atopic dermatitis, Lactose intolerance, Feeding difficulties in infancy, Allergic rhinitis, Dysph...	ORPHA:411696
Renpenning Syndrome	High, narrow palate, Cachexia, Cleft palate, Short philtrum, Growth delay, Mandibular prognathia,...	ORPHA:3242
Acute Monoblastic/Monocytic Leukemia	Central hypothyroidism, Leukocytosis, Anorexia, Ankle swelling, Weight loss, Anemia, Hypochromic ...	ORPHA:514
X-Linked Sideroblastic Anemia	Abnormality of iron homeostasis, Glucose intolerance, Anemia, Splenomegaly, Elevated hepatic tran...	ORPHA:75563
Infection-Related Hemolytic Uremic Syndrome	Brain abscess, Myocarditis, Septic arthritis, Pleural empyema, Intussusception, Diabetes mellitus...	ORPHA:544482
African Iron Overload	Increased circulating cortisol level, Hepatitis, Increased circulating ferritin concentration, Di...	ORPHA:139507
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Leukocytosis, Thrombocytosis, Bloody diarrhea, Defective T cell proliferation, Severe varicella z...	OMIM:618213
Zygomycosis	Brain abscess, Sinusitis, Colon perforation, Myocarditis, Neutropenia, Fasciitis, Hepatitis, Mele...	ORPHA:73263
Mpi-Cdg	Portal hypertension, Hepatomegaly, Hepatic fibrosis, Vomiting, Failure to thrive, Hyperinsulinemi...	ORPHA:79319
Glycogen Storage Disease Ixa1	Hepatomegaly, Hypoglycemia, Growth delay, Hypercholesterolemia, Hypertriglyceridemia, Elevated he...	OMIM:306000
Immunodeficiency With Hyper-Igm, Type 1	Sepsis, Neutropenia, Stomatitis, Hepatitis, Splenomegaly, Dysgammaglobulinemia, Diarrhea, Hemolyt...	OMIM:308230
Whim Syndrome 1	Recurrent bacterial infections, Bronchiectasis, Decreased circulating IgG level, Decreased circul...	OMIM:193670
Alpha-Heavy Chain Disease	Hepatomegaly, Abnormality of the small intestine, Growth delay, Lymphadenopathy, Anemia, Malabsor...	ORPHA:100025
Linear Iga Dermatosis	Inflammation of the large intestine	ORPHA:46488
Immunodeficiency With Hyper-Igm, Type 4	Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Bronchiectasis...	OMIM:608184
Somatostatinoma	Increased circulating cortisol level, Neoplasm of the small intestine, Primary hyperparathyroidis...	ORPHA:97283
Autosomal Dominant Hypophosphatemic Rickets	Growth delay, Rickets, Iron deficiency anemia, Bowing of the legs, Hypophosphatemia, Elevated cir...	ORPHA:89937
Focal Segmental Glomerulosclerosis 1	Hypertension, Anemia, Hyperlipidemia, Hypoalbuminemia	OMIM:603278
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness	Recurrent Haemophilus influenzae infections, Otitis media, Chronic sinusitis, Recurrent bronchitis	OMIM:300455
Neuroendocrine Tumor Of Stomach	Right ventricular failure, Facial telangiectasia, Atypical pulmonary carcinoid tumor, Melena, Nau...	ORPHA:100075
Caspase 8 Deficiency	Eczema, Pneumonia, Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG le...	OMIM:607271
Oculocerebrorenal Syndrome Of Lowe	Odontogenic neoplasm, Neoplasm of the skin, Feeding difficulties in infancy, Carious teeth, Short...	ORPHA:534
Multiple Myeloma	Hyperproteinemia, Hypercalcemia, Increased circulating IgA level, Functional abnormality of the g...	ORPHA:29073
Peroxisome Biogenesis Disorder 3B	Hepatomegaly, Hypocholesterolemia, Failure to thrive, Osteoporosis, Malar flattening, Steatorrhea	OMIM:266510
Chronic Myeloid Leukemia	Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple...	ORPHA:521
Immunodeficiency 92	Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy...	OMIM:619652
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Interstitial pneumonitis, Decreased circulating IgA level, Recurrent infections, Bronchiolitis, A...	OMIM:614878
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Microvesicular hepatic steatosis, Hypoglycemia, Intrauterine growth retardation, Failure to thriv...	OMIM:617156
Complement Component 3 Deficiency, Autosomal Recessive	Recurrent bacterial infections, Membranoproliferative glomerulonephritis	OMIM:613779
Fibular Hemimelia	Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty...	ORPHA:93323
Morbid Obesity And Spermatogenic Failure	Hypertension, Decreased HDL cholesterol concentration, Type II diabetes mellitus, Insulin resista...	OMIM:615703
Postinfectious Vasculitis	Severe varicella zoster infection, Raynaud phenomenon, Recurrent candida infections, Elevated cir...	ORPHA:48435
Blue Rubber Bleb Nevus	Volvulus, Intussusception, Rectal prolapse, Intestinal bleeding	OMIM:112200
Congenital Disorder Of Glycosylation, Type Iq	Elevated hepatic transaminase, Eczema, Microcytic anemia	OMIM:612379
Dermatitis Herpetiformis	Recurrent fractures, Eczema, Microcytic anemia, Malabsorption	ORPHA:1656
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Dilated cardiomyopathy, Hepatomegaly, Esophageal varix, Respiratory insufficiency, Elevated hepat...	ORPHA:367
Congenital Disorder Of Glycosylation, Type Iik	Hepatomegaly, Metaphyseal dysplasia, Growth delay, Short stature, Elevated circulating creatine k...	OMIM:614727
Brucellosis	Myocarditis, Lymphadenopathy, Knee osteoarthritis, Septic arthritis, Splenomegaly, Hypersplenism,...	ORPHA:1304
Netherton Syndrome	Eczema, Erythroderma, Short stature, Decreased circulating antibody level, Recurrent infections, ...	ORPHA:634
Immunodeficiency 33	Increased circulating IgA level, Disseminated nontuberculous mycobacterial infection, Recurrent b...	OMIM:300636
Aredyld Syndrome	Hepatomegaly, Cachexia, Smooth philtrum, Type II diabetes mellitus, Intrauterine growth retardati...	ORPHA:1133
Addison Disease	Androgen insufficiency, Hypoglycemia, Adrenal hypoplasia, Type I diabetes mellitus, Premature ova...	ORPHA:85138
Thymic Aplasia	Sinusitis, Sepsis, Chronic otitis media, Recurrent infections, Recurrent candida infections, Diar...	ORPHA:83471
Ataxia-Pancytopenia Syndrome	Hypoplastic anemia, Acute myelomonocytic leukemia, Decreased circulating antibody level, Splenome...	ORPHA:2585
Immunodeficiency 68	B lymphocytopenia, Lymphadenitis, Abscess, Septic arthritis, Recurrent skin infections, T lymphoc...	OMIM:612260
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	B lymphocytopenia, Neutropenia, Leukopenia, Bronchiectasis, Lymphadenitis, Partial absence of spe...	OMIM:618986
Potocki-Lupski Syndrome	Feeding difficulties in infancy, High palate, Smooth philtrum, Micrognathia, Small for gestationa...	OMIM:610883
Growth Hormone Insensitivity Syndrome	Type II diabetes mellitus, Diabetes insipidus, Hypoglycemia, Insulin resistance, Failure to thriv...	ORPHA:181393
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Panniculitis, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceri...	OMIM:618398
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Cachexia, Gastrointestinal dysmotility, Abdominal distention, Slender build, Weight loss, Malabso...	OMIM:613662
Anemia, Sideroblastic, 4	Abnormal erythrocyte morphology, Sideroblastic anemia, Refractory anemia with ringed sideroblasts	OMIM:182170
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Growth delay...	ORPHA:171706
Hemochromatosis, Type 2B	Increased serum iron, Hepatomegaly, Hepatic fibrosis, Anemia, Elevated transferrin saturation, Ca...	OMIM:613313
Congenital Bile Acid Synthesis Defect Type 2	Abnormality of the intrahepatic bile duct, Rickets, Conjugated hyperbilirubinemia, Steatorrhea, E...	ORPHA:79303
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Thrombocytosis, Macrocytic anemia, Eczema, Vomiting, Megaloblastic anemia, Decreased circulating ...	OMIM:617780
Chylomicron Retention Disease	Growth delay, Vomiting, Hypocholesterolemia, Failure to thrive, Hypotriglyceridemia, Steatorrhea,...	OMIM:246700
Mccune-Albright Syndrome	Increased serum testosterone level, Goiter, Fibrous dysplasia of the bones, Increased circulating...	ORPHA:562
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hypertrophic cardiomyopathy, Hepatocellular necrosis, Reduced ejection fraction, Exercise-induced...	OMIM:201475
Multicentric Reticulohistiocytosis	Cachexia, Arthritis, Histiocytosis	ORPHA:139436
Idiopathic Achalasia	Wheezing, Decreased prealbumin level, Dysphagia, Recurrent aspiration pneumonia, Weight loss, Cou...	ORPHA:930
Combined Oxidative Phosphorylation Deficiency 53	Hepatomegaly, Hypochromic microcytic anemia, Short stature, Failure to thrive, Abdominal distenti...	OMIM:619423
Schwartz-Jampel Syndrome	Odontogenic neoplasm, Feeding difficulties in infancy, Cleft palate, Hip contracture, Short statu...	ORPHA:800
Trichohepatoenteric Syndrome 1	Short stature, Diarrhea, Large placenta, Hypermethioninemia, Jaundice, Increased mean platelet vo...	OMIM:222470
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Sinusitis, Enteroviral hepatitis, Recurrent bacterial infections, Infectious encephalitis, Pyoder...	OMIM:307200
Bloom Syndrome	Neoplasm of the skin, Acute lymphoblastic leukemia, Severe varicella zoster infection, Recurrent ...	ORPHA:125
Immunodeficiency, Common Variable, 13	Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level	OMIM:616873
Boutonneuse Fever	Cervical lymphadenopathy, Leukopenia, Nausea, Lymphadenopathy, Increased circulating IgG level, R...	ORPHA:83313
Chylomicron Retention Disease	Growth delay, Vomiting, Hypocholesterolemia, Acanthocytosis, Abdominal distention, Failure to thr...	ORPHA:71
Ileal Neuroendocrine Tumor	Right ventricular failure, Tricuspid stenosis, Small intestine carcinoid, Lymphadenopathy, Palpit...	ORPHA:100078
Jejunal Neuroendocrine Tumor	Right ventricular failure, Tricuspid stenosis, Small intestine carcinoid, Lymphadenopathy, Palpit...	ORPHA:100077
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Short stature, Hypoplastic iliac wing, Mandibular prognathia, Increased circulating IgE level, Hi...	ORPHA:1858
Galloway-Mowat Syndrome 6	High palate, Microdontia, Wide mouth, Short stature, Decreased response to growth hormone stimula...	OMIM:618347
Dyskeratosis Congenita, Autosomal Recessive 5	Intrauterine growth retardation, Decreased circulating antibody level, Bone marrow hypocellularit...	OMIM:615190
Primary Myelofibrosis	Leukocytosis, Thrombocytosis, Anorexia, Cachexia, Hepatomegaly, Hemangioma, Lymphadenopathy, Anem...	ORPHA:824
Igg4-Related Ophthalmic Disease	Sinusitis, Cholangitis, Lymphadenopathy, Abnormality of the sphenoid sinus, Eosinophilia, Elevate...	ORPHA:449563
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Hypertriglyceridemia	OMIM:614480
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short lower limbs, Upper limb undergrowth, Genu varum, Short stature, Metaphyseal irregularity, R...	ORPHA:93315
Desmoplastic Small Round Cell Tumor	Nausea and vomiting, Cachexia, Neoplasm of the central nervous system, Neoplasm of the lung, Ovar...	ORPHA:83469
Thrombotic Thrombocytopenic Purpura	Microangiopathic hemolytic anemia, Decreased serum creatinine, Myocardial infarction, Abnormal la...	ORPHA:54057
Hereditary Amyloidosis With Primary Renal Involvement	Tubulointerstitial nephritis, Lymphadenopathy, Hepatosplenomegaly, Gastrointestinal hemorrhage, D...	ORPHA:85450
Vascular Malformation, Primary Intraosseous	Elevated circulating alkaline phosphatase concentration, Gingival bleeding, Umbilical hernia, Hyp...	OMIM:606893
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypertrophic cardiomyopathy, Micrognathia, Cleft palate, Intrauterine growth retardation, Adducte...	OMIM:616897
Oculocerebral Hypopigmentation Syndrome, Preus Type	High palate, Short stature, Arachnodactyly, Hypochromic anemia, Reduced bone mineral density, Abn...	ORPHA:2720
Pancreatic Triacylglycerol Lipase Deficiency	Keratoconjunctivitis sicca, Growth delay, Rickets, Iron deficiency anemia, Abdominal distention, ...	ORPHA:309031
Peutz-Jeghers Syndrome	Rectal prolapse, Gastrointestinal carcinoma, Neoplasm of the pancreas, Uterine neoplasm, Breast c...	OMIM:175200
Poikiloderma With Neutropenia	Neutropenia, Elevated circulating creatine kinase concentration, Recurrent otitis media, Splenome...	OMIM:604173
Familial Adenomatous Polyposis	Neoplasm of the adrenal gland, Neoplasm of the gallbladder, Cholangiocarcinoma, Goiter, Adenomato...	ORPHA:733
Galactokinase Deficiency	Hepatomegaly, Neonatal asphyxia, Hypergalactosemia, Hypoglycemia, Small for gestational age, Fail...	ORPHA:79237
Citrullinemia Type Ii	Hypoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Hepatic fibrosis, Hyperli...	ORPHA:247585
Duodenal Neuroendocrine Tumor	Right ventricular failure, Tricuspid stenosis, Lymphadenopathy, Insulinoma, Melena, Intestinal ca...	ORPHA:100076
Immunodeficiency With Hyper-Igm, Type 3	Recurrent bacterial infections, Decreased circulating IgA level, Decreased circulating IgG level,...	OMIM:606843
Acrocapitofemoral Dysplasia	Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ...	OMIM:607778
Congenital Lethal Erythroderma	Respiratory insufficiency, Failure to thrive, Malabsorption, Hypoalbuminemia, Congenital exfoliat...	ORPHA:1954
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Hypochromic anemia, Anisocytosis, Poikilocytosis, Abnormal lactate dehydrogenase level, Cryptorch...	ORPHA:67044
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Splenomegaly, Uveitis, Restrictive ventilatory defect, Pancy...	OMIM:181000
Turner Syndrome Due To Structural X Chromosome Anomalies	Irregular proximal tibial epiphyses, Inflammation of the large intestine, Short 5th metacarpal, H...	ORPHA:99413
Mosaic Monosomy X	Irregular proximal tibial epiphyses, Inflammation of the large intestine, Short 5th metacarpal, H...	ORPHA:99228
Monosomy X	Irregular proximal tibial epiphyses, Inflammation of the large intestine, Short 5th metacarpal, H...	ORPHA:99226
Turner Syndrome	Irregular proximal tibial epiphyses, Inflammation of the large intestine, Short 5th metacarpal, H...	ORPHA:881
Mevalonic Aciduria	Short stature, Lymphadenopathy, Recurrent infections, Hepatosplenomegaly, Diarrhea, Elevated circ...	OMIM:610377
Schimke Immuno-Osseous Dysplasia	Decreased proportion of naive CD8 T cells, Abnormal intestine morphology, Neutropenia, Hyperlipid...	ORPHA:1830
Srd5A3-Cdg	Palmoplantar keratoderma, Microcytic anemia, Hypothyroidism, Elevated hepatic transaminase, Decre...	ORPHA:324737
Nephrotic Syndrome, Type 1	Pyloric stenosis, Hypoproteinemia, Neonatal respiratory distress, Growth delay, Hyperlipidemia, S...	OMIM:256300
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Hypochromia, Erythroid hyperplasia, Elevated hepatic iron concentration, Anemia, Sp...	OMIM:616860
Mitochondrial Dna Depletion Syndrome 18	Failure to thrive, Reduced forced vital capacity, Microcytic anemia, Tongue fasciculations	OMIM:618811
Lymphoproliferative Syndrome 2	Hepatomegaly, Ascites, Lymphadenopathy, Decreased circulating antibody level, EBV encephalitis, S...	OMIM:615122
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin	ORPHA:231249
Lymphoproliferative Syndrome 1	Stomatitis, Lymphadenopathy, Decreased circulating antibody level, Recurrent infections, Splenome...	OMIM:613011
Morgagni-Stewart-Morel Syndrome	Hypertension, Abnormality of the endocrine system, Osteoporosis, Acne, Hyperuricemia, Hypercholes...	ORPHA:77296
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Hepatomegaly, Abnormal B cell count, Lymphadenitis, Decreased circulating IgA level, Decreased ci...	ORPHA:331206
Neutropenia, Chronic Familial	Premature loss of teeth, Neutropenia, Clubbing, Periodontitis, Increased circulating antibody lev...	OMIM:162700
Protoporphyria, Erythropoietic, X-Linked	Iron deficiency anemia, Increased erythrocyte protoporphyrin concentration, Cholelithiasis, Eleva...	OMIM:300752
Congenital Amegakaryocytic Thrombocytopenia	Short stature, Anemia, Abnormal hemoglobin, Decreased skull ossification, Thrombocytopenia	ORPHA:3319
Felty Syndrome	Sinusitis, Sepsis, Neutropenia, Chronic otitis media, Lymphadenopathy, Recurrent infections, Sple...	ORPHA:47612
Laryngeal Neuroendocrine Tumor	Neuroendocrine neoplasm, Anorexia, Inappropriate antidiuretic hormone secretion, Increased serum ...	ORPHA:100083
Monocyte Chemotactic Disorder	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:252250
Leukocyte Adhesion Deficiency, Type Iii	Leukocytosis, Hepatomegaly, Anemia, Abnormality of the lymph nodes, Splenomegaly, Hepatosplenomeg...	OMIM:612840
Shwachman-Diamond Syndrome 1	Irregular ossification at anterior rib ends, Neonatal respiratory distress, Neutropenia, Short st...	OMIM:260400
Immunodeficiency 81	Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs...	OMIM:619374
Ige Responsiveness, Atopic	Increased circulating IgE level, Eczema, Allergic rhinitis, Asthma	OMIM:147050
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Growth delay, Hypocalcemic seizures, Decreased circulating IgA level, Osteopetrosis...	OMIM:612301
Ghosal Hematodiaphyseal Dysplasia	Abnormality of femur morphology, Diaphyseal thickening, Bowing of the long bones, Anemia, Abnorma...	ORPHA:1802
Adenocarcinoma Of The Anal Canal	Rectal prolapse, Neoplasm of the rectum, Neoplasm of the lung, Neoplasm of the liver, Chronic fat...	ORPHA:424016
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Hypocalcemic seizures, Rickets, Metaphyseal irregularity, Hypophosphatemia, Delayed eruption of t...	OMIM:264700
Roifman Syndrome	Eczema, Hip contracture, Short stature, Lymphadenopathy, Decreased circulating antibody level, Ep...	ORPHA:353298
Immunodeficiency 27B	Salmonella osteomyelitis, Recurrent mycobacterial infections, Osteomyelitis	OMIM:615978
Junctional Epidermolysis Bullosa Inversa	Gastrointestinal inflammation	ORPHA:79405
Ring Chromosome 10 Syndrome	Cachexia, Aganglionic megacolon, Micrognathia, Intrauterine growth retardation, Long philtrum, Ta...	ORPHA:1438
Mantle Cell Lymphoma	Anorexia, Lymphadenopathy, Weight loss, Splenomegaly, B-cell lymphoma, Abnormality of the gastroi...	ORPHA:52416
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Short stature, Insulin resistance, Splenomegaly, Hypercholesterolemia, Hepatic stea...	OMIM:612526
Smith-Lemli-Opitz Syndrome	Pyloric stenosis, Eczema, Cleft palate, 2-3 toe syndactyly, Short stature, Epiphyseal stippling, ...	OMIM:270400
Vitamin D-Dependent Rickets, Type 2A	Carious teeth, Hypocalcemic seizures, Rickets, Metaphyseal irregularity, Hypophosphatemia, Delaye...	OMIM:277440
Ivic Syndrome	Upper limb undergrowth, Triphalangeal thumb, Patent ductus arteriosus, Hypoplasia of the radius, ...	OMIM:147750
Isolated Anencephaly	Maternal diabetes, Thymus hyperplasia, Intrauterine growth retardation, Cleft lip, Adrenal hypopl...	ORPHA:563609
Hypothyroidism, Congenital, Nongoitrous, 8	Central hypothyroidism, Decreased circulating free T4 level, Inappropriately normal thyroid-stimu...	OMIM:301033
Indolent Systemic Mastocytosis	Hepatomegaly, Lymphadenopathy, Abnormal mast cell morphology, Splenomegaly, Skin rash, Maculopapu...	ORPHA:98848
Gitelman Syndrome	Prominent U wave, Syncope, Tubulointerstitial nephritis, ST segment depression, Raynaud phenomeno...	ORPHA:358
Wilson Disease	Hemolytic anemia, Hepatomegaly, Hypoparathyroidism, Dysphagia, Aminoaciduria, Esophageal varix, H...	OMIM:277900
Laron Syndrome	Micrognathia, Hypoglycemia, Microdontia, Abnormality of the endocrine system, Truncal obesity, De...	ORPHA:633
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Mastocytosis	ORPHA:66661
Hemochromatosis, Type 2A	Increased serum iron, Dilated cardiomyopathy, Hepatomegaly, Hypogonadotropic hypogonadism, Arthri...	OMIM:602390
Porphyria Cutanea Tarda	Increased serum iron, Increased fecal porphyrin, Elevated hepatic iron concentration, Hepatocellu...	ORPHA:101330
Isolated Agammaglobulinemia	Sinusitis, Sepsis, Short stature, Clinodactyly of the 5th toe, Recurrent respiratory infections, ...	ORPHA:229717

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