Inflammatory Bowel Disease 29 |
|
Ulcerative colitis, Crohn's disease |
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 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... |
OMIM:616452 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Increased circulating IgE level, Recurrent otitis media, Hepatosplen... |
OMIM:618982 |
Immunodeficiency 105 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina... |
OMIM:619924 |
Inflammatory Bowel Disease 11 |
|
Hematochezia, Inflammation of the large intestine, Diarrhea, Weight loss, Abdominal pain |
OMIM:191390 |
Mannose-Binding Lectin Deficiency |
|
Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated cryptosporidium in... |
OMIM:614372 |
Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct... |
OMIM:266600 |
Diarrhea 6 |
|
Abdominal pain, Chronic diarrhea, Meteorism, Crohn's disease |
OMIM:614616 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium, Abdominal distention |
OMIM:616868 |
Immunodeficiency 112 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Chronic mucocutaneous candidi... |
OMIM:620449 |
Visceral Myopathy 2 |
|
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... |
OMIM:619350 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Hematochezia, Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis |
OMIM:613148 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Cholestasis, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... |
ORPHA:171 |
Ficolin 3 Deficiency |
|
Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Necroti... |
OMIM:613860 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, Pulmonary tuberculosis, BCGosis |
OMIM:300645 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Inflammation of the large intestine, Increased circulating IgE level, Recurrent otitis media, Hyp... |
ORPHA:98813 |
Immunodeficiency 115 With Autoinflammation |
|
Recurrent viral infections, Postnatal growth retardation, Superficial dermal perivascular inflamm... |
OMIM:620632 |
Refractory Celiac Disease |
|
Inflammatory abnormality of the skin, Microcytic anemia, Hypophosphatemia, Weight loss, Abdominal... |
ORPHA:398063 |
Immunodeficiency, Common Variable, 5 |
|
Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count |
OMIM:613495 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Colitis, Diarrhea |
OMIM:219095 |
Complement Component 7 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:610102 |
Immunodeficiency 51 |
|
Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Ecz... |
OMIM:613953 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hemophagocytosis, Hepatitis, ... |
OMIM:300635 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Ulcerative colitis, Bloody diarrhea |
OMIM:619398 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal... |
OMIM:619079 |
Combined Immunodeficiency, X-Linked |
|
Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-po... |
OMIM:312863 |
Immunodeficiency, Common Variable, 11 |
|
Decreased circulating IgG level, Inflammation of the large intestine, Failure to thrive, Mucoid d... |
OMIM:615767 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Enterocolitis, Constipatio... |
OMIM:142623 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Folliculitis, Pancolitis, Perianal abscess, Enterocutaneous fistula, Enterocolitis, Rectovaginal ... |
OMIM:612567 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, A... |
ORPHA:37042 |
Celiac Disease, Susceptibility To, 1 |
|
Diarrhea, Postnatal growth retardation, Weight loss, Abdominal distention, Abdominal pain, Celiac... |
OMIM:212750 |
Immunodeficiency 114, Folate-Responsive |
|
Decreased circulating IgG level, Atopic dermatitis, Carious teeth, Increased circulating ferritin... |
OMIM:620603 |
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 circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:615897 |
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes |
|
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections |
OMIM:242870 |
Immunodeficiency 15A |
|
Decreased proportion of memory B cells, Chronic mucocutaneous candidiasis, Cutaneous abscess, Acn... |
OMIM:618204 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Recurrent upper respiratory tract infections, Hemophagocytosis, Increased circulating ferritin co... |
OMIM:613101 |
Immunodeficiency 97 With Autoinflammation |
|
Diarrhea, Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosple... |
OMIM:619802 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Microcytic anemia, Elbow flexion contracture, Hepatosplenomegaly, Pancytopenia, Knee flexion cont... |
OMIM:604416 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Recurrent pneumonia, Mandibular prognathia, Microcytic anemia, Hepatosplenomegaly, Mitral regurgi... |
OMIM:619750 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... |
OMIM:615559 |
Immunodeficiency 18 |
|
Reduced natural killer cell count, Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Abno... |
OMIM:615615 |
Autoinflammation With Infantile Enterocolitis |
|
Hypoalbuminemia, Reduced natural killer cell count, Diffuse alveolar hemorrhage, Secretory diarrh... |
OMIM:616050 |
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections |
|
Atopic dermatitis, Gastroesophageal reflux, Recurrent viral infections, Increased circulating IgE... |
OMIM:620532 |
Solitary Rectal Ulcer Syndrome |
|
Hematochezia, Tenesmus, Stercoral ulcer, Anal fissure, Bloody diarrhea, Chronic constipation, Epi... |
ORPHA:209964 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis, Obesity |
ORPHA:88643 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Immunodeficiency 52 |
|
Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulat... |
OMIM:617514 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T... |
OMIM:615513 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Pneumonia, Recurrent mycobacterial infections, Recurrent Klebsiella infections, Abnormal circulat... |
ORPHA:319552 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Diarrhea, Intestinal obstruction, Abnormal intestine morphology, Hepatomegaly, Recurrent lower re... |
OMIM:226300 |
Immunodeficiency 35 |
|
Recurrent mycobacterial infections, Recurrent viral infections, Increased circulating IgE level, ... |
OMIM:611521 |
Immunodeficiency 48 |
|
Pneumonia, Eczematoid dermatitis, Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, ... |
OMIM:269840 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Immunodeficiency 104 |
|
Pneumonia, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Recurrent otitis media, Sple... |
OMIM:608971 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... |
ORPHA:70592 |
5-Oxoprolinase Deficiency |
|
Abdominal pain, Vomiting, Diarrhea, Enterocolitis |
OMIM:260005 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Decreased circulating iron concentration, Chronic tinea infection, Increased circulating IgE leve... |
OMIM:212050 |
Complement Component 8 Deficiency, Type Ii |
|
Meningitis, Recurrent Neisserial infections |
OMIM:613789 |
Alg12-Cdg |
|
Recurrent hypoglycemia, Overlapping fingers, Micrognathia, Abnormal circulating IgG level, Crypto... |
ORPHA:79324 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed epiphyseal ossification, Hypochromic anemia, Osteomalacia, Postnatal growth retardation, ... |
ORPHA:289157 |
Immunodeficiency, Common Variable, 3 |
|
Abnormal T cell count, Chronic decreased circulating total IgG, Recurrent otitis media, Decreased... |
OMIM:613493 |
Immunodeficiency 70 |
|
Verrucae, Decreased circulating total IgG, Chronic fatigue, Recurrent sinusitis, Colitis, Achalas... |
OMIM:618969 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Recurrent viral infections, Insulin-resistant diabetes mellitus, Microcytic anemia, Micrognathia,... |
ORPHA:2959 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Decreased circulating IgG level, Atopic dermatitis, Recurrent upper respiratory tract infections,... |
OMIM:618944 |
Immunodeficiency 61 |
|
Recurrent otitis media, Decreased circulating IgG2 level, Recurrent sinusitis, Decreased circulat... |
OMIM:300310 |
Pgm3-Cdg |
|
Allergic rhinitis, Abnormal CD4:CD8 ratio, Recurrent viral infections, Increased circulating IgE ... |
ORPHA:443811 |
Glycoprotein Storage Disease |
|
Gout, Splenomegaly |
OMIM:232900 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Recurrent infection of the gast... |
OMIM:605258 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hemophagocytosis, Erythroderma, Neutropenia, Hepatomegaly, Jaundice, Reduced natural killer cell ... |
ORPHA:540 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Juvenile Polyposis Syndrome |
|
Hypoalbuminemia, Hematochezia, Diarrhea, Intussusception, Failure to thrive, Duodenal adenocarcin... |
OMIM:174900 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Allergic rhinitis, Recurrent viral infections, Increased circulating IgE level, Recurrent otitis ... |
OMIM:243700 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections, Recurrent viral infections, Severe viral infection, BCGitis |
OMIM:616126 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Microcytic anemia, Hypo... |
OMIM:619013 |
Gastroesophageal Reflux |
|
Barrett esophagus, Gastroesophageal reflux, Esophagitis, Esophageal neoplasm |
OMIM:109350 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Neutropenia, Recurrent ph... |
OMIM:308240 |
Dominant Beta-Thalassemia |
|
Diarrhea, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopi... |
ORPHA:231226 |
Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... |
OMIM:614700 |
Hereditary Mixed Polyposis Syndrome |
|
Hematochezia, Colon cancer, Adenomatous colonic polyposis, Thyroid carcinoma, Duodenal adenocarci... |
ORPHA:157794 |
Immunodeficiency 69 |
|
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Pancytopenia,... |
OMIM:618963 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism |
OMIM:183350 |
Immunodeficiency 27A |
|
Pneumonia, Hypoalbuminemia, Diarrhea, Enlarged mesenteric lymph node, Anorexia, Hepatosplenomegal... |
OMIM:209950 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Osteopenia, Vomiting, Toe syndactyly, Elbow flexion contracture, Clinodactyly of the 5th finger, ... |
OMIM:616809 |
Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Follicular hyperplasia, Decreased proportion of class-switched memory B cells... |
OMIM:619126 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating IgG level, Recurrent pneumonia, Recurrent sinusitis, Complete or near-compl... |
OMIM:613494 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections |
OMIM:616022 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Nephritis, Malar rash, Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Spleno... |
OMIM:603909 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Joint contracture of the hand, Hip dislocation, Keratitis, Eczematoid dermatitis, Increased circu... |
OMIM:618523 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Anal stenosis, Intestinal bleeding, Neoplasm of the liver, Neoplasm of the rectum, Anal canal squ... |
ORPHA:424019 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated gamma-glutamyltransferase level, Inflammation of the large intestine, Cholestasis, Pancy... |
OMIM:614576 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Pneumonia, Atopic dermatitis, Verrucae, Recurrent viral infections, Recurrent respiratory infecti... |
ORPHA:217390 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Osteopenia, Erlenmeyer flask deformity of the femurs, Hypocholesterolemia, Hypersplenism, Splenom... |
OMIM:610539 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Increased circulating IgE level, Erythroderma, Glomerulonephritis, Neutropenia, Autoimmune thromb... |
OMIM:304790 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the colon, Stomach cancer, Intestinal obstruction, Neoplasm of the rectum, Abdominal ... |
ORPHA:2869 |
Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:310350 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent viral infections, Decreased lymphocyte proliferation in response to anti-CD3, Increased... |
OMIM:606367 |
Immunodeficiency 31A |
|
BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim... |
OMIM:614892 |
Mhc Class Ii Deficiency 1 |
|
Cutaneous anergy, Recurrent upper respiratory tract infections, Recurrent viral infections, Chron... |
OMIM:209920 |
Beta-Thalassemia |
|
Cholelithiasis, Hepatitis, Microcytic anemia, Hypertrophic cardiomyopathy, Splenomegaly, Abnormal... |
ORPHA:848 |
Immunodeficiency 76 |
|
Recurrent pneumonia, Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Colitis, T ly... |
OMIM:619164 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Inflammation of the large intestine, Diarrhea, Psoriasiform dermatitis, Hepatomegaly, Recurrent l... |
ORPHA:436159 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Diarrhea, Cholestasis, Hepatic steatosis, Polycystic ovaries, Increased body weight, Cirrhosis, H... |
ORPHA:264580 |
Neuroendocrine Neoplasm Of Appendix |
|
Protracted diarrhea, Nausea and vomiting, Abnormal bowel sounds, Anorexia, Appendiceal mucinous n... |
ORPHA:100079 |
Niemann-Pick Disease, Type A |
|
Vomiting, Failure to thrive, Sea-blue histiocytosis, Microcytic anemia, Elevated circulating aspa... |
OMIM:257200 |
Autoimmune Lymphoproliferative Syndrome |
|
Neoplasm of the skin, Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased prop... |
ORPHA:3261 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Abnormality of humoral immunity, Diarrhea, Inflammatory abnormality of the skin, Recurrent pneumo... |
ORPHA:277 |
Pseudomyxoma Peritonei |
|
Inflammation of the large intestine, Nausea and vomiting, Intestinal obstruction, Constipation, W... |
ORPHA:26790 |
Beta-Thalassemia Major |
|
Diarrhea, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopi... |
ORPHA:231214 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Disseminated mollu... |
OMIM:617638 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hypoplastic scapulae, Increased circulating interleukin 8 concentration, Finger swelling, Microcy... |
OMIM:256040 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis |
OMIM:613796 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... |
OMIM:619632 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Agammaglobulinemia,... |
OMIM:613500 |
Immunodeficiency 82 With Systemic Inflammation |
|
Diarrhea, Decreased circulating total IgG, Anoperineal fistula, Pustular rash, Osteomalacia, Recu... |
OMIM:619381 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Portal fibrosis, Failure to thrive, In... |
OMIM:619868 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Mismatch Repair Cancer Syndrome 1 |
|
Basal cell carcinoma, T-cell lymphoma, Leukemia, Lymphoma, Oligodendroglioma, Ependymoma, Medullo... |
OMIM:276300 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hypoalbuminemia, Dilated cardiomyopathy, Microcytic anemia, Failure to thrive in infancy, Hepatic... |
OMIM:618805 |
Immunodeficiency 116 |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent viral infections, Bro... |
OMIM:608957 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Hypochromic anemia, Failure to thrive, Increased circulating ferritin concentration, Microcytic a... |
OMIM:600462 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating IgE level, Recurrent otitis media, Micrognathia, Sterile abscess, High pala... |
OMIM:618282 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hepatitis, Recurrent otitis media, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lympha... |
ORPHA:444463 |
Juvenile Polyposis Of Infancy |
|
Hypoalbuminemia, High, narrow palate, Intestinal bleeding, Diarrhea, Gastrointestinal hemorrhage,... |
ORPHA:79076 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Protein-losing enteropathy, Recurrent pneumonia, Decreased circulating IgG level, Recurrent otiti... |
OMIM:613502 |
Immunodeficiency 23 |
|
Allergic rhinitis, Increased circulating IgE level, Lymphopenia, Molluscum contagiosum, Abscess, ... |
OMIM:615816 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pneumonia, Reduce... |
OMIM:619281 |
Lead Poisoning |
|
Abnormality of humoral immunity, Imbalanced hemoglobin synthesis, Increased circulating IgE level... |
ORPHA:330015 |
Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Lymphopenia, Weight loss, Abdominal pain, Hypoproteinemia, Opportunistic inf... |
ORPHA:90362 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Recurrent viral infections, Increased circulating IgE level, Lymphopenia, Hepatosplenomegaly, Dec... |
ORPHA:169154 |
Shwachman-Diamond Syndrome |
|
Recurrent viral infections, Aplastic anemia, Carious teeth, Hypopituitarism, Pancytopenia, Increa... |
ORPHA:811 |
Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Colon cancer, Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis |
ORPHA:401911 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Vasculitis, Inflammation of the large intestine, Craniofacial osteosclerosis, Abnormal epiphysis ... |
ORPHA:324964 |
Pelvic Organ Prolapse, Susceptibility To |
|
Rectal prolapse, Bowel incontinence |
OMIM:176780 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly, Hyperlipoproteinemia |
OMIM:118830 |
Aspergillosis |
|
Pneumonia, Unusual CNS infection, Keratitis, Hepatitis, Increased circulating IgE level, Osteomye... |
ORPHA:1163 |
Acquired Idiopathic Sideroblastic Anemia |
|
Hypochromic anemia, Pancytopenia, Chronic infection, Anemia of inadequate production, Acute myelo... |
ORPHA:75564 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, Recurrent otitis media, B lymphocytopenia |
OMIM:616941 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Skin rash, Hepatomegaly, Splenomegaly, Hypertriglyceridemia |
OMIM:619175 |
Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Minimal change glomerulonephritis, Recurrent viral infections, Increased circulating IgE level, I... |
OMIM:620565 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Small for gestational age, Eczematoid dermatitis, Increased circulating IgE level, Decreased prop... |
OMIM:617241 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Diarrhea, Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Recurrent bacterial i... |
OMIM:613501 |
Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Recurrent... |
OMIM:607594 |
Lysinuric Protein Intolerance |
|
Abnormality of humoral immunity, Diarrhea, Hemophagocytosis, Hepatosplenomegaly, Increased LDL ch... |
ORPHA:470 |
Immunodeficiency 37 |
|
Colitis, Recurrent infections, Decreased circulating antibody level, Infectious encephalitis |
OMIM:616098 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Diarrhea, Recurrent hypoglycemia, Postnatal growth retardation, Polycystic ovaries, Increased bod... |
ORPHA:79240 |
Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Acute leukemia, Inflammation of the large intestine, Microcytic a... |
ORPHA:906 |
Primary Biliary Cholangitis |
|
Elevated gamma-glutamyltransferase level, Xanthelasma, Elevated circulating alkaline phosphatase ... |
ORPHA:186 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Early satiety, Diarrhea, Increased circulating IgE level, Eosinophilic infiltration of the esopha... |
OMIM:147060 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, Atopic dermatitis, T lymphocytopenia, Pneum... |
OMIM:618806 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Decreased specific pneumococcal antibody level, Minimal change glomerulonephritis, Impaired lymph... |
OMIM:617006 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Pancytopenia, Splenomegaly, Follicular hyperplasia, Increased circulating antibody level, Hepatom... |
OMIM:614470 |
Sickle Cell Anemia |
|
Hypochromic anemia, Persistence of hemoglobin F, Microcytic anemia, Abnormality of the spleen, Fi... |
ORPHA:232 |
Immunodeficiency 32B |
|
Pneumonia, Hypoalbuminemia, Failure to thrive, Recurrent respiratory infections, BCGitis, Impaire... |
OMIM:226990 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hypoalbuminemia, Protein-losing enteropathy, Diarrhea, Vomiting, Failure to thrive, Decreased liv... |
OMIM:608104 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Hepatos... |
OMIM:618534 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level, Retinal telangiectasia |
OMIM:267900 |
Esophagitis, Eosinophilic, 2 |
|
Vomiting, Esophagitis, Dysphagia, Failure to thrive |
OMIM:613412 |
Esophagitis, Eosinophilic, 1 |
|
Vomiting, Esophagitis, Dysphagia, Failure to thrive |
OMIM:610247 |
Leishmaniasis |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Pancytopenia, Leukopeni... |
ORPHA:507 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Conjunctivitis, Increased circulating ferritin concentration, Splenomegaly, Ski... |
OMIM:603552 |
H Syndrome |
|
Microcytic anemia, Hepatosplenomegaly, Psoriasiform dermatitis, Pes planus, Recurrent pharyngitis... |
ORPHA:168569 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Recurrent bacterial infections,... |
OMIM:608106 |
Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia |
OMIM:613978 |
Autoimmune Lymphoproliferative Syndrome |
|
Vasculitis, Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Autoimmune h... |
OMIM:601859 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci |
OMIM:233670 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating IgG level, Recurrent pneumonia, Diarrhea, Recurrent otitis media, Decreased... |
OMIM:612692 |
Immunodeficiency 57 With Autoinflammation |
|
Inflammation of the large intestine, Diarrhea, Partial absence of specific antibody response to t... |
OMIM:618108 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cervical l... |
OMIM:618987 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Inflammation of the large intestine, Diarrhea, Periodontitis, Carious teeth, Xanthelasma, Hepatic... |
ORPHA:79259 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Decreased circulating IgG level, Reduced natural killer cell count, Recurrent pneumonia, Atopic d... |
OMIM:619752 |
Immunodeficiency 109 With Lymphoproliferation |
|
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Pancytopenia, Co... |
OMIM:620282 |
Histiocytosis, Familial Lipochrome |
|
Recurrent infections, Histiocytosis, Increased alpha-globulin, Increased circulating antibody level |
OMIM:235900 |
Macrophage Activation Syndrome |
|
Hemophagocytosis, Elevated circulating alanine aminotransferase concentration, Neutropenia, Hepat... |
ORPHA:158061 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Diarrhea, Cachexia, Weight loss, Cirrhosis, Abdominal distention, Abdominal pain, Macrovesicular ... |
ORPHA:298 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Ileal atresia, Colonic atresia, Lymphopenia, Psoriasiform dermatitis, Intestinal obstruction, Rec... |
OMIM:243150 |
Igg4-Related Aortitis |
|
Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat... |
ORPHA:449400 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Diarrhea, Inflammatory abnormality of the skin, Lymphopenia, Hepatosplenomegaly, Abnormal circula... |
ORPHA:391487 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Diarrhea, Hepatic steatosis, Feeding difficulties in infancy, Hepatomegaly, Osteopenia, Villous a... |
OMIM:212065 |
Attenuated Familial Adenomatous Polyposis |
|
Thyroid adenoma, Duodenal polyposis, Astrocytoma, Large intestinal polyposis, Papilloma, Fibroma,... |
ORPHA:220460 |
Wolcott-Rallison Syndrome |
|
Acute hepatic failure, Hyperbilirubinemia, Decreased body weight, Neutropenia, Metaphyseal dyspla... |
ORPHA:1667 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hyperglycemia, Arrhythmia, Elevated jugular venous pressure, Cirrhosis, Weight loss, Hepatomegaly... |
ORPHA:465508 |
Cholesteryl Ester Storage Disease |
|
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Diarrhea, Acute hepatic fail... |
OMIM:278000 |
Ménétrier Disease |
|
Hypoalbuminemia, Gastrointestinal hemorrhage, Gastroesophageal reflux, Diarrhea, Vomiting, Malnut... |
ORPHA:2494 |
Complement Factor B Deficiency |
|
Pneumonia, Recurrent meningococcal disease, Peritonitis, Recurrent bacterial infections, Meningitis |
OMIM:615561 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Atopic dermatitis, Increased circulating IgE level, Hypereosinophilia, Leukocytosis, Abnormality ... |
ORPHA:2902 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Persistent CMV viremia, Fluctuating splenomegaly, Recurrent otitis media, Facial papilloma, Autoi... |
OMIM:619220 |
Selective Igm Deficiency |
|
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-positive T ce... |
ORPHA:331235 |
Beta-Thalassemia Intermedia |
|
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, High-output conges... |
ORPHA:231222 |
Hyperbilirubinemia, Shunt, Primary |
|
Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Anemia of inadequate production, Reticul... |
OMIM:237800 |
Trimethylaminuria |
|
Anemia, Recurrent pneumonia, Splenomegaly, Neutropenia |
OMIM:602079 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Aminoaciduria, Gastroesophageal reflux, Failure to thrive, Microcytic anemia, Elevated circulatin... |
OMIM:612073 |
Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Basal cell carcinoma, Pancreatic adenocarcinoma, Stomach cancer, Prostate cancer, Pain, Esophagea... |
ORPHA:79501 |
Immunodeficiency 62 |
|
Decreased circulating IgG level, Decreased proportion of memory B cells, Complete or near-complet... |
OMIM:618459 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegaly, Abscess... |
OMIM:150550 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent viral infections, Lymphadenitis, Abnormal lymph node morphology, Decreased proportion o... |
ORPHA:911 |
Immunodeficiency 87 And Autoimmunity |
|
Elevated gamma-glutamyltransferase level, Recurrent viral infections, Cholestasis, Lymphopenia, D... |
OMIM:619573 |
Immunodeficiency 58 |
|
Allergic rhinitis, Molluscum contagiosum, Esophagitis, Dysphagia, Recurrent cutaneous abscess for... |
OMIM:618131 |
Eosinophilic Gastroenteritis |
|
Allergic rhinitis, Protein-losing enteropathy, Hematochezia, Diarrhea, Vomiting, Atopic dermatiti... |
ORPHA:2070 |
Hepatoportal Sclerosis |
|
Hypersplenism, Hyperbilirubinemia, Jaundice, Esophageal varix, Gastrointestinal hemorrhage, Intra... |
ORPHA:64743 |
Sepsis In Premature Infants |
|
Diarrhea, Decreased body weight, Neutropenia, Abdominal distention, Hepatomegaly, Elevated circul... |
ORPHA:90051 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Diarrhea, Vomiting, Bloody diarrhea, Acute colitis, Elevated circulating creatinine concentration... |
ORPHA:90038 |
Polymerase Proofreading-Related Adenomatous Polyposis |
|
Endometrial carcinoma, Neoplasm of the rectum, Brain neoplasm, Adenomatous colonic polyposis, Ade... |
ORPHA:447877 |
Epidermolysis Bullosa Acquisita |
|
Abdominal pain, Inflammation of the large intestine |
ORPHA:46487 |
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency |
|
Osteopenia, Eczematoid dermatitis, Lymphoma, Recurrent respiratory infections, Increased circulat... |
ORPHA:2314 |
Diamond-Blackfan Anemia |
|
Macrocytic dyserythropoietic anemia, Persistence of hemoglobin F, Cleft soft palate, Micrognathia... |
ORPHA:124 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Diarrhea, Inflammatory abnormality of the skin, Recurrent viral infections, Increased circulating... |
OMIM:102700 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Absent... |
OMIM:619846 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Hep... |
OMIM:615285 |
Mutyh-Related Attenuated Familial Adenomatous Polyposis |
|
Large intestinal polyposis, Adenomatous colonic polyposis, Adenocarcinoma of the colon, Colorecta... |
ORPHA:247798 |
Insulin-Resistance Syndrome Type B |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... |
ORPHA:2298 |
Leukocyte Adhesion Deficiency Type Ii |
|
Microcytic anemia, Recurrent otitis media, Overlapping toe, Protruding tongue, Neutrophilia, Hepa... |
ORPHA:99843 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
Mu-Heavy Chain Disease |
|
Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Lymphade... |
ORPHA:100024 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating IgG level, Decreased proportion of memory B cells, Bronchiectasis, Decrease... |
OMIM:618394 |
Alg6-Cdg |
|
Hypoalbuminemia, Protein-losing enteropathy, Increased circulating androgen concentration, Failur... |
ORPHA:79320 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent mycobacterial infections, Decreased circulating IgG level, Recurrent viral infections, ... |
ORPHA:275 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Decreased proportion of memory B cells, Recurrent viral infections, Clinodactyly, Failure to thri... |
OMIM:618048 |
Mucopolysaccharidosis-Plus Syndrome |
|
Neutropenia, Hepatomegaly, Macrovesicular hepatic steatosis, Clubbing, Patent ductus arteriosus, ... |
OMIM:617303 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Recurrent aphthous stomatitis, Leukocytosis, Splenomegaly, Skin rash, Lymphadenopathy, Arthritis,... |
OMIM:611762 |
Secondary Intestinal Lymphangiectasia |
|
Intestinal bleeding, Lymphopenia, Intestinal obstruction, Cirrhosis, Celiac disease, Gastrointest... |
ORPHA:90363 |
Severe Combined Immunodeficiency, X-Linked |
|
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Failure to thrive, Decreased cir... |
OMIM:300400 |
Radiation Proctitis |
|
Hematochezia, Diarrhea, Arteritis, Tenesmus, Abnormal rectum morphology, Intestinal obstruction, ... |
ORPHA:70475 |
Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Giant cell hepatitis, Hepatic failure, Diarrhea, Rickets, Intrahepatic cholestasis, Elevated circ... |
OMIM:607765 |
Cronkhite-Canada Syndrome |
|
Gastrointestinal carcinoma, Diarrhea, Furrowed tongue, Stomach cancer, Intestinal polyposis, Sple... |
ORPHA:2930 |
Immunodeficiency 19 |
|
Recurrent otitis media, Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer ce... |
OMIM:615617 |
Cog4-Cdg |
|
Recurrent upper respiratory tract infections, Elevated circulating hepatic transaminase concentra... |
ORPHA:263501 |
Erythroleukemia, Familial, Susceptibility To |
|
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... |
OMIM:133180 |
Autoimmune Hepatitis |
|
Inflammation of the large intestine, Gastrointestinal hemorrhage, Spider hemangioma, Increased to... |
ORPHA:2137 |
Majeed Syndrome |
|
Metaphyseal irregularity, Inflammatory abnormality of the skin, Failure to thrive, Osteomyelitis,... |
ORPHA:77297 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hemophagocytosis, Colon cancer, Pancytopenia, Hepatosplenomegaly, Hyperbilirubinemia, Hodgkin lym... |
ORPHA:158057 |
Blue Rubber Bleb Nevus |
|
Intestinal bleeding, Volvulus, Microcytic anemia, Gastrointestinal infarctions, Skin rash, Viscer... |
ORPHA:1059 |
Netherton Syndrome |
|
Allergic rhinitis, Decreased circulating IgG level, Sepsis, Eczematoid dermatitis, Failure to thr... |
OMIM:256500 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... |
OMIM:603902 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of a... |
ORPHA:231154 |
Majeed Syndrome |
|
Inflammatory abnormality of the skin, Failure to thrive, Microcytic anemia, Osteomyelitis, Hepato... |
OMIM:609628 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Decreased circulating carnitine concentration, Abnormal circulating selenium concentration, Cario... |
ORPHA:89842 |
Atransferrinemia |
|
Abnormality of the liver, Hypochromic anemia, Atransferrinemia, Congestive heart failure |
OMIM:209300 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Enlarged metaphyses, Abnormal ilium morphology, Postaxial foot polydactyly, Broad phalanges of th... |
ORPHA:508533 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Diarrhea, Lymphopenia, Lymph node hypoplasia, Decreased proportion of CD4-positive helper T cells... |
ORPHA:276 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Hepatomegaly, Reduced natural killer cell act... |
OMIM:603553 |
Sweet Syndrome |
|
Inflammation of the large intestine, Predominantly dermal neutrophilic infiltrate, Chronic lympha... |
ORPHA:3243 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:619824 |
Temple Syndrome |
|
Small hand, Clinodactyly, Recurrent otitis media, Micrognathia, Cryptorchidism, High palate, Shor... |
OMIM:616222 |
Wiskott-Aldrich Syndrome |
|
Inflammation of the large intestine, Diarrhea, Increased circulating IgE level, Abnormal delayed ... |
OMIM:301000 |
Urban-Rogers-Meyer Syndrome |
|
Toe syndactyly, Abnormal epiphysis morphology, Abnormal diaphysis morphology, Camptodactyly of fi... |
ORPHA:3409 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis, Membranoproliferative... |
OMIM:613779 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Eczematoid dermatitis, Increased circulating IgE level, Postnatal growth retardation, Decreased s... |
OMIM:618985 |
Autoinflammatory Disease, Systemic, With Vasculitis |
|
Elevated gamma-glutamyltransferase level, Diarrhea, Cholestasis, Hepatosplenomegaly, Abnormal cir... |
OMIM:620376 |
Ganglioneuroma |
|
Gastrointestinal hemorrhage, Abnormal rectum morphology, Ganglioneuroma, Hypertension, Episodic a... |
ORPHA:251992 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased proportion of memory B cells, Atopic dermatitis, Decreased specific anti-polysaccharide... |
ORPHA:70593 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Inflammation of the large intestine, Lymphadenitis, Cholestasis, Erythroderma, Hepatomegaly, Abdo... |
OMIM:615895 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Recurrent pneumonia, Vomiting, Increased circulating lactate dehydrogenase concentration, Eczemat... |
OMIM:617780 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Small hand, Clinodactyly, Recurrent otitis media, Postnatal growth retardation, Micrognathia, Cry... |
ORPHA:96184 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Precocious puberty, Small hand, Maturity-onset diabetes of the young, Clinodactyly, Recurrent oti... |
ORPHA:254531 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Decreased proportion of memory B cells, Reduced natural killer cell count, Inflammation of the la... |
OMIM:301074 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... |
OMIM:616828 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Hypochromic anemia, Anoperineal fistula, Failure to thrive, Increased circulating IgE level, Leuk... |
OMIM:618213 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Hyperbilirubinemia, Reticulocytosis, Intermittent jaundice |
OMIM:179700 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Decreased CD4:CD8 ... |
OMIM:300853 |
Immunodeficiency 102 |
|
Decreased proportion of CD4-positive helper T cells, Hepatomegaly, Recurrent skin infections, Aut... |
OMIM:301082 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Diarrhea, Gastroesophageal reflux, Nasogastric tube feeding, Joint hypermobility, Decreased body ... |
OMIM:607906 |
Glycogen Storage Disease Ib |
|
Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Hyp... |
OMIM:232220 |
Autoimmune Disease, Multisystem, Infantile-Onset, 3 |
|
Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ... |
OMIM:620430 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Short toe, Failure to thrive, Microcytic anemia, Retrognathia, Micrognathia, Cryp... |
ORPHA:98791 |
Secondary Short Bowel Syndrome |
|
Vomiting, Diarrhea, Volvulus, Failure to thrive, Malnutrition, Malabsorption, Villous atrophy, Ab... |
ORPHA:95427 |
Shigellosis |
|
Microangiopathic hemolytic anemia, Cholestasis, Abscess, Anorexia, Abdominal pain, Abnormal blood... |
ORPHA:810 |
Immunodeficiency 25 |
|
Recurrent pneumonia, Protracted diarrhea, Increased circulating IgE level, Recurrent candida infe... |
OMIM:610163 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Elevated gamma-glutamyltransferase level, Diarrhea, Cholestasis, Hepatosplenomegaly, Hyperbilirub... |
ORPHA:247598 |
Abetalipoproteinemia |
|
Hyperbilirubinemia, Acanthocytosis, Hepatic steatosis, Talipes equinovarus, Cirrhosis, Hepatomega... |
ORPHA:14 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Protein-losing enteropathy, Diarrhea, Vomiting, Abdominal colic, Failure to thri... |
OMIM:615863 |
Immunodeficiency 95 |
|
Decreased circulating IgG3 level, Recurrent viral pneumonia, Lymphopenia, Recurrent viral upper r... |
OMIM:619773 |
Glycogen Storage Disease Vi |
|
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Failure to thrive in infan... |
OMIM:232700 |
Immunodeficiency 13 |
|
Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Decreased CD4:CD8 ratio, Decreased prop... |
OMIM:615518 |
Proteus-Like Syndrome |
|
Genu recurvatum, Thymus hyperplasia, Abnormality of the parathyroid gland, Subcutaneous lipoma, L... |
ORPHA:2969 |
Late-Onset Isolated Acth Deficiency |
|
Diarrhea, Nausea and vomiting, Weight loss, Anorexia, Hypoparathyroidism, Abdominal pain, Celiac ... |
ORPHA:199299 |
Gaucher Disease Type 1 |
|
Decreased HDL cholesterol concentration, Hypersplenism, Hepatosplenomegaly, Pancytopenia, Increas... |
ORPHA:77259 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Cholestasis, Slender build, Pancytopenia, Hepatic steatosis, Cirrhosis, Unconjugated hyperbilirub... |
OMIM:613658 |
Immunodeficiency 47 |
|
Hepatic bridging fibrosis, Decreased circulating total IgG, Chronic decreased circulating total I... |
OMIM:300972 |
Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgG level, Recurrent pneumonia, Diarrhea, Conjunctivitis, Recurrent otitis ... |
OMIM:240500 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatosplenomegaly, Chilblains, Hepatic steatosis, Weight loss, Hepatomegaly, Hypothyroidism, Ane... |
OMIM:619487 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating IgG level, Recurrent urinary tract infections, Lymphopenia, Leukopenia, Joi... |
OMIM:620210 |
Wolman Disease |
|
Hepatic failure, Malnutrition, Adrenal calcification, Adrenal insufficiency, Nausea and vomiting,... |
ORPHA:75233 |
Activated Pi3K-Delta Syndrome |
|
Pneumonia, Recurrent tonsillitis, Severe varicella zoster infection, Failure to thrive, Lymphoma,... |
ORPHA:397596 |
Trichohepatoenteric Syndrome 2 |
|
Diarrhea, Small for gestational age, Failure to thrive, Villous atrophy, Chronic hepatitis, Colit... |
OMIM:614602 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Pustular rash, Recurrent respiratory infections, Failure to thrive, Lymphopenia, Leukopenia, Mala... |
OMIM:615934 |
Autosomal Dominant Spastic Paraplegia Type 29 |
|
Impaired vibratory sensation, Abnormal rectum morphology, Hyperbilirubinemia, Hiatus hernia, Impa... |
ORPHA:101009 |
Papa Syndrome |
|
Crohn's disease, Increased inflammatory response, Myositis, Increased circulating antibody level,... |
ORPHA:69126 |
Whipple Disease |
|
Diarrhea, Cachexia, Anorexia, Hepatomegaly, Abdominal pain, Pedal edema, Gastrointestinal hemorrh... |
ORPHA:3452 |
Syndromic Diarrhea |
|
Lymphopenia, Colitis, Hepatoblastoma, Cirrhosis, Hepatomegaly, Patent ductus arteriosus, Aortic r... |
ORPHA:84064 |
Immunodeficiency 40 |
|
Focal active colitis, Recurrent pneumonia, Severe varicella zoster infection, Eosinophilic granul... |
OMIM:616433 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Elevated circulating hepatic transaminase concentration, Eczematoid dermatitis, Failure to thrive... |
OMIM:612379 |
Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Ch... |
OMIM:614868 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... |
OMIM:616278 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:231393 |
Immunoerythromyeloid Hypoplasia |
|
Erythroid hypoplasia, Decreased circulating IgG level, Lymphoproliferative disorder, Absent leuko... |
OMIM:242880 |
Alg1-Cdg |
|
Hypoalbuminemia, Protein-losing enteropathy, Sepsis, Limitation of joint mobility, Decreased live... |
ORPHA:79327 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Diarrhea, Enteroviral encephalitis, Increased circulating IgA level, Cirrhosis, Neutropenia, Hepa... |
OMIM:308230 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Bifid uvula, Broad thumb, Broad hallux, Insulin-resistant diabetes mellitus, Microcytic anemia, D... |
ORPHA:293967 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced natural killer c... |
OMIM:619510 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Allergic rhinitis, Osteopenia, Carious teeth, Failure to thrive, Malnutrition, Exocrine pancreati... |
OMIM:612714 |
Immunodeficiency 16 |
|
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly |
OMIM:615593 |
Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Salmonella osteomyelitis, Recurrent mycobacterium avium compl... |
OMIM:615978 |
Hjv Or Hamp-Related Hemochromatosis |
|
Abnormality of iron homeostasis, Dilated cardiomyopathy, Elevated circulating hepatic transaminas... |
ORPHA:79230 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Diarrhea, Lymphopenia, Psoriasiform dermatitis, Hepatomegaly, Recurrent lower respiratory tract i... |
OMIM:616100 |
Amoebiasis Due To Entamoeba Histolytica |
|
Hypoalbuminemia, Diarrhea, Elevated circulating hepatic transaminase concentration, Protracted di... |
ORPHA:67 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Type I diabetes mellitus, Diarrhea, Malnutrition, Hypocholesterolemia, Postnatal growth retardati... |
ORPHA:96180 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hypoalbuminemia, Failure to thrive, Hypocholesterolemia, Villous atrophy, Splenomegaly, Hepatomeg... |
OMIM:608776 |
Bacterial Toxic-Shock Syndrome |
|
Diarrhea, Abscess, Glomerulonephritis, Abdominal pain, Tachycardia, Recurrent skin infections, Me... |
ORPHA:36234 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly, Abdominal ... |
OMIM:618852 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Panhypogammaglobulinemia, Otitis media, Purulent rhinitis, Arthritis, B lymphocytopeni... |
OMIM:601457 |
Sea-Blue Histiocyte Disease |
|
Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
OMIM:269600 |
Caspase 8 Deficiency |
|
Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Decreased circulating IgA leve... |
OMIM:607271 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoalbuminemia, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentratio... |
OMIM:267700 |
Wilson Disease |
|
Hypouricemia, Osteomalacia, Acute hepatic failure, Hyperbilirubinemia, Hepatic steatosis, Cirrhos... |
OMIM:277900 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Protein-losing enteropathy, Hematochezia, Gastrointestinal carcinoma, Xerostomia, Diarrhea, Vomit... |
OMIM:175500 |
Immunodeficiency, Common Variable, 6 |
|
Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... |
OMIM:613496 |
Autosomal Erythropoietic Protoporphyria |
|
Cholelithiasis, Eczematoid dermatitis, Decreased liver function, Microcytic anemia, Abnormal circ... |
ORPHA:79278 |
Immunodeficiency 33 |
|
Pneumocystis jirovecii pneumonia, Disseminated nontuberculous mycobacterial infection, Increased ... |
OMIM:300636 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia |
OMIM:206400 |
Trichohepatoenteric Syndrome 1 |
|
Cholestasis, Large placenta, Cirrhosis, Hepatomegaly, Jaundice, Aortic regurgitation, Avascular n... |
OMIM:222470 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Abnormally low T cell receptor excision circle level, Pneumonia, Recurrent upper respiratory trac... |
OMIM:602450 |
Congenital Generalized Lipodystrophy |
|
Insulin resistance, Mandibular prognathia, Precocious puberty in females, Failure to thrive, Cong... |
ORPHA:528 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Hypoalbuminemia, Protein-losing enteropathy, Erysipelas, Intestinal lymphangiectasia, Mild postna... |
OMIM:235510 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu... |
ORPHA:766 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated gamma-glutamyltransferase level, Microcytic anemia, Ankyloglossia, Recurrent otitis medi... |
OMIM:619525 |
X-Linked Agammaglobulinemia |
|
Weight loss, Neutropenia, Meningitis, Recurrent cutaneous abscess formation, Chronic otitis media... |
ORPHA:47 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Increased LDL cholesterol concentration, Hypertriglyceridemia, Splenomega... |
OMIM:607616 |
Idiopathic Hypereosinophilic Syndrome |
|
Inflammatory abnormality of the skin, Swelling of proximal interphalangeal joints, Hepatosplenome... |
ORPHA:3260 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Carious teeth, Abnormal circulating selenium concentration, Anal fissure, Ankyloglossia, Glomerul... |
ORPHA:79408 |
Osteopetrosis, Autosomal Recessive 5 |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Hyperbilirubinemia, Micrognathia,... |
OMIM:259720 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Bronchiolitis, Decreased circulating IgA level, Interstitial pneumonitis, Enterocolitis, Arthralg... |
OMIM:614878 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Hematochezia, Inflammation of the large intestine, Recurrent pneumonia, Vasculitis, Failure to th... |
OMIM:617718 |
Cholesteryl Ester Storage Disease |
|
Hepatic failure, Diarrhea, Adrenal calcification, Nausea and vomiting, Splenomegaly, Cirrhosis, H... |
ORPHA:75234 |
Immunodeficiency 67 |
|
Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... |
OMIM:607676 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Allergic rhinitis, Atopic dermatitis, Gastroesophageal reflux, Vomiting, Eosinophilic microabsces... |
ORPHA:411696 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short tibia, Cryptorchidism, Talipes equinovarus, Patent ductus arteriosus, Hypocalcemia, Decreas... |
OMIM:607143 |
Lysosomal Acid Lipase Deficiency |
|
Diarrhea, Adrenal calcification, Hepatosplenomegaly, Hypersplenism, Nausea and vomiting, Xanthela... |
ORPHA:275761 |
Hemochromatosis, Type 4 |
|
Cardiomyopathy, Increased circulating ferritin concentration, Glucose intolerance, Hepatic steato... |
OMIM:606069 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Recurren... |
OMIM:619707 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Perioral eczema, Diarrhea, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent sinusiti... |
OMIM:613960 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia, M... |
ORPHA:231401 |
Hemochromatosis, Type 1 |
|
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... |
OMIM:235200 |
Isolated Sedoheptulokinase Deficiency |
|
Cholestatic liver disease, Postprandial hyperglycemia, Hepatitis, Cholestasis, Portal hypertensio... |
ORPHA:440713 |
Igg4-Related Kidney Disease |
|
Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Increased circulating IgE level, ... |
ORPHA:449395 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly |
OMIM:607685 |
Whim Syndrome 1 |
|
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Recurrent bacteria... |
OMIM:193670 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Vomiting, Diarrhea, Elevated circulating hepatic transaminase concentration, Decreased liver func... |
ORPHA:42 |
Refractory Anemia With Excess Blasts |
|
Abnormal mean corpuscular volume, Bone marrow hypocellularity, Chronic infection, Palpitations, L... |
ORPHA:86839 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Persistent CMV viremia, Diarrhea, Failure to thrive, Recurrent urinary tract infections, Recurren... |
OMIM:618495 |
Degcags Syndrome |
|
Toe syndactyly, Oral-pharyngeal dysphagia, Cholestasis, Hepatosplenomegaly, Pancytopenia, Hyperbi... |
OMIM:619488 |
Immunodeficiency 10 |
|
Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Hypoglycemia, Recurrent urinary tra... |
OMIM:612783 |
Graft Versus Host Disease |
|
Diarrhea, Inflammatory abnormality of the skin, Hemophagocytosis, Hepatosplenomegaly, Hyperbiliru... |
ORPHA:39812 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Diarrhea, Chronic lymphatic leukemia, Acute myeloid leukemia, Hematological neoplasm, Weight loss... |
ORPHA:98849 |
Solitary Fibrous Tumor |
|
Uterine neoplasm, Genital neoplasm, Hypoglycemia, Recurrent hypoglycemia, Vaginal neoplasm, Neopl... |
ORPHA:2126 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Failure to thrive, Laryngeal papilloma, Hypereosinophilia, Autoimmune hemolytic anemia, Splenomeg... |
OMIM:617388 |
Dietary Iron Overload Disease |
|
Hepatic bridging fibrosis, Increased circulating cortisol level, Chronic infection, Hepatic steat... |
ORPHA:139507 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Lymphopenia, Skin rash, Ileal ulcer, Thrombocytopenia, Colitis, Hemolytic anemia, Anterior uveitis |
OMIM:616744 |
Aggressive Systemic Mastocytosis |
|
Diarrhea, Hypersplenism, Hepatosplenomegaly, Pancytopenia, Elevated circulating alkaline phosphat... |
ORPHA:98850 |
Marburg Hemorrhagic Fever |
|
Neutrophilia in presence of infection, Diarrhea, Lymphopenia, Increased circulating antibody leve... |
ORPHA:99826 |
Hemochromatosis, Type 3 |
|
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... |
OMIM:604250 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Hypohomocysteinemia, Growth delay, Failure to thrive, Hypocystinemia, Decreased circulating IgA l... |
OMIM:617744 |
Restrictive Dermopathy 2 |
|
Gastroesophageal reflux, Rectal prolapse, Feeding difficulties |
OMIM:619793 |
Rothmund-Thomson Syndrome Type 1 |
|
Neoplasm of the skin, Diarrhea, Aplastic anemia, Carious teeth, Cryptorchidism, Patellar aplasia,... |
ORPHA:221008 |
Rothmund-Thomson Syndrome Type 2 |
|
Neoplasm of the skin, Diarrhea, Aplastic anemia, Carious teeth, Cryptorchidism, Patellar aplasia,... |
ORPHA:221016 |
Al Amyloidosis |
|
Xerostomia, Postural hypotension with compensatory tachycardia, Elevated circulating alkaline pho... |
ORPHA:85443 |
Thymoma |
|
Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Ulcerative colitis, Neopl... |
ORPHA:99867 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Celiac ... |
ORPHA:183675 |
Alpha-Heavy Chain Disease |
|
Lymphoma, Abnormal small intestine morphology, Malabsorption, Splenomegaly, Hypocalcemia, Dysgamm... |
ORPHA:100025 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ... |
OMIM:616829 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypoalbuminemia, Hypernatremia, Palmoplantar keratoderma, Failure to thrive, Increased circulatin... |
OMIM:615508 |
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2 |
|
Enterocolitis |
OMIM:620425 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Sideroblastic anemia, Hypochromia, Anemia, Elevated... |
OMIM:205950 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Decreased circulating IgG level, Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, ... |
OMIM:301078 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Hypoalbuminemia, Sepsis, Palmoplantar keratoderma, Smooth tongue, Failure to thrive, Squamous cel... |
ORPHA:79396 |
Schnitzler Syndrome |
|
Vasculitis, Lymphoma, Leukocytosis, Splenomegaly, Skin rash, Hepatomegaly, Lymphadenopathy, Arthr... |
ORPHA:37748 |
Plummer-Vinson Syndrome |
|
Decreased circulating ferritin concentration, Iron deficiency anemia, Esophageal web, Dysphagia, ... |
ORPHA:54028 |
Felty Syndrome |
|
Rheumatoid arthritis, Splenomegaly, Neutropenia |
OMIM:134750 |
Hamamy Syndrome |
|
Hypochromic anemia, Microcytic anemia, Micrognathia, Mitral regurgitation, Cryptorchidism, Hypopa... |
OMIM:611174 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Rickets, Osteomalacia, Hypocalcemia, Elevated circulating alkaline phosphatase concentration, Too... |
ORPHA:89937 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... |
OMIM:619375 |
Kimura Disease |
|
Increased circulating IgE level, Follicular hyperplasia, Eosinophilia, Lymphadenopathy, Abnormal ... |
ORPHA:482 |
Chylomicron Retention Disease |
|
Hypoalbuminemia, Vomiting, Diarrhea, Hypotriglyceridemia, Failure to thrive, Malnutrition, Hypoch... |
OMIM:246700 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Pulmonary embolism, Lower limb asymmetry, Congestive heart failure, ... |
ORPHA:90308 |
Dubowitz Syndrome |
|
Carious teeth, Aplastic anemia, Velopharyngeal insufficiency, Postnatal growth retardation, Micro... |
OMIM:223370 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Extramedullary hematopoiesis, Cholestasis, Postnatal growth retardation, Hy... |
ORPHA:79303 |
Pyoderma Gangrenosum |
|
Inflammation of the large intestine, Rheumatoid arthritis, Myalgia, Increased circulating antibod... |
ORPHA:48104 |
Blue Rubber Bleb Nevus |
|
Intestinal bleeding, Volvulus, Rectal prolapse, Intussusception |
OMIM:112200 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent upper respiratory tract infections, Osteomyelitis, Recurrent infection of the gastroint... |
OMIM:608184 |
Mpi-Cdg |
|
Hypoalbuminemia, Protein-losing enteropathy, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Hep... |
ORPHA:79319 |
Morbid Obesity And Spermatogenic Failure |
|
Insulin resistance, Congestive heart failure, Decreased HDL cholesterol concentration, Increased ... |
OMIM:615703 |
Immunodeficiency 42 |
|
Recurrent aphthous stomatitis, Splenomegaly, Hypoplasia of the thymus, Recurrent cutaneous fungal... |
OMIM:616622 |
Analbuminemia |
|
Hypoalbuminemia, Hypotension, Elevated circulating transferrin concentration, Increased LDL chole... |
OMIM:616000 |
Protoporphyria, Erythropoietic, 2 |
|
Iron deficiency anemia, Increased erythrocyte protoporphyrin concentration |
OMIM:618015 |
Multiple Myeloma |
|
Osteopenia, Pathologic fracture, Functional abnormality of the gastrointestinal tract, Elevated c... |
ORPHA:29073 |
Neuroendocrine Tumor Of Stomach |
|
Increased serum serotonin, Protracted diarrhea, Nausea and vomiting, Weight loss, Anorexia, Hepat... |
ORPHA:100075 |
Immunodeficiency 92 |
|
Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta... |
OMIM:619652 |
Linear Iga Dermatosis |
|
Inflammation of the large intestine |
ORPHA:46488 |
3-Methylglutaconic Aciduria, Type V |
|
Dilated cardiomyopathy, Failure to thrive, Congestive heart failure, Normochromic microcytic anem... |
OMIM:610198 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent viral infections, Diarrhea, Chronic mucocutaneous candidiasis, Recurrent protozoan infe... |
ORPHA:572 |
Peroxisome Biogenesis Disorder 3B |
|
Failure to thrive, Hypocholesterolemia, Elevated circulating phytanic acid concentration, Malar f... |
OMIM:266510 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Microcytic anemia, Pes cavus, Elevated circulating creatine kinase concentration, Hypothyroidism,... |
OMIM:251900 |
Immunodeficiency 43 |
|
Hypoalbuminemia, Decreased circulating IgG level, Reduced natural killer cell count, Decreased sp... |
OMIM:241600 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Recurrent ... |
OMIM:618986 |
Cyclic Neutropenia |
|
Sepsis, Periodontitis, Recurrent tonsillitis, Opportunistic infection, Cervical lymphadenopathy, ... |
ORPHA:2686 |
Acute Monoblastic/Monocytic Leukemia |
|
Hypochromic anemia, Ankle swelling, Acute monocytic leukemia, Central hypothyroidism, Increased c... |
ORPHA:514 |
Avian Influenza |
|
Pneumonia, Hypoalbuminemia, Myelitis, Diarrhea, Vomiting, Hepatitis, Elevated circulating hepatic... |
ORPHA:454836 |
Acatalasemia |
|
Type I diabetes mellitus, Neoplasm of the larynx, Microcytic anemia, Type II diabetes mellitus, R... |
ORPHA:926 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Recurrent pneumonia, Vomiting, Secretory diarrhea, Failure to thrive, Increased circulating IgE l... |
OMIM:616069 |
Rothmund-Thomson Syndrome |
|
Neoplasm of the skin, Diarrhea, Aplastic anemia, Carious teeth, Aplasia/Hypoplasia of the patella... |
ORPHA:2909 |
Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... |
ORPHA:521 |
Potocki-Lupski Syndrome |
|
Gastroesophageal reflux, Dental malocclusion, Failure to thrive, Oral-pharyngeal dysphagia, Hypoc... |
OMIM:610883 |
Smith-Lemli-Opitz Syndrome |
|
Postaxial foot polydactyly, Recurrent otitis media, Talipes calcaneovalgus, Overlapping toe, Faci... |
OMIM:270400 |
Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl... |
ORPHA:2585 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Diarrhea, Meningitis, Chronic otitis media, Opportunistic infection, Eczematoid dermatitis, Recur... |
ORPHA:83471 |
Nephrotic Syndrome, Type 7 |
|
Hypoalbuminemia, Membranoproliferative glomerulonephritis, Hemolytic anemia, Thrombocytopenia |
OMIM:615008 |
Somatostatinoma |
|
Diarrhea, Increased circulating cortisol level, Increased circulating prolactin concentration, Na... |
ORPHA:97283 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Eczematoid dermatitis, Neutropenia |
OMIM:300299 |
Aredyld Syndrome |
|
Craniofacial hyperostosis, Type I diabetes mellitus, Abnormal pelvic girdle bone morphology, Mand... |
ORPHA:1133 |
Generalized Pustular Psoriasis |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Sepsis, Congestive hear... |
ORPHA:247353 |
Immunodeficiency, Common Variable, 13 |
|
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections, Decrease... |
OMIM:616873 |
X-Linked Sideroblastic Anemia |
|
Elevated circulating hepatic transaminase concentration, Glucose intolerance, Splenomegaly, Anemi... |
ORPHA:75563 |
Lymphoproliferative Syndrome 1 |
|
Decreased circulating IgG level, Hemophagocytosis, Increased circulating ferritin concentration, ... |
OMIM:613011 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, T lymphocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Decreased circulatin... |
ORPHA:169079 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hypoalbuminemia, Protein-losing enteropathy, Hepatic failure, Diarrhea, Vomiting, Hepatic fibrosi... |
OMIM:602579 |
Zygomycosis |
|
Diarrhea, Ileitis, Pustule, Hematological neoplasm, Acute infectious pneumonia, Neutropenia, Abdo... |
ORPHA:73263 |
Autoinflammatory-Pancytopenia Syndrome |
|
Cholestatic liver disease, Hepatic fibrosis, Type I diabetes mellitus, Granuloma, Hemophagocytosi... |
OMIM:619858 |
Anemia, Sideroblastic, 4 |
|
Sideroblastic anemia, Abnormal erythrocyte morphology, Refractory anemia with ringed sideroblasts |
OMIM:182170 |
Proteus Syndrome |
|
Rib exostoses, Carious teeth, Finger syndactyly, Exostosis of the external auditory canal, Cachex... |
ORPHA:744 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Acute pancreatitis, Recurrent pneumonia, Recurrent tonsillitis, Lymphadenitis, Eczematoid dermati... |
OMIM:618935 |
Desmoplastic Small Round Cell Tumor |
|
Mediastinal lymphadenopathy, Ileus, Nausea and vomiting, Hepatomegaly, Cachexia, Weight loss, Lym... |
ORPHA:83469 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Bone marrow hypocellularity, Postnatal growth retardation, Intrauterine growth retardation, Colit... |
OMIM:615190 |
Infection-Related Hemolytic Uremic Syndrome |
|
Diarrhea, Abdominal pain, Meningitis, Hyperkalemia, Intestinal perforation, Abnormal circulating ... |
ORPHA:544482 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Recurrent bacterial infections,... |
OMIM:606843 |
Primary Myelofibrosis |
|
Increased circulating lactate dehydrogenase concentration, Extramedullary hematopoiesis, Anorexia... |
ORPHA:824 |
Congenital Enterovirus Infection |
|
Hypoalbuminemia, Hepatic failure, Hypotension, Sepsis, Hepatitis, Cardiomyopathy, Cholestasis, Le... |
ORPHA:292 |
Brucellosis |
|
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Weight loss, Glomerulonephri... |
ORPHA:1304 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Obesity, Hypercholesterolemia, Hypertension, Myocardial infarction, Diabetes mellitus |
OMIM:608320 |
Diarrhea 13 |
|
Hypoalbuminemia, Vomiting, Secretory diarrhea, Elevated circulating hepatic transaminase concentr... |
OMIM:620357 |
Immunodeficiency 68 |
|
Lymphadenitis, Recurrent skin infections, Abscess, B lymphocytopenia, Septic arthritis, Abnormal ... |
OMIM:612260 |
Renpenning Syndrome |
|
High, narrow palate, Severe short stature, Mandibular prognathia, Growth delay, Decreased testicu... |
ORPHA:3242 |
Fibular Hemimelia |
|
Toe syndactyly, Limitation of joint mobility, Short tibia, Limited knee flexion/extension, Finger... |
ORPHA:93323 |
Multicentric Reticulohistiocytosis |
|
Cachexia, Histiocytosis, Arthritis |
ORPHA:139436 |
Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro... |
OMIM:616005 |
Hemochromatosis, Type 2B |
|
Hepatic fibrosis, Increased circulating iron concentration, Elevated circulating hepatic transami... |
OMIM:613313 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hypoalbuminemia, Hepatic failure, Dilated cardiomyopathy, Elevated circulating hepatic transamina... |
ORPHA:367 |
Spherocytosis, Type 5 |
|
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... |
OMIM:612690 |
Addison Disease |
|
Diarrhea, Adrenal calcification, Nausea and vomiting, Weight loss, Anorexia, Hypoparathyroidism, ... |
ORPHA:85138 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Abdominal distention, Failure to thrive, Osteomyelitis, Hepatomegaly, Elevated circulating C-reac... |
OMIM:619423 |
Postinfectious Vasculitis |
|
Abnormality of humoral immunity, Inflammatory abnormality of the skin, Increased circulating anti... |
ORPHA:48435 |
Mccune-Albright Syndrome |
|
Increased circulating cortisol level, Increased circulating prolactin concentration, Osteomalacia... |
ORPHA:562 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Intestinal pseudo-obstruction, Malnutrition, Slender build, Malabsorption, Gastrointestinal dysmo... |
OMIM:613662 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hepatosplenomegaly, Mitral regurgitation, Tachycardia, Patent ductus arteriosus, Hypertrophic car... |
ORPHA:505248 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Small hand, Hypotriglyceridemia, Sandal gap, Iron deficiency anemia, Pineal cyst, Constipation, D... |
OMIM:618885 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent Haemophilus influenzae infections, Recurrent bronchitis, Chronic sinusitis, Otitis media |
OMIM:300455 |
Peutz-Jeghers Syndrome |
|
Intestinal bleeding, Gastrointestinal carcinoma, Uterine neoplasm, Bloody diarrhea, Neoplasm of t... |
OMIM:175200 |
Boutonneuse Fever |
|
Vasculitis, Diarrhea, Elevated circulating hepatic transaminase concentration, Abnormality of the... |
ORPHA:83313 |
Cystic Fibrosis |
|
Recurrent pneumonia, Diarrhea, Bronchiectasis, Exocrine pancreatic insufficiency, Ileus, Rectal p... |
OMIM:219700 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hyperinsulinemia, Hepatic steatosis, Hepatomegaly, Tachycardia, Dysphagia, Osteopenia, Hypertrigl... |
OMIM:613327 |
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Pilomatrixoma, Embryonal rhabdomyosarcoma, Cervix cancer, Adenocarcinoma of the colon, Lipoma, Mu... |
OMIM:620189 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Growth delay, Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyper... |
OMIM:620211 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... |
OMIM:620058 |
Immunodeficiency 21 |
|
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Osteomyelitis, Anemia, Neutropen... |
OMIM:614172 |
Mevalonic Aciduria |
|
Diarrhea, Morbilliform rash, Hepatosplenomegaly, Fluctuating hepatomegaly, Elevated circulating C... |
OMIM:610377 |
Vascular Malformation, Primary Intraosseous |
|
Hypochromic anemia, Ectopic tooth eruption, Elevated circulating alkaline phosphatase concentrati... |
OMIM:606893 |
Mody |
|
Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Pancreatic hypoplasi... |
ORPHA:552 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hypoalbuminemia, Increased mean corpuscular volume, Second degree atrioventricular block, Extrame... |
OMIM:617021 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Diarrhea, Abnormal lymph node morphology, Hepatosplenomegaly, Intestinal obstruction, Weight loss... |
ORPHA:85450 |
Familial Adenomatous Polyposis |
|
Stomach cancer, Hepatoblastoma, Brain neoplasm, Osteoma, Desmoid tumors, Angiofibromas, Neoplasm ... |
ORPHA:733 |
Barth Syndrome |
|
Mandibular prognathia, Dilated cardiomyopathy, Recurrent infections in infancy and early childhoo... |
OMIM:302060 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Diarrhea, Rickets, Osteomalacia, Exocrine pancreatic insufficiency, Abdominal pain, Iron deficien... |
ORPHA:309031 |
Citrullinemia Type Ii |
|
Hypoalbuminemia, Hepatic fibrosis, Vomiting, Diarrhea, Elevated circulating hepatic transaminase ... |
ORPHA:247585 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Decreased circulating IgG level, Panuveitis, Osteomyelitis, Hepatosplenomegaly, Panniculitis, Com... |
OMIM:301081 |
Morgagni-Stewart-Morel Syndrome |
|
Acne, Obesity, Abnormality of the thyroid gland, Hyperuricemia, Hypothyroidism, Hypercholesterole... |
ORPHA:77296 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Hypochromic anemia, Abnormal circulating lactate dehydrogenase concentration, Cryptorchidism, Ane... |
ORPHA:67044 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Hyper... |
OMIM:618398 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing, Genu valgum, Corner fracture ... |
ORPHA:93315 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Short distal phalanx of finger, Dental malocclusion, Increased circulating IgE level, Hypoplastic... |
ORPHA:1858 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypoalbuminemia, Hypermethioninemia, Failure to thrive, Cardiomyopathy, Increased circulating cre... |
OMIM:613752 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Fractured radius, Flared metaphysis, Hypertrophic cardiomyopathy, Decreased fibular d... |
OMIM:616897 |
Porphyria Cutanea Tarda |
|
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... |
ORPHA:101330 |
Alpha-Thalassemia |
|
Cholelithiasis, Extramedullary hematopoiesis, Congestive heart failure, Microcytic anemia, Hemogl... |
ORPHA:846 |
Complement Component 5 Deficiency |
|
Intractable diarrhea, Recurrent Neisserial infections, Recurrent meningococcal disease, Generaliz... |
OMIM:609536 |
Chylomicron Retention Disease |
|
Diarrhea, Vomiting, Elevated circulating hepatic transaminase concentration, Failure to thrive, G... |
ORPHA:71 |
Focal Segmental Glomerulosclerosis 1 |
|
Anemia, Hyperlipidemia, Hypertension, Hypoalbuminemia |
OMIM:603278 |
Immunodeficiency 31C |
|
Diarrhea, Decreased lymphocyte proliferation in response to anti-CD3, Lymphopenia, Weight loss, H... |
OMIM:614162 |
Srd5A3-Cdg |
|
Elevated circulating hepatic transaminase concentration, Palmoplantar keratoderma, Microcytic ane... |
ORPHA:324737 |
Agammaglobulinemia, X-Linked |
|
Enteroviral dermatomyositis syndrome, Recurrent otitis media, Lymph node hypoplasia, Prostatitis,... |
OMIM:300755 |
Ileal Neuroendocrine Tumor |
|
Increased serum serotonin, Arrhythmia, Weight loss, Abnormal bowel sounds, Functional intestinal ... |
ORPHA:100078 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration |
ORPHA:231249 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Splenome... |
OMIM:616860 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Abnormal hemoglobin, Decreased skull ossification, Thrombocytopenia, Anemia, Short stature |
ORPHA:3319 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:252250 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Hypochromic anemia, Abnormal hip bone morphology, Arachnodactyly, High palate, Short stature, Abn... |
ORPHA:2720 |
Preeclampsia |
|
Elevated systolic blood pressure, Abnormality of the hepatic vasculature, Elevated circulating he... |
ORPHA:275555 |
Idiopathic Achalasia |
|
Gastroesophageal reflux, Malnutrition, Decreased circulating prealbumin concentration, Weight los... |
ORPHA:930 |
Hemochromatosis, Neonatal |
|
Hepatic fibrosis, Hepatic failure, Increased circulating iron concentration, Hypoglycemia, Hepato... |
OMIM:231100 |
Schwartz-Jampel Syndrome |
|
Micrognathia, Genu valgum, Hip contracture, Decreased body weight, Bowing of the long bones, Tali... |
ORPHA:800 |
Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal tibia morphology, Abn... |
ORPHA:1802 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Decreased circulating IgG level, Recurrent pneumonia, Decrea... |
OMIM:612301 |
Diamond-Blackfan Anemia 13 |
|
Normocytic anemia, Elevated red cell adenosine deaminase activity |
OMIM:615909 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Gastroesophageal reflux, Decreased circulating carnitine concentration, Hypertrophic cardiomyopat... |
OMIM:201475 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Central hypothyroidism, Decreased circulating free T4 concentration, Constipation, Hypercholester... |
OMIM:301033 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed epiphyseal ossification, Fibular bowing, Elevated circulating alkaline phosphatase concen... |
OMIM:264700 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Pneumonia, Diarrhea, Recurrent enteroviral infections, Septic arthritis, Conjunctivitis, Enterovi... |
OMIM:307200 |
Protoporphyria, Erythropoietic, X-Linked |
|
Cholelithiasis, Iron deficiency anemia, Elevated circulating hepatic transaminase concentration, ... |
OMIM:300752 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Insulin resistance, Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hypocalcemia, Hyperchole... |
OMIM:612526 |
Igg4-Related Ophthalmic Disease |
|
Increased circulating IgE level, Abnormality of the sphenoid sinus, Prostatitis, Abnormality of t... |
ORPHA:449563 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Abnormal T cell count, Lymphadenitis, Lymphopenia, Decreased cir... |
ORPHA:331206 |
Schimke Immuno-Osseous Dysplasia |
|
Minimal change glomerulonephritis, Shallow acetabular fossae, Lymphopenia, Abnormal lymphocyte ph... |
ORPHA:1830 |
Junctional Epidermolysis Bullosa Inversa |
|
Gastrointestinal inflammation |
ORPHA:79405 |
Adult Idiopathic Neutropenia |
|
Recurrent aphthous stomatitis, Helicobacter pylori infection, Recurrent fungal infections, Recurr... |
ORPHA:2688 |
Galactokinase Deficiency |
|
Small for gestational age, Failure to thrive, Hypoglycemia, Reduced circulating complement concen... |
ORPHA:79237 |
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia |
|
Microcytic anemia, Hypochromic anemia, Feeding difficulties |
OMIM:618451 |
Aceruloplasminemia |
|
Decreased circulating iron concentration, Abnormal pancreas morphology, Increased circulating fer... |
ORPHA:48818 |
Mantle Cell Lymphoma |
|
Splenomegaly, B-cell lymphoma, Abnormality of the gastrointestinal tract, Weight loss, Lymphadeno... |
ORPHA:52416 |
Lymphoproliferative Syndrome 2 |
|
Recurrent pneumonia, Aplastic anemia, Hemophagocytosis, Ascites, Pancytopenia, Hepatosplenomegaly... |
OMIM:615122 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Cholecystit... |
OMIM:235700 |
Immunodeficiency 81 |
|
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... |
OMIM:619374 |
Vitamin D-Dependent Rickets, Type 2A |
|
Delayed epiphyseal ossification, Carious teeth, Fibular bowing, Elevated circulating alkaline pho... |
OMIM:277440 |
Bloom Syndrome |
|
Neoplasm of the skin, Neoplasm of the colon, Stomach cancer, Micrognathia, Abscess, Severe toxopl... |
ORPHA:125 |
Ogden Syndrome |
|
Diarrhea, Recurrent otitis media, Torsade de pointes, Postnatal growth retardation, Hyperbilirubi... |
OMIM:300855 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Blepharitis, Failure to thrive, Bloody diarrhea, Increased circulating IgE level, Villous atrophy... |
OMIM:614328 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Inflammation of the large intestine, Increased HDL cholesterol concentration, Right ventricular f... |
ORPHA:70591 |
Reticular Dysgenesis |
|
Diarrhea, Sepsis, Aplasia/Hypoplasia of the thymus, Recurrent respiratory infections, Failure to ... |
ORPHA:33355 |
Methylcobalamin Deficiency Type Cble |
|
Vomiting, Increased mean corpuscular volume, Clinodactyly, Failure to thrive, Postnatal growth re... |
ORPHA:2169 |
Galloway-Mowat Syndrome 6 |
|
Hypoalbuminemia, Decreased response to growth hormone stimulation test, Intrauterine growth retar... |
OMIM:618347 |
Neutropenia, Chronic Familial |
|
Periodontitis, Increased circulating antibody level, Neutropenia, Clubbing, Clubbing of fingers |
OMIM:162700 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Homocystinuria, Gastroesophageal reflux, Failure to thrive, Elevated circulating propionylcarniti... |
OMIM:614857 |
Thrombotic Thrombocytopenic Purpura |
|
Diarrhea, Microangiopathic hemolytic anemia, Abnormal circulating lactate dehydrogenase concentra... |
ORPHA:54057 |
Neonatal Hemochromatosis |
|
Increased circulating iron concentration, Hypoglycemia, Increased circulating ferritin concentrat... |
ORPHA:446 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Decreased circulating antibody level, Intraalveolar phospholipid accumulation, Splenomegaly, Leuk... |
OMIM:618042 |
Smith-Magenis Syndrome |
|
Toe syndactyly, Micrognathia, Delayed eruption of primary teeth, Feeding difficulties in infancy,... |
ORPHA:819 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Type I diabetes mellitus, Palmoplantar keratoderma, Abnormal circulating lipid concentration, Joi... |
ORPHA:1979 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Osteopenia, Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentr... |
ORPHA:369 |
Christianson Syndrome |
|
Mandibular prognathia, Gastroesophageal reflux, Joint hypermobility, Feeding difficulties in infa... |
ORPHA:85278 |
Distal Myopathy, Tateyama Type |
|
Calf muscle hypoplasia, Abnormal circulating creatine kinase concentration, Palpitations, Pes cav... |
ORPHA:488650 |
Gaisböck Syndrome |
|
Increased red blood cell count, Peptic ulcer, Increased mean corpuscular hemoglobin concentration... |
ORPHA:90041 |
Oculocerebrorenal Syndrome Of Lowe |
|
Neoplasm of the skin, Carious teeth, Periodontitis, Osteomalacia, Micrognathia, Genu valgum, Cryp... |
ORPHA:534 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Depletion of mitochondrial DNA in liver, Hyperbilirubinemia, Hepatic steatosis, Feeding difficult... |
OMIM:251880 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatic failure, Vomiting, Elevated circulating thyroid-stimulating hormone concentration, Hypogl... |
OMIM:617872 |
Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Fractured rib, Gastroesophageal reflux, Hyperparathyroidism, Metaphyseal spurs, Umbil... |
OMIM:618188 |
Sitosterolemia 1 |
|
Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Increased circulating lactate dehyd... |
OMIM:210250 |
Felty Syndrome |
|
Limitation of joint mobility, Synovitis, Weight loss, Neutropenia, Recurrent pharyngitis, Hepatom... |
ORPHA:47612 |
Intrinsic Factor Deficiency |
|
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... |
OMIM:261000 |
Hemochromatosis, Type 2A |
|
Increased circulating iron concentration, Dilated cardiomyopathy, Cardiomyopathy, Increased circu... |
OMIM:602390 |
Ivic Syndrome |
|
Carpal synostosis, Limited elbow movement, Radioulnar synostosis, Carpal bone hypoplasia, Limited... |
OMIM:147750 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Atopic dermatitis, Failure to thrive, Colonic eosinophilia, Membranous nephropathy, Eosinophilic ... |
OMIM:618999 |
Dermatitis Herpetiformis |
|
Dental enamel pits, Eczematoid dermatitis, Delayed eruption of teeth, Microcytic anemia, Malabsor... |
ORPHA:1656 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level, Abnormality of the liver, Absence of lymph node germinal center |
OMIM:235550 |
Ring Chromosome 10 Syndrome |
|
Sandal gap, Intrauterine growth retardation, Micrognathia, Hypocalcemia, Aganglionic megacolon, C... |
ORPHA:1438 |
Gitelman Syndrome |
|
Diarrhea, Nausea and vomiting, Type II diabetes mellitus, Parathyroid adenoma, Tubulointerstitial... |
ORPHA:358 |
Indolent Systemic Mastocytosis |
|
Mastocytosis, Increased proportion of CD25+ mast cells, Skin rash, Splenomegaly, Lymphadenopathy,... |
ORPHA:98848 |
Erythrocytosis, Familial, 8 |
|
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... |
OMIM:222800 |
Von Willebrand Disease |
|
Epistaxis, Gastrointestinal hemorrhage, Deviation of finger, Microcytic anemia, Gastrointestinal ... |
ORPHA:903 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... |
OMIM:612840 |
Isolated Anencephaly |
|
Intrauterine growth retardation, Adrenal hypoplasia, Thymus hyperplasia, Maternal diabetes |
ORPHA:563609 |
Aicardi-Goutieres Syndrome 6 |
|
Chilblains, Splenomegaly, Increased circulating Interferon-alpha concentration, Thrombocytopenia,... |
OMIM:615010 |
Laryngeal Neuroendocrine Tumor |
|
Increased serum serotonin, Neuroendocrine neoplasm, Oral-pharyngeal dysphagia, Neoplasm of the la... |
ORPHA:100083 |
Adenocarcinoma Of The Anal Canal |
|
Anal stenosis, Intestinal bleeding, Chronic fatigue, Neoplasm of the skeletal system, Neoplasm of... |
ORPHA:424016 |
Omenn Syndrome |
|
Pneumonia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Erythroderma, Hepatomega... |
OMIM:603554 |
Nephrotic Syndrome, Type 1 |
|
Hypoalbuminemia, Gastroesophageal reflux, Growth delay, Hyperlipidemia, Hypothyroidism, Abdominal... |
OMIM:256300 |
Cystic Echinococcosis |
|
Peritoneal abscess, Elevated gamma-glutamyltransferase level, Hyperbilirubinemia, Abscess, Ovaria... |
ORPHA:400 |
Transient Neonatal Diabetes Mellitus |
|
Maturity-onset diabetes of the young, Failure to thrive, Umbilical hernia, Hyperglycemia, Intraut... |
ORPHA:99886 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Osteopenia, Failure to thrive in infancy, Intrauterine growth retardation, Hip contracture, Cache... |
OMIM:616801 |
Relapsing Fever |
|
Epistaxis, Hypotension, Diarrhea, Vomiting, Elevated circulating hepatic transaminase concentrati... |
ORPHA:91547 |
Laron Syndrome |
|
Severe short stature, Short toe, Hypoglycemia, Delayed eruption of teeth, Micrognathia, Hyperchol... |
ORPHA:633 |
Angiostrongyliasis |
|
Unusual CNS infection, Vomiting, Stiff neck, Hypereosinophilia, Increased circulating specific Ig... |
ORPHA:74 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Absent patellar reflexes, Limited elbow flexion, Limited hip movement, Limitation of movement at ... |
ORPHA:206594 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentration, Hypercholestero... |
OMIM:619855 |
Camurati-Engelmann Disease |
|
Carious teeth, Limitation of joint mobility, Abnormal tibia morphology, Slender build, Genu valgu... |
ORPHA:1328 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Elevated circulating hepatic transaminase concentration, Growth delay, Failure to thrive, Hypertr... |
OMIM:613561 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... |
ORPHA:251380 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Neonatal hyperbilirubinemia, Increased circulating prolactin concentration, Decreased circulating... |
ORPHA:90674 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration |
ORPHA:2843 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... |
ORPHA:79506 |
Prader-Willi Syndrome |
|
Small hand, Carious teeth, Clinodactyly, Hyperinsulinemia, Genu valgum, Type II diabetes mellitus... |
OMIM:176270 |
Dilated Cardiomyopathy With Ataxia |
|
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Elevated circula... |
ORPHA:66634 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent enteroviral infections, Panhypogammaglobulinemia, Recurrent otitis... |
OMIM:601495 |
Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Mitochondrial Dna Depletion Syndrome 18 |
|
Microcytic anemia, Failure to thrive |
OMIM:618811 |
Simpson-Golabi-Behmel Syndrome |
|
Toe syndactyly, Broad thumb, Finger syndactyly, Supernumerary nipple, Increased circulating IgE l... |
ORPHA:373 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level, Late onset atopic dermatitis |
OMIM:221700 |
Leprechaunism |
|
Megarectum, Failure to thrive, Hypertrophic cardiomyopathy, Postnatal growth retardation, Decreas... |
ORPHA:508 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Epistaxis, Osteopenia, Diarrhea, Rickets, Cholelithiasis, Failure to thrive, Splenomegaly, Cirrho... |
OMIM:211600 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Thymoma, Chronic mucocutaneous candidiasis, Hepatitis, Exocrine pancreatic insufficiency, Primary... |
OMIM:269200 |
Atelosteogenesis Type I |
|
Rhizomelia, Short femur, Absent or minimally ossified vertebral bodies, Micrognathia, Talipes equ... |
ORPHA:1190 |
Smith-Magenis Syndrome |
|
Velopharyngeal insufficiency, Abnormality of the thyroid gland, Malar flattening, Increased body ... |
OMIM:182290 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Pes cavus, Hypercholesterolemia, Distal lower limb muscle weakness |
ORPHA:94124 |
Acquired Von Willebrand Syndrome |
|
Normocytic anemia, Aortic valve stenosis, Gastrointestinal hemorrhage, Hypochromic anemia, Aortic... |
ORPHA:99147 |
Mirage Syndrome |
|
Aspiration pneumonia, Radial club hand, Lymphopenia, Overlapping fingers, Cryptorchidism, Decreas... |
OMIM:617053 |
Foxp1 Syndrome |
|
Decreased circulating iron concentration, Recurrent upper respiratory tract infections, Mandibula... |
ORPHA:391372 |
Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... |
ORPHA:2133 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice |
OMIM:224100 |
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
|
Atopic dermatitis, Vomiting, Diarrhea, Increased circulating ferritin concentration, Thrombocytop... |
ORPHA:3240 |
Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy |
ORPHA:66661 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... |
OMIM:615631 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased circulating IgG level, Crohn's disease, Agammaglobulinemia, Absent circulating B cells,... |
OMIM:619705 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Micrognathia, Postnatal gro... |
OMIM:248370 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Hyperbili... |
OMIM:616689 |
Tick-Borne Encephalitis |
|
Unusual CNS infection, Myelitis, Vomiting, Elevated circulating hepatic transaminase concentratio... |
ORPHA:297 |
Peeling Skin Syndrome 1 |
|
Increased circulating IgE level, Eosinophilia, Palmoplantar hyperhidrosis, Erythroderma, Short st... |
OMIM:270300 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Decreased proportion of memory B cells, Diarrhea, Recurrent enteroviral infections, Recurrent vir... |
ORPHA:79124 |
Cartilage-Hair Hypoplasia |
|
Hypoplasia of the odontoid process, Absent pubertal growth spurt, Lymphopenia, Neutropenia, Metap... |
OMIM:250250 |
Ige Responsiveness, Atopic |
|
Increased circulating IgE level, Allergic rhinitis, Eczematoid dermatitis |
OMIM:147050 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Rhizomelia, Reduced alkyl-dihydroxyacetonephosphate synthase activity in cultured fibroblasts, Di... |
OMIM:600121 |
Shwachman-Diamond Syndrome 1 |
|
Persistence of hemoglobin F, Pancytopenia, Irregular ossification at anterior rib ends, Acute mye... |
OMIM:260400 |
Fanconi-Bickel Syndrome |
|
Elevated circulating alkaline phosphatase concentration, Bowing of the long bones, Hypophosphatem... |
ORPHA:2088 |
Immunodeficiency 7 |
|
Recurrent otitis media, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenop... |
OMIM:615387 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Recurrent pneumonia, Rhizomelia, Dentinogenesis imperfecta, Micromelia, Micrognathia,... |
OMIM:613848 |
Simple Cryoglobulinemia |
|
Chronic lymphatic leukemia, Weight loss, Abdominal pain, Multiple myeloma, Vasculitis, Gastrointe... |
ORPHA:91139 |
Glycogen Storage Disease Ixa1 |
|
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Hyperuricemi... |
OMIM:306000 |
Femoral-Facial Syndrome |
|
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Preaxial foot polydactyl... |
ORPHA:1988 |
Fibrous Dysplasia Of Bone |
|
Increased circulating cortisol level, Osteomalacia, Abnormal tibia morphology, Abnormality of the... |
ORPHA:249 |
Diamond-Blackfan Anemia 7 |
|
Osteopenia, Increased mean corpuscular volume, Short thumb, Recurrent otitis media, Intrauterine ... |
OMIM:612562 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Protein-losing enteropathy, Hematochezia, Recurrent upper respiratory tract infe... |
OMIM:618183 |
Autoimmune Polyendocrinopathy Type 4 |
|
Rheumatoid arthritis, Xerostomia, Iridocyclitis, Tubulointerstitial nephritis, Celiac disease, Au... |
ORPHA:227990 |
Mandibuloacral Dysplasia |
|
Insulin resistance, Increased circulating free fatty acid level, Contractures of the large joints... |
ORPHA:2457 |
Roifman Syndrome |
|
Epiphyseal dysplasia, Recurrent pneumonia, Eczematoid dermatitis, Short toe, Recurrent otitis med... |
ORPHA:353298 |
Cystic Fibrosis |
|
Gastroesophageal reflux, Bronchiectasis, Decreased body mass index, Meconium ileus, Failure to th... |
ORPHA:586 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Elevated gamma-glutamyltransferase l... |
OMIM:617093 |
Immunodeficiency, Common Variable, 14 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Psoriasiform dermatitis, Decrea... |
OMIM:617765 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Osteomalacia, Hepatosplenomegaly, Genu valgum, Fibular bowing, Enamel hypomineralization, Elevate... |
OMIM:307800 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Cholestasis, Hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentration, Hepatomeg... |
OMIM:620010 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Congenital contracture, Thymus hyperplasia, Micrognathia, Arachnodactyly, Talipes equinovarus, Fe... |
OMIM:619036 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, S... |
OMIM:266200 |
Breath-Holding Spells |
|
Iron deficiency anemia, Cyanosis |
OMIM:607578 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Cholestasi... |
OMIM:619662 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Diarrhea, Protracted diarrhea, Lymphopenia, Hepatosplenomegaly, Increased circulating antibody le... |
ORPHA:169160 |
Osteochondrosis Of The Metatarsal Bone |
|
Abnormality of the fifth metatarsal bone, Abnormal metatarsal epiphysis morphology, Structural fo... |
ORPHA:564003 |
Prolidase Deficiency |
|
Recurrent infections, Recurrent pneumonia, Eczematoid dermatitis, Failure to thrive, Elevated cir... |
OMIM:170100 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated circulating hepatic transaminase concentration, Finger swelling, Failure to thrive, Lymp... |
OMIM:617591 |
Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Broad thumb, Micrognathia, Telangiectasia, Cachexia, Visceral angiomatosis, Abnormal large intest... |
ORPHA:109 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia, Membranoproliferative glomerulonephritis, Decreased circulating complement C3 co... |
ORPHA:54370 |
Cryohydrocytosis |
|
Pseudohyperkalemia, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia |
OMIM:185020 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Recurrent pneumonia, Increased circulating interleukin 8 concentration, Failure to thrive in infa... |
OMIM:301220 |
Sarcoidosis, Susceptibility To, 1 |
|
Inflammation of the large intestine, Enlarged lacrimal glands, Mediastinal lymphadenopathy, Pancy... |
OMIM:181000 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Pes cavus, Hypercholesterolemia |
OMIM:607250 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Erythema nodosum, Elevated... |
OMIM:615688 |
Autoimmune Polyendocrinopathy Type 3 |
|
Rheumatoid arthritis, Xerostomia, Autoimmune hypoparathyroidism, Iridocyclitis, Tubulointerstitia... |
ORPHA:227982 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Eczemato... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Eczemato... |
OMIM:233710 |
Cholestasis-Lymphedema Syndrome |
|
Erysipelas, Hyperlipidemia, Splenomegaly, Neonatal cholestatic liver disease, Cirrhosis, Hepatome... |
OMIM:214900 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypoalbuminemia, Hypermethioninemia, Elevated circulating hepatic transaminase concentration, Fai... |
ORPHA:88618 |
Coccidioidomycosis |
|
Abnormality of the spleen, Morbilliform rash, Abscess, Abnormal metacarpal morphology, Erythema n... |
ORPHA:228123 |
Dubowitz Syndrome |
|
Recurrent infections, Anal stenosis, Eczematoid dermatitis, Lymphoma, Postnatal growth retardatio... |
ORPHA:235 |
Pulmonary Arteriovenous Malformation |
|
Bacterial endocarditis, Epistaxis, Brain abscess, Gastrointestinal infarctions, Pulmonary hemorrh... |
ORPHA:2038 |
Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Increased circulating IgE level, Plantar hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:144200 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypocholesterolemia, Elevated circulating aspartate amin... |
OMIM:615558 |
Sitosterolemia 2 |
|
Hypercholesterolemia, Elevated circulating sitosterol concentration |
OMIM:618666 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Inflammation of the large intestine, Recurrent otitis media, Postnatal growth retardation, Hyperi... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Inflammation of the large intestine, Recurrent otitis media, Postnatal growth retardation, Hyperi... |
ORPHA:99228 |
Monosomy X |
|
Inflammation of the large intestine, Recurrent otitis media, Postnatal growth retardation, Hyperi... |
ORPHA:99226 |
Turner Syndrome |
|
Inflammation of the large intestine, Recurrent otitis media, Postnatal growth retardation, Hyperi... |
ORPHA:881 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Megarectum, Intrauterine growth retardation, Elevated circulating creatine kinase concentration, ... |
OMIM:301056 |
Liver Failure, Infantile, Transient |
|
Hypoalbuminemia, Decreased circulating IgG level, Vomiting, Elevated circulating hepatic transami... |
OMIM:613070 |
Immunodeficiency 12 |
|
Recurrent viral infections, Recurrent aphthous stomatitis, Complete or near-complete absence of s... |
OMIM:615468 |
Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... |
OMIM:263300 |
Isolated Congenital Hypoglossia/Aglossia |
|
Aplasia/Hypoplasia of fingers, Microglossia, Aspiration pneumonia, Temporomandibular joint ankylo... |
ORPHA:141152 |
Cocaine Intoxication |
|
Colitis, Flank pain, Glomerulonephritis, Tubulointerstitial nephritis, Abdominal pain, Tachycardi... |
ORPHA:90068 |
Tularemia |
|
Pneumonia, Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal ad... |
ORPHA:3392 |
Squalene Synthase Deficiency |
|
Slender long bone, Retrognathia, Bilateral cryptorchidism, Elbow flexion contracture, Hypocholest... |
OMIM:618156 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubinemia, Anemia of inadequate product... |
OMIM:613673 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Early satiety, Elevated circulating deoxyuridine concentration, Diarrhea, Intestinal pseudo-obstr... |
OMIM:603041 |
Flynn-Aird Syndrome |
|
Carious teeth, Joint stiffness, Primary adrenal insufficiency, Type II diabetes mellitus, Abnorma... |
ORPHA:2047 |
Crimean-Congo Hemorrhagic Fever |
|
Diarrhea, Morbilliform rash, Pancytopenia, Nausea and vomiting, Erythema nodosum, Anorexia, Neutr... |
ORPHA:99827 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Hepatic steatosis, Splenomegaly, Hypertriglyceridemia, Hepatomegaly |
OMIM:614480 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Lymphopenia, Metaphyseal chondrodysplasia, Hypoplasia of the thymus |
OMIM:200900 |
Ataxia-Telangiectasia |
|
Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count, Recurren... |
OMIM:208900 |
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature |
|
Disproportionate short stature, Retrognathia, Lymphopenia, Leukopenia, Recurrent infection of the... |
OMIM:301110 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Limitation of joint mobility, Congestive heart failure, Joint hypermobility, Talipes, Arrhythmia,... |
ORPHA:157973 |
Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections |
OMIM:607624 |
Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Recurrent otitis media, Pyelonephritis, Recurrent sinusitis, ... |
OMIM:610984 |
Netherton Syndrome |
|
Aminoaciduria, Eczematoid dermatitis, Recurrent respiratory infections, Increased circulating IgE... |
ORPHA:634 |
Familial Colorectal Cancer Type X |
|
Neoplasm of the colon, Stomach cancer, Nausea and vomiting, Neoplasm of the skeletal system, Neop... |
ORPHA:440437 |
Candidiasis, Familial, 1 |
|
Cutaneous anergy, Recurrent viral infections, Chronic mucocutaneous candidiasis |
OMIM:114580 |
Lymphangiectasia, Intestinal |
|
Decreased circulating IgG level, Intestinal lymphangiectasia, Lymphopenia, Malabsorption, Neonata... |
OMIM:152800 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Vomiting, Failure to thrive, Hypothyroidism, Hyperalaninemia, Hypochromic microcytic anemia, Anem... |
OMIM:619147 |
Infantile Systemic Hyalinosis |
|
Osteomalacia, Feeding difficulties, Polycystic ovaries, Osteopenia, Aplasia/Hypoplasia of the thy... |
ORPHA:2176 |
Idiopathic Pulmonary Hemosiderosis |
|
Diffuse alveolar hemorrhage, Failure to thrive, Hepatosplenomegaly, Iron deficiency anemia, Glome... |
ORPHA:99931 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Pneumonia, Gastrointestinal hemorrhage, Abnormality of the hepatic vasculature... |
ORPHA:247691 |
Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy... |
ORPHA:158029 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... |
OMIM:300908 |
Specific Granule Deficiency 2 |
|
Osteopenia, Intractable diarrhea, Recurrent pneumonia, Sepsis, Sandal gap, Failure to thrive, Rec... |
OMIM:617475 |
Aids Wasting Syndrome |
|
Malnutrition, Malabsorption, Abnormal gonadotropin-releasing hormone concentration, Cachexia, Wei... |
ORPHA:90081 |
Rhabdoid Tumor |
|
Hypercalcemia, Nausea and vomiting, Renal neoplasm, Neoplasm of the liver, Weight loss, Internal ... |
ORPHA:69077 |
Glut1 Deficiency Syndrome 2 |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis, Reduced haptoglobin level |
OMIM:612126 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Abnormal trabecular bone morphology, Abnormal fingertip morpholo... |
ORPHA:79106 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Elevated circulating propionylcarnitine concentration, Pancytopenia, Talipes equinovarus, Neutrop... |
OMIM:277380 |
Osteopetrosis, Autosomal Recessive 9 |
|
Hyperparathyroidism, Cortical sclerosis, Pathologic fracture, Elevated circulating creatinine con... |
OMIM:620366 |
Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Minimal change glomerulonephritis, Dilated cardiomyopathy, Clinodactyly, Microgn... |
OMIM:616730 |
Cinca Syndrome |
|
Growth delay, Leukocytosis, Splenomegaly, Nausea and vomiting, Inflammatory abnormality of the ey... |
ORPHA:1451 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Hyperbilirubinemia, Neutropenia, Anorexia, Hepatomegaly, Vill... |
OMIM:557000 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Delayed epiphyseal ossification, Decreased circulating parathyroid hormone level, Rickets, Bulgin... |
OMIM:241530 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Inflammation of the large in... |
ORPHA:562639 |
Tenorio Syndrome |
|
Osteopenia, Recurrent pneumonia, Gastroesophageal reflux, Hypoglycemia, Recurrent aphthous stomat... |
OMIM:616260 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Eczemato... |
OMIM:233690 |
Glycogen Storage Disease Ic |
|
Inflammation of the large intestine, Spider hemangioma, Recurrent upper respiratory tract infecti... |
OMIM:232240 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Abnormal circulating interleukin concentration, Diarrhea, Vomiting, Hypotension, Increased circul... |
ORPHA:542323 |
Reni Syndrome |
|
Hypoalbuminemia, Hypoglycemia, Hypogonadism, Lymphopenia, Adrenal insufficiency, Cryptorchidism, ... |
OMIM:617575 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Mandibular prognathia, Gastroesophageal reflux, HbH hemoglobin, Clinodactyly, Radial deviation of... |
OMIM:301040 |
Castleman Disease |
|
Myelofibrosis, Restrictive cardiomyopathy, Nausea and vomiting, Follicular hyperplasia, Intestina... |
ORPHA:160 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Increased circulating IgE level |
ORPHA:89843 |
Dehydrated Hereditary Stomatocytosis |
|
Neonatal hyperbilirubinemia, Anemia of inadequate production, Increased circulating hemoglobin co... |
ORPHA:3202 |
Spherocytosis, Type 4 |
|
Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia |
OMIM:612653 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal trabecular bone morphology, Abnormal cementum morphology, Mandibular osteomyelitis, Dent... |
ORPHA:83451 |
Adult-Onset Nemaline Myopathy |
|
Neuromuscular dysphagia, Dilated cardiomyopathy, Paraproteinemia, Micrognathia, High palate, Flex... |
ORPHA:171442 |
Osteootohepatoenteric Syndrome |
|
Hepatic fibrosis, Portal fibrosis, Secretory diarrhea, Failure to thrive, Cholestasis, Avascular ... |
OMIM:619377 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Failure to thrive, Growth delay, Fib... |
OMIM:600081 |
Pulmonary Hemosiderosis |
|
Iron deficiency anemia, Recurrent intrapulmonary hemorrhage |
OMIM:178550 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Eczematoid dermatitis, Agammaglobulinemia, Seborrheic dermatitis, Absent circulating B cells, Thr... |
OMIM:619693 |
Alpha-1-Antitrypsin Deficiency |
|
Reduced circulating alpha-1-antitrypsin concentration, Splenomegaly, Cirrhosis, Bronchiectasis, H... |
OMIM:613490 |
Spondyloepiphyseal Dysplasia Congenita |
|
Aplasia/hypoplasia involving bones of the extremities, Growth delay, Short femoral neck, Abnormal... |
ORPHA:94068 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Increased circulating ferritin concentration, Sideroblastic anemia, Splenomegaly, Hepatomegaly, E... |
OMIM:615234 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Hand clenching, Gastroesophageal reflux, Arthrogryposis multiplex congenita, Retrognathia, Abnorm... |
OMIM:618186 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Intrauteri... |
OMIM:301310 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Palmop... |
ORPHA:2198 |
Splenoportal Vascular Anomalies |
|
Hepatic fibrosis, Ascites, Splenomegaly, Hyperammonemia, Cirrhosis, Anomalous splenoportal venous... |
OMIM:271500 |
Williams Syndrome |
|
Nausea and vomiting, Mitral regurgitation, Arthralgia, Ataxia, Abdominal pain, Rectal prolapse, C... |
ORPHA:904 |
Inflammatory Pseudotumor Of The Liver |
|
Vomiting, Elevated circulating aspartate aminotransferase concentration, Increased hepatitis B vi... |
ORPHA:90003 |
Familial Adenomatous Polyposis 1 |
|
Carious teeth, Multiple lipomas, Hepatoblastoma, Osteoma, Desmoid tumors, Carcinoma, Adrenocortic... |
OMIM:175100 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hypoalbuminemia, Protein-losing enteropathy, Hematochezia, Diarrhea, Abnormal circulating protein... |
ORPHA:103910 |
Autosomal Agammaglobulinemia |
|
Recurrent infections, Diarrhea, Bronchiectasis, Hepatitis, Failure to thrive, Sepsis, Recurrent r... |
ORPHA:33110 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Osteoma, Fibrosarcoma, Desmoid tumors, Adrenocortical adenoma, Medulloblastoma, Multiple gastric ... |
ORPHA:247806 |
Silver-Russell Syndrome |
|
Premature adrenarche, Recurrent hypoglycemia, Postnatal growth retardation, Micrognathia, Cryptor... |
ORPHA:813 |
Riboflavin Transporter Deficiency |
|
Hypogonadism, Cachexia, Dysphagia, Diabetes insipidus, Hypertension |
ORPHA:97229 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumonia, Decreased circulating IgG level, Recurrent infections, Diarrhea, Recurrent upper respi... |
OMIM:614069 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Carious teeth, Palmoplantar blistering, Mitten deformity, Gastrointestinal inflammation, Anemia, ... |
ORPHA:79409 |
Sodium-Dependent Multivitamin Transporter Deficiency |
|
Clubbing of fingers, Decreased circulating IgG level, Episodic vomiting, Gastrostomy tube feeding... |
OMIM:618973 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Diarrhea, Lipid accumulation in hepatocytes, Feeding difficulties in infancy, Arrhythmia, Elevate... |
OMIM:608836 |
Classic Mycosis Fungoides |
|
Eczematoid dermatitis, Abnormal lymphocyte morphology, Skin rash, Splenomegaly, Lymphadenopathy, ... |
ORPHA:2584 |
Glucagonoma |
|
Diarrhea, Increased circulating cortisol level, Increased circulating prolactin concentration, Ac... |
ORPHA:97280 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Aminoaciduria, Vomiting, Diarrhea, Failure to thrive, Cachexia, Weight loss, Feeding difficulties |
OMIM:612075 |
Pachydermoperiostosis |
|
Neoplasm of the skin, Small hand, Limitation of joint mobility, Elevated circulating growth hormo... |
ORPHA:2796 |
Neuhauser Syndrome |
|
Genu recurvatum, Bifid uvula, Osteopenia, Micrognathia, Genu valgum, Primary hypothyroidism, Arac... |
OMIM:249310 |
Monosomy 22 |
|
Contractures of the large joints, Finger syndactyly, Meningioma, Gonadal neoplasm, Schwannoma, He... |
ORPHA:96123 |
Nephrotic Syndrome, Type 2 |
|
Hypoalbuminemia, Hyperlipidemia |
OMIM:600995 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Hepatomegaly, Fetal ascites, Splenomegaly |
OMIM:619462 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Vasculitis, Monoclonal immunoglobulin M proteinemia, Gastrointestinal hemorrha... |
ORPHA:33226 |
Refractory Anemia |
|
Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi... |
ORPHA:98826 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Increased circulating ferritin concentration, Hypoplasia of th... |
OMIM:619313 |
Insulin Autoimmune Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Increased circula... |
ORPHA:411593 |
Aicardi-Goutieres Syndrome 7 |
|
Diarrhea, Pancytopenia, Chilblains, Hepatic steatosis, Increased circulating antibody level, Weig... |
OMIM:615846 |
Gaucher Disease |
|
Decreased HDL cholesterol concentration, Pancytopenia, Increased circulating antibody level, Feed... |
ORPHA:355 |
C1Q Deficiency 2 |
|
Discoid lupus rash, Pneumocystis carinii pneumonia, Sepsis, Recurrent otitis media, Malar rash, C... |
OMIM:620321 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Abnormal fingertip morphology, Abnormal blood ion concentration, Recurrent skin infections, Pyode... |
ORPHA:79404 |
Microsporidiosis |
|
Lymphadenitis, Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Ke... |
ORPHA:2552 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia, Feeding difficulties |
OMIM:614652 |
Propionic Acidemia |
|
Hyperglycinuria, Pancytopenia, Hyperglycinemia, Feeding difficulties in infancy, Neutropenia, Hep... |
OMIM:606054 |
Spherocytosis, Type 2 |
|
Hyperbilirubinemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol... |
OMIM:616649 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Vomiting, Vasospasm, Congestive heart failure, Hypopituitarism, Hyperglycemia, Ischemic stroke, L... |
ORPHA:90065 |
Poems Syndrome |
|
Increased circulating prolactin concentration, Sclerosis of hand bone, Sclerosis of foot bone, In... |
ORPHA:2905 |
Low Phospholipid-Associated Cholelithiasis |
|
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Abdominal colic, Elevated circulatin... |
ORPHA:69663 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transamin... |
OMIM:242150 |
Specific Granule Deficiency 1 |
|
Recurrent pneumonia, Recurrent otitis media, Impaired neutrophil chemotaxis, Recurrent bacterial ... |
OMIM:245480 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Eczematoid dermatitis,... |
OMIM:242700 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Fasting hypoglycemia, Truncal obesity, Hypoinsu... |
OMIM:240900 |
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Slender finger, Homocystinuria, Vomiting, Diarrhea, Failure to thrive, Decreased methionine synth... |
OMIM:250940 |
Nijmegen Breakage Syndrome |
|
Acute leukemia, Glioma, Cachexia, Anal atresia, Autoimmune hemolytic anemia, Chronic diarrhea, He... |
ORPHA:647 |
X-Linked Creatine Transporter Deficiency |
|
Ileus, Malar flattening, Joint hypermobility, Aganglionic megacolon, Cachexia, Constipation, Abno... |
ORPHA:52503 |
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1 |
|
Enterocolitis, Failure to thrive |
OMIM:301108 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Elevated circulating creatinine concentration, Intrauterine growth retardation, Gout, Hyperuricem... |
OMIM:617056 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Pneumonia, Recurrent viral infections, Diarrhea, Periodontitis, Recurrent aphthous stomatitis, Re... |
ORPHA:486 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormal blood inorganic cation concentration, Elevated circulating hepatic transaminase concentr... |
ORPHA:309854 |
Gracile Syndrome |
|
Aminoaciduria, Increased circulating iron concentration, Increased circulating ferritin concentra... |
OMIM:603358 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Elevated gamma-glutamyltransferase level, Broad thumb, Cholestasis, Hyperbilirubinemia, Congenita... |
OMIM:619534 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Aminoaciduria, Gastroesophageal reflux, Cardiomyopathy, Sideroblastic anemia, Cryptorchidism, Thi... |
OMIM:249270 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Failure to thrive, Cardiomyopathy, Splenomegaly, Macrocytic anemia, Hyperprolinemia, Feeding diff... |
OMIM:619046 |
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies |
|
Symphalangism of the thumb, Short toe, Clinodactyly, Recurrent urinary tract infections, Broad ha... |
OMIM:620494 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Vomiting, Gastroesophageal reflux, Elevated circulating hepatic transaminase concentration, Hypog... |
ORPHA:17 |
Trichothiodystrophy 3, Photosensitive |
|
Neoplasm of the skin, Carious teeth, Meckel diverticulum, Failure to thrive, Natal tooth, Bilater... |
OMIM:616395 |
Tyrosinemia Type 1 |
|
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma |
ORPHA:882 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Broad middle phalanx of finger, Diarrhea, Decreased circulating total IgG, Recurrent viral infect... |
ORPHA:221139 |
Purine Nucleoside Phosphorylase Deficiency |
|
Hypouricemia, Pneumonia, Recurrent upper respiratory tract infections, Recurrent viral infections... |
OMIM:613179 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hypertriglyceridemia, Decreased lecithin cholesterol acyl transferase level, Decreased HDL choles... |
OMIM:245900 |
Harderoporphyria |
|
Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Reticulocytosis, Splen... |
OMIM:618892 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Rickets, Failure to thrive, Hepatosplenomegaly, Reticulocytosis, Hypokalemia, Anorexia, Short sta... |
OMIM:611590 |
Immunodeficiency 22 |
|
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Diarrhea, Failure ... |
OMIM:615758 |
Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia, Minimal change glomerulonephritis |
OMIM:617609 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Bone marrow hypocellularity, Gastrointestinal hemorrhage, Osteopenia, Aplastic anemia, Oral leuko... |
OMIM:613990 |
Viss Syndrome |
|
Increased circulating IgE level, Exostosis of the external auditory canal, Cleft soft palate, Mic... |
OMIM:619472 |
Immunodeficiency, Common Variable, 7 |
|
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul... |
OMIM:614699 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Bone marrow hypocellularity, Increased circulating lactate dehydrogenase concentration, Abnormal ... |
ORPHA:86841 |
Albers-Schönberg Osteopetrosis |
|
Short distal phalanx of finger, Mandibular osteomyelitis, Abnormal epiphysis morphology, Carious ... |
ORPHA:53 |
Spherocytosis, Type 1 |
|
Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol... |
OMIM:182900 |
Spinocerebellar Ataxia 48 |
|
Cachexia, Dysphagia |
OMIM:618093 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal mesentery morphology, Abnormality of the spleen, Cachexia, Tracheoesophageal fistula, In... |
ORPHA:93941 |
Cartilage-Hair Hypoplasia |
|
Small hand, Bowing of the long bones, Neutropenia, Abnormal bone ossification, Hepatomegaly, Diap... |
ORPHA:175 |
Mcdonough Syndrome |
|
Dental malocclusion, Micrognathia, Cryptorchidism, Cachexia, Short stature, Mandibular prognathia |
ORPHA:2471 |
Sapho Syndrome |
|
Inflammation of the large intestine, Psoriasiform dermatitis, Palmoplantar pustulosis, Neoplasm o... |
ORPHA:793 |
Rift Valley Fever |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Severe viral infection, Anore... |
ORPHA:319251 |
Eisenmenger Syndrome |
|
Abnormal circulating B-type natriuretic peptide concentration, Elevated jugular venous pressure, ... |
ORPHA:97214 |
Leukocyte Adhesion Deficiency, Type I |
|
Periodontitis, Chronic mucocutaneous candidiasis, Osteomyelitis, Chronic diarrhea, Recurrent gram... |
OMIM:116920 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... |
OMIM:314050 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Cardiomyopathy, Leukopenia, Nausea and vomiting, Hyperammonemia, Macrocytic anemia, Hepatomegaly,... |
ORPHA:27 |
Immunodeficiency 91 And Hyperinflammation |
|
Hemophagocytosis, Acute hepatic failure, Hepatosplenomegaly, Pulmonary hemorrhage, Neutrophilia, ... |
OMIM:619644 |
Atelosteogenesis Type Ii |
|
Hypoplastic cervical vertebrae, Equinovarus deformity, Micrognathia, Genu valgum, Bilateral cleft... |
ORPHA:56304 |
Alexander Disease Type I |
|
Cachexia, Vomiting, Dysphagia, Failure to thrive |
ORPHA:363717 |
Griscelli Syndrome Type 2 |
|
Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepat... |
ORPHA:79477 |
Vipoma |
|
Follicular thyroid carcinoma, Increased circulating cortisol level, Increased circulating prolact... |
ORPHA:97282 |
Thrombocythemia 1 |
|
Splenomegaly, Thrombocytosis |
OMIM:187950 |
Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Micrognathia, Metatarsus valgus, Joint hypermobility, Hypothyroidism, Hypercholestero... |
ORPHA:2479 |
Paget Disease Of Bone 2, Early-Onset |
|
Fractures of the long bones, Hydroxyprolinuria, Sclerosis of skull base, Femoral bowing, Increase... |
OMIM:602080 |
Mulibrey Nanism |
|
Hepatomegaly, Intrauterine growth retardation, Cachexia, Short stature |
ORPHA:2576 |
Pulmonary Blastoma |
|
Recurrent pneumonia, Weight loss, Pleuropulmonary blastoma |
ORPHA:64741 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Small hand, Elbow flexion contracture, Intrauterine growth retardation, Micrognathia, Hip contrac... |
ORPHA:371364 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Reduced circulating complement concentration, Elevated circulating creatinine concentration, Skin... |
ORPHA:567544 |
Polymyositis |
|
Vasculitis, Gastrointestinal hemorrhage, Gastroesophageal reflux, Abnormal atrioventricular condu... |
ORPHA:732 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Skin rash, Splenomegaly, Hepatomegaly, Lymphadenopathy, Arthritis, Elevated circulating C-reactiv... |
ORPHA:85414 |
Immunodeficiency 44 |
|
Post-vaccination measles, Severe viral infection, Lymphopenia, Decreased circulating IgA level, A... |
OMIM:616636 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,... |
OMIM:618528 |
Isolated Agammaglobulinemia |
|
Diarrhea, Inflammatory abnormality of the eye, Meningitis, Recurrent cutaneous abscess formation,... |
ORPHA:229717 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Delayed epiphyseal ossification, Enlarged metaphyses, Hyperbilirubinemia, Micrognathia, Cryptorch... |
OMIM:210710 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Common Variable Immunodeficiency |
|
Pneumonia, Vasculitis, Bronchiectasis, Elevated circulating hepatic transaminase concentration, L... |
ORPHA:1572 |
Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Persistence of hemoglobin F, Pancytopenia, Micrognathia, Cryptorchidism, Acute m... |
OMIM:617052 |
Overhydrated Hereditary Stomatocytosis |
|
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... |
ORPHA:3203 |
Diencephalic Syndrome |
|
Decreased body weight, Neoplasm of the nervous system, Cachexia, Large hands, Abnormality of the ... |
ORPHA:1672 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Enamel hypomineralization, Iron deficiency anemia, Thrombocytopenia, Neutropenia, Increased mean ... |
ORPHA:494444 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibod... |
OMIM:247800 |
C3 Glomerulopathy |
|
Paraproteinemia, Elevated circulating creatinine concentration, Decreased circulating complement ... |
ORPHA:329918 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Increased circula... |
OMIM:194380 |
Tetrasomy 12P |
|
Delayed eruption of teeth, Joint hypermobility, Cachexia, Short stature, Abnormal soft palate mor... |
ORPHA:884 |
Alveolar Echinococcosis |
|
Abnormal mesentery morphology, Increased circulating antibody level, Abnormal spleen morphology, ... |
ORPHA:284 |
Proteus Syndrome |
|
Mandibular hyperostosis, Hypertrophy of skin of soles, Facial hyperostosis, Splenomegaly, Multipl... |
OMIM:176920 |
Iga Pemphigus |
|
Cutaneous abscess, Neutrophilic infiltration of the skin, Pain, Pustule, Increased circulating Ig... |
ORPHA:555905 |
Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Vasculitis, Abnormal circulating interleukin concentration, Hypotension, Sepsis, Abnor... |
ORPHA:70578 |
Fanconi Anemia |
|
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the uvula... |
ORPHA:84 |
Congenital Lethal Erythroderma |
|
Hypoalbuminemia, Malabsorption, Congenital exfoliative erythroderma, Failure to thrive |
ORPHA:1954 |
Igg4-Related Submandibular Gland Disease |
|
Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Increased circulating IgE lev... |
ORPHA:449432 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Aminoaciduria, Cardiomyopathy, Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic... |
OMIM:616084 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Paraproteinemia, Hypertrophic cardiomyopathy, Elevated circulating creatinine con... |
ORPHA:439232 |
Myelofibrosis |
|
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di... |
OMIM:254450 |
Adult-Onset Still Disease |
|
Weight loss, Neutrophilia, Hepatomegaly, Elevated circulating C-reactive protein concentration, A... |
ORPHA:829 |
Classic Hodgkin Lymphoma |
|
Bone marrow hypocellularity, Lymphoma, Neoplasm, Splenomegaly, Skin rash, Weight loss, Lymphadeno... |
ORPHA:391 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hemophagocytosis, Pancytopenia, Opportunistic bacterial infection, Abnormal T cell subset distrib... |
ORPHA:158048 |
Hereditary Folate Malabsorption |
|
Cheilitis, Gastroesophageal reflux, Diarrhea, Failure to thrive, Recurrent respiratory infections... |
ORPHA:90045 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo... |
ORPHA:3226 |
Gamma-Heavy Chain Disease |
|
Rheumatoid arthritis, Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, ... |
ORPHA:100026 |
Osteopetrosis, Autosomal Recessive 1 |
|
Carious teeth, Increased circulating lactate dehydrogenase concentration, Failure to thrive, Flar... |
OMIM:259700 |
Bone Dysplasia, Lethal Holmgren Type |
|
Rhizomelia, Diarrhea, Abnormal epiphysis morphology, Micromelia, Abnormal diaphysis morphology, F... |
ORPHA:1842 |
Fumarase Deficiency |
|
Aminoaciduria, Intrahepatic cholestasis, Hepatic failure, Cutaneous leiomyoma, Polycythemia, Fail... |
OMIM:606812 |
Iron-Refractory Iron Deficiency Anemia |
|
Poikilocytosis, Elevated circulating hepcidin concentration, Hypochromic microcytic anemia, Aniso... |
OMIM:206200 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Abnormal cortical bone morphology, Splenomegaly, Limb undergrowth, Abnormal limb bone morphology,... |
ORPHA:2204 |
Chilblain Lupus |
|
Discoid lupus rash, Inflammatory abnormality of the skin, Finger swelling, Chronic myelomonocytic... |
ORPHA:90280 |
Kaufman Oculocerebrofacial Syndrome |
|
Recurrent infections, Congenital hip dislocation, Carious teeth, Failure to thrive, Intestinal ma... |
OMIM:244450 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Failure to thrive, Hypocholesterolemia, Psoriasiform dermatitis, Decreased LDL cholesterol concen... |
OMIM:616834 |
Alopecia Totalis |
|
Inflammation of the large intestine |
ORPHA:700 |
Acute Adrenal Insufficiency |
|
Diarrhea, Nausea and vomiting, Weight loss, Anorexia, Abdominal pain, Hyperkalemia, Androgen insu... |
ORPHA:95409 |
Legionnaires Disease |
|
Diarrhea, Nausea and vomiting, Arrhythmia, Arthralgia, Ataxia, Recurrent pharyngitis, Anorexia, A... |
ORPHA:549 |
Schimke Immunoosseous Dysplasia |
|
Shallow acetabular fossae, Lymphopenia, Pancytopenia, Abnormal immunoglobulin level, Talipes equi... |
OMIM:242900 |
Yellow Fever |
|
Diarrhea, Pancreatic hyperplasia, Hyperbilirubinemia, Elevated circulating alanine aminotransfera... |
ORPHA:99829 |
Acute Bilirubin Encephalopathy |
|
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia, Prolonged neonatal jaundice, Neonata... |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
|
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia, Prolonged neonatal jaundice, Neonata... |
ORPHA:529808 |
Erythroderma, Lethal Congenital |
|
Hypoalbuminemia, Congenital exfoliative erythroderma, Failure to thrive |
OMIM:227090 |
Familial Mediterranean Fever |
|
Diarrhea, Vomiting, Erysipelas, Leukocytosis, Splenomegaly, Chronic constipation, Crohn's disease... |
OMIM:249100 |
Cockayne Syndrome |
|
Carious teeth, Absence of pubertal development, Postnatal growth retardation, Cryptorchidism, Del... |
ORPHA:191 |
Kawasaki Disease |
|
Diarrhea, Nausea and vomiting, Arrhythmia, Recurrent pharyngitis, Elevated circulating C-reactive... |
ORPHA:2331 |
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
Intestinal bleeding, Adenomatous colonic polyposis, Micrognathia, Duodenal polyposis, Hepatoblast... |
ORPHA:261584 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypoalbuminemia, Pes cavus, Hypercholesterolemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
Mitochondrial Dna Depletion Syndrome 19 |
|
Microcytic anemia, Hydrocele testis |
OMIM:618972 |
Congenital Factor Xiii Deficiency |
|
Epistaxis, Inflammation of the large intestine, Hepatic failure, Myeloid leukemia, Cerebral hemor... |
ORPHA:331 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Growt... |
ORPHA:541423 |
Chromosome 5Q Deletion Syndrome |
|
Erythroid hypoplasia, Myelodysplasia, Refractory macrocytic anemia, Anemia of inadequate production |
OMIM:153550 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the skin, Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal aden... |
ORPHA:454840 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hypotension, Vomiting, Failure to thrive, Hyponatremia, Feeding difficulties in infancy, Hyperkal... |
OMIM:203400 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Renal hypophosphatemia, Osteomalacia, Rickets of the lower limbs, Tooth abscess, Genu varum, Mala... |
ORPHA:289176 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Normocytic anemia, Homocystinuria, Failure to thrive, Decreased methionine synthase activity, Hyp... |
OMIM:236270 |
Kindler Epidermolysis Bullosa |
|
Inflammation of the large intestine, Carious teeth, Periodontitis, Finger syndactyly, Esophagitis... |
ORPHA:2908 |
Hyperlipoproteinemia, Type Id |
|
Failure to thrive, Increased circulating chylomicron concentration, Decreased HDL cholesterol con... |
OMIM:615947 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Limitation of joint mobility, Carpal osteolysis, Slender long bone, Camptodactyly of finger, Meta... |
ORPHA:2774 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hemophagocytosis, Hepatosplenomegaly, Anemia, Hypertriglyceridemia, Reduced natural killer cell a... |
OMIM:608898 |
Dyskeratosis Congenita |
|
Carious teeth, Periodontitis, Cirrhosis, Hepatomegaly, Esophageal stenosis, Hypoplasia of the max... |
ORPHA:1775 |
Reticular Dysgenesis |
|
Sepsis, Impaired T cell function, Lack of T cell function, Lymphopenia, Congenital agranulocytosi... |
OMIM:267500 |
Hemorrhagic Fever-Renal Syndrome |
|
Diarrhea, Hyperphosphatemia, Decreased body weight, Acute tubulointerstitial nephritis, Glomerulo... |
ORPHA:340 |
Tafro Syndrome |
|
Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, Elevated circulati... |
ORPHA:457077 |
Hypercholanemia, Familial 1 |
|
Rickets, Failure to thrive, Increased serum bile acid concentration, Steatorrhea, Fat malabsorption |
OMIM:607748 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circulating gamma-aminobutyric acid concent... |
OMIM:619658 |
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Growth delay, Megaloblastic anemia, Absence of intrinsic factor |
OMIM:243320 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia, Minimal change glomerulonephritis, Pulmonary embolism, Abnormal circulating lipi... |
ORPHA:567548 |
Ck Syndrome |
|
Retrognathia, Slender build, Micrognathia, Abnormal cortical bone morphology, Malar flattening, A... |
OMIM:300831 |
Transcobalamin Ii Deficiency |
|
Decreased circulating IgG level, Diarrhea, Vomiting, Failure to thrive, Decreased circulating IgA... |
OMIM:275350 |
Galloway-Mowat Syndrome 7 |
|
Minimal change glomerulonephritis, Dilated cardiomyopathy, Eczematoid dermatitis, Clinodactyly, M... |
OMIM:618348 |
Intermediate Osteopetrosis |
|
Erlenmeyer flask deformity of the femurs, Dental malocclusion, Cortical sclerosis, Osteomyelitis,... |
ORPHA:210110 |
Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia, Enamel hypoplasia |
OMIM:618349 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Cholelithiasis, Increased circulating lactate dehydrogenase concentration, Hyp... |
OMIM:611881 |
Mgat2-Cdg |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Gastr... |
ORPHA:79329 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Arachnodactyly, Joint stiffness, Cachexia, Short stature |
ORPHA:1144 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... |
OMIM:202700 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthritis, Psoriasiform derma... |
OMIM:106300 |
Wiedemann-Rautenstrauch Syndrome |
|
Natal tooth, Increased circulating prolactin concentration, Recurrent otitis media, Slender build... |
ORPHA:3455 |
Folate Malabsorption, Hereditary |
|
Diarrhea, Failure to thrive, Leukopenia, Folate-responsive megaloblastic anemia, Malabsorption, F... |
OMIM:229050 |
Acromesomelic Dysplasia 2A |
|
Acromesomelia, Disproportionate short-limb short stature, Short tibia, Aplasia/Hypoplasia involvi... |
OMIM:200700 |
Immunodeficiency 46 |
|
Sepsis, Conjunctivitis, Failure to thrive, Chronic diarrhea, Recurrent sinopulmonary infections, ... |
OMIM:616740 |
Bloom Syndrome |
|
Postnatal growth retardation, Type II diabetes mellitus, Hepatic steatosis, Cryptorchidism, Leuke... |
OMIM:210900 |
Lymphoma, Hodgkin, Classic |
|
Hodgkin lymphoma, Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemag... |
OMIM:236000 |
Acrocapitofemoral Dysplasia |
|
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... |
OMIM:607778 |
Dengue Fever |
|
Epistaxis, Gastrointestinal hemorrhage, Diarrhea, Hypotension, Nausea and vomiting, Skin rash, Ar... |
ORPHA:99828 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Bone marrow hypocellularity, Reduced natural killer cell count, Inflammation of the large intesti... |
OMIM:620133 |
Acute Panmyelosis With Myelofibrosis |
|
Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye... |
ORPHA:86843 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Neoplasm of the colon, Nausea and vomiting, Skin rash, Esophageal ne... |
ORPHA:44890 |
Gorham-Stout Disease |
|
Osteopenia, Abnormal facial skeleton morphology, Abnormality of the temporomandibular joint, Cort... |
ORPHA:73 |
Hypotrichosis Simplex Of The Scalp |
|
Increased circulating IgE level, Allergic rhinitis, Atopic dermatitis |
ORPHA:90368 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Recurrent pneumonia, Gastroesophageal reflux, Growth delay, Rectal prolapse, Feeding difficulties... |
OMIM:613177 |
Vici Syndrome |
|
Recurrent viral infections, Lymphopenia, Postnatal growth retardation, Micrognathia, Decreased pr... |
OMIM:242840 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Melena, Elevated circulating hepatic transaminase concentration, Increased mean corpuscular volum... |
ORPHA:98870 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Cholecystitis, Splenomegaly, No... |
OMIM:613470 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Elevated circulating parathyroid hor... |
OMIM:600785 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Pneumonia, Recurrent mycobacterial infections, Recurrent viral infections, Sepsis, Recurrent fung... |
ORPHA:169090 |
Atelosteogenesis, Type I |
|
Radial bowing, Fibular aplasia, Micrognathia, Cryptorchidism, Encephalocele, Talipes, Talipes equ... |
OMIM:108720 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Broad thumb, Clinodactyly, Lymphopenia, Hepatosplenomegaly, Mitral regurgitation, Cryptorchidism,... |
OMIM:612541 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Aminoaciduria, Cachexia, Short stature, Elevated circulating creatine kinase concentration |
ORPHA:1933 |
Cinca Syndrome |
|
Patellar overgrowth, Hepatosplenomegaly, Leukocytosis, Skin rash, Eosinophilia, Elevated circulat... |
OMIM:607115 |
Gm1 Gangliosidosis |
|
Aspiration pneumonia, Hepatosplenomegaly, Weight loss, Dysphagia, Patent ductus arteriosus, Mandi... |
ORPHA:354 |
Muir-Torre Syndrome |
|
Sebaceous gland carcinoma, Colonic diverticula, Colon cancer, Malignant genitourinary tract tumor... |
OMIM:158320 |
Immunodeficiency 9 |
|
Decreased circulating IgG level, Failure to thrive, BCGitis, Lymphopenia, Decreased circulating I... |
OMIM:612782 |
Williams-Beuren Syndrome |
|
Recurrent otitis media, Mitral regurgitation, Chronic constipation, Feeding difficulties in infan... |
OMIM:194050 |
Hypophosphatasia, Infantile |
|
Unossified vertebral bodies, Metaphyseal cupping, Vomiting, Disproportionate short-limb short sta... |
OMIM:241500 |
Tako-Tsubo Cardiomyopathy |
|
Abnormal circulating B-type natriuretic peptide concentration, Mitral regurgitation, Arrhythmia, ... |
ORPHA:66529 |
Bone Marrow Failure Syndrome 6 |
|
Bone marrow hypocellularity, Osteopenia, Increased mean corpuscular volume, Persistence of hemogl... |
OMIM:618849 |
Idiopathic Bronchiectasis |
|
Bronchiectasis, Recurrent Haemophilus influenzae infections, Cachexia, Acute infectious pneumonia... |
ORPHA:60033 |
Wiedemann-Rautenstrauch Syndrome |
|
Natal tooth, Clinodactyly, Micrognathia, Cryptorchidism, Talipes equinovarus, Large hands, Dyspha... |
OMIM:264090 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Joint stiffness, Cachexia |
ORPHA:1216 |
Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
Moynahan Syndrome |
|
Hypogonadism, Cachexia, Short stature |
ORPHA:2574 |
Congenital Analbuminemia |
|
Hypoalbuminemia, Pedal edema, Obesity, Hyperlipidemia, Increased circulating antibody level, Hype... |
ORPHA:86816 |
Cystinosis |
|
Aminoaciduria, Type I diabetes mellitus, Vomiting, Rickets, Failure to thrive, Malabsorption, Por... |
ORPHA:213 |
Infantile Liver Failure Syndrome 1 |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute hepatic failure... |
OMIM:615438 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... |
ORPHA:300298 |
Early-Onset Familial Hypoaldosteronism |
|
Hypotension, Vomiting, Failure to thrive, Postnatal growth retardation, Hyponatremia, Orthostatic... |
ORPHA:556030 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Severe short stature, Rhizomelia, Limitation of joint mobility, Wide distal femoral metaphysis, S... |
OMIM:619598 |
Liver Disease, Severe Congenital |
|
Diarrhea, Portal inflammation, Recurrent otitis media, Hyperbilirubinemia, Micrognathia, Hepatic ... |
OMIM:619991 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis |
OMIM:617441 |
Igg4-Related Pachymeningitis |
|
Nephritis, Lymphadenitis, Parotitis, Increased circulating IgG4 level, Reduced circulating comple... |
ORPHA:449427 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Molluscum contagiosum, Abnormal circulating IgG level, Recurrent bacterial infections, Dysgammagl... |
OMIM:300291 |
Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
Pyridoxal Phosphate-Responsive Seizures |
|
Failure to thrive, Hypoglycemia, Abnormal circulating arginine concentration, Abnormal circulatin... |
ORPHA:79096 |
Renal Failure, Progressive, With Hypertension |
|
Nephritis, Elevated circulating creatinine concentration, Hypertension |
OMIM:161900 |
Diamond-Blackfan Anemia 6 |
|
Bifid uvula, Increased mean corpuscular volume, Tracheomalacia, Short thumb, Persistence of hemog... |
OMIM:612561 |
Classical Ehlers-Danlos Syndrome |
|
Vomiting, Gastroesophageal reflux, Arterial rupture, Limb pain, Mitral regurgitation, Chronic con... |
ORPHA:287 |
Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia, Refract... |
OMIM:619523 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Bone marrow hypocellularity, Osteopenia, Gastroesophageal reflux, Aplastic anemia, Pancytopenia, ... |
OMIM:614742 |
Jervell And Lange-Nielsen Syndrome |
|
Torsade de pointes, Arrhythmia, Syncope, Iron deficiency anemia, Ventricular fibrillation, Prolon... |
ORPHA:90647 |
Primary Sjögren Syndrome |
|
Arteritis, Xerostomia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Increase... |
ORPHA:289390 |
Ebola Hemorrhagic Fever |
|
Acute pancreatitis, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Hepatitis, Sepsis, Lymphopen... |
ORPHA:319218 |
Late-Onset Familial Hypoaldosteronism |
|
Hypotension, Vomiting, Failure to thrive, Postnatal growth retardation, Hyponatremia, Orthostatic... |
ORPHA:556037 |
Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Pancytopenia, Ankle clonus, Thrombocytopenia, Neutropenia, Anemia,... |
OMIM:159550 |
Overlap Myositis |
|
Rheumatoid arthritis, Elevated circulating hepatic transaminase concentration, Finger swelling, A... |
ORPHA:206572 |
Bardet-Biedl Syndrome |
|
Fifth finger distal phalanx clinodactyly, Inflammation of the large intestine, Finger syndactyly,... |
ORPHA:110 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Decreased circulating IgG level, Recurrent pneumonia, Absent natural killer cells, Lymphopenia, H... |
ORPHA:35078 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Severe short stature, Osteopenia, Gastroesophageal reflux, Rickets, Retrognathia, Osteomalacia, J... |
ORPHA:1901 |
Omenn Syndrome |
|
Pneumonia, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatomegaly, Eosinophilia... |
ORPHA:39041 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transamin... |
OMIM:618329 |
Meningococcal Meningitis |
|
Hypotension, Sepsis, Shock, Paresthesia, Skin rash, Infectious encephalitis, Anorexia, Elevated c... |
ORPHA:33475 |
Pancreatic Lipase Deficiency |
|
Steatorrhea, Hypocholesterolemia, Fat malabsorption |
OMIM:614338 |
Portal Hypertension, Noncirrhotic, 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Macrocytic dyserythropoietic anemia, Increased circulating lactate dehydrogenase concentration, E... |
OMIM:224120 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Tarsal synostosis, Microgna... |
OMIM:147891 |
Achondroplasia |
|
Rhizomelia, Neonatal short-limb short stature, Short femur, Radial bowing, Flared metaphysis, Rec... |
OMIM:100800 |
Familial Adenomatous Polyposis 3 |
|
Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal adenocarcinoma, Prostate c... |
OMIM:616415 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Inflammation of the large intestine, Lymphopenia, Overlapping fingers, Micrognathia, Knee flexion... |
OMIM:619708 |
Plague |
|
Inflammation of the large intestine, Diarrhea, Lymphadenitis, Ileitis, Arrhythmia, Arthralgia, Ac... |
ORPHA:707 |
Phoar2-Enteropathy Syndrome |
|
Hypoalbuminemia, Secretory diarrhea, Hyperostosis, Seborrheic dermatitis, Periostosis, Acne, Club... |
OMIM:614441 |
Diffuse Alveolar Hemorrhage |
|
Elevated circulating creatinine concentration, Leukocytosis, Pulmonary venous hypertension, Decre... |
ORPHA:90060 |
Proprotein Convertase 1/3 Deficiency |
|
Diarrhea, Elevated circulating proinsulin concentration, Obesity, Villous atrophy, Malabsorption,... |
OMIM:600955 |
Galloway-Mowat Syndrome 3 |
|
Hypoalbuminemia, Failure to thrive, Intrauterine growth retardation, Micrognathia, Hiatus hernia,... |
OMIM:617729 |
Hypermobile Ehlers-Danlos Syndrome |
|
High, narrow palate, Epistaxis, Gastroesophageal reflux, Chronic pain, Paresthesia, Nausea and vo... |
ORPHA:285 |
Kaposi Sarcoma |
|
Neoplasm of the skin, Diarrhea, Abnormality of the spleen, Abnormality of the liver, Skin rash, A... |
ORPHA:33276 |
Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Diarrhea, Elevated circulating hepatic transaminase concentration, Brain abscess, Abnormal lymph ... |
ORPHA:54251 |
Peripheral Primitive Neuroectodermal Tumor |
|
Precocious puberty, Neoplasm of the scrotum, Uterine neoplasm, Increased circulating lactate dehy... |
ORPHA:370348 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Severe short stature, Decreased circulating IgG level, Abnormal epiphysis morphology, Intrauterin... |
ORPHA:2643 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Anemia, Pericarditis |
ORPHA:163596 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Intestinal malrotation, Genu valgum, Cryptorchidism, Joint hypermobility, Gastrointestinal dysmot... |
OMIM:617798 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Monoclonal immunoglobulin M proteinemia, Lymphoma, Polyclonal elevation of IgM, Impaired lymphocy... |
OMIM:153600 |
Infantile Krabbe Disease |
|
Vomiting, Gastroesophageal reflux, Failure to thrive, Abnormal circulating enzyme concentration o... |
ORPHA:206436 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Bacterial endocarditis, Cholelithiasis, Hepatic fibrosis, Abnormality of the spleen, Hepatospleno... |
ORPHA:2072 |
Acute Lung Injury |
|
Pneumonia, Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis facto... |
ORPHA:178320 |
Immunodeficiency 96 |
|
Decreased circulating IgG level, Eczematoid dermatitis, Recurrent otitis media, Decreased circula... |
OMIM:619774 |
22Q11.2 Deletion Syndrome |
|
Carious teeth, Micrognathia, Cryptorchidism, Arachnodactyly, Talipes equinovarus, Feeding difficu... |
ORPHA:567 |
Takayasu Arteritis |
|
Vasculitis, Hypertensive crisis, Hypertrophic cardiomyopathy, Gastrointestinal infarctions, Cereb... |
ORPHA:3287 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto... |
OMIM:185000 |
Snakebite Envenomation |
|
Epistaxis, Hypotension, Neuromuscular dysphagia, Vomiting, Diarrhea, Cardiogenic shock, Pseudobul... |
ORPHA:449285 |
Vexas Syndrome |
|
Inflammatory abnormality of the skin, Arteritis, Neutrophilic infiltration of the skin, Macrocyti... |
OMIM:301054 |
Acute Interstitial Pneumonia |
|
Elevated circulating creatinine concentration, Reduced hematocrit, Cyanosis, Lymphadenopathy, Ele... |
ORPHA:79126 |
Melorheostosis With Osteopoikilosis |
|
Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Mult... |
ORPHA:1879 |
Mucolipidosis Ii Alpha/Beta |
|
Bullet-shaped phalanges of the hand, Hypoplastic scapulae, Hypoplasia of the odontoid process, Li... |
OMIM:252500 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Small hand, Lymphopenia, Micrognathia, Cryptorchidism, Elevated circulating alkaline phosphatase ... |
OMIM:620005 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Dyspha... |
ORPHA:64753 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Recurrent infections, Diarrhea, Failure to thrive, Exocrine pancreatic insuffi... |
OMIM:617941 |
Corticosteroid-Binding Globulin Deficiency |
|
Hypotension, Asthenia, Hypokalemia, Fatigue, Hypertension, Reduced circulating cortisol-binding g... |
OMIM:611489 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Hepatic failure, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Sepsis,... |
OMIM:614886 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hypotension, Diarrhea, Vomiting, Failure to thrive, Hyponatremia, Hyperkalemia, Feeding difficult... |
OMIM:177735 |
Weismann-Netter Syndrome |
|
Severe short stature, Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip b... |
ORPHA:3344 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Hypoglycinemia, Hyposerinemia, Vomiting, Gastroesophageal reflux, Failure to thrive, Umbilical he... |
ORPHA:79351 |
Griscelli Syndrome |
|
Bone marrow hypocellularity, Hepatitis, Abnormal circulating lipid concentration, Ascites, Leukop... |
ORPHA:381 |
Hermansky-Pudlak Syndrome 1 |
|
Hematochezia, Inflammation of the large intestine, Epistaxis, Cardiomyopathy, Ocular albinism, Co... |
OMIM:203300 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Bone Marrow Failure Syndrome 4 |
|
Bone marrow hypocellularity, Rhizomelia, Eczematoid dermatitis, Leukopenia, Thrombocytopenia, Ane... |
OMIM:618116 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Recurrent infections, Elevated circulating palmitoleylcarnitine concentration, Failure to thrive,... |
ORPHA:79284 |
Diamond-Blackfan Anemia 1 |
|
Persistence of hemoglobin F, Micrognathia, Neutropenia, Basal cell carcinoma, High palate, Hypopl... |
OMIM:105650 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, Myelodysplasia, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
19Q13.11 Microdeletion Syndrome |
|
Toe clinodactyly, Congenital hip dislocation, Toe syndactyly, Finger syndactyly, Failure to thriv... |
ORPHA:217346 |
Sézary Syndrome |
|
Abnormal lymphocyte morphology, Splenomegaly, Abnormal immunoglobulin level, Erythroderma, Lympha... |
ORPHA:3162 |
Fanconi-Bickel Syndrome |
|
Hypouricemia, Elevated gamma-glutamyltransferase level, Osteomalacia, Postnatal growth retardatio... |
OMIM:227810 |
X-Linked Severe Congenital Neutropenia |
|
Recurrent bacterial infections |
ORPHA:86788 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Rhizomelia, Micromelia, Micrognathia, Femoral bowing, Dumbbell-shaped long ... |
ORPHA:440354 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Gastroesophageal reflux, Eczematoid dermatitis, Failure to thrive, Recurrent urinary tract infect... |
OMIM:617157 |
Staphylococcal Necrotizing Pneumonia |
|
Pneumonia, Hypotension, Sepsis, Shivering, Shock, Chest pain, Gangrene, Severe infection, Acute i... |
ORPHA:36238 |
Hypoplastic Femurs And Pelvis |
|
Hypoplastic pelvis, Short femur |
OMIM:619545 |
Apolipoprotein C-Ii Deficiency |
|
Increased circulating chylomicron concentration, Splenomegaly, Hypercholesterolemia, Decreased ci... |
OMIM:207750 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Orofaciodigital Syndrome Vi |
|
Toe syndactyly, Clinodactyly, Fibular aplasia, Micrognathia, High palate, Preaxial hand polydacty... |
OMIM:277170 |
Lowe Oculocerebrorenal Syndrome |
|
Joint contracture of the hand, Finger swelling, Osteomalacia, Postnatal growth retardation, Genu ... |
OMIM:309000 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diarrhea, Congestive heart failure, Paroxysmal atrial tachycardia, Megaloblastic anemia, Thromboc... |
ORPHA:49827 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Anemia, Hepatomegaly, Interstitial pneumonitis, Splenomegaly |
OMIM:620296 |
Cowden Syndrome 1 |
|
Lymphopenia, Micrognathia, Ovarian cyst, High palate, Carcinoma, Thyroid adenoma, Hypoplasia of t... |
OMIM:158350 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Recurrent bacterial infections |
OMIM:610738 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Decreased circulating parathyroid hormone level, Increased circulating beta-C-terminal telopeptid... |
ORPHA:157215 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Hepatitis, Interstitial pneumonitis, Skin rash, Infectious encephalitis, Pustule, Eosinophilia, L... |
ORPHA:139402 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hypotension, Diarrhea, Vomiting, Failure to thrive, Hyponatremia, Feeding difficulties in infancy... |
OMIM:264350 |
Chédiak-Higashi Syndrome |
|
Periodontitis, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Jaundice, Recurre... |
ORPHA:167 |
Galloway-Mowat Syndrome 1 |
|
Hypoalbuminemia, Hand clenching, Joint contracture of the hand, Slender finger, Intrauterine grow... |
OMIM:251300 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Elevated circulating creatinine concentration, Postnatal growth retardation, Intrauterine growth ... |
OMIM:616733 |
Systemic Sclerosis |
|
Intestinal bleeding, Finger swelling, Telangiectasia, Glomerulonephritis, Recurrent skin infectio... |
ORPHA:90291 |
Tempi Syndrome |
|
Polycythemia, Increased hematocrit, Telangiectasia, Hemangioma, Increased circulating IgG level, ... |
ORPHA:284227 |
Galactose Epimerase Deficiency |
|
Aminoaciduria, Nausea and vomiting, Splenomegaly, Weight loss, Hepatomegaly, Jaundice, Growth del... |
ORPHA:79238 |
Q Fever |
|
Hepatosplenomegaly, Increased circulating antibody level, Weight loss, Anorexia, Hepatomegaly, Me... |
ORPHA:781 |
Fibronectin Glomerulopathy |
|
Hypoalbuminemia, Hypertension, Pedal edema, Cerebral hemorrhage |
ORPHA:84090 |
Aceruloplasminemia |
|
Decreased circulating iron concentration, Increased circulating ferritin concentration, Acerulopl... |
OMIM:604290 |
Reactive Arthritis |
|
Aortic regurgitation, Inflammation of the large intestine, Diarrhea, Recurrent urinary tract infe... |
ORPHA:29207 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Pneumonia, Cutaneous anergy, Recurrent upper respiratory tract infections, Failure to thrive, Dec... |
OMIM:600802 |
Diamond-Blackfan Anemia 11 |
|
Finger aplasia, Bone marrow hypocellularity, Absent thumb, Unilateral radial aplasia, Anemia of i... |
OMIM:614900 |
X-Linked Intellectual Disability, Cabezas Type |
|
Small hand, Toe syndactyly, Sandal gap, Camptodactyly of finger, Hypogonadism, Decreased testicul... |
ORPHA:85293 |
Thrombocytopenia-Absent Radius Syndrome |
|
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Hepatosplenomegaly, Facial capi... |
OMIM:274000 |
Thanatophoric Dysplasia Type 1 |
|
Hypoplastic ilia, Micromelia, Lethal short-limbed short stature, Joint stiffness, Femoral bowing,... |
ORPHA:1860 |
Congenital Disorder Of Glycosylation, Type Iiaa |
|
Persistent patent ductus venosus, Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperpl... |
OMIM:620454 |
Occipital Horn Syndrome |
|
Synostosis of joints, Osteomalacia, Cholestasis, Humerus varus, Esophagitis, Genu valgum, Pes pla... |
ORPHA:198 |
Congenital Syphilis |
|
Diarrhea, Extramedullary hematopoiesis, Hyperplasia of the maxilla, Hepatosplenomegaly, Large pla... |
ORPHA:499009 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Anteriorly placed anus, Abnormal rectum morphology, Feeding difficulties, Aganglionic megacolon, ... |
OMIM:239300 |
Sheehan Syndrome |
|
Central adrenal insufficiency, Decreased serum estradiol, Breast hypoplasia, Obesity, Palpitation... |
ORPHA:91355 |
Tropical Endomyocardial Fibrosis |
|
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... |
ORPHA:75565 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Elevated circulating hepatic transaminase concentration, Exocrine pancreatic insufficiency, Abnor... |
OMIM:618752 |
Xfe Progeroid Syndrome |
|
Hypoalbuminemia, Severe short stature, Elevated circulating hepatic transaminase concentration, F... |
OMIM:610965 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Atopic dermatitis, Hypovolemic shock, Vomiting, Cholelithiasis, Recurrent tonsillitis, Abnormal c... |
ORPHA:171876 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Aortic regurgitation, Small hand, Dilated cardiomyopathy, Type II diabetes mellitus, Short clavic... |
ORPHA:401923 |
Stickler Syndrome |
|
Slender build, Micrognathia, Genu valgum, Arachnodactyly, Short hard palate, Feeding difficulties... |
ORPHA:828 |
Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Abnormal foot morphology, Upper limb undergrowth, Aplasia/hy... |
ORPHA:75508 |
Dent Disease 1 |
|
Delayed epiphyseal ossification, Aminoaciduria, Rickets, Glycosuria, Bulging epiphyses, Osteomala... |
OMIM:300009 |
Li-Fraumeni Syndrome |
|
Choriocarcinoma, Stomach cancer, Melanoma, Neoplasm of the rectum, Hodgkin lymphoma, Acute myeloi... |
ORPHA:524 |
Caroli Disease |
|
Elevated gamma-glutamyltransferase level, Cholestasis, Elevated circulating alkaline phosphatase ... |
ORPHA:53035 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hypertrophic cardiomyopathy, Hypocholesterolemia, Micrognathia, Feeding difficulties in infancy, ... |
OMIM:618810 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Rheumatoid arthritis, Budd-Chiari syndrome, Elevated circulating creatinine co... |
ORPHA:49041 |
Rheumatoid Arthritis |
|
Vasculitis, Rheumatoid arthritis, Weight loss, Arthralgia, Fatigue, Elevated circulating C-reacti... |
OMIM:180300 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Abnormal circulating eicosanoid concentration, Decreased serum thromboxane B2, Decreased circulat... |
OMIM:618372 |
Steinert Myotonic Dystrophy |
|
Neoplasm of the skin, Diarrhea, Intestinal pseudo-obstruction, Oral-pharyngeal dysphagia, Hyperin... |
ORPHA:273 |
Hemochromatosis, Type 5 |
|
Abnormal circulating copper concentration, Increased circulating iron concentration, Abnormal cir... |
OMIM:615517 |
Trichinellosis |
|
Increased circulating IgE level, Skin rash, Nausea, Meningitis, Trismus, Retinal hemorrhage, Conj... |
ORPHA:863 |
Granulomatous Disease, Chronic, X-Linked |
|
Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Eczemato... |
OMIM:306400 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Hypophosphatemic ricke... |
OMIM:300554 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia, Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia, Cyanosis |
OMIM:617973 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Hypogonadism, Pes cavus, Macrocytic anemia, Hypothyroidism, Dysphagia, Feeding difficulties, Diab... |
ORPHA:98673 |
Immunodeficiency, Common Variable, 10 |
|
Decreased circulating IgG level, Recurrent pneumonia, Hypoglycemia, Frequent Giardia lamblia infe... |
OMIM:615577 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Clavicu... |
ORPHA:2790 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Pneumonia, Reduced natural killer cell count, Diarrhea, Failure to thrive, Decreased circulating ... |
OMIM:242860 |
Caffey Disease |
|
Cortical irregularity, Periosteal thickening of long tubular bones, Increased circulating antibod... |
ORPHA:1310 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Cirrhosis, Hepatomegaly, Gastrointestinal hemorrhage, Hypertrophic cardiom... |
OMIM:276700 |
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Folate-unresponsive megaloblastic anemia, Diarrhea, Abnormal erythrocyte morphology, Micrognathia... |
ORPHA:2575 |
Neuroblastoma |
|
Elevated circulating catecholamine level, Increased circulating lactate dehydrogenase concentrati... |
ORPHA:635 |
Hardikar Syndrome |
|
Portal inflammation, Cholestasis, Hepatosplenomegaly, Cleft soft palate, Hypersplenism, Hyperbili... |
OMIM:301068 |
Wolfram Syndrome 1 |
|
Growth delay, Limited mobility of proximal interphalangeal joint, Cardiomyopathy, Sideroblastic a... |
OMIM:222300 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Decreased circulating complement factor B concentration, Diarrhea, Microangiopathic hemolytic ane... |
OMIM:235400 |
Glutamate Formiminotransferase Deficiency |
|
Aminoaciduria, Hypersegmentation of neutrophil nuclei, Positive ferric chloride test, Megaloblast... |
OMIM:229100 |
Fg Syndrome Type 1 |
|
Finger syndactyly, Clinodactyly of the 2nd finger, Slender build, Micrognathia, Cryptorchidism, P... |
ORPHA:93932 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... |
OMIM:608203 |
Pneumocystosis |
|
Pneumocystis jirovecii pneumonia, Increased circulating lactate dehydrogenase concentration, Neop... |
ORPHA:723 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphoma, Splenomegaly, B-cell lymphoma, Weight loss, Lymphadenopathy, Anorexia, Hepatomegaly, Br... |
ORPHA:86893 |
Hyperostosis Corticalis Generalisata |
|
Cranial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Diaphyseal u... |
ORPHA:3416 |
Gitelman Syndrome |
|
Hypotension, Vomiting, Failure to thrive, Hypomagnesemia, Paresthesia, Palpitations, Hypokalemia,... |
OMIM:263800 |
Lysinuric Protein Intolerance |
|
Diarrhea, Hemophagocytosis, Pulmonary hemorrhage, Protein avoidance, Hepatomegaly, Hypolysinemia,... |
OMIM:222700 |
Imerslund-Gräsbeck Syndrome |
|
Anisopoikilocytosis, Vomiting, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancyto... |
ORPHA:35858 |
Panhypophysitis |
|
Increased circulating prolactin concentration, Abnormal posterior pituitary morphogenesis, Decrea... |
ORPHA:95513 |
Immunodeficiency 86 |
|
Decreased circulating IgG level, Impaired oxidative burst, BCGitis, Increased circulating IgM level |
OMIM:619549 |
Zika Virus Disease |
|
Myelitis, Vomiting, Ankle swelling, Intrauterine growth retardation, Skin rash, Maculopapular exa... |
ORPHA:448237 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Hypoalbuminemia, Thrombocytopenia, Dysphagia, Normochromic anemia |
OMIM:254900 |
Familial Glucocorticoid Deficiency |
|
Leydig cell neoplasia, Hypotension, Diarrhea, Vomiting, Failure to thrive, Recurrent urinary trac... |
ORPHA:361 |
Birk-Aharoni Syndrome |
|
Absent patellar reflexes, Failure to thrive, Micrognathia, Cryptorchidism, Macrocytic anemia, Tub... |
OMIM:620071 |
Polycythemia Vera |
|
Early satiety, Epistaxis, Acute leukemia, Gastrointestinal hemorrhage, Pulmonary embolism, Polycy... |
ORPHA:729 |
Necrotizing Enterocolitis |
|
Hypotension, Diarrhea, Vomiting, Small for gestational age, Hypoactive bowel sounds, Shock, Brady... |
ORPHA:391673 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Aminoaciduria, Joint contracture of the hand, Elevated circulating long chain fatty acid concentr... |
OMIM:214110 |
Alstrom Syndrome |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Hepatic steatosis, Pes plan... |
OMIM:203800 |
Juvenile Dermatomyositis |
|
Arrhythmia, Weight loss, Arthralgia, Calcinosis, Elevated circulating C-reactive protein concentr... |
ORPHA:93672 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Vasculitis, Diarrhea, Failure to thrive in infancy, Leukocytosis, Panniculitis, Chronic diarrhea,... |
OMIM:617099 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Recurrent pneumonia, Hypotension, Recurrent viral infections, Failure to thrive, Recurrent upper ... |
ORPHA:293978 |
Trisomy 18 |
|
Microretrognathia, Deviation of finger, Growth delay, Camptodactyly of finger, Abnormal hip bone ... |
ORPHA:3380 |
Adenohypophysitis |
|
Secondary growth hormone deficiency, Decreased serum estradiol, Adrenocorticotropin deficient adr... |
ORPHA:95512 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Bifid uvula, Broad distal phalanx of finger, Delayed eruption of teeth, Micrognathia, Elliptocyto... |
OMIM:300990 |
Wilson Disease |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Failure to thrive, Acute hepa... |
ORPHA:905 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Cholelithiasis, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Elevated circulatin... |
OMIM:618775 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Hyperparathyroidism, Coarse metaphyseal trabecularization, Osteomalacia, Abnormal hip bone morpho... |
ORPHA:93160 |
Phosphoglycerate Dehydrogenase Deficiency |
|
Decreased testicular size, Megaloblastic anemia, Adducted thumb, Thrombocytopenia, Reduced 3-phos... |
OMIM:601815 |
Nipah Virus Disease |
|
Hypotension, Myalgia, Nausea and vomiting, Infectious encephalitis, Recurrent pharyngitis, Fatigu... |
ORPHA:99825 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Gastroesophageal reflux, Volvulus, Recurrent urinary tract infections, Joint stiffness, Clinodact... |
ORPHA:847 |
Sclerosteosis |
|
Craniofacial hyperostosis, Finger syndactyly, Curved distal phalanges of the hand, Abnormal corti... |
ORPHA:3152 |
Metatropic Dysplasia |
|
Severe short stature, Coarse metaphyseal trabecularization, Abnormal enchondral ossification, Hyp... |
ORPHA:2635 |
Dyskeratosis Congenita, Digenic |
|
Decreased circulating IgG level, Basal cell carcinoma, Gastroesophageal reflux, Oral leukoplakia,... |
OMIM:620040 |
Anemia, Sideroblastic, 1 |
|
Sideroblastic anemia, Hypochromic microcytic anemia, Anemia of inadequate production, Macrocytic ... |
OMIM:300751 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Rhizomelia, Short iliac bones, Supernumerary nipple, Elevated circulating creatinine concentratio... |
OMIM:614376 |
Erythrocytosis, Familial, 1 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... |
OMIM:133100 |
Trichothiodystrophy |
|
Carious teeth, Cryptorchidism, Neutropenia, Clubbing, High, narrow palate, Osteopenia, Eczematoid... |
ORPHA:33364 |
Hypercholesterolemia, Familial, 4 |
|
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:603813 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:300946 |
Neuroleptic Malignant Syndrome |
|
Hyperphosphatemia, Aspiration pneumonia, Arrhythmia, Urinary incontinence, Tachycardia, Hyperkale... |
ORPHA:94093 |
Transcobalamin Deficiency |
|
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Pancytopenia, Neut... |
ORPHA:859 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteomyelitis, Splenomegaly, Abscess, Skin rash, Pustule, Hepatomegaly, Neutrophilia, Elevated ci... |
OMIM:612852 |
Dopamine Beta-Hydroxylase Deficiency |
|
Orthostatic syncope, Insulin resistance, Vomiting, Diarrhea, Hypoglycemia, Abnormal EKG, Elevated... |
ORPHA:230 |
Glycogen Storage Disease Iv |
|
Hepatic failure, Failure to thrive, Cardiomyopathy, Abnormal circulating creatine kinase concentr... |
OMIM:232500 |
Lynch Syndrome |
|
Neoplasm of the skin, Colon cancer, Nausea and vomiting, Neoplasm of the skeletal system, Neoplas... |
ORPHA:144 |
Chronic Granulomatous Disease |
|
Eczematoid dermatitis, Splenomegaly, Otitis media, Hepatomegaly, Sinusitis, Inflammatory abnormal... |
ORPHA:379 |
Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular prognathia, Mandibular osteomyelitis, Carious teeth, Extramedullary hematopoiesis, Cra... |
OMIM:259710 |
Hypocomplementemic Urticarial Vasculitis |
|
Diarrhea, Conjunctivitis, Nausea and vomiting, Episcleritis, Skin rash, Inflammatory abnormality ... |
ORPHA:36412 |
Kenny-Caffey Syndrome, Type 1 |
|
Small hand, Carious teeth, Slender long bone, Hypomagnesemia, Intrauterine growth retardation, Hy... |
OMIM:244460 |
8Q24.3 Microdeletion Syndrome |
|
Ectopic posterior pituitary, Infancy onset short-trunk short stature, Branchial cyst, Talipes, Fe... |
ORPHA:508488 |
X-Linked Hypophosphatemia |
|
Limitation of joint mobility, Genu valgum, Elevated circulating alkaline phosphatase concentratio... |
ORPHA:89936 |
Dent Disease |
|
Delayed epiphyseal ossification, Renal hypophosphatemia, Enlargement of the ankles, Aminoaciduria... |
ORPHA:1652 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Vasculitis, Gastrointestinal hemorrhage, Diarrhea, Limitation of joint mobility, Growth delay, Re... |
ORPHA:343 |
Multiple Endocrine Neoplasia Type 1 |
|
Increased serum serotonin, Diarrhea, Increased circulating cortisol level, Pituitary prolactin ce... |
ORPHA:652 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Abnormal circulating copper concentration, Short tibia, Abnormal circulating ceruloplasmin concen... |
OMIM:620306 |
Bile Acid Conjugation Defect 1 |
|
Hepatic failure, Rickets, Elevated circulating aspartate aminotransferase concentration, Elevated... |
OMIM:619232 |
Good Syndrome |
|
Thymoma, Mediastinal lymphadenopathy, Diarrhea, Aplasia/Hypoplasia of the thymus, Recurrent urina... |
ORPHA:169105 |
Thrombocytopenia 1 |
|
Decreased mean platelet volume, Epistaxis, Eczematoid dermatitis, Increased circulating IgE level... |
OMIM:313900 |
Hereditary Spherocytosis |
|
Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration... |
ORPHA:822 |
Trichothiodystrophy 6, Nonphotosensitive |
|
Coronal craniosynostosis, Pes cavus, Mild intrauterine growth retardation, Increased HbA2 hemoglo... |
OMIM:616943 |
Neuroendocrine Tumor Of The Rectum |
|
Hematochezia, Melena, Lack of bowel sounds, Right ventricular failure, Hypotension, Tenesmus, Hyp... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Hematochezia, Melena, Lack of bowel sounds, Right ventricular failure, Hypotension, Tenesmus, Hyp... |
ORPHA:100082 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Pancytopenia, Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Jaundice, Dysphagia, In... |
ORPHA:447 |
Pyle Disease |
|
Mandibular prognathia, Carious teeth, Absent paranasal sinuses, Delayed eruption of teeth, Persis... |
OMIM:265900 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine, Episodic vom... |
OMIM:612736 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Small cell lung carcinoma, Malignant gastrointestinal tract tumors, Diarrhea, Increased circulati... |
ORPHA:99889 |
Pmm2-Cdg |
|
Increased circulating prolactin concentration, Aspiration pneumonia, Hyperinsulinemia, Aplasia of... |
ORPHA:79318 |
Kikuchi-Fujimoto Disease |
|
Abnormal lymph node morphology, Pustule, Weight loss, Neutropenia, Anorexia, Hepatomegaly, Elevat... |
ORPHA:50918 |
Cystinosis, Nephropathic |
|
Decreased circulating carnitine concentration, Genu valgum, Hypophosphatemia, Weight loss, Hepato... |
OMIM:219800 |
Neuroendocrine Tumor Of The Colon |
|
Melena, Lack of bowel sounds, Right ventricular failure, Hypotension, Hypoactive bowel sounds, Pr... |
ORPHA:100080 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Hypoalbuminemia, Aminoaciduria, Failure to thrive, Hypoglycemia, Intrauterine growth retardation,... |
OMIM:619055 |
Osteogenesis Imperfecta, Type Xxii |
|
Dentinogenesis imperfecta, Slender long bone, Abnormal blood phosphate concentration, Decreased c... |
OMIM:619795 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Diarrhea, Failure to thrive, Impaired T cell function, Recurrent candida infections, Hypogonadism... |
OMIM:201100 |
Oculogastrointestinal Muscular Dystrophy |
|
Intestinal pseudo-obstruction, Gastroparesis, Malabsorption, Abnormal gastric mucosa morphology, ... |
ORPHA:1876 |
Pearson Syndrome |
|
Postnatal growth retardation, Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Hep... |
ORPHA:699 |
Hirschsprung Disease |
|
Diarrhea, Sepsis, Failure to thrive in infancy, Functional abnormality of the gastrointestinal tr... |
ORPHA:388 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Microretrognathia, Cachexia, Postaxial hand polydactyly, Short stature, Recurrent respiratory inf... |
ORPHA:1389 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c... |
OMIM:617156 |
Hypermanganesemia With Dystonia 1 |
|
Elevated circulating hepatic transaminase concentration, Polycythemia, Decreased liver function, ... |
OMIM:613280 |
Infant Botulism |
|
Hypotension, Mydriasis, Xerostomia, Hyponatremia, Hypertension, Keratoconjunctivitis sicca, Const... |
ORPHA:178478 |
Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia, Minimal change glomerulonephritis |
OMIM:614196 |
Rett Syndrome |
|
Gastroesophageal reflux, Abnormal T-wave, Cachexia, Constipation, Short stature, Short foot, Prol... |
OMIM:312750 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Splenomegaly, Autoimmune hemolytic anemia, Myositis, Lymphadenopathy, Hepatomegaly, Panniculitis |
OMIM:619183 |
Gm1-Gangliosidosis, Type Ii |
|
Failure to thrive, Sea-blue histiocytosis, Joint stiffness, Protruding tongue, Splenomegaly, Decr... |
OMIM:230600 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Cryptorchidism, Fibular hypoplasia, ... |
OMIM:612447 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Foot oligodactyly, Amelia, Anterior encephalocele, Bilateral cleft palate, Short femur |
OMIM:601357 |
Rh Deficiency Syndrome |
|
Stomatocytosis, Increased circulating lactate dehydrogenase concentration, Hepatosplenomegaly, Hy... |
ORPHA:71275 |
Pituitary Apoplexy |
|
Hypotension, Pituitary adenoma, Increased circulating cortisol level, Hypoglycemia, Increased cir... |
ORPHA:95613 |
Fish-Eye Disease |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Decreased HDL cholesterol concentration |
ORPHA:79292 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Hyperammonemia |
ORPHA:664 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Hepatic steatosis, Cirrhosis, Hepatomegaly, Tube feeding, High palate, Neonatal hypoglycemia, Fai... |
OMIM:619418 |
Coffin-Lowry Syndrome |
|
Mitral regurgitation, Decreased body weight, High palate, Short stature, Narrow palate, Rectal pr... |
OMIM:303600 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Megaloblastic anemia, Neutropenia, Thrombocytopenia, Diabetes insipidus, Di... |
OMIM:598500 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Chorea, Esophagitis, Intrauterine growth retardation, Myalgia, Elevated circulating creatine kina... |
OMIM:615356 |
Hyper-Igd Syndrome |
|
Recurrent infections, Diarrhea, Lymphadenitis, Vomiting, Molluscum contagiosum, Hepatosplenomegal... |
OMIM:260920 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Posterior uveitis, Nongranulomatous uveitis, Panuveitis, Aminoaciduria, Elevat... |
ORPHA:91500 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Nausea and vomiting, Intestinal obstruction, Weight loss, Tubulointerstitial nephritis, Abdominal... |
ORPHA:183 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Pancytopenia, Splenomegaly |
OMIM:614979 |
Elliptocytosis 1 |
|
Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis |
OMIM:611804 |
Osteogenesis Imperfecta |
|
Carious teeth, Abnormal tibia morphology, Micrognathia, Genu valgum, Intestinal obstruction, Decr... |
ORPHA:666 |
Juvenile Polyposis Syndrome |
|
Diarrhea, Stomach cancer, Juvenile gastrointestinal polyposis, Multiple lipomas, Small intestinal... |
ORPHA:2929 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Elevated gamma-glutamyltransferase level, Hyperbilirubinemia, Hyperthreoninemia, Elevated circula... |
OMIM:605814 |
Erythrokeratodermia Variabilis |
|
Neoplasm of the skin, Patchy palmoplantar hyperkeratosis, Skin rash, Weight loss, Brachydactyly, ... |
ORPHA:317 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Recurrent pneumonia, Gastroesophageal reflux, Recurrent upper respiratory tract infections, Persi... |
OMIM:619769 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Diarrhea, Recurrent hypoglycemia, Lipid accumulation in hepatocytes, Weight loss, Anorexia, Hepat... |
ORPHA:20 |
Sickle Cell Disease |
|
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg... |
OMIM:603903 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Xanthelasma, Increased LDL cholesterol concentration, Go... |
ORPHA:412 |
Thymic Neuroendocrine Tumor |
|
Osteopenia, Mediastinal lymphadenopathy, Pituitary adenoma, Neuroendocrine neoplasm, Pituitary pr... |
ORPHA:97289 |
Familial Hypoaldosteronism |
|
Hypotension, Diarrhea, Failure to thrive, Nausea and vomiting, Hyponatremia, Hypovolemia, Orthost... |
ORPHA:427 |
Say-Barber-Miller Syndrome |
|
Carious teeth, Micrognathia, Cryptorchidism, Impaired neutrophil chemotaxis, Erythema nodosum, Hi... |
ORPHA:3132 |
Pelizaeus-Merzbacher Disease |
|
Failure to thrive in infancy, Joint stiffness, Cachexia, Short stature, Recurrent respiratory inf... |
ORPHA:702 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Inflammatory abnormality of the skin, Arrhythmia, He... |
ORPHA:26793 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Malabsorption, Abnormal metaphysis morphology, Agammaglobulinemia, Aganglionic megac... |
ORPHA:935 |
Diffuse Cutaneous Mastocytosis |
|
Abnormality of the spleen, Abnormality of the liver, Lymphocytosis, Erythroderma, Lymphadenopathy... |
ORPHA:79456 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Upper-limb joint contracture, Gastrostomy tube feeding in infancy, Cachexia, Lower-limb joint con... |
ORPHA:300605 |
Pfapa Syndrome |
|
Malabsorption, Nausea and vomiting, Splenomegaly, Infectious encephalitis, Weight loss, Lymphaden... |
ORPHA:42642 |
Johanson-Blizzard Syndrome |
|
Failure to thrive, Anteriorly placed anus, Delayed eruption of teeth, Exocrine pancreatic insuffi... |
ORPHA:2315 |
Multifocal Atrial Tachycardia |
|
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... |
ORPHA:3282 |
Formiminoglutamic Aciduria |
|
Anemia, Abnormal circulating histidine concentration, Megaloblastic anemia, Abnormal circulating ... |
ORPHA:51208 |
Myopathy With Lactic Acidosis, Hereditary |
|
Sideroblastic anemia, Leukopenia, Palpitations, Elevated circulating creatine kinase concentratio... |
OMIM:255125 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia, Minimal change glomerulonephritis, Peritonitis, Abdominal pain |
ORPHA:656 |
Dermatomyositis |
|
Abnormal eosinophil morphology, Lung adenocarcinoma, Feeding difficulties in infancy, Arrhythmia,... |
ORPHA:221 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Hypotension, Dilated cardiomyopathy, Tricuspid regurgitation, Myalgia, Mitral regurgitation, Hype... |
OMIM:620300 |
Intestinal Dysmotility Syndrome |
|
Diarrhea, Decreased intestinal transit time, Failure to thrive, Projectile vomiting, Pes valgus, ... |
OMIM:620045 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Dilated cardiomyopathy, Pulmonary embolism, Subdural hemorrhage, Hypoglycemia, Elevated circulati... |
ORPHA:79282 |
Igg4-Related Thyroid Disease |
|
Graves disease, Euthyroid goiter, Goiter, Increased circulating IgG4 level, Sialadenitis, Hypocal... |
ORPHA:64744 |
Zollinger-Ellison Syndrome |
|
Diarrhea, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urina... |
ORPHA:913 |
Sandifer Syndrome |
|
Gastroesophageal reflux, Esophagitis, Hiatus hernia, Hematemesis, Episodic vomiting, Feeding diff... |
ORPHA:71272 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hypotension, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Tachycardia, ... |
OMIM:145600 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased circulating IgG level, Diarrhea, Failure to thrive, Recurrent respiratory infections, H... |
OMIM:618278 |
Lujo Hemorrhagic Fever |
|
Abdominal cramps, Vomiting, Diarrhea, Hypotension, Subconjunctival hemorrhage, Severe viral infec... |
ORPHA:319213 |
Femoral-Facial Syndrome |
|
Toe syndactyly, Micrognathia, Humeroradial synostosis, Cryptorchidism, Limited elbow movement, En... |
OMIM:134780 |
Hypomagnesemia 3, Renal |
|
Hyperphosphatemia, Genu valgum, Elevated circulating alkaline phosphatase concentration, Hypomatu... |
OMIM:248250 |
Granulomatosis With Polyangiitis |
|
Nausea and vomiting, Intestinal obstruction, Prostatitis, Arrhythmia, Weight loss, Elevated circu... |
ORPHA:900 |
Fetal Cytomegalovirus Syndrome |
|
Hepatitis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Jaundice, Conjugated hyperbiliru... |
ORPHA:294 |
Osteopetrosis With Renal Tubular Acidosis |
|
Pancytopenia, Micrognathia, Elliptocytosis, Hepatomegaly, High palate, Secondary hyperparathyroid... |
ORPHA:2785 |
Pelviscapular Dysplasia |
|
Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Elbow flexion contracture, Me... |
ORPHA:93333 |
Cutaneous Mastocytoma |
|
Hypotension, Vomiting, Diarrhea, Telangiectasia macularis eruptiva perstans, Nausea, Telangiectas... |
ORPHA:79455 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Ascites, Splenomegaly, Increased ... |
OMIM:602347 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypoalbuminemia, Obesity, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Spherocytosis, Splenomegaly |
ORPHA:66518 |
Non-Functioning Pituitary Adenoma |
|
Hypopituitarism, Central adrenal insufficiency, Nausea and vomiting, Anemia of inadequate product... |
ORPHA:91349 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Type I diabetes mellitus, Vomiting, Diarrhea, Rickets, Failure to thrive, Hepatomegaly, Osteoporosis |
OMIM:560000 |
Marfan Syndrome |
|
Slender build, Micrognathia, Mitral regurgitation, Limited elbow movement, Arachnodactyly, Cachex... |
ORPHA:558 |
Familial Pancreatic Carcinoma |
|
Peritoneal abscess, Intestinal pseudo-obstruction, Hepatosplenomegaly, Nausea and vomiting, Melan... |
ORPHA:1333 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Iron Overload, Susceptibility To |
|
Increased circulating ferritin concentration, Type II diabetes mellitus, Elevated hepatic iron co... |
OMIM:620121 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Bifid uvula, Micrognathia, Macrocytic anemia, Short stature, Granulocytopenia, Cleft palate, Feed... |
OMIM:606164 |
Digeorge Syndrome |
|
Recurrent otitis media, Micrognathia, Hepatic steatosis, Ovarian cyst, Patellar dislocation, High... |
OMIM:188400 |
Immunodeficiency 17 |
|
Abnormal B cell morphology, Anoperineal fistula, Eczematoid dermatitis, Failure to thrive, Chroni... |
OMIM:615607 |
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form |
|
Hyposerinemia, Gastroesophageal reflux, Postnatal growth retardation, Esophagitis, Feeding diffic... |
ORPHA:79350 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Increased circulating prolactin concentration, Aspiration pneumonia, Feeding difficulties, Crypto... |
ORPHA:438213 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Malabsorption, Duodenal ulcer, Cachexia, Brachydactyly, Steatorrhea, Chronic diarrhea, Short palm |
ORPHA:3217 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Increased circulating iron concentration, Erythroid hyperplasia, Elevated hepatic iron concentrat... |
OMIM:206100 |
Multiple Endocrine Neoplasia Type 4 |
|
Diarrhea, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urina... |
ORPHA:276152 |
Whim Syndrome |
|
Pneumonia, Recurrent upper respiratory tract infections, Sepsis, Recurrent pneumonia, Lymphadenit... |
ORPHA:51636 |
Scleromyxedema |
|
Gastroesophageal reflux, Paraproteinemia, Transient ischemic attack, Elevated circulating creatin... |
ORPHA:167635 |
Gaucher Disease Type 3 |
|
Pancytopenia, Splenomegaly, Increased susceptibility to fractures, Increased circulating antibody... |
ORPHA:77261 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Hypomagnesemia, Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Tal... |
OMIM:619743 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypotension, Atrioventricular block, Cardiomyopathy, Hyperammonemia, Elevated circulating creatin... |
OMIM:212138 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Anorectal abscess |
OMIM:620534 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Glycogen Storage Disease Ia |
|
Elevated circulating hepatic transaminase concentration, Growth delay, Hypoglycemia, Xanthelasma,... |
OMIM:232200 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypouricemia, Aminoaciduria, Elevated circulating hepatic transaminase concentration, Rickets, Gl... |
OMIM:616026 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia |
ORPHA:517 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... |
OMIM:619849 |
Familial Benign Copper Deficiency |
|
Short stature, Diaphyseal undertubulation, Anemia, Decreased circulating copper concentration, Acne |
ORPHA:1551 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Limitation of joint mobility, Finger syndactyly, Ectrodactyly, P... |
ORPHA:3329 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Cyanosis, Methemoglobinemia, Hepatomegaly, Anemia, Jaundice |
OMIM:613977 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Vomiting, Rickets, Failure to thrive, Hypokalemia, Growth delay |
OMIM:602722 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Bone marrow hypocellularity, Intestinal bleeding, Osteopenia, Oral leukoplakia, Pathologic fractu... |
OMIM:612199 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Bone marrow hypocellularity, Carious teeth, Aplastic anemia, Increased mean corpuscular volume, O... |
OMIM:127550 |
Icf Syndrome |
|
Recurrent respiratory infections, Umbilical hernia, Lymphopenia, Malabsorption, Micrognathia, Pro... |
ORPHA:2268 |
Coach Syndrome 2 |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Portal fibrosis, Eleva... |
OMIM:619111 |
Trichothiodystrophy 1, Photosensitive |
|
Decreased circulating IgG level, Retrognathia, Hypogonadism, Malabsorption, Intestinal obstructio... |
OMIM:601675 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatic fibrosis, Hepatic failure, Cholelithiasis, Elevated circulating hepatic transaminase conc... |
ORPHA:567983 |
Poliomyelitis |
|
Hypovolemic shock, Myelitis, Vomiting, Hypotension, Exercise intolerance, Impairment of activitie... |
ORPHA:2912 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hypoalbuminemia, Minimal change glomerulonephritis, Pulmonary embolism, Reduced circulating compl... |
ORPHA:567546 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Splenomegaly, Increased total bilirubin |
ORPHA:90037 |
Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Rickets, Glycosuria, Elevated circulating creatinine concentration, Short stature,... |
OMIM:615605 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Hypotension, Diarrhea, Gastroesophageal reflux, Failure to thrive, Constipation, Short stature, D... |
ORPHA:35708 |
Grfoma |
|
Diarrhea, Increased circulating cortisol level, Increased circulating prolactin concentration, Na... |
ORPHA:97261 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Preaxial hand polydactyly, Thyroid carcinoma, Intestinal polyposis, Hepatic steatosis, Multiple l... |
ORPHA:210548 |
Grant Syndrome |
|
Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Micrognathia, Abnormal ... |
ORPHA:2097 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Peritoneal abscess, Type I diabetes mellitus, Abdominal distention, Jejunoileal ulceration, Hepat... |
ORPHA:436252 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Diarrhea, Decreased circulating carnitine concentrat... |
ORPHA:71212 |
Parathyroid Carcinoma |
|
Shortened QT interval, Abnormal parathyroid morphology, Nausea and vomiting, Hypophosphatemia, We... |
ORPHA:143 |
Lipodystrophy, Familial Partial, Type 2 |
|
Acute pancreatitis, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration,... |
OMIM:151660 |
Frontometaphyseal Dysplasia 2 |
|
Broad thumb, Cryptorchidism, Hip contracture, Talipes equinovarus, Feeding difficulties in infanc... |
OMIM:617137 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Mandibular prognathia, Elevated circulating hepatic transaminase concentration, Umbilical hernia,... |
OMIM:269700 |
Cat Eye Syndrome |
|
Anal stenosis, Meckel diverticulum, Volvulus, Intestinal malrotation, Pulmonic stenosis, Rectal f... |
OMIM:115470 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Obesity... |
ORPHA:209902 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Rickets, Osteomalacia, Hypophosphatemic rickets, Elevated circulating alkaline phosphatase concen... |
OMIM:193100 |
Bronchial Neuroendocrine Tumor |
|
Pneumonia, Hepatic failure, Hypotension, Right ventricular failure, Cardiogenic shock, Protracted... |
ORPHA:97287 |
Systemic Capillary Leak Syndrome |
|
Hypotension, Diarrhea, Myalgia, Arrhythmia, Weight loss, Pancreatitis, Constitutional symptom, Fa... |
ORPHA:188 |
Ziegler-Huang Syndrome |
|
Bone marrow hypocellularity, Persistence of hemoglobin F, Hypogonadism, Intrauterine growth retar... |
OMIM:620501 |
Cryptogenic Organizing Pneumonia |
|
Neutrophilia, Leukocytosis, Cyanosis, Weight loss, Anorexia, Elevated circulating C-reactive prot... |
ORPHA:1302 |
Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Sepsis, Con... |
ORPHA:537 |
Tangier Disease |
|
Hypocholesterolemia, Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Orange discolored... |
ORPHA:31150 |
46,Xy Sex Reversal 4 |
|
Recurrent otitis media, Elevated circulating creatinine concentration, Micrognathia, Increased bl... |
OMIM:154230 |
Nephronophthisis-Like Nephropathy 2 |
|
Elevated circulating creatinine concentration, Recurrent respiratory infections, Bronchiectasis |
OMIM:619468 |
Pancreatic Colipase Deficiency |
|
Cholelithiasis, Exocrine pancreatic insufficiency, Megaloblastic anemia, Steatorrhea, Chronic dia... |
ORPHA:309108 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Acute hepat... |
ORPHA:131 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypermagnesemia, Peptic ulcer, Osteomalacia, Multiple lipomas, Hypophosphatemia, Pancreatitis, Hy... |
OMIM:600740 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Clinodactyly of the 2nd finger, Absent middle phalanx of 5th finger, Cholestasis, Hepatosplenomeg... |
OMIM:266920 |
Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Diarrhea, Elevated circulating hepatic transaminase concentration, C... |
ORPHA:36426 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Decreased fibular diameter, Postnatal growth retardation, Dysplasia of the femoral head, Microgna... |
OMIM:619127 |
Fanconi Anemia, Complementation Group O |
|
Short stature, Anal atresia, Rectal atresia |
OMIM:613390 |
Polyarteritis Nodosa |
|
Cardiomyopathy, Abnormality of the gastrointestinal tract, Weight loss, Raynaud phenomenon, Eleva... |
ORPHA:767 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Toe clinodactyly, Dentinogenesis imperfecta, Limitation of joint mobility, Upper limb undergrowth... |
ORPHA:166277 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Hypoglycemia, Decreased serum testosterone concentration, Decreased testi... |
ORPHA:453533 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Increased mean corpuscular volume, Increased circulating lactate dehydrogenase concentration, Pan... |
OMIM:613839 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Stomach cancer, Juvenile gastrointestinal polyposis, Multiple gastric polyps, Neoplasm of the rec... |
ORPHA:480536 |
Hyperlipidemia, Familial Combined, 3 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... |
OMIM:144250 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis |
OMIM:603529 |
Japanese Encephalitis |
|
Genu recurvatum, Diarrhea, Vomiting, Anorexia, Stiff neck, Elbow flexion contracture, Increased c... |
ORPHA:79139 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Genu valgum, Neutropenia, Genu varum, Osteopenia, Disproportionate short-limb short stature, Smal... |
OMIM:271510 |
Nephronophthisis 19 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... |
OMIM:616217 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Cholelithiasis, Failure to thrive, Congestive heart failure, Splenomegaly, Mac... |
OMIM:615512 |
Hyperlipoproteinemia, Type I |
|
Lactescent serum, Vomiting, Increased circulating chylomicron concentration, Hepatosplenomegaly, ... |
OMIM:238600 |
Caroli Syndrome |
|
Hypersplenism, Hyperbilirubinemia, Congenital hepatic fibrosis, Elevated circulating alkaline pho... |
ORPHA:480520 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Decreased liver function, Hypoglycemia, Hypertrophic cardiomyopathy, Intrauterine growth retardat... |
OMIM:618835 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Cardiomyopathy, Decreased liver function, Hypoglycemia, Intrauterine growth retardation, Elevated... |
OMIM:618839 |
Oculopharyngodistal Myopathy |
|
High, narrow palate, Oral-pharyngeal dysphagia, Distal lower limb muscle weakness, Weight loss, T... |
ORPHA:98897 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Arthrogryposis Multiplex Congenita 5 |
|
Hand clenching, Micrognathia, Acanthocytosis, Talipes equinovarus, Poikilocytosis, Hip dislocatio... |
OMIM:618947 |
Sarcoidosis |
|
Abnormal lymph node morphology, Arrhythmia, Weight loss, Erythema nodosum, Tubulointerstitial nep... |
ORPHA:797 |
Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia, Short stature, Growth delay |
OMIM:612563 |
Mowat-Wilson Syndrome |
|
Aortic valve stenosis, Recurrent otitis media, Genu valgum, Cryptorchidism, Decreased body weight... |
ORPHA:2152 |
Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated circulating acylcarnitine concentration, Hepatic failure, Decreased circulating carnitin... |
ORPHA:159 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hypomethioninemia, Feeding difficulties in infancy, Neutropenia, Hepatomegaly, Tachycardia, Methy... |
OMIM:277400 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia, Polycystic liver disease, Elevated circulating crea... |
OMIM:109130 |
Amyotrophic Lateral Sclerosis |
|
Xerostomia, Nausea and vomiting, Cachexia, Dysphagia, Tongue atrophy |
ORPHA:803 |
Mogs-Cdg |
|
Decreased circulating IgG level, Retrognathia, Nasogastric tube feeding, Decreased circulating Ig... |
ORPHA:79330 |
Interstitial Nephritis, Karyomegalic |
|
Elevated circulating hepatic transaminase concentration, Glycosuria, Elevated circulating creatin... |
OMIM:614817 |
Congenital Tufting Enteropathy |
|
Cholestatic liver disease, Vomiting, Secretory diarrhea, Failure to thrive, Abnormal large intest... |
ORPHA:92050 |
Distal Renal Tubular Acidosis |
|
Aminoaciduria, Vomiting, Diarrhea, Rickets, Failure to thrive, Osteomalacia, Growth delay, Reduce... |
ORPHA:18 |
Treacher-Collins Syndrome |
|
Micrognathia, Cryptorchidism, Encephalocele, High palate, Rectovaginal fistula, Thyroid hypoplasi... |
ORPHA:861 |
Onychotrichodysplasia And Neutropenia |
|
Chronic irritative conjunctivitis, Lymphocytosis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
Kyphomelic Dysplasia |
|
Disproportionate short stature, Limitation of joint mobility, Radial bowing, Micromelia, Flared m... |
OMIM:211350 |
Fabry Disease |
|
Nausea and vomiting, Mitral regurgitation, Arrhythmia, Achalasia, Anorexia, Abdominal pain, Hyper... |
ORPHA:324 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Foot acroosteolysis, Abnormality of the ankle, Abnormal epiphysis morphology, Abnormal hip bone m... |
ORPHA:970 |
Benign Recurrent Intrahepatic Cholestasis |
|
Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio... |
ORPHA:65682 |
Undifferentiated Pleomorphic Sarcoma |
|
Abnormality of the lower limb, Weight loss, Abnormal peritoneum morphology, Anorexia, Soft tissue... |
ORPHA:2023 |
Catel-Manzke Syndrome |
|
Ulnar deviation of the 2nd finger, Postnatal growth retardation, Micrognathia, Genu valgum, Crypt... |
OMIM:616145 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Increased circulating IgA level, Glomerulonephritis, Thrombocytopenia |
OMIM:314000 |
Hereditary Elliptocytosis |
|
Neonatal hyperbilirubinemia, Stomatocytosis, Cholelithiasis, Hyperbilirubinemia, Abnormal erythro... |
ORPHA:288 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... |
ORPHA:85188 |
Spastic Paraplegia 84, Autosomal Recessive |
|
Ankle flexion contracture, Leg muscle stiffness, Pes cavus, Knee flexion contracture, Hip contrac... |
OMIM:619621 |
Ppoma |
|
Diarrhea, Increased circulating cortisol level, Increased circulating prolactin concentration, Na... |
ORPHA:97278 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Intrahepatic cholestasis, Hepatic failure, Diarrhea, Elevated circulating hepatic transaminase co... |
OMIM:235555 |
Peripartum Cardiomyopathy |
|
Mitral regurgitation, Elevated jugular venous pressure, Left bundle branch block, Abdominal pain,... |
ORPHA:563 |
Mednik Syndrome |
|
Abnormal intestine morphology, Intrahepatic cholestasis, Decreased circulating ceruloplasmin conc... |
ORPHA:171851 |
Localized Scleroderma |
|
Vasculitis, Gastroesophageal reflux, Dental malocclusion, Abnormal facial skeleton morphology, Fa... |
ORPHA:90289 |
Riddle Syndrome |
|
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Diarrhea, Recurrent viral infect... |
ORPHA:420741 |
Attrv122I Amyloidosis |
|
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... |
ORPHA:85451 |
Mercury Poisoning |
|
Hypotension, Interstitial pneumonitis, Hypokalemia, Episodic abdominal pain, Episodic vomiting, A... |
ORPHA:330021 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Hypotension, Fatigue, Hepatitis |
ORPHA:199296 |
Microgastria-Limb Reduction Defect Syndrome |
|
Abnormality of the spleen, Esophagitis, Amelia, Perineal fistula, Abnormal metacarpal morphology,... |
ORPHA:2538 |
Holocarboxylase Synthetase Deficiency |
|
Perioral eczema, Eczematoid dermatitis, Nausea and vomiting, Hyperammonemia, Keratoconjunctivitis... |
ORPHA:79242 |
Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Generalized aminoaciduria, Rickets, Glycosuria, Elevated circulating parathyroid horm... |
OMIM:613388 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Elevated gamma-glutamyltransferase level, Recurrent urinary tract infections, Elevated circulatin... |
OMIM:613095 |
Slc39A8-Cdg |
|
Osteopenia, Cutaneous syndactyly of toes, Disproportionate short-limb short stature, Elbow flexio... |
ORPHA:468699 |
Beta-Ketothiolase Deficiency |
|
Hypotension, Vomiting, Diarrhea, Hypoglycemia, Hyperglycemia, Thrombocytosis, Leukocytosis, Hyper... |
ORPHA:134 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Rickets, Hypophosphatemic rickets, Hypophosphatemia, Craniosynostosis, Increased bone mineral den... |
OMIM:241520 |
Occipital Horn Syndrome |
|
Capitate-hamate fusion, Growth delay, Decreased circulating ceruloplasmin concentration, Genu val... |
OMIM:304150 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Diarrhea, Vomiting, Gastroesophageal reflux, Growth delay, Elevated circulating creatinine concen... |
OMIM:223900 |
Acute Promyelocytic Leukemia |
|
Epistaxis, Diffuse alveolar hemorrhage, Anorexia, Pancytopenia, Leukopenia, Leukocytosis, Chronic... |
ORPHA:520 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Intrauterine growth retardation, Macrocytic anemia, Hypersegmentation of neutrophil nuclei |
OMIM:615578 |
Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Fasciitis, Myositis, Eosinophilia, Weight loss, Arthritis, Acrocy... |
ORPHA:3165 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Enlarged lacrimal glands, Xerostomia, Abnormal salivary gland morphology, Increased circulating I... |
ORPHA:79078 |
Multiple Endocrine Neoplasia, Type I |
|
Thyroid adenoma, Peptic ulcer, Pituitary adenoma, Adrenocortical adenoma, Pituitary prolactin cel... |
OMIM:131100 |
Alagille Syndrome 1 |
|
Short distal phalanx of finger, Hepatic failure, Elevated circulating hepatic transaminase concen... |
OMIM:118450 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Transient ische... |
OMIM:274150 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat... |
OMIM:611926 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Lymphopenia, Neutropenia, Recurrent lower respiratory tract infections, Short metacarpal, Eczemat... |
ORPHA:508542 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Increased serum serotonin, Elevated gamma-glutamyltransferase level, Diarrhea, Neoplasm of the ne... |
ORPHA:100085 |
Interstitial Lung Disease 2 |
|
Alveolar cell carcinoma, Increased circulating antibody level, Cirrhosis, Pulmonary arterial hype... |
OMIM:178500 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hypotension, Hyperkalemia, Increased circulating renin level |
OMIM:620125 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Pneumonia, Diarrhea, Xerostomia, Inflammatory abnormality of the skin, Oral-pharyngeal dysphagia,... |
ORPHA:95455 |
Mucolipidosis Type Ii |
|
Abnormal atrioventricular valve physiology, Limitation of joint mobility, Postnatal growth retard... |
ORPHA:576 |
Lesch-Nyhan Syndrome |
|
Vomiting, Podagra, Hyperuricemia, Megaloblastic anemia, Short stature, Testicular atrophy, Dyspha... |
OMIM:300322 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Uveitis, Erysipelas, Fasciitis, Leukocytosis, Splenomegaly, Skin rash, Orchitis, Myositis, Perito... |
ORPHA:32960 |
Lipodystrophy, Familial Partial, Type 7 |
|
Insulin resistance, Type I diabetes mellitus, Vomiting, Diarrhea, Failure to thrive, Glucose into... |
OMIM:606721 |
Erdheim-Chester Disease |
|
Abnormal epiphysis morphology, Congestive heart failure, Osteolysis, Osteomyelitis, Xanthelasma, ... |
ORPHA:35687 |
Oculodentodigital Dysplasia |
|
Toe syndactyly, Carious teeth, Finger syndactyly, Clinodactyly, Micrognathia, Arrhythmia, Short h... |
ORPHA:2710 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Anal atresia, Rectal atresia, Rectovaginal fistula, Perineal fistula |
ORPHA:3016 |
Neurofibromatosis Type 1 |
|
Neoplasm of the skin, Genu valgum, Cryptorchidism, Multiple lipomas, Leukemia, Sarcoma, Genu varu... |
ORPHA:636 |
Pleural Mesothelioma |
|
Abnormal cardiovascular system physiology, Weight loss, Lymphadenopathy, Hepatomegaly, Dysphagia |
ORPHA:50251 |
Lassa Fever |
|
Diarrhea, Sepsis, Shock, Nausea and vomiting, Jaundice, Conjunctivitis, Abdominal pain, Increased... |
ORPHA:99824 |
Seckel Syndrome |
|
Cone-shaped epiphysis, Sandal gap, Abnormal dental enamel morphology, Intrauterine growth retarda... |
ORPHA:808 |
Familial Expansile Osteolysis |
|
Hydroxyprolinuria, Pathologic fracture, Elevated circulating alkaline phosphatase concentration, ... |
OMIM:174810 |
Renal Tubular Acidosis, Distal, 1 |
|
Osteomalacia, Pathologic fracture, Elevated circulating creatinine concentration, Hypocalcemia, H... |
OMIM:179800 |
Fanconi Renotubular Syndrome 1 |
|
Aminoaciduria, Rickets, Glycosuria, Osteomalacia, Elevated circulating alkaline phosphatase conce... |
OMIM:134600 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia, Trigeminal neuralgia, Hypotension |
ORPHA:91354 |
Leukocyte Adhesion Deficiency |
|
Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Glomerulonephritis, Meningiti... |
ORPHA:2968 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Portal hypertension... |
OMIM:620367 |
Sclerosing Cholangitis, Neonatal |
|
Hepatic bridging fibrosis, Portal fibrosis, Biliary cirrhosis, Cholestasis, Ascites, Portal hyper... |
OMIM:617394 |
Cholera |
|
Hypovolemic shock, Hypotension, Diarrhea, Vomiting, Aspiration pneumonia, Hypocalcemia, Hypokalem... |
ORPHA:173 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Recurrent upper respiratory tract infections, Impaired pain sensation, Ganglioneuroblastoma, Narc... |
ORPHA:293987 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia, Small for gestational age, Cyanosis |
ORPHA:621 |
Fryns-Smeets-Thiry Syndrome |
|
Micrognathia, Patellar aplasia, Joint hypermobility, Arachnodactyly, Cachexia, Short stature, Hip... |
ORPHA:2058 |
Cranio-Osteoarthropathy |
|
Clubbing of toes, Deviation of finger, Eczematoid dermatitis, Abnormal tibia morphology, Joint st... |
ORPHA:1525 |
Focal Myositis |
|
Myositis, Weight loss, Limitation of joint mobility, Elevated circulating creatine kinase concent... |
ORPHA:48918 |
Follicular Lymphoma |
|
Lymphoma, Splenomegaly, Weight loss, Lymphadenopathy, Abnormal peritoneum morphology, Meningitis,... |
ORPHA:545 |
Neu-Laxova Syndrome |
|
Bifid uvula, Osteopenia, Rickets, Micromelia, Retrognathia, Osteomalacia, Hypogonadism, Intrauter... |
ORPHA:2671 |
Vici Syndrome |
|
Recurrent infections, Decreased circulating IgG level, Cardiomyopathy, Recurrent respiratory infe... |
ORPHA:1493 |
Dyskeratosis Congenita, X-Linked |
|
Carious teeth, Pancytopenia, Cryptorchidism, Hodgkin lymphoma, Acute myeloid leukemia, Cirrhosis,... |
OMIM:305000 |
Bardet-Biedl Syndrome 20 |
|
Male hypogonadism, Elevated circulating hepatic transaminase concentration, Bilateral cryptorchid... |
OMIM:619471 |
Autosomal Recessive Malignant Osteopetrosis |
|
Abnormal epiphysis morphology, Growth delay, Delayed eruption of teeth, Abnormal metaphysis morph... |
ORPHA:667 |
Gracile Syndrome |
|
Increased circulating ferritin concentration, Cholestasis, Intrauterine growth retardation, Hepat... |
ORPHA:53693 |
Adrenocortical Carcinoma |
|
Increased circulating cortisol level, Hyperaldosteronism, Increased urinary cortisol level, Incre... |
ORPHA:1501 |
Saccharopinuria |
|
Hyperlysinuria, Hypercystinemia, Hyperammonemia, Hyperlysinemia, Abnormal circulating enzyme conc... |
ORPHA:3124 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... |
OMIM:612926 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated circulating creatinine concentration, Elevated circulating hepatic transaminase concentr... |
OMIM:620138 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Severe short stature, Dilated cardiomyopathy, Failure to thrive, Hypertrophic cardiomyopathy, Abn... |
ORPHA:2556 |
Esophageal Atresia |
|
Clinodactyly, Esophagitis, Abnormal gastrointestinal tract morphology, Feeding difficulties in in... |
ORPHA:1199 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... |
OMIM:612925 |
Fanconi Anemia, Complementation Group F |
|
Pneumonia, Bone marrow hypocellularity, Absent thumb, Short thumb, Failure to thrive, Decreased r... |
OMIM:603467 |
Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
Malakoplakia |
|
Diarrhea, Inflammatory abnormality of the skin, Urinary bladder inflammation, Abnormality of the ... |
ORPHA:556 |
Ethylene Glycol Poisoning |
|
Hypotension, Vomiting, Congestive heart failure, Shock, Hypocalcemia, Gastritis, Prolonged QT int... |
ORPHA:31826 |
Hermansky-Pudlak Syndrome 2 |
|
Recurrent pneumonia, Gastroesophageal reflux, Periodontitis, Recurrent otitis media, Reduced natu... |
OMIM:608233 |
Interstitial Cystitis |
|
Abnormality of tumor necrosis factor secretion, Urinary bladder inflammation, Abnormality of the ... |
ORPHA:37202 |
Renal Tubular Acidosis, Proximal |
|
Short stature, Elevated circulating creatinine concentration, Rickets, Osteomalacia |
OMIM:179830 |
Huntington Disease |
|
Weight loss, Abnormal circulating cholesterol concentration, Oral-pharyngeal dysphagia, Decreased... |
ORPHA:399 |
Imerslund-Grasbeck Syndrome 1 |
|
Megaloblastic anemia |
OMIM:261100 |
Melnick-Needles Syndrome |
|
Craniofacial hyperostosis, Short distal phalanx of finger, Delayed eruption of teeth, Cone-shaped... |
ORPHA:2484 |
Megaloblastic Anemia, Folate-Responsive |
|
Increased circulating lactate dehydrogenase concentration, Increased circulating ferritin concent... |
OMIM:601775 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Mandibular prognathia, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, U... |
OMIM:608594 |
Scrub Typhus |
|
Hypotension, Myalgia, Nausea and vomiting, Skin rash, Infectious encephalitis, Gangrene, Meningit... |
ORPHA:83317 |
Isolated Biliary Atresia |
|
Elevated gamma-glutamyltransferase level, Cholestasis, Hypopituitarism, Xanthelasma, Elevated cir... |
ORPHA:30391 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Hepatosplenomegaly, Abnormal metatarsal morphology, Synovitis, Knee osteoarthritis, Iridocyclitis... |
ORPHA:85408 |
Non-Functioning Paraganglioma |
|
Sinus tachycardia, Congestive heart failure, Cerebral hemorrhage, Positive regitine blocking test... |
ORPHA:94080 |
Chromosome 5Q12 Deletion Syndrome |
|
Hypotension, Decreased body mass index, Postnatal growth retardation, Macroglossia, Patent ductus... |
OMIM:615668 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Recurrent bacterial infections |
OMIM:603585 |
Cog2-Cdg |
|
Small pituitary gland, Decreased circulating ceruloplasmin concentration, Decreased circulating c... |
ORPHA:435934 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Premature adrenarche, Clinodactyly, Postnatal growth retardation, Esophagitis, Micrognathia, Cryp... |
ORPHA:96182 |
Rat-Bite Fever |
|
Diarrhea, Lymphadenitis, Vomiting, Septic arthritis, Parotitis, Sepsis, Morbilliform rash, Skin r... |
ORPHA:31205 |
Arterial Tortuosity Syndrome |
|
Esophagitis, Arachnodactyly, Hip dislocation, Gastroesophageal reflux, Hypertrophic cardiomyopath... |
ORPHA:3342 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Osteopenia, Type I diabetes mellitus, Lymphopenia, Squamous cell carcinoma of the skin, Portal hy... |
OMIM:620365 |
Hennekam-Beemer Syndrome |
|
Pneumonia, Mastocytosis, Hypotension, Vomiting, Failure to thrive, Arrhythmia, Telangiectasia of ... |
ORPHA:2135 |
Kearns-Sayre Syndrome |
|
Third degree atrioventricular block, Cardiomyopathy, Sideroblastic anemia, Primary adrenal insuff... |
OMIM:530000 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Elevated systolic blood pressure, Abnormal circulating aldosterone, Decreased circulating renin l... |
OMIM:300539 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Squamous cell carcinoma of the skin, Skin rash, Melanoma, Cachexia, Basal cell carcinoma, Short s... |
ORPHA:220295 |
Hepatic Lipase Deficiency |
|
Angina pectoris, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:614025 |
Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia, Hypophosphatemia, Short stature, Bowing of the legs |
OMIM:146350 |
Diamond-Blackfan Anemia 10 |
|
Growth delay, Micrognathia, Malar flattening, Macrocytic anemia, Steroid-responsive anemia, Retic... |
OMIM:613309 |
Interstitial Lung And Liver Disease |
|
Aminoaciduria, Hepatic fibrosis, Hepatic failure, Vomiting, Intraalveolar phospholipid accumulati... |
OMIM:615486 |
Hypophosphatasia, Adult |
|
Carious teeth, Rickets, Osteomalacia, Pathologic fracture, Abnormal foot morphology, Increased su... |
OMIM:146300 |
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic dyserythropoietic anemia, Macrocytic anemia |
OMIM:619789 |
Obesity Due To Sim1 Deficiency |
|
Hypotension, Obesity, Postural hypotension with compensatory tachycardia |
ORPHA:369873 |
Acitretin/Etretinate Embryopathy |
|
Third degree atrioventricular block, Abnormality of the calcaneus, Micrognathia, Median cleft pal... |
ORPHA:40366 |
Hydroxykynureninuria |
|
Abnormal circulating tryptophan concentration, Hypotension, Tachycardia, Stomatitis |
ORPHA:79155 |
Obesity Due To Congenital Leptin Deficiency |
|
Recurrent upper respiratory tract infections, Obesity, Orthostatic hypotension due to autonomic d... |
ORPHA:66628 |
Giant Cell Arteritis |
|
Vasculitis, Hepatic failure, Epistaxis, Mediastinal lymphadenopathy, Gastrointestinal infarctions... |
ORPHA:397 |
Pernicious Anemia |
|
Megaloblastic anemia |
OMIM:170900 |
17Q11 Microdeletion Syndrome |
|
Glioma, Abnormality of the sphenoid sinus, Brainstem glioma, Brain neoplasm, Large hands, Leukemi... |
ORPHA:97685 |
Autosomal Recessive Primary Microcephaly |
|
Short stature, Abnormal cortical bone morphology, Growth delay |
ORPHA:2512 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Recurrent upper respiratory tract infections, Obesity, Orthostatic hypotension due to autonomic d... |
ORPHA:179494 |
Colchicine Poisoning |
|
Hypotension, Diarrhea, Vomiting, Cardiogenic shock, Hypomagnesemia, Congestive heart failure, Hyp... |
ORPHA:31824 |
Immune Deficiency, Familial Variable |
|
Recurrent infections, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
Beckwith-Wiedemann Syndrome |
|
Large placenta, Cryptorchidism, Hepatoblastoma, Feeding difficulties in infancy, Hepatomegaly, Ne... |
ORPHA:116 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Pulmonary arterial hypertension, Weight loss, Bronchiectasis |
ORPHA:1164 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Limitation of joint mobility, Slender long bone, Abnormal hip bone morphology, Micrognathia, Abno... |
ORPHA:1486 |
Myotonic Dystrophy 2 |
|
Decreased circulating IgG level, Insulin insensitivity, Hypogonadism, Palpitations, Type II diabe... |
OMIM:602668 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Hypotension, Elevated circulating creatinine concentration, Gout, Hyperuricemia, Anemia, Hyperten... |
OMIM:174000 |
Acquired Hypertrichosis Lanuginosa |
|
Neoplasm of the respiratory system, Neoplasm, Chronic diarrhea, Weight loss, Lymphadenopathy, Mac... |
ORPHA:2221 |
Hyperzincemia With Functional Zinc Depletion |
|
Vasculitis, Diarrhea, Increased serum zinc, Skin rash, Hepatomegaly, Osteoporosis |
OMIM:601979 |
Pitt-Hopkins Syndrome |
|
Small hand, Supernumerary nipple, Postnatal growth retardation, Esophagitis, Cryptorchidism, Hodg... |
ORPHA:2896 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:300861 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, ... |
OMIM:616959 |
Acquired Methemoglobinemia |
|
Vomiting, Palpitations, Cyanosis, Methemoglobinemia, Abdominal pain, Arrhythmia, Syncope, Tachyca... |
ORPHA:464453 |
Cardiogenic Shock |
|
Hypotension, Right ventricular failure, Abnormal left ventricular function, Congestive heart fail... |
ORPHA:97292 |
Nephronophthisis 2 |
|
Elevated circulating creatinine concentration, Chronic tubulointerstitial nephritis, Pulmonary in... |
OMIM:602088 |
Exercise-Induced Malignant Hyperthermia |
|
Hepatic failure, Vomiting, Hyperphosphatemia, Hypotension, Decreased liver function, Abnormal pul... |
ORPHA:466650 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Aminoaciduria, Increased hepatic glycogen content, Copper accumulation in liver, Elevated hepatic... |
OMIM:614946 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Postnatal growth retardation, Contracture of the distal interphalangeal joint of the fingers, Ove... |
ORPHA:83617 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Homocystinuria, Increased mean corpuscular volume, Decreased methylmalonyl-CoA mutase activity, D... |
OMIM:277410 |
Osteosarcoma |
|
Increased circulating lactate dehydrogenase concentration, Abnormal femoral metaphysis morphology... |
ORPHA:668 |
Primary Ciliary Dyskinesia |
|
Recurrent mycobacterial infections, Recurrent otitis media, Intestinal malrotation, Chronic sinus... |
ORPHA:244 |
Leptospirosis |
|
Uveitis, Diarrhea, Hypotension, Hepatitis, Subconjunctival hemorrhage, Pulmonary hemorrhage, Myal... |
ORPHA:509 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteomalacia, Micrognathia, Cryptorchidism, Abnormal metacarpal morphology, Large hands, Aplasia/... |
ORPHA:2636 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Retrognathia, Persistence of hemoglobin F, Micrognathia, Joint hypermobility, Short stature |
OMIM:617101 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Short femur, Short umbilical cord, Short humerus, Exaggerated startle response, Short stature, Dy... |
OMIM:618367 |
Juvenile Nephropathic Cystinosis |
|
Hypouricemia, Aminoaciduria, Vomiting, Growth delay, Glycosuria, Failure to thrive, Elevated circ... |
ORPHA:411634 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... |
OMIM:612924 |
African Trypanosomiasis |
|
Diarrhea, Arrhythmia, Weight loss, Arthralgia, Urinary incontinence, Choreoathetosis, Somatic sen... |
ORPHA:3385 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Carious teeth, Hyperphosphatemia, Growth delay, Decreased testicular size, Hypocalcemic tetany, P... |
ORPHA:93325 |
Central Diabetes Insipidus |
|
Diarrhea, Failure to thrive, Nausea and vomiting, Hyponatremia, Weight loss, Anorexia, Diabetes i... |
ORPHA:178029 |
Hyperparathyroidism, Neonatal Severe |
|
Aminoaciduria, Metaphyseal irregularity, Elevated circulating parathyroid hormone level, Failure ... |
OMIM:239200 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Aspiration pneumonia, Abnormal gastrointestinal tract morphology, Vulvar neoplasm, Weight loss, A... |
ORPHA:1018 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Recurrent aspiration pneumonia, Anal stenosis, Gastroesophageal reflux, Rectovestibular fistula, ... |
ORPHA:280633 |
Congenital Disorder Of Glycosylation, Type Iiq |
|
Small pituitary gland, Decreased circulating ceruloplasmin concentration, Elevated circulating he... |
OMIM:617395 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Palmoplantar keratoderma, Decreased testicular size, Hypercholesterolemia, Laryngeal carcinoma, P... |
OMIM:610644 |
Acute Radiation Syndrome |
|
Hypotension, Inflammatory abnormality of the skin, Vomiting, Diarrhea, Interstitial pneumonitis, ... |
ORPHA:454831 |
Inhalational Anthrax |
|
Hypotension, Vomiting, Sepsis, Fatigue, Internal hemorrhage |
ORPHA:247257 |
Copper Deficiency, Familial Benign |
|
Anemia, Seborrheic dermatitis, Decreased circulating copper concentration, Failure to thrive |
OMIM:121270 |
Loeffler Endocarditis |
|
Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Congestive heart failure... |
ORPHA:75566 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Aortic valve stenosis, Congestive heart failure, Squamous cell carcinoma of the skin, Papillary r... |
ORPHA:363618 |
Carney Triad |
|
Gastrointestinal hemorrhage, Diarrhea, Mediastinal lymphadenopathy, Adrenocortical adenoma, Adren... |
ORPHA:139411 |
Choreoacanthocytosis |
|
Peroneal muscle atrophy, Dilated cardiomyopathy, Increased circulating lactate dehydrogenase conc... |
ORPHA:2388 |
Tracheobronchopathia Osteochondroplastica |
|
Pneumonia, Recurrent pneumonia, Chest pain, Esophagitis, Chest tightness, Recurrent respiratory i... |
ORPHA:3348 |
Hereditary Hyperekplexia |
|
Hiatus hernia, Esophagitis, Gastroesophageal reflux |
ORPHA:3197 |
Anaplastic Thyroid Carcinoma |
|
Goiter, Anaplastic thyroid carcinoma, Neoplasm of the skeletal system, Tracheoesophageal fistula,... |
ORPHA:142 |
Primary Familial Polycythemia |
|
Abdominal pain, Epistaxis, Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Microphthalmia, Syndromic 1 |
|
High, narrow palate, Iris coloboma, Recurrent otitis media, Ciliary body coloboma, Aganglionic me... |
OMIM:309800 |
Infantile Nephropathic Cystinosis |
|
Aminoaciduria, Vomiting, Rickets, Glycosuria, Failure to thrive, Abnormality of thyroid physiolog... |
ORPHA:411629 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Distal tapering of metatarsals, Finger swelling, Micrognathia, Interphalangeal joint erosions, Hi... |
OMIM:259600 |
Wild Type Attr Amyloidosis |
|
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Inter... |
ORPHA:330001 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Broad femoral neck, Overtubulated long bones, Abnormal foot morphology, Short tubular... |
ORPHA:85184 |
Familial Osteodysplasia, Anderson Type |
|
Aplastic clavicle, Mandibular prognathia, Bifid femur, Carious teeth, Failure of eruption of perm... |
ORPHA:2769 |
Neuroblastoma, Susceptibility To, 1 |
|
Diarrhea, Failure to thrive, Ganglioneuroblastoma, Ganglioneuroma, Weight loss, Neuroblastoma, An... |
OMIM:256700 |
Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
Lethal Congenital Contracture Syndrome 10 |
|
Stiff neck, Overlapping fingers, Micrognathia, Femoral bowing, Intrauterine growth retardation, H... |
OMIM:617022 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Epistaxis, Acanthocytosis, Anemia of inadequate production, Congenital thrombocytopenia, Poikiloc... |
OMIM:300367 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Hypotension, Sepsis, Bradycardia, Tachycardia, Cardiac arrest |
ORPHA:70587 |
Malignant Peritoneal Mesothelioma |
|
Ileus, Neoplasm, Peritonitis, Weight loss, Abdominal distention, Abdominal pain, Pedal edema |
ORPHA:168811 |
Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Hypermagnesemia, Peptic ulcer, Osteomalacia, Nausea and vomiting, Episodi... |
ORPHA:405 |
Isolated Succinate-Coq Reductase Deficiency |
|
Severe short stature, Abnormal atrioventricular conduction, Hypertrophic cardiomyopathy, Intraute... |
ORPHA:3208 |
Reynolds Syndrome |
|
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Biliary cir... |
OMIM:613471 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Pes cavus, Elevated circulating creatine kinase concentration, Conjunctival telangiectasia, Incre... |
OMIM:606002 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hypotension, Vomiting, Failure to thrive, Hyponatremia, Hyperkalemia, Increased circulating renin... |
ORPHA:90791 |
Irida Syndrome |
|
Abnormal intestine morphology, Intrahepatic cholestasis, Decreased circulating copper concentration |
ORPHA:209981 |
Diamond-Blackfan Anemia 4 |
|
Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Short stature, Growth delay |
OMIM:612527 |
Behçet Disease |
|
Nausea and vomiting, Mitral regurgitation, Weight loss, Arthralgia, Ataxia, Anorexia, Abdominal p... |
ORPHA:117 |
Alkaptonuria |
|
Aortic valve stenosis, Aminoaciduria, Joint stiffness, Reduced bone mineral density, Mitral regur... |
ORPHA:56 |
Autosomal Dominant Polycystic Kidney Disease |
|
Recurrent urinary tract infections, Pituitary growth hormone cell adenoma, Elevated circulating c... |
ORPHA:730 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Rhizomelia, Broad thumb, Short 5th metacarpal, Femoral bowing, Short 4th metacarpal, Pes planus, ... |
OMIM:619638 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hyperparathyroidism, Rickets, Elevated circulating parathyroid hormone level, Hypercalcemia, Hypo... |
OMIM:612089 |
Aa Amyloidosis |
|
Hypotension, Vomiting, Malnutrition, Malabsorption, Nausea, Abdominal pain, Chronic diarrhea |
ORPHA:85445 |
Mednik Syndrome |
|
Hepatic fibrosis, Microcolon, Diarrhea, Volvulus, Cholestasis, Jejunal atresia, Cirrhosis, Increa... |
OMIM:609313 |
Chromosome 15Q25 Deletion Syndrome |
|
Polysplenia, Intrauterine growth retardation, Cryptorchidism, Macrocytic anemia, Long fingers, Sh... |
OMIM:614294 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Uveitis, Abnormality of tumor necrosis factor secretion, Sacroiliac arthritis, Psoriasiform derma... |
ORPHA:85436 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Abnormal B cell morphology, Decreased response to growth hormone stimulation test, Contracture of... |
OMIM:618223 |
Chronic Beryllium Disease |
|
Mediastinal lymphadenopathy, Weight loss, Abnormal proportion of CD4-positive T cells, Lymphocyti... |
ORPHA:133 |
Autosomal Dominant Hypocalcemia |
|
Hypotension, Hyperphosphatemia, Eczematoid dermatitis, Hypomagnesemia, Congestive heart failure, ... |
ORPHA:428 |
Chromomycosis |
|
Recurrent bacterial infections, Keratoconjunctivitis sicca, Keratitis |
ORPHA:182 |
Eec Syndrome |
|
Toe syndactyly, Xerostomia, Keratitis, Lymphoma, Finger syndactyly, Decreased response to growth ... |
ORPHA:1896 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Carious teeth, Natal tooth, Clinodactyly, Branchial cyst, Ankyloglossia, Micrognathia, Prolonged ... |
OMIM:620186 |
Tsh-Secreting Pituitary Adenoma |
|
Increased circulating prolactin concentration, Central adrenal insufficiency, Nausea and vomiting... |
ORPHA:91347 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Microcolon, Hypogonadism, Ileus, Splenomegaly, Aganglionic megacolon, Arrhythmia, Constipation, H... |
ORPHA:163746 |
Aspartylglucosaminuria |
|
Carious teeth, Umbilical hernia, Joint stiffness, Malabsorption, Abnormal cortical bone morpholog... |
ORPHA:93 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Premature adrenarche, Weight loss, Hyperkalemia, Neonatal hypoglycemia, Abnormal circulating dehy... |
ORPHA:90794 |
Hutchinson-Gilford Progeria Syndrome |
|
Aortic valve stenosis, Limitation of joint mobility, Ankyloglossia, Limited hip movement, Microgn... |
ORPHA:740 |
Stüve-Wiedemann Syndrome |
|
Limitation of joint mobility, Genu valgum, Bowing of the long bones, Talipes equinovarus, Feeding... |
ORPHA:3206 |
Diamond-Blackfan Anemia 5 |
|
Leukopenia, Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Short stature |
OMIM:612528 |
Cap Polyposis |
|
Atrophic gastritis, Hematochezia, Diarrhea, Constipation, Weight loss, Abdominal distention, Abdo... |
ORPHA:160148 |
Alexander Disease |
|
Hypotension, Failure to thrive, Recurrent singultus, Chorea, Nausea and vomiting, Infectious ence... |
ORPHA:58 |
Erythrocytosis, Familial, 2 |
|
Hypotension, Failure to thrive, Hemangioma, Pulmonary arterial hypertension, Fatigue, Cerebral he... |
OMIM:263400 |
Renal Cysts And Diabetes Syndrome |
|
Elevated circulating hepatic transaminase concentration, Abnormality of alkaline phosphatase leve... |
OMIM:137920 |
Diamond-Blackfan Anemia 12 |
|
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Triphalangeal thumb, Reticuloc... |
OMIM:615550 |
O'Sullivan-Mcleod Syndrome |
|
Eosinophilia, Increased circulating antibody level |
ORPHA:99965 |
Renal Tubular Acidosis Iii |
|
Hypokalemia, Rickets, Osteomalacia |
OMIM:267200 |
Erythema Elevatum Diutinum |
|
Skin rash, Vasculitis in the skin, Increased circulating antibody level |
ORPHA:90000 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Toe syndactyly, Shallow acetabular fossae, Broad thumb, Hypoplastic iliac wing, Micrognathia, Cry... |
OMIM:609945 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Finger syndactyly, Abnormality of the thyroid gland, Short hard palate, Cachexia, Anorexia, Short... |
ORPHA:1969 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Dilated cardiomyopathy, Intestinal pseudo-obstruction, Gastroparesis, Absent Achilles reflex, Pes... |
OMIM:607459 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Limitation of joint mobility, Finger syndactyly, Cryptorchidism, Elbow ankylosis, Abnormal metaca... |
ORPHA:2658 |
Hereditary Angioedema Type 1 |
|
Hypotension, Diarrhea, Vomiting, Paresthesia, Intestinal edema, Nausea, Abnormal soft palate morp... |
ORPHA:100050 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Retrognathia, Gastrostomy tube feeding in infancy, Constipation, Thrombocytopenia, High noncerulo... |
ORPHA:457351 |
Mismatch Repair Cancer Syndrome 3 |
|
Lymphoma, Lisch nodules, Neoplasm of the rectum, Astrocytoma, T-cell lymphoma, Glioblastoma multi... |
OMIM:619097 |
Medullary Thyroid Carcinoma |
|
Diarrhea, Elevated circulating calcitonin concentration, Pheochromocytoma, Neoplasm of the skelet... |
ORPHA:1332 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hyperglycemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Abdominal obes... |
OMIM:615812 |
Anemia, Congenital Dyserythropoietic, Type Iiia |
|
Increased circulating lactate dehydrogenase concentration, Macrocytic anemia, Anemia of inadequat... |
OMIM:105600 |
Hypercalcemia, Infantile, 1 |
|
Vomiting, Failure to thrive, Hypercalcemia, Weight loss, Decreased circulating parathyroid hormon... |
OMIM:143880 |
Wrinkly Skin Syndrome |
|
Osteopenia, Congenital hip dislocation, Carious teeth, Deep plantar creases, Failure to thrive, U... |
ORPHA:2834 |
Post-Traumatic Pituitary Deficiency |
|
Hypotension, Fatigue, Delayed puberty, Growth delay |
ORPHA:95619 |
Chronic Hiccup |
|
Weight loss, Malnutrition |
ORPHA:396 |
Weill-Marchesani Syndrome 2 |
|
Aortic valve stenosis, Broad phalanges of the hand, Mitral regurgitation, High palate, Patent duc... |
OMIM:608328 |
Ataxia With Vitamin E Deficiency |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:277460 |
Subcorneal Pustular Dermatosis |
|
Rheumatoid arthritis, Increased circulating antibody level, Pustule, Hypothyroidism, Hyperthyroid... |
ORPHA:48377 |
Riddle Syndrome |
|
Short stature, Decreased circulating IgG level |
OMIM:611943 |
Perry Syndrome |
|
Hypotension, Weight loss |
ORPHA:178509 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Growth delay, Dental malocclusion, Flared metaphysis, Cortical irregularity, Microgna... |
OMIM:249420 |
Pelvis-Shoulder Dysplasia |
|
Fifth finger distal phalanx clinodactyly, Micrognathia, Talipes equinovarus, Aplasia/hypoplasia o... |
ORPHA:2839 |
Alström Syndrome |
|
Testicular fibrosis, Elevated gamma-glutamyltransferase level, Decreased circulating T4 concentra... |
ORPHA:64 |
Short Syndrome |
|
Insulin resistance, Severe short stature, Abnormal mandible morphology, Abnormal dental enamel mo... |
ORPHA:3163 |
Restrictive Dermopathy |
|
Osteopenia, Microcolon, Natal tooth, Structural foot deformity, Camptodactyly of finger, Small pl... |
ORPHA:1662 |
Kenny-Caffey Syndrome, Type 2 |
|
Severe short stature, Hyperphosphatemia, Hypoparathyroidism, Hypocalcemia, Abnormality of the med... |
OMIM:127000 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Polycythemia, Cyanosis, Methemoglobinemia, Growth delay, Decreased circulating nicotinamide adeni... |
OMIM:250800 |
Revesz Syndrome |
|
Bone marrow hypocellularity, Aplastic anemia, Oral leukoplakia, Intrauterine growth retardation, ... |
OMIM:268130 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Extraadrenal pheochromocytoma, Sinus tachycardia, Congestive heart failure, Cerebral hemorrhage, ... |
ORPHA:276621 |
Orotic Aciduria |
|
Folate-unresponsive megaloblastic anemia, Failure to thrive, Impaired T cell function, Anisocytos... |
OMIM:258900 |
Nephroblastoma |
|
Neoplasm, Nephroblastoma, Neoplasm of the liver, Weight loss, Lymphadenopathy, Abdominal pain, Hy... |
ORPHA:654 |
Nk-Cell Enteropathy |
|
Increased T cell count |
ORPHA:263665 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Aplasia of the thymus, Split hand, Short stature, Foot polydactyly, Duodenal atresia, Phocomelia |
ORPHA:3004 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Arteritis, Intestinal fistula, Gastrointestinal infarctions, Ischemi... |
ORPHA:679 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine, Abnormal cardiovascular system physiology, Arterial occlusion |
ORPHA:289601 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Arachnodactyly, Feeding difficulties in infancy, Dysphagia, Hypoplasia of the... |
ORPHA:500150 |
Pulmonary Alveolar Microlithiasis |
|
Right ventricular failure, Oxygen desaturation on exertion, Hypoxemia, Stippled calcification in ... |
ORPHA:60025 |
Patent Urachus |
|
Abdominal pain, Recurrent gram-negative bacterial infections, Recurrent urinary tract infections |
ORPHA:431341 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Retinal capillary hemangioma, Extraadrenal pheochromocytoma, Sinus tachycardia, Congestive heart ... |
ORPHA:29072 |
9Q33.3Q34.11 Microdeletion Syndrome |
|
Epistaxis, Bilateral coxa valga, Patellar hypoplasia, Esophagitis, Cryptorchidism, Patellar aplas... |
ORPHA:495818 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Mac... |
OMIM:300835 |
Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:610629 |
Chronic Graft Versus Host Disease |
|
Diarrhea, Xerostomia, Pancytopenia, Weight loss, Anorexia, Abdominal pain, Dysphagia, Gastroesoph... |
ORPHA:99921 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration |
OMIM:603776 |
Okur-Chung Neurodevelopmental Syndrome |
|
Decreased circulating IgG level, Broad hallux, Failure to thrive, Umbilical hernia, Decreased cir... |
OMIM:617062 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Hypotension, Myalgia, Gait ataxia, Dysmetria, Hypertension, Ataxia, Dysphagia, Dysesthesia, Bowel... |
ORPHA:93256 |
Chediak-Higashi Syndrome |
|
Periodontitis, Recurrent systemic pyogenic infections, Recurrent infections, Recurrent bacterial ... |
OMIM:214500 |
Lymphoid Interstitial Pneumonia |
|
Rheumatoid arthritis, Eczematoid dermatitis, Failure to thrive, Severe viral infection, Skin rash... |
ORPHA:79128 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
High, narrow palate, Bifid uvula, Long hallux, Cryptorchidism, Talipes equinovarus, Thin bony cor... |
OMIM:309583 |
Asthma, Short Stature, And Elevated Iga |
|
Short stature, Increased circulating IgA level |
OMIM:208600 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Weight loss, Dysphagia, Increased susceptibility to fractures, Aspiration pneumonia |
ORPHA:216866 |
Myeloma, Multiple |
|
Paraproteinemia, Multiple myeloma |
OMIM:254500 |
Johanson-Blizzard Syndrome |
|
Elevated gamma-glutamyltransferase level, Cryptorchidism, Elevated circulating alanine aminotrans... |
OMIM:243800 |
Orofaciodigital Syndrome Type 4 |
|
High, narrow palate, Bifid uvula, Severe short stature, Failure to thrive, Recurrent respiratory ... |
ORPHA:2753 |
Attrv30M Amyloidosis |
|
Atrioventricular block, Diarrhea, Cardiomyopathy, Arrhythmia, Constipation, Weight loss |
ORPHA:85447 |
Progeroid Short Stature With Pigmented Nevi |
|
Allergic rhinitis, Aortic valve stenosis, Vomiting, Recurrent viral infections, Impaired T cell f... |
OMIM:176690 |
Hermansky-Pudlak Syndrome |
|
Epistaxis, Gastrointestinal hemorrhage, Cardiomyopathy, Abnormal dental enamel morphology, Squamo... |
ORPHA:79430 |
Hypercholesterolemia, Familial, 2 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144010 |
Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment |
|
Severe short stature, Elevated circulating creatinine concentration |
OMIM:242530 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Hypotension, Diarrhea, Gastroesophageal reflux, Feeding difficulties in infancy, Constipation, At... |
OMIM:608643 |
Spondyloocular Syndrome |
|
Osteopenia, Overlapping toe, Decreased body weight, Arachnodactyly, Femur fracture, Long toe, Pes... |
OMIM:605822 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Recurrent bacterial infections |
OMIM:241410 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Generalized aminoaciduria, Decreased circulating carnitine concentration, Glycosuri... |
ORPHA:3337 |
Malt Lymphoma |
|
Posterior uveitis, Abnormality of the thyroid gland, Nausea and vomiting, B-cell lymphoma, Consti... |
ORPHA:52417 |
Mannosidosis, Alpha B, Lysosomal |
|
Recurrent bacterial infections, Decreased circulating antibody level |
OMIM:248500 |
Adenine Phosphoribosyltransferase Deficiency |
|
Abdominal pain, Elevated circulating creatinine concentration |
OMIM:614723 |
Thalidomide Embryopathy |
|
Insulin resistance, Preaxial hand polydactyly, Radial club hand, Aplasia/hypoplasia of the humeru... |
ORPHA:3312 |
Thyrotoxic Periodic Paralysis |
|
Postprandial hyperglycemia, Episodic hypokalemia, Second degree atrioventricular block, Graves di... |
ORPHA:79102 |
Yao Syndrome |
|
Uveitis, Inflammatory abnormality of the skin, Diarrhea, Xerostomia, Skin rash, Keratoconjunctivi... |
OMIM:617321 |
Hellp Syndrome |
|
Hypotension, Vomiting, Shoulder pain, Epigastric pain, Increased body weight, Nausea, Fatigue, In... |
ORPHA:244242 |
Pauci-Immune Glomerulonephritis |
|
Arteritis, Elevated circulating creatinine concentration, Pulmonary hemorrhage, Scleritis, Abnorm... |
ORPHA:93126 |
8P23.1 Microdeletion Syndrome |
|
Broad thumb, Growth delay, Hypertrophic cardiomyopathy, Obesity, Micrognathia, Intrauterine growt... |
ORPHA:251071 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hypotension, Vomiting, Abnormal circulating cholesterol concentration, Failure to thrive, Hyponat... |
ORPHA:168558 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Diarrhea, Vomiting, Hypomagnesemia, Small for... |
OMIM:601678 |
Hereditary Central Diabetes Insipidus |
|
Diarrhea, Vomiting, Weight loss, Diabetes insipidus, Growth delay |
ORPHA:30925 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Short stature, Recurrent fractures, Rickets, Glycosuria |
OMIM:268315 |
Encephalitis Lethargica |
|
Recurrent viral infections, Stiff neck, Increased circulating antibody level, Bradycardia, Bowel ... |
ORPHA:83600 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hypotension, Vomiting, Abnormal circulating cholesterol concentration, Failure to thrive, Hyponat... |
ORPHA:289548 |
Huppke-Brendel Syndrome |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration |
OMIM:614482 |
Bullous Pemphigoid |
|
Eczematoid dermatitis, Psoriasiform dermatitis, Weight loss, Recurrent infections, Diabetes mellitus |
ORPHA:703 |
Isaacs Syndrome |
|
Weight loss, Calf muscle hypertrophy |
ORPHA:84142 |
Acute Transverse Myelitis |
|
Severe viral infection, Invasive parasitic infection, Gastroparesis, Disseminated nontuberculous ... |
ORPHA:139417 |
Systemic Lupus Erythematosus |
|
Discoid lupus rash, Cheilitis, Leukopenia, Malar rash, Hypertension, Decreased circulating comple... |
ORPHA:536 |
Weill-Marchesani Syndrome 1 |
|
Aortic valve stenosis, Hypoplasia of the maxilla, Broad phalanges of the hand, Joint stiffness, M... |
OMIM:277600 |
Nodular Non-Suppurative Panniculitis |
|
Nausea and vomiting, Splenomegaly, Hepatomegaly, Weight loss, Inflammatory abnormality of the eye... |
ORPHA:33577 |
Papillorenal Syndrome |
|
Short stature, Elevated circulating creatinine concentration, Hypertension, Joint hypermobility |
OMIM:120330 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Microcolon, Sepsis, Umbilical hernia, Intestinal malrotation, Neoplasm of the heart, Nausea and v... |
ORPHA:2241 |
Glossopharyngeal Neuralgia |
|
Oral-pharyngeal dysphagia, Malnutrition, Schwannoma, Mandibular pain, Neoplasm, Syncope, Weight l... |
ORPHA:221098 |
Velocardiofacial Syndrome |
|
Velopharyngeal insufficiency, Impaired T cell function, Hypocalcemia, Submucous cleft hard palate... |
OMIM:192430 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Mycobacterium abscessus abscessus infection, Diarrhea, Disseminated nontuberculous mycobacterial ... |
ORPHA:411703 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Hepatosplenomegaly, Panniculitis, Weight loss, Hemophagocytosis |
ORPHA:86884 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Elevated circulating creatinine concentration, Gout, Hyperuricemia |
ORPHA:79233 |
Imerslund-Grasbeck Syndrome 2 |
|
Diarrhea, Recurrent urinary tract infections, Megaloblastic anemia, Anemia, Growth delay |
OMIM:618882 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Diarrhea, Vomiting, Hypomagnesemia, Small for... |
OMIM:241200 |
Gallbladder Neuroendocrine Tumor |
|
Biliary tract neoplasm, Elevated gamma-glutamyltransferase level, Neuroendocrine neoplasm, Anorex... |
ORPHA:100086 |
Pde4D Haploinsufficiency Syndrome |
|
Postnatal growth retardation, Hypotension, Obesity, Intrauterine growth retardation |
ORPHA:439822 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Goiter, Decreased thyroid-stimulating hormone level, Hypokalemia, Weight loss, Increased circulat... |
OMIM:613239 |
Osteogenesis Imperfecta, Type Xviii |
|
Umbilical hernia, Micrognathia, Femoral bowing, Joint hypermobility, Bowing of the long bones, Th... |
OMIM:617952 |
Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
Visceral Myopathy 1 |
|
Microcolon, Vomiting, Diarrhea, Intestinal pseudo-obstruction, Malnutrition, Gastroparesis, Megad... |
OMIM:155310 |
Serotonin Syndrome |
|
Hepatic failure, Diarrhea, Hypotension, Mydriasis, Nausea, Tachycardia, Hypertension |
ORPHA:43116 |
Juvenile Huntington Disease |
|
Weight loss |
ORPHA:248111 |
Fraser Syndrome 2 |
|
Intestinal malrotation, Hypoplasia of the thymus, Cutaneous syndactyly, Rectal atresia, Abdominal... |
OMIM:617666 |
Peritoneal Cystic Mesothelioma |
|
Neoplasm, Peritonitis, Constipation, Weight loss, Abdominal distention, Abdominal pain |
ORPHA:168816 |
Pyomyositis |
|
Testicular teratoma, Sepsis, Leukocytosis, Myositis, Weight loss, Recurrent infections, Sudden ca... |
ORPHA:764 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... |
OMIM:228930 |
Hyperferritinemia With Or Without Cataract |
|
Abnormal transferrin saturation, Decreased transferrin saturation, Abnormal circulating iron conc... |
OMIM:600886 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Bidirectional shunt, Microcolon, Ileal atresia, Pyelonephritis, Peritonitis, Abdominal distention... |
OMIM:619351 |
Bartter Syndrome, Type 3 |
|
Hypokalemia, Hypotension, Hyperchloriduria, Increased circulating renin level |
OMIM:607364 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Colon perforation, Microcolon, Pancreatic hypoplasia, Glycosuria, Umbilical hernia, Intestinal ma... |
OMIM:600001 |
Primary Hyperoxaluria Type 1 |
|
Failure to thrive, Recurrent urinary tract infections, Hyperoxaluria, Abnormal circulating enzyme... |
ORPHA:93598 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Elbow flexion contracture, Large for gestational age, Micrognathia, Malar flattening, Hip contrac... |
OMIM:300868 |
Nocardiosis |
|
Lymphadenitis, Scleritis, Weight loss, Anorexia, Meningitis, Endocarditis, Unusual CNS infection,... |
ORPHA:31204 |
Congenital Fiber-Type Disproportion Myopathy |
|
Aspiration pneumonia, Feeding difficulties, Micrognathia, Hip contracture, Talipes equinovarus, F... |
ORPHA:2020 |
Graves Disease |
|
Graves disease, Goiter, Congestive heart failure, Increased circulating free T3, Weight loss, Inc... |
OMIM:275000 |
Generalized Arterial Calcification Of Infancy |
|
Osteomalacia, Adrenal calcification, Pancreatic calcification, Abnormality of the knee, Fused cer... |
ORPHA:51608 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... |
OMIM:612422 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Macroglossia, Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy,... |
OMIM:261740 |
Oligomeganephronia |
|
Branchial cyst, Elevated circulating creatinine concentration, Micrognathia, Hypertension, Small ... |
ORPHA:2260 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis |
OMIM:166910 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Intraalveolar phospholipid accumulation, Increased circulating lactate dehydrogenase concentratio... |
ORPHA:747 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Palmoplantar keratoderma, Conjunctival hamartoma, Weight loss, Erythroderma, Poor appetite |
ORPHA:312 |
Senior-Loken Syndrome 1 |
|
Anemia, Elevated circulating creatinine concentration |
OMIM:266900 |
Familial Thrombocytosis |
|
Chronic myelogenous leukemia, Transient ischemic attack, Cerebral ischemia, Splenomegaly, Acute m... |
ORPHA:71493 |
Glutaric Acidemia Type 3 |
|
Elevated circulating glutaric acid concentration, Abnormal circulating enzyme concentration, Fail... |
ORPHA:35706 |
Granulomatosis With Polyangiitis |
|
Diffuse alveolar hemorrhage, Keratitis, Episcleritis, Localized pulmonary hemorrhage, Weight loss... |
OMIM:608710 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia, Elevated circulating luteinizing hormone level, Decreased circulating dehydroe... |
OMIM:250790 |
Carney Complex |
|
Follicular thyroid carcinoma, Increased body weight, Neoplasm of the rectum, Neoplasm of the phar... |
ORPHA:1359 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Goiter, Palpitations, Hypokalemia, Weight loss, Hyperthyroidism, Tachycardia |
OMIM:188580 |
Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Weight loss, ... |
ORPHA:97286 |
Huntington Disease-Like 1 |
|
Abnormal shoulder morphology, Weight loss |
ORPHA:157941 |
Idiopathic Copper-Associated Cirrhosis |
|
Cirrhosis, Hepatic steatosis, Increased circulating copper concentration, Copper accumulation in ... |
ORPHA:209919 |
Acute Liver Failure |
|
Pain insensitivity, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Hepatitis, Hypotension, Shoc... |
ORPHA:90062 |
Oculopharyngodistal Myopathy 1 |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Elevated cir... |
OMIM:164310 |
Niemann-Pick Disease Type C |
|
Hepatic failure, Aspiration pneumonia, Narcolepsy, Chorea, Gastrostomy tube feeding in infancy, P... |
ORPHA:646 |
Acrodermatitis Enteropathica |
|
Cheilitis, Failure to thrive, Furrowed tongue, Malabsorption, Pustule, Weight loss, Anorexia, Sho... |
ORPHA:37 |
Caffey Disease |
|
Cortical irregularity, Periosteal thickening of long tubular bones, Tibial bowing, Joint hypermob... |
OMIM:114000 |
Glucose-Galactose Malabsorption |
|
Diarrhea, Vomiting, Failure to thrive, Malnutrition, Hyperactive bowel sounds, Osmotic diarrhea, ... |
ORPHA:35710 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Cr... |
OMIM:276820 |
Narcolepsy 7 |
|
Narcolepsy, Obesity |
OMIM:614250 |
Thymic Carcinoma |
|
Neoplasm of the thymus, Weight loss, Mediastinal lymphadenopathy |
ORPHA:99868 |
Oromandibular Dystonia |
|
Abnormality of the temporomandibular joint, Weight loss, Dysphagia, Abnormal mandible morphology |
ORPHA:93958 |
Cryoglobulinemia, Familial Mixed |
|
Elevated circulating creatinine concentration, Hypertension, Cryoglobulinemia |
OMIM:123550 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Hypoxemia, Weight loss, Bronchiectasis, Clubbing |
ORPHA:79127 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Psoriasiform dermatitis, Abnormality of T cell physiology, Hypocalcemia, Severe postnatal growth ... |
ORPHA:2237 |
Norrie Disease |
|
Failure to thrive, Cryptorchidism, Malar flattening, Neoplasm of the eye, Cachexia, Delayed puber... |
ORPHA:649 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Keratitis, Eczematoid dermatitis, Recurrent respiratory infections, Episcleritis, Scleritis, Agan... |
ORPHA:2273 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Urinary incontinence, Narcolepsy, Ataxia |
ORPHA:314404 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Intestinal malrotation, Microcolon, Portal hypertension, Hepatic failure |
OMIM:619431 |
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Narcolepsy, Ataxia |
OMIM:604121 |
Gastrointestinal Stromal Tumor |
|
Neurofibroma, Intestinal obstruction, Gastrointestinal stroma tumor, Constipation, Large hands, D... |
OMIM:606764 |
Hereditary Hemorrhagic Telangiectasia |
|
Nasal mucosa telangiectasia, Telangiectasia, Cirrhosis, Visceral angiomatosis, Retinal telangiect... |
ORPHA:774 |
Prolactinoma |
|
Hypotension, Vomiting, Nausea and vomiting, Fatigue, Delayed puberty |
ORPHA:2965 |
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Abnormal circulating copper concentration, Pes planus |
ORPHA:521411 |
Tropical Pancreatitis |
|
Insulin-dependent but ketosis-resistant diabetes, Vomiting, Malnutrition, Pancreatic adenocarcino... |
ORPHA:103918 |
Zinc Deficiency, Transient Neonatal |
|
Eczematoid dermatitis, Decreased serum zinc |
OMIM:608118 |
Klatskin Tumor |
|
Jaundice, Weight loss, Cholangiocarcinoma, Lymphadenopathy, Hepatomegaly, Abdominal pain, Extrahe... |
ORPHA:99978 |
Hypouricemia, Renal, 1 |
|
Hypouricemia, Elevated circulating creatinine concentration |
OMIM:220150 |
Renal Nutcracker Syndrome |
|
Nausea, Syncope, Weight loss, Orthostatic hypotension, Anemia, Abdominal pain, Tachycardia |
ORPHA:71273 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Elevated circulating creatinine concentration, Overlapping toe, Cyanosis, Systolic heart murmur |
OMIM:617478 |
Atrial Septal Defect, Coronary Sinus Type |
|
Recurrent bacterial infections, Pneumonia |
ORPHA:99104 |
Pemphigus Vulgaris |
|
Feeding difficulties in infancy, Weight loss, Recurrent infections, Recurrent cutaneous abscess f... |
ORPHA:704 |
Liposarcoma |
|
Abdominal pain, Sarcoma, Weight loss, Nausea and vomiting |
ORPHA:69078 |
Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Paraganglioma of head and neck, Chemodectoma, Palpitations, Hypertension associated with pheochro... |
OMIM:115310 |
Cysticercosis |
|
Stiff neck, Infectious encephalitis, Increased circulating antibody level, Iridocyclitis, Increas... |
ORPHA:1560 |
Fatal Familial Insomnia |
|
Constipation, Dysphagia, Weight loss |
OMIM:600072 |
Narcolepsy 1 |
|
Narcolepsy |
OMIM:161400 |
Narcolepsy 3 |
|
Narcolepsy |
OMIM:609039 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Microcolon, Sepsis, Abdominal distention |
OMIM:619362 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Hypoalbuminemia, Recurrent respiratory infections |
OMIM:614748 |
Congenital Tricuspid Stenosis |
|
Hypotension, Congestive heart failure, Tricuspid regurgitation, Pulmonary arterial hypertension, ... |
ORPHA:95459 |
Atrial Septal Defect, Ostium Secundum Type |
|
Recurrent bacterial infections, Pneumonia |
ORPHA:99103 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Rickets |
OMIM:219900 |
Homozygous Familial Hypercholesterolemia |
|
Increased LDL cholesterol concentration, Supravalvular aortic stenosis, Mitral regurgitation, Hep... |
ORPHA:391665 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Aortic valve stenosis, Aortic regurgitation, Increased circulating antibody level |
OMIM:114065 |
Non-Acquired Panhypopituitarism |
|
Hypotension, Pituitary dwarfism, Constipation, Delayed puberty, Fatigue, Short stature, Growth delay |
ORPHA:90695 |
Gist-Plus Syndrome |
|
Gastrointestinal stroma tumor, Intestinal polyposis, Intussusception |
OMIM:175510 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus, Pancreatic hypoplasia, Glycosuria, Failure to thriv... |
ORPHA:99885 |
Sacral Defect With Anterior Meningocele |
|
Constipation, Rectal abscess, Meningitis, Sacral lipoma, Back pain |
OMIM:600145 |
Goodpasture Syndrome |
|
Pulmonary hemorrhage, Cyanosis, Weight loss, Glomerulonephritis, Increased blood urea nitrogen, A... |
OMIM:233450 |
Hereditary Late-Onset Parkinson Disease |
|
Orthostatic hypotension due to autonomic dysfunction, Weight loss, Dysphagia, Chronic constipation |
ORPHA:411602 |
Hereditary Orotic Aciduria |
|
Recurrent respiratory infections, Patent ductus arteriosus, Impaired T cell function |
ORPHA:30 |
Renal Tubular Dysgenesis |
|
Hypotension |
OMIM:267430 |
Craniotubular Dysplasia, Ikegawa Type |
|
Broad femoral neck, Sclerosis of skull base, Diaphyseal dysplasia, Broad ischia, Thin bony cortex... |
OMIM:619727 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Hypotension, Median cleft palate, Pituitary dwarfism, Constipation, Delayed puberty, Fatigue, Gro... |
ORPHA:95494 |
Perry Syndrome |
|
Weight loss |
OMIM:168605 |
Faciocardiomelic Syndrome |
|
Osteopenia, Dental malocclusion, Slender long bone, Hyperplasia of the maxilla, Large for gestati... |
OMIM:612731 |
Penile Agenesis |
|
Anorectal anomaly, Anal atresia, Tracheoesophageal fistula, Rectal fistula |
ORPHA:49 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Activating thyroid-stimulating hormone receptor defect, Diarrhea, Thyroid hyperplasia, Goiter, We... |
ORPHA:424 |
Meconium Ileus |
|
Microcolon, Chronic diarrhea, Meconium ileus |
OMIM:614665 |
Truncus Arteriosus |
|
Aortic regurgitation, Aplasia/hypoplasia involving bones of the extremities, Intrauterine growth ... |
ORPHA:3384 |
Pancreatoblastoma |
|
Vomiting, Diarrhea, Abnormal lymph node morphology, Pancreatic calcification, Jaundice, Weight lo... |
ORPHA:677 |
Familial Gestational Hyperthyroidism |
|
Activating thyroid-stimulating hormone receptor defect, Diarrhea, Thyroid hyperplasia, Goiter, We... |
ORPHA:99819 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Recurrent aspiration pneumonia, Fasciitis, Osteomyelitis, Septic arthritis, Recurrent Staphylococ... |
ORPHA:642 |
Gerstmann-Straussler Disease |
|
Weight loss |
OMIM:137440 |
Parkinson Disease 4, Autosomal Dominant |
|
Weight loss, Orthostatic hypotension |
OMIM:605543 |
Acquired Central Diabetes Insipidus |
|
Diabetes insipidus, Weight loss |
ORPHA:95626 |