Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... |
OMIM:618534 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
Immunodeficiency 52 |
|
Recurrent pneumonia, Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia,... |
OMIM:617514 |
Autoimmune Lymphoproliferative Syndrome |
|
Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Autoimmune hemolytic ane... |
OMIM:601859 |
Immunodeficiency 27A |
|
Pneumonia, Diarrhea, Enlarged mesenteric lymph node, Anorexia, Hepatosplenomegaly, Leukocytosis, ... |
OMIM:209950 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Immunodeficiency 24 |
|
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:615897 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Diarrhea, Failure to thrive, Recurrent otitis media, Decreased CD4:CD8 ratio, Splenomegaly, Autoi... |
OMIM:618495 |
Caspase 8 Deficiency |
|
Pneumonia, Decreased circulating IgG level, Failure to thrive, Eczematoid dermatitis, Decreased c... |
OMIM:607271 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic anemia, Lymphadenopathy, N... |
OMIM:619220 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Increased circulati... |
ORPHA:169154 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Increased circulating IgE level, Recurrent otitis media, Hepatosplen... |
OMIM:618982 |
Immunodeficiency, Common Variable, 11 |
|
Decreased circulating IgG level, Abnormal T cell count, Inflammation of the large intestine, Fail... |
OMIM:615767 |
Immunodeficiency 25 |
|
Recurrent pneumonia, Protracted diarrhea, Increased circulating IgE level, Complete or near-compl... |
OMIM:610163 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Follicular hyperplasia, Increased circulating IgA level, Hepatomegaly, Autoimmune thrombocytopeni... |
OMIM:603909 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Pancytopenia, Splenomegaly, Follicular hyperplasia, Increased circulating antibody level, Hepatom... |
OMIM:614470 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Diarrhea, Enteroviral encephalitis, Increased circulating IgA level, Cirrhosis, Neutropenia, Hepa... |
OMIM:308230 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pneumonia, Decrea... |
OMIM:619281 |
Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Hepatosplenomegaly, Abnormal natural killer cell physiology, Splenomegaly, Recu... |
OMIM:613101 |
Severe Combined Immunodeficiency, X-Linked |
|
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Failure to thrive, Decreased cir... |
OMIM:300400 |
Immunoerythromyeloid Hypoplasia |
|
Erythroid hypoplasia, Decreased circulating IgG level |
OMIM:242880 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium, Abdominal distent... |
OMIM:616868 |
Immunodeficiency 97 With Autoinflammation |
|
Diarrhea, Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosple... |
OMIM:619802 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating ... |
OMIM:615285 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Decreased specific pneumococcal antibody level, Minimal change glomerulonephritis, Impaired lymph... |
OMIM:617006 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Decreased circulating IgG level, Inflammation of the large intestine, Failure to thrive, Eczemato... |
ORPHA:98813 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level, Abnormality of the liver, Absence of lymph node germinal center |
OMIM:235550 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating IgG level, Decreased proportion of memory B cells, Bronchiectasis, Decrease... |
OMIM:618394 |
Inflammatory Bowel Disease 29 |
|
Ulcerative colitis, Crohn's disease |
OMIM:618077 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Diarrhea, Failure to thrive in infancy, Leukocytosis, Chronic diarrhea, Panniculitis, Skin rash, ... |
OMIM:617099 |
Immunodeficiency 18 |
|
Reduced natural killer cell count, Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Abno... |
OMIM:615615 |
Immunodeficiency 95 |
|
Decreased circulating IgG3 level, Lymphopenia, Recurrent viral pneumonia, Increased circulating I... |
OMIM:619773 |
Immunodeficiency 105 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina... |
OMIM:619924 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hemophagocytosis, Hepatitis, ... |
OMIM:300635 |
Immunodeficiency 70 |
|
Decreased circulating total IgG, Celiac disease, Decreased proportion of CD4-positive helper T ce... |
OMIM:618969 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Decreased proportion of memory B cells, Failure to thrive, Abnormal circulating IgM level, Neutro... |
OMIM:618048 |
Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgG level, Abnormal T cell count, Diarrhea, Recurrent pneumonia, Impaired T... |
OMIM:240500 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Abnormality of humoral immunity, Diarrhea, Inflammatory abnormality of the skin, Absence of lymph... |
ORPHA:277 |
Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Diarrhea, Recurrent pneumonia,... |
OMIM:607594 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:619824 |
Inflammatory Bowel Disease 13 |
|
Inflammation of the large intestine |
OMIM:612244 |
Inflammatory Bowel Disease (Crohn Disease) 19 |
|
Inflammation of the large intestine |
OMIM:612278 |
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 |
Immunodeficiency 10 |
|
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... |
OMIM:612783 |
Immunodeficiency, Common Variable, 7 |
|
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul... |
OMIM:614699 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina... |
OMIM:606843 |
Refractory Celiac Disease |
|
Normocytic anemia, Protein-losing enteropathy, Hypoalbuminemia, Jejunitis, Microcytic anemia, Hyp... |
ORPHA:398063 |
Histiocytosis, Familial Lipochrome |
|
Histiocytosis, Increased circulating antibody level |
OMIM:235900 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Secretory Component Deficiency |
|
Chronic intestinal candidiasis, Intermittent diarrhea, Secretory IgA deficiency |
OMIM:269650 |
Immunodeficiency 57 With Autoinflammation |
|
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... |
OMIM:618108 |
Immunodeficiency 48 |
|
Pneumonia, Failure to thrive, Eczematoid dermatitis, Panhypogammaglobulinemia, Abnormal B cell co... |
OMIM:269840 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cervical l... |
OMIM:618987 |
Immunodeficiency 37 |
|
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... |
OMIM:616098 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... |
OMIM:616452 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... |
OMIM:267700 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Hematochezia, Folliculitis, Pyoderma, Oral ulcer, Crohn's disease, Perianal abscess, Enterocoliti... |
OMIM:613148 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T... |
OMIM:615513 |
Ficolin 3 Deficiency |
|
Recurrent lower respiratory tract infections, Necrotizing enterocolitis |
OMIM:613860 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Diarrhea, Failure to thrive, Recurrent otitis media, Agammaglobulinemia, Absent circulating B cel... |
OMIM:613501 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Colonic eosinophil... |
OMIM:617638 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Increased circulating IgA level, Glomerulonephritis, Thrombocytopenia |
OMIM:314000 |
Autoinflammation With Infantile Enterocolitis |
|
Reduced natural killer cell count, Secretory diarrhea, Failure to thrive, Pancytopenia, Villous a... |
OMIM:616050 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Decreased circulating IgG level, Diarrhea, Eczematoid dermatitis, Lymphopenia... |
OMIM:616100 |
Immunoglobulin A Deficiency 2 |
|
Abnormal lymphocyte morphology, Decreased circulating IgA level, Recurrent infection of the gastr... |
OMIM:609529 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Aphthous ulcer, Int... |
OMIM:266600 |
Mu-Heavy Chain Disease |
|
Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Weight l... |
ORPHA:100024 |
Reticular Dysgenesis |
|
Diarrhea, Aplasia/Hypoplasia of the thymus, Failure to thrive, Leukopenia, Malabsorption, Skin ra... |
ORPHA:33355 |
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes |
|
Decreased circulating IgG level, T lymphocytopenia |
OMIM:242870 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... |
OMIM:605258 |
Diamond-Blackfan Anemia 19 |
|
Anemia, Erythroid hypoplasia, Steroid-responsive anemia |
OMIM:618312 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibod... |
OMIM:247800 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Inflammation of the large intestine, Diarrhea, Psoriasiform dermatitis, Hepatomegaly, Autoimmune ... |
ORPHA:436159 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Leukocytosis, Ulcerative colitis, Bloody diarrhea |
OMIM:619398 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating IgG level, Protein-losing enteropathy, Recurrent pneumonia, Recurrent otiti... |
OMIM:613502 |
Inflammatory Bowel Disease 3 |
|
Ulcerative colitis |
OMIM:604519 |
Inflammatory Bowel Disease 21 |
|
Ulcerative colitis |
OMIM:612354 |
Immunodeficiency 112 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Chronic mucocutaneous candidi... |
OMIM:620449 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased lymphocyte proliferation in response to anti-CD3, Increased circulating IgE level, Hepa... |
OMIM:606367 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Failure to thrive, Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Punctate keratit... |
OMIM:617388 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Pneumonia, Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mit... |
ORPHA:169160 |
Immunodeficiency 76 |
|
Recurrent pneumonia, Lymphopenia, Splenomegaly, Chronic diarrhea, Lymphadenopathy, B lymphocytope... |
OMIM:619164 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... |
OMIM:614700 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T cells, Hepa... |
ORPHA:911 |
Immunodeficiency, Common Variable, 3 |
|
Abnormal T cell count, Chronic decreased circulating total IgG, Recurrent otitis media, Decreased... |
OMIM:613493 |
Immunodeficiency, Common Variable, 5 |
|
Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count |
OMIM:613495 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hepatitis, Recurrent otitis media, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lympha... |
ORPHA:444463 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating IgG level, Recurrent pneumonia, Diarrhea, Recurrent otitis media, Decreased... |
OMIM:612692 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion |
OMIM:183350 |
Immunodeficiency 15B |
|
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Fai... |
OMIM:615592 |
Lymphoma, Hodgkin, Classic |
|
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin |
OMIM:236000 |
Immunodeficiency 104 |
|
Pneumonia, Diarrhea, Gastroesophageal reflux, Eczematoid dermatitis, Failure to thrive secondary ... |
OMIM:608971 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... |
OMIM:619632 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Hepatitis, Failure to thrive, Eczematoid dermatitis, Increased circulating IgE level, Decreased F... |
OMIM:304790 |
Immunodeficiency 109 With Lymphoproliferation |
|
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho... |
OMIM:620282 |
Boutonneuse Fever |
|
Diarrhea, Cervical lymphadenopathy, Leukopenia, Skin rash, Maculopapular exanthema, Nausea, Abdom... |
ORPHA:83313 |
Pgm3-Cdg |
|
Allergic rhinitis, Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Esophagi... |
ORPHA:443811 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... |
OMIM:603553 |
Hyper-Igd Syndrome |
|
Diarrhea, Lymphadenitis, Vomiting, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Skin rash, Inc... |
OMIM:260920 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced natural killer c... |
OMIM:619510 |
Alpha-Heavy Chain Disease |
|
Abnormal small intestine morphology, Hypocalcemia, Splenomegaly, Hepatomegaly, Lymphadenopathy, A... |
ORPHA:100025 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Abnor... |
ORPHA:331206 |
Immunodeficiency 51 |
|
Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous absc... |
OMIM:613953 |
Neutropenia, Chronic Familial |
|
Periodontitis, Neutropenia, Increased circulating antibody level |
OMIM:162700 |
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 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Eczematoid dermatitis, Increased circulating IgE level, Decreased proportion of CD8-positive T ce... |
OMIM:617241 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Recurrent sinusitis,... |
OMIM:613494 |
Salivary Gland Adenoma, Pleomorphic |
|
Salivary gland neoplasm |
OMIM:181030 |
Primary Intestinal Lymphangiectasia |
|
Hypoalbuminemia, Increased stool alpha1-antitrypsin concentration, Peritoneal effusion, Intestina... |
ORPHA:90362 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Abnormally low T cell receptor excision circle level, Pneumonia, Failure to thrive, Panhypogammag... |
OMIM:602450 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Failure to thrive, Pustular rash, Lymphopenia, Leukopenia, Malar rash, Follicular hyperplasia, Sk... |
OMIM:615934 |
Immunodeficiency 115 With Autoinflammation |
|
Decreased circulating IgG level, Eczematoid dermatitis, Intestinal lymphangiectasia, Intermittent... |
OMIM:620632 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... |
OMIM:608106 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Diarrhea, Failure to thrive, Failure to thrive secondary to recurrent infections, Panh... |
OMIM:601457 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive... |
ORPHA:3261 |
Reticular Dysgenesis |
|
Impaired T cell function, Lack of T cell function, Lymphopenia, Congenital agranulocytosis, Leuko... |
OMIM:267500 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Colitis, Diarrhea |
OMIM:219095 |
Combined Immunodeficiency, X-Linked |
|
Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-po... |
OMIM:312863 |
Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Hematochezia, Minimal change glomerulonephritis, Hepatitis, Eczematoid dermatitis, Increased circ... |
OMIM:620565 |
Immunodeficiency, Common Variable, 14 |
|
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... |
OMIM:617765 |
Immunodeficiency 102 |
|
Decreased proportion of CD4-positive helper T cells, Hepatomegaly, Recurrent skin infections, Aut... |
OMIM:301082 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Folliculitis, Recurrent bronchitis, Pancolitis, Perianal abscess, Enterocutaneous fistula, Entero... |
OMIM:612567 |
Aicardi-Goutieres Syndrome 6 |
|
Splenomegaly, Chilblains, Increased circulating Interferon-alpha concentration, Thrombocytopenia,... |
OMIM:615010 |
Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia |
OMIM:613978 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy... |
OMIM:153600 |
Transient Erythroblastopenia Of Childhood |
|
Anemia, Transient erythroblastopenia |
OMIM:227050 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Agammaglobulinemia,... |
OMIM:613500 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Ileal atresia, Colonic atresia, Lymphopenia, Psoriasiform dermatitis, Intestinal obstruction, Rec... |
OMIM:243150 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of... |
OMIM:212050 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Osteopenia, Hypocholesterolemia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia |
OMIM:610539 |
Immunodeficiency 44 |
|
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... |
OMIM:616636 |
Immunodeficiency 46 |
|
Failure to thrive, Chronic diarrhea, Neutropenia, Chronic oral candidiasis, Anemia, Conjunctiviti... |
OMIM:616740 |
Cheilitis Glandularis |
|
Abnormal salivary gland morphology, Thick lower lip vermilion |
ORPHA:1221 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Acute pancreatitis, Recurrent pneumonia, Recurrent tonsillitis, Granuloma, Lymphadenitis, Eczemat... |
OMIM:618935 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Decreased circulating IgG level, Abnormal T cell count, Hepatic failure, Aplastic anemia, Hemopha... |
OMIM:308240 |
Activated Pi3K-Delta Syndrome |
|
Pneumonia, Recurrent tonsillitis, Failure to thrive, Recurrent otitis media, Decreased circulatin... |
ORPHA:397596 |
Citrullinemia Type Ii |
|
Abnormal eating behavior, Hepatic steatosis, Hepatomegaly, Delirium, Restlessness, Mania, Hypopro... |
ORPHA:247585 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Recurren... |
OMIM:619707 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoalbuminemia, Pulmonary embolism, Intestinal lymphangiectasia, Budd-Chiari syndrome, Intestina... |
OMIM:226300 |
Immunodeficiency 40 |
|
Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Interm... |
OMIM:616433 |
Mhc Class Ii Deficiency 1 |
|
Cutaneous anergy, Failure to thrive, Chronic mucocutaneous candidiasis, Panhypogammaglobulinemia,... |
OMIM:209920 |
Immunodeficiency 92 |
|
Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta... |
OMIM:619652 |
Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro... |
OMIM:616005 |
Progressive Familial Intrahepatic Cholestasis |
|
Cholestasis, Splenomegaly, Hypocalcemia, Cognitive impairment, Hepatomegaly, Jaundice, Reduced bo... |
ORPHA:172 |
Ménétrier Disease |
|
Hypoalbuminemia, Gastrointestinal hemorrhage, Gastroesophageal reflux, Stomach cancer, Abnormal g... |
ORPHA:2494 |
Wiskott-Aldrich Syndrome |
|
Inflammation of the large intestine, Diarrhea, Increased circulating IgE level, Abnormal delayed ... |
OMIM:301000 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat... |
OMIM:611926 |
Transcobalamin Deficiency |
|
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Pancytopenia, Neut... |
ORPHA:859 |
Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Hypochromic anemia, Anoperineal fistula, Failure to thrive, Increased circulating IgE level, Leuk... |
OMIM:618213 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... |
OMIM:615559 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruction, Per... |
ORPHA:343 |
Angiostrongyliasis |
|
Vomiting, Hypereosinophilia, Increased circulating specific IgE antibody, Nausea, Abdominal pain,... |
ORPHA:74 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Decreased circulating IgG level, Atopic dermatitis, Cutaneous abscess, Increased circulating IgE ... |
OMIM:618944 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Ventricular septal defect, Arrhythmia, Atrial septal... |
ORPHA:26793 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Pneumonia, Cutaneous anergy, Absent natural killer cells, Failure to thrive, Decreased lymphocyte... |
OMIM:600802 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Bone marrow hypocellularity, Leukopenia, Colitis, Decreased circulating antibody level, Esophagea... |
OMIM:615190 |
Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia, Lymphopenia, Intestinal lymphangiectasia |
OMIM:152800 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hypoalbuminemia, Portal fibrosis, Increased total bilirubin, Splenomegaly, Increased serum bile a... |
OMIM:619868 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Abnormal salivary gland morphology |
ORPHA:3225 |
Immunodeficiency 86 |
|
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level |
OMIM:619549 |
Autoimmune Disease, Multisystem, Infantile-Onset, 3 |
|
Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ... |
OMIM:620430 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hematochezia, Inflammation of the large intestine, Dilated cardiomyopathy, Lymphadenitis, Hepatic... |
OMIM:615895 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal... |
OMIM:619079 |
Iga Pemphigus |
|
Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Eosinophilia, Increased circul... |
ORPHA:555905 |
Melioidosis |
|
Pneumonia, Foot osteomyelitis, Cutaneous abscess, Parotitis, Hepatitis, Respiratory tract infecti... |
ORPHA:31202 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level |
OMIM:616911 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
Immunodeficiency 32B |
|
Pneumonia, Failure to thrive, Impaired oxidative burst, Abnormal circulating IgG level, Splenomeg... |
OMIM:226990 |
Leishmaniasis |
|
Pancytopenia, Leukopenia, Abnormal macrophage morphology, Splenomegaly, Increased circulating ant... |
ORPHA:507 |
Wolman Disease |
|
Hepatic failure, Malnutrition, Ascites, Nausea and vomiting, Splenomegaly, Hepatomegaly, Cachexia... |
ORPHA:75233 |
Immunodeficiency 22 |
|
Decreased circulating IgG level, Diarrhea, Failure to thrive, Protracted diarrhea, Ascites, Decre... |
OMIM:615758 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... |
ORPHA:888 |
Dengue Fever |
|
Epistaxis, Gastrointestinal hemorrhage, Hypotension, Leukopenia, Lethargy, Thrombocytopenia, Cere... |
ORPHA:99828 |
Immunodeficiency 62 |
|
Decreased circulating IgG level, Decreased proportion of memory B cells, Complete or near-complet... |
OMIM:618459 |
Multiple Myeloma |
|
Functional abnormality of the gastrointestinal tract, Splenomegaly, Increased circulating IgA lev... |
ORPHA:29073 |
Schnitzler Syndrome |
|
Leukocytosis, Splenomegaly, Skin rash, Hepatomegaly, Lymphadenopathy, Arthritis, Anemia, Increase... |
ORPHA:37748 |
Hepatoportal Sclerosis |
|
Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Gastrointestinal hemorrhage, Periport... |
ORPHA:64743 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur... |
ORPHA:35078 |
Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
Mantle Cell Lymphoma |
|
Splenomegaly, Abnormality of the gastrointestinal tract, Weight loss, Lymphadenopathy, Anorexia |
ORPHA:52416 |
Lymphoproliferative Syndrome 3 |
|
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... |
OMIM:618261 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, A... |
ORPHA:37042 |
Trichothiodystrophy 3, Photosensitive |
|
Meckel diverticulum, Failure to thrive, Lymphopenia, Increased circulating IgA level, Abdominal a... |
OMIM:616395 |
Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Insulin resistance, Hepatosplenomegaly, Splenomegaly, Hypocalcemia, Hepatic steatosis, Hyperchole... |
OMIM:612526 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia, Hypoproteinemia, Intestinal lymphangiectasia |
OMIM:207731 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Absence of lymph node germinal center, Osteomyelitis, Recurrent infection of the gastrointestinal... |
OMIM:608184 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Immunodeficiency 69 |
|
Diarrhea, Hemophagocytosis, Failure to thrive, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Sp... |
OMIM:618963 |
Myopathy, Tubular Aggregate, 2 |
|
Ankle flexion contracture, Falls, Hypocalcemia, Elevated circulating creatine kinase concentratio... |
OMIM:615883 |
Immunodeficiency 82 With Systemic Inflammation |
|
Diarrhea, Decreased circulating total IgG, Anoperineal fistula, Pustular rash, Recurrent otitis m... |
OMIM:619381 |
Porphyria, Acute Hepatic |
|
Abdominal colic, Vomiting, Hemolytic anemia, Failure to thrive |
OMIM:612740 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Constipation, Enterocoliti... |
OMIM:142623 |
Inflammatory Bowel Disease 11 |
|
Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain |
OMIM:191390 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased circulating IgA level, Interstitial pneumonitis, Enterocolitis, Decreased proportion of... |
OMIM:614878 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Abnormal heart morphology, T lymphocytopenia, Hypocalcemia |
DECIPHER:16 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hemophagocytosis, Erythroderma, Neutropenia, Hepatomegaly, Reduced natural killer cell activity, ... |
ORPHA:540 |
Immunodeficiency 50 |
|
Lymphopenia, Decreased circulating antibody level, Eczematoid dermatitis, Neutropenia |
OMIM:300988 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Absent... |
OMIM:619846 |
5-Oxoprolinase Deficiency |
|
Diarrhea, Abdominal pain, Vomiting, Enterocolitis |
OMIM:260005 |
Chédiak-Higashi Syndrome |
|
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Cognitive impairment, Neutropenia, Ataxia, Ja... |
ORPHA:167 |
Kimura Disease |
|
Increased circulating IgE level, Follicular hyperplasia, Eosinophilia, Lymphadenopathy, Abnormal ... |
ORPHA:482 |
Sodium-Dependent Multivitamin Transporter Deficiency |
|
Decreased circulating IgG level, Episodic vomiting, Gastrostomy tube feeding in infancy |
OMIM:618973 |
Autoimmune Hypoparathyroidism |
|
Depression, Hyperphosphatemia, Hypocalcemic tetany, Confusion, Hypocalcemia, Irritability, Prolon... |
ORPHA:36913 |
Linear Iga Dermatosis |
|
Inflammation of the large intestine, Oral ulcer |
ORPHA:46488 |
Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis |
OMIM:607624 |
Immunodeficiency 114, Folate-Responsive |
|
Decreased circulating IgG level, Atopic dermatitis, Increased circulating IgE level, Lymphopenia,... |
OMIM:620603 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration |
ORPHA:231249 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... |
OMIM:202700 |
Epidermolysis Bullosa Acquisita |
|
Abdominal pain, Inflammation of the large intestine |
ORPHA:46487 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Abnormality of humoral immunity, Abnormal CD4:CD8 ratio, Diarrhea, Protracted diarrhea, Pancytope... |
ORPHA:572 |
Atypical Hemolytic Uremic Syndrome |
|
Decreased circulating complement factor B concentration, Abnormality of complement system, Microa... |
ORPHA:2134 |
Lymphoproliferative Syndrome 1 |
|
Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion... |
OMIM:613011 |
Eosinophilic Gastroenteritis |
|
Hypoalbuminemia, Protein-losing enteropathy, Hematochezia, Leukocytosis, Anemia, Abnormality of t... |
ORPHA:2070 |
Common Variable Immunodeficiency |
|
Pneumonia, Bronchiectasis, Failure to thrive in infancy, Lymphopenia, Abnormality of the liver, D... |
ORPHA:1572 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hypoalbuminemia, Broad-based gait, Dilated cardiomyopathy, Microcytic anemia, Hepatic steatosis, ... |
OMIM:618805 |
Idiopathic Achalasia |
|
Gastroesophageal reflux, Bronchitis, Malnutrition, Recurrent aspiration pneumonia, Dysphagia |
ORPHA:930 |
Autoimmune Hepatitis |
|
Inflammation of the large intestine, Gastrointestinal hemorrhage, Viral hepatitis, Ascites, Splen... |
ORPHA:2137 |
Immunodeficiency 9 |
|
Decreased circulating IgG level, Failure to thrive, Lymphopenia, Decreased circulating IgA level,... |
OMIM:612782 |
Omenn Syndrome |
|
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Lymphadenopathy, Thro... |
OMIM:603554 |
Desmoplastic Small Round Cell Tumor |
|
Ascites, Ileus, Nausea and vomiting, Hepatomegaly, Cachexia, Weight loss, Lymphadenopathy, Abnorm... |
ORPHA:83469 |
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, Increased circulating IgE level, Lymphopenia, Apl... |
OMIM:102700 |
Johanson-Blizzard Syndrome |
|
Anteriorly placed anus, Exocrine pancreatic insufficiency, Dextrocardia, Abnormal cardiac septum ... |
ORPHA:2315 |
Acute Erythroid Leukemia |
|
Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, E... |
ORPHA:318 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Hypoproteinemia |
ORPHA:1116 |
Igg4-Related Aortitis |
|
Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat... |
ORPHA:449400 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypoalbuminemia, Microcytic anemia, Hepatosplenomegaly, Hepatic steatosis, Joint hypermobility, H... |
OMIM:619013 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Abnormal form of the vertebral bodies, Abnormal hemoglobin, Decreased skull ossification, Short n... |
ORPHA:3319 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Failure to thrive, Ecz... |
OMIM:242700 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Allergic rhinitis, Atopic dermatitis, Reduced natural killer cell count, Recurrent pneumonia, Cut... |
OMIM:243700 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumonia, Decreased circulating IgG level, Diarrhea, Decreased circulating IgA level, B lymphocy... |
OMIM:614069 |
Cronkhite-Canada Syndrome |
|
Gastrointestinal carcinoma, Diarrhea, Furrowed tongue, Malabsorption, Stomach cancer, Splenomegal... |
ORPHA:2930 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Diarrhea, Failure to thrive... |
ORPHA:83471 |
Primary Myelofibrosis |
|
Extramedullary hematopoiesis, Anorexia, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomeg... |
ORPHA:824 |
Pseudohypoparathyroidism Type 1B |
|
Depression, Hyperphosphatemia, Hypocalcemic tetany, Increased bone density with cystic changes, H... |
ORPHA:94089 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Absent circulating immunoglobulin kappa chain, Diarrhea, Chronic diarrhea |
OMIM:614102 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Sterile abscess, Thrombocytosis, Arthritis, ... |
OMIM:604416 |
Isolated Congenital Hypoglossia/Aglossia |
|
Microglossia, Aspiration pneumonia, Gastrostomy tube feeding in infancy, Nasogastric tube feeding... |
ORPHA:141152 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia |
OMIM:206400 |
Nephrotic Syndrome, Type 7 |
|
Hypoalbuminemia, Hemolytic anemia, Thrombocytopenia |
OMIM:615008 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypoalbuminemia, Mental deterioration, Limb ataxia, Gait ataxia, Elevated circulating creatine ki... |
OMIM:208920 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Recurrent ... |
OMIM:618986 |
Immunodeficiency 96 |
|
Decreased circulating IgG level, Increased mean corpuscular volume, Increased proportion of gamma... |
OMIM:619774 |
Immunodeficiency 17 |
|
Abnormal B cell morphology, Anoperineal fistula, Failure to thrive, Eczematoid dermatitis, Chroni... |
OMIM:615607 |
Heinz Body Anemias |
|
Heinz bodies, Nonspherocytic hemolytic anemia, Heinz body anemia |
OMIM:140700 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Decreased circulating IgG level, Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, ... |
OMIM:301078 |
Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Abnormal macrophage morphology, Hypopl... |
ORPHA:2585 |
Pseudomyxoma Peritonei |
|
Inflammation of the large intestine, Ascites, Nausea and vomiting, Intestinal obstruction, Consti... |
ORPHA:26790 |
Focal Segmental Glomerulosclerosis 1 |
|
Anemia, Hypertension, Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Immunodeficiency 43 |
|
Hypoalbuminemia, Reduced natural killer cell count, Decreased circulating beta-2-microglobulin le... |
OMIM:241600 |
Macrophage Activation Syndrome |
|
Hypoalbuminemia, Hemophagocytosis, Hepatitis, Increased circulating ferritin concentration, Splen... |
ORPHA:158061 |
Immunodeficiency 11A |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... |
OMIM:615206 |
Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level, Malabsorption, Recurrent infection of the gastrointestinal tract |
OMIM:137100 |
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 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hemophagocytosis, Hepatosplenomegaly, Anemia, Reduced natural killer cell activity, Granulocytopenia |
OMIM:608898 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating IgG level, Lymphopenia, Leukopenia, Splenomegaly, Hepatomegaly, Decreased c... |
OMIM:620210 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Protein-losing enteropathy, Pancreatic lymphangiectasis, Splenomegaly, Hypocalcemia, Ventricular ... |
OMIM:235255 |
Tularemia |
|
Pneumonia, Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal ad... |
ORPHA:3392 |
Aggressive Systemic Mastocytosis |
|
Diarrhea, Hypersplenism, Hepatosplenomegaly, Pancytopenia, Weight loss, Neutropenia, Anorexia, Le... |
ORPHA:98850 |
Gitelman Syndrome |
|
Type II diabetes mellitus, Ventricular fibrillation, Prolonged PR interval, Polydipsia, Glucose i... |
ORPHA:358 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function |
ORPHA:231393 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed epiphyseal ossification, Hypochromic anemia, Rickets, Cardiomyopathy, Osteomalacia, Diffi... |
ORPHA:289157 |
Candidiasis, Familial, 1 |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:114580 |
Multicentric Reticulohistiocytosis |
|
Cachexia, Histiocytosis, Arthritis |
ORPHA:139436 |
Neuroleptic Malignant Syndrome |
|
Hyperphosphatemia, Arrhythmia, Delirium, Tachycardia, Hyperkalemia, Dysphagia, Hypocalcemia, Brad... |
ORPHA:94093 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Type I diabetes mellitus, Depression, Hypocholesterolemia, Abnormal erythrocyte morphology, Acant... |
ORPHA:96180 |
Immunodeficiency 16 |
|
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly |
OMIM:615593 |
Immunodeficiency 23 |
|
Allergic rhinitis, Failure to thrive, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, I... |
OMIM:615816 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hypoalbuminemia, Protein-losing enteropathy, Cholestasis, Elevated circulating creatinine concent... |
OMIM:608104 |
Osteopetrosis, Autosomal Recessive 1 |
|
Sandwich appearance of vertebral bodies, Pathologic fracture, Osteomyelitis, Pancytopenia, Spleno... |
OMIM:259700 |
Transcobalamin Ii Deficiency |
|
Decreased circulating IgG level, Diarrhea, Vomiting, Failure to thrive, Decreased circulating IgA... |
OMIM:275350 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... |
OMIM:610193 |
Good Syndrome |
|
Thymoma, Diarrhea, Aplasia/Hypoplasia of the thymus, Recurrent skin infections, Abnormal leukocyt... |
ORPHA:169105 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Steppage gait, Hypercholesterolemia, Ataxia |
ORPHA:94124 |
Agammaglobulinemia, X-Linked |
|
Recurrent otitis media, Lymph node hypoplasia, Prostatitis, Neutropenia, Epididymitis, Pyoderma, ... |
OMIM:300755 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis, Congenital hypothyroidism |
ORPHA:88643 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Lymphopenia, Skin rash, Thrombocytopenia, Ileal ulcer, Colitis, Hemolytic anemia, Anterior uveitis |
OMIM:616744 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Jejunoileal ulceration, Small bowel diverticula, Tachycardia, Fat malabsorption, Hypoproteinemia |
OMIM:221400 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Protein-losing enteropathy, Villous atrophy, Hyperlipidemia, Hypercholesterolemia |
OMIM:615863 |
Alg6-Cdg |
|
Hypoalbuminemia, Protein-losing enteropathy, Abnormality of the liver, Decreased LDL cholesterol ... |
ORPHA:79320 |
Simple Cryoglobulinemia |
|
Nephritis, Monoclonal immunoglobulin M proteinemia, Gastrointestinal hemorrhage, Paraproteinemia,... |
ORPHA:91139 |
Majeed Syndrome |
|
Inflammatory abnormality of the skin, Failure to thrive, Osteomyelitis, Malabsorption, Leukocytos... |
ORPHA:77297 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased circulating IgG level, Diarrhea, Failure to thrive, Hepatocellular necrosis, Hepatosple... |
OMIM:618278 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hypoalbuminemia, Increased mean corpuscular volume, Second degree atrioventricular block, Extrame... |
OMIM:617021 |
Hereditary Folate Malabsorption |
|
Cheilitis, Diarrhea, Gastroesophageal reflux, Failure to thrive, Pancytopenia, Nausea and vomitin... |
ORPHA:90045 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Pneumonia, Reduced natural killer cell count, Diarrhea, Failure to thrive, Decreased circulating ... |
OMIM:242860 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Decreased circulating IgG level, Failure to thrive, Recurrent aphthous stomatitis, Decreased circ... |
ORPHA:275 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... |
OMIM:619375 |
Wolcott-Rallison Syndrome |
|
Hypoalbuminemia, Neonatal insulin-dependent diabetes mellitus, Difficulty walking, Exocrine pancr... |
ORPHA:1667 |
Bronchiectasis With Or Without Elevated Sweat Chloride 2 |
|
Abnormality of exocrine pancreas physiology, Bronchiectasis, Recurrent bronchiolitis, Chronic bro... |
OMIM:613021 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Intestinal pseudo-obstruction, Malnutrition, Slender build, Malabsorption, Gastrointestinal dysmo... |
OMIM:613662 |
X-Linked Agammaglobulinemia |
|
Hepatitis, Osteomyelitis, Hypocalcemia, Abnormality of the lymphatic system, Abnormality of the t... |
ORPHA:47 |
Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... |
ORPHA:2133 |
Purine Nucleoside Phosphorylase Deficiency |
|
Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Impaired... |
OMIM:613179 |
Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy |
ORPHA:66661 |
Babesiosis |
|
Hepatic failure, Leukopenia, Nausea and vomiting, Splenomegaly, Thrombocytopenia, Anorexia, Hepat... |
ORPHA:108 |
Celiac Disease, Susceptibility To, 1 |
|
Type I diabetes mellitus, Depression, Rickets, Thrombocytosis, Hypocalcemia, Macrocytic anemia, I... |
OMIM:212750 |
Whim Syndrome 1 |
|
Decreased circulating IgG level, Decreased circulating antibody level, Bronchiectasis, Neutropenia |
OMIM:193670 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... |
ORPHA:766 |
Albers-Schönberg Osteopetrosis |
|
Mandibular osteomyelitis, Osteomyelitis, Hypocalcemia, Abnormal leukocyte morphology, Generalized... |
ORPHA:53 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Steppage gait, Hypercholesterolemia, Ataxia |
OMIM:607250 |
Reni Syndrome |
|
Hypoalbuminemia, Ataxia, Mental deterioration, Hypoglycemia, Lymphopenia, Hypertriglyceridemia |
OMIM:617575 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circulating gamma-aminobutyric acid concent... |
OMIM:619658 |
Aids Wasting Syndrome |
|
Malnutrition, Malabsorption, Cachexia, Weight loss, Anorexia |
ORPHA:90081 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hypoalbuminemia, Hypocholesterolemia, Villous atrophy, Splenomegaly, Hepatomegaly, Short neck, At... |
OMIM:608776 |
Adenylate Kinase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reduced erythrocyte adenylate kinase activity |
OMIM:612631 |
Cold Agglutinin Disease |
|
Diarrhea, Nausea and vomiting, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic anemia |
ORPHA:56425 |
Congenital Enterovirus Infection |
|
Hypoalbuminemia, Hypotension, Hepatitis, Cardiomyopathy, Cholestasis, Leukopenia, Leukocytosis, A... |
ORPHA:292 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Decreased proportion of memory B cells, Diarrhea, Hepatosplenomegaly, Pancytopenia, Abnormal circ... |
ORPHA:79124 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Protein-losing enteropathy, Pancreatic lymphangiectasis, Hepatosplenomegaly, Splenomegaly, Hypoca... |
ORPHA:1655 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Protein-losing enteropathy, Hematochezia, Gastrointestinal carcinoma, Xerostomia, Hypomagnesemia,... |
OMIM:175500 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
Tempi Syndrome |
|
Ascites, Increased circulating IgG level, Increased hematocrit, Polycythemia |
ORPHA:284227 |
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections |
|
Atopic dermatitis, Gastroesophageal reflux, Increased circulating IgE level, Eosinophilic infiltr... |
OMIM:620532 |
Immunodeficiency, Common Variable, 6 |
|
Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... |
OMIM:613496 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Decreased circulating IgG level, Reduced natural killer cell count, Recurrent pneumonia, Atopic d... |
OMIM:619752 |
Brucellosis |
|
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Weight loss, Glomerulonephri... |
ORPHA:1304 |
Immunodeficiency 61 |
|
Recurrent otitis media, Obesity, Decreased circulating IgG2 level, Recurrent sinusitis, Decreased... |
OMIM:300310 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... |
ORPHA:251380 |
Abetalipoproteinemia |
|
Broad-based gait, Hyperbilirubinemia, Acanthocytosis, Hepatic steatosis, Cirrhosis, Ataxia, Hepat... |
ORPHA:14 |
Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Diarrhea, Vomiting, Hepatitis, Lymphopenia, Leukopenia, Increased ci... |
ORPHA:319218 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Diarrhea, Gastroesophageal reflux, Vomiting, Nausea, Gastrointestinal dysmotility, Cirrhosis, Sma... |
ORPHA:298 |
Visceral Myopathy 2 |
|
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... |
OMIM:619350 |
Wiskott-Aldrich Syndrome 2 |
|
Eczematoid dermatitis, Decreased proportion of CD8-positive T cells, Defective T cell proliferati... |
OMIM:614493 |
Autoinflammatory Disease, Systemic, With Vasculitis |
|
Diarrhea, Cholestasis, Hepatosplenomegaly, Abnormal circulating IgG level, Hepatomegaly, Abdomina... |
OMIM:620376 |
Rhabdoid Tumor |
|
Irritability, Hypertension, Neoplasm of the liver, Lymphadenopathy, Thrombocytopenia, Internal he... |
ORPHA:69077 |
Alg1-Cdg |
|
Hypoalbuminemia, Protein-losing enteropathy, Limitation of joint mobility, Cardiomyopathy, Abnorm... |
ORPHA:79327 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Abnormal T cell sub... |
ORPHA:158048 |
Intrinsic Factor Deficiency |
|
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... |
OMIM:261000 |
Pyoderma Gangrenosum |
|
Inflammation of the large intestine, Rheumatoid arthritis, Increased circulating antibody level, ... |
ORPHA:48104 |
Pseudohypoparathyroidism Type 2 |
|
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Prolonged QT interval, Hypocalcemic seizures |
ORPHA:94090 |
Inflammatory Pseudotumor Of The Liver |
|
Vomiting, Biliary tract abnormality, Increased hepatitis B virus antibody level, Nausea, Neoplasm... |
ORPHA:90003 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No... |
OMIM:613470 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn... |
OMIM:615214 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hypoalbuminemia, Bone marrow hypocellularity, Congestive heart failure, Inability to walk, Hypert... |
OMIM:617303 |
Marburg Hemorrhagic Fever |
|
Neutrophilia in presence of infection, Lymphopenia, Anorexia, Tachycardia, Jaundice, Shock, Eleva... |
ORPHA:99826 |
Young Syndrome |
|
Bronchiectasis, Congenital pulmonary airway malformation, Recurrent sinopulmonary infections, Rec... |
OMIM:279000 |
Rosaï-Dorfman Disease |
|
Anemia, Dysgammaglobulinemia, Lymphadenopathy |
ORPHA:158014 |
Spastic Paraplegia And Evans Syndrome |
|
Autoimmune thrombocytopenia, Coombs-positive hemolytic anemia |
OMIM:601608 |
Isolated Agammaglobulinemia |
|
Pneumonia, Diarrhea, Failure to thrive, Abnormal lymphocyte morphology, Malabsorption, Otitis med... |
ORPHA:229717 |
Immunodeficiency 58 |
|
Allergic rhinitis, Recurrent pneumonia, Bronchiectasis, Cutaneous abscess, Failure to thrive, Ecz... |
OMIM:618131 |
Bronchiectasis With Or Without Elevated Sweat Chloride 1 |
|
Abnormality of exocrine pancreas physiology, Bronchiectasis, Chronic bronchitis |
OMIM:211400 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Decreased circulating IgG level, Panuveitis, Osteomyelitis, Hepatosplenomegaly, Panniculitis, Com... |
OMIM:301081 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased circulating IgG level, Crohn's disease, Agammaglobulinemia, Absent circulating B cells,... |
OMIM:619705 |
Heme Oxygenase 1 Deficiency |
|
Nephritis, Cervical lymphadenopathy, Hepatomegaly, Coombs-positive hemolytic anemia, Lymphadenopa... |
OMIM:614034 |
Lymphoproliferative Syndrome 2 |
|
Decreased lymphocyte proliferation in response to mitogen, Recurrent pneumonia, Aplastic anemia, ... |
OMIM:615122 |
Thymoma |
|
Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Neoplasm of the gastroint... |
ORPHA:99867 |
Glutamate-Cysteine Ligase Deficiency |
|
Jaundice, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis |
ORPHA:33574 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Failure to thrive, Lymphopenia, Splenomegaly, Skin rash, Increased circulating antibody level, My... |
OMIM:617591 |
Bronchiectasis With Or Without Elevated Sweat Chloride 3 |
|
Bronchiectasis, Chronic bronchitis |
OMIM:613071 |
Harderoporphyria |
|
Increased fecal harderoporphyrin, Vomiting, Splenomegaly, Reticulocytosis, Hepatomegaly, Prolonge... |
OMIM:618892 |
Thrombocytopenia 1 |
|
Decreased mean platelet volume, Eczematoid dermatitis, Increased circulating IgE level, Increased... |
OMIM:313900 |
Gaisböck Syndrome |
|
Increased red blood cell count, Peptic ulcer, Increased mean corpuscular hemoglobin concentration... |
ORPHA:90041 |
Liver Disease, Severe Congenital |
|
Portal inflammation, Dilatation of the ventricular cavity, Hyperbilirubinemia, Hepatic steatosis,... |
OMIM:619991 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... |
OMIM:620058 |
Primary Biliary Cholangitis |
|
Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Celiac disease, Steatorrhea, Asc... |
ORPHA:186 |
Immunodeficiency 81 |
|
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Decreased prop... |
OMIM:619374 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Pneumonia, Atopic dermatitis, Recurrent upper respiratory tract infections |
OMIM:618806 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Diarrhea, Recurrent aphthous stomatitis, Splenomegal... |
OMIM:150550 |
Glutathione Peroxidase Deficiency |
|
Compensated hemolytic anemia, Heinz bodies |
OMIM:614164 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Keratitis, Eczematoid dermatitis, Increased circulating IgE level, Recurrent otitis media, Eosino... |
OMIM:618523 |
Lactose Intolerance, Adult Type |
|
Diarrhea, Lactose intolerance, Abdominal pain, Decreased small intestinal mucosa lactase level, F... |
OMIM:223100 |
Pseudohypoparathyroidism, Type Ic |
|
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Short neck, Cognitive impairment, Osteoporosis |
OMIM:612462 |
Igg4-Related Submandibular Gland Disease |
|
Facial edema, Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Abnormality of ... |
ORPHA:449432 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... |
OMIM:613673 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Diarrhea 12, With Microvillus Atrophy |
|
Dependency on parenteral nutrition, Vomiting, Secretory diarrhea, Villous atrophy, Respiratory tr... |
OMIM:619445 |
Nephrotic Syndrome, Type 1 |
|
Hypoalbuminemia, Gastroesophageal reflux, Hyperlipidemia, Hypoproteinemia, Pyloric stenosis |
OMIM:256300 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Inflammation of the large intestine, Decreased specific anti-polysaccharide antibody level, Failu... |
OMIM:614576 |
Brooke-Spiegler Syndrome |
|
Abnormality of the submandibular glands, Abnormality of the sublingual glands, Salivary gland neo... |
ORPHA:79493 |
Beta-Thalassemia |
|
Cholelithiasis, Hepatitis, Microcytic anemia, Hypertrophic cardiomyopathy, Splenomegaly, Abnormal... |
ORPHA:848 |
Dehydrated Hereditary Stomatocytosis |
|
Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog... |
ORPHA:3202 |
Immunodeficiency 7 |
|
Diarrhea, Failure to thrive, Recurrent otitis media, Hypereosinophilia, Splenomegaly, Autoimmune ... |
OMIM:615387 |
Glut1 Deficiency Syndrome 2 |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:612126 |
Immunodeficiency 65, Susceptibility To Viral Infections |
|
Gingivitis, Stomatitis, Bronchiectasis, Recurrent gastroenteritis |
OMIM:618648 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypoalbuminemia, Hypermethioninemia, Cardiomyopathy, Increased circulating creatine kinase MM iso... |
OMIM:613752 |
Al Amyloidosis |
|
Xerostomia, Postural hypotension with compensatory tachycardia, Abnormal cardiac atrium morpholog... |
ORPHA:85443 |
Immunodeficiency 19 |
|
Abnormal B cell morphology, Abnormal natural killer cell morphology, Failure to thrive, Recurrent... |
OMIM:615617 |
Chylomicron Retention Disease |
|
Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Accumulation of lipid droplets in smal... |
OMIM:246700 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Failure to thrive, Decreased circulating IgA level, Recurrent skin infections, Decreased circulat... |
OMIM:617744 |
Autosomal Agammaglobulinemia |
|
Diarrhea, Bronchiectasis, Hepatitis, Failure to thrive, Osteomyelitis, Malabsorption, Skin rash, ... |
ORPHA:33110 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Perioral eczema, Diarrhea, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent sinusiti... |
OMIM:613960 |
Aicardi-Goutieres Syndrome 7 |
|
Diarrhea, Pancytopenia, Hepatic steatosis, Chilblains, Increased circulating antibody level, Weig... |
OMIM:615846 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Hypoalbuminemia, Decreased circulating iron concentration, Gastroesophageal reflux, Decreased cir... |
ORPHA:89842 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Increased circulating IgG level, Leukocytosis |
ORPHA:206594 |
Analbuminemia |
|
Hypoalbuminemia, Hypotension, Increased LDL cholesterol concentration, Elevated circulating trans... |
OMIM:616000 |
Diarrhea 13 |
|
Hypoalbuminemia, Hepatic steatosis, Recurrent hypoglycemia |
OMIM:620357 |
Pearson Syndrome |
|
Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Ataxia, Hepatomegaly, Hypoplastic... |
ORPHA:699 |
Osteopetrosis, Autosomal Recessive 5 |
|
Extramedullary hematopoiesis, Cranial hyperostosis, Hepatosplenomegaly, Pancytopenia, Leukocytosi... |
OMIM:259720 |
Pseudohypoparathyroidism, Type Ia |
|
Hyperphosphatemia, Hypocalcemic tetany, Short neck, Subcutaneous ossification, Cognitive impairme... |
OMIM:103580 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Rickets, Osteomalacia, Hypocalcemia, Tooth abscess, Hypophosphatemia, Iron deficiency anemia |
ORPHA:89937 |
Exercise-Induced Malignant Hyperthermia |
|
Hypotension, Abnormal pulse pressure, Hyperphosphatemia, Sinus tachycardia, Abnormal T-wave, Conf... |
ORPHA:466650 |
Papa Syndrome |
|
Crohn's disease, Increased inflammatory response, Increased circulating antibody level, Myositis,... |
ORPHA:69126 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Diarrhea, Decreased lymphocyte proliferation in response to an... |
OMIM:619313 |
Spherocytosis, Type 5 |
|
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... |
OMIM:612690 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Pneumonia, Atopic dermatitis, Increased circulating IgE level, Recurrent sinusitis, B lymphocytop... |
ORPHA:217390 |
Aicardi-Goutieres Syndrome 9 |
|
Hypoalbuminemia, Hepatic fibrosis, Acute pancreatitis, Hepatosplenomegaly, Pericardial effusion, ... |
OMIM:619487 |
Blue Diaper Syndrome |
|
Hypercalcemia, Increased proinsulin:insulin ratio, Hyperphosphatemia, Recurrent hypoglycemia |
ORPHA:94086 |
Amoebiasis Due To Entamoeba Histolytica |
|
Hypoalbuminemia, Congestive heart failure, Abnormal pericardium morphology, Leukocytosis, Intesti... |
ORPHA:67 |
Immunodeficiency 31C |
|
Protein-losing enteropathy, Diarrhea, Eczematoid dermatitis, Decreased lymphocyte proliferation i... |
OMIM:614162 |
Adult Idiopathic Neutropenia |
|
Lymphopenia, Recurrent aphthous stomatitis, Helicobacter pylori infection, Neutropenia, Monocytos... |
ORPHA:2688 |
Mevalonic Aciduria |
|
Diarrhea, Vomiting, Fluctuating splenomegaly, Failure to thrive, Failure to thrive in infancy, Mo... |
OMIM:610377 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... |
OMIM:314050 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Ataxia, Hypoalbuminemia, Osteopenia, Hepatic fibrosis, Cardiomyopathy, Hypocholesterolemia, Villo... |
OMIM:212065 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level |
OMIM:137050 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... |
OMIM:616689 |
Refractory Anemia With Excess Blasts |
|
Abnormal mean corpuscular volume, Bone marrow hypocellularity, Palpitations, Leukocytosis, Anemia... |
ORPHA:86839 |
Bacterial Toxic-Shock Syndrome |
|
Hypoalbuminemia, Hypotension, Septic arthritis, Hepatitis, Shock, Elevated circulating creatinine... |
ORPHA:36234 |
Hypobetalipoproteinemia, Familial, 1 |
|
Ataxia, Hypocholesterolemia, Acanthocytosis, Hypertriglyceridemia, Decreased LDL cholesterol conc... |
OMIM:615558 |
Variant Abeta2M Amyloidosis |
|
Gastrointestinal infarctions, Abnormal salivary gland morphology, Intestinal perforation |
ORPHA:314652 |
Gastroesophageal Reflux |
|
Barrett esophagus, Esophagitis, Gastroesophageal reflux, Esophageal neoplasm |
OMIM:109350 |
Mounier-Kühn Syndrome |
|
Pneumonia, Recurrent respiratory infections, Bronchitis, Recurrent bronchopulmonary infections |
ORPHA:3347 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate... |
OMIM:224120 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Decreased circulating antibody level, Leukocytosis, Splenomegaly |
OMIM:618042 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Ankle flexion contracture, Depression, Restlessness, Increased fecal coproporphyrin 3, Abnormal f... |
ORPHA:100924 |
Coproporphyria, Hereditary |
|
Diarrhea, Vomiting, Increased fecal coproporphyrin 3, Splenomegaly, Increased fecal coproporphyri... |
OMIM:121300 |
Cyclic Neutropenia |
|
Recurrent tonsillitis, Periodontitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, ... |
ORPHA:2686 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hepatosplenomegaly, Mitral regurgitation, Short neck, Atrial septal defect, Tachycardia, Inabilit... |
ORPHA:505248 |
Timothy Syndrome |
|
Atrioventricular block, Hypoglycemia, Tetralogy of Fallot, Hypocalcemia, Patent foramen ovale, Ve... |
OMIM:601005 |
Steinert Myotonic Dystrophy |
|
Mental deterioration, Intestinal pseudo-obstruction, Oral-pharyngeal dysphagia, Hyperinsulinemia,... |
ORPHA:273 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Irritability |
OMIM:146200 |
Shigellosis |
|
Microangiopathic hemolytic anemia, Cholestasis, Abscess, Anorexia, Abdominal pain, Intestinal per... |
ORPHA:810 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Atrioventricular block, Absent P wave, Elbow flexion contracture, Palpitations, Knee flexion cont... |
OMIM:310300 |
Cleft Velum |
|
Nasal regurgitation, Velopharyngeal insufficiency, Oral-pharyngeal dysphagia, Aspiration pneumoni... |
ORPHA:99772 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Vomiting, Diarrhea, Failure to thrive, Cachexia, Weight loss, Feeding difficulties |
OMIM:612075 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, T lymphocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Decreased circulatin... |
ORPHA:169079 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, Recurrent otitis media, B lymphocytopenia |
OMIM:616941 |
Hemorrhagic Fever-Renal Syndrome |
|
Hyperphosphatemia, Tachycardia, Hyperkalemia, Shock, Elevated circulating creatinine concentratio... |
ORPHA:340 |
Insulin-Resistance Syndrome Type B |
|
Pneumonia, Decreased circulating complement factor B concentration, Nephritis, Biliary cirrhosis,... |
ORPHA:2298 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Xerostomia, Abnormal salivary gland morphology, Increased circulating IgG4 level, Abnormality of ... |
ORPHA:79078 |
Oculoskeletodental Syndrome |
|
Protein-losing enteropathy, Elbow flexion contracture, Splenomegaly, Hypocalcemia, Hepatomegaly, ... |
OMIM:618440 |
Bone Marrow Failure Syndrome 4 |
|
Bone marrow hypocellularity, Eczematoid dermatitis, Leukopenia, Thrombocytopenia, Anemia, Decreas... |
OMIM:618116 |
Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Macronodular cirrhosis, Decreased circulating IgA level, Small for gestational age, Abnormal T ce... |
OMIM:215250 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Sclerotic vertebral body, Mental deterioration, Platyspondyly, Craniofacial osteosclerosis, Incre... |
OMIM:618476 |
Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
Cartilage-Hair Hypoplasia |
|
Biconvex vertebral bodies, Abnormal form of the vertebral bodies, Cardiomyopathy, Sacral dimple, ... |
ORPHA:175 |
Solitary Rectal Ulcer Syndrome |
|
Hematochezia, Tenesmus, Stercoral ulcer, Anal fissure, Chronic constipation, Decreased body weigh... |
ORPHA:209964 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia |
OMIM:205950 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia |
ORPHA:32 |
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To |
|
Reduced erythrocyte gamma-glutamyl cysteine synthetase activity, Hemolytic anemia, Reticulocytosis |
OMIM:230450 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Delayed epiphyseal ossification, Hyperphosphatemia, Hypocalcemia |
OMIM:618618 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Atopic dermatitis, Recurrent pneumonia, Cutaneous abscess, Eczematoid dermatitis, Chronic mucocut... |
OMIM:618282 |
Chilblain Lupus |
|
Discoid lupus rash, Inflammatory abnormality of the skin, Chronic myelomonocytic leukemia, Malar ... |
ORPHA:90280 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Failure to thrive, Hepatosplenomegaly, Reticulocytosis, Anorexia, Decreased mean corpuscular volu... |
OMIM:611590 |
Pediatric Systemic Lupus Erythematosus |
|
Discoid lupus rash, Nephritis, Diarrhea, Vomiting, Microangiopathic hemolytic anemia, Ascites, Ly... |
ORPHA:93552 |
Galactose Epimerase Deficiency |
|
Nausea and vomiting, Splenomegaly, Weight loss, Hepatomegaly, Jaundice, Feeding difficulties |
ORPHA:79238 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
OMIM:618883 |
Folate Malabsorption, Hereditary |
|
Diarrhea, Failure to thrive, Leukopenia, Folate-responsive megaloblastic anemia, Malabsorption, F... |
OMIM:229050 |
Insulin Autoimmune Syndrome |
|
Weight loss, Arthralgia/arthritis, Increased circulating antibody level |
ORPHA:411593 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Reduced na... |
OMIM:300291 |
Genetic Recurrent Myoglobinuria |
|
Hyperphosphatemia, Difficulty walking, Hypocalcemia, Arrhythmia, Hyperkalemia, Highly elevated cr... |
ORPHA:99845 |
Igg4-Related Thyroid Disease |
|
Graves disease, Euthyroid goiter, Goiter, Sialadenitis, Sclerosing cholangitis, Hashimoto thyroid... |
ORPHA:64744 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Intrahepatic cholestasis, Giant cell hepatitis, Rickets, Hypocholesterolemia, Splenomegaly, Hepat... |
OMIM:607765 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... |
ORPHA:75564 |
Prolidase Deficiency |
|
Recurrent pneumonia, Failure to thrive, Eczematoid dermatitis, Splenomegaly, Increased circulatin... |
OMIM:170100 |
Generalized Pustular Psoriasis |
|
Hypoalbuminemia, Congestive heart failure, Lymphopenia, Leukocytosis, Hypocalcemia, Hyponatremia,... |
ORPHA:247353 |
Congenital Toxoplasmosis |
|
Diarrhea, Ascites, Failure to thrive in infancy, Cardiomegaly, Hepatomegaly, Lymphadenopathy, Thr... |
ORPHA:858 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Hepatomegaly, Anemia, Abnormal bone structure |
ORPHA:46532 |
Hemolytic Anemia With Thermal Sensitivity Of Red Cells |
|
Congenital hemolytic anemia |
OMIM:235370 |
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain |
|
Compensated hemolytic anemia |
OMIM:142309 |
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane |
|
Nonspherocytic hemolytic anemia |
OMIM:206300 |
Pseudohypoparathyroidism Type 1A |
|
Depression, Hyperphosphatemia, Ectopic ossification, Hypocalcemic tetany, Confusion, Reduced bone... |
ORPHA:79443 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Increased circulating interleukin 8 concentration, Microcytic anemia, Recurrent otitis media, Chr... |
OMIM:256040 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Recurrent pneumonia, Vomiting, Secretory diarrhea, Failure to thrive, Increased circulating IgE l... |
OMIM:616069 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Coarse metaphyseal trabecularization, Abnormal form of the vertebral bodies, Osteomalacia, Recurr... |
ORPHA:93160 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent pneumonia, Failure to thrive, Rectal abscess, Panhypogammaglobulinemia, Recurrent otiti... |
OMIM:601495 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Atrophic gastritis, Recurrent pneumonia, Recurrent skin infections, Autoimmune hemolytic anemia, ... |
OMIM:616576 |
6-Phosphogluconolactonase Deficiency |
|
Hemolytic anemia |
OMIM:172150 |
Ciliary Dyskinesia, Primary, 33 |
|
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent bronchitis, Chronic rhinitis,... |
OMIM:616726 |
Sitosterolemia 1 |
|
Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb... |
OMIM:210250 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Aspiration pneumonia |
OMIM:619477 |
Pfapa Syndrome |
|
Malabsorption, Nausea and vomiting, Splenomegaly, Infectious encephalitis, Weight loss, Lymphaden... |
ORPHA:42642 |
Syndromic Diarrhea |
|
Hepatic fibrosis, Intractable diarrhea, Small for gestational age, Panhypogammaglobulinemia, Lymp... |
ORPHA:84064 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Neutropenia |
OMIM:266130 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Nausea and vomiting, Wei... |
ORPHA:3226 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Diarrhea, Brain abscess, Abnormal lymph node morphology, Abnormality of the lymphatic system, Wei... |
ORPHA:54251 |
Kenny-Caffey Syndrome, Type 2 |
|
Hyperphosphatemia, Hypocalcemia, Thickened cortex of long bones, Transient hypophosphatemia, Anem... |
OMIM:127000 |
Immunodeficiency 67 |
|
Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... |
OMIM:607676 |
Immunodeficiency 87 And Autoimmunity |
|
Cholestasis, Lymphopenia, Decreased CD4:CD8 ratio, Hepatic steatosis, Hepatomegaly, Jaundice, Atr... |
OMIM:619573 |
Kenny-Caffey Syndrome, Type 1 |
|
Hypomagnesemia, Hypocalcemia, Decreased skull ossification, Calvarial osteosclerosis, Anemia |
OMIM:244460 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Diarrhea, Uveitis, Malabsorption, Splenomegaly, Infectious encephali... |
ORPHA:3452 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Xq28 (MECP2) duplication |
|
Gastroesophageal reflux, Failure to thrive, Decreased circulating IgA level, Feeding difficulties... |
DECIPHER:45 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hypoalbuminemia, Protein-losing enteropathy, Hepatic fibrosis, Villous atrophy, Hepatomegaly, Cir... |
OMIM:602579 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Cholestasis, Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyp... |
ORPHA:247598 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hypotension, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Tachycardia, ... |
OMIM:145600 |
Pseudohypoparathyroidism Type 1C |
|
Depression, Hyperphosphatemia, Ectopic ossification, Hypocalcemic tetany, Confusion, Hypocalcemia... |
ORPHA:79444 |
Secondary Intestinal Lymphangiectasia |
|
Hypoalbuminemia, Increased stool alpha1-antitrypsin concentration, Intestinal bleeding, Right ven... |
ORPHA:90363 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione reductase activity |
OMIM:618660 |
Classic Hodgkin Lymphoma |
|
Bone marrow hypocellularity, Splenomegaly, Skin rash, Weight loss, Lymphadenopathy, Anorexia, Hep... |
ORPHA:391 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Spinal rigidity, Left anterior fascicular block, Dilated cardiomyopathy, Elbow flexion contractur... |
OMIM:181350 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level |
OMIM:601198 |
Sepsis In Premature Infants |
|
Diarrhea, Abdominal distention, Vomiting, Decreased liver function, Functional abnormality of the... |
ORPHA:90051 |
Galactosemia I |
|
Diarrhea, Vomiting, Failure to thrive, Decreased liver function, Reduced erythrocyte galactose-1-... |
OMIM:230400 |
Immunodeficiency 47 |
|
Accessory spleen, Normocytic anemia, Hepatic bridging fibrosis, Hepatic fibrosis, Decreased circu... |
OMIM:300972 |
Juvenile Polyposis Syndrome |
|
Hypoalbuminemia, Hematochezia, Intussusception, Duodenal adenocarcinoma, Multiple gastric polyps,... |
OMIM:174900 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Hypoalbuminemia, Mental deterioration, Gait ataxia, Thrombocytopenia, Unsteady gait, Dysphagia, N... |
OMIM:254900 |
Diarrhea 6 |
|
Abdominal pain, Chronic diarrhea, Meteorism, Crohn's disease |
OMIM:614616 |
Overhydrated Hereditary Stomatocytosis |
|
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... |
ORPHA:3203 |
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:231900 |
Indolent Systemic Mastocytosis |
|
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Skin rash, Lymphadenopathy,... |
ORPHA:98848 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Recurrent pneumonia, Vomiting, Eczematoid dermatitis, Hypersegmentation of neutrophil nuclei, Lym... |
OMIM:617780 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Cholestasis, Pancytopenia, Hepatic steatosis, Cirrhosis, Unconjugated hyperbilirubinemia, High pa... |
OMIM:613658 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hypoalbuminemia, Dilated cardiomyopathy, Congestive heart failure, Hepatosplenomegaly, Abnormal c... |
ORPHA:367 |
Nephrotic Syndrome, Type 2 |
|
Hypoalbuminemia, Hyperlipidemia |
OMIM:600995 |
Hypophosphatasia |
|
Irritability, Anemia, Craniosynostosis, Hypercalcemia, Recurrent fractures |
ORPHA:436 |
Ciliary Dyskinesia, Primary, 9 |
|
Pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Chronic sinusitis, Chro... |
OMIM:612444 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Allergic rhinitis, Eosinophilic microabscess formation in the esophagus, Esophagitis, Lactose int... |
ORPHA:411696 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Diarrhea, Chronic lymphatic leukemia, Acute myeloid leukemia, Weight loss, Neutrophilia, Hepatome... |
ORPHA:98849 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Type I diabetes mellitus, Hypotension, Hepatitis, Hypoglycemia, Macrocytic ane... |
ORPHA:199299 |
Reticuloendotheliosis, X-Linked |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy |
OMIM:312500 |
Vitamin D-Dependent Rickets, Type 3 |
|
Osteopenia, Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Weight loss, Lymphadenopathy, Anorexia, Hepatomegaly |
ORPHA:86893 |
Shwachman-Diamond Syndrome |
|
Aplastic anemia, Pancytopenia, Increased serum bile acid concentration, Impaired neutrophil chemo... |
ORPHA:811 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Eczematoid dermatitis, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Decreased circulati... |
OMIM:615952 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Bone marrow hypocellularity, Reduced natural killer cell count, Inflammation of the large intesti... |
OMIM:620133 |
Trehalase Deficiency |
|
Abdominal pain, Diarrhea |
OMIM:612119 |
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2 |
|
Enterocolitis |
OMIM:620425 |
Alpha-Thalassemia |
|
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... |
ORPHA:846 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia |
ORPHA:2643 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemi... |
OMIM:603552 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed epiphyseal ossification, Rickets, Difficulty walking, Hypocalcemia, Sparse bone trabecula... |
OMIM:264700 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Cholelithiasis, Splenomegaly, Reticulocytosis, Cholecystitis, Nonspherocytic h... |
OMIM:235700 |
Muscular Hypertonia, Lethal |
|
Pneumonia |
OMIM:254120 |
Juvenile Polyposis Syndrome |
|
Stomach cancer, Juvenile gastrointestinal polyposis, Small intestinal polyposis, Juvenile colonic... |
ORPHA:2929 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Periportal fibrosis, Micronodular cirrh... |
OMIM:251880 |
Radiation Proctitis |
|
Hematochezia, Arteritis, Diarrhea, Tenesmus, Abnormal rectum morphology, Intestinal obstruction, ... |
ORPHA:70475 |
Autoinflammatory-Pancytopenia Syndrome |
|
Cholestatic liver disease, Hepatic fibrosis, Granuloma, Hemophagocytosis, Failure to thrive, Hepa... |
OMIM:619858 |
Alg12-Cdg |
|
Hypoalbuminemia, Gastroesophageal reflux, Recurrent hypoglycemia, Intestinal malrotation, Hypocho... |
ORPHA:79324 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Aggressive behavior, Flexion contracture, Jaundice, Hypoproteinemia |
OMIM:608093 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Hemochromatosis, Type 4 |
|
Cardiomyopathy, Increased circulating ferritin concentration, Glucose intolerance, Hepatic steato... |
OMIM:606069 |
Beta-Thalassemia Intermedia |
|
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, High-output conges... |
ORPHA:231222 |
2P21 Microdeletion Syndrome |
|
Hypocalcemia, Hypoglycemia |
ORPHA:163693 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Bifid uvula, Patchy osteosclerosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:241410 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... |
OMIM:300908 |
Neonatal Lupus Erythematosus |
|
Hepatic failure, Aplastic anemia, Pancytopenia, Abnormality of the liver, Malar rash, Splenomegal... |
ORPHA:398124 |
Hypophosphatasia, Infantile |
|
Platyspondyly, Unossified vertebral bodies, Elevated plasma pyrophosphate, Increased susceptibili... |
OMIM:241500 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Diarrhea, Vomiting, Microangiopathic hemolytic anemia, Acute colitis, Leukocytosis, Reticulocytos... |
ORPHA:90038 |
Ciliary Dyskinesia, Primary, 21 |
|
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Chronic sinusitis, Bronchiectasis |
OMIM:615294 |
Mpi-Cdg |
|
Hypoalbuminemia, Protein-losing enteropathy, Gastrointestinal hemorrhage, Hepatic fibrosis, Porta... |
ORPHA:79319 |
Immunoneurologic Disorder, X-Linked |
|
Small for gestational age, Decreased circulating IgG2 level |
OMIM:300076 |
Secondary Short Bowel Syndrome |
|
Diarrhea, Central hypothyroidism, Volvulus, Vomiting, Malnutrition, Villous atrophy, Abnormal sma... |
ORPHA:95427 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Spinal rigidity, Atrioventricular block, Dilated cardiomyopathy, Kyphosis, Tip-toe gait, Elbow fl... |
ORPHA:98855 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular hypertrophy, Hypotension, Atrioventricular block, Hypoglycemia, Cardiomyopathy, Hyper... |
OMIM:212138 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Decreased mean platelet volume, Hematochezia, Inflammation of the large intestine, Blepharitis, R... |
OMIM:617718 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:300861 |
Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia, Giant hypertrophic gastritis |
OMIM:137280 |
Glycoprotein Storage Disease |
|
Gout, Splenomegaly |
OMIM:232900 |
Trichohepatoenteric Syndrome 1 |
|
Cholestasis, Ventricular septal defect, Cirrhosis, Cognitive impairment, Hepatomegaly, Jaundice, ... |
OMIM:222470 |
Netherton Syndrome |
|
Allergic rhinitis, Decreased circulating IgG level, Failure to thrive, Eczematoid dermatitis, Inc... |
OMIM:256500 |
Tracheobronchomegaly |
|
Recurrent bronchopulmonary infections, Bronchiectasis |
OMIM:275300 |
Sanjad-Sakati Syndrome |
|
Patchy osteosclerosis, Hyperphosphatemia, Hypocalcemia, Intestinal obstruction, Spinal canal sten... |
ORPHA:2323 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Exocrine pancreatic insufficiency, Abnormal immunoglobulin level, Feeding difficulties in infancy... |
OMIM:618752 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Increased hematocrit, Leukocytosis, Splenomegaly, Increased red bloo... |
OMIM:263300 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Blepharitis, Failure to thrive, Bloody diarrhea, Increased circulating IgE level, Villous atrophy... |
OMIM:614328 |
Junctional Epidermolysis Bullosa Inversa |
|
Carious teeth, Enamel hypoplasia, Gastrointestinal inflammation, Oral mucosal blisters |
ORPHA:79405 |
Thrombotic Thrombocytopenic Purpura |
|
Diarrhea, Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Abdominal pain |
ORPHA:54057 |
Ciliary Dyskinesia, Primary, 42 |
|
Pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis |
OMIM:618695 |
Sickle Cell Disease |
|
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg... |
OMIM:603903 |
Potocki-Lupski Syndrome |
|
Gastroesophageal reflux, Oral-pharyngeal dysphagia, Hypocholesterolemia, Patent foramen ovale, Hy... |
OMIM:610883 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypoalbuminemia, Gait imbalance, Elevated circulating creatine kinase concentration, Hypercholest... |
ORPHA:64753 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased proportion of memory B cells, Atopic dermatitis, Decreased specific anti-polysaccharide... |
ORPHA:70593 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate... |
OMIM:153670 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Delayed epiphyseal ossification, Rickets, Difficulty walking, Hypocalcemia, Sparse bone trabecula... |
OMIM:600081 |
Progressive Familial Heart Block, Type Ia |
|
Left anterior fascicular block, Left posterior fascicular block, Right bundle branch block, Synco... |
OMIM:113900 |
Trichohepatoenteric Syndrome 2 |
|
Diarrhea, Small for gestational age, Failure to thrive, Villous atrophy, Cirrhosis, Chronic hepat... |
OMIM:614602 |
Juvenile Polyposis Of Infancy |
|
High, narrow palate, Protein-losing enteropathy, Intestinal bleeding, Gastrointestinal hemorrhage... |
ORPHA:79076 |
Sézary Syndrome |
|
Abnormal lymphocyte morphology, Splenomegaly, Abnormal immunoglobulin level, Erythroderma, Lympha... |
ORPHA:3162 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
Enterokinase Deficiency |
|
Hypoproteinemia |
OMIM:226200 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level, Late onset atopic dermatitis |
OMIM:221700 |
Atrial Septal Defect, Ostium Primum Type |
|
Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ... |
ORPHA:99106 |
Intestinal Dysmotility Syndrome |
|
Decreased intestinal transit time, Diarrhea, Failure to thrive, Feeding difficulties, Weight loss... |
OMIM:620045 |
Avian Influenza |
|
Hypoalbuminemia, Hepatitis, Congestive heart failure, Lymphopenia, Leukopenia, Elevated circulati... |
ORPHA:454836 |
Hemochromatosis, Type 3 |
|
Increased circulating iron concentration, Cardiomyopathy, Increased circulating ferritin concentr... |
OMIM:604250 |
Methylcobalamin Deficiency Type Cble |
|
Increased mean corpuscular volume, Pancytopenia, Abnormality of the liver, Macrocytic anemia, Hyp... |
ORPHA:2169 |
Wolman Disease |
|
Vomiting, Failure to thrive, Acute hepatic failure, Splenomegaly, Abdominal distention, Hepatomegaly |
OMIM:620151 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Cholestatic liver disease, Inflammation of the large intestine, Granuloma, Cholestasis, Interface... |
ORPHA:562639 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Short neck, Spinal rigidity, Tip-toe gait, Hypertrophic ... |
ORPHA:98863 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Hyperphosphatemia, Kyphosis, Increased bone mineral density, Hyperuricemia, Hydroxypr... |
OMIM:239000 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal mesentery morphology, Abnormality of the spleen, Cachexia, Tracheoesophageal fistula, In... |
ORPHA:93941 |
Lysosomal Acid Lipase Deficiency |
|
Diarrhea, Hepatosplenomegaly, Hypersplenism, Nausea and vomiting, Fatal liver failure in infancy,... |
ORPHA:275761 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Hyperphosphatemia, Hypocalcemic tetany, Cortical thickening of long bone diaphyses, Decreased sku... |
ORPHA:93325 |
Galloway-Mowat Syndrome 6 |
|
Hypoalbuminemia, High palate, Paroxysmal bursts of laughter, Motor stereotypy |
OMIM:618347 |
Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Spinal rigidity, Tip-toe gait, Hypertrophic cardiomyopat... |
ORPHA:261 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypoalbuminemia, Hypercholesterolemia, Cognitive impairment, Ataxia, Elevated circulating alpha-f... |
OMIM:616267 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Spinal rigidity, Tip-toe gait, Hypertrophic cardiomyopat... |
ORPHA:98853 |
Wilson Disease |
|
Hypouricemia, Osteomalacia, Hyperbilirubinemia, Hepatic steatosis, Cirrhosis, Hepatomegaly, Jaund... |
OMIM:277900 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Micronodular cirrhosis, Decreased liver function, Ascites, Hepatic steatosis, Decreased proportio... |
OMIM:301045 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Failure to thrive in infancy, Skin rash, Splenomegaly |
OMIM:619175 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Gastroesophageal reflux, Abnormal large intestine morphology, Poor s... |
ORPHA:2198 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Gastroesophageal reflux, Hepatitis, Failure to thrive in infancy, Decreased circulating IgA level... |
OMIM:613385 |
Chylomicron Retention Disease |
|
Hypocholesterolemia, Acanthocytosis, Hepatic steatosis, Steatorrhea, Fat malabsorption, Increased... |
ORPHA:71 |
Felty Syndrome |
|
Bone marrow hypocellularity, Recurrent pneumonia, Abnormal lymphocyte morphology, Episcleritis, S... |
ORPHA:47612 |
Congenital Myopathy 24 |
|
Cardiomyopathy, Abnormal circulating creatine kinase concentration, First degree atrioventricular... |
OMIM:617336 |
Postinfectious Vasculitis |
|
Pneumonia, Bacterial endocarditis, Abnormality of humoral immunity, Inflammatory abnormality of t... |
ORPHA:48435 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:2239 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... |
OMIM:603902 |
Sarcoidosis, Susceptibility To, 1 |
|
Inflammation of the large intestine, Enlarged lacrimal glands, Emphysema, Anorexia, Pleural effus... |
OMIM:181000 |
Cholera |
|
Hypovolemic shock, Hypotension, Hypoglycemia, Hypocalcemia, Irritability, Hypokalemia, Hyponatrem... |
ORPHA:173 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia |
OMIM:614652 |
Ciliary Dyskinesia, Primary, 44 |
|
Bronchiectasis, Otitis media, Recurrent sinusitis |
OMIM:618781 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia, Hypertension, Myocardial infarction |
ORPHA:54370 |
Mitochondrial Trifunctional Protein Deficiency |
|
Tip-toe gait, Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Cholestasis, Hyp... |
ORPHA:746 |
Colchicine Poisoning |
|
Hypotension, Cardiogenic shock, Hypomagnesemia, Congestive heart failure, Leukocytosis, Hypocalce... |
ORPHA:31824 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, S... |
OMIM:266200 |
Igg4-Related Kidney Disease |
|
Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Increased circulating IgE level, ... |
ORPHA:449395 |
Trimethylaminuria |
|
Anemia, Recurrent pneumonia, Splenomegaly, Neutropenia |
OMIM:602079 |
Ciliary Dyskinesia, Primary, 41 |
|
Recurrent otitis media, Bronchiectasis, Recurrent sinusitis |
OMIM:618449 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly, Abdominal ... |
OMIM:618852 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Gastroesophageal reflux, Xerostomia, Leukopenia, Hemolytic anemia, S... |
ORPHA:809 |
Cholesteryl Ester Storage Disease |
|
Hepatic bridging fibrosis, Diarrhea, Acute hepatic failure, Hepatosplenomegaly, Hypersplenism, He... |
OMIM:278000 |
Immunodeficiency 8 With Lymphoproliferation |
|
Lymphopenia, Attention deficit hyperactivity disorder, Gastroesophageal reflux |
OMIM:615401 |
Autosomal Dominant Hypocalcemia |
|
Hypotension, Depression, Hyperphosphatemia, Hypomagnesemia, Congestive heart failure, Hypocalcemi... |
ORPHA:428 |
Selective Igm Deficiency |
|
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-positive T ce... |
ORPHA:331235 |
Rift Valley Fever |
|
Melena, Hepatitis, Skin rash, Infectious encephalitis, Jaundice, Hematemesis, Thrombocytopenia, A... |
ORPHA:319251 |
Dyskeratosis Congenita, Digenic |
|
Decreased circulating IgG level, Gastroesophageal reflux, Failure to thrive, Oral leukoplakia, De... |
OMIM:620040 |
Peroxisome Biogenesis Disorder 3B |
|
Elevated circulating phytanic acid concentration, Hypocholesterolemia, Hepatomegaly, Ataxia, Stea... |
OMIM:266510 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Gastroesophageal reflux, Ventricular escape rhythm, Patent foramen ovale, Arrhythmia, Bradycardia... |
ORPHA:542306 |
Ige Responsiveness, Atopic |
|
Increased circulating IgE level, Allergic rhinitis, Eczematoid dermatitis |
OMIM:147050 |
Sickle Cell Anemia |
|
Hypochromic anemia, Persistence of hemoglobin F, Microcytic anemia, Abnormality of the spleen, Ja... |
ORPHA:232 |
Hereditary Spherocytosis |
|
Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration... |
ORPHA:822 |
Retinal Dystrophy And Microvillus Inclusion Disease |
|
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Chron... |
OMIM:619446 |
Microlissencephaly |
|
Pneumonia |
ORPHA:1083 |
Congenital Analbuminemia |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Low pulse pressure, Incre... |
ORPHA:86816 |
Diffuse Neonatal Hemangiomatosis |
|
Anemia, Hepatomegaly, Hypercalcemia, Thrombocytopenia |
ORPHA:2123 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia |
ORPHA:517 |
Immunodeficiency 56 |
|
Hepatic failure, Recurrent pneumonia, Failure to thrive, Panhypogammaglobulinemia, Recurrent otit... |
OMIM:615207 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Atopic dermatitis, Increased circulating IgE level, Hypereosinophilia, Leukocytosis, Abnormality ... |
ORPHA:2902 |
Oxoglutaric Aciduria |
|
Abnormal salivary gland morphology |
ORPHA:31 |
Ciliary Dyskinesia, Primary, 46 |
|
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis |
OMIM:619436 |
Acute Monoblastic/Monocytic Leukemia |
|
Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, Lymphocytos... |
ORPHA:514 |
Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Defective B cell differentiation, Failure to thrive, Lymphopenia... |
OMIM:208900 |
Systemic Lupus Erythematosus |
|
Nephritis, Leukopenia, Malar rash, Lupus nephritis, Thrombocytopenia, Arthritis, Hemolytic anemia... |
OMIM:152700 |
Erythroleukemia, Familial, Susceptibility To |
|
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... |
OMIM:133180 |
Tropical Endomyocardial Fibrosis |
|
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... |
ORPHA:75565 |
Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Acute leukemia, Inflammation of the large intestine, Microcytic a... |
ORPHA:906 |
Angioedema, Hereditary, 8 |
|
Abdominal pain, Diarrhea, Episodic vomiting |
OMIM:619367 |
Bronchiolitis Obliterans |
|
Pneumonia, Bronchiolitis obliterans, Bronchiectasis, Respiratory tract infection |
ORPHA:1303 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hypertensive crisis, Septic arthritis, Brain abscess, Gastrointestinal infarctions, Hemolytic ane... |
ORPHA:544482 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Pneumonia, Abnormal T cell count, Diarrhea, Panhypogammaglobulinemia, Recurrent otitis media, Pyo... |
OMIM:307200 |
Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
Spherocytosis, Type 2 |
|
Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia |
OMIM:616649 |
Refractory Anemia |
|
Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi... |
ORPHA:98826 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hemolytic anemia, Normochromic anemia |
OMIM:245900 |
Primary Sclerosing Cholangitis |
|
Cholestasis, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrhosis, Hepatomegaly, Celi... |
ORPHA:171 |
Microsporidiosis |
|
Lymphadenitis, Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Ke... |
ORPHA:2552 |
Ciliary Dyskinesia, Primary, 39 |
|
Recurrent otitis media, Recurrent lower respiratory tract infections, Bronchiectasis |
OMIM:618254 |
X-Linked Centronuclear Myopathy |
|
Pneumonia, Recurrent respiratory infections, Feeding difficulties in infancy, Polyhydramnios, Hig... |
ORPHA:596 |
Cog7-Cdg |
|
Diarrhea, Failure to thrive, Hepatosplenomegaly, Hepatomegaly, Jaundice, Small for gestational ag... |
ORPHA:79333 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Osteopenia, Gastroesophageal reflux, Inability to walk, Splenomegaly, Hypocalcemia, Hypokalemia, ... |
OMIM:617913 |
Mulibrey Nanism |
|
Hepatomegaly, Cachexia |
ORPHA:2576 |
Ciliary Dyskinesia, Primary, 23 |
|
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic rhi... |
OMIM:615451 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Cardiomyopathy, Anorexia, Splenomegaly, Hyperammonemia, Hepatomegaly, Lethargy, Pancreatitis, Neu... |
ORPHA:79312 |
Dominant Beta-Thalassemia |
|
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypersplenism, H... |
ORPHA:231226 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Diarrhea, Failure to thrive, Impaired T cell function, Splenomegaly, Hepatomegaly, Poor appetite |
OMIM:201100 |
Immunodeficiency 35 |
|
Increased circulating IgE level |
OMIM:611521 |
Spherocytosis, Type 4 |
|
Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia |
OMIM:612653 |
Ring Chromosome 10 Syndrome |
|
Aganglionic megacolon, Short neck, Hypocalcemia |
ORPHA:1438 |
Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Increased circulating IgE level |
OMIM:144200 |
Cryohydrocytosis |
|
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis |
OMIM:185020 |
Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hypoalbuminemia, Protein-losing enteropathy, Hematochezia, Abnormal circulating protein concentra... |
ORPHA:103910 |
Griscelli Syndrome |
|
Bone marrow hypocellularity, Hepatitis, Ascites, Leukopenia, Splenomegaly, Lymphadenopathy, Throm... |
ORPHA:381 |
Hypotonia-Cystinuria Syndrome |
|
Polyphagia, Neonatal hypoglycemia, Hypocalcemia |
OMIM:606407 |
Hereditary Elliptocytosis |
|
Cholelithiasis, Stomatocytosis, Abnormal erythrocyte morphology, Congenital hemolytic anemia, Ret... |
ORPHA:288 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Esophagitis, Eosinophilic, 2 |
|
Vomiting, Esophagitis, Dysphagia |
OMIM:613412 |
Esophagitis, Eosinophilic, 1 |
|
Vomiting, Esophagitis, Dysphagia |
OMIM:610247 |
Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hypoglycemia, Palpitations, R... |
ORPHA:324575 |
Double Outlet Right Ventricle |
|
Hypoplastic left heart, Aplasia/Hypoplasia of the thymus, Intestinal malrotation, Tetralogy of Fa... |
ORPHA:3426 |
Gracile Bone Dysplasia |
|
Ankyloglossia, Hypocalcemia, Decreased skull ossification, Asplenia, Hypoplastic spleen |
OMIM:602361 |
Thrombocythemia 1 |
|
Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce... |
OMIM:187950 |
Immunodeficiency, Common Variable, 10 |
|
Decreased circulating IgG level, Recurrent pneumonia, Frequent Giardia lamblia infestation, Recur... |
OMIM:615577 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Early satiety, Colonic diverticula, Diarrhea, Vomiting, Intestinal pseudo-obstruction, Malnutriti... |
OMIM:603041 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke... |
OMIM:619041 |
Alopecia Totalis |
|
Inflammation of the large intestine |
ORPHA:700 |
Brugada Syndrome 2 |
|
Right bundle branch block, Syncope, First degree atrioventricular block, Ventricular fibrillation... |
OMIM:611777 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypoalbuminemia, Hypermethioninemia, Cardiomyopathy, Abnormal circulating homocysteine concentrat... |
ORPHA:88618 |
Cholesteryl Ester Storage Disease |
|
Hepatic failure, Diarrhea, Nausea and vomiting, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice, ... |
ORPHA:75234 |
Spherocytosis, Type 1 |
|
Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia |
OMIM:182900 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Atrioventricular block, Dilated cardiomyopathy, Scoliosis, Congestive heart failure, Elevated cir... |
OMIM:611705 |
Orotic Aciduria |
|
Folate-unresponsive megaloblastic anemia, Failure to thrive, Impaired T cell function, Anisocytos... |
OMIM:258900 |
Yao Syndrome |
|
Uveitis, Inflammatory abnormality of the skin, Xerostomia, Diarrhea, Skin rash, Oral ulcer, Kerat... |
OMIM:617321 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Hypoalbuminemia, Protein-losing enteropathy, Joint contracture of the hand, Coronal craniosynosto... |
OMIM:235510 |
Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
Ciliary Dyskinesia, Primary, 27 |
|
Recurrent respiratory infections, Recurrent otitis media, Chronic sinusitis, Recurrent sinusitis,... |
OMIM:615504 |
Omenn Syndrome |
|
Pneumonia, Failure to thrive, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatom... |
ORPHA:39041 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Chronic Bilirubin Encephalopathy |
|
Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice, Hemolytic anemia, Hype... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice, Hemolytic anemia, Hype... |
ORPHA:529799 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Abdominal pain, Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Bone Marrow Failure Syndrome 6 |
|
Bone marrow hypocellularity, Osteopenia, Increased mean corpuscular volume, Persistence of hemogl... |
OMIM:618849 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Vomiting, Polyhydramnios, Abdominal pain, High palate, Necrotizing enterocolitis, Feeding difficu... |
OMIM:616809 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Recurrent respiratory infections, Bronchiectasis, Chronic otitis media, Recurrent sinusitis |
OMIM:300991 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Anemia, Hypercalcemia, Bone cyst |
ORPHA:2668 |
Rabies |
|
Diarrhea, Nausea and vomiting, Anorexia |
ORPHA:770 |
Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia |
OMIM:617585 |
Cystic Echinococcosis |
|
Cholestatic liver disease, Peritoneal abscess, Splenic cyst, Abscess, Increased circulating antib... |
ORPHA:400 |
Bone Marrow Failure Syndrome 2 |
|
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia |
OMIM:615715 |
Beta-Thalassemia Major |
|
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypersplenism, H... |
ORPHA:231214 |
Congenital Sucrase-Isomaltase Deficiency |
|
Vomiting, Diarrhea, Abdominal colic, Gastroesophageal reflux, Failure to thrive, Nausea, Constipa... |
ORPHA:35122 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Melena, Increased circulating iron concentration, Increased mean corpuscular volume, Increased to... |
ORPHA:98870 |
Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Dilated cardiomyopathy, Ventricular septal defect, Hypercholesterolemia, High pa... |
OMIM:616730 |
Gaucher Disease Type 1 |
|
Splenic infarction, Cholelithiasis, Hepatic failure, Ascites, Hypersplenism, Hepatosplenomegaly, ... |
ORPHA:77259 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Atopic dermatitis, Failure to thrive, Hepatosplenomegaly, Hepatic cysts, Colonic eosinophilia, Eo... |
OMIM:618999 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hypocalcemia, Decreased skull ossification, Calvarial osteosclerosis, Cortic... |
ORPHA:93324 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Monoclonal immunoglobulin M proteinemia, Diarrhea, Gastrointestinal hemorrhage... |
ORPHA:33226 |
Alexander Disease Type I |
|
Cachexia, Vomiting, Dysphagia, Failure to thrive |
ORPHA:363717 |
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Aspiration pneumonia |
OMIM:609528 |
Adult-Onset Still Disease |
|
Bone marrow hypocellularity, Hepatitis, Leukocytosis, Splenomegaly, Skin rash, Interstitial pneum... |
ORPHA:829 |
Kawasaki Disease |
|
Hypoalbuminemia, Vasculitis, Strawberry tongue, Hepatitis, Double outlet right ventricle with sub... |
ORPHA:2331 |
Osteopetrosis, Autosomal Recessive 7 |
|
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level, Splenomega... |
OMIM:612301 |
Achalasia, Familial Esophageal |
|
Rheumatoid arthritis, Xerostomia, Achalasia, Keratoconjunctivitis sicca |
OMIM:200400 |
Q Fever |
|
Hepatosplenomegaly, Increased circulating antibody level, Weight loss, Anorexia, Hepatomegaly, En... |
ORPHA:781 |
O'Sullivan-Mcleod Syndrome |
|
Eosinophilia, Increased circulating antibody level |
ORPHA:99965 |
Tracheobronchopathia Osteochondroplastica |
|
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Esophagitis, Recurrent respiratory infec... |
ORPHA:3348 |
Idiopathic Hypereosinophilic Syndrome |
|
Inflammatory abnormality of the skin, Hepatosplenomegaly, Chronic hepatitis, Feeding difficulties... |
ORPHA:3260 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hyperphosphatemia, Spinal canal stenosis, Calvarial hyperostosis, Epiphyseal stippling, Narrow ve... |
OMIM:101800 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Vomiting, Failure to thrive, Hepatic steatosis, Splenomegaly, Hepatomegaly |
OMIM:614480 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Reduced natural killer cell count, Hemophagocytosis, Increased circulating ferritin concentration... |
ORPHA:158057 |
Igg4-Related Pachymeningitis |
|
Nephritis, Lymphadenitis, Parotitis, Increased circulating IgG4 level, Reduced circulating comple... |
ORPHA:449427 |
Bloom Syndrome |
|
Neoplasm of the colon, Stomach cancer, Abscess, Abnormal proportion of CD8-positive T cells, Acut... |
ORPHA:125 |
Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Abdominal pain, Diarrhea, Hemolytic anemia |
OMIM:615399 |
Hyperbilirubinemia, Shunt, Primary |
|
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... |
OMIM:237800 |
Pneumocystosis |
|
Interstitial pneumonitis, Increased circulating antibody level, Weight loss, Acute infectious pne... |
ORPHA:723 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Rickets, Osteomalacia, Hepatosplenomegaly, Hypophosphatemic rickets, Hypophosphatemia, Osteoarthr... |
OMIM:307800 |
Legionnaires Disease |
|
Bone marrow hypocellularity, Diarrhea, Hepatitis, Lymphopenia, Nausea and vomiting, Splenomegaly,... |
ORPHA:549 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Diarrhea, Vomiting, Malnutrition, Abnormality of the spleen, Abnorma... |
ORPHA:79456 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Gastroesophageal reflux, Malnutrition, Polyhydramnios, Recurrent aspiration pneumonia, Intermitte... |
OMIM:619971 |
Atrial Fibrillation, Familial, 7 |
|
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... |
OMIM:612240 |
Acquired Partial Lipodystrophy |
|
Decreased circulating complement C3 concentration, Hepatic steatosis, Lymphocytosis |
ORPHA:79087 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hepatomegaly, P... |
OMIM:185000 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Splenomegaly, Inc... |
OMIM:194380 |
Alpha-1-Antitrypsin Deficiency |
|
Chronic bronchitis, Gastric varix, Panacinar emphysema, Bronchiectasis, Hepatocellular carcinoma |
OMIM:613490 |
Oculoskeletodental Syndrome |
|
Hypercalcemia, Hypocalcemia, Hyperlordosis, Scoliosis, Thoracic kyphosis |
ORPHA:557003 |
Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia |
OMIM:618349 |
Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
Complement Factor B Deficiency |
|
Pneumonia, Peritonitis |
OMIM:615561 |
Castleman Disease |
|
Abnormality of the gastrointestinal tract, Nausea and vomiting, Follicular hyperplasia, Intestina... |
ORPHA:160 |
Erythrocytosis, Familial, 8 |
|
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... |
OMIM:222800 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... |
OMIM:108900 |
Oncogenic Osteomalacia |
|
Abnormal vertebral morphology, Pathologic fracture, Hypocalcemia, Increased susceptibility to fra... |
ORPHA:352540 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Esophageal carcinoma, Diarrhea, Inflammatory abnormality of the skin, Hepatitis, Eczematoid derma... |
ORPHA:391487 |
Fibronectin Glomerulopathy |
|
Hypoalbuminemia, Hypertension, Cerebral hemorrhage |
ORPHA:84090 |
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis |
OMIM:620032 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Recurrent aphthous stomatitis, Leukocytosis, Splenomegaly, Skin rash, Lymphadenopathy, Erythema n... |
OMIM:611762 |
Immunodeficiency, Common Variable, 13 |
|
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, B lymphocytopenia |
OMIM:616873 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin rash, Palmoplan... |
ORPHA:324964 |
Galactosemia Iii |
|
Vomiting, Failure to thrive, Splenomegaly, Hepatomegaly, Jaundice |
OMIM:230350 |
Ciliary Dyskinesia, Primary, 3 |
|
Recurrent otitis media, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis |
OMIM:608644 |
Autosomal Recessive Malignant Osteopetrosis |
|
Abnormal pulmonary valve morphology, Splenomegaly, Hypocalcemia, Hepatomegaly, Hypophosphatemia, ... |
ORPHA:667 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Decreased circulating complement factor B concentration, Diarrhea, Microangiopathic hemolytic ane... |
OMIM:235400 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Recurrent otitis media, Pneumonia, Periodontitis, Bronchiolitis |
OMIM:266265 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Osteopenia, Hyperphosphatemia, Polydipsia, Metacarpal periosteal thickening, Calvarial osteoscler... |
OMIM:617994 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Progressive psychomotor deterioration, Hypercalcemia, Polyphagia, Episodic hemolytic anemia, Incr... |
ORPHA:251004 |
Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Eczematoid dermatitis, Hemolytic anemia, Hepatic failure |
OMIM:177000 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia, Feeding difficulties |
ORPHA:157973 |
Diamond-Blackfan Anemia 6 |
|
Bifid uvula, Ventricular hypertrophy, Increased mean corpuscular volume, Tracheomalacia, Persiste... |
OMIM:612561 |
Osteopetrosis With Renal Tubular Acidosis |
|
Bone marrow hypocellularity, Pancytopenia, Leukopenia, Hypocalcemia, Elevated circulating creatin... |
ORPHA:2785 |
Mogs-Cdg |
|
Decreased circulating IgG level, Nasogastric tube feeding, Decreased circulating IgA level, Hepat... |
ORPHA:79330 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Hypomagnesemia, Reduced left ventricular ejection fraction, Hypocalcemia,... |
OMIM:620152 |
Cystinosis |
|
Type I diabetes mellitus, Polydipsia, Rickets, Portal hypertension, Hypokalemia, Hypophosphatemia... |
ORPHA:213 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Oral leukoplak... |
OMIM:619767 |
Ethylene Glycol Poisoning |
|
Hypotension, Congestive heart failure, Shock, Confusion, Hypocalcemia, Gastritis, Prolonged QT in... |
ORPHA:31826 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Pneumonia, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic anemia, Chron... |
ORPHA:169090 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthritis, Psoriasiform derma... |
OMIM:106300 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level, Celiac disease, Eczematoid dermatitis, Thyroiditis |
OMIM:618985 |
Calciphylaxis |
|
Ectopic ossification, Hyperphosphatemia |
ORPHA:280062 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Recurrent respiratory infections, Chronic otitis media, Bronchiectasis, Atelectasis |
OMIM:619466 |
Erythema Elevatum Diutinum |
|
Skin rash, Increased circulating antibody level |
ORPHA:90000 |
Pancreatic insufficiency, combined exocrine |
|
Exocrine pancreatic insufficiency, Anal atresia, Hypoproteinemia, Congestive heart failure |
OMIM:260450 |
X-Linked Sideroblastic Anemia |
|
Anemia, Abnormality of iron homeostasis, Glucose intolerance, Splenomegaly |
ORPHA:75563 |
Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
Down Syndrome |
|
Atlantoaxial dislocation, Type II diabetes mellitus, Protruding tongue, Acute megakaryocytic leuk... |
ORPHA:870 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Hypoglycemia, Butterfly vertebrae, Hypocalcemia, Patent foramen ovale, Lethargy |
OMIM:607143 |
Riddle Syndrome |
|
Decreased circulating IgG level |
OMIM:611943 |
Macrocephaly/Autism Syndrome |
|
Recurrent otitis media, Lymphopenia, Obesity, Large for gestational age, Splenomegaly, Hepatomega... |
OMIM:605309 |
Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Diarrhea, Vomiting, Decreased liver function, Hepatic steatosis, Cardiomegaly, Cachexia, Hepatome... |
ORPHA:42 |
Peeling Skin Syndrome 1 |
|
Increased circulating IgE level, Eosinophilia, Erythroderma |
OMIM:270300 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... |
OMIM:615631 |
Immunodeficiency 59 And Hypoglycemia |
|
Arteritis, Acne inversa, Herpes simplex encephalitis, Recurrent aphthous stomatitis, Malabsorptio... |
OMIM:233600 |
Trehalase Deficiency |
|
Vomiting, Diarrhea, Malabsorption, Abdominal distention, Abdominal pain |
ORPHA:103909 |
Sweet Syndrome |
|
Abnormal circulating interleukin concentration, Inflammation of the large intestine, Acne inversa... |
ORPHA:3243 |
Caffey Disease |
|
Feeding difficulties in infancy, Increased circulating antibody level |
ORPHA:1310 |
Addison Disease |
|
Normocytic anemia, Thymoma, Type I diabetes mellitus, Hypotension, Hypoglycemia, Thiamine-respons... |
ORPHA:85138 |
Hirschsprung Disease |
|
Diarrhea, Failure to thrive in infancy, Functional abnormality of the gastrointestinal tract, Nau... |
ORPHA:388 |
Malignant Hyperthermia Of Anesthesia |
|
Cardiomyocyte mitochondrial proliferation, Hyperphosphatemia, Supraventricular tachycardia, High-... |
ORPHA:423 |
Linear Verrucous Nevus Syndrome |
|
Scoliosis, Mental deterioration, Hypophosphatemia, Reduced bone mineral density |
ORPHA:2611 |
Immunodeficiency 116 |
|
Recurrent respiratory infections, Bronchiectasis |
OMIM:608957 |
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1 |
|
Bone marrow hypocellularity, Enterocolitis, Failure to thrive |
OMIM:301108 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,... |
OMIM:618528 |
Alveolar Echinococcosis |
|
Biliary cirrhosis, Vomiting, Cutaneous abscess, Decreased liver function, Abnormal mesentery morp... |
ORPHA:284 |
Christianson Syndrome |
|
Cachexia, Feeding difficulties in infancy, Gastroesophageal reflux, Dysphagia |
ORPHA:85278 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Cholelithiasis, Failure to thrive, Splenomegaly, Macrocytic anemia, Cholecysti... |
OMIM:615512 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Crimean-Congo Hemorrhagic Fever |
|
Diarrhea, Morbilliform rash, Pancytopenia, Nausea and vomiting, Erythema nodosum, Anorexia, Neutr... |
ORPHA:99827 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Eczematoid dermatitis, Failure to thrive, Agammaglobulinemia, Absent circulating B cells, Seborrh... |
OMIM:619693 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Osteopenia, Hepatic fibrosis, Portal fibrosis, Hypoglycemia, Hypertrophic cardiomyopathy, Hyperli... |
ORPHA:369 |
Erythroderma, Lethal Congenital |
|
Hypoalbuminemia |
OMIM:227090 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Diarrhea, Vomiting, Failure to thrive, Abnormal intestine morphology, Feeding difficulties in inf... |
OMIM:606528 |
Coccidioidomycosis |
|
Pneumonia, Folliculitis, Granuloma, Abnormality of the spleen, Abnormality of the liver, Morbilli... |
ORPHA:228123 |
Adult-Onset Nemaline Myopathy |
|
Paraproteinemia, High palate, Neuromuscular dysphagia, Feeding difficulties |
ORPHA:171442 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Glycogen Storage Disease Ii |
|
Sinus tachycardia, Difficulty walking, Splenomegaly, Elevated circulating creatine kinase concent... |
OMIM:232300 |
Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Abnormal lymph node morphology, Abnormality of the spleen, Abnormali... |
ORPHA:543 |
Bleeding Disorder, Platelet-Type, 16 |
|
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... |
OMIM:187800 |
Squalene Synthase Deficiency |
|
Elbow flexion contracture, Hypocholesterolemia, Knee flexion contracture, Irritability, Bicuspid ... |
OMIM:618156 |
Laryngeal Neuroendocrine Tumor |
|
Weight loss, Chronic noninfectious lymphadenopathy, Oral-pharyngeal dysphagia, Anorexia |
ORPHA:100083 |
Spinocerebellar Ataxia 48 |
|
Cachexia, Dysphagia |
OMIM:618093 |
Follicular Lymphoma |
|
Splenomegaly, Weight loss, Lymphadenopathy, Abnormal peritoneum morphology, Mediastinal lymphaden... |
ORPHA:545 |
Lead Poisoning |
|
Abnormality of humoral immunity, Vomiting, Abdominal distention, Imbalanced hemoglobin synthesis,... |
ORPHA:330015 |
Kaposi Sarcoma |
|
Diarrhea, Abnormality of the spleen, Abnormality of the liver, Skin rash, Generalized lymphadenop... |
ORPHA:33276 |
Ciliary Dyskinesia, Primary, 25 |
|
Recurrent pneumonia, Gastroesophageal reflux, Recurrent otitis media, Chronic bronchitis, Recurre... |
OMIM:615482 |
Graft Versus Host Disease |
|
Diarrhea, Inflammatory abnormality of the skin, Hemophagocytosis, Hepatosplenomegaly, Inflammator... |
ORPHA:39812 |
Hyperparathyroidism, Neonatal Severe |
|
Polydipsia, Splenomegaly, Hepatomegaly, Hypophosphatemia, Calcinosis, Anemia, Hypercalcemia, Recu... |
OMIM:239200 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Allergic rhinitis, Failure to thrive, Malnutrition, Exocrine pancreatic insufficiency, Splenomega... |
OMIM:612714 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Hypomagnesemia, Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Hyp... |
OMIM:619743 |
X-Linked Immunoneurologic Disorder |
|
Decreased circulating IgG2 level |
ORPHA:2571 |
Idiopathic Bronchiectasis |
|
Emphysema, Respiratory tract infection, Acute infectious pneumonia, Recurrent lower respiratory t... |
ORPHA:60033 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Pneumonia |
ORPHA:85179 |
C1Q Deficiency 2 |
|
Discoid lupus rash, Atelectasis, Recurrent otitis media, Malar rash, Chilblains, Oral ulcer, Arth... |
OMIM:620321 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Intrahepatic cholestasis, Diarrhea, Failure to thrive, Splenomegaly, Intermittent jaundice, Cirrh... |
OMIM:601847 |
Igg4-Related Ophthalmic Disease |
|
Thyroiditis, Keratitis, Palpebral edema, Sialadenitis, Orchitis, Prostatitis, Abnormality of the ... |
ORPHA:449563 |
Acute Panmyelosis With Myelofibrosis |
|
Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye... |
ORPHA:86843 |
Diencephalic Syndrome |
|
Cachexia, Decreased body weight |
ORPHA:1672 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Recurrent pneumonia, Failure to thrive, Decreased circulating IgA level, Ileus, Splenomegaly, Hep... |
OMIM:613327 |
Fanconi-Bickel Syndrome |
|
Postprandial hyperglycemia, Osteopenia, Rickets, Glycosuria, Abnormal hepatic glycogen storage, I... |
ORPHA:2088 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Decreased lymphocyte proliferation in response to mitogen, Reduced natural killer cell count, Dec... |
ORPHA:221139 |
Tick-Borne Encephalitis |
|
Myelitis, Vomiting, Leukopenia, Abnormal circulating cytokine concentration, Leukocytosis, Nausea... |
ORPHA:297 |
Tangier Disease |
|
Coronary artery stenosis, Hypocholesterolemia, Hepatosplenomegaly, Chronic noninfectious lymphade... |
ORPHA:31150 |
Osteopetrosis, Autosomal Recessive 8 |
|
Failure to thrive, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Feeding difficulties |
OMIM:615085 |
Rh Deficiency Syndrome |
|
Stomatocytosis, Hepatosplenomegaly, Reticulocytosis, Macrocytic anemia, Anisocytosis, Spherocytos... |
ORPHA:71275 |
Scedosporiosis |
|
Pneumonia, Abnormal jejunum morphology, Bronchitis, Osteomyelitis, Arthralgia/arthritis, Sinusiti... |
ORPHA:449280 |
Sjogren Syndrome |
|
Tubulointerstitial nephritis, Rheumatoid arthritis, Xerostomia, Keratoconjunctivitis sicca |
OMIM:270150 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Recurrent pneumonia, Hypohidrosis, Colitis, Chronic diarrhea, Bronchiectasis |
OMIM:301220 |
Complement Component 4B Deficiency |
|
Decreased circulating complement C4b concentration, Recurrent pneumonia, Recurrent otitis media, ... |
OMIM:614379 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Protein-losing enteropathy, Hematochezia, Hypomagnesemia, Hypocalcemia, Hyponatr... |
OMIM:618183 |
Elliptocytosis 1 |
|
Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis |
OMIM:611804 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells |
OMIM:607616 |
Niemann-Pick Disease, Type A |
|
Vomiting, Failure to thrive, Sea-blue histiocytosis, Microcytic anemia, Ascites, Splenomegaly, He... |
OMIM:257200 |
Staphylococcal Necrotizing Pneumonia |
|
Hypotension, Shock, Confusion, Leukopenia, Leukocytosis, Lethargy, Addictive alcohol use, Neutrop... |
ORPHA:36238 |
Attrv122I Amyloidosis |
|
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... |
ORPHA:85451 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Failure to thrive in infancy, Cachexia, Constipation, Feeding difficulties |
OMIM:616801 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Type I diabetes mellitus, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume... |
OMIM:620044 |
Zygomycosis |
|
Diarrhea, Ileitis, Pustule, Colitis, Acute infectious pneumonia, Neutropenia, Abdominal pain, End... |
ORPHA:73263 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hyperbilirubinemia, Absent gallbladder, Hypocalcemia, Ventricular septal defect, Atrial septal de... |
ORPHA:163979 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Delirium, Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis |
ORPHA:208441 |
Congenital Lethal Erythroderma |
|
Hypoalbuminemia |
ORPHA:1954 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Gastrointestinal hemorrhage, Failure to thrive, Malabsorption, Neonatal cholestatic liver disease... |
ORPHA:79301 |
Mccune-Albright Syndrome |
|
Bone marrow hypocellularity, Gastroesophageal reflux, Aneurysmal bone cyst, Increased circulating... |
ORPHA:562 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Hyperphosphatemia, Hyperostosis, Subperiosteal bone formation, Calcinosis, Hypercalcemia |
OMIM:211900 |
Sapho Syndrome |
|
Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Malabsorption, Skin ... |
ORPHA:793 |
Mhc Class I Deficiency 1 |
|
Bronchiolitis, Bronchiectasis, Emphysema, Recurrent bronchitis, Chronic sinusitis, Chronic otitis... |
OMIM:604571 |
Phosphoglycerate Kinase 1 Deficiency |
|
Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis |
OMIM:300653 |
Hennekam Syndrome |
|
Camptodactyly of finger, Lymphopenia, Splenomegaly, Hypocalcemia, Lymphadenopathy, Pulmonary lymp... |
ORPHA:2136 |
Systemic Lupus Erythematosus |
|
Discoid lupus rash, Cheilitis, Leukopenia, Malar rash, Decreased circulating complement C4 concen... |
ORPHA:536 |
Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Recurrent pneumonia, Hemophagocytosis, Failure to thrive, Acute hepatic failure, He... |
OMIM:619644 |
Orofaciodigital Syndrome Viii |
|
Median cleft upper lip, Recurrent aspiration pneumonia, High palate, Cleft palate |
OMIM:300484 |
Aredyld Syndrome |
|
Hepatomegaly, Cachexia, Splenomegaly |
ORPHA:1133 |
22Q11.2 Deletion Syndrome |
|
Ventricular septal defect, Short neck, Atrial septal defect, Anal atresia, Gastrointestinal hemor... |
ORPHA:567 |
Liver Failure, Infantile, Transient |
|
Hypoalbuminemia, Hyperbilirubinemia, Irritability, Microvesicular hepatic steatosis, Hepatomegaly... |
OMIM:613070 |
Imerslund-Gräsbeck Syndrome |
|
Anisopoikilocytosis, Vomiting, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancyto... |
ORPHA:35858 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Increased mean corpuscular volume, Hypomethioninemia, Lethargy, Spastic ataxia, Megaloblastic ane... |
OMIM:277410 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Pneumonia, Diarrhea, Periodontitis, Recurrent aphthous stomatitis, Recurrent infection of the gas... |
ORPHA:486 |
Ciliary Dyskinesia, Primary, 45 |
|
Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis |
OMIM:618801 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Intrahepatic cholestasis, Hepatic failure, Diarrhea, Failure to thrive, Splenomegaly, Hepatomegal... |
OMIM:235555 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Celiac ... |
ORPHA:183675 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Hypoglycemia, Hyperammonemia, Hepati... |
OMIM:617093 |
Interstitial Lung Disease 2 |
|
Cirrhosis, Increased circulating antibody level |
OMIM:178500 |
Zika Virus Disease |
|
Myelitis, Vomiting, Skin rash, Maculopapular exanthema, Infectious encephalitis, Arthritis, Throm... |
ORPHA:448237 |
Ciliary Dyskinesia, Primary, 28 |
|
Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Recurrent respiratory ... |
OMIM:615505 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypoalbuminemia, Hypoglycemia, Hypertrophic cardiomyopathy, Hyperalaninemia, Progressive neurolog... |
OMIM:618329 |
Pancreatic Lipase Deficiency |
|
Steatorrhea, Hypocholesterolemia, Fat malabsorption |
OMIM:614338 |
Propionic Acidemia |
|
Hypoglycemia, Cardiomyopathy, Pancytopenia, Hyperglycinemia, Hyperammonemia, Hepatomegaly, Lethar... |
OMIM:606054 |
Hereditary Orotic Aciduria |
|
Anemia, Splenomegaly, Impaired T cell function |
ORPHA:30 |
Atrial Fibrillation, Familial, 14 |
|
Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension |
OMIM:615378 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia, Abnormality of the vertebral column |
OMIM:191420 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Gastrointestinal hemorrhage, Diarrhea, Gastroesophageal reflux, Vomiting, Decreased liver functio... |
ORPHA:85450 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia, Pulmonary embolism, Abnormal circulating lipid concentration, Peritonitis, Hyper... |
ORPHA:567548 |
Smith-Kingsmore Syndrome |
|
Decreased circulating IgA level, Feeding difficulties, Large for gestational age, Thrombocytopenia |
OMIM:616638 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
Pulmonary Blastoma |
|
Recurrent pneumonia, Weight loss |
ORPHA:64741 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia |
ORPHA:231401 |
Hypocomplementemic Urticarial Vasculitis |
|
Diarrhea, Conjunctivitis, Ascites, Reduced circulating complement concentration, Nausea and vomit... |
ORPHA:36412 |
Oculogastrointestinal Muscular Dystrophy |
|
Intestinal pseudo-obstruction, Gastroparesis, Malabsorption, Abnormal gastric mucosa morphology, ... |
ORPHA:1876 |
Moynahan Syndrome |
|
Cachexia |
ORPHA:2574 |
Fibrous Dysplasia Of Bone |
|
Rickets, Increased circulating cortisol level, Osteomalacia, Difficulty walking, Cortical irregul... |
ORPHA:249 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Early satiety, Diarrhea, Increased circulating IgE level, Eosinophilic infiltration of the esopha... |
OMIM:147060 |
Glycogen Storage Disease Ixb |
|
Hepatomegaly, Diarrhea, Splenomegaly, Increased hepatic glycogen content |
OMIM:261750 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... |
OMIM:612840 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Attention deficit hyperactivity disorder, Hyperch... |
OMIM:620211 |
Lassa Fever |
|
Diarrhea, Nausea and vomiting, Abdominal pain, Conjunctivitis, Jaundice, Increased circulating Ig... |
ORPHA:99824 |
Fabry Disease |
|
Mitral regurgitation, Arrhythmia, Achalasia, Cognitive impairment, Anorexia, Depression, Hypertro... |
ORPHA:324 |
Renal Tubular Acidosis, Distal, 1 |
|
Osteomalacia, Pathologic fracture, Elevated circulating creatinine concentration, Hypocalcemia, H... |
OMIM:179800 |
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature |
|
Lymphopenia, Leukopenia, Recurrent infection of the gastrointestinal tract, Neutropenia, Schistoc... |
OMIM:301110 |
Vitamin D-Dependent Rickets, Type 2A |
|
Delayed epiphyseal ossification, Rickets, Difficulty walking, Sparse bone trabeculae, Irritabilit... |
OMIM:277440 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Hepatic failure, Failure to thrive, Recurrent infection of the gastrointestinal tract, Splenomega... |
OMIM:613489 |
Immunodeficiency 75 With Lymphoproliferation |
|
Recurrent respiratory infections, Bronchiectasis |
OMIM:619126 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ... |
OMIM:301083 |
Gamma-Heavy Chain Disease |
|
Rheumatoid arthritis, Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, ... |
ORPHA:100026 |
American Trypanosomiasis |
|
Diarrhea, Splenomegaly, Skin rash, Infectious encephalitis, Aganglionic megacolon, Achalasia, Lym... |
ORPHA:3386 |
Rigid Spine Syndrome |
|
Pneumonia |
ORPHA:97244 |
Riddle Syndrome |
|
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Diarrhea, Decreased circulating ... |
ORPHA:420741 |
Infantile Myofibromatosis |
|
Limitation of joint mobility, Neoplasm of the pancreas, Intestinal obstruction, Bone cyst, Abnorm... |
ORPHA:2591 |
Paroxysmal Cold Hemoglobinuria |
|
Diarrhea, Coombs-positive hemolytic anemia, Nausea and vomiting, Autoimmune hemolytic anemia |
ORPHA:90035 |
Nk-Cell Enteropathy |
|
Hematochezia, Colonic diverticula, Diarrhea, Gastroesophageal reflux, Stercoral ulcer, Abnormal g... |
ORPHA:263665 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Ascites, Gastrointestinal infarctions, Acute hepatic failure, Malabs... |
ORPHA:131 |
Reactive Arthritis |
|
Inflammation of the large intestine, Diarrhea, Osteomyelitis, Recurrent aphthous stomatitis, Abno... |
ORPHA:29207 |
Neuroendocrine Tumor Of Stomach |
|
Hepatic failure, Lack of bowel sounds, Melena, Protracted diarrhea, Nausea and vomiting, Chronic ... |
ORPHA:100075 |
Ataxia-Telangiectasia |
|
Aplasia/Hypoplasia of the thymus, Lymphopenia, Type II diabetes mellitus, Gait disturbance, Telan... |
ORPHA:100 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:300946 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Increased mean corpuscular volume, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Ataxia, ... |
OMIM:613839 |
Glycogen Storage Disease Vii |
|
Cholelithiasis, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Gout, Reticulocytosis, ... |
OMIM:232800 |
Hermansky-Pudlak Syndrome 1 |
|
Gingival bleeding, Hematochezia, Inflammation of the large intestine, Abdominal pain, Colitis, Pu... |
OMIM:203300 |
Thrombocytopenia 5 |
|
Epistaxis, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thromb... |
OMIM:616216 |
Diamond-Blackfan Anemia 7 |
|
Osteopenia, Increased mean corpuscular volume, Secundum atrial septal defect, Tetralogy of Fallot... |
OMIM:612562 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Increased circulating beta-C-terminal telopeptide concentration, Osteomalacia, Pathologic fractur... |
ORPHA:157215 |
Typhoid |
|
Gastrointestinal hemorrhage, Diarrhea, Splenomegaly, Skin rash, Infectious encephalitis, Constipa... |
ORPHA:99745 |
Bronchogenic Cyst |
|
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal stomach morphology, Abnormal ... |
ORPHA:2357 |
Pyridoxal Phosphate-Responsive Seizures |
|
Hypoglycemia, Abnormal circulating arginine concentration, Abnormal circulating threonine concent... |
ORPHA:79096 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Cardiomegaly, Decreased circula... |
OMIM:618838 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cholelithiasis, Diarrhea, Failure to thrive, Splenomegaly, Cirrhosis, Intrahepatic cholestasis wi... |
OMIM:211600 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hyperammonemia, Hepatomegaly, Lethargy, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia, Chor... |
ORPHA:289916 |
Schimke Immuno-Osseous Dysplasia |
|
Bone marrow hypocellularity, Minimal change glomerulonephritis, Abdominal distention, Abnormal pr... |
ORPHA:1830 |
Hemolytic Anemia, Congenital, X-Linked |
|
Jaundice, Hemolytic anemia |
OMIM:301015 |
Familial Pancreatic Carcinoma |
|
Peritoneal abscess, Intestinal pseudo-obstruction, Colon cancer, Pancreatic adenocarcinoma, Exocr... |
ORPHA:1333 |
Acute Adrenal Insufficiency |
|
Normocytic anemia, Hypotension, Hypoglycemia, Hyperuricemia, Hyponatremia, Hypovolemia, Decreased... |
ORPHA:95409 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Hypoglycemia, Hyperammonemia, Irritability, Loss of ambulation, Neutropenia, Progressive neurolog... |
OMIM:618253 |
Mirage Syndrome |
|
Gastroesophageal reflux, Scoliosis, Hypoglycemia, Radial club hand, Lymphopenia, Leukopenia, Hypo... |
OMIM:617053 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... |
OMIM:615139 |
Hemochromatosis, Type 1 |
|
Increased circulating iron concentration, Cardiomyopathy, Increased circulating ferritin concentr... |
OMIM:235200 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Lymphopenia, Hepatosplenomegaly, Pancytopenia, Ataxia, Elevated circulating C-reactive protein co... |
OMIM:615688 |
Erythermalgia, Primary |
|
Diarrhea, Xerostomia, Keratoconjunctivitis sicca, Constipation, Hyperhidrosis |
OMIM:133020 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Abnormal tricuspid valve morphology, Ventricular septal defect, Intestinal atresia, Anemia, Duode... |
ORPHA:3405 |
Riboflavin Transporter Deficiency |
|
Cachexia, Dysphagia |
ORPHA:97229 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypoglycemia, Hypertrophic cardiomyopathy, Hyperglycinemia, Hyperamylasemia, Hepatic steatosis, E... |
OMIM:619386 |
Dent Disease 2 |
|
Hypophosphatemia, Cognitive impairment, Elevated circulating creatine kinase concentration |
OMIM:300555 |
Erythrocytosis, Familial, 1 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... |
OMIM:133100 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Delayed epiphyseal ossification, Rickets, Difficulty walking, Hypophosphatemic rickets, Sparse bo... |
OMIM:241530 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Rickets, Hypophosphatemic rickets, Hypophosphatemia, Craniosynostosis, Increased bone mineral den... |
OMIM:241520 |
Kearns-Sayre Syndrome |
|
Third degree atrioventricular block, Cardiomyopathy, Sideroblastic anemia, Arrhythmia, Ataxia, De... |
OMIM:530000 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Hepatitis, Acute hepatic failure, Interstitial pneumonitis, Skin rash, Infectious encephalitis, P... |
ORPHA:139402 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Self-injurious behavior, Broad-based gait, Persistence of hemoglobin F, Limb ataxia, Recurrent ha... |
OMIM:617101 |
Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Splenomegaly |
ORPHA:1802 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Portal fibrosis, Hypoglycemia, Cardiomyopathy, Cholestasis, Splenomegaly, Hepat... |
ORPHA:264580 |
Classic Galactosemia |
|
Mental deterioration, Depression, Hypoglycemia, Gait imbalance, Lethargy, Gait disturbance, Abnor... |
ORPHA:79239 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Arrhythmia, Neutropenia, Ataxia |
OMIM:616949 |
Relapsing Fever |
|
Epistaxis, Hypotension, Increased total bilirubin, Elevated circulating creatinine concentration,... |
ORPHA:91547 |
Familial Nasal Acilia |
|
Recurrent upper respiratory tract infections, Atelectasis, Chronic sinusitis, Chronic rhinitis, B... |
ORPHA:922 |
Interstitial Lung Disease 1 |
|
Usual interstitial pneumonia, Intralobular septal thickening, Interlobular septal thickening, Ele... |
OMIM:619611 |
Blau Syndrome |
|
Posterior uveitis, Xerostomia, Keratitis, Skin rash, Joint swelling, Synovitis, Iridocyclitis, Er... |
ORPHA:90340 |
Immunodeficiency 66 |
|
Pustule, Defective T cell proliferation, Recurrent skin infections |
OMIM:618847 |
Diamond-Blackfan Anemia 8 |
|
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia |
OMIM:612563 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia, Peritonitis, Irritability |
ORPHA:656 |
Sea-Blue Histiocyte Disease |
|
Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
OMIM:269600 |
Ciliary Dyskinesia, Primary, 17 |
|
Recurrent otitis media, Chronic sinusitis, Chronic rhinitis, Recurrent respiratory infections, Br... |
OMIM:614679 |
Whim Syndrome |
|
Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Lymphadenitis, Atel... |
ORPHA:51636 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Hypoalbuminemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Intraventricul... |
OMIM:619055 |
Ciliary Dyskinesia, Primary, 11 |
|
Recurrent sinusitis, Chronic bronchitis, Chronic rhinitis, Recurrent respiratory infections, Bron... |
OMIM:612649 |
Cap Polyposis |
|
Atrophic gastritis, Hematochezia, Diarrhea, Constipation, Weight loss, Abdominal distention, Abdo... |
ORPHA:160148 |
Brunner Syndrome |
|
Diarrhea |
OMIM:300615 |
Idiopathic Pulmonary Fibrosis |
|
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Gastroesophageal reflux, Honey... |
ORPHA:2032 |
Wilson Disease |
|
Hepatitis, Failure to thrive, Acute hepatic failure, Acute hepatitis, Hepatic steatosis, Splenome... |
ORPHA:905 |
Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis |
OMIM:603529 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Hypoalbuminemia, Increased serum bile acid concentration, Cirrhosis, Decreased circulating cerulo... |
OMIM:242150 |
Smith-Lemli-Opitz Syndrome |
|
Hepatic steatosis, Ventricular septal defect, Cirrhosis, Atrial septal defect, Hepatomegaly, Vent... |
OMIM:270400 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Bone marrow hypocellularity, Aplastic anemia, Oral leukoplakia, Increased mean corpuscular volume... |
OMIM:127550 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Decreased response to growth hormone stimulation test, Lymphocytic interstitial pneumonia |
OMIM:245590 |
Renpenning Syndrome |
|
High, narrow palate, Cachexia, Anal atresia, Cleft palate |
ORPHA:3242 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Obesity, Intermittent diarrhea, Feeding difficulties |
OMIM:620270 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Broad-based gait, Cholestasis, Hepatosplenomegaly, Cleft soft palate, Hepatic steatosis, Hip cont... |
OMIM:619503 |
Danon Disease |
|
Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul... |
OMIM:300257 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Diarrhea, Exocrine pancreatic insufficiency, Colitis, Iron deficiency anemia, Weight loss, Kerato... |
ORPHA:309031 |
Benign Schwannoma |
|
Abnormal esophagus morphology, Intestinal polyposis, Abnormal parotid gland morphology |
ORPHA:252164 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypoalbuminemia, Hypermethioninemia, Hypoglycemia, Congestive heart failure, Cholestasis, Hyperbi... |
OMIM:617156 |
Amegakaryocytic Thrombocytopenia, Congenital, 2 |
|
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620481 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Classic Mycosis Fungoides |
|
Eczematoid dermatitis, Abnormal lymphocyte morphology, Splenomegaly, Skin rash, Lymphadenopathy, ... |
ORPHA:2584 |
Glucagonoma |
|
Intrahepatic cholestasis, Gastrointestinal hemorrhage, Depression, Increased circulating cortisol... |
ORPHA:97280 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocyto... |
OMIM:616084 |
Diarrhea 4, Malabsorptive, Congenital |
|
Vomiting, Diarrhea, Failure to thrive |
OMIM:610370 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Diarrhea, Micronodular cirrho... |
OMIM:619849 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hypoglycemia, Elevated circulating creatinine concentration, Pancytopenia, Hepatic steatosis, Inc... |
OMIM:617872 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hematochezia, Diarrhea, Hepatic failure, Hep... |
OMIM:613812 |
Myasthenia Gravis |
|
Rheumatoid arthritis, Hepatitis, Hemolytic anemia, Myositis, Hashimoto thyroiditis, Abnormal thym... |
ORPHA:589 |
Purine Nucleoside Phosphorylase Deficiency |
|
Hypouricemia, Lymphopenia, Abnormal T cell morphology, Autoimmune hemolytic anemia, Hyperactivity... |
ORPHA:760 |
Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
Desminopathy |
|
Atrioventricular block, Concentric hypertrophic cardiomyopathy, Difficulty walking, Congestive he... |
ORPHA:98909 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly |
OMIM:607685 |
Leptospirosis |
|
Hypotension, Hepatitis, Pulmonary hemorrhage, Hepatomegaly, Arrhythmia, Jaundice, First degree at... |
ORPHA:509 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Severe failure to thrive, Cachexia, Constipation, Nasogastric tube feeding in infancy, Feeding di... |
ORPHA:371364 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Increased circulating IgE level |
ORPHA:89843 |
Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia |
OMIM:619523 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Diarrhea, Ascites, Malabsorption,... |
OMIM:602347 |
Mcdonough Syndrome |
|
Cachexia |
ORPHA:2471 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Increased circulating free fatty acid level, Hypoglycemia, Hepatic steatosis, Hepatomegaly, Hypop... |
OMIM:605911 |
Ciliary Dyskinesia, Primary, 35 |
|
Recurrent pneumonia, Chronic sinusitis, Chronic rhinitis, Chronic otitis media, Bronchiectasis |
OMIM:617092 |
Cog4-Cdg |
|
Failure to thrive in infancy, Hepatosplenomegaly, Recurrent infection of the gastrointestinal tra... |
ORPHA:263501 |
Ciliary Dyskinesia, Primary, 24 |
|
Recurrent otitis media, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis |
OMIM:615481 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Hepatomegaly, Anemia, Jaundice |
OMIM:613977 |
Noonan Syndrome 12 |
|
Anteriorly placed anus, Tetralogy of Fallot, Lymphopenia, Supravalvular aortic stenosis, Ventricu... |
OMIM:618624 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Inflammation of the large intestine, Interstitial emphysema, Absent uvula, Intestinal atresia, Re... |
OMIM:619708 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Bronchiectasis, Atelectasis |
OMIM:615872 |
Bone Dysplasia, Lethal Holmgren Type |
|
Diarrhea, Failure to thrive, Nausea and vomiting, Hepatomegaly, Weight loss, Anemia |
ORPHA:1842 |
Mucopolysaccharidosis Type 3 |
|
Craniofacial hyperostosis, Abnormal mitral valve morphology, Loss of ambulation, Ataxia, Hepatome... |
ORPHA:581 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Nasogastric tube feeding in infancy, Dysphagia, Aspiration pneumonia |
ORPHA:90117 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Hepatomegaly, Cirrhosis, H... |
OMIM:616860 |
Hypomagnesemia 3, Renal |
|
Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Polydipsia, H... |
OMIM:248250 |
Rat-Bite Fever |
|
Diarrhea, Lymphadenitis, Vomiting, Septic arthritis, Parotitis, Morbilliform rash, Abdominal asep... |
ORPHA:31205 |
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Vomiting, Diarrhea, Failure to thrive, Megaloblastic anemia, Neutropenia, Jaundice, Feeding diffi... |
OMIM:250940 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hemolytic anemia |
OMIM:609153 |
Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormal blood inorganic cation concentration, Polycythemia, Micronodular cirrhosis, Increased to... |
ORPHA:309854 |
Chronic Beryllium Disease |
|
Mediastinal lymphadenopathy, Weight loss, Abnormal proportion of CD4-positive T cells, Lymphocyti... |
ORPHA:133 |
Neuroendocrine Tumor Of The Rectum |
|
Hematochezia, Melena, Lack of bowel sounds, Tenesmus, Protracted diarrhea, Hypoactive bowel sound... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Hematochezia, Melena, Lack of bowel sounds, Tenesmus, Protracted diarrhea, Hypoactive bowel sound... |
ORPHA:100082 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Decreased erythrocyte fructose-1,... |
OMIM:611881 |
Tyrosinemia Type 1 |
|
Hepatomegaly, Splenomegaly, Acute hepatic failure, Hepatocellular carcinoma |
ORPHA:882 |
Immunodeficiency 77 |
|
Gastroparesis, Bronchiectasis, Cutaneous abscess |
OMIM:619223 |
Aspergillosis |
|
Pneumonia, Keratitis, Hepatitis, Osteomyelitis, Pleural effusion, Infectious encephalitis, Abnorm... |
ORPHA:1163 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Intractable diarrhea, Failure to thrive, Villous atrophy, Arthritis, Crypt hyperplasia, Small for... |
OMIM:613217 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of a... |
ORPHA:231154 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anemia, Thrombocytopenia, Decreased circulating complement C3 concentration, Microangiopathic hem... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anemia, Thrombocytopenia, Decreased circulating complement C3 concentration, Microangiopathic hem... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anemia, Thrombocytopenia, Decreased circulating complement C3 concentration, Microangiopathic hem... |
OMIM:612926 |
Digeorge Syndrome |
|
High, narrow palate, Bifid uvula, Cholelithiasis, Gastroesophageal reflux, Tetralogy of Fallot, S... |
OMIM:188400 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Anemia, Craniosynostosis, Smooth tongue, Hypoalbuminemia |
ORPHA:79396 |
Poems Syndrome |
|
Visceromegaly, Polycythemia, Ascites, Splenomegaly, Increased circulating antibody level, Weight ... |
ORPHA:2905 |
Specific Granule Deficiency 2 |
|
Intractable diarrhea, Recurrent pneumonia, Failure to thrive, Recurrent otitis media, Absent neut... |
OMIM:617475 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Hepatic fibrosis, Ex... |
OMIM:620005 |
Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... |
ORPHA:521 |
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form |
|
Gastroesophageal reflux, Esophagitis, Palpebral edema, Wide mouth, Feeding difficulties |
ORPHA:79350 |
Immunodeficiency 42 |
|
Recurrent aphthous stomatitis, Splenomegaly, Hypoplasia of the thymus, Recurrent cutaneous fungal... |
OMIM:616622 |
Mitchell-Riley Syndrome |
|
Meckel diverticulum, Annular pancreas, Anteriorly placed anus, Pancreatic hypoplasia, Intestinal ... |
OMIM:615710 |
Hemangioma-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:141000 |
Hermansky-Pudlak Syndrome 2 |
|
Reduced natural killer cell count, Gastroesophageal reflux, Periodontitis, Enlarged platelet dens... |
OMIM:608233 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Protein-losing enteropathy, Bradykinesia, Hyperglycinemia |
OMIM:619063 |
Diarrhea 9 |
|
Villous atrophy, Diarrhea, Failure to thrive |
OMIM:618168 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Bone marrow hypocellularity, Hepatic fibrosis, Aplastic anemia, Failure to thrive, Oral leukoplak... |
OMIM:613989 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Shuffling gait, Broad-based gait, Abnormal fear-induced behavior, Congestive heart failure, Irrit... |
ORPHA:3077 |
Hyperlipoproteinemia, Type Id |
|
Failure to thrive, Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly, Colitis |
OMIM:615947 |
Glycogen Storage Disease Ixa1 |
|
Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly |
OMIM:306000 |
Methylmalonic Aciduria, Cblb Type |
|
Dilated cardiomyopathy, Hypoglycemia, Elevated circulating propionylcarnitine concentration, Panc... |
OMIM:251110 |
Combined Malonic And Methylmalonic Aciduria |
|
Diarrhea, Vomiting, Failure to thrive |
OMIM:614265 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Ankle flexion contracture, Dilated cardiomyopathy, Hypoglycemia, Gait imbalance, Hyperammonemia, ... |
OMIM:618120 |
Dracunculiasis |
|
Diarrhea, Nausea and vomiting, Skin rash, Arthritis, Recurrent cutaneous abscess formation |
ORPHA:231 |
Acute Promyelocytic Leukemia |
|
Anorexia, Pancytopenia, Leukopenia, Leukocytosis, Weight loss, Lymphadenopathy, Neutropenia, Thro... |
ORPHA:520 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Vomiting, Malabsorption, Abnormal small intestinal mucosa morphology, Nausea, Abdominal distentio... |
ORPHA:103907 |
Familial Pseudohyperkalemia |
|
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy... |
ORPHA:90044 |
Ciliary Dyskinesia, Primary, 43 |
|
Recurrent upper respiratory tract infections, Chronic sinusitis, Chronic rhinitis, Recurrent lowe... |
OMIM:618699 |
Granulomatous Slack Skin |
|
Hypercalcemia, Abnormal lymph node morphology |
ORPHA:33111 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hypoglycemia, Cardiomyopathy, Leukopenia, Hyperglycinemia, Hyperammonemia, Lethargy, Cerebellar h... |
OMIM:251000 |
Familial Mediterranean Fever |
|
Diarrhea, Vomiting, Erysipelas, Leukocytosis, Splenomegaly, Chronic constipation, Crohn's disease... |
OMIM:249100 |
Catastrophic Antiphospholipid Syndrome |
|
Microangiopathic hemolytic anemia, Gastrointestinal infarctions, Abnormal circulating cytokine co... |
ORPHA:464343 |
Eisenmenger Syndrome |
|
Abnormal circulating B-type natriuretic peptide concentration, Ventricular septal defect, Elevate... |
ORPHA:97214 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diarrhea, Megaloblastic anemia, Thrombocytopenia, Anorexia |
ORPHA:49827 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Diarrhea, Gastroesophageal reflux, Nasogastric tube feeding, Decreased body weight, Iron deficien... |
OMIM:607906 |
Atelis Syndrome 1 |
|
Carious teeth, Eczematoid dermatitis, Long philtrum, Glue ear, Hypothyroidism, High palate, Bronc... |
OMIM:620184 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Hypocholesterolemia, Decreased LDL cholesterol concentration, Decreased HDL cholesterol concentra... |
OMIM:616834 |
Familial Isolated Hypoparathyroidism |
|
Arrhythmia, Hypocalcemia |
ORPHA:2238 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Intermittent jaundice |
OMIM:179700 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Posterior uveitis, Nongranulomatous uveitis, Panuveitis, Reduced hematocrit, S... |
ORPHA:91500 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anemia, Thrombocytopenia, Decreased circulating complement C3 concentration, Microangiopathic hem... |
OMIM:612925 |
Ciliary Dyskinesia, Primary, 34 |
|
Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis, Chronic rhinitis |
OMIM:617091 |
Caroli Disease |
|
Cholestasis, Cirrhosis, Weight loss, Anorexia, Hepatomegaly, Abdominal pain, Jaundice, Esophageal... |
ORPHA:53035 |
Ciliary Dyskinesia, Primary, 26 |
|
Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Recurrent respiratory ... |
OMIM:615500 |
Infantile Sialic Acid Storage Disease |
|
Failure to thrive, Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, Hig... |
OMIM:269920 |
Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis |
ORPHA:713 |
Necrotizing Enterocolitis |
|
Diarrhea, Abdominal distention, Vomiting, Small for gestational age, Hypoactive bowel sounds, Asc... |
ORPHA:391673 |
Ciliary Dyskinesia, Primary, 16 |
|
Bronchiectasis, Chronic otitis media, Chronic sinusitis, Chronic rhinitis |
OMIM:614017 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... |
OMIM:612158 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... |
OMIM:233710 |
Somatostatinoma |
|
Intrahepatic cholestasis, Gastrointestinal hemorrhage, Increased circulating cortisol level, Hype... |
ORPHA:97283 |
Aicardi-Goutieres Syndrome 4 |
|
Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly, Feeding difficulties |
OMIM:610333 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Portal hypertension... |
OMIM:620367 |
Immunodeficiency 13 |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent otitis media, Recurr... |
OMIM:615518 |
Ciliary Dyskinesia, Primary, 32 |
|
Recurrent otitis media, Chronic sinusitis, Chronic rhinitis, Recurrent respiratory infections, Br... |
OMIM:616481 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Ell... |
OMIM:300835 |
Dubowitz Syndrome |
|
Gastroesophageal reflux, Aplastic anemia, Velopharyngeal insufficiency, Hypocholesterolemia, Shor... |
OMIM:223370 |
Tafro Syndrome |
|
Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy, T... |
ORPHA:457077 |
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of |
|
Enlargement of parotid gland |
OMIM:600343 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice |
OMIM:224100 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Atrioventricular block, Glucose intolerance, Joint contracture of the 5th finger, Bradycardia, Tr... |
OMIM:614407 |
Oculopharyngodistal Myopathy |
|
High, narrow palate, Oral-pharyngeal dysphagia, High palate, Recurrent aspiration pneumonia, Impa... |
ORPHA:98897 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Hypercalcemia, Gait ataxia, Complete atrioventricular canal defect, Self-mutilation, Aggressive b... |
ORPHA:476126 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Pneumonia, Cerebral edema |
OMIM:608033 |
Ciliary Dyskinesia, Primary, 37 |
|
Chronic rhinitis, Hypothyroidism, Bronchiectasis, Goiter |
OMIM:617577 |
Fanconi Anemia, Complementation Group T |
|
Bone marrow hypocellularity, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia |
OMIM:616435 |
Hellp Syndrome |
|
Vomiting, Microangiopathic hemolytic anemia, Hemolytic anemia, Increased body weight, Nausea, Thr... |
ORPHA:244242 |
Nijmegen Breakage Syndrome |
|
Anal stenosis, Diarrhea, Recurrent pneumonia, Recurrent otitis media, Recurrent infection of the ... |
OMIM:251260 |
Trichothiodystrophy 6, Nonphotosensitive |
|
Coronal craniosynostosis, Broad-based gait, Increased HbA2 hemoglobin, Increased bone mineral den... |
OMIM:616943 |
Rh-Null, Amorph Type |
|
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis |
OMIM:617970 |
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome |
|
Bronchiectasis |
ORPHA:2375 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Insulin resistance, Broad-based gait, Dilated cardiomyopathy, Abnormal circulating lipid concentr... |
OMIM:616541 |
Lacrimoauriculodentodigital Syndrome |
|
Bifid uvula, Abnormality of the dentition, Carious teeth, Xerostomia, Abnormal dental enamel morp... |
ORPHA:2363 |
Attrv30M Amyloidosis |
|
Cardiomegaly, Diarrhea, Weight loss, Constipation |
ORPHA:85447 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia |
OMIM:206100 |
Ciliary Dyskinesia, Primary, 5 |
|
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic rhi... |
OMIM:608647 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Hypoglycemia, Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentration, De... |
OMIM:618835 |
Galactokinase Deficiency |
|
Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly, Hypercholesterolemia, Increased level of gala... |
ORPHA:79237 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Narrow palate, Cachexia, Gastroesophageal reflux, High palate |
OMIM:618186 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Cardiomyopathy, Hypoglycemia, Elevated circulating creatine kinase concentration, Decreased circu... |
OMIM:618839 |
Hb Bart'S Hydrops Fetalis |
|
Congestive heart failure, Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Anemia, Pericarditis |
ORPHA:163596 |
Lysinuric Protein Intolerance |
|
Abnormality of humoral immunity, Diarrhea, Hemophagocytosis, Hepatosplenomegaly, Increased circul... |
ORPHA:470 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... |
OMIM:233690 |
Bone Marrow Failure Syndrome 3 |
|
Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Persistence of h... |
OMIM:617052 |
Bloom Syndrome |
|
Decreased circulating IgG level, Bronchiectasis, Leukemia, Decreased circulating IgA level, Malar... |
OMIM:210900 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Decreased circulating IgA level, Large for gestational age, Lactose intolerance, Protuberant abdo... |
ORPHA:457485 |
Burning Mouth Syndrome |
|
Abnormality of the gingiva, Strawberry tongue, Xerostomia, Smooth tongue |
ORPHA:353253 |
Diamond-Blackfan Anemia |
|
Macrocytic dyserythropoietic anemia, Persistence of hemoglobin F, Cleft soft palate, Ventricular ... |
ORPHA:124 |
X-Linked Creatine Transporter Deficiency |
|
Aganglionic megacolon, Cachexia, Ileus, Constipation |
ORPHA:52503 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemia, Hypophosphatemic rickets, Rickets, Osteomalacia |
OMIM:193100 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Vasculitis, Difficulty walking, Inability to walk, Hypertrophic cardiomyopathy, Transient ischemi... |
ORPHA:365 |
Congenital Heart Block |
|
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... |
ORPHA:60041 |
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Folate-unresponsive megaloblastic anemia, Diarrhea, Abnormal erythrocyte morphology, Gastritis, M... |
ORPHA:2575 |
Multifocal Atrial Tachycardia |
|
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... |
ORPHA:3282 |
Cryoglobulinemic Vasculitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Gastrointestinal infarctions, Abnormality of the li... |
ORPHA:91138 |
Neuroendocrine Tumor Of The Colon |
|
Melena, Lack of bowel sounds, Protracted diarrhea, Hypoactive bowel sounds, Chronic noninfectious... |
ORPHA:100080 |
Megaloblastic Anemia, Folate-Responsive |
|
Folate-responsive megaloblastic anemia, Episodic hemolytic anemia, Schistocytosis, Hypersegmentat... |
OMIM:601775 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Nasogastric tube feeding, Aspiration pneumonia |
OMIM:619057 |
Diffuse Alveolar Hemorrhage |
|
Leukocytosis, Decreased circulating complement C4 concentration, Weight loss, Thrombocytopenia, A... |
ORPHA:90060 |
Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Chronic mucocutaneous candidia... |
OMIM:614868 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypouricemia, Rickets, Glycosuria, Hypoglycemia, Hypophosphatemia, Hepatomegaly, Diabetes mellitus |
OMIM:616026 |
Kikuchi-Fujimoto Disease |
|
Vasculitis, Abnormal lymph node morphology, Cervical lymphadenopathy, Anorexia, Leukopenia, Enlar... |
ORPHA:50918 |
Ciliary Dyskinesia, Primary, 12 |
|
Chronic otitis media, Chronic sinusitis, Chronic rhinitis, Recurrent respiratory infections, Bron... |
OMIM:612650 |
Congenital Disorder Of Glycosylation, Type Iib |
|
Decreased circulating IgA level, Feeding difficulties in infancy, Hepatomegaly, High palate, Decr... |
OMIM:606056 |
Nijmegen Breakage Syndrome |
|
Acute leukemia, Anal stenosis, Recurrent pneumonia, Anorectal anomaly, Autoimmune hemolytic anemi... |
ORPHA:647 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Uveitis, Diarrhea, Vomiting, Erysipelas, Fasciitis, Leukocytosis, Splenomegaly, Intestinal obstru... |
ORPHA:32960 |
Systemic Capillary Leak Syndrome |
|
Diarrhea, Leukocytosis, Weight loss, Pancreatitis, Myocarditis, Abdominal pain, Pericarditis |
ORPHA:188 |
Ciliary Dyskinesia, Primary, 13 |
|
Recurrent otitis media, Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis |
OMIM:613193 |
B4Galt1-Cdg |
|
Diarrhea, Inflammatory abnormality of the skin, Splenomegaly, Hepatomegaly, Small for gestational... |
ORPHA:79332 |
Sarcoidosis, Susceptibility To, 2 |
|
Emphysema, Pleural effusion, Pneumothorax, Erythema nodosum, Abnormal pulmonary interstitial morp... |
OMIM:612387 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Hypermanganesemia With Dystonia 1 |
|
Polycythemia, Increased total iron binding capacity, Steppage gait, Hypermanganesemia, Cirrhosis,... |
OMIM:613280 |
Immunodeficiency 54 |
|
Reduced natural killer cell count, Failure to thrive, Splenomegaly, Lymphadenopathy, Hepatomegaly |
OMIM:609981 |
Adamantinoma |
|
Pathologic fracture, Hypercalcemia |
ORPHA:55881 |
Ciliary Dyskinesia, Primary, 7 |
|
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis |
OMIM:611884 |
Antisynthetase Syndrome |
|
Xerostomia, Skin rash, Myositis, Keratoconjunctivitis sicca, Arthritis, Myocarditis, Abnormal pul... |
ORPHA:81 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypoalbuminemia, Hypernatremia, Multiple muscular ventricular septal defects, Eosinophilic infilt... |
OMIM:615508 |
Malt Lymphoma |
|
Posterior uveitis, Nausea and vomiting, Constipation, Weight loss, Lymphadenopathy, Anemia, Abdom... |
ORPHA:52417 |
Mgat2-Cdg |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Gastr... |
ORPHA:79329 |
Griscelli Syndrome Type 2 |
|
Hemophagocytosis, Pancytopenia, Nausea and vomiting, Splenomegaly, Lymphadenopathy, Neutropenia, ... |
ORPHA:79477 |
Pleural Mesothelioma |
|
Hepatomegaly, Weight loss, Dysphagia, Lymphadenopathy |
ORPHA:50251 |
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Conical tooth, Absent nipple, Xerostomia, Recurrent respiratory infections, Hypodontia, Hypoplast... |
OMIM:614941 |
Kasabach-Merritt Phenomenon |
|
Abdominal distention, Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Abnormal ly... |
ORPHA:2330 |
Cardiomyopathy, Dilated, 1V |
|
Dilated cardiomyopathy, Congestive heart failure, Dementia, Reduced left ventricular ejection fra... |
OMIM:613697 |
Fanconi Anemia, Complementation Group B |
|
Abnormal vertebral morphology, Aplastic anemia, Ventricular septal defect, Short neck, Tracheoeso... |
OMIM:300514 |
Neonatal Alloimmune Neutropenia |
|
Pneumonia |
ORPHA:464370 |
Primary Sjögren Syndrome |
|
Arteritis, Xerostomia, Lymphopenia, Chronic hepatitis, Decreased proportion of CD4-positive helpe... |
ORPHA:289390 |
Barth Syndrome |
|
Dilated cardiomyopathy, Elevated monolysocardiolipin/cardiolipin ratio, Congestive heart failure,... |
OMIM:302060 |
Hemochromatosis, Type 2B |
|
Hepatic fibrosis, Splenomegaly, Hepatomegaly, Cirrhosis, Anemia |
OMIM:613313 |
Pouchitis |
|
Hematochezia, Diarrhea, Tenesmus, Clostridium difficile colitis, Bowel urgency, Abdominal pain, A... |
ORPHA:217067 |
Abetalipoproteinemia |
|
Fat malabsorption, Acanthocytosis, Abetalipoproteinemia, Ataxia |
OMIM:200100 |
Vipoma |
|
Intrahepatic cholestasis, Increased circulating cortisol level, Abnormal gastrointestinal motilit... |
ORPHA:97282 |
Shwachman-Diamond Syndrome 1 |
|
Myocardial necrosis, Persistence of hemoglobin F, Exocrine pancreatic insufficiency, Pancytopenia... |
OMIM:260400 |
Phoar2-Enteropathy Syndrome |
|
Hypoalbuminemia, Hyperostosis, Periostosis |
OMIM:614441 |
Diamond-Blackfan Anemia 1 |
|
Persistence of hemoglobin F, Ventricular septal defect, Short neck, Atrial septal defect, Neutrop... |
OMIM:105650 |
Tetrasomy 12P |
|
Abnormal soft palate morphology, Cachexia, Anal atresia |
ORPHA:884 |
Type 1 Diabetes Mellitus 10 |
|
Diabetes mellitus |
OMIM:601942 |
Kindler Epidermolysis Bullosa |
|
Inflammation of the large intestine, Carious teeth, Periodontitis, Conjunctivitis, Abnormal denta... |
ORPHA:2908 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Type I diabetes mellitus, Atrioventricular block, Carpal osteolysis, Abnormal form of... |
ORPHA:371428 |
Pyropoikilocytosis, Hereditary |
|
Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis, Elliptocytosis |
OMIM:266140 |
Cinca Syndrome |
|
Leukocytosis, Splenomegaly, Nausea and vomiting, Hepatomegaly, Inflammatory abnormality of the ey... |
ORPHA:1451 |
Fanconi-Bickel Syndrome |
|
Postprandial hyperglycemia, Hypouricemia, Intrahepatic cholestasis, Rickets, Glycosuria, Osteomal... |
OMIM:227810 |
Vici Syndrome |
|
Decreased circulating IgG level, Cutaneous anergy, Failure to thrive, Chronic mucocutaneous candi... |
OMIM:242840 |
Obesity Due To Congenital Leptin Deficiency |
|
Decreased T cell activation, Obesity, Decreased proportion of CD4-positive helper T cells |
ORPHA:66628 |
Neurofibroma |
|
Intestinal bleeding, Recurrent otitis media, Enlargement of parotid gland, Neoplasm of the trache... |
ORPHA:252183 |
Long Qt Syndrome 13 |
|
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... |
OMIM:613485 |
Juvenile Nephropathic Cystinosis |
|
Hypouricemia, Polydipsia, Glycosuria, Elevated circulating creatinine concentration, Hypocalcemic... |
ORPHA:411634 |
Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemia, Hypophosphatemic rickets, Hypertension, Glycosuria |
OMIM:618913 |
Leukocyte Adhesion Deficiency Type Ii |
|
Recurrent pneumonia, Keratitis, Failure to thrive, Microcytic anemia, Recurrent otitis media, Leu... |
ORPHA:99843 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Sideroblastic anemia, Splenomegaly, Hepatomegaly, Hypochromia, Poikilocytosis, Anemia, Elevated h... |
OMIM:615234 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Unbalanced atrioventricular canal defect, Cholestasis, Hyperbilirubinemia, Congenital hepatic fib... |
OMIM:619534 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Self-injurious behavior, Bifid uvula, Broad-based gait, Fixated interests, Emotional lability, Hy... |
OMIM:620330 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypermagnesemia, Peptic ulcer, Depression, Osteomalacia, Hypophosphatemia, Pancreatitis, Hypercal... |
OMIM:600740 |
Velocardiofacial Syndrome |
|
Velopharyngeal insufficiency, Tetralogy of Fallot, Emotional lability, Submucous cleft hard palat... |
OMIM:192430 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Inflammation of the large intestine, Diarrhea, Periodontitis, Failure to thrive, Ulcerative colit... |
ORPHA:79259 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Carious teeth, Xerostomia, Selective tooth agenesis, Cleft upper lip, Decreased response to growt... |
OMIM:129900 |
Ciliary Dyskinesia, Primary, 51 |
|
Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis |
OMIM:620438 |
Mody |
|
Abnormal oral glucose tolerance, Glycosuria, Insulin-resistant diabetes mellitus, Pancreatic hypo... |
ORPHA:552 |
C3 Glomerulopathy |
|
Paraproteinemia, Decreased circulating complement C3 concentration, Decreased circulating complem... |
ORPHA:329918 |
Anemia, Sideroblastic, 1 |
|
Sideroblastic anemia, Hypochromic microcytic anemia, Anemia of inadequate production, Macrocytic ... |
OMIM:300751 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hypertrophic cardiomyopathy, Hypocholesterolemia, Hepatomegaly |
OMIM:618810 |
Undifferentiated Pleomorphic Sarcoma |
|
Weight loss, Abnormal peritoneum morphology, Anorexia |
ORPHA:2023 |
Nodular Non-Suppurative Panniculitis |
|
Nausea and vomiting, Splenomegaly, Inflammatory abnormality of the eye, Weight loss, Hepatomegaly... |
ORPHA:33577 |
Hypotrichosis Simplex Of The Scalp |
|
Increased circulating IgE level, Allergic rhinitis, Atopic dermatitis |
ORPHA:90368 |
8P11.2 Deletion Syndrome |
|
Splenomegaly, Spherocytosis, High palate, Hemolytic anemia, Feeding difficulties |
ORPHA:251066 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis |
OMIM:166910 |
Ornithine Transcarbamylase Deficiency |
|
Hyperammonemia, Splenomegaly, Hypoglycemia, Pyloric stenosis |
ORPHA:664 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypocalcemia, Mitral valve prolapse |
ORPHA:1563 |
Thymic Neuroendocrine Tumor |
|
Osteopenia, Increased circulating cortisol level, Neoplasm of the thymus, Hypercalcemia, Chronic ... |
ORPHA:97289 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Hepatomegaly, Fetal ascites, Splenomegaly |
OMIM:619462 |
Intestinal Botulism |
|
Nausea and vomiting, Diarrhea, Xerostomia, Dysphagia |
ORPHA:178481 |
Familial Mediterranean Fever |
|
Diarrhea, Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Ery... |
ORPHA:342 |
Lactase Deficiency, Congenital |
|
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level |
OMIM:223000 |
Ciliary Dyskinesia, Primary, 15 |
|
Recurrent pneumonia, Recurrent otitis media, Chronic sinusitis, Chronic bronchitis, Recurrent res... |
OMIM:613808 |
Periodic Fever, Familial, Autosomal Dominant |
|
Gastrointestinal hemorrhage, Vomiting, Erysipelas, Conjunctivitis, Hepatic amyloidosis, Cervical ... |
OMIM:142680 |
Alg8-Cdg |
|
Diarrhea, Vomiting, Failure to thrive, Ascites, Abnormality of the gastrointestinal tract, Thromb... |
ORPHA:79325 |
Acquired Hypertrichosis Lanuginosa |
|
Weight loss, Lymphadenopathy, Macroglossia, Glossitis, Chronic diarrhea, Poor appetite |
ORPHA:2221 |
Galloway-Mowat Syndrome 1 |
|
Hypoalbuminemia, Joint contracture of the hand, Hiatus hernia, Ataxia, Camptodactyly, High palate |
OMIM:251300 |
Oculocerebrorenal Syndrome Of Lowe |
|
Osteomalacia, Hypophosphatemia, Motor stereotypy, Self-injurious behavior, Gastroesophageal reflu... |
ORPHA:534 |
Aregenerative Anemia |
|
Bone marrow hypocellularity, Abnormal circulating interleukin concentration, Pancytopenia, Decrea... |
ORPHA:101096 |
Benign Recurrent Intrahepatic Cholestasis |
|
Cholestatic liver disease, Cholelithiasis, Anorexia, Nausea and vomiting, Abdominal pain, Cirrhos... |
ORPHA:65682 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Pathologic fracture, Hip contracture, Knee flexion contracture, Hypophosphatemia, Hyp... |
OMIM:156400 |
Acute Lung Injury |
|
Pneumonia, Diffuse alveolar hemorrhage, Abnormal pulmonary interstitial morphology, Acute pancrea... |
ORPHA:178320 |
Sandifer Syndrome |
|
Gastroesophageal reflux, Esophagitis, Hiatus hernia, Hematemesis, Episodic vomiting, Feeding diff... |
ORPHA:71272 |
Pandas |
|
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... |
ORPHA:66624 |
Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Rickets, Glycosuria, Osteomalacia, Hypophosphatemia, Recurrent fractures |
OMIM:613388 |
Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Second degree atrioventricular block, Biventricular hypertrophy, Patent foramen ovale, Decreased ... |
OMIM:615474 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased T cell activation, Obesity, Decreased proportion of CD4-positive helper T cells |
ORPHA:179494 |
Hypercalcemia, Infantile, 2 |
|
Hypophosphatemia, Hypercalcemia |
OMIM:616963 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Stomatocytosis, Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia |
OMIM:608885 |
Congenital Tufting Enteropathy |
|
Cholestatic liver disease, Vomiting, Secretory diarrhea, Failure to thrive, Abnormal large intest... |
ORPHA:92050 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia, Athetosis |
ORPHA:621 |
Congenital Short Bowel Syndrome |
|
Congenital shortened small intestine, Decreased intestinal transit time, Vomiting, Failure to thr... |
OMIM:615237 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic fibrosis, Hepatic failure, Portal fibrosis, Portal hypertension, Splenomegaly, Iron defic... |
OMIM:616278 |
Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
Ciliary Dyskinesia, Primary, 19 |
|
Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Recurrent respiratory ... |
OMIM:614935 |
Plague |
|
Inflammation of the large intestine, Diarrhea, Lymphadenitis, Ileitis, Acute infectious pneumonia... |
ORPHA:707 |
Hereditary Central Diabetes Insipidus |
|
Diarrhea, Vomiting, Weight loss |
ORPHA:30925 |
Sucrase-Isomaltase Deficiency, Congenital |
|
Abdominal pain, Diarrhea, Malabsorption |
OMIM:222900 |
Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy... |
ORPHA:158029 |
Immunodeficiency 55 |
|
Diarrhea, Absent natural killer cells, Eczematoid dermatitis, Lymphopenia, Lymphadenopathy, Neutr... |
OMIM:617827 |
Elliptocytosis 3 |
|
Intermittent jaundice, Pyropoikilocytosis, Elliptocytosis, Decreased mean corpuscular volume, Chr... |
OMIM:617948 |
Atrial Standstill |
|
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Left ventricular no... |
ORPHA:1344 |
Pituitary Adenoma 4, Acth-Secreting |
|
Abnormal fear-induced behavior, Glucose intolerance, Emotional lability, Biconcave vertebral bodi... |
OMIM:219090 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Second degree atrioventricular block, Difficulty walking, Palpitations, Sinus bradycardia, Loss o... |
OMIM:616812 |
Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple... |
ORPHA:227990 |
Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Malabsorption, Chronic diarrhea, Cachexia, Steatorrhea, Duodenal ulcer |
ORPHA:3217 |
Fanconi Anemia, Complementation Group F |
|
Bone marrow hypocellularity, Leukopenia, Atrial septal defect, Thrombocytopenia, Anemia, Duodenal... |
OMIM:603467 |
Galloway-Mowat Syndrome 3 |
|
Hypoalbuminemia, Hiatus hernia, Camptodactyly, High palate, Hypertension |
OMIM:617729 |
Aplasia Of Lacrimal And Salivary Glands |
|
Carious teeth, Xerostomia, Lacrimal gland hypoplasia, Lacrimal gland aplasia |
OMIM:180920 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Malabsorption, Agammaglobulinemia, Aganglionic megacolon, Anemia, Abnormality of the... |
ORPHA:935 |
Congenital Factor Xiii Deficiency |
|
Gingival bleeding, Inflammation of the large intestine, Hepatic failure |
ORPHA:331 |
Cholestasis-Lymphedema Syndrome |
|
Erysipelas, Malabsorption, Neonatal cholestatic liver disease, Splenomegaly, Cirrhosis, Hepatomeg... |
OMIM:214900 |
Autoerythrocyte Sensitization Syndrome |
|
Impaired platelet adhesion, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Abnormal erythrocyte... |
ORPHA:324636 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Bronchiectasis, Diarrhea, Weight loss, Lymphadenopathy |
ORPHA:411703 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrioventricular block, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular dissocia... |
OMIM:614954 |
Lysinuric Protein Intolerance |
|
Diarrhea, Vomiting, Hemophagocytosis, Failure to thrive, Malnutrition, Leukopenia, Splenomegaly, ... |
OMIM:222700 |
Central Diabetes Insipidus |
|
Diarrhea, Failure to thrive, Nausea and vomiting, Weight loss, Anorexia |
ORPHA:178029 |
Pelizaeus-Merzbacher Disease |
|
Failure to thrive in infancy, Cachexia, Bowel incontinence |
ORPHA:702 |
Systemic Lupus Erythematosus 17 |
|
Hypertensive crisis, Lymphopenia, Leukopenia, Mitral regurgitation, Raynaud phenomenon, Thrombocy... |
OMIM:301080 |
Elliptocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Elliptocytosis |
OMIM:130600 |
Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Neonatal cholestatic liver diseas... |
ORPHA:1414 |
Kearns-Sayre Syndrome |
|
Progressive intervertebral space narrowing, Third degree atrioventricular block, Ataxia |
ORPHA:480 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Epistaxis, Ventricular hypertrophy, Second degree atrioventricular block, Polydipsia, Hyperaldost... |
ORPHA:369929 |
Cystinosis, Nephropathic |
|
Decreased circulating carnitine concentration, Polydipsia, Glycosuria, Rickets, Hypomagnesemia, E... |
OMIM:219800 |
Cardiomyopathy, Dilated, 1U |
|
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... |
OMIM:613694 |
Pearson Marrow-Pancreas Syndrome |
|
Type I diabetes mellitus, Anorexia, Sideroblastic anemia, Pancytopenia, Villous atrophy, Hyperbil... |
OMIM:557000 |
Schimke Immunoosseous Dysplasia |
|
Platyspondyly, Osteopenia, Lymphopenia, Pancytopenia, Abnormal T cell morphology, Transient ische... |
OMIM:242900 |
16Q24.3 Microdeletion Syndrome |
|
Dilated cardiomyopathy, Increased mean corpuscular volume, Mitral regurgitation, Ventricular sept... |
ORPHA:261250 |
Gray Platelet Syndrome |
|
Splenomegaly, Thrombocytopenia |
ORPHA:721 |
Herpes Simplex Virus Encephalitis |
|
Leukocytosis, Hyponatremia, Addictive alcohol use, Neutrophilia, Elevated circulating C-reactive ... |
ORPHA:1930 |
Gaucher Disease, Type Iii |
|
Pancytopenia, Splenomegaly, Decreased body weight, Thrombocytopenia, Hepatomegaly |
OMIM:231000 |
Kilquist Syndrome |
|
Gastroesophageal reflux, Xerostomia, Intestinal malrotation, Chronic constipation, Midgut malrota... |
OMIM:619080 |
Left Ventricular Noncompaction 1 |
|
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... |
OMIM:604169 |
Sandhoff Disease, Juvenile Form |
|
Diarrhea, Dysphagia, Failure to thrive, Constipation |
ORPHA:309162 |
Familial Isolated Hyperparathyroidism |
|
Generalized osteoporosis, Osteopenia, Hypophosphatemia, Hypercalcemia |
ORPHA:99879 |
Beta-Ketothiolase Deficiency |
|
Ataxia, Hypotension, Hypoglycemia, Anorexia, Hyperglycemia, Leukocytosis, Hyperammonemia, Hyperur... |
ORPHA:134 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Periostitis, Osteomyelitis, Splenomegaly, Abscess, Hepatomegaly, Neutrophilia, Elevat... |
OMIM:612852 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Pulmonary edema, Respiratory tract infection, Atelectasis |
ORPHA:70587 |
Immunodeficiency 21 |
|
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Osteomyelitis, Anemia, Neutropen... |
OMIM:614172 |
Silver-Russell Syndrome |
|
Gastroesophageal reflux, Failure to thrive in infancy, Obesity, Cachexia, Constipation, Feeding d... |
ORPHA:813 |
Chediak-Higashi Syndrome |
|
Periodontitis, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Hepatomegal... |
OMIM:214500 |
Acquired Methemoglobinemia |
|
Confusion, Palpitations, Methemoglobinemia, Arrhythmia, Syncope, Tachycardia |
ORPHA:464453 |
Neuroblastoma, Susceptibility To, 1 |
|
Diarrhea, Failure to thrive, Weight loss, Anemia, Abdominal pain, Abdominal mass |
OMIM:256700 |
Carney Triad |
|
Gastrointestinal hemorrhage, Diarrhea, Ascites, Nausea and vomiting, Gastrointestinal stroma tumo... |
ORPHA:139411 |
Osteootohepatoenteric Syndrome |
|
Hepatic fibrosis, Portal fibrosis, Secretory diarrhea, Failure to thrive, Cholestasis, Increased ... |
OMIM:619377 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation... |
OMIM:604772 |
Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:610629 |
Subcorneal Pustular Dermatosis |
|
Pustule, Rheumatoid arthritis, Increased circulating antibody level |
ORPHA:48377 |
Non-Functioning Paraganglioma |
|
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... |
ORPHA:94080 |
Charge Syndrome |
|
Lymphopenia, Ventricular septal defect, Overriding aorta, Atrial septal defect, Anal atresia, Dys... |
OMIM:214800 |
Atrial Standstill 1 |
|
Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, Premature atrial contra... |
OMIM:108770 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Gastroesophageal reflux, Vomiting, Failure to thrive, Hilar lymph node enlargement, Cholestasis, ... |
OMIM:620233 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Feeding difficulties in infancy, Failure to thrive, Splenomegaly, Macrocytic anemia |
OMIM:619046 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Osteopenia, Hypercalcemia, Craniosynostosis |
OMIM:614732 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Anal stenosis, Carious teeth, Xerostomia, Selective tooth agenesis, Cleft upper lip, Decreased re... |
OMIM:604292 |
Reynolds Syndrome |
|
Gastroesophageal reflux, Xerostomia, Ascites, Skin rash, Abnormal gastric mucosa morphology, Infe... |
ORPHA:779 |
Hypophosphatemic Bone Disease |
|
Hypophosphatemia, Rickets, Osteomalacia |
OMIM:146350 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Emphysema, Respiratory tract infection, Chronic bronchitis, Honeycomb lung, Hypersensitivity pneu... |
ORPHA:79127 |
Rh-Null, Regulator Type |
|
Jaundice, Stomatocytosis, Hemolytic anemia |
OMIM:268150 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Hepatosplenomegaly, Weight loss, Panniculitis, Hemophagocytosis |
ORPHA:86884 |
Ciliary Dyskinesia, Primary, 38 |
|
Rhinitis, Chronic otitis media, Bronchiectasis, Chronic sinusitis |
OMIM:618063 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia |
ORPHA:1389 |
Transaldolase Deficiency |
|
Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Failure to thrive, Hepatosple... |
OMIM:606003 |
Rasmussen Subacute Encephalitis |
|
Decreased circulating total IgA |
ORPHA:1929 |
Fanconi Renotubular Syndrome 1 |
|
Rickets, Glycosuria, Osteomalacia, Hypokalemia, Hypophosphatemia |
OMIM:134600 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Delayed epiphyseal ossification, Rickets, Osteomalacia, Hypophosphatemic rickets, Sparse bone tra... |
OMIM:300554 |
Oslam Syndrome |
|
Radioulnar synostosis, Abnormality of neutrophils, Increased mean corpuscular volume |
ORPHA:2760 |
Hyperparathyroidism 4 |
|
Osteopenia, Hypercalcemia |
OMIM:617343 |
Hypohidrotic Ectodermal Dysplasia |
|
Abnormality of the dentition, Xerostomia, Eczematoid dermatitis, Tooth agenesis, Breast aplasia, ... |
ORPHA:238468 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hepatic fibrosis, Cholelithiasis, Bacterial endocarditis, Abnormality of the spleen, Hepatospleno... |
ORPHA:2072 |
Primary Familial Polycythemia |
|
Epistaxis, Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Vici Syndrome |
|
Decreased circulating IgG level, Decreased circulating IgG2 level, Feeding difficulties in infanc... |
ORPHA:1493 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Diarrhea, Cardiomegaly, Splenomegaly |
OMIM:252920 |
Pancreatic Colipase Deficiency |
|
Cholelithiasis, Exocrine pancreatic insufficiency, Megaloblastic anemia, Steatorrhea, Chronic dia... |
ORPHA:309108 |
Fanconi Anemia, Complementation Group V |
|
Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-fe... |
OMIM:617243 |
Infantile Krabbe Disease |
|
Vomiting, Gastroesophageal reflux, Failure to thrive, Cachexia, Nasogastric tube feeding in infan... |
ORPHA:206436 |
Ileal Neuroendocrine Tumor |
|
Hepatic failure, Intestinal fistula, Zollinger-Ellison syndrome, Small intestine carcinoid, Episo... |
ORPHA:100078 |
Camurati-Engelmann Disease |
|
Slender build, Leukopenia, Splenomegaly, Hepatomegaly, Feeding difficulties in infancy, Cachexia,... |
ORPHA:1328 |
Flynn-Aird Syndrome |
|
Cachexia |
ORPHA:2047 |
Polycythemia Vera |
|
Early satiety, Acute leukemia, Gastrointestinal hemorrhage, Polycythemia, Leukocytosis, Splenomeg... |
ORPHA:729 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyo... |
OMIM:115197 |
Pediatric-Onset Graves Disease |
|
Diarrhea, Keratitis, Failure to thrive, Nausea and vomiting, Splenomegaly, Episcleritis, Thromboc... |
ORPHA:525731 |
Orofaciodigital Syndrome Ix |
|
Abnormality of the dentition, Recurrent aspiration pneumonia, Median cleft upper lip, High palate... |
OMIM:258865 |
Granulomatous Disease, Chronic, X-Linked |
|
Discoid lupus rash, Recurrent pneumonia, Granuloma, Lymphadenitis, Eczematoid dermatitis, Ascites... |
OMIM:306400 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Pneumonia, Recurrent respiratory infections, Intraalveolar phospholipid accumulation, Lung abscess |
OMIM:610910 |
Hypercalcemia, Infantile, 1 |
|
Lethargy, Hypercalcemia |
OMIM:143880 |
Cardiomyopathy, Dilated, 1E |
|
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... |
OMIM:601154 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Pneumonia, Edema, Recurrent respiratory infections, Tented upper lip vermilion, Cryptorchidism, P... |
ORPHA:98905 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia, Glycosuria |
OMIM:308990 |
Dent Disease 1 |
|
Delayed epiphyseal ossification, Rickets, Glycosuria, Osteomalacia, Sparse bone trabeculae, Hypop... |
OMIM:300009 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Recurrent aspiration pneumonia, Dysphagia |
ORPHA:2590 |
Ciliary Dyskinesia, Primary, 14 |
|
Recurrent pneumonia, Otitis media, Chronic bronchitis, Chronic sinusitis, Recurrent respiratory i... |
OMIM:613807 |
Congenital Contractural Arachnodactyly |
|
Congenital contracture, Arthrogryposis multiplex congenita, Congenital kyphoscoliosis, Camptodact... |
ORPHA:115 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Osteoporosis, Osteopenia, Hypophosphatemia, Increased susceptibility to fractures |
OMIM:612287 |
Cartilage-Hair Hypoplasia |
|
Anal stenosis, Hypoplasia of the odontoid process, Lymphopenia, Lumbar hyperlordosis, Limited elb... |
OMIM:250250 |
Heterotaxy, Visceral, 1, X-Linked |
|
Posteriorly placed anus, Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ve... |
OMIM:306955 |
Rett Syndrome |
|
Cachexia, Gastroesophageal reflux, Constipation |
OMIM:312750 |
Pancreatoblastoma |
|
Vomiting, Diarrhea, Abnormal lymph node morphology, Pancreatic calcification, Abdominal pain, Wei... |
ORPHA:677 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia, Limitation of joint mobility, Arthritis |
ORPHA:2582 |
Glycogen Storage Disease Ib |
|
Inflammation of the large intestine, Gout, Splenomegaly, Pancreatitis, Neutropenia, Pancreatic fi... |
OMIM:232220 |
Paget Disease Of Bone 2, Early-Onset |
|
Fractures of the long bones, Sandwich appearance of vertebral bodies, Sclerosis of skull base, In... |
OMIM:602080 |
Xfe Progeroid Syndrome |
|
Hypoalbuminemia, Scoliosis, Hypertension |
OMIM:610965 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Vomiting, Diarrhea, Failure to thrive, Reye syndrome-like episodes, Hepatomegaly, Nausea, Feeding... |
ORPHA:927 |
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency |
|
Eczematoid dermatitis, Increased circulating IgE level, Osteomyelitis, Skin rash, Eosinophilia, C... |
ORPHA:2314 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis |
OMIM:617441 |
Portal Hypertension, Noncirrhotic, 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix |
OMIM:617068 |
Bile Acid Malabsorption, Primary, 1 |
|
Failure to thrive, Increased fecal bile acid, Steatorrhea, Chronic diarrhea, Fat malabsorption |
OMIM:613291 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Mental deterioration, Hypomethioninemia, Neutropenia, Ataxia, Delirium, Jaundice, Methylmalonic a... |
ORPHA:79282 |
Kaufman Oculocerebrofacial Syndrome |
|
Intestinal malrotation, Hypocholesterolemia, Ventricular septal defect, Atrial septal defect, Hig... |
OMIM:244450 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Abnormal intestine morphology, Villous atrophy, Malnutrition, Protracted diarrhea |
OMIM:251850 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Congestive heart failure, Hypomagnesemia, Hypocalcemic tetany, Hyperaldos... |
ORPHA:73224 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vii |
|
Diarrhea, Constipation |
OMIM:615548 |
Immunodeficiency 12 |
|
Recurrent aphthous stomatitis, Skin rash, Recurrent lower respiratory tract infections, Cheilitis... |
OMIM:615468 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Gastroesophageal reflux, Bundle branch block, Short attention span, First degree atrioventricular... |
ORPHA:589821 |
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis |
OMIM:266120 |
Netherton Syndrome |
|
Eczematoid dermatitis, Increased circulating IgE level, Malabsorption, Skin rash, Erythroderma, D... |
ORPHA:634 |
Medullary Thyroid Carcinoma |
|
Diarrhea, Abnormal liver parenchyma morphology, Weight loss, Lymphadenopathy, Dysphagia |
ORPHA:1332 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Recurrent pneumonia, Intralobular septal thickening, Spontaneous pneumothorax, Intraalveolar phos... |
OMIM:610913 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Diarrhea, Vomiting, Splenomegaly, Increased body weight, Hepatomegaly, Nausea, ... |
ORPHA:79240 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Duodenal atresia, Polysplenia, Intestinal malrotation, Situs inversus totalis, Partial atrioventr... |
OMIM:619608 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Osteoporosis, Osteopenia, Hypophosphatemia, Increased susceptibility to fractures |
OMIM:612286 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Hemolytic anemia |
OMIM:612300 |
Adiposis Dolorosa |
|
Diarrhea, Xerostomia, Hypothyroidism, Constipation, Arthritis, Recurrent skin infections |
ORPHA:36397 |
Porphyria, Congenital Erythropoietic |
|
Cholelithiasis, Conjunctivitis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Increased fecal cop... |
OMIM:263700 |
Gaucher Disease Type 3 |
|
Pancytopenia, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Thrombocytopenia,... |
ORPHA:77261 |
Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Bronchiectasis, Atelectasis, Recurrent bronchitis, Chronic sinusitis, Chronic rhinitis... |
OMIM:244400 |
Yellow Nail Syndrome |
|
Biliary tract neoplasm, Recurrent respiratory infections, Lymphedema, Sinusitis, Rhinitis, Pleuri... |
ORPHA:662 |
Postorgasmic Illness Syndrome |
|
Xerostomia, Hyperhidrosis |
ORPHA:279947 |
Lcat Deficiency |
|
Hemolytic anemia |
ORPHA:650 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Hemolytic anemia |
ORPHA:57 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Splenomegaly, Skin rash, Lymphadenopathy, Arthritis, Hepatomegaly, Abdominal pain, Juvenile rheum... |
ORPHA:85414 |
Congenital Syphilis |
|
Pneumonia, Diarrhea, Keratitis, Extramedullary hematopoiesis, Hepatosplenomegaly, Malabsorption, ... |
ORPHA:499009 |
Takayasu Arteritis |
|
Gastrointestinal infarctions, Increased inflammatory response, Inflammatory abnormality of the ey... |
ORPHA:3287 |
Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple... |
ORPHA:227982 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Abnormal circulating eicosanoid concentration, Decreased serum thromboxane B2, Decreased circulat... |
OMIM:618372 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia, Short neck, High palate, Flexion contracture |
ORPHA:98791 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Weight loss |
ORPHA:1979 |
Farber Lipogranulomatosis |
|
Failure to thrive, Splenomegaly, Lipogranulomatosis, Arthritis, Hepatomegaly |
OMIM:228000 |
Disabling Pansclerotic Morphea Of Childhood |
|
Elevated circulating C-reactive protein concentration, Lymphopenia, Joint contracture, Neutropenia |
OMIM:620443 |
Hereditary Fructose Intolerance |
|
Hypermagnesemia, Reactive hypoglycemia, Hyperuricemia, Lethargy, Hypophosphatemia, Hepatomegaly, ... |
ORPHA:469 |
Feingold Syndrome |
|
Annular pancreas, Abnormal form of the vertebral bodies, Abnormality of the spleen, Esophageal at... |
ORPHA:1305 |
Chronic Granulomatous Disease |
|
Pyloric stenosis, Eczematoid dermatitis, Malabsorption, Splenomegaly, Otitis media, Inflammatory ... |
ORPHA:379 |
Sarcoidosis |
|
Abnormal lymph node morphology, Weight loss, Erythema nodosum, Hepatomegaly, Tubulointerstitial n... |
ORPHA:797 |
Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Fasciitis, Myositis, Eosinophilia, Weight loss, Arthritis |
ORPHA:3165 |
Chronic Hiccup |
|
Weight loss, Malnutrition |
ORPHA:396 |
Erythrocytosis, Familial, 4 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:611783 |
Congenital Erythropoietic Porphyria |
|
Seborrhoeic blepharitis, Leukopenia, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Anisoc... |
ORPHA:79277 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Congenital shortened small intestine, Intestinal pseudo-obstruction, Intestinal malrotation, Thro... |
OMIM:300048 |
19Q13.11 Microdeletion Syndrome |
|
Cachexia, Failure to thrive, Feeding difficulties |
ORPHA:217346 |
Williams Syndrome |
|
Synostosis of joints, Type II diabetes mellitus, Mitral regurgitation, Overfriendliness, Ventricu... |
ORPHA:904 |
Okur-Chung Neurodevelopmental Syndrome |
|
Decreased circulating IgG level, Failure to thrive, Decreased circulating IgA level, Protruding t... |
OMIM:617062 |
Muckle-Wells Syndrome |
|
Conjunctivitis, Recurrent aphthous stomatitis, Episcleritis, Splenomegaly, Skin rash, Hepatomegal... |
ORPHA:575 |
Porphyria, Acute Intermittent |
|
Diarrhea, Vomiting, Paralytic ileus, Nausea, Constipation, Reduced erythrocyte porphobilinogen de... |
OMIM:176000 |
Gray Platelet Syndrome |
|
Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Splenomegaly, ... |
OMIM:139090 |
Lujo Hemorrhagic Fever |
|
Mental deterioration, Hypotension, Shock, Lymphopenia, Leukopenia, Stiff neck, Leukocytosis, Conf... |
ORPHA:319213 |
Ovalocytosis, Southeast Asian |
|
Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
Mucoepithelial Dysplasia, Hereditary |
|
Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Erythematous oral mucosa, Furr... |
OMIM:158310 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Cachexia |
ORPHA:1933 |
Psoriasis 14, Pustular |
|
Furrowed tongue, Leukocytosis, Oligoarthritis, Geographic tongue, Neutrophilia, Elevated circulat... |
OMIM:614204 |
Cystic Fibrosis |
|
Recurrent pneumonia, Diarrhea, Meconium ileus, Exocrine pancreatic insufficiency, Ileus, Rectal p... |
OMIM:219700 |
Johanson-Blizzard Syndrome |
|
Intrahepatic cholestasis, Colonic diverticula, Dilated cardiomyopathy, Hepatic fibrosis, Anterior... |
OMIM:243800 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Gastroesophageal reflux, Keratitis, Vomiting, Aspiration pneumonia, Nasogastric tube feeding, Abn... |
ORPHA:1018 |
Atrial Septal Defect, Sinus Venosus Type |
|
Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ... |
ORPHA:99105 |
Portal Hypertension, Noncirrhotic, 2 |
|
Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly, Thrombocyt... |
OMIM:619463 |
Erythrocytosis, Familial, 5 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617907 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Rickets, Extramedullary hematopoiesis, Cholestasis, Hyperbilirubinemia, Hep... |
ORPHA:79303 |
Complete Atrioventricular Septal Defect |
|
Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ... |
ORPHA:1329 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Periportal fibrosis, Gastroesophageal reflux, Hepatocellular necrosis, Hepatic steatosis, Cardiom... |
OMIM:201475 |
Erythrocytosis, Familial, 3 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass |
OMIM:609820 |
Dopamine Beta-Hydroxylase Deficiency |
|
Insulin resistance, Orthostatic syncope, Hypoglycemia, Abnormal EKG, Elevated circulating creatin... |
ORPHA:230 |
Polyendocrine-Polyneuropathy Syndrome |
|
Elevated hemoglobin A1c, Type I diabetes mellitus, Hypoglycemia, Ataxia |
OMIM:616113 |
Thyrotoxic Periodic Paralysis |
|
Postprandial hyperglycemia, Episodic hypokalemia, Second degree atrioventricular block, Hypomagne... |
ORPHA:79102 |
Uremic Pruritus |
|
Renal hypophosphatemia, Hypermagnesemia, Depression, Increased blood urea nitrogen, Hypercalcemia |
ORPHA:94059 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Diarrhea, Abdominal distention, Ascites, Anorexia, Chronic noninfectious lymphadenopathy, Hepatic... |
ORPHA:100085 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Diarrhea, Failure to thrive, Exocrine pancreatic insufficiency, Hyperechogenic... |
OMIM:617941 |
Yellow Fever |
|
Diarrhea, Vomiting, Pancreatic hyperplasia, Leukocytosis, Skin rash, Nausea, Abdominal pain, Hema... |
ORPHA:99829 |
Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Hypoglycemia, Hyperglycemia, Hyperglycinemia, Agitation, Partial atrioventricular canal defect, I... |
OMIM:620423 |
Developmental And Epileptic Encephalopathy 50 |
|
Diarrhea, Failure to thrive, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Anemia, Dysphagia |
OMIM:616457 |
Dpm1-Cdg |
|
High, narrow palate, Hepatic fibrosis, Diarrhea, Failure to thrive, Hepatosplenomegaly, Hepatic s... |
ORPHA:79322 |
Cryptogenic Organizing Pneumonia |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Anorexia, Neutrophilia |
ORPHA:1302 |
Mucopolysaccharidosis, Type Iiia |
|
Hepatomegaly, Diarrhea, Splenomegaly |
OMIM:252900 |
Ciliary Dyskinesia, Primary, 30 |
|
Recurrent otitis media, Chronic sinusitis, Chronic bronchitis, Recurrent respiratory infections, ... |
OMIM:616037 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Cachexia |
ORPHA:2774 |
Acute Radiation Syndrome |
|
Diarrhea, Vomiting, Inflammatory abnormality of the skin, Lymphopenia, Interstitial pneumonitis, ... |
ORPHA:454831 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Cholestatic liver disease, Hypoglycemia, Polysplenia, Exocrine pancreatic insuf... |
OMIM:619418 |
Amyotrophic Lateral Sclerosis |
|
Tongue atrophy, Xerostomia, Nausea and vomiting, Cachexia, Dysphagia |
ORPHA:803 |
Roifman-Chitayat Syndrome |
|
Pneumonia, Thin lower lip vermilion, Arthritis |
OMIM:613328 |
Systemic Sclerosis |
|
Intestinal bleeding, Telangiectasia, Dysphagia, Abnormal large intestine morphology, Gastroesopha... |
ORPHA:90291 |
Atrial Fibrillation, Familial, 18 |
|
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... |
OMIM:617280 |
Glycogen Storage Disease Ic |
|
Inflammation of the large intestine, Recurrent upper respiratory tract infections, Gout, Chronic ... |
OMIM:232240 |
Prune Belly Syndrome |
|
Anal atresia, Oligohydramnios, Xerostomia, Cryptorchidism |
OMIM:100100 |
Diffuse Cutaneous Systemic Sclerosis |
|
Carious teeth, Xerostomia, Gastroesophageal reflux, Malabsorption, Nausea and vomiting, Arthritis... |
ORPHA:220393 |
Monosomy 13Q34 |
|
Insulin resistance, Hematochezia, Epistaxis, Hepatic steatosis, Common atrium, Hypercalcemia, Pul... |
ORPHA:96168 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Hemophagocytosis, Pancytopenia, Splenomegaly, Anemia, Panniculitis |
OMIM:618398 |
Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro... |
OMIM:601419 |
Ciliary Dyskinesia, Primary, 22 |
|
Recurrent respiratory infections, Recurrent otitis media, Chronic bronchitis, Recurrent sinusitis... |
OMIM:615444 |
Fusariosis |
|
Pneumonia, Keratitis, Fasciitis, Osteomyelitis, Pleural effusion, Maculopapular exanthema, Myosit... |
ORPHA:228119 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Chronic decreased circulating IgG1, Chronic diarrhea |
OMIM:300953 |
Cranioectodermal Dysplasia 1 |
|
High, narrow palate, Malformation of the hepatic ductal plate, Hepatic fibrosis, Hypocalcemia, He... |
OMIM:218330 |
Fanconi Anemia, Complementation Group W |
|
Duodenal atresia, Polysplenia |
OMIM:617784 |
Botulism |
|
Diarrhea, Xerostomia, Nausea and vomiting, Constipation, Abdominal pain, Dysphagia |
ORPHA:1267 |
Urban-Rogers-Meyer Syndrome |
|
Increased circulating IgE level, Obesity |
ORPHA:3409 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Muscular ventricular septal defect, Butterfly vertebrae, Submucous cleft hard palate, Attention d... |
OMIM:619227 |
Seckel Syndrome 10 |
|
Insulin resistance, Ventricular hypertrophy, Acute pancreatitis, Glycosuria, Congestive heart fai... |
OMIM:617253 |
Glycogen Storage Disease Ixc |
|
Hypoglycemia, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Fasting hypoglycemia, ... |
OMIM:613027 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Cachexia, Dysphagia, Gastrostomy tube feeding in infancy |
ORPHA:300605 |
Holt-Oram Syndrome |
|
Hypoplastic left heart, Atrioventricular block, Paroxysmal atrial fibrillation, Atrioventricular ... |
ORPHA:392 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Diarrhea, Anorexia, Leukopenia, Leukocytosis, Lipid accumulation in hepatocytes, Hepatomegaly, We... |
ORPHA:20 |
Complement Component 5 Deficiency |
|
Intractable diarrhea, Reduced circulating CH50 activity, Decreased circulating complement C5 conc... |
OMIM:609536 |
Jacobsen Syndrome |
|
Aortic valve stenosis, Bone marrow hypocellularity, Hypoplastic left heart, Annular pancreas, Abn... |
ORPHA:2308 |
Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Pulmonary edema, Pancreatitis |
ORPHA:70578 |
Chromosome 19P13.13 Deletion Syndrome |
|
Vomiting, Diarrhea, Constipation, Abdominal pain, Feeding difficulties |
OMIM:613638 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Gastroesophageal reflux, Persistence of hemoglobin F, Ventricular septal defect, Hiatus hernia, A... |
OMIM:619769 |
Multiple Endocrine Neoplasia Type 1 |
|
Increased circulating cortisol level, Shortened QT interval, Anorexia, Duodenal ulcer, Thymoma, G... |
ORPHA:652 |
Ziegler-Huang Syndrome |
|
Bone marrow hypocellularity, Neutropenia, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:620501 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Aplasia of the thymus, Duodenal atresia, Vertebral segmentation defect |
ORPHA:3004 |
Splenoportal Vascular Anomalies |
|
Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system |
OMIM:271500 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Lymphopenia, Irritability, Kyphoscoliosis, Aggressive behavior, Hyperactivity, Scoliosis, Motor s... |
ORPHA:391307 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hypertrophic cardiomyopathy, Heart murmur, Shortened PR interval, Elevated circulating creatine k... |
ORPHA:308552 |
Sneddon Syndrome |
|
Mental deterioration, Lymphopenia, Ischemic stroke, Bicuspid aortic valve, Cerebral hemorrhage, H... |
OMIM:182410 |
Erythrocytosis, Familial, 2 |
|
Hypotension, Increased hematocrit, Increased red blood cell mass, Increased circulating hemoglobi... |
OMIM:263400 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Diarrhea, Abdominal pain, Vomiting, Pancreatitis |
OMIM:620137 |
Pierson Syndrome |
|
Retinal hemorrhage, Hypoproteinemia, Hypertension |
OMIM:609049 |
Bronchial Neuroendocrine Tumor |
|
Pneumonia, Hepatic failure, Increased circulating cortisol level, Protracted diarrhea, Bowel urge... |
ORPHA:97287 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hypoalbuminemia, Hypertension, Hyperlipidemia, Pulmonary embolism |
ORPHA:567546 |
Esophageal Atresia |
|
Abnormal vertebral morphology, Barrett esophagus, Gastrointestinal carcinoma, Gastroesophageal re... |
ORPHA:1199 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis |
OMIM:620197 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Weight loss, Bronchiectasis |
ORPHA:1164 |
Hyaline Fibromatosis Syndrome |
|
Diarrhea, Failure to thrive |
OMIM:228600 |
Osteopetrosis, Autosomal Recessive 4 |
|
Splenomegaly, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Anemia |
OMIM:611490 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Diarrhea, Gastroesophageal reflux, Failure to thrive, Constipation, Dysphagia, Feeding difficulties |
ORPHA:35708 |
Treacher Collins Syndrome 1 |
|
Cleft soft palate, Narrow mouth, Cryptorchidism, Wide mouth, Abnormal parotid gland morphology, C... |
OMIM:154500 |
Specific Granule Deficiency 1 |
|
Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,... |
OMIM:245480 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Elevated systolic blood pressure, Decreased circulating renin level, Hyponatremia, Irritability, ... |
OMIM:300539 |
Glucose-Galactose Malabsorption |
|
Diarrhea, Vomiting, Failure to thrive, Malnutrition, Hyperactive bowel sounds, Osmotic diarrhea, ... |
ORPHA:35710 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Intestinal malrotation, Irritability, Joint hypermobility, Ventricular septal defect, Gastrointes... |
OMIM:617798 |
Mucopolysaccharidosis, Type Iiic |
|
Hepatomegaly, Diarrhea, Dysphagia, Splenomegaly |
OMIM:252930 |
Malonyl-Coa Decarboxylase Deficiency |
|
Vomiting, Diarrhea, Chronic constipation, Constipation, Abdominal pain |
OMIM:248360 |
Holocarboxylase Synthetase Deficiency |
|
Perioral eczema, Eczematoid dermatitis, Nausea and vomiting, Keratoconjunctivitis, Weight loss, T... |
ORPHA:79242 |
Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Diarrhea, Conjunctivitis, Acute hepatic failure, Nausea and vomiting... |
ORPHA:36426 |
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
|
Atopic dermatitis, Vomiting, Diarrhea, Thrombocytopenia, Hypochromic microcytic anemia |
ORPHA:3240 |
Diarrhea 11, Malabsorptive, Congenital |
|
Villous atrophy, Diarrhea |
OMIM:618662 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Pancytopenia, Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Jaundice, Dysphagia, Re... |
ORPHA:447 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Increased serum bile... |
ORPHA:731 |
Maculopapular Cutaneous Mastocytosis |
|
Abdominal pain, Vomiting, Diarrhea, Nausea |
ORPHA:79457 |
Slc35A1-Cdg |
|
Pneumonia, Pulmonary hemorrhage |
ORPHA:238459 |
Osteopetrosis, Autosomal Dominant 3 |
|
Anemia, Hepatomegaly, Splenomegaly |
OMIM:618107 |
Infantile Nephropathic Cystinosis |
|
Polydipsia, Glycosuria, Rickets, Hypokalemia, Hypophosphatemia, Cognitive impairment, Abnormal bl... |
ORPHA:411629 |
Neuroblastoma |
|
Weight loss, Lymphadenopathy, Thrombocytopenia, Abdominal distention, Anemia, Chronic diarrhea, A... |
ORPHA:635 |
Craniofacioskeletal Syndrome |
|
Absent gallbladder, Hypocalcemia, Ventricular septal defect, Atrial septal defect, Cleft palate |
OMIM:300712 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Splenomegaly, Autoimmune hemolytic anemia, Myositis, Lymphadenopathy, Hepatomegaly, Panniculitis |
OMIM:619183 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Self-injurious behavior, Gastroesophageal reflux, Depression, Volvulus, Joint stiffness, Abnormal... |
ORPHA:847 |
Iatrogenic Botulism |
|
Constipation, Xerostomia, Dysphagia |
ORPHA:254509 |
Erythrocytosis, Familial, 7 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617981 |
Erythrocytosis, Familial, 6 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617980 |
Biotinidase Deficiency |
|
Vomiting, Diarrhea, Splenomegaly, Skin rash, Feeding difficulties in infancy, Seborrheic dermatit... |
OMIM:253260 |
Distal Renal Tubular Acidosis |
|
Vomiting, Diarrhea, Failure to thrive, Constipation, Hemolytic anemia, Poor appetite |
ORPHA:18 |
Inhalational Botulism |
|
Nausea and vomiting, Diarrhea, Xerostomia, Constipation |
ORPHA:254504 |
Idiopathic Aplastic Anemia |
|
Bone marrow hypocellularity, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia |
ORPHA:88 |
Histiocytoid Cardiomyopathy |
|
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Hypoglycemia, Congestive ... |
ORPHA:137675 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Anemia, Hepatomegaly, Interstitial pneumonitis, Splenomegaly |
OMIM:620296 |
Infant Botulism |
|
Xerostomia, Keratoconjunctivitis sicca, Constipation, Anorexia, Abdominal pain, Dysphagia, Chroni... |
ORPHA:178478 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... |
OMIM:600858 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
High, narrow palate, Osteopenia, Gastroesophageal reflux, Restrictive cardiomyopathy, Abnormal he... |
ORPHA:369837 |
Trichothiodystrophy 1, Photosensitive |
|
Decreased circulating IgG level, Malabsorption, Intestinal obstruction, Keratoconjunctivitis sicc... |
OMIM:601675 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Microangiopathic hemolytic anemia, Reticulocytosis, Schistocytosis, Thrombocytopenia, Prolonged n... |
OMIM:274150 |
Nephronophthisis-Like Nephropathy 2 |
|
Recurrent respiratory infections, Bronchiectasis |
OMIM:619468 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Congenital shortened small intestine, Ventricular septal defect, Bicuspid aortic valve, Atrial se... |
OMIM:265380 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Renal hypophosphatemia, Abnormal trabecular bone morphology, Pseudo-fractures, Osteomalacia, Rick... |
ORPHA:289176 |
Foodborne Botulism |
|
Diarrhea, Xerostomia, Nausea and vomiting, Constipation, Abdominal pain, Dysphagia |
ORPHA:228371 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Tyrosinemia, Type I |
|
Hypermethioninemia, Elevated circulating alpha-fetoprotein concentration, Gastrointestinal hemorr... |
OMIM:276700 |
Japanese Encephalitis |
|
Diarrhea, Vomiting, Anorexia, Increased circulating antibody level, Infectious encephalitis, Neut... |
ORPHA:79139 |
X-Linked Dystonia-Parkinsonism |
|
Protruding tongue, Impaired oropharyngeal swallow response, Aspiration pneumonia |
ORPHA:53351 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Abnormal heart morphology, Hypocalcemia, Hypocalcemic seizures, Diabetes mellitus, Cleft palate |
ORPHA:2237 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Hypercalcemia, Elevated creatine kinase after exercise |
ORPHA:284426 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level |
OMIM:114065 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Biventricular... |
OMIM:261740 |
Enteric Anendocrinosis |
|
Cholestatic liver disease, Vomiting, Diarrhea, Malabsorption, Portal hypertension |
ORPHA:83620 |
Long Qt Syndrome 10 |
|
Atrioventricular block, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Sudden card... |
OMIM:611819 |
Acute Interstitial Pneumonia |
|
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Nodular p... |
ORPHA:79126 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:612924 |
Carnitine Deficiency, Systemic Primary |
|
Diarrhea, Vomiting, Failure to thrive, Decreased carnitine level in liver, Microvesicular hepatic... |
OMIM:212140 |
Viss Syndrome |
|
Increased circulating IgE level, Cleft soft palate, Chronic constipation, Abdominal distention, C... |
OMIM:619472 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Pneumonia, Salmonella osteomyelitis, Lymphadenitis |
ORPHA:319552 |
Snakebite Envenomation |
|
Neuromuscular dysphagia, Vomiting, Diarrhea, Pseudobulbar paralysis, Thrombocytopenia |
ORPHA:449285 |
Bone Marrow Failure Syndrome 5 |
|
Erythroid hypoplasia, Pure red cell aplasia, Anemia, Decreased circulating antibody level |
OMIM:618165 |
Listeriosis |
|
Diarrhea, Arteritis, Abscess, Pustule, Abdominal pain, Jaundice, Endocarditis, Osteomyelitis, Per... |
ORPHA:533 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Elevated circulating acylcarnitine concentration, Hypoglycemia, Oral-pharyngeal dysphagia, Torsad... |
OMIM:616878 |
Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
Hereditary Hyperekplexia |
|
Hiatus hernia, Esophagitis, Gastroesophageal reflux |
ORPHA:3197 |
Scrub Typhus |
|
Nausea and vomiting, Splenomegaly, Skin rash, Infectious encephalitis, Lymphadenopathy, Myocardit... |
ORPHA:83317 |
Mannosidosis, Alpha B, Lysosomal |
|
Macroglossia, Splenomegaly, Hepatomegaly, Vacuolated lymphocytes, Decreased circulating antibody ... |
OMIM:248500 |
Acitretin/Etretinate Embryopathy |
|
Third degree atrioventricular block, Atrioventricular canal defect, Median cleft palate, Conotrun... |
ORPHA:40366 |
Combined Malonic And Methylmalonic Acidemia |
|
Intermittent diarrhea, Vomiting, Failure to thrive, Nasogastric tube feeding |
ORPHA:289504 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Osteopenia, Type I diabetes mellitus, Lymphopenia, Portal hypertension, Thrombocytopenia, Anemia |
OMIM:620365 |
Fructose Intolerance, Hereditary |
|
Gastrointestinal hemorrhage, Glycosuria, Hypoglycemia, Hyperbilirubinemia, Hepatic steatosis, Hyp... |
OMIM:229600 |
Hereditary Bullous Dystrophy, Macular Type |
|
Pneumonia, Decreased testicular size, Cryptorchidism |
ORPHA:1867 |
Lynch Syndrome |
|
Gastrointestinal hemorrhage, Pituitary adenoma, Pancreatic adenocarcinoma, Hepatocellular carcino... |
ORPHA:144 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Villous atrophy, Portal hypertension, Splenome... |
ORPHA:567983 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur... |
ORPHA:508533 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Peptic ulcer, Polydipsia, Shortened QT interval, Pancreatic adenocarcinoma, Hypercalcemia, Hypoph... |
ORPHA:99880 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Abnormal circulating interleukin concentration, Diarrhea, Vomiting, Increased circulating interfe... |
ORPHA:542323 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis, Feeding difficulties, Bloody diarrhea |
OMIM:615119 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Tube feeding, Dysphagia, Hyperhidrosis, Aspiration pneumonia |
ORPHA:79264 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Hip osteoarthritis, Enthesitis, Hepatosplenomegaly, Knee osteoarthritis, Synovitis, Weight loss, ... |
ORPHA:85408 |
Grfoma |
|
Diarrhea, Nausea and vomiting, Intestinal obstruction, Weight loss, Anorexia, Hepatomegaly, Intra... |
ORPHA:97261 |
Cardiomyopathy, Dilated, 1G |
|
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula... |
OMIM:604145 |
Ppoma |
|
Diarrhea, Nausea and vomiting, Intestinal obstruction, Weight loss, Anorexia, Hepatomegaly, Intra... |
ORPHA:97278 |
Gaucher Disease |
|
Splenic infarction, Cholelithiasis, Hepatic failure, Hepatitis, Osteomyelitis, Pancytopenia, Leuk... |
ORPHA:355 |
Parathyroid Carcinoma |
|
Peptic ulcer, Polydipsia, Shortened QT interval, Pancreatic adenocarcinoma, Hypercalcemia, Hypoph... |
ORPHA:143 |
Darier-White Disease |
|
Enlargement of parotid gland |
OMIM:124200 |
Hepatoerythropoietic Porphyria |
|
Seborrhoeic blepharitis, Erythroid hyperplasia, Splenomegaly, Scleritis, Keratoconjunctivitis, In... |
ORPHA:95159 |
Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
Multiple Endocrine Neoplasia, Type I |
|
Peptic ulcer, Diarrhea, Pituitary adenoma, Increased circulating cortisol level, Pituitary prolac... |
OMIM:131100 |
Say-Barber-Miller Syndrome |
|
Decreased circulating IgG level, Eczematoid dermatitis, Panniculitis, Transient hypogammaglobulin... |
ORPHA:3132 |
Ciliary Dyskinesia, Primary, 2 |
|
Recurrent respiratory infections, Bronchiectasis, Otitis media, Sinusitis |
OMIM:606763 |
Felty Syndrome |
|
Rheumatoid arthritis, Splenomegaly, Neutropenia |
OMIM:134750 |
Fumarase Deficiency |
|
Intrahepatic cholestasis, Hepatic failure, Polycythemia, Failure to thrive, Ascites, High palate,... |
OMIM:606812 |
Mucopolysaccharidosis, Type Ii |
|
Recurrent pneumonia, Diarrhea, Intestinal pseudo-obstruction, Recurrent otitis media, Hepatosplen... |
OMIM:309900 |
Gaucher Disease, Type Ii |
|
Gastroesophageal reflux, Failure to thrive, Splenomegaly, Hepatomegaly, Thrombocytopenia, Protube... |
OMIM:230900 |
Congenital Disorder Of Glycosylation, Type Id |
|
Bifid uvula, Vomiting, Diarrhea, Failure to thrive, Villous atrophy, High palate |
OMIM:601110 |
Peritoneal Cystic Mesothelioma |
|
Peritonitis, Constipation, Weight loss, Abdominal distention, Abdominal pain |
ORPHA:168816 |
Glucose/Galactose Malabsorption |
|
Failure to thrive, Hyperactive bowel sounds, Malabsorption, Abdominal distention, Chronic diarrhea |
OMIM:606824 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Spontaneous hemolytic crises, Hepatosplenomegaly, Stomatocytosis, Jaundice |
ORPHA:168577 |
Cocaine Intoxication |
|
Diffuse alveolar hemorrhage, Vomiting, Gastrointestinal infarctions, Pulmonary edema, Nausea, Abd... |
ORPHA:90068 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Long philtrum, Aspiration pneumonia, Chronic constipation, Smooth philtrum, Feeding difficulties |
OMIM:616430 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia, Rickets |
OMIM:612089 |
X-Linked Hypophosphatemia |
|
Limitation of joint mobility, Rickets, Sacroiliac joint synovitis, Hypophosphatemia, Tooth absces... |
ORPHA:89936 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Anisocytos... |
OMIM:301310 |
Alpha-Mannosidosis, Adult Form |
|
Pneumonia, Macroglossia, Recurrent gastroenteritis |
ORPHA:309288 |
Opsismodysplasia |
|
Hypoplasia of the odontoid process, Hypoplastic vertebral bodies, Short neck, Hypophosphatemia, S... |
OMIM:258480 |
Brugada Syndrome |
|
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... |
ORPHA:130 |
Imerslund-Grasbeck Syndrome 2 |
|
Anemia, Diarrhea, Megaloblastic anemia |
OMIM:618882 |
Pmm2-Cdg |
|
Insulin resistance, Hypoalbuminemia, Osteopenia, Hepatic fibrosis, Platyspondyly, Hypertrophic ca... |
ORPHA:79318 |
Primary Ciliary Dyskinesia |
|
Atelectasis, Intestinal malrotation, Recurrent otitis media, Pulmonary situs ambiguus, Respirator... |
ORPHA:244 |
Congenital Pulmonary Lymphangiectasia |
|
Ascites, Hepatomegaly, Gastroesophageal reflux, Splenomegaly |
ORPHA:2414 |
Rapadilino Syndrome |
|
High, narrow palate, Diarrhea, Feeding difficulties, High palate, Cleft palate |
OMIM:266280 |
Malignant Peritoneal Mesothelioma |
|
Ascites, Ileus, Peritonitis, Weight loss, Abdominal distention, Abdominal pain |
ORPHA:168811 |
Lacrimoauriculodentodigital Syndrome 3 |
|
Carious teeth, Xerostomia, Widely spaced teeth, Enamel hypoplasia, Feeding difficulties |
OMIM:620193 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic valve stenosis, Aortic regurgitation, Ankle flexion contracture, Gastroesophageal reflux, ... |
ORPHA:464311 |
Scleromyxedema |
|
Gastroesophageal reflux, Paraproteinemia, Abnormality of the gastrointestinal tract, Dysphagia, H... |
ORPHA:167635 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca... |
OMIM:617047 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
High, narrow palate, Gastroesophageal reflux, Dental crowding, Downturned corners of mouth, Vomit... |
ORPHA:96182 |
Fabry Disease |
|
Diarrhea, Vomiting, Tenesmus, Nausea, Left ventricular hypertrophy, Anemia, Abdominal pain |
OMIM:301500 |
Carcinoid Syndrome |
|
Lack of bowel sounds, Protracted diarrhea, Hepatic necrosis, Nausea and vomiting, Chronic noninfe... |
ORPHA:100093 |
Dent Disease |
|
Renal hypophosphatemia, Delayed epiphyseal ossification, Rickets, Glycosuria, Osteomalacia, Spars... |
ORPHA:1652 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Cholelithiasis, Diarrhea, Chronic mucocutaneous candidiasis, Malabsorption, K... |
OMIM:240300 |
Long Qt Syndrome 16 |
|
Second degree atrioventricular block, T-wave alternans, Perimembranous ventricular septal defect,... |
OMIM:618782 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Recurrent pneumonia, Aspiration pneumonia, Tented upper lip vermilion, Feeding difficulties in in... |
ORPHA:314655 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Platyspondyly, Rheumatoid arthritis, Lymphopenia, Sclerosis of skull base, Lumbar hyperlordosis, ... |
OMIM:607944 |
Severe Acute Respiratory Syndrome |
|
Acute infectious pneumonia |
ORPHA:140896 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Failure to thrive, Recurrent infection of the gastrointestinal tract, Splenomegaly, Defective pro... |
OMIM:612132 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Peritoneal abscess, Abdominal distention, Hepatitis, Jejunoileal ulceration, Intestinal malrotati... |
ORPHA:436252 |
Williams-Beuren Syndrome |
|
Mitral regurgitation, Obsessive-compulsive trait, Ventricular septal defect, Mitral valve prolaps... |
OMIM:194050 |
Nephroblastoma |
|
Abdominal pain, Neoplasm of the liver, Weight loss, Lymphadenopathy |
ORPHA:654 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Cor triatriatum, Secundum atrial septal defect, Lymphopenia, Hepatosplenomegaly, Leukopenia, Sple... |
OMIM:612541 |
Farber Disease |
|
Hepatic fibrosis, Hepatic failure, Failure to thrive, Ascites, Hepatosplenomegaly, Lymphadenopath... |
ORPHA:333 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Pancreatic adenocarcinoma, Recurrent pancreatitis, Hypercalcemia |
OMIM:145001 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Gastroesophageal reflux, HbH hemoglobin, Protruding tongue, Ventricular septal defect, Kyphoscoli... |
OMIM:301040 |
Neuroendocrine Neoplasm Of Appendix |
|
Adenocarcinoma of the colon, Intestinal carcinoid, Abdominal colic, Protracted diarrhea, Hypoacti... |
ORPHA:100079 |
Heterotaxy, Visceral, 5, Autosomal |
|
Total anomalous pulmonary venous return, Absence of the sacrum, Abdominal situs inversus, Atrial ... |
OMIM:270100 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Carious teeth, Xerostomia, Lacrimal gland hypoplasia, Delayed eruption of primary teeth, Microdon... |
OMIM:149730 |
Spontaneous Periodic Hypothermia |
|
Diarrhea, Nausea and vomiting, Skin rash |
ORPHA:29822 |
Middle Ear Neuroendocrine Tumor |
|
Chronic diarrhea, Chronic noninfectious lymphadenopathy |
ORPHA:100084 |
Raine Syndrome |
|
Protruding tongue, Short neck, Hypophosphatemia, Subperiosteal bone formation, Increased bone min... |
OMIM:259775 |
Lambert-Eaton Myasthenic Syndrome |
|
Small cell lung carcinoma, Xerostomia, Keratoconjunctivitis sicca, Hypohidrosis, Constipation |
ORPHA:43393 |
Angioedema, Hereditary, 1 |
|
Diarrhea, Vomiting, Decreased circulating C1-esterase inhibitor concentration, Intestinal edema, ... |
OMIM:106100 |
Cutaneous Mastocytoma |
|
Vomiting, Diarrhea, Nausea, Abdominal pain, Maculopapular exanthema |
ORPHA:79455 |
Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Failure to thrive, Recurrent otitis media, Chronic constipation, Chronic diarrhea, Feeding diffic... |
OMIM:617788 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Gastroesophageal reflux, Malabsorption, Nausea and vomiting, Skin rash, Intestinal obstruction, I... |
ORPHA:183 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr... |
OMIM:171420 |
X-Linked Intellectual Disability, Cabezas Type |
|
Cachexia, Obesity, High palate |
ORPHA:85293 |
Fetal Cytomegalovirus Syndrome |
|
Hepatitis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Jaundice |
ORPHA:294 |
Congenital Alveolar Capillary Dysplasia |
|
Aortic valve stenosis, Hypoplastic left heart, Abnormal vertebral morphology, Annular pancreas, V... |
ORPHA:210122 |
Peripheral Primitive Neuroectodermal Tumor |
|
Pelvic mass, Ascites, Anorexia, Nausea and vomiting, Episodic abdominal pain, Weight loss, Pancre... |
ORPHA:370348 |
Encephalitis Lethargica |
|
Bowel incontinence, Increased circulating antibody level |
ORPHA:83600 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Abnormal large intestine morphology, Intestinal polyposis, Hashimoto thyroiditis, Cachexia, Narro... |
ORPHA:109 |
Duodenal Ulcer Due To Antral G-Cell Hyperfunction |
|
Duodenal ulcer, Hyperpepsinogenemia I |
OMIM:126840 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatic failure, Bronchitis, Hepatitis, Emphysema, Panniculitis, Bronchiectasis, Hepatocellular c... |
ORPHA:60 |
Klatskin Tumor |
|
Abdominal pain, Weight loss, Cholangiocarcinoma, Lymphadenopathy, Hepatomegaly, Jaundice, Extrahe... |
ORPHA:99978 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Crazy paving pattern, Acute infectious pneumonia |
ORPHA:264675 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... |
ORPHA:216694 |
Feingold Syndrome 1 |
|
Accessory spleen, Tricuspid stenosis, Annular pancreas, Polysplenia, Jejunal atresia, Ventricular... |
OMIM:164280 |
Zollinger-Ellison Syndrome |
|
Hematochezia, Gastrointestinal hemorrhage, Peptic ulcer, Increased circulating cortisol level, Es... |
ORPHA:913 |
Diamond-Blackfan Anemia 20 |
|
Erythroid hypoplasia, Anemia |
OMIM:618313 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Inability to walk,... |
OMIM:620066 |
Myelofibrosis |
|
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di... |
OMIM:254450 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Atopic dermatitis, Cholelithiasis, Vomiting, Recurrent tonsillitis, Failure to thrive in infancy,... |
ORPHA:171876 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Increased circulating cortisol level, Abnormal T-wave, Palpitations, Decreased circula... |
ORPHA:231625 |
Gallbladder Neuroendocrine Tumor |
|
Biliary tract neoplasm, Ascites, Anorexia, Chronic noninfectious lymphadenopathy, Cholecystitis, ... |
ORPHA:100086 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Bifid uvula, Recurrent pneumonia, Recurrent aspiration pneumonia, Bilateral cryptorchidism, Chron... |
OMIM:300472 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Short neck, Atrial septal defect, Leukemia, Cleft palate, Duodenal atresia, Pulmonic stenosis |
OMIM:257300 |
Anaplastic Thyroid Carcinoma |
|
Tracheoesophageal fistula, Weight loss, Dysphagia, Lymphadenopathy |
ORPHA:142 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Ataxia, Shortened PR interval, Ventricular septal defect, Ventricular septal hypertrophy, Cogniti... |
OMIM:614947 |
Distal Deletion 12Q |
|
High, narrow palate, Microglossia, Congenital hypertrophy of left ventricle, Maturity-onset diabe... |
ORPHA:96149 |
Visceral Myopathy 1 |
|
Microcolon, Diarrhea, Vomiting, Intestinal pseudo-obstruction, Malnutrition, Gastroparesis, Megad... |
OMIM:155310 |
Apparent Mineralocorticoid Excess |
|
Polydipsia, Abnormality of circulating cortisol level, Decreased circulating renin level, Hypokal... |
ORPHA:320 |
Vascular Hyalinosis |
|
Hematochezia, Diarrhea, Protein-losing enteropathy, Malabsorption |
OMIM:277175 |
Fg Syndrome Type 1 |
|
Broad-based gait, Abnormal large intestine morphology, Gastroesophageal reflux, Limited elbow ext... |
ORPHA:93932 |
Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic valve stenosis, Aortic regurgitation, Gastroesophageal reflux, Kyphosis, Multiple joint co... |
ORPHA:464306 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Nausea, Diarrhea, Dysphagia, Poor appetite |
ORPHA:352447 |
Multiple Endocrine Neoplasia Type 2 |
|
Hypertensive crisis, Abnormal tongue morphology, Cervical lymphadenopathy, Ganglioneuromatosis, P... |
ORPHA:653 |
Reynolds Syndrome |
|
Gastrointestinal hemorrhage, Biliary cirrhosis, Palmar telangiectasia, Cholestasis, Lymphopenia, ... |
OMIM:613471 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Portal hypertension, Splenomegaly, Cardiomegaly, Chronic hepatic failure, Cirrhosis, Weight loss,... |
ORPHA:465508 |
Spinal Cord Injury |
|
Paralytic ileus, Vertebral compression fracture, Hypercalcemia |
ORPHA:90058 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Spherocytosis, Splenomegaly |
ORPHA:66518 |
Fryns Syndrome |
|
Joint contracture of the hand, Meckel diverticulum, Polysplenia, Intestinal malrotation, Ventricu... |
OMIM:229850 |
Nocardiosis |
|
Pneumonia, Vomiting, Lymphadenitis, Cutaneous abscess, Keratitis, Emphysema, Osteomyelitis, Pleur... |
ORPHA:31204 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... |
ORPHA:276621 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Hepatomegaly, Vomiting, Diarrhea, Failure to thrive |
OMIM:560000 |
Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Conjunctivitis, Acute hepatic failure, Malabsorption, Nausea and vom... |
ORPHA:537 |
Mosaic Variegated Aneuploidy Syndrome |
|
Aortic regurgitation, Osteolysis, Stomach cancer, Intestinal polyposis, Subvalvular aortic stenos... |
ORPHA:1052 |
Hyperprolinemia Type 2 |
|
Abdominal pain, Diarrhea, Dysphagia, Feeding difficulties |
ORPHA:79101 |
Localized Scleroderma |
|
Abnormality of the dentition, Gastroesophageal reflux, Dental malocclusion, Fasciitis, Abnormal u... |
ORPHA:90289 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Platyspondyly, Thoracolumbar kyphosis, Lymphopenia, Hepatic cysts, Kyphoscoliosis, Eosinophilia, ... |
OMIM:617425 |
Meconium Aspiration Syndrome |
|
Pneumothorax, Atelectasis, Aspiration pneumonia |
ORPHA:70588 |
Peutz-Jeghers Syndrome |
|
Intestinal bleeding, Gastrointestinal carcinoma, Bile duct polyp, Bloody diarrhea, Rectal prolaps... |
OMIM:175200 |
Myotonic Dystrophy 1 |
|
Cholelithiasis, Atrial flutter, Obsessive-compulsive trait, First degree atrioventricular block, ... |
OMIM:160900 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Diarrhea, Feeding difficulties in infancy, Vomiting, Failure to thrive |
OMIM:264350 |
Aa Amyloidosis |
|
Vomiting, Malnutrition, Cholestasis, Malabsorption, Nausea, Hepatomegaly, Abdominal pain, Chronic... |
ORPHA:85445 |
Fryns Syndrome |
|
Gastroesophageal reflux, Intestinal malrotation, Tetralogy of Fallot, Aganglionic megacolon, Ecto... |
ORPHA:2059 |
Thymic Carcinoma |
|
Neoplasm of the thymus, Weight loss, Mediastinal lymphadenopathy |
ORPHA:99868 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hypercalcemia |
OMIM:239199 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Pancytopenia, Splenomegaly |
OMIM:614979 |
Duodenal Ulcer, Hyperpepsinogenemic I |
|
Duodenal ulcer, Hyperpepsinogenemia I |
OMIM:126850 |
Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Diarrhea, Uveitis, Gastrointestinal infarctions, Nausea and vomiting... |
ORPHA:727 |
Geleophysic Dysplasia 3 |
|
Pneumonia, Polyhydramnios, Long philtrum, Thick vermilion border |
OMIM:617809 |
Myotonic Dystrophy 2 |
|
Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:602668 |
Cardiomyopathy, Dilated, 1A |
|
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... |
OMIM:115200 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Decreased circulating carnitine concentration, Glycosuria, Hypoglycemia, Osteomalac... |
ORPHA:3337 |
Stromme Syndrome |
|
Accessory spleen, Intestinal malrotation, Jejunal atresia, Duodenal atresia, Cleft palate |
OMIM:243605 |
Familial Thrombocytosis |
|
Chronic myelogenous leukemia, Splenomegaly, Acute myeloid leukemia, Weight loss, Thrombocytosis |
ORPHA:71493 |
Adult Intestinal Botulism |
|
Diarrhea |
ORPHA:178487 |
Acute Liver Failure |
|
Gastrointestinal hemorrhage, Hypotension, Depression, Hepatitis, Hypoglycemia, Hepatocellular nec... |
ORPHA:90062 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... |
OMIM:608203 |
Multiple Endocrine Neoplasia Type 4 |
|
Thymoma, Peptic ulcer, Increased circulating cortisol level, Fasting hyperinsulinemia, Insulinoma... |
ORPHA:276152 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Bone marrow hypocellularity, Congestive heart failure, Tricuspid regurgitation, Lymphopenia, Leuk... |
ORPHA:508542 |
Panbronchiolitis, Diffuse |
|
Bronchiectasis |
OMIM:604809 |
Cockayne Syndrome |
|
Gastroesophageal reflux, Malar rash, Splenomegaly, Gastrostomy tube feeding in infancy, Feeding d... |
ORPHA:191 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Autoimmune hemolytic anemia |
ORPHA:90037 |
Gm1 Gangliosidosis |
|
Gastroesophageal reflux, Long philtrum, Aspiration pneumonia, Gingival overgrowth, Narrow mouth, ... |
ORPHA:354 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Interstitial pneumonitis, Abnormal pulmonary interstitial morphology, Intraalveolar phospholipid ... |
ORPHA:217563 |
Fish-Eye Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:79292 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypermagnesemia, Peptic ulcer, Pancreatitis, Hypercalcemia |
OMIM:145981 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... |
OMIM:610921 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Pneumonia |
OMIM:253700 |
Lyme Disease |
|
Arrhythmia, Memory impairment, Arthritis, Atrioventricular block |
ORPHA:91546 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Dysphagia, Aspiration pneumonia |
ORPHA:216866 |
Dextrocardia |
|
Meckel diverticulum, Abnormality of abdominal situs, Pancreatic hypoplasia, Abnormal EKG, Intesti... |
ORPHA:1666 |
Primary Unilateral Adrenal Hyperplasia |
|
Epistaxis, Polydipsia, Palpitations, Decreased circulating renin level, Hypokalemia, Hypertension... |
ORPHA:231580 |
Glutaric Aciduria Iii |
|
Diarrhea, Vomiting, Failure to thrive |
OMIM:231690 |
Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
Niemann-Pick Disease, Type C1 |
|
Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Fatal liver failure in infancy, Prolonged ne... |
OMIM:257220 |
Cushing Disease |
|
Depression, Memory impairment, Increased circulating cortisol level, Lymphopenia, Paradoxical inc... |
ORPHA:96253 |
Meier-Gorlin Syndrome 7 |
|
Anal stenosis, Second degree atrioventricular block, Anteriorly placed anus, Duodenal stenosis, C... |
OMIM:617063 |
Spondyloocular Syndrome |
|
Platyspondyly, Osteopenia, Vertebral compression fracture, Mitral valve prolapse, Femur fracture,... |
OMIM:605822 |
Sclerosing Cholangitis, Neonatal |
|
Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Asci... |
OMIM:617394 |
Microform Holoprosencephaly |
|
Tetralogy of Fallot, Maternal diabetes, Scoliosis, Duodenal atresia, Cleft palate |
ORPHA:280200 |
Ethylmalonic Encephalopathy |
|
Diarrhea, Failure to thrive |
ORPHA:51188 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Vomiting, Diarrhea, Large for gestational age, Pancreatic islet-cell hyperplasia, Increased hepat... |
ORPHA:263455 |
Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Hypermagnesemia, Peptic ulcer, Osteomalacia, Pancreatitis, Hypocalcemic s... |
ORPHA:405 |
Focal Dermal Hypoplasia |
|
Gastroesophageal reflux, Coarse metaphyseal trabecularization, Camptodactyly of finger, Ventricul... |
ORPHA:2092 |
Gaucher Disease, Type I |
|
Pancytopenia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia |
OMIM:230800 |
Hereditary Acrokeratotic Poikiloderma |
|
Gingival bleeding, Abnormality of the dentition, Xerostomia, Oral leukoplakia, Eczematoid dermati... |
ORPHA:2907 |
Trisomy 18 |
|
Cachexia, Anal atresia, Esophageal atresia, Narrow palate, Cleft palate |
ORPHA:3380 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Microcolon, Ileus, Splenomegaly, Aganglionic megacolon, Arrhythmia, Ataxia, Hepatomegaly, Arthrog... |
ORPHA:163746 |
African Trypanosomiasis |
|
Second degree atrioventricular block, Third degree atrioventricular block, Congestive heart failu... |
ORPHA:3385 |
Chops Syndrome |
|
High, narrow palate, Gastroesophageal reflux, Downturned corners of mouth, Long philtrum, Aspirat... |
OMIM:616368 |
Spondyloenchondrodysplasia |
|
Pneumonia, Dental malocclusion, Delayed eruption of teeth, Hepatitis, Decreased response to growt... |
ORPHA:1855 |
Martinez-Frias Syndrome |
|
Annular pancreas, Pancreatic hypoplasia, Intestinal malrotation, Jejunal atresia, Tracheoesophage... |
OMIM:601346 |
Wolff-Parkinson-White Syndrome |
|
Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR... |
OMIM:194200 |
Erythroderma Desquamativum |
|
Seborrheic dermatitis, Diarrhea, Failure to thrive |
ORPHA:314 |
Erythrokeratodermia Variabilis |
|
Weight loss, Skin rash |
ORPHA:317 |
Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Chronic lymphatic leukemia, Jaundice, Splenomegaly, Autoimmune hemolytic anemia |
ORPHA:90033 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Pancreatitis, Aspiration pneumonia |
ORPHA:431361 |
Congenital Tracheomalacia |
|
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Ga... |
ORPHA:95430 |
Isolated Biliary Atresia |
|
Periportal fibrosis, Small for gestational age, Failure to thrive, Decreased liver function, Chol... |
ORPHA:30391 |
Lissencephaly, X-Linked, 2 |
|
Feeding difficulties in infancy, Diarrhea, High palate |
OMIM:300215 |
Methionine Malabsorption Syndrome |
|
Diarrhea |
OMIM:250900 |
Alkaptonuria |
|
Aortic valve stenosis, Aortic valve calcification, Abnormal heart valve morphology, Joint stiffne... |
ORPHA:56 |
Frontometaphyseal Dysplasia 2 |
|
Pyloric stenosis, Bifid uvula, Gastroesophageal reflux, Cryptorchidism, Feeding difficulties in i... |
OMIM:617137 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Diarrhea, Vomiting, Failure to thrive, Feeding difficulties |
OMIM:177735 |
Monosomy 18Q |
|
Slender build, Decreased circulating IgA level, Failure to thrive, High palate |
ORPHA:1600 |
Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
Cornelia De Lange Syndrome 1 |
|
High, narrow palate, Pneumonia, Gastroesophageal reflux, Downturned corners of mouth, Cleft upper... |
OMIM:122470 |
Sick Sinus Syndrome 4 |
|
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... |
OMIM:619464 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Hematochezia, Duodenal polyposis, Multiple gastric polyps, Small intestinal polyposis, Adenomatou... |
ORPHA:329971 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Adrenocorticotropin deficient ... |
ORPHA:293978 |
Progeroid Short Stature With Pigmented Nevi |
|
Allergic rhinitis, Vomiting, Impaired T cell function, Allergic conjunctivitis, Small for gestati... |
OMIM:176690 |
Bardet-Biedl Syndrome |
|
Inflammation of the large intestine, Dental crowding, Long philtrum, Decreased testicular size, C... |
ORPHA:110 |
Nephronophthisis 19 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... |
OMIM:616217 |
Radiculoneuropathy, Fatal Neonatal |
|
Chronic diarrhea |
OMIM:266250 |
Sotos Syndrome |
|
Abnormal vertebral morphology, Hip contracture, Ventricular septal defect, Atrial septal defect, ... |
ORPHA:821 |
Wild Type Attr Amyloidosis |
|
Intermittent diarrhea, Gastrointestinal dysmotility, Weight loss, Hepatomegaly, Chronic diarrhea,... |
ORPHA:330001 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Vomiting, Diarrhea, Pancytopenia, Skin rash, Left ventricular hypertrophy, Episodic vomiting |
OMIM:618321 |
Hyperaldosteronism, Familial, Type Iii |
|
Polydipsia, Hyperaldosteronism, Decreased circulating renin level, Hypokalemia, Hypertension |
OMIM:613677 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Recurrent aspiration pneumonia, Gastroesophageal reflux, Feeding difficulties, Gastrostomy tube f... |
ORPHA:79243 |
Methanol Poisoning |
|
Abdominal pain, Vomiting, Diarrhea |
ORPHA:31825 |
Schwartz-Jampel Syndrome |
|
Decreased body weight, Feeding difficulties in infancy, Cachexia, High palate, Cleft palate |
ORPHA:800 |
Proprotein Convertase 1/3 Deficiency |
|
Villous atrophy, Obesity, Diarrhea, Malabsorption |
OMIM:600955 |
Polymyositis |
|
Gastrointestinal hemorrhage, Gastroesophageal reflux, Constipation, Weight loss, Arthritis, Anore... |
ORPHA:732 |
Icf Syndrome |
|
Lymphopenia, Protruding tongue, Anemia, Macroglossia, Abnormality of neutrophils |
ORPHA:2268 |
Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... |
OMIM:604559 |
Ramos-Arroyo Syndrome |
|
Carious teeth, Xerostomia, Smooth tongue, Long philtrum, Keratitis, Narrow mouth, Chronic constip... |
ORPHA:1051 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Malignant gastrointestinal tract tumors, Increased circulating cortisol level, Abnormal lymph nod... |
ORPHA:99889 |
Meige Disease |
|
Recurrent bacterial skin infections, Lymph node hypoplasia, Recurrent skin infections, Absence of... |
ORPHA:90186 |
Dyskeratosis Congenita |
|
Bone marrow hypocellularity, Hepatic failure, Blepharitis, Periodontitis, Oral leukoplakia, Anore... |
ORPHA:1775 |
Cystic Fibrosis |
|
Bronchiectasis, Gastroesophageal reflux, Meconium ileus, Exocrine pancreatic insufficiency, Malab... |
ORPHA:586 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... |
ORPHA:29072 |
Leukocyte Adhesion Deficiency, Type I |
|
Periodontitis, Chronic mucocutaneous candidiasis, Osteomyelitis, Leukocytosis, Rectal abscess, Ch... |
OMIM:116920 |
Malakoplakia |
|
Inflammatory abnormality of the skin, Diarrhea, Urinary bladder inflammation, Neoplasm of the col... |
ORPHA:556 |
Behçet Disease |
|
Nausea and vomiting, Weight loss, Anorexia, Abdominal pain, Endocarditis, Gastrointestinal hemorr... |
ORPHA:117 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Hyperaldosteronism, Familial, Type I |
|
Hyperaldosteronism, Hypertension, Decreased circulating renin level |
OMIM:103900 |
Congenital Myopathy 20 |
|
High palate, Chronic diarrhea, Failure to thrive |
OMIM:620310 |
Progressive Familial Heart Block, Type Ii |
|
Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop... |
OMIM:140400 |
Cockayne Syndrome Type 1 |
|
Diarrhea, Failure to thrive, Hepatomegaly, Anemia, Conjunctivitis, Uveitis |
ORPHA:90321 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Anemia, Hepatomegaly, Diarrhea, Episodic vomiting |
OMIM:246450 |
Bartter Syndrome, Type 1, Antenatal |
|
Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hyperaldosteronis... |
OMIM:601678 |
Metachromatic Leukodystrophy |
|
Addictive behavior, Tip-toe gait, Abnormal stomach morphology, Emotional lability, Gait disturban... |
ORPHA:512 |
Cog8-Cdg |
|
Protein-losing enteropathy, Hypoglycemia, Ataxia |
ORPHA:95428 |
Developmental And Epileptic Encephalopathy 101 |
|
Limb joint contracture, Gastroesophageal reflux, Third degree atrioventricular block, Bradycardia |
OMIM:619814 |
Hennekam-Beemer Syndrome |
|
Pneumonia, Vomiting, Thick lower lip vermilion, Abdominal pain, High palate |
ORPHA:2135 |
Sandhoff Disease |
|
Hepatosplenomegaly, Cardiomegaly, Episodic abdominal pain, Hepatomegaly, Macroglossia, Chronic di... |
OMIM:268800 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Aortic regurgitation, Ventricular septal defect, Subvalvular aortic stenosis, Atrial septal defec... |
OMIM:614114 |
Mercury Poisoning |
|
Interstitial pneumonitis, Episodic abdominal pain, Episodic vomiting, Anorexia, Nausea |
ORPHA:330021 |
Sporadic Creutzfeldt-Jakob Disease |
|
Recurrent aspiration pneumonia |
ORPHA:204 |
Turcot Syndrome With Polyposis |
|
Hematochezia, Diarrhea, Vomiting, Adenomatous colonic polyposis, Intestinal polyposis, Nausea, He... |
ORPHA:99818 |
Apparent Mineralocorticoid Excess |
|
Hypokalemia, Hypertension, Decreased circulating renin level |
OMIM:218030 |
Agel Amyloidosis |
|
Xerostomia, Blepharochalasis, Respiratory tract infection, Keratoconjunctivitis sicca, Tongue atr... |
ORPHA:85448 |
Sick Sinus Syndrome 1 |
|
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... |
OMIM:608567 |
Familial Colorectal Cancer Type X |
|
Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Neoplasm of the colon, Malabsorption, Nau... |
ORPHA:440437 |
Cardiomyopathy, Dilated, 1Oo |
|
Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l... |
OMIM:620247 |
Prader-Willi Syndrome |
|
Small pituitary gland, Abnormality of the dentition, Vomiting, Periodontitis, Xerostomia, Downtur... |
ORPHA:739 |
Kabuki Syndrome 1 |
|
Recurrent aspiration pneumonia, Anal stenosis, Anoperineal fistula, Recurrent otitis media, Intes... |
OMIM:147920 |
Aapoaiv Amyloidosis |
|
Paraproteinemia, Abnormality of the gastrointestinal tract |
ORPHA:439232 |
Encephalopathy, Ethylmalonic |
|
Chronic diarrhea, Failure to thrive, Feeding difficulties |
OMIM:602473 |
Familial Glucocorticoid Deficiency |
|
Vomiting, Diarrhea, Failure to thrive, Episodic abdominal pain, Constipation, Weight loss, Anorexia |
ORPHA:361 |
Acrodermatitis Enteropathica |
|
Cheilitis, Failure to thrive, Furrowed tongue, Malabsorption, Pustule, Weight loss, Anorexia, Con... |
ORPHA:37 |
Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Failure to thrive, Anemia, Chronic diarrhea, Dysphagia, Feeding difficulties |
OMIM:620358 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Hepatic failure, Diarrhea, Vomiting, Micronodular cirrhosis, Failure to thrive, Hepatocellular ne... |
OMIM:256810 |
Loeffler Endocarditis |
|
Eosinophilia, Weight loss, Left ventricular hypertrophy, Pericarditis |
ORPHA:75566 |
Mednik Syndrome |
|
Hepatic fibrosis, Microcolon, Volvulus, Cholestasis, Jejunal atresia, Cirrhosis, Increased circul... |
OMIM:609313 |
Ectopic Aldosterone-Producing Tumor |
|
Epistaxis, Decreased circulating renin level, Hypokalemia, Hypertension, Glucocortocoid-insensiti... |
ORPHA:231632 |
Pitt-Hopkins Syndrome |
|
Tooth malposition, Gastroesophageal reflux, Failure of eruption of permanent teeth, Supernumerary... |
ORPHA:2896 |
Long Qt Syndrome 15 |
|
Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard... |
OMIM:616249 |
Lymphoid Interstitial Pneumonia |
|
Rheumatoid arthritis, Bronchiectasis, Failure to thrive, Eczematoid dermatitis, Skin rash, Weight... |
ORPHA:79128 |
Cryptococcosis |
|
Pneumonia, Vomiting, Osteomyelitis, Nodular pattern on pulmonary HRCT, Pleural effusion, Peritoni... |
ORPHA:1546 |
Rothmund-Thomson Syndrome |
|
Diarrhea, Aplastic anemia, Vomiting, Malar rash, Skin rash, Anemia, Neutropenia, Leukemia, Nasoga... |
ORPHA:2909 |
Isolated Succinate-Coq Reductase Deficiency |
|
Left ventricular hypertrophy, Feeding difficulties in infancy, Weight loss |
ORPHA:3208 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Pneumonia, Vomiting, Adrenal hyperplasia, Decreased circulating cortisol level, Macroorchidism |
ORPHA:90790 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Cachexia, Skin rash |
ORPHA:220295 |
Mucopolysaccharidosis, Type Iiid |
|
Diarrhea, Recurrent otitis media, Splenomegaly, Hepatomegaly, Macroglossia, Tube feeding, Dysphagia |
OMIM:252940 |
Immunodeficiency 49 |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc... |
OMIM:617237 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss, Erythroderma, Poor appetite |
ORPHA:312 |
Mohr-Tranebjaerg Syndrome |
|
Dysphagia, Aspiration pneumonia |
ORPHA:52368 |
Helix Syndrome |
|
Hyperparathyroidism, Hypohidrosis, Xerostomia, Anhidrosis |
OMIM:617671 |
Khan-Khan-Katsanis Syndrome |
|
Tricuspid regurgitation, Lymphopenia, Patent foramen ovale, Neutropenia, Joint contracture, Anemi... |
OMIM:618460 |
Melas |
|
Vomiting, Diarrhea, Intestinal pseudo-obstruction, Failure to thrive, Recurrent pancreatitis, Gas... |
ORPHA:550 |
Alport Syndrome 3A, Autosomal Dominant |
|
Hypertension, Hypophosphatemia, Azotemia |
OMIM:104200 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Dysphagia, Increased circulating antibody level |
OMIM:606002 |
Microgastria-Limb Reduction Defect Syndrome |
|
Microgastria, Gastroesophageal reflux, Failure to thrive, Intestinal malrotation, Abnormality of ... |
ORPHA:2538 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Gastroesophageal reflux, Annular pancreas, Furrowed tongue, Lumbar hyperlordosis, Patent foramen ... |
OMIM:616975 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Short hard palate, Cachexia, Anorexia |
ORPHA:1969 |
Atrial Septal Defect, Ostium Secundum Type |
|
Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Sys... |
ORPHA:99103 |
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
Intestinal bleeding, Spastic gait, Duodenal polyposis, Hepatoblastoma, Iron deficiency anemia, Sh... |
ORPHA:261584 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Osteomyelitis, Inflammation of the large intestine, Edema |
ORPHA:70591 |
Gm1 Gangliosidosis Type 1 |
|
Long philtrum, Aspiration pneumonia, Gingival overgrowth, Macroglossia, Hydrops fetalis, Feeding ... |
ORPHA:79255 |
Hyperzincemia With Functional Zinc Depletion |
|
Hepatomegaly, Diarrhea, Skin rash |
OMIM:601979 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Pneumonia, Gastrointestinal hemorrhage, Macular edema, Skin rash, Compensated hypothyroidism |
ORPHA:247691 |
Chronic Graft Versus Host Disease |
|
Diarrhea, Xerostomia, Gastroesophageal reflux, Urinary bladder inflammation, Fasciitis, Ascites, ... |
ORPHA:99921 |
Niemann-Pick Disease, Type C2 |
|
Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, J... |
OMIM:607625 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Pneumonia, Inflammatory abnormality of the skin, Xerostomia, Keratitis, Oral synechia, Diarrhea, ... |
ORPHA:95455 |
Diamond-Blackfan Anemia 21 |
|
Obesity, Erythroid hypoplasia, Thrombocytopenia, Anemia, Chronic diarrhea |
OMIM:620072 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Abnormal oral mucosa morphology, Pneumonia, Vomiting, Edema, Dehydration, Malnutrition, Pyoderma,... |
ORPHA:79404 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... |
OMIM:615616 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Intrahepatic cholestasis, Periportal fibrosis, Chronic diarrhea, Failure to thrive |
OMIM:619484 |
Plasminogen Deficiency, Type I |
|
Decreased level of plasminogen, Duodenal ulcer |
OMIM:217090 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Decreased circulating IgG level, Neutropenia |
OMIM:271510 |
Pheochromocytoma |
|
Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr... |
OMIM:171300 |
Hardikar Syndrome |
|
Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Cleft soft palate, Bilateral... |
OMIM:301068 |
Huntington Disease |
|
Weight loss, Oral-pharyngeal dysphagia, Decreased body mass index |
ORPHA:399 |
Tarp Syndrome |
|
Broad-based gait, Extramedullary hematopoiesis, Tetralogy of Fallot, Abnormal duodenum morphology... |
ORPHA:2886 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Gastroesophageal reflux, Aspiration pneumonia, Ineffective esophageal peristalsis, Chronic consti... |
OMIM:619482 |
Liddle Syndrome 2 |
|
Hypokalemia, Hypertension, Decreased circulating renin level |
OMIM:618114 |
Liddle Syndrome 3 |
|
Hypokalemia, Hypertension, Decreased circulating renin level |
OMIM:618126 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatic fibrosis, Hepatic failure, Cholestasis, Hepatosplenomegaly, Esophagitis, Hepatic steatosi... |
ORPHA:541423 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Hepatic failure, Delayed eruption of teeth, Widely spaced teeth, Aspiration pneumonia, Ascites, G... |
OMIM:301072 |
Trichinellosis |
|
Increased circulating IgE level, Skin rash, Conjunctivitis, Nausea, Dysphagia |
ORPHA:863 |
Liddle Syndrome 1 |
|
Hypokalemia, Hypertension, Decreased circulating renin level |
OMIM:177200 |
Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia, Hypertension, Decreased circulating renin level |
OMIM:614492 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Rheumatoid arthritis, Psoriasiform dermatitis, Nausea and vomiting, Hashimoto ... |
ORPHA:49041 |
Long Qt Syndrome 14 |
|
T-wave alternans, 2:1 atrioventricular block, Prolonged QT interval, Ventricular fibrillation, Ca... |
OMIM:616247 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
High, narrow palate, Abnormality of the dentition, Inflammation of the large intestine, Lymphedem... |
ORPHA:99413 |
Mosaic Monosomy X |
|
High, narrow palate, Abnormality of the dentition, Inflammation of the large intestine, Lymphedem... |
ORPHA:99228 |
Monosomy X |
|
High, narrow palate, Abnormality of the dentition, Inflammation of the large intestine, Lymphedem... |
ORPHA:99226 |
Turner Syndrome |
|
High, narrow palate, Abnormality of the dentition, Inflammation of the large intestine, Lymphedem... |
ORPHA:881 |
Juvenile Huntington Disease |
|
Weight loss |
ORPHA:248111 |
Liposarcoma |
|
Abdominal pain, Weight loss, Nausea and vomiting |
ORPHA:69078 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Atrioventricular block, Abnormality of the hepatic vasculature, Complete heart block with narrow ... |
ORPHA:1677 |
Trichohepatoneurodevelopmental Syndrome |
|
Cholelithiasis, Gastroesophageal reflux, Decreased liver function, Exocrine pancreatic insufficie... |
OMIM:618268 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Chronic constipation, Decreased body weight, Thrombocytopenia, Hepatomegaly, High palate, Chronic... |
OMIM:619005 |
Leukocyte Adhesion Deficiency |
|
Pneumonia, Abnormality of the dentition, Vaginitis, Osteomyelitis, Recurrent aphthous stomatitis,... |
ORPHA:2968 |
Rothmund-Thomson Syndrome Type 1 |
|
Diarrhea, Aplastic anemia, Vomiting, Nasogastric tube feeding, Functional abnormality of the gast... |
ORPHA:221008 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Self-injurious behavior, Ankle flexion contracture, Sacrococcygeal pilonidal abnormality, Camptod... |
ORPHA:468631 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Recurrent aspiration pneumonia, Anal stenosis, Rectovestibular fistula, Peripheral pulmonary arte... |
ORPHA:280633 |
Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Diarrhea, Osteomyelitis, Constipation, Osteoarthritis, Septic arthritis |
OMIM:608654 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Pyomyositis |
|
Myositis, Weight loss, Leukocytosis, Recurrent cutaneous abscess formation |
ORPHA:764 |
Miller-Dieker Lissencephaly Syndrome |
|
Joint contracture of the hand, Abnormal heart morphology, Sacral dimple, Camptodactyly, Duodenal ... |
OMIM:247200 |
Infantile Systemic Hyalinosis |
|
Aplasia/Hypoplasia of the thymus, Failure to thrive, Malabsorption, Abnormality of the gastrointe... |
ORPHA:2176 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Narrow palate, Diarrhea, Vomiting, Lipid accumulation in hepatocytes, Cardiomegaly, Hepatic calci... |
OMIM:608836 |
Rothmund-Thomson Syndrome Type 2 |
|
Diarrhea, Aplastic anemia, Vomiting, Nasogastric tube feeding, Functional abnormality of the gast... |
ORPHA:221016 |
Hyperlipoproteinemia, Type I |
|
Vomiting, Hepatosplenomegaly, Splenomegaly, Nausea, Episodic abdominal pain, Jaundice, Acute panc... |
OMIM:238600 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Aortic valve stenosis, Emotional lability, Ventricular septal defect, Bicuspid aortic valve, Atri... |
ORPHA:353281 |
Carnitine Palmitoyltransferase I Deficiency |
|
Diarrhea, Hepatic steatosis, Cardiomegaly, Hepatomegaly, Feeding difficulties |
OMIM:255120 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Diarrhea, Vomiting, Failure to thrive, Acute hepatic failure, Hepatic necrosis, Hepatic steatosis... |
ORPHA:71212 |
Amyloidosis, Hereditary Systemic 1 |
|
Cardiomegaly, Diarrhea, Episodic vomiting, Constipation |
OMIM:105210 |
Infantile Neuroaxonal Dystrophy |
|
Constipation, Aspiration pneumonia |
ORPHA:35069 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypermagnesemia, Pancreatitis, Hypercalcemia |
OMIM:145980 |
Giant Cell Arteritis |
|
Hepatic failure, Gastrointestinal infarctions, Weight loss, Arthritis, Anorexia, Abdominal pain, ... |
ORPHA:397 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Nausea, Chronic diarrhea |
OMIM:615084 |
Eec Syndrome |
|
Carious teeth, Xerostomia, Blepharitis, Keratitis, Tooth agenesis, Decreased response to growth h... |
ORPHA:1896 |
Stickler Syndrome |
|
Bifid uvula, Gastroesophageal reflux, Slender build, Short hard palate, Cachexia, Feeding difficu... |
ORPHA:828 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Small pituitary gland, Xerostomia, Downturned corners of mouth, Central hypothyroidism, Nasogastr... |
ORPHA:398079 |
Renal Nutcracker Syndrome |
|
Anemia, Abdominal pain, Weight loss, Nausea |
ORPHA:71273 |
Polyarteritis Nodosa |
|
Abdominal pain, Abnormality of the gastrointestinal tract, Weight loss, Pericarditis |
ORPHA:767 |
Hyperoxaluria, Primary, Type I |
|
Atrioventricular block, Arterial occlusion, Pathologic fracture, Hyperoxaluria, Intermittent clau... |
OMIM:259900 |
Satoyoshi Syndrome |
|
Diarrhea, Malabsorption |
OMIM:600705 |
Focal Myositis |
|
Myositis, Weight loss |
ORPHA:48918 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Small pituitary gland, Gastroesophageal reflux, Xerostomia, Downturned corners of mouth, Central ... |
ORPHA:398069 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... |
OMIM:208540 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Colon perforation, Microcolon, Total absence of the pericardium, Hypoplastic tricuspid valve, Gly... |
OMIM:600001 |
Fanconi Anemia |
|
Meckel diverticulum, Aplasia/Hypoplasia of the uvula, Duodenal stenosis, Hypertrophic cardiomyopa... |
ORPHA:84 |
Pemphigus Vulgaris |
|
Feeding difficulties in infancy, Weight loss, Recurrent cutaneous abscess formation, Feeding diff... |
ORPHA:704 |
Holoprosencephaly 13, X-Linked |
|
Hypoplastic left heart, Gastroesophageal reflux, Thoracic hemivertebrae, Median cleft palate, But... |
OMIM:301043 |
Feingold Syndrome Type 1 |
|
Tricuspid stenosis, Abnormal heart morphology, Multiple muscular ventricular septal defects, Jeju... |
ORPHA:391641 |
Lissencephaly Due To Lis1 Mutation |
|
Polyhydramnios, Feeding difficulties, Aspiration pneumonia |
ORPHA:95232 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Arteritis, Intestinal fistula, Gastrointestinal infarctions, Nausea ... |
ORPHA:679 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hematochezia, Gastrointestinal hemorrhage, Ascites, Abnormality of the liver, Abnormal gastrointe... |
ORPHA:464321 |
Proximal Spinal Muscular Atrophy |
|
Gastroesophageal reflux, Gastroparesis, Recurrent infections due to aspiration, Constipation, Rec... |
ORPHA:70 |
Cysticercosis |
|
Increased anti-parasite IgE antibody level, Infectious encephalitis, Iridocyclitis, Increased cir... |
ORPHA:1560 |
Mowat-Wilson Syndrome |
|
Bifid uvula, Submucous cleft of soft and hard palate, Vomiting, Recurrent otitis media, Decreased... |
ORPHA:2152 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Diarrhea, Failure to thrive, Otitis media, Constipation, High palate, Intermittent diarrhea, Feed... |
OMIM:618050 |
9Q33.3Q34.11 Microdeletion Syndrome |
|
Tented philtrum, Esophagitis, Narrow mouth, Cryptorchidism, Constipation, Thin vermilion border, ... |
ORPHA:495818 |
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
|
Hypertension, Decreased circulating renin level |
OMIM:605115 |
19P13.13 Microdeletion Syndrome |
|
Macroglossia, Vomiting, Diarrhea, Functional abnormality of the gastrointestinal tract, Abdominal... |
ORPHA:357001 |
Duodenal Atresia |
|
Duodenal atresia |
OMIM:223400 |
Onychotrichodysplasia And Neutropenia |
|
Chronic irritative conjunctivitis, Lymphocytosis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
Bile Acid Malabsorption, Primary, 2 |
|
Periportal fibrosis, Copper accumulation in liver, Prolonged neonatal jaundice, Chronic diarrhea,... |
OMIM:619481 |
Seckel Syndrome |
|
Cachexia |
ORPHA:808 |
Congenital Disorder Of Glycosylation, Type Im |
|
Inflammatory abnormality of the skin, Vomiting, Diarrhea, Failure to thrive |
OMIM:610768 |
Semilobar Holoprosencephaly |
|
Bifid uvula, Gastroesophageal reflux, Central hypothyroidism, Vomiting, Aspiration pneumonia, Dec... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Bifid uvula, Gastroesophageal reflux, Central hypothyroidism, Vomiting, Aspiration pneumonia, Dec... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Bifid uvula, Gastroesophageal reflux, Central hypothyroidism, Vomiting, Aspiration pneumonia, Dec... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Bifid uvula, Gastroesophageal reflux, Central hypothyroidism, Vomiting, Aspiration pneumonia, Dec... |
ORPHA:93924 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Xerostomia |
OMIM:618527 |
Hurler Syndrome |
|
Splenomegaly, Abnormality of the tonsils, Hepatomegaly, Macroglossia, Rhinitis, Chronic diarrhea,... |
ORPHA:93473 |
Tremor-Nystagmus-Duodenal Ulcer Syndrome |
|
Duodenal ulcer, Ataxia |
ORPHA:3350 |
Granulomatosis With Polyangiitis |
|
Keratitis, Episcleritis, Weight loss, Granulomatosis, Sinusitis, Conjunctivitis, Chronic otitis m... |
OMIM:608710 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Hiatus hernia, Esophagitis, Gastroesophageal reflux |
ORPHA:1901 |
Duodenal Atresia |
|
Annular pancreas, Duodenal atresia, Abnormality of the pancreas |
ORPHA:1203 |
Familial Short Qt Syndrome |
|
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... |
ORPHA:51083 |
Deeah Syndrome |
|
Narrow palate, Exocrine pancreatic insufficiency, Malabsorption, Chronic constipation, Decreased ... |
OMIM:619004 |
Acute Generalized Exanthematous Pustulosis |
|
Cholestasis, Leukocytosis, Eosinophilia, Lymphadenopathy, Neutropenia, Neutrophilia |
ORPHA:293173 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Splenomegaly, Hepatic cysts, Hemateme... |
OMIM:263200 |
Proteus Syndrome |
|
Thymus hyperplasia, Neoplasm of the thymus, Splenomegaly, Enlarged polycystic ovaries, Cachexia, ... |
ORPHA:744 |
Alternating Hemiplegia Of Childhood |
|
Diarrhea, Vomiting, Failure to thrive, Oral-pharyngeal dysphagia, Anorexia, Gastrointestinal dysm... |
ORPHA:2131 |
Acrocephalopolydactylous Dysplasia |
|
Hepatic fibrosis, Polysplenia, Hypoplastic colon, Short neck, Pancreatic fibrosis, Hepatomegaly, ... |
OMIM:200995 |
Erdheim-Chester Disease |
|
Osteomyelitis, Nausea and vomiting, Skin rash, Weight loss, Anemia, Abdominal pain, Retroperitone... |
ORPHA:35687 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Vomiting, Diarrhea, Hepatic steatosis, Reye syndrome-like episodes, Hepatomegaly |
ORPHA:348 |
Opitz Gbbb Syndrome |
|
Recurrent aspiration pneumonia, Cleft lip, Natal tooth, Long philtrum, Ankyloglossia, Cryptorchid... |
ORPHA:2745 |
Fatal Familial Insomnia |
|
Constipation, Dysphagia, Weight loss |
OMIM:600072 |
Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Otitis media, Intestinal obstruction, Skin rash... |
ORPHA:900 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating renin level, Hypokalemia, Decreased circulating cortisol level, Intracrania... |
ORPHA:90795 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment |
ORPHA:309246 |
Thrombocytopenia-Absent Radius Syndrome |
|
Meckel diverticulum, Carpal synostosis, Tetralogy of Fallot, Atrioventricular canal defect, Hepat... |
OMIM:274000 |
Chikungunya |
|
Vomiting, Diarrhea, Cervical lymphadenopathy, Skin rash, Infectious encephalitis, Crusting erythe... |
ORPHA:324625 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Feeding difficulties, Aspiration pneumonia |
OMIM:619167 |
Tropical Pancreatitis |
|
Vomiting, Malnutrition, Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic ca... |
ORPHA:103918 |
Young-Onset Parkinson Disease |
|
Gastroparesis, Diarrhea, Nausea, Constipation |
ORPHA:2828 |
Microvillus Inclusion Disease |
|
Villous atrophy, Abnormal small intestinal villus morphology, Diarrhea, Abdominal distention |
ORPHA:2290 |
Marshall-Smith Syndrome |
|
Eclabion, Recurrent upper respiratory tract infections, Recurrent aspiration pneumonia, Anteriorl... |
OMIM:602535 |
Cat Eye Syndrome |
|
Hypoplastic left heart, Anal stenosis, Total anomalous pulmonary venous return, Meckel diverticul... |
OMIM:115470 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Gastroesophageal reflux, Failure to thrive, Chronic constipation, Feeding difficulties in infancy... |
ORPHA:500055 |
Acute Intermittent Porphyria |
|
Diarrhea, Pseudobulbar paralysis, Ileus, Nausea and vomiting, Constipation, Abdominal distention,... |
ORPHA:79276 |
Acromesomelic Dysplasia 4 |
|
Platyspondyly, Third degree atrioventricular block, Thoracic platyspondyly, Lumbar hyperlordosis,... |
OMIM:619636 |
Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Weight loss, ... |
ORPHA:97286 |
Mucopolysaccharidosis, Type Vi |
|
Pneumonia, Recurrent upper respiratory tract infections, Carious teeth, Delayed eruption of teeth... |
OMIM:253200 |
Graves Disease |
|
Weight loss, Abnormal abdomen morphology |
OMIM:275000 |
Pericardial And Diaphragmatic Defect |
|
Meckel diverticulum, Intestinal malrotation, Abnormal heart morphology, Tetralogy of Fallot, Palp... |
ORPHA:2847 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Hepatic hemangioma, Recurrent aspiration pneumonia, Gastroesophageal reflux, Dysphagia |
ORPHA:73230 |
Congenital Fiber-Type Disproportion Myopathy |
|
Dental crowding, Recurrent respiratory infections, Aspiration pneumonia, Polyhydramnios, Nasogast... |
ORPHA:2020 |
Solitary Fibrous Tumor |
|
Pelvic mass, Neoplasm of the liver, Constipation, Weight loss, Abnormal peritoneum morphology |
ORPHA:2126 |
Doors Syndrome |
|
Aspiration pneumonia, Short lingual frenulum, Adrenal hyperplasia, Open mouth, High palate, Gastr... |
ORPHA:79500 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating renin level, Hypokalemia, Decreased circulating cortisol level, Increased c... |
ORPHA:90793 |
Huntington Disease-Like 1 |
|
Weight loss |
ORPHA:157941 |
Dubowitz Syndrome |
|
Anal stenosis, Eczematoid dermatitis, Malabsorption, Chronic diarrhea, Submucous cleft hard palat... |
ORPHA:235 |
Hereditary Angioedema Type 1 |
|
Vomiting, Diarrhea, Nausea, Intestinal edema, Abnormal soft palate morphology, Abdominal pain, Dy... |
ORPHA:100050 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Vomiting, Esophagitis, Gastroesophageal reflux, Feeding difficulties |
ORPHA:79351 |
Multiple Endocrine Neoplasia, Type Iib |
|
High, narrow palate, Colonic diverticula, Diarrhea, Failure to thrive in infancy, Aganglionic meg... |
OMIM:162300 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Diarrhea, Weight loss, Small for gestational age |
ORPHA:424 |
Coffin-Siris Syndrome 1 |
|
Kyphosis, Intestinal malrotation, Tetralogy of Fallot, Sacral dimple, Gait ataxia, Joint hypermob... |
OMIM:135900 |
Simpson-Golabi-Behmel Syndrome |
|
High, narrow palate, Polysplenia, Increased circulating IgE level, Splenomegaly, Pancreatic islet... |
ORPHA:373 |
Pulmonary Alveolar Microlithiasis |
|
Bronchitis, Interlobular septal thickening, Subpleural interstitial thickening, Peripheral edema,... |
ORPHA:60025 |
Familial Hypoaldosteronism |
|
Diarrhea, Nausea and vomiting, Failure to thrive, Feeding difficulties |
ORPHA:427 |
Marfan Syndrome |
|
High, narrow palate, Slender build, Cachexia, Arthralgia/arthritis, Cleft palate |
ORPHA:558 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Vomiting, Diarrhea, Gastroesophageal reflux, Feeding difficulties in infancy, Constipation |
OMIM:223900 |
Mucolipidosis Type Ii |
|
Hepatosplenomegaly, Splenomegaly, Otitis media, Gastrostomy tube feeding in infancy, Left ventric... |
ORPHA:576 |
Leopard Syndrome 1 |
|
Third degree atrioventricular block, Hypertrophic cardiomyopathy, Bundle branch block, Complete a... |
OMIM:151100 |
Congenital Disorder Of Glycosylation, Type It |
|
Intrahepatic cholestasis, Bifid uvula, Vomiting, Hepatitis, Recurrent otitis media, Hepatic steat... |
OMIM:614921 |
Houge-Janssens Syndrome 1 |
|
Chronic diarrhea, Pyloric stenosis |
OMIM:616355 |
Diets-Jongmans Syndrome |
|
Ventricular septal defect, Joint hypermobility, Aggressive behavior, Attention deficit hyperactiv... |
OMIM:618846 |
Amoebiasis Due To Free-Living Amoebae |
|
Pneumonia, Vomiting, Respiratory tract infection, Infectious encephalitis, Pustule, Cerebral edem... |
ORPHA:68 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Lymphopenia, T lymphocytopenia |
OMIM:618309 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Aortic valve stenosis, Emotional lability, Ventricular septal defect, Bicuspid aortic valve, Atri... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Aortic valve stenosis, Emotional lability, Ventricular septal defect, Bicuspid aortic valve, Atri... |
ORPHA:353277 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Feeding difficulties in infancy, Diarrhea, Gastroesophageal reflux, Constipation |
OMIM:608643 |
Bullous Pemphigoid |
|
Weight loss, Psoriasiform dermatitis, Eczematoid dermatitis |
ORPHA:703 |
Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Malabsorption, Weight loss, Neutropenia, Anorexia, Abdominal pain |
ORPHA:79430 |
Arterial Tortuosity Syndrome |
|
Gastroesophageal reflux, Esophagitis, Median cleft palate, Hiatus hernia, Pulmonary artery stenos... |
ORPHA:3342 |
Degcags Syndrome |
|
Pneumonia, Gastroesophageal reflux, Long philtrum, Nasogastric tube feeding, Oral-pharyngeal dysp... |
OMIM:619488 |
Ciliary Dyskinesia, Primary, 20 |
|
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent sinusitis, Pulmonary artery s... |
OMIM:615067 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Joint contracture of the hand, Scoliosis, Hypoglycemia, Anteriorly placed anus, Carpal synostosis... |
OMIM:201750 |
Glossopharyngeal Neuralgia |
|
Oral-pharyngeal dysphagia, Malnutrition, Weight loss, Odynophagia, Feeding difficulties |
ORPHA:221098 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Hypoalbuminemia |
OMIM:614748 |
Perry Syndrome |
|
Weight loss |
ORPHA:178509 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Secretory diarrhea, Intestinal malrotation, Abdominal distention, Anal atresia, Rectovaginal fist... |
OMIM:270420 |
Coffin-Siris Syndrome |
|
Recurrent upper respiratory tract infections, Delayed eruption of teeth, Thick lower lip vermilio... |
ORPHA:1465 |
Cutis Laxa, Autosomal Dominant 1 |
|
Emphysema, Peripheral pulmonary artery stenosis, Bronchiectasis, Long philtrum |
OMIM:123700 |
Atrial Tachyarrhythmia With Short Pr Interval |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Sho... |
OMIM:108950 |
Ogden Syndrome |
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Narrow palate, Diarrhea, Vomiting, Polycythemia, Eczematoid dermatitis, Recurrent otitis media, H... |
OMIM:300855 |
Congenital Tracheal Stenosis |
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Hypoplastic left heart, Meckel diverticulum, Duodenal stenosis, Abnormal stomach morphology, Abno... |
ORPHA:141127 |
Alpha-Mannosidosis, Infantile Form |
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Pneumonia, Widely spaced teeth, Otitis media, Recurrent gastroenteritis, Macroglossia |
ORPHA:309282 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Gastroesophageal reflux, Downturned corners of mouth, Long philtrum, Aspiration pneumonia, Decrea... |
ORPHA:444077 |
Familial Gestational Hyperthyroidism |
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Diarrhea, Weight loss |
ORPHA:99819 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Decreased circulating IgG level, Bifid uvula, Gastroesophageal reflux, Failure to thrive in infan... |
ORPHA:500150 |
Mungan Syndrome |
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Barrett esophagus, Intestinal pseudo-obstruction, Tricuspid regurgitation, Megaduodenum, Perimemb... |
OMIM:611376 |
Serotonin Syndrome |
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Nausea, Hepatic failure, Diarrhea |
ORPHA:43116 |
Adult-Onset Autosomal Dominant Leukodystrophy |
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Malnutrition, Aspiration pneumonia, Constipation, Anhidrosis, Decreased sweating due to autonomic... |
ORPHA:99027 |
Oromandibular Dystonia |
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Weight loss, Dysphagia |
ORPHA:93958 |
Apolipoprotein C-Ii Deficiency |
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Hepatomegaly, Pancreatitis, Splenomegaly |
OMIM:207750 |
Juvenile Dermatomyositis |
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Gastrointestinal hemorrhage, Skin rash, Myositis, Constipation, Weight loss, Arthritis, Abdominal... |
ORPHA:93672 |
Arboleda-Tham Syndrome |
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Recurrent aspiration pneumonia, Gastroesophageal reflux, Downturned corners of mouth, Recurrent r... |
OMIM:616268 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
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Intractable diarrhea, Congenital pyloric atresia, Esophageal atresia |
OMIM:226730 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
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Gastroesophageal reflux, Recurrent respiratory infections, Supernumerary nipple, Recurrent aspira... |
ORPHA:397715 |
Bartter Syndrome, Type 2, Antenatal |
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Vomiting, Diarrhea, Failure to thrive, Constipation, Impaired platelet aggregation, Small for ges... |
OMIM:241200 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
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Hypokalemia, Elevated serum 11-deoxycortisol, Hypertension, Decreased circulating renin level |
OMIM:202010 |
Fontaine Progeroid Syndrome |
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High, narrow palate, Absent nipple, Gastroesophageal reflux, Long philtrum, Anteriorly placed anu... |
OMIM:612289 |
Alg9-Cdg |
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Bifid uvula, Periportal fibrosis, Diarrhea, Vomiting, Gastroesophageal reflux, Villous atrophy, H... |
ORPHA:79328 |
Short Syndrome |
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Weight loss, Poor appetite |
ORPHA:3163 |
Iniencephaly |
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Absent vertebra, Hyperlordosis, Anal atresia, Arthrogryposis multiplex congenita, Duodenal atresia |
ORPHA:63259 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
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Esophagitis, Achalasia, Feeding difficulties |
OMIM:615356 |
Tay-Sachs Disease |
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Dysphagia, Gastrostomy tube feeding in infancy, Aspiration pneumonia |
ORPHA:845 |
Osteosarcoma |
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Weight loss |
ORPHA:668 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
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Septic arthritis, Fasciitis, Osteomyelitis, Alveolar ridge overgrowth, Tooth abscess, Hyperhidros... |
ORPHA:642 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
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Aortic regurgitation, Intestinal malrotation, Tricuspid regurgitation, Mitral regurgitation, Mitr... |
OMIM:601776 |
Diarrhea 1, Secretory Chloride, Congenital |
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Secretory diarrhea, Failure to thrive, Elevated stool chloride content, Abdominal distention |
OMIM:214700 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
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Protein-losing enteropathy |
OMIM:618154 |
Wolf-Hirschhorn Syndrome |
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Accessory spleen, Malrotation of small bowel, Gastroesophageal reflux, Abnormal form of the verte... |
OMIM:194190 |
Hypoplasminogenemia |
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Decreased level of plasminogen, Duodenal ulcer |
ORPHA:722 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
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High palate, Chronic diarrhea, Submucous cleft hard palate, Pyloric stenosis |
ORPHA:457279 |
Neonatal Inflammatory Skin And Bowel Disease |
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Chapped lip, Bloody diarrhea, Anal fissure, Psoriasiform dermatitis, Perianal dermatitis, Recurre... |
ORPHA:294023 |
Glycogen Storage Disease Ia |
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Gout, Pancreatitis, Protuberant abdomen, Hepatomegaly, Intermittent diarrhea, Enlarged kidney, He... |
OMIM:232200 |
Occipital Horn Syndrome |
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High, narrow palate, Gastroesophageal reflux, Hepatitis, Long philtrum, Gastroparesis, Esophagiti... |
ORPHA:198 |
Holt-Oram Syndrome |
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Cleft soft palate, Atrioventricular dissociation, Mitral regurgitation, Mitral valve prolapse, Si... |
OMIM:142900 |
Tremor, Nystagmus, And Duodenal Ulcer |
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Duodenal ulcer |
OMIM:190310 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
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Gastrointestinal angiodysplasia, Nasal mucosa telangiectasia, Cirrhosis, Polycythemia, Facial tel... |
OMIM:600376 |
Rheumatoid Arthritis |
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Rheumatoid arthritis, Weight loss |
OMIM:180300 |
Wiedemann-Rautenstrauch Syndrome |
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Pneumonia, Natal tooth, Downturned corners of mouth, Long philtrum, Delayed eruption of teeth, Na... |
OMIM:264090 |
Menke-Hennekam Syndrome 2 |
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Duodenal ulcer, Joint hypermobility |
OMIM:618333 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
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Myocarditis, Arrhythmia, Platyspondyly, Atrioventricular block |
ORPHA:93317 |
Cerebrotendinous Xanthomatosis |
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Cholelithiasis, Diarrhea, Pseudobulbar paralysis |
OMIM:213700 |
Bickerstaff Brainstem Encephalitis |
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Pneumonia, Respiratory tract infection, Recurrent gastroenteritis |
ORPHA:79138 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
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Weight loss |
OMIM:188580 |
Mucopolysaccharidosis Type 2, Severe Form |
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Hepatosplenomegaly, Splenomegaly, Arthritis, Enlarged tonsils, Macroglossia, Chronic diarrhea, In... |
ORPHA:217085 |
Atrial Septal Defect, Coronary Sinus Type |
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Pneumonia, Anomalous pulmonary venous return |
ORPHA:99104 |
Mucopolysaccharidosis Type 2, Attenuated Form |
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Hepatosplenomegaly, Splenomegaly, Arthritis, Enlarged tonsils, Macroglossia, Chronic diarrhea, In... |
ORPHA:217093 |
Pulmonary Hypertension, Primary, 4 |
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Pulmonary arterial hypertension with lack of acute response to NO challenge, Atrial flutter, Incr... |
OMIM:615344 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
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Weight loss |
OMIM:613239 |
Adrenocortical Carcinoma |
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Increased body weight, Abdominal pain, Weight loss |
ORPHA:1501 |
8P23.1 Microdeletion Syndrome |
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Obesity, Weight loss, High palate |
ORPHA:251071 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Exaggerated median tongue furrow, Ventricular septal defect, Hepatoblastoma, Arrhythmia, Atrial s... |
OMIM:312870 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
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Microcolon, Intestinal malrotation, Neoplasm of the heart, Abnormality of the gastrointestinal tr... |
ORPHA:2241 |
Aspartylglucosaminuria |
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Macroglossia, Diarrhea, Neutropenia, Hepatomegaly, Vacuolated lymphocytes, Acne |
OMIM:208400 |
Hereditary Late-Onset Parkinson Disease |
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Weight loss, Dysphagia, Chronic constipation |
ORPHA:411602 |
Perry Syndrome |
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Weight loss |
OMIM:168605 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
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Gastroparesis, Weight loss, Dysphagia, Intestinal pseudo-obstruction |
OMIM:607459 |
Helsmoortel-Van Der Aa Syndrome |
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High, narrow palate, Gastroesophageal reflux, Failure to thrive, Ankyloglossia, Obesity, Constipa... |
OMIM:615873 |
Choreoacanthocytosis |
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Acanthocytosis, Splenomegaly, Protruding tongue, Abnormal erythrocyte enzyme concentration or act... |
ORPHA:2388 |
Atrial Septal Defect 1 |
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Aortic valve stenosis, Secundum atrial septal defect, Second degree atrioventricular block, Tetra... |
OMIM:108800 |
Restrictive Dermopathy |
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Osteopenia, Microcolon, Camptodactyly of finger, Multiple joint contractures, Submucous cleft har... |
ORPHA:1662 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
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Hemolytic anemia |
OMIM:175780 |
Mucopolysaccharidosis Type 2 |
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Hip osteoarthritis, Splenomegaly, Hepatomegaly, Enlarged tonsils, Macroglossia, Chronic diarrhea |
ORPHA:580 |
Townes-Brocks Syndrome 1 |
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Anal stenosis, Gastroesophageal reflux, Tetralogy of Fallot, Ventricular septal defect, Tracheoes... |
OMIM:107480 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
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Bidirectional shunt, Microcolon, Ileal atresia, Peritonitis, Elevated pulmonary artery pressure |
OMIM:619351 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
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Intestinal malrotation, Microcolon, Portal hypertension |
OMIM:619431 |
Norrie Disease |
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Cachexia, Failure to thrive |
ORPHA:649 |
Niemann-Pick Disease Type C |
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Hepatic failure, Fetal ascites, Aspiration pneumonia, Ascites, Gastrostomy tube feeding in infanc... |
ORPHA:646 |
Dermatomyositis |
|
Abnormal eosinophil morphology, Heliotrope rash, Skin rash, Myositis, Feeding difficulties in inf... |
ORPHA:221 |
Lipodystrophy, Familial Partial, Type 7 |
|
Vomiting, Diarrhea, Failure to thrive, Recurrent pancreatitis, Dysphagia, Small for gestational a... |
OMIM:606721 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
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Acne, Seborrheic dermatitis, Secretory diarrhea |
OMIM:167100 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Abnormal heart morphology, Microcolon |
OMIM:619362 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Gastroesophageal reflux, Increased circulating prolactin concentration, Aspiration pneumonia, Cry... |
ORPHA:438213 |
Scorpion Envenomation |
|
Vomiting, Diarrhea, Myocarditis, Abdominal pain, Acute pancreatitis |
ORPHA:466677 |
Zttk Syndrome |
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Bifid uvula, Failure to thrive, Absent gallbladder, Submucous cleft hard palate, Feeding difficul... |
OMIM:617140 |
Fraser Syndrome 1 |
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Abnormal heart morphology, Abnormal small intestine morphology, Abnormality of the anus, Abnormal... |
OMIM:219000 |
Attenuated Familial Adenomatous Polyposis |
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Duodenal polyposis, Large intestinal polyposis, Adenomatous colonic polyposis, Adenocarcinoma of ... |
ORPHA:220460 |
Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
Acquired Central Diabetes Insipidus |
|
Weight loss |
ORPHA:95626 |
Familial Adenomatous Polyposis |
|
Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Stomach cancer, Duodenal adenocarcinoma... |
ORPHA:733 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Cheilitis, Recurrent pneumonia, Anoperineal fistula, Failure to thrive, Chapped lip, Abnormal ton... |
ORPHA:158668 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
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Pancreatic hypoplasia, Failure to thrive, Exocrine pancreatic insufficiency, Intestinal malrotati... |
ORPHA:2255 |
Heart Block, Congenital |
|
Atrioventricular block, Cardiomyopathy, Absent atrioventricular node, Mitral regurgitation, Atria... |
OMIM:234700 |
Proximal Renal Tubular Acidosis |
|
Vomiting, Diarrhea, Malabsorption, Failure to thrive |
ORPHA:47159 |
Meconium Ileus |
|
Microcolon, Chronic diarrhea, Meconium ileus |
OMIM:614665 |
Gerstmann-Straussler Disease |
|
Weight loss |
OMIM:137440 |
Nmda Receptor Encephalitis |
|
Neoplasm of the thymus, Vomiting, Diarrhea |
ORPHA:217253 |
Oculopharyngodistal Myopathy 1 |
|
High palate, Weight loss, Dysphagia |
OMIM:164310 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Weight loss |
ORPHA:747 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Reduced pancreatic beta cells, Weight loss, Pancreatic hypoplasia, Failure to thrive |
ORPHA:99885 |
Yunis-Varon Syndrome |
|
Absent nipple, Aspiration pneumonia, Premature loss of primary teeth, Polyhydramnios, Cryptorchid... |
OMIM:216340 |
Tsh-Secreting Pituitary Adenoma |
|
Vomiting, Nausea and vomiting, Weight loss |
ORPHA:91347 |
Cerebrotendinous Xanthomatosis |
|
Prolonged neonatal jaundice, Cholelithiasis, Chronic diarrhea |
ORPHA:909 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Cholelithiasis, Hepatic failure, Decreased liver function, Interstitial pneumonitis, Neoplasm of ... |
ORPHA:77293 |
Lafora Disease |
|
Recurrent aspiration pneumonia, Hepatic failure, Nasogastric tube feeding |
ORPHA:501 |
Goodpasture Syndrome |
|
Anemia, Weight loss, Glomerulonephritis |
OMIM:233450 |
Omphalocele Syndrome, Shprintzen-Goldberg Type |
|
Feeding difficulties in infancy, Gastroesophageal reflux, Anal atresia, Chronic diarrhea |
ORPHA:3164 |
Occipital Horn Syndrome |
|
Hiatus hernia, High palate, Chronic diarrhea |
OMIM:304150 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Vomiting, Failure to thrive, Weight loss, Acne, Feeding difficulties |
ORPHA:90794 |
Hutchinson-Gilford Progeria Syndrome |
|
Ankyloglossia, Severe failure to thrive, Weight loss, Osteoarthritis, High palate |
ORPHA:740 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Abnormal circulating interleukin concentration, Rheumatoid arthritis, Failure to thrive, Increase... |
ORPHA:85410 |