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 |
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Premature loss of teeth, Neutropenia, Clubbing, Periodontitis, Increased circulating antibody lev... |
OMIM:162700 |
Protoporphyria, Erythropoietic, X-Linked |
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Iron deficiency anemia, Increased erythrocyte protoporphyrin concentration, Cholelithiasis, Eleva... |
OMIM:300752 |
Congenital Amegakaryocytic Thrombocytopenia |
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Short stature, Anemia, Abnormal hemoglobin, Decreased skull ossification, Thrombocytopenia |
ORPHA:3319 |
Felty Syndrome |
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Sinusitis, Sepsis, Neutropenia, Chronic otitis media, Lymphadenopathy, Recurrent infections, Sple... |
ORPHA:47612 |
Laryngeal Neuroendocrine Tumor |
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Neuroendocrine neoplasm, Anorexia, Inappropriate antidiuretic hormone secretion, Increased serum ... |
ORPHA:100083 |
Monocyte Chemotactic Disorder |
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Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:252250 |
Leukocyte Adhesion Deficiency, Type Iii |
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Leukocytosis, Hepatomegaly, Anemia, Abnormality of the lymph nodes, Splenomegaly, Hepatosplenomeg... |
OMIM:612840 |
Shwachman-Diamond Syndrome 1 |
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Irregular ossification at anterior rib ends, Neonatal respiratory distress, Neutropenia, Short st... |
OMIM:260400 |
Immunodeficiency 81 |
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Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... |
OMIM:619374 |
Ige Responsiveness, Atopic |
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Increased circulating IgE level, Eczema, Allergic rhinitis, Asthma |
OMIM:147050 |
Osteopetrosis, Autosomal Recessive 7 |
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Hepatomegaly, Growth delay, Hypocalcemic seizures, Decreased circulating IgA level, Osteopetrosis... |
OMIM:612301 |
Ghosal Hematodiaphyseal Dysplasia |
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Abnormality of femur morphology, Diaphyseal thickening, Bowing of the long bones, Anemia, Abnorma... |
ORPHA:1802 |
Adenocarcinoma Of The Anal Canal |
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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 |
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Hypocalcemic seizures, Rickets, Metaphyseal irregularity, Hypophosphatemia, Delayed eruption of t... |
OMIM:264700 |
Roifman Syndrome |
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Eczema, Hip contracture, Short stature, Lymphadenopathy, Decreased circulating antibody level, Ep... |
ORPHA:353298 |
Immunodeficiency 27B |
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Salmonella osteomyelitis, Recurrent mycobacterial infections, Osteomyelitis |
OMIM:615978 |
Junctional Epidermolysis Bullosa Inversa |
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Gastrointestinal inflammation |
ORPHA:79405 |
Ring Chromosome 10 Syndrome |
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Cachexia, Aganglionic megacolon, Micrognathia, Intrauterine growth retardation, Long philtrum, Ta... |
ORPHA:1438 |
Mantle Cell Lymphoma |
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Anorexia, Lymphadenopathy, Weight loss, Splenomegaly, B-cell lymphoma, Abnormality of the gastroi... |
ORPHA:52416 |
Lipodystrophy, Congenital Generalized, Type 3 |
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Hepatomegaly, Short stature, Insulin resistance, Splenomegaly, Hypercholesterolemia, Hepatic stea... |
OMIM:612526 |
Smith-Lemli-Opitz Syndrome |
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Pyloric stenosis, Eczema, Cleft palate, 2-3 toe syndactyly, Short stature, Epiphyseal stippling, ... |
OMIM:270400 |
Vitamin D-Dependent Rickets, Type 2A |
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Carious teeth, Hypocalcemic seizures, Rickets, Metaphyseal irregularity, Hypophosphatemia, Delaye... |
OMIM:277440 |
Ivic Syndrome |
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Upper limb undergrowth, Triphalangeal thumb, Patent ductus arteriosus, Hypoplasia of the radius, ... |
OMIM:147750 |
Isolated Anencephaly |
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Maternal diabetes, Thymus hyperplasia, Intrauterine growth retardation, Cleft lip, Adrenal hypopl... |
ORPHA:563609 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
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Central hypothyroidism, Decreased circulating free T4 level, Inappropriately normal thyroid-stimu... |
OMIM:301033 |
Indolent Systemic Mastocytosis |
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Hepatomegaly, Lymphadenopathy, Abnormal mast cell morphology, Splenomegaly, Skin rash, Maculopapu... |
ORPHA:98848 |
Gitelman Syndrome |
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Prominent U wave, Syncope, Tubulointerstitial nephritis, ST segment depression, Raynaud phenomeno... |
ORPHA:358 |
Wilson Disease |
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Hemolytic anemia, Hepatomegaly, Hypoparathyroidism, Dysphagia, Aminoaciduria, Esophageal varix, H... |
OMIM:277900 |
Laron Syndrome |
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Micrognathia, Hypoglycemia, Microdontia, Abnormality of the endocrine system, Truncal obesity, De... |
ORPHA:633 |
Mast Cell Sarcoma |
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Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Mastocytosis |
ORPHA:66661 |
Hemochromatosis, Type 2A |
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Increased serum iron, Dilated cardiomyopathy, Hepatomegaly, Hypogonadotropic hypogonadism, Arthri... |
OMIM:602390 |
Porphyria Cutanea Tarda |
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Increased serum iron, Increased fecal porphyrin, Elevated hepatic iron concentration, Hepatocellu... |
ORPHA:101330 |
Isolated Agammaglobulinemia |
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Sinusitis, Sepsis, Short stature, Clinodactyly of the 5th toe, Recurrent respiratory infections, ... |
ORPHA:229717 |