Immunodeficiency 14B, Autosomal Recessive |
|
Candida esophagitis, Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent ... |
OMIM:619281 |
Inflammatory Bowel Disease 11 |
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Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine |
OMIM:191390 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
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Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Colitis, Pyoderma, Crohn's disease |
OMIM:613148 |
Solitary Rectal Ulcer Syndrome |
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Anal fissure, Abdominal pain, Rectal prolapse, Bloody diarrhea, Hematochezia, Chronic constipatio... |
ORPHA:209964 |
Immunodeficiency 25 |
|
Recurrent herpes, Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Inc... |
OMIM:610163 |
Immunodeficiency 24 |
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Lymphopenia, Recurrent viral infections, Decreased CD4:CD8 ratio, Severe varicella zoster infecti... |
OMIM:615897 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
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Recurrent viral infections, Recurrent candida infections, Increased circulating IgG level, T lymp... |
ORPHA:169154 |
Immunodeficiency 64 With Lymphoproliferation |
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Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
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Elevated circulating C-reactive protein concentration, Leukocytosis, Ulcerative colitis, Bloody d... |
OMIM:619398 |
Immunodeficiency, Common Variable, 11 |
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Recurrent respiratory infections, Mucoid diarrhea, Increased circulating IgE level, Decreased pro... |
OMIM:615767 |
Angioedema, Hereditary, 3 |
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Intestinal edema, Pharyngeal edema, Facial edema, Angioedema, Episodic abdominal pain, Vomiting |
OMIM:610618 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
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Feeding difficulties in infancy, Increased T cell count, Increased circulating IgG level, Inflamm... |
ORPHA:98813 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
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Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Recurrent infection... |
OMIM:618982 |
Immunodeficiency 89 And Autoimmunity |
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Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... |
OMIM:619632 |
Cap Polyposis |
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Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co... |
ORPHA:160148 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
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Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Recurrent infection... |
OMIM:616452 |
Congenital Enterocyte Heparan Sulfate Deficiency |
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Edema, Abdominal distention, Diarrhea, Dehydration, Weight loss, Hematochezia, Protein-losing ent... |
ORPHA:103910 |
Vascular Hyalinosis |
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Subarachnoid hemorrhage, Malabsorption, Diarrhea, Hematochezia, Protein-losing enteropathy |
OMIM:277175 |
Immunodeficiency 11B With Atopic Dermatitis |
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Pneumonia, Eosinophilia, Increased circulating IgE level, Chronic diarrhea, Atopic dermatitis, Ul... |
OMIM:617638 |
Immunodeficiency, Common Variable, 7 |
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Recurrent respiratory infections, Recurrent urinary tract infections, Splenomegaly, Chronic (near... |
OMIM:614699 |
Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Lymphoproliferative disorder, Edema, Abdominal pain, Abnorma... |
ORPHA:263665 |
Immunodeficiency 60 And Autoimmunity |
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Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Chronic diarrhea, Bronchiectasis,... |
OMIM:618394 |
Eosinophilic Gastroenteritis |
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Abnormality of the gastrointestinal tract, Allergic rhinitis, Edema, Malabsorption, Abdominal pai... |
ORPHA:2070 |
Caspase 8 Deficiency |
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Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... |
OMIM:607271 |
Agammaglobulinemia 3, Autosomal Recessive |
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Diarrhea, Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent ... |
OMIM:613501 |
Agammaglobulinemia 6, Autosomal Recessive |
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Diarrhea, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacteria... |
OMIM:612692 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Skin rash,... |
OMIM:619924 |
Immunodeficiency 70 |
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Decreased circulating total IgG, Furuncle, Celiac disease, Decreased circulating antibody level, ... |
OMIM:618969 |
Immunodeficiency With Hyper-Igm, Type 1 |
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Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hemo... |
OMIM:308230 |
Immunodeficiency With Hyper-Igm, Type 2 |
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Recurrent respiratory infections, Impaired Ig class switch recombination, Lymphadenopathy, Recurr... |
OMIM:605258 |
Lymphoproliferative Syndrome, X-Linked, 2 |
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Recurrent respiratory infections, Pancytopenia, Hypertriglyceridemia, Acne, Recurrent skin infect... |
OMIM:300635 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, Pneumonia, Recurrent bacte... |
OMIM:300400 |
Secretory Component Deficiency |
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Chronic intestinal candidiasis, Intermittent diarrhea, Secretory IgA deficiency |
OMIM:269650 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
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Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
Immunodeficiency 37 |
|
Decreased circulating antibody level, Recurrent infections, Colitis, Decreased proportion of cent... |
OMIM:616098 |
Immunodeficiency 76 |
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Splenomegaly, Recurrent pneumonia, Chronic diarrhea, Lymphadenopathy, T lymphocytopenia, Colitis,... |
OMIM:619164 |
Immunodeficiency, Common Variable, 1 |
|
Impaired T cell function, Pneumonia, Splenomegaly, Diarrhea, Recurrent pneumonia, Bronchiectasis,... |
OMIM:607594 |
Agammaglobulinemia 4, Autosomal Recessive |
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Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infectio... |
OMIM:613502 |
Histiocytosis, Familial Lipochrome |
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Histiocytosis, Increased alpha-globulin, Increased circulating antibody level, Recurrent infections |
OMIM:235900 |
Immunodeficiency 97 With Autoinflammation |
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Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... |
OMIM:619802 |
Immunodeficiency 57 With Autoinflammation |
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Recurrent respiratory infections, Gastritis, Skin rash, Perianal abscess, Diarrhea, Bronchiectasi... |
OMIM:618108 |
Immunodeficiency 48 |
|
Recurrent respiratory infections, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Diarr... |
OMIM:269840 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
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Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, El... |
OMIM:615559 |
Hereditary Mixed Polyposis Syndrome |
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Abnormal bleeding, Endometrial carcinoma, Juvenile colonic polyposis, Rectal polyposis, Adenomato... |
ORPHA:157794 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Elevated circulating C... |
OMIM:618048 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Recurrent herpes, Anorexia, Recurrent candida infections, Recurrent abscess formation, Otitis med... |
ORPHA:169160 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
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Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, Recurrent upper... |
OMIM:613101 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
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Increased circulating IgG level, Iron deficiency anemia, Increased B cell count, Decreased lympho... |
OMIM:603909 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
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Recurrent oral herpes, Autoimmune hemolytic anemia, Persistent CMV viremia, Fluctuating splenomeg... |
OMIM:619220 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
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Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Minimal chan... |
OMIM:617006 |
Diarrhea 8, Secretory Sodium, Congenital |
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Polyhydramnios, Abdominal distention, Secretory diarrhea, Inflammation of the large intestine, El... |
OMIM:616868 |
Immunodeficiency 104 |
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Eczema, Pneumonia, Splenomegaly, Recurrent opportunistic infections, Diarrhea, Chronic mucocutane... |
OMIM:608971 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Villous atro... |
OMIM:209920 |
Juvenile Polyposis Syndrome |
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Neoplasm of the stomach, Abdominal pain, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hema... |
OMIM:174900 |
Immunodeficiency, Common Variable, 3 |
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Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease... |
OMIM:613493 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
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Neutrophilia, Skin rash, Elevated circulating C-reactive protein concentration, Increased circula... |
OMIM:617099 |
Immunodeficiency 95 |
|
Recurrent respiratory infections, Lymphopenia, Decreased circulating IgG3 level, Increased circul... |
OMIM:619773 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S... |
OMIM:615513 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... |
OMIM:606843 |
Agammaglobulinemia 2, Autosomal Recessive |
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Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... |
OMIM:613500 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, Increased circu... |
OMIM:601859 |
Angioedema, Hereditary, 1 |
|
Intestinal edema, Pharyngeal edema, Abdominal pain, Periorbital edema, Laryngeal edema, Diarrhea,... |
OMIM:106100 |
Lactose Intolerance, Adult Type |
|
Lactose intolerance, Flatulence, Abdominal pain, Decreased small intestinal mucosa lactase level,... |
OMIM:223100 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
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Lymphopenia, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Au... |
OMIM:616100 |
Masp2 Deficiency |
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Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
Immunoglobulin A Deficiency 2 |
|
Recurrent sinopulmonary infections, Abnormal lymphocyte morphology, Recurrent infection of the ga... |
OMIM:609529 |
Immunodeficiency 85 And Autoimmunity |
|
Recurrent respiratory infections, Villous atrophy, Lymphopenia, Eczema, Chronic diarrhea, Oligoar... |
OMIM:619510 |
Ficolin 3 Deficiency |
|
Necrotizing enterocolitis, Verrucae |
OMIM:613860 |
Inflammatory Bowel Disease 29 |
|
Ulcerative colitis, Crohn's disease |
OMIM:618077 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Sinusitis, Absence of lymph node germinal center, Recurrent... |
ORPHA:277 |
Hereditary Angioedema Type 1 |
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Tongue edema, Intestinal edema, Pharyngeal edema, Edema of the dorsum of hands, Abnormal soft pal... |
ORPHA:100050 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Recur... |
OMIM:619824 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Malabsorption, Anorexia, Abdominal pain, Diarrhea, Xerostomia, Hamartomatous polyposis,... |
OMIM:175500 |
Immunodeficiency, Common Variable, 2 |
|
Impaired T cell function, Follicular hyperplasia, Splenomegaly, Diarrhea, Recurrent pneumonia, Br... |
OMIM:240500 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
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Intestinal obstruction, Psoriasiform dermatitis, Jejunal atresia, Intestinal malrotation, Ileal a... |
OMIM:243150 |
Immunodeficiency 92 |
|
Recurrent oral herpes, Osteomyelitis, Persistent CMV viremia, Cholangitis, Pneumonia, BCGosis, Ch... |
OMIM:619652 |
Pgm3-Cdg |
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Recurrent viral infections, Abnormal CD4:CD8 ratio, Sepsis, Increased circulating IgG level, Leuk... |
ORPHA:443811 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Recurrent respiratory infections, Abnormal immunoglobulin level, Diarrhea, Chronic diarrhea, Recu... |
OMIM:614102 |
Congenital Factor V Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:326 |
Immunodeficiency, Common Variable, 14 |
|
Psoriasiform dermatitis, Chronic diarrhea, Decreased proportion of class-switched memory B cells,... |
OMIM:617765 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin... |
OMIM:619707 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-los... |
OMIM:619079 |
Immunodeficiency 15B |
|
Chronic diarrhea, Decreased circulating antibody level, Agammaglobulinemia, Recurrent infections,... |
OMIM:615592 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Recurrent skin infections, Recurrent upper res... |
OMIM:618944 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Meningitis, Diarrhea, Recurrent opportunistic infections, Arthritis... |
OMIM:601457 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Autoimmune hemolytic anemia... |
OMIM:618495 |
Immunodeficiency 27A |
|
Increased inflammatory response, Pneumonia, Anorexia, Splenomegaly, Diarrhea, Leukocytosis, Lymph... |
OMIM:209950 |
Neuroendocrine Tumor Of The Rectum |
|
Tricuspid regurgitation, Anorexia, Bowel urgency, Abdominal pain, Right ventricular failure, Lack... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Tricuspid regurgitation, Anorexia, Bowel urgency, Abdominal pain, Right ventricular failure, Lack... |
ORPHA:100082 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Abnormal large intestine morphology, Poor appet... |
ORPHA:2198 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Pure red cell aplasia, Sepsis, Recurrent candida infections, Inflammation of ... |
ORPHA:436159 |
Immunodeficiency 33 |
|
Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Recurrent bacterial infections... |
OMIM:300636 |
Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Severe varicella zoster infection, Sepsis, Leu... |
OMIM:301082 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Decreased serum iron, Abnorma... |
OMIM:212050 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Abnormal bleeding, Small intestinal polyposis, Duodenal polyposis, Edema, Rectal polyposis, Adeno... |
ORPHA:329971 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Epididymitis, Lymphadenopathy, Recurrent bacterial infect... |
OMIM:608106 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent herpes, Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infec... |
ORPHA:276 |
Immunoglobulin A Deficiency 1 |
|
Recurrent respiratory infections, Malabsorption, Recurrent infections, Recurrent infection of the... |
OMIM:137100 |
Immunodeficiency 62 |
|
Recurrent herpes, Autoimmune thrombocytopenia, Severe recurrent varicella, Decreased proportion o... |
OMIM:618459 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Inflammation o... |
OMIM:266600 |
Autoinflammation With Infantile Enterocolitis |
|
Villous atrophy, Pancytopenia, Skin rash, Elevated circulating C-reactive protein concentration, ... |
OMIM:616050 |
Hyper-Igd Syndrome |
|
Neutrophilia, Skin rash, Increased circulating IgA level, Abdominal pain, Lymphadenitis, Splenome... |
OMIM:260920 |
Wiskott-Aldrich Syndrome |
|
Recurrent herpes, Sepsis, Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, In... |
OMIM:301000 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl... |
OMIM:614878 |
Angiostrongyliasis |
|
Projectile vomiting, Poor appetite, Increased circulating IgA level, Abdominal pain, Unusual CNS ... |
ORPHA:74 |
Inflammatory Bowel Disease 3 |
|
Ulcerative colitis |
OMIM:604519 |
Inflammatory Bowel Disease 21 |
|
Ulcerative colitis |
OMIM:612354 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Generalized lymphadenopathy, Sepsis, Uveitis, Inflammation o... |
OMIM:614700 |
Secondary Intestinal Lymphangiectasia |
|
Edema, Lymphedema, Intestinal bleeding, Vomiting, Constrictive pericarditis, Abdominal colic, Int... |
ORPHA:90363 |
Immunodeficiency 36 With Lymphoproliferation |
|
Lymphopenia, Persistent CMV viremia, Splenomegaly, Recurrent upper respiratory tract infections, ... |
OMIM:616005 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level |
OMIM:314000 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Recurrent... |
OMIM:243700 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumocystis jirovecii pneumonia, Pneumonia, Diarrhea, Recurrent upper respiratory tract infectio... |
OMIM:614069 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, C... |
ORPHA:911 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can... |
OMIM:242870 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Enuresis, Irritability, Tics, ... |
ORPHA:66624 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent herpes, Sinusitis, Recurrent viral infections, Abnormal CD4:CD8 ratio, Acute otitis med... |
ORPHA:572 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Chronic diarrhea, Recurrent infections, Anemia, Leuko... |
OMIM:615285 |
Radiation Proctitis |
|
Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... |
ORPHA:70475 |
Turcot Syndrome With Polyposis |
|
Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Neoplasm of the central nervous system, Vomiti... |
ORPHA:99818 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Decreased proportion of CD3-pos... |
ORPHA:331206 |
Inflammatory Bowel Disease 13 |
|
Inflammation of the large intestine |
OMIM:612244 |
Inflammatory Bowel Disease (Crohn Disease) 19 |
|
Inflammation of the large intestine |
OMIM:612278 |
5-Oxoprolinase Deficiency |
|
Diarrhea, Vomiting, Enterocolitis, Abdominal pain |
OMIM:260005 |
Reticular Dysgenesis |
|
Recurrent respiratory infections, Skin rash, Abnormality of neutrophils, Malabsorption, Diarrhea,... |
ORPHA:33355 |
Immunodeficiency 46 |
|
Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Chronic diarrhea, Neutropenia,... |
OMIM:616740 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Giant cell hepatitis, Hematochezia, Prolonged prothrombin time, Hepatic failure, Fat malabsorptio... |
OMIM:214950 |
Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Eosinophilia, Inc... |
ORPHA:555905 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Cachexia, Abdominal pain, High, narrow palate, Re... |
ORPHA:79076 |
Immunodeficiency 44 |
|
Lymphopenia, Severe viral infection, Decreased circulating total IgM, Abnormal circulating IgG le... |
OMIM:616636 |
Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach |
|
Melena, Fundic gland polyposis, Gastric adenocarcinoma, Abdominal pain |
OMIM:619182 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Hypertriglyceridemia, Generalized lymphadenopathy, Decreased lymphocyte proliferati... |
OMIM:620282 |
Zollinger-Ellison Syndrome |
|
Pituitary corticotropic cell adenoma, Multiple lipomas, Zollinger-Ellison syndrome, Pituitary pro... |
ORPHA:913 |
Autoimmune Lymphoproliferative Syndrome |
|
Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Increased B cell count, Decreas... |
ORPHA:3261 |
Selective Igm Deficiency |
|
Recurrent herpes, Fasciitis, Recurrent staphylococcal infections, Severe varicella zoster infecti... |
ORPHA:331235 |
Activated Pi3K-Delta Syndrome |
|
Pneumonia, Severe varicella zoster infection, Splenomegaly, Recurrent tonsillitis, Bronchiectasis... |
ORPHA:397596 |
Trehalase Deficiency |
|
Diarrhea, Abdominal pain |
OMIM:612119 |
Immunodeficiency 69 |
|
Pancytopenia, Skin rash, Splenomegaly, Increased circulating ferritin concentration, BCGosis, Dia... |
OMIM:618963 |
Hermansky-Pudlak Syndrome 1 |
|
Prolonged bleeding time, Epistaxis, Abdominal pain, Hematochezia, Cardiomyopathy, Inflammation of... |
OMIM:203300 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Recurrent respiratory infections, Myositis, Lymphopenia, Skin rash, Elevated circulating C-reacti... |
OMIM:615934 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Recurrent viral infections, Partial IgA deficiency, Acute otitis media, T lymphocytopenia, Decrea... |
ORPHA:35078 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Recurrent respiratory infections, Increased circulating interleukin 6 concentration, Chronic gast... |
OMIM:301074 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Increased circulating IgA level, Abdominal p... |
ORPHA:343 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting |
OMIM:142623 |
Immunodeficiency 61 |
|
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... |
OMIM:300310 |
Immunodeficiency 43 |
|
Hypoproteinemia, Recurrent respiratory infections, Decreased specific antibody response to polysa... |
OMIM:241600 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Intestinal perfora... |
ORPHA:464321 |
Linear Iga Dermatosis |
|
Renal neoplasm, Inflammation of the large intestine, Epistaxis, Bladder neoplasm |
ORPHA:46488 |
Pseudomyxoma Peritonei |
|
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Weight loss, Inflammation of the lar... |
ORPHA:26790 |
Immunodeficiency 40 |
|
Rectal fistula, Severe varicella zoster infection, Recurrent pneumonia, Chronic diarrhea, Eosinop... |
OMIM:616433 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Aplastic anemia, Elevated circulating C-reactive protein concentration, Fulminant hepatitis, Hypo... |
OMIM:308240 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunisti... |
ORPHA:275 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Recurrent respiratory infections, Hemolytic anemia, Pancytopenia, Follicular hyperplasia, Autoimm... |
OMIM:614470 |
Immunodeficiency 50 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Eczema, Decreased circulati... |
OMIM:300988 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Villous atrophy, Recurrent viral infections, Severe varicella zoster infection, T lymphocytopenia... |
OMIM:606367 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Intestinal obstruction, Absent natura... |
OMIM:600802 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis, Obesity |
ORPHA:88643 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... |
OMIM:612567 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Vasculitis, Recurrent pneumonia, Bloody diarrhea, Hematochezia, Subconjunctival hemorr... |
OMIM:617718 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Diarrhea, Hepatic failure, Hepatitis, Hematochezia, Acholic stools, Prolonged prothrombin time, S... |
OMIM:613812 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Recurrent viral... |
ORPHA:217390 |
Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Increased circulating IgA level, Bilateral cryptorchidism, Pyloric stenosis, Recurre... |
OMIM:616395 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pancytopenia, Acne, Thrombocytosis, Elevated circulating C-reactive protein concentration, Microc... |
OMIM:604416 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Periodontitis, Neutropenia |
OMIM:162700 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Recurrent respiratory infections, Cervical lymphadenopathy, Decreased circulating total IgM, B ly... |
OMIM:618987 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration, Increased cir... |
OMIM:617388 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Increased circulating ... |
OMIM:247800 |
Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Edema, Hamartomatous polyposis, ... |
ORPHA:2929 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Esophageal stenosis, Decreased circulating antibody level, Leukopenia, Colitis, Bone marrow hypoc... |
OMIM:615190 |
Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:859 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level, BCGitis |
OMIM:619549 |
Immunoerythromyeloid Hypoplasia |
|
Erythroid hypoplasia, Decreased circulating IgG level |
OMIM:242880 |
Epidermolysis Bullosa Acquisita |
|
Inflammation of the large intestine, Abdominal pain |
ORPHA:46487 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level, Absence of lymph node germinal center |
OMIM:235550 |
Immunodeficiency 19 |
|
Recurrent respiratory infections, Chronic diarrhea, Severe viral infection, T lymphocytopenia, Ab... |
OMIM:615617 |
Agammaglobulinemia, X-Linked |
|
Sepsis, T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circ... |
OMIM:300755 |
Zygomycosis |
|
Fasciitis, Sinusitis, Periorbital edema, Acute infectious pneumonia, Unusual gastrointestinal inf... |
ORPHA:73263 |
Trehalase Deficiency |
|
Abdominal pain, Malabsorption, Abdominal distention, Diarrhea, Vomiting |
ORPHA:103909 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Increased circulating IgA level, Reduced natural killer cell activity, Seve... |
OMIM:300291 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Decreased circulating IgA level, Recurrent infections |
OMIM:146830 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Sinusitis, Decreased proportion of naive T cells, Sepsis, Recurrent candida infections, T lymphoc... |
ORPHA:83471 |
Wiskott-Aldrich Syndrome |
|
Sinusitis, Intracranial hemorrhage, Inflammation of the large intestine, Neoplasm, Conjunctivitis... |
ORPHA:906 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Decreased proportion of naive T cells, Elevated circulating C-reactive protein c... |
OMIM:619381 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Recurrent respiratory infections, Candida esophagitis, Eosinophilic infiltration of the esophagus... |
OMIM:618213 |
Immunodeficiency 22 |
|
Pericarditis, Abscess, Thrombocytopenia, Diarrhea, Recurrent upper respiratory tract infections, ... |
OMIM:615758 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Recurrent infections, Agammaglobulinemia, Post-vaccination polio, B lymphocytopenia, Recurrent ot... |
OMIM:616941 |
Combined Immunodeficiency, X-Linked |
|
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... |
OMIM:312863 |
Boutonneuse Fever |
|
Maculopapular exanthema, Skin rash, Abdominal pain, Cervical lymphadenopathy, Diarrhea, Lymphaden... |
ORPHA:83313 |
Vipoma |
|
Neoplasm of the pancreas, Nausea and vomiting, Follicular thyroid carcinoma, Anorexia, Malabsorpt... |
ORPHA:97282 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Recurrent bacterial infection... |
OMIM:202700 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Diarrhea, Recurrent... |
OMIM:150550 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent... |
ORPHA:540 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Chronic diarrhea, Bronchiectasis, Neutrope... |
OMIM:601495 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Skin rash, Neoplasm of ... |
ORPHA:44890 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Eczema, Abdominal pain, Congestive heart failure, Lymphadenitis, Chronic diarrhea, Dilated cardio... |
OMIM:615895 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Recurrent respiratory infections, Decreased circulating IgG level, B lymphocytopenia, T lymphocyt... |
OMIM:233650 |
Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Secretory diarrhea, Sepsis, Abnormal blood ion concentration, Tubulointerstitial nephri... |
ORPHA:37042 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Sinusitis, Severe B lymphocytopenia, Recurrent viral infections, Autoimmune thrombocytopenia, Chr... |
OMIM:102700 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... |
OMIM:153600 |
Dystonia 31 |
|
Abnormal posturing, Dysphagia |
OMIM:619565 |
Primary Intestinal Lymphangiectasia |
|
Lymphopenia, Increased stool alpha1-antitrypsin concentration, Abdominal pain, Cryptococcal menin... |
ORPHA:90362 |
Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... |
ORPHA:33110 |
Rabies |
|
Nausea and vomiting, Recurrent pharyngitis, Diarrhea, Anorexia |
ORPHA:770 |
Folate Malabsorption, Hereditary |
|
Folate-responsive megaloblastic anemia, Malabsorption, Feeding difficulties in infancy, Diarrhea,... |
OMIM:229050 |
Postinfectious Vasculitis |
|
Elevated circulating C-reactive protein concentration, Anorexia, Severe varicella zoster infectio... |
ORPHA:48435 |
Immunodeficiency 58 |
|
Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Chronic diarrhea, Bronchiec... |
OMIM:618131 |
Angioedema, Hereditary, 8 |
|
Diarrhea, Episodic vomiting, Abdominal pain |
OMIM:619367 |
Congenital Factor Xiii Deficiency |
|
Post-partum hemorrhage, Inflammation of the large intestine, Delayed onset bleeding, Ecchymosis, ... |
ORPHA:331 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Nausea, Anorexia, Poor appetite, Abno... |
ORPHA:2494 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior |
ORPHA:208441 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Eczema, Eosinophilia, Keratitis, Increased circulating IgE leve... |
OMIM:618523 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Villous atrophy, Abdominal colic, Hyperlipidemia, Diarrhea, Hypoalbuminemia, Protein-losing enter... |
OMIM:615863 |
Ganglioneuroma |
|
Gastrointestinal hemorrhage, Functional intestinal obstruction, Neoplasm of the adrenal gland, Ep... |
ORPHA:251992 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eczema, Eosinophilia,... |
OMIM:618282 |
Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
Trichohepatoenteric Syndrome 2 |
|
Villous atrophy, Small for gestational age, Diarrhea, Chronic diarrhea, Bloody diarrhea, Chronic ... |
OMIM:614602 |
Adult Idiopathic Neutropenia |
|
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Increased circula... |
ORPHA:2688 |
Hereditary Folate Malabsorption |
|
Nausea and vomiting, Recurrent respiratory infections, Recurrent urinary tract infections, Pancyt... |
ORPHA:90045 |
Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo... |
ORPHA:97286 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Persistent CMV viremia, Autoimmune thrombocytopenia... |
OMIM:617514 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Anal fissure, Eczema, Abscess, Perianal abscess, Lymphadeni... |
OMIM:618935 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Recurrent respiratory infections, Decreased circulating IgA level |
OMIM:137050 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyhydramnios, Pericardial effusion, Secretory diarrhea, Feeding difficulties, Hematochezia, Ana... |
OMIM:618183 |
Immunodeficiency 17 |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD... |
OMIM:615607 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Intestinal obstruction, Malabsorption, Abdominal pain, Diarrhea, Decreased circulating antibody l... |
OMIM:226300 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Lymphopenia, Recurrent skin infections, Recurrent upper respiratory tract infections, Recurrent p... |
OMIM:619752 |
Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Poor appetite, Abdomina... |
ORPHA:319218 |
Cyclic Neutropenia |
|
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Abdominal pain, Perianal abscess, Sever... |
ORPHA:2686 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... |
OMIM:613495 |
Neuroendocrine Tumor Of The Colon |
|
Tricuspid regurgitation, Anorexia, Bowel urgency, Abdominal pain, Right ventricular failure, Lack... |
ORPHA:100080 |
Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... |
OMIM:611521 |
Venous Malformations, Multiple Cutaneous And Mucosal |
|
Intestinal bleeding |
OMIM:600195 |
Kimura Disease |
|
Eosinophilia, Follicular hyperplasia, Increased circulating IgE level, Lymphadenopathy, Abnormal ... |
ORPHA:482 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn... |
ORPHA:229717 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Recurrent skin infections, Decreased circulating antibody level, Feeding difficulties, Hypocystin... |
OMIM:617744 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, Eosinophilia, Splenomegaly, Recurr... |
OMIM:602450 |
Obesity Due To Sim1 Deficiency |
|
Cognitive impairment, Hypotension, Attention deficit hyperactivity disorder, Memory impairment, P... |
ORPHA:369873 |
Primary Biliary Cholangitis |
|
Increased circulating IgA level, Conjugated hyperbilirubinemia, Celiac disease, Abdominal distent... |
ORPHA:186 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Skin rash, Anterior uveitis, Colitis, Ileal ulcer |
OMIM:616744 |
Immunodeficiency 96 |
|
Eczema, Increased proportion of gamma-delta T cells, Recurrent infections, Decreased circulating ... |
OMIM:619774 |
Sodium-Dependent Multivitamin Transporter Deficiency |
|
Decreased circulating IgG level, Episodic vomiting, Gastrostomy tube feeding in infancy |
OMIM:618973 |
Complement Component 4B Deficiency |
|
Decreased circulating complement C4b concentration, Chronic active hepatitis, Recurrent pneumonia... |
OMIM:614379 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Recurrent sinopulmonary infections, Absent specific antibody response, Decreased proportion of CD... |
OMIM:619846 |
Sandifer Syndrome |
|
Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Abnormal ... |
ORPHA:71272 |
Angioma, Hereditary Neurocutaneous |
|
Gastrointestinal hemorrhage, Hemangioma |
OMIM:106070 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i... |
OMIM:307200 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Generalized lymphadenopathy, Severe varicella zoster infection, Lymphadenitis, Sepsis, Leukopenia... |
OMIM:618986 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent viral infections, T lymphocytopenia, Recurrent abscess formation, Recurrent aspiration ... |
ORPHA:79124 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Eczema, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Feeding di... |
OMIM:617241 |
Simple Cryoglobulinemia |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Pericarditis, Membranopro... |
ORPHA:91139 |
Coproporphyria, Hereditary |
|
Increased fecal coproporphyrin III:coproporphyrin I ratio, Increased fecal coproporphyrin 3, Abdo... |
OMIM:121300 |
Immunodeficiency, Common Variable, 10 |
|
Decreased circulating IgG level, Recurrent oral herpes, Frequent Giardia lamblia infestation, Pso... |
OMIM:615577 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Pneumonia, Protruding tongue, Malabsorption, Diarrhea, Bronchiectasis, Macroglossia, I... |
OMIM:242860 |
Neuroendocrine Tumor Of Stomach |
|
Anorexia, Poor appetite, Lack of bowel sounds, Bloody diarrhea, Zollinger-Ellison syndrome, Atypi... |
ORPHA:100075 |
Whim Syndrome 1 |
|
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve... |
OMIM:193670 |
Congenital Sucrase-Isomaltase Deficiency |
|
Abdominal colic, Abdominal distention, Diarrhea, Vomiting |
ORPHA:35122 |
Lymphoproliferative Syndrome 3 |
|
Severe varicella zoster infection, Lymphadenopathy, Decreased circulating antibody level, Recurre... |
OMIM:618261 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Decreased lymph... |
OMIM:619313 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Neutropenia, Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobuli... |
OMIM:619705 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Elevated circulating C-reactive protein concentration, Abdominal pain, Diarrhea, Recurrent infect... |
OMIM:613960 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Eczema, Glomerulonephritis, Autoimmune thrombocytopenia, Eosinophilia, Thrombocy... |
OMIM:304790 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Recurrent herpes, Liver abscess, Cholangitis, Sepsis, Pulmonary tuberculosis, ... |
ORPHA:183675 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Recurrent respiratory infections, Erythema nodosum, Recurrent infections, Agammaglobulinemia, Neu... |
OMIM:615214 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Lymphopenia, Aplasia of the thymus, Recurrent viral infections, Recurrent bronchopulmonary infect... |
OMIM:242700 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Skin rash, Chilblains, Edema, Pneumonia, Hematemesis, Pericardial effusion, D... |
OMIM:615846 |
Plasma Clot Retraction Factor, Deficiency Of |
|
Gastrointestinal hemorrhage, Bruising susceptibility |
OMIM:262800 |
Immunodeficiency 56 |
|
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Cholangitis, Recurrent pneumo... |
OMIM:615207 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Dyspepsia, Abnormal small intestinal mucosa morphology, Malabsorption, Abdominal pain, Decreased ... |
ORPHA:103907 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia,... |
ORPHA:486 |
Multiple Myeloma |
|
Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating creatinine con... |
ORPHA:29073 |
Desmoid Tumor |
|
Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Malabsorption, Abdomin... |
ORPHA:873 |
Immunodeficiency 32B |
|
Recurrent respiratory infections, Sinusitis, Neutrophilia, Pneumonia, Eosinophilia, Splenomegaly,... |
OMIM:226990 |
Shigellosis |
|
Anorexia, Intestinal perforation, Sepsis, Abnormal blood ion concentration, Bloody diarrhea, Para... |
ORPHA:810 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the nose, Biliary tract neoplasm, Rectal prolapse, Gastrointestinal infarctions, Neop... |
ORPHA:2869 |
Igg4-Related Aortitis |
|
Increased inflammatory response, Intestinal obstruction, Elevated circulating C-reactive protein ... |
ORPHA:449400 |
Immunodeficiency 23 |
|
Recurrent staphylococcal infections, Severe varicella zoster infection, Increased circulating IgG... |
OMIM:615816 |
Amoebiasis Due To Entamoeba Histolytica |
|
Intestinal obstruction, Liver abscess, Lung abscess, Abdominal pain, Gastrointestinal dysmotility... |
ORPHA:67 |
Perry Syndrome |
|
Dementia, Hypotension, Depression |
ORPHA:178509 |
Immunodeficiency 11A |
|
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Decreased proportion of CD4+C... |
OMIM:615206 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Diarrhea, Vomiting |
OMIM:605911 |
Gastrointestinal Stromal Tumor |
|
Intestinal obstruction, Gastrointestinal stroma tumor, Neurofibroma, Constipation, Dysphagia |
OMIM:606764 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Hematochezia, Giant cell hepatitis |
ORPHA:79095 |
Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Glomerulonephritis, Abdominal pain, Splenomegaly, F... |
ORPHA:2137 |
20Q13.33 Microdeletion Syndrome |
|
Hematochezia, Small for gestational age, Failure to thrive in infancy, Oligohydramnios |
ORPHA:261311 |
Xq28 (MECP2) duplication |
|
Recurrent respiratory infections, Feeding difficulties in infancy, Constipation, Gastroesophageal... |
DECIPHER:45 |
Sucrase-Isomaltase Deficiency, Congenital |
|
Abdominal pain, Diarrhea, Malabsorption |
OMIM:222900 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Intestinal perforation, Rectal prolapse, Bloody diarrhea, Vomiting, Acute colitis, Hyponatremia, ... |
ORPHA:90038 |
Immunodeficiency 15A |
|
Recurrent respiratory infections, Decreased proportion of CD8-positive T cells, Decreased proport... |
OMIM:618204 |
Familial Hypofibrinogenemia |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Gingival bleeding |
ORPHA:101041 |
Familial Dysfibrinogenemia |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Gingival bleeding |
ORPHA:98881 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Feeding difficulties in infancy, Diarrhea, Abnormal intestine morphology, Vomiting |
OMIM:606528 |
Hirschsprung Disease |
|
Intestinal polyposis, Nausea and vomiting, Intestinal obstruction, Aganglionic megacolon, Abdomin... |
ORPHA:388 |
Omenn Syndrome |
|
Severe B lymphocytopenia, Pneumonia, Eosinophilia, Recurrent viral infections, Splenomegaly, Diar... |
OMIM:603554 |
Good Syndrome |
|
Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio... |
ORPHA:169105 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Pustule, Recurrent pneumonia, Secretory diarrhea, Increased circulating IgE level, Vomiting, Recu... |
OMIM:616069 |
Lymphoproliferative Syndrome 1 |
|
Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... |
OMIM:613011 |
Immunodeficiency 7 |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Severe varicella zoster infection,... |
OMIM:615387 |
Monosomy 13Q34 |
|
Epistaxis, Obesity, Hematochezia, Prolonged prothrombin time, Pulmonic stenosis |
ORPHA:96168 |
Acquired Von Willebrand Syndrome |
|
Gastrointestinal hemorrhage, Aortic regurgitation, Epistaxis, Hematological neoplasm, Gastrointes... |
ORPHA:99147 |
Pyoderma Gangrenosum |
|
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... |
ORPHA:48104 |
Mu-Heavy Chain Disease |
|
Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibody level, Anemia |
ORPHA:100024 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Failure to thrive, Malabsorption |
ORPHA:79301 |
Lymphangiectasia, Intestinal |
|
Decreased circulating IgG level, Malabsorption, Intestinal lymphangiectasia, Lymphopenia, Neonata... |
OMIM:152800 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Skin rash, Eosinophilia, Recurrent pneumonia, Increased circu... |
OMIM:147060 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Subarachnoid hemorrhage, Cephalohematoma, Melena,... |
ORPHA:853 |
Intestinal Dysmotility Syndrome |
|
Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d... |
OMIM:620045 |
Lactase Deficiency, Congenital |
|
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level |
OMIM:223000 |
Chylomicron Retention Disease |
|
Diarrhea, Malnutrition, Accumulation of lipid droplets in small-bowel enterocytes, Decreased LDL ... |
OMIM:246700 |
Cernunnos-Xlf Deficiency |
|
Recurrent viral infections, Thrombocytopenia, Decreased circulating antibody level, Recurrent bac... |
ORPHA:169079 |
Sweet Syndrome |
|
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Increased circulating inter... |
ORPHA:3243 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Maculopapular exanthema, Anorexia, Malabsorption, Hype... |
ORPHA:98850 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Autoimmune hemolytic anemia, Pneumocystis jirovecii pneumonia, Splenomegaly, Neutropenia, Recurre... |
OMIM:301078 |
Sepsis In Premature Infants |
|
Neonatal sepsis, Increased circulating interleukin 6 concentration, Disseminated viral infection,... |
ORPHA:90051 |
Tularemia |
|
Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Mediastinal lymphadenopathy, Cervical lymp... |
ORPHA:3392 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Recurrent herpes, Villous atrophy, T lymphocytopenia, Infectious encephalitis, Autoimmune thrombo... |
ORPHA:391487 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg... |
ORPHA:411696 |
Cholesteryl Ester Storage Disease |
|
Nausea and vomiting, Hypertriglyceridemia, Splenomegaly, Diarrhea, Esophageal varix, Hypercholest... |
ORPHA:75234 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti... |
OMIM:611926 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Anal stenosis, Neoplasm of the skeletal system, Abdominal pain, Rectal prolapse, Neoplasm of the ... |
ORPHA:424019 |
Thrombocytopenia 1 |
|
Eczema, Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet... |
OMIM:313900 |
Wild Type Abeta2M Amyloidosis |
|
Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Congestive heart failure, Macroglossi... |
ORPHA:85446 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Malabsorption, Thromb... |
ORPHA:47 |
Infection-Related Hemolytic Uremic Syndrome |
|
Increased circulating interleukin 6 concentration, Intestinal perforation, Secretory diarrhea, Bl... |
ORPHA:544482 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Villous atrophy, Malnutrition, Abnormal intestine morphology, Protracted diarrhea |
OMIM:251850 |
Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Diarrhea, Reticulocytopenia, Decreased cir... |
OMIM:275350 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Eleva... |
OMIM:256040 |
Dracunculiasis |
|
Nausea and vomiting, Recurrent cutaneous abscess formation, Skin rash, Diarrhea, Arthritis |
ORPHA:231 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Lymphopenia, Recurrent skin... |
OMIM:620210 |
Papa Syndrome |
|
Increased inflammatory response, Myositis, Acne, Pustule, Lymphadenopathy, Arthritis, Increased c... |
ORPHA:69126 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Juvenile gastrointestinal polyposis, Epistaxis, Telangiectasia, Hematochezia, Hamartomatous polyp... |
OMIM:175050 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Necrotizing enterocolitis, Polyhydramnios, Abdominal pain, Feeding difficulties, High palate, Vom... |
OMIM:616809 |
Brunner Syndrome |
|
Diarrhea |
OMIM:300615 |
Familial Colorectal Cancer Type X |
|
Neoplasm of the breast, Stomach cancer, Renal neoplasm, Pancreatic adenocarcinoma, Abdominal pain... |
ORPHA:440437 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, Esophageal stricture, Pancolitis, Inflammation of the large intestine, B lymphocyto... |
OMIM:620133 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent sk... |
OMIM:616576 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Enlarged ovaries, Skin rash, Pneumonia, Decreased circu... |
ORPHA:2298 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Villous atrophy, Duodenitis, Pustule, Increased circulating IgE level, Bloody diarrhea, Erythrode... |
OMIM:614328 |
Immunodeficiency 31C |
|
Villous atrophy, Protein-losing enteropathy, Disseminated histoplasmosis, Recurrent vulvovaginal ... |
OMIM:614162 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Eczema, Celiac disease, Increased circulating IgE level, Thyroiditis, Recurrent infections |
OMIM:618985 |
Diarrhea 6 |
|
Chronic diarrhea, Crohn's disease, Abdominal pain |
OMIM:614616 |
Complement Component 5 Deficiency |
|
Reduced hemolytic complement activity, Recurrent Neisserial infections, Intractable diarrhea, Gen... |
OMIM:609536 |
Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Anorexia, Splenomegaly, Thrombocytopenia, Lymphaden... |
ORPHA:507 |
Blue Rubber Bleb Nevus |
|
Prolonged bleeding time, Skin rash, Visceral angiomatosis, Cavernous hemangioma, Intestinal bleed... |
ORPHA:1059 |
Immunodeficiency, Common Variable, 13 |
|
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacte... |
OMIM:616873 |
Diarrhea 9 |
|
Villous atrophy, Diarrhea |
OMIM:618168 |
Refractory Celiac Disease |
|
Normocytic anemia, Villous atrophy, Inflammatory abnormality of the skin, Macrocytic anemia, Mala... |
ORPHA:398063 |
Schnitzler Syndrome |
|
Skin rash, Splenomegaly, Leukocytosis, Lymphadenopathy, Increased circulating IgM level, Arthriti... |
ORPHA:37748 |
Gastroesophageal Reflux |
|
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis |
OMIM:109350 |
Autoinflammatory-Pancytopenia Syndrome |
|
Pancytopenia, Membranoproliferative glomerulonephritis, Intestinal inflammation, Chilblains, Chro... |
OMIM:619858 |
Immunodeficiency 59 And Hypoglycemia |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:233600 |
Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Microvillus inclusions, Abdominal distention, Secretory diarrhea, Dependency on ... |
OMIM:619445 |
Lynch Syndrome |
|
Intestinal polyposis, Pancreatic adenocarcinoma, Abdominal pain, Neoplasm of the rectum, Basal ce... |
ORPHA:144 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Overweight, High, narrow palate, Feeding difficulties, Hematochezia, Chronic constipation, Recurr... |
OMIM:619575 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Xerostomia, Enlarged... |
ORPHA:79078 |
Netherton Syndrome |
|
Recurrent respiratory infections, Villous atrophy, Recurrent skin infections, Eczema, Allergic rh... |
OMIM:256500 |
Carney Triad |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Tachycardia, Anorexia, Abdominal pain, Gastroin... |
ORPHA:139411 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Edema, Portal hypertension, Diarrhea, Protein-losing enteropathy, Vo... |
ORPHA:79319 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Pancytopenia, Impaired T cell function, Elevated circulating creatine kinase concentration, Splen... |
OMIM:614576 |
Cog7-Cdg |
|
Elevated circulating creatine kinase concentration, Diarrhea, Hepatosplenomegaly, Feeding difficu... |
ORPHA:79333 |
Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio... |
ORPHA:2924 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Recurrent viral infections, Gastroesophageal reflux, Recurrent aspiration pneumonia, Psoriasiform... |
ORPHA:221139 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Increased circulating interleukin 8 concentration, Chronic diarrhea, Recurrent pneumonia, Bronchi... |
OMIM:301220 |
Multiple Endocrine Neoplasia, Type I |
|
Peptic ulcer, Pancreatic islet cell adenoma, Diarrhea, Pituitary adenoma, Insulinoma, Parathyroid... |
OMIM:131100 |
Mohr-Tranebjaerg Syndrome |
|
Abnormal posturing, Dysphagia |
OMIM:304700 |
Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Neoplas... |
ORPHA:543 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Intestinal obstruction, Portal hypertension, ... |
ORPHA:131 |
Diarrhea 11, Malabsorptive, Congenital |
|
Villous atrophy, Diarrhea |
OMIM:618662 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Poor appetite, Edema, Skin rash, Vasculitis, Weight... |
ORPHA:324964 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration... |
ORPHA:54251 |
Igg4-Related Submandibular Gland Disease |
|
Cholangitis, Increased circulating IgG4 level, Eosinophilia, Prostatitis, Increased circulating I... |
ORPHA:449432 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... |
OMIM:600376 |
Sapho Syndrome |
|
Psoriasiform dermatitis, Acne, Neoplasm of the skeletal system, Edema, Malabsorption, Abdominal p... |
ORPHA:793 |
Ige Responsiveness, Atopic |
|
Increased circulating IgE level, Eczema, Allergic rhinitis |
OMIM:147050 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Confusion, Myocardial infarction, Rig... |
ORPHA:97292 |
Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Anorexia, Malabsorption, Abdominal pain, Splenomegaly, Diarrhea, Furrowed t... |
ORPHA:2930 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Bloom Syndrome |
|
Recurrent herpes, Poor appetite, Severe varicella zoster infection, Uveitis, Gastroesophageal ref... |
ORPHA:125 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Abdominal pain, Diarrhea, Recurrent upper respiratory tract infections, Hyperammonemia, Vomiting,... |
OMIM:620137 |
Leukocyte Adhesion Deficiency, Type I |
|
Recurrent gram-negative bacterial infections, Osteomyelitis, Recurrent staphylococcal infections,... |
OMIM:116920 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 3 |
|
Gastrointestinal hemorrhage, Feeding difficulties |
OMIM:620368 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:300861 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Intractable diarrhea, Arthritis, Villous atrophy, Crypt hyperplasia |
OMIM:613217 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... |
OMIM:301081 |
Thymoma |
|
Myositis, Glomerulonephritis, Neoplasm of head and neck, Ulcerative colitis, Weight loss, Neoplas... |
ORPHA:99867 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Chronic myelomonocytic leuke... |
ORPHA:90280 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Leukocytosis, Increased circulating IgG level, Severe infection |
ORPHA:206594 |
Gist-Plus Syndrome |
|
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis |
OMIM:175510 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
Brucellosis |
|
Liver abscess, Elevated circulating C-reactive protein concentration, Anorexia, Knee osteoarthrit... |
ORPHA:1304 |
Familial Mediterranean Fever |
|
Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, Abdominal pain... |
OMIM:249100 |
Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, Membranoproliferative glomerulonephritis, Maculopapular exanthema, Neutrop... |
OMIM:619644 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... |
OMIM:187300 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Eosinophilia, Recurrent viral infections, Atopic dermatitis, Hep... |
OMIM:618999 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... |
OMIM:615237 |
Multiple Endocrine Neoplasia Type 1 |
|
Anorexia, Pituitary corticotropic cell adenoma, Angiofibromas, Pituitary gonadotropic cell adenom... |
ORPHA:652 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Pleural effusion, Gastrointestinal infarctions, Constrictive pericar... |
OMIM:602248 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Skin rash, Elevated circulating C-reactive protein concentration, Abdominal pain, Erythema nodosu... |
OMIM:611762 |
Esophagitis, Eosinophilic, 2 |
|
Failure to thrive, Vomiting, Esophagitis, Dysphagia |
OMIM:613412 |
Esophagitis, Eosinophilic, 1 |
|
Failure to thrive, Vomiting, Esophagitis, Dysphagia |
OMIM:610247 |
Bernard-Soulier Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Abnormal bleeding, Epistaxis, Prolonged ble... |
OMIM:231200 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Recurrent respiratory infections, Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumula... |
OMIM:618042 |
Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Skin rash, Elevated circulating creatine kinase concentration, Ele... |
OMIM:610377 |
Graft Versus Host Disease |
|
Fasciitis, Myositis, Gastrointestinal inflammation, Vomiting, Acute hepatitis, Nausea, Maculopapu... |
ORPHA:39812 |
Colonic Atresia |
|
Abdominal distention, Peptic ulcer, Colonic atresia, Duodenal stenosis |
ORPHA:1198 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Late onset atopic dermatitis, Increased circulating IgE level |
OMIM:221700 |
Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Lymphopenia, Sinusitis, Elevated circulating alpha-fetoprotein c... |
OMIM:208900 |
Immunodeficiency, Common Variable, 6 |
|
Recurrent respiratory infections, Glomerulonephritis, Autoimmune thrombocytopenia, Recurrent bact... |
OMIM:613496 |
Gastrocutaneous Syndrome |
|
Peptic ulcer, Hiatus hernia |
OMIM:137270 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Increased urinary porphobili... |
ORPHA:100924 |
Giant platelet syndrome with thrombocytopenia |
|
Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged bleeding after dental extraction |
OMIM:137560 |
Diarrhea 4, Malabsorptive, Congenital |
|
Diarrhea, Vomiting |
OMIM:610370 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Intermittent diarrhea, Feeding difficulties |
OMIM:620270 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Abnormality of the gastrointestinal tract, Small intestinal dysmotility, Poor appetite, Abdominal... |
ORPHA:298 |
Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Abdominal pain, Diarrhea, Microangiopathic hemolytic anemia, Decreased serum cre... |
ORPHA:54057 |
Adult-Onset Nemaline Myopathy |
|
Paraproteinemia, Neuromuscular dysphagia, Feeding difficulties, High palate, Mildly elevated crea... |
ORPHA:171442 |
Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Severe varice... |
ORPHA:36234 |
Legionnaires Disease |
|
Hyponatremia, Nausea and vomiting, Pericarditis, Anorexia, Abdominal pain, Recurrent pharyngitis,... |
ORPHA:549 |
Syndromic Diarrhea |
|
Lymphopenia, Villous atrophy, Gastritis, Increased mean platelet volume, Splenomegaly, Recurrent ... |
ORPHA:84064 |
Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Eczema, Abdominal pain, Celiac disease, Abdominal distention, Diarrhea, Thyroi... |
OMIM:212750 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Abnormal lymphocyte proliferation, Recurrent viral infection... |
OMIM:619573 |
Immune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti... |
ORPHA:3002 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Malnutrition, Feeding difficulties, Gastroesophageal reflux, Intermittent diarrhea, Recurrent asp... |
OMIM:619971 |
Bile Acid Malabsorption, Primary, 1 |
|
Increased fecal bile acid, Fat malabsorption, Chronic diarrhea, Steatorrhea |
OMIM:613291 |
Immunodeficiency 47 |
|
Accessory spleen, Normocytic anemia, Decreased circulating copper concentration, Splenomegaly, Ch... |
OMIM:300972 |
Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Dyskeratosis Congenita, Digenic |
|
Recurrent infections, Decreased circulating total IgM, Gastroesophageal reflux, Oral leukoplakia,... |
OMIM:620040 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow... |
OMIM:278000 |
Relapsing Fever |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Abdominal pain, Thrombocytop... |
ORPHA:91547 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Duodenal ulcer, Cachexia, Malabsorption, Chronic diarrhea, Steatorrhea |
ORPHA:3217 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Abdominal pain, Abnormality of the spleen, Diarrhea, Malnutrition, L... |
ORPHA:79456 |
Immunodeficiency 67 |
|
Transient neutropenia, Liver abscess, Recurrent staphylococcal infections, Increased circulating ... |
OMIM:607676 |
Serotonin Syndrome |
|
Restlessness, Tachycardia, Confusion, Irritability, Hypertension, Agitation, Hypotension, Mental ... |
ORPHA:43116 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vii |
|
Diarrhea, Constipation |
OMIM:615548 |
Glanzmann Thrombasthenia |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged... |
ORPHA:849 |
Lassa Fever |
|
Nausea and vomiting, Abdominal pain, Diarrhea, Sepsis, Increased circulating IgM level, Conjuncti... |
ORPHA:99824 |
Combined Malonic And Methylmalonic Aciduria |
|
Diarrhea, Vomiting |
OMIM:614265 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin rash, Po... |
ORPHA:542323 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Intestinal obstruction, Fasciitis, Myositis, Pericarditis, Elevated circulating C-reactive protei... |
ORPHA:32960 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Acute myeloid leukemia, Tachycardia, Peptic ulcer, Myelodysplasia, Hematological neoplasm, Abdomi... |
ORPHA:98849 |
Diarrhea 13 |
|
Hypoalbuminemia, Secretory diarrhea, Vomiting |
OMIM:620357 |
Retinal Dystrophy And Microvillus Inclusion Disease |
|
Chronic diarrhea, Recurrent lower respiratory tract infections, Recurrent upper respiratory tract... |
OMIM:619446 |
Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania... |
OMIM:273800 |
Insulin Autoimmune Syndrome |
|
Arthralgia/arthritis, Increased circulating antibody level |
ORPHA:411593 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Recurrent respiratory infections, Decreased circulating IgG level, Decreased circulating total Ig... |
ORPHA:2643 |
Eosinophilia, Familial |
|
Eosinophilia, Recurrent bronchitis, Thrombocytopenia, Leukocytosis, Anemia |
OMIM:131400 |
Congenital Factor Xi Deficiency |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Joint hemorrhage, Menorrhagia, Prolong... |
ORPHA:329 |
Hemophilia A |
|
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Intracranial hemorrhage, Joint swelling... |
ORPHA:98878 |
American Trypanosomiasis |
|
Aganglionic megacolon, Skin rash, Abnormal large intestine physiology, Abdominal pain, Splenomega... |
ORPHA:3386 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Aortic regurgitation, Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Infl... |
OMIM:106300 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Congestive heart fa... |
ORPHA:3077 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Granulomatous cholangitis, Ulcerative colitis, Increased circulating IgG level, Inflammation of t... |
ORPHA:562639 |
Alg12-Cdg |
|
Sepsis, Hypoalbuminemia, Gastroesophageal reflux, Hypocholesterolemia, Hyponatremia, Recurrent ea... |
ORPHA:79324 |
Pediatric Systemic Lupus Erythematosus |
|
Abnormality of the gastrointestinal tract, Lymphopenia, Myositis, Skin rash, Abdominal pain, Disc... |
ORPHA:93552 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Abnormal posturing, Weight loss, Aspiration pneumonia, Dysphagia |
ORPHA:216866 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Recurrent respiratory infections, Pancytopenia, Gastrostomy tube feeding in infancy, Hypersplenis... |
OMIM:613385 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Feeding difficulties, Gastroesophageal reflux, Pulmonary arterial hypertension, Abnormal posturin... |
OMIM:614857 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased HDL cholesterol concentration, Intestinal perforation, Tubulointerstitial nephritis, Ga... |
ORPHA:85450 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of inadequate pro... |
ORPHA:75564 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... |
ORPHA:3282 |
Typhoid |
|
Gastrointestinal hemorrhage, Skin rash, Abdominal pain, Splenomegaly, Diarrhea, Constipation, Inf... |
ORPHA:99745 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Myositis, Hypertriglyceridemia, Sinusitis, Skin rash, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:617591 |
Alg1-Cdg |
|
Abnormality of the gastrointestinal tract, Chronic diarrhea, Sepsis, Recurrent infections, Protei... |
ORPHA:79327 |
Pancreatic Colipase Deficiency |
|
Megaloblastic anemia, Chronic diarrhea, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine ... |
ORPHA:309108 |
Hemophilia B |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Osteoarthritis, Joint hemorrhage, Persistent blee... |
OMIM:306900 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Skin rash, Abdominal pain, Diarrhea, Leukopenia... |
ORPHA:99828 |
Mercury Poisoning |
|
Tachycardia, Confusion, Anorexia, Hypertension, Hypotension, Acute kidney injury |
ORPHA:330021 |
Congenital Toxoplasmosis |
|
Thrombocytopenia, Diarrhea, Anemia, Lymphadenopathy |
ORPHA:858 |
Cog4-Cdg |
|
Neonatal sepsis, Fatal liver failure in infancy, Recurrent upper respiratory tract infections, He... |
ORPHA:263501 |
Avian Influenza |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:454836 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Edema, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Keratoconjunctivitis sicca, C... |
ORPHA:309031 |
Glycogen Storage Disease Ixb |
|
Splenomegaly, Diarrhea, Hyperuricemia |
OMIM:261750 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Normocytic anemia, Anorexia, Malabsorption, Abnormality of neutrophi... |
ORPHA:33226 |
Pachydermoperiostosis |
|
Gastrointestinal hemorrhage, Osteomyelitis, Acne, Peptic ulcer, Edema, Malabsorption, Seborrheic ... |
ORPHA:2796 |
Immunodeficiency 13 |
|
Lymphopenia, Recurrent shingles, Recurrent upper respiratory tract infections, Recurrent pneumoni... |
OMIM:615518 |
Necrotizing Enterocolitis |
|
Neonatal sepsis, Hyponatremia, Abdominal distention, Diarrhea, Peritonitis, Leukocytosis, Bloody ... |
ORPHA:391673 |
Severe Hemophilia A |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr... |
ORPHA:169802 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Giant cell hepatitis, Conjugated hyperbilirubinemia, Splenomegaly, Diarrhea, Acholic stools, Stea... |
OMIM:607765 |
Idiopathic Hypereosinophilic Syndrome |
|
Cholangitis, Pulmonary embolism, Feeding difficulties in infancy, Intracranial hemorrhage, Coliti... |
ORPHA:3260 |
Cocaine Intoxication |
|
Prolonged QRS complex, Myocardial infarction, Intestinal perforation, Bloody diarrhea, Tubulointe... |
ORPHA:90068 |
Moderate Hemophilia A |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Epidural hemorrhage, Joint hemorrhage, Prolonged ... |
ORPHA:169805 |
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Recurrent respiratory infections, Gastritis, Megaloblastic anemia, Abnormal erythrocyte morpholog... |
ORPHA:2575 |
Multiple Endocrine Neoplasia Type 4 |
|
Pituitary corticotropic cell adenoma, Angiofibromas, Zollinger-Ellison syndrome, Pituitary prolac... |
ORPHA:276152 |
Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... |
ORPHA:327 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Colonic diverticula, Elevated circulating deoxyuridine concentration, Intestinal pseudo-obstructi... |
OMIM:603041 |
Inflammatory Pseudotumor Of The Liver |
|
Elevated circulating alpha-fetoprotein concentration, Abdominal pain, Increased hepatitis B virus... |
ORPHA:90003 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Seborrheic dermatitis, Agammaglobulinemia, Recurrent bacterial infections, Absent circulating B c... |
OMIM:619693 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Pyloric stenosis, Splen... |
OMIM:613327 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Cryptorchidism, Diarrhea, Abdominal distention, Elevated circulating creatinine concentration, Th... |
OMIM:608104 |
Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Thrombocytopenia, Recurrent pneumonia, Sepsis, Recurrent bac... |
OMIM:617475 |
Tick-Borne Encephalitis |
|
Elevated circulating C-reactive protein concentration, Anorexia, Thrombocytopenia, Leukocytosis, ... |
ORPHA:297 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Intestinal fistula, Nausea and vomiting, Telangiectasia of the skin,... |
ORPHA:679 |
Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
Immunodeficiency 21 |
|
Osteomyelitis, Aplastic anemia, Recurrent viral infections, Recurrent fungal infections, Recurren... |
OMIM:614172 |
Enteric Anendocrinosis |
|
Diarrhea, Vomiting, Malabsorption |
ORPHA:83620 |
Hemorrhagic Fever-Renal Syndrome |
|
Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis, Vomiti... |
ORPHA:340 |
Zika Virus Disease |
|
Maculopapular exanthema, Skin rash, Thrombocytopenia, Increased circulating IgM level, Arthritis,... |
ORPHA:448237 |
Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tachycardia, Gastrointestinal stro... |
OMIM:115310 |
Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Increased circulating IgE level |
OMIM:144200 |
Periodic Fever, Familial, Autosomal Dominant |
|
Gastrointestinal hemorrhage, Myositis, Maculopapular exanthema, Skin rash, Abdominal pain, Perior... |
OMIM:142680 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Poor appetite, Hypoalbuminemia, Hyperthreoninemia, Abnor... |
ORPHA:247598 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia, Splenomegaly, Diarrhea, Hepatocellular carcinoma, Fat malabsorption |
OMIM:601847 |
Hypocomplementemic Urticarial Vasculitis |
|
Nausea and vomiting, Episcleritis, Skin rash, Abdominal pain, Splenomegaly, Diarrhea, Uveitis, Ly... |
ORPHA:36412 |
Von Willebrand Disease, Type 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... |
OMIM:193400 |
Kaposi Sarcoma |
|
Abnormality of the gastrointestinal tract, Recurrent herpes, Generalized lymphadenopathy, Skin ra... |
ORPHA:33276 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Anorexia, Abnormal left ventricular function, Conjunctivitis, Cholecystitis,... |
ORPHA:99827 |
Adult-Onset Still Disease |
|
Pericarditis, Generalized lymphadenopathy, Skin rash, Neutrophilia, Elevated circulating C-reacti... |
ORPHA:829 |
Omenn Syndrome |
|
Pneumonia, Eosinophilia, Splenomegaly, Leukocytosis, Chronic diarrhea, Sepsis, Thyroiditis, Lymph... |
ORPHA:39041 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, T... |
ORPHA:470 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Elevated circulating creatine kinase concentration, Poor appetite, Diarrhea, Recurrent infections... |
ORPHA:352447 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Splenomegaly, Diarrhea, Hyperbilirubinemia, Steatorrhea, Hepatic failure |
OMIM:235555 |
Blue Rubber Bleb Nevus |
|
Rectal prolapse, Intestinal bleeding, Hemangioma, Volvulus, Intussusception, Cerebellar medullobl... |
OMIM:112200 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Lymphadenitis, Decreased retinol-binding p... |
ORPHA:449395 |
Prothrombin Deficiency, Congenital |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... |
OMIM:613679 |
Chromosome 19P13.13 Deletion Syndrome |
|
Abdominal pain, Diarrhea, Feeding difficulties, Constipation, Vomiting |
OMIM:613638 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Necrotizing enterocolitis, Sudden cardiac death, Reduced left ventricular ejection fraction, Gast... |
OMIM:201475 |
Riddle Syndrome |
|
Generalized lymphadenopathy, Pneumonia, Elevated circulating alpha-fetoprotein concentration, Rec... |
ORPHA:420741 |
Hyperlipoproteinemia, Type Id |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Pancreatitis, Decrea... |
OMIM:615947 |
Sickle Cell Anemia |
|
Pigment gallstones, Hemolytic anemia, Osteomyelitis, Reticulocytosis, Microcytic anemia, Abnormal... |
ORPHA:232 |
Enterokinase Deficiency |
|
Diarrhea, Hypoproteinemia |
OMIM:226200 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Recurrent respiratory infections, Splenomegaly, Chronic diarrhea, Feeding difficulties, Hepatic f... |
OMIM:613489 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Acute hyperammonemia, Poor appetite, Reye syndrome-like episodes, Hyperglutaminemia, Diarrhea, Hy... |
ORPHA:927 |
Rift Valley Fever |
|
Skin rash, Anorexia, Hematemesis, Thrombocytopenia, Severe viral infection, Hepatitis, Uveitis, M... |
ORPHA:319251 |
Gastrocutaneous Syndrome |
|
Peptic ulcer, Hiatus hernia |
ORPHA:2069 |
Galactosemia I |
|
Hemolytic anemia, Diarrhea, Increased level of galactitol in plasma, Vomiting, Hypergalactosemia,... |
OMIM:230400 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Decreased circulating complement factor B concentration, Thrombocytopenia, Hyper... |
OMIM:235400 |
Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Portal hypertension, Lymphedema, Abdominal pain... |
ORPHA:1414 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Edema, Pulmonary embolism, Congestive heart... |
ORPHA:90308 |
Myopathy, Myofibrillar, 1 |
|
Diarrhea, Constipation |
OMIM:601419 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Recurrent respiratory infections, Feeding difficulties in infancy, Diarrhea, Hyperk... |
OMIM:264350 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Gastrointestinal hemorrhage, Esophageal varix, Portal hypertension, Retinal telangiectasia |
OMIM:617341 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
Malonyl-Coa Decarboxylase Deficiency |
|
Abdominal pain, Diarrhea, Chronic constipation, Constipation, Vomiting |
OMIM:248360 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Impaired T cell function, Poor appetite, Splenomegaly, Diarrhea, Recurrent candida infections, De... |
OMIM:201100 |
Hyaline Fibromatosis Syndrome |
|
Diarrhea, Recurrent infections |
OMIM:228600 |
Maculopapular Cutaneous Mastocytosis |
|
Diarrhea, Vomiting, Nausea, Abdominal pain |
ORPHA:79457 |
Sandhoff Disease, Juvenile Form |
|
Diarrhea, Constipation, Dysphagia |
ORPHA:309162 |
Parathyroid Carcinoma |
|
Nausea and vomiting, Pancreatic adenocarcinoma, Peptic ulcer, Renal hamartoma, Testicular neoplas... |
ORPHA:143 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Melena, Oral cavity bleeding, Post-partum hemorrhage, Gingival bleeding |
ORPHA:98870 |
Combined Deficiency Of Factor V And Factor Viii |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:35909 |
Polymyositis |
|
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... |
ORPHA:732 |
Cold Agglutinin Disease |
|
Nausea and vomiting, Hemolytic anemia, Splenomegaly, Diarrhea, Lymphadenopathy |
ORPHA:56425 |
Tempi Syndrome |
|
Increased circulating IgG level, Increased hematocrit, Polycythemia |
ORPHA:284227 |
Tyrosinemia, Type I |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Failure to thrive, Hepatic failure, Paralytic... |
OMIM:276700 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Depression, Pollakisuria, Hypertension, Dementia, Compulsive behaviors, Dysphagia, Hypotension, M... |
ORPHA:93256 |
Chylomicron Retention Disease |
|
Hypertriglyceridemia, Acanthocytosis, Abdominal distention, Diarrhea, Vomiting, Steatorrhea, Fat ... |
ORPHA:71 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Recurrent respiratory infections, Hemolytic anemia, Reticulocytosis, Anisocytosis, Diarrhea, Leuk... |
OMIM:618278 |
Nijmegen Breakage Syndrome |
|
Recurrent urinary tract infections, Anal stenosis, Sinusitis, Dysgammaglobulinemia, Autoimmune he... |
OMIM:251260 |
Caffey Disease |
|
Feeding difficulties in infancy, Increased circulating antibody level |
ORPHA:1310 |
Prolidase Deficiency |
|
Eczema, Splenomegaly, Thrombocytopenia, Recurrent pneumonia, Crusting erythematous dermatitis, Re... |
OMIM:170100 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Abnormality of the gastrointestinal tract, Elevated circulating C-reactive protein concentration,... |
ORPHA:2902 |
Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Polyhydramnios, Abdominal pa... |
OMIM:155310 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Diarrhea, Anteriorly ... |
OMIM:615710 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Nausea and vomiting, Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, L... |
ORPHA:3226 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Thrombocytopenia, Diarrhea, Anorexia, Megaloblastic anemia |
ORPHA:49827 |
Ppoma |
|
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Intestinal obstruction, Nausea and vomitin... |
ORPHA:97278 |
Glucose/Galactose Malabsorption |
|
Hyperactive bowel sounds, Abdominal distention, Chronic diarrhea, Malabsorption |
OMIM:606824 |
Reactive Arthritis |
|
Aortic regurgitation, Pericarditis, Osteomyelitis, Abdominal pain, Pustule, Diarrhea, Weight loss... |
ORPHA:29207 |
Aa Amyloidosis |
|
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome, Renal amyloid... |
ORPHA:85445 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Hypoparathyroidism, Nausea and vomiting, Normocytic anemia, Macrocytic anemia, Hype... |
ORPHA:199299 |
Cinca Syndrome |
|
Skin rash, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Uve... |
OMIM:607115 |
Immunodeficiency 55 |
|
Absent natural killer cells, Recurrent skin infections, Eczema, Diarrhea, Lymphadenopathy, Recurr... |
OMIM:617827 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Conjugated hyperbilirubinemia, Splenomegaly, Diarrhea, Cholelithiasis, Fat malabsorption |
OMIM:211600 |
Grfoma |
|
Anorexia, Poor appetite, Neoplasm of the thymus, Lack of bowel sounds, Zollinger-Ellison syndrome... |
ORPHA:97261 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Osteomyelitis, Cardiac shunt, Edema, Pulmonary embolism, Right ventricular failure, Increased pul... |
ORPHA:70591 |
Mogs-Cdg |
|
Decreased circulating antibody level, Hydrocele testis, Decreased circulating total IgM, Hepatosp... |
ORPHA:79330 |
Erythema Elevatum Diutinum |
|
Skin rash, Increased circulating antibody level |
ORPHA:90000 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Myelodysplasia, Pulmonary embolism, Port... |
ORPHA:729 |
Whipple Disease |
|
Hyponatremia, Gastrointestinal hemorrhage, Myositis, Pericarditis, Anorexia, Malabsorption, Abdom... |
ORPHA:3452 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Recurrent respiratory infections, Psoriasiform dermatitis, Recurrent skin infections, Eosinophili... |
OMIM:615508 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red bloo... |
OMIM:263300 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Diarrhea, Vomiting, Feeding difficulties |
OMIM:612075 |
Common Variable Immunodeficiency |
|
Failure to thrive in infancy, Pneumonia, Gastrointestinal stroma tumor, Vasculitis, Lymphoma, Bro... |
ORPHA:1572 |
Rapadilino Syndrome |
|
High, narrow palate, Diarrhea, Cleft palate, Feeding difficulties, High palate |
OMIM:266280 |
Mucoepithelial Dysplasia, Hereditary |
|
Pneumonia, Chronic diarrhea, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Furrowed ton... |
OMIM:158310 |
Mirage Syndrome |
|
Hyponatremia, Recurrent urinary tract infections, Cryptorchidism, Esophageal stricture, Chronic d... |
OMIM:617053 |
Familial Pancreatic Carcinoma |
|
Nausea and vomiting, Pancreatic adenocarcinoma, Intestinal pseudo-obstruction, Functional intesti... |
ORPHA:1333 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Abnormal T cell morphology, Decreased circulating IgA level |
OMIM:215250 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Abnormal eosinophil morphology, Uveitis, Hypoalbuminemia, Neoplasm of the ... |
ORPHA:171 |
Igg4-Related Pachymeningitis |
|
Sinusitis, Eosinophilia, Elevated circulating C-reactive protein concentration, Increased circula... |
ORPHA:449427 |
Central Diabetes Insipidus |
|
Hyponatremia, Diarrhea, Anorexia, Nausea and vomiting |
ORPHA:178029 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Head titubation, Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula, Dysph... |
OMIM:619708 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Anorexia, Odynophagia, Uveitis, Bloody diarrh... |
ORPHA:99826 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Nausea and vomiting, Pancreatic adenocarcinoma, Peptic ulcer, Renal hamartoma, Testicular neoplas... |
ORPHA:99880 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Villous atrophy, Diarrhea, Vomiting, Hypoalbuminemia, Protein-losing enteropathy, Steatorrhea, He... |
OMIM:602579 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Malabsorption, Splenomegaly, Diarrhea, Bile duct proliferation, Increased serum bile acid concent... |
OMIM:602347 |
Peeling Skin Syndrome 1 |
|
Increased circulating IgE level, Eosinophilia, Erythroderma |
OMIM:270300 |
Methionine Malabsorption Syndrome |
|
Diarrhea, Positive ferric chloride test |
OMIM:250900 |
Rat-Bite Fever |
|
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Diarrhea, Pust... |
ORPHA:31205 |
Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Pericarditis, Sinusitis, Episcleritis, Epistaxi... |
ORPHA:727 |
Aspergillosis |
|
Sinusitis, Osteomyelitis, Pneumonia, Eosinophilia, Keratitis, Increased circulating IgE level, Un... |
ORPHA:1163 |
Paroxysmal Cold Hemoglobinuria |
|
Nausea and vomiting, Recurrent respiratory infections, Autoimmune hemolytic anemia, Diarrhea, Coo... |
ORPHA:90035 |
Cutaneous Mastocytoma |
|
Maculopapular exanthema, Abdominal pain, Diarrhea, Lymphadenopathy, Vomiting, Nausea |
ORPHA:79455 |
C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Paraproteinemia, Elevated circulating creatinine concen... |
ORPHA:329918 |
Hereditary Central Diabetes Insipidus |
|
Diarrhea, Vomiting |
ORPHA:30925 |
Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Pulmonary embolism, Retinal telangiectasia, Cholecystitis, Intestina... |
ORPHA:774 |
Combined Malonic And Methylmalonic Acidemia |
|
Dicarboxylic acidemia, Methylmalonic acidemia, Vomiting, Intermittent diarrhea, Nasogastric tube ... |
ORPHA:289504 |
Snakebite Envenomation |
|
Tachycardia, Epistaxis, Myocardial infarction, Neuromuscular dysphagia, Intracranial hemorrhage, ... |
ORPHA:449285 |
Familial Mediterranean Fever |
|
Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Pericarditis, Skin rash, Mala... |
ORPHA:342 |
Caroli Syndrome |
|
Abnormal bleeding, Cholangiocarcinoma, Cholangitis, Portal hypertension, Abdominal pain, Hemateme... |
ORPHA:480520 |
Somatostatinoma |
|
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Intestinal obstruction, Nausea and vomitin... |
ORPHA:97283 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Dicarboxylic aciduria, Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature... |
OMIM:212138 |
Coccidioidomycosis |
|
Abnormality of the spleen, Increased circulating IgG level, Morbilliform rash, Abscess, Mediastin... |
ORPHA:228123 |
Cystic Echinococcosis |
|
Abdominal symptom, Invasive parasitic infection, Unusual infection, Abnormality of the testis siz... |
ORPHA:400 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Titubation, Dysphagia, Abnormal posturing, Poor suck, Nasogastric tube feeding |
ORPHA:225147 |
Kindler Epidermolysis Bullosa |
|
Recurrent skin infections, Esophageal stricture, Neoplasm of the urethra, Cheilitis, Squamous cel... |
ORPHA:2908 |
Lead Poisoning |
|
Decreased HDL cholesterol concentration, Skin rash, Anorexia, Abdominal pain, Abdominal distentio... |
ORPHA:330015 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Thyroiditis, Chronic neutropenia, Hyperlipidemia, Diarrhea, Enterocolitis, ... |
ORPHA:79259 |
Hyperprolinemia Type 2 |
|
Abdominal pain, Diarrhea, Hyperprolinemia, Feeding difficulties, Hyperglycinemia, Dysphagia, Hype... |
ORPHA:79101 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Villous atrophy, Pericarditis, Feeding difficulties in infancy, Diarrhea, Steatorrhea, Hypoalbumi... |
OMIM:212065 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Recurrent urinary tract infections, Anorexia, Abdominal pain, Abdominal distention, Leukocytosis,... |
ORPHA:51890 |
Smith-Kingsmore Syndrome |
|
Cryptorchidism, Feeding difficulties, Thrombocytopenia, Decreased circulating IgA level |
OMIM:616638 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Lactose intolerance, Cryptorchidism, Protuberant abdomen, Intestinal polyp, Decreased circulating... |
ORPHA:457485 |
Adenocarcinoma Of The Anal Canal |
|
Anal stenosis, Anal canal adenocarcinoma, Neoplasm of the skeletal system, Abdominal pain, Rectal... |
ORPHA:424016 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Cryptorchidism, Recurrent upper respiratory tract infections, Recurrent pneumonia, Feeding diffic... |
OMIM:607143 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment |
ORPHA:309246 |
Netherton Syndrome |
|
Recurrent respiratory infections, Skin rash, Eczema, Malabsorption, Increased circulating IgE lev... |
ORPHA:634 |
Classic Galactosemia |
|
Abnormal erythrocyte enzyme level, Cryptorchidism, Diarrhea, Sepsis, Feeding difficulties, Vomiti... |
ORPHA:79239 |
Inhalational Anthrax |
|
Internal hemorrhage, Confusion, Hypotension |
ORPHA:247257 |
Attrv30M Amyloidosis |
|
Diarrhea, Constipation |
ORPHA:85447 |
Immunodeficiency 68 |
|
Recurrent skin infections, Abscess, Lymphadenitis, Sepsis, T lymphocytopenia, B lymphocytopenia, ... |
OMIM:612260 |
Immunodeficiency 9 |
|
Chronic diarrhea, BCGitis, Recurrent infections, Hypoplasia of the thymus, Recurrent aphthous sto... |
OMIM:612782 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Abdominal pain, Rectal prolapse, Multiple gastric polyps, Breast carcin... |
OMIM:175200 |
Spontaneous Periodic Hypothermia |
|
Nausea and vomiting, Diarrhea, Skin rash |
ORPHA:29822 |
Pneumocystosis |
|
Pneumocystis jirovecii pneumonia, Abnormal neutrophil count, Acute infectious pneumonia, Intersti... |
ORPHA:723 |
Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Increased circulating IgG4 level, Abnormal pituitary gland morphology, Thyro... |
ORPHA:64744 |
Glycogen Storage Disease Ib |
|
Pancreatic fibrosis, Splenomegaly, Hyperlipidemia, Neutropenia, Gout, Recurrent bacterial infecti... |
OMIM:232220 |
Bleeding Disorder, Platelet-Type, 12 |
|
Epistaxis, Intestinal bleeding, Menorrhagia, Bruising susceptibility, Joint hemorrhage |
OMIM:605735 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Renal insufficiency, Tachycardia, Atrial fibrillation, Confusion, C... |
ORPHA:31826 |
Plague |
|
Glossitis, Chapped lip, Edema, Anorexia, Lymphadenitis, Bloody diarrhea, Acute infectious pneumon... |
ORPHA:707 |
Yellow Fever |
|
Increased circulating interleukin 6 concentration, Acute pancreatitis, Skin rash, Elevated circul... |
ORPHA:99829 |
Adult Intestinal Botulism |
|
Diarrhea |
ORPHA:178487 |
Satoyoshi Syndrome |
|
Diarrhea, Mildly elevated creatine kinase, Malabsorption |
OMIM:600705 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Chronic diarrhea, Chronic decreased circulating IgG1, Recurrent infections, Panhypopituitarism, D... |
OMIM:300953 |
Afibrinogenemia, Congenital |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleeding following circ... |
OMIM:202400 |
Tremor-Nystagmus-Duodenal Ulcer Syndrome |
|
Duodenal ulcer |
ORPHA:3350 |
Benign Recurrent Intrahepatic Cholestasis |
|
Nausea and vomiting, Anorexia, Abdominal pain, Chronic diarrhea, Acholic stools, Hepatocellular c... |
ORPHA:65682 |
Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Unilateral cryptorchidism, Cryptorchidism, Chronic diarrhea, Feeding difficulties, Chronic consti... |
OMIM:617788 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Recurrent skin infections, Splenomegaly, Leukocytosis, Sepsis, Abno... |
OMIM:612840 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Diarrhea, Hyperkalemia, Feeding difficulties, Increased circulating renin level, Vo... |
OMIM:177735 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Diarrhea, Iron deficiency anemia, Gastroesophageal reflux, High palate, Nasogastric tube feeding |
OMIM:607906 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Chronic diarrhea, Hypoalbuminemia, Pancreatitis, Microcytic anemia |
OMIM:618805 |
Duodenal Ulcer Due To Antral G-Cell Hyperfunction |
|
Duodenal ulcer |
OMIM:126840 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated circulating C-reactive protein concentration, Leukopenia, Hashimoto thyroiditis, Abdomin... |
OMIM:615688 |
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Joint hemorrhage, Prolonged bleeding... |
ORPHA:465 |
Lujo Hemorrhagic Fever |
|
Maculopapular exanthema, Skin rash, Elevated circulating C-reactive protein concentration, Myocar... |
ORPHA:319213 |
B4Galt1-Cdg |
|
Inflammatory abnormality of the skin, Elevated circulating creatine kinase concentration, Splenom... |
ORPHA:79332 |
Dubowitz Syndrome |
|
Aplastic anemia, Eczema, Feeding difficulties in infancy, Cryptorchidism, Velopharyngeal insuffic... |
OMIM:223370 |
Chronic Myeloid Leukemia |
|
Poor appetite, Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative di... |
ORPHA:521 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Multiple lipomas, Peptic ulcer, Pancreatitis |
OMIM:145981 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Mycobacterium abscessus abscessus infection, Diarrhea, Bronchiectasis, Lymphadenopathy, Dissemina... |
ORPHA:411703 |
Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra... |
ORPHA:231226 |
Pancreatoblastoma |
|
Elevated maternal serum alpha-fetoprotein, Abdominal pain, Abdominal distention, Diarrhea, Abnorm... |
ORPHA:677 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Abnormal erythrocyte en... |
ORPHA:264580 |
Corticosteroid-Binding Globulin Deficiency |
|
Hypertension, Hypotension, Decreased urinary potassium |
OMIM:611489 |
Yao Syndrome |
|
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Abdominal pain, Diarrhea, Xerostom... |
OMIM:617321 |
Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Hemolytic anemia, Diarrhea, Abdominal pain |
OMIM:615399 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Abnormal posturing, Dysphagia |
OMIM:128100 |
Glucagonoma |
|
Anorexia, Poor appetite, Lack of bowel sounds, Episodic abdominal pain, Constipation, Adrenocorti... |
ORPHA:97280 |
O'Sullivan-Mcleod Syndrome |
|
Increased circulating antibody level, Eosinophilia |
ORPHA:99965 |
Bone Dysplasia, Lethal Holmgren Type |
|
Nausea and vomiting, Recurrent respiratory infections, Diarrhea, Anemia |
ORPHA:1842 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Chronic diarrhea, Elevated circulating creatine kinase concentration, Nausea, Recurrent infections |
OMIM:615084 |
Neuroendocrine Neoplasm Of Appendix |
|
Nausea and vomiting, Abdominal colic, Mechanical ileus, Functional intestinal obstruction, Chroni... |
ORPHA:100079 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Feeding difficulties, Bloody diarrhea |
OMIM:615119 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Esophageal stricture, Chronic diarrhea, Leukopenia, Bone marrow hy... |
OMIM:613989 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomegaly, Diarrhea,... |
ORPHA:79240 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Malabsorption, Asplenia, Iridoc... |
OMIM:240300 |
Duodenal Ulcer, Hyperpepsinogenemic I |
|
Duodenal ulcer |
OMIM:126850 |
Bernard-Soulier Syndrome |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Spontaneous, recurrent epistaxis, Hematemesis, Pr... |
ORPHA:274 |
Alg8-Cdg |
|
Hyponatremia, Abnormality of the gastrointestinal tract, Thrombocytopenia, Diarrhea, Feeding diff... |
ORPHA:79325 |
Systemic Capillary Leak Syndrome |
|
Pericarditis, Abdominal pain, Myocarditis, Diarrhea, Leukocytosis, Pancreatitis |
ORPHA:188 |
Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Portal hypertension, Esophageal varix, Prolonged ... |
ORPHA:64743 |
Gaucher Disease Type 1 |
|
Pancytopenia, Anorexia, Abdominal pain, Hypersplenism, Splenomegaly, Osteoarthritis, Thrombocytop... |
ORPHA:77259 |
Listeriosis |
|
Liver abscess, Abnormal cellular immune system morphology, Sepsis, Granulomatosis, Vomiting, Conj... |
ORPHA:533 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... |
ORPHA:101096 |
Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... |
OMIM:607364 |
Radiculoneuropathy, Fatal Neonatal |
|
Chronic diarrhea |
OMIM:266250 |
Osteopetrosis, Autosomal Recessive 7 |
|
Splenomegaly, Recurrent pneumonia, Anemia, Decreased circulating total IgM, Decreased circulating... |
OMIM:612301 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Anorexia, Abnormality of the spleen, Abnormality of the parathy... |
ORPHA:2552 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Abnormality of the gastrointestinal tract, Nausea and vomiting, Intestinal malrotation, Polyhydra... |
ORPHA:2241 |
Q Fever |
|
Pericarditis, Osteomyelitis, Maculopapular exanthema, Unusual infection, Anorexia, Pneumonia, Spl... |
ORPHA:781 |
Sarcoidosis, Susceptibility To, 1 |
|
Abnormality of T cell physiology, Generalized lymphadenopathy, Pancytopenia, Anorexia, Mediastina... |
OMIM:181000 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Diarrhea, Hyperammonemia, Decreased plasma to... |
ORPHA:42 |
Proprotein Convertase 1/3 Deficiency |
|
Villous atrophy, Diarrhea, Malabsorption |
OMIM:600955 |
Congenital Disorder Of Glycosylation, Type Id |
|
Villous atrophy, Diarrhea, High palate, Vomiting, Bifid uvula |
OMIM:601110 |
Igg4-Related Ophthalmic Disease |
|
Sinusitis, Cholangitis, Elevated circulating C-reactive protein concentration, Increased circulat... |
ORPHA:449563 |
Carcinoid Syndrome |
|
Nausea and vomiting, Chronic noninfectious lymphadenopathy, Lack of bowel sounds, Protracted diar... |
ORPHA:100093 |
Acquired Hypertrichosis Lanuginosa |
|
Poor appetite, Chronic diarrhea, Lymphadenopathy, Ovarian neoplasm, Macroglossia, Glossitis |
ORPHA:2221 |
Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
Porphyria, Acute Intermittent |
|
Abdominal pain, Diarrhea, Paralytic ileus, Constipation, Vomiting, Hepatocellular carcinoma, Nausea |
OMIM:176000 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Increased circulating ferritin concentration, Diarrhea, Atopic dermatitis, Hypochromic microcytic... |
ORPHA:3240 |
Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Diarrhea, Interstitial pneumonitis, Vomiting, Granulocytope... |
ORPHA:454831 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Lymphopenia, Severe B lymphocytopenia, Cryptorchidism, Exocrine pancreatic insu... |
OMIM:620005 |
Hydroxykynureninuria |
|
Renal tubular acidosis, Tachycardia, Abnormal repetitive mannerisms, Hypotension |
ORPHA:79155 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Villous atrophy, Pancytopenia, Pancreatic fibrosis, Refractory sideroblasti... |
OMIM:557000 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Recurrent respiratory infections, Osteomyelitis, Skin rash, Eczema, Eosinophilia, Increased circu... |
ORPHA:2314 |
Interstitial Lung Disease 2 |
|
Increased circulating antibody level |
OMIM:178500 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Autoimmune hemolytic anemia, Psoriasiform dermatitis, Intestinal malrotation, Jejunoileal ulcerat... |
ORPHA:436252 |
Mucopolysaccharidosis-Plus Syndrome |
|
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Splenomegaly, Recurrent ... |
OMIM:617303 |
Lysosomal Acid Lipase Deficiency |
|
Bone-marrow foam cells, Vacuolated lymphocytes, Vomiting, Hyponatremia, Abdominal pain, Hepatospl... |
ORPHA:275761 |
Botulism |
|
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia |
ORPHA:1267 |
Glucose-Galactose Malabsorption |
|
Hypercalcemia, Abdominal distention, Diarrhea, Malnutrition, Hyperactive bowel sounds, Vomiting, ... |
ORPHA:35710 |
Huntington Disease-Like 1 |
|
Abnormal posturing, Weight loss |
ORPHA:157941 |
Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Superficial dermal perivascular inflammatory infiltrate, Epistaxis, ... |
ORPHA:324636 |
Medullary Thyroid Carcinoma |
|
Diarrhea, Primary hyperparathyroidism, Lymphadenopathy, Pheochromocytoma, Dysphagia, Nodular goiter |
ORPHA:1332 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Diarrhea, Neutropenia, Steatorrhea, Recurrent infections, High palate, Hyperec... |
OMIM:617941 |
Beta-Thalassemia Major |
|
Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra... |
ORPHA:231214 |
Erythermalgia, Primary |
|
Keratoconjunctivitis sicca, Diarrhea, Xerostomia, Constipation |
OMIM:133020 |
Glutaric Aciduria Iii |
|
Diarrhea, Vomiting, Goiter |
OMIM:231690 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
Lysinuric Protein Intolerance |
|
Hypolysinemia, Protein avoidance, Splenomegaly, Increased circulating ferritin concentration, Dia... |
OMIM:222700 |
Lissencephaly, X-Linked, 2 |
|
Feeding difficulties in infancy, Diarrhea, High palate, Decreased testicular size |
OMIM:300215 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Increased circulating IgE level |
ORPHA:89843 |
Congenital Disorder Of Glycosylation, Type Iib |
|
Feeding difficulties in infancy, High palate, Decreased circulating IgA level, Decreased circulat... |
OMIM:606056 |
Dermatomyositis |
|
Pericarditis, Sinus tachycardia, Telangiectasia of the skin, Edema, Myocardial infarction, Gastro... |
ORPHA:221 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Duodenal ulcer |
OMIM:190310 |
Refractory Anemia With Excess Blasts |
|
Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti... |
ORPHA:86839 |
Leukocyte Adhesion Deficiency Type Ii |
|
Chronic lymphocytic meningitis, Recurrent urinary tract infections, Severe periodontitis, Neutrop... |
ORPHA:99843 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Impaired n... |
OMIM:608203 |
Cryoglobulinemic Vasculitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Abdominal pain, Vasculitis, Arthritis, Gastrointest... |
ORPHA:91138 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... |
OMIM:612422 |
Foodborne Botulism |
|
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia |
ORPHA:228371 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Pericarditis, Myositis, Gastritis, Skin ras... |
ORPHA:809 |
Methanol Poisoning |
|
Hyperlipidemia, Vomiting, Diarrhea, Abdominal pain |
ORPHA:31825 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Abdominal pain, Encopresis, Diarrhea, Constipation, Gastroesophageal reflux, Dysphagia |
ORPHA:589821 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Myoglobinuria, Tachycardia, Hypotension |
OMIM:145600 |
Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Diarrhea, Recurrent upper respiratory tract infections |
OMIM:252920 |
Intestinal Botulism |
|
Nausea and vomiting, Diarrhea, Xerostomia, Dysphagia |
ORPHA:178481 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Gastrointestinal hemorrhage, Arrhythmia, Bruising susceptibility |
ORPHA:230839 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated circulating creatine kinase concentration, Diarrhea, Hyperammonemia, Feeding difficultie... |
OMIM:255120 |
Al Amyloidosis |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Increased circulating NT-... |
ORPHA:85443 |
Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Persistent fetal circulation, Edema, Polyhydramnios, Pericardial eff... |
ORPHA:363705 |
Fumarase Deficiency |
|
Necrotizing enterocolitis, Failure to thrive, Polyhydramnios, Cutaneous leiomyoma, High palate, H... |
OMIM:606812 |
Colchicine Poisoning |
|
Hyponatremia, Myocarditis, Diarrhea, Leukocytosis, Abnormal blood ion concentration, Hypophosphat... |
ORPHA:31824 |
Renal Tubular Dysgenesis |
|
Renotubular dysgenesis, Abnormality of the urinary system, Anuria, Hypotension |
OMIM:267430 |
Carnitine Deficiency, Systemic Primary |
|
Diarrhea, Vomiting, Elevated circulating creatine kinase concentration, Hyperammonemia |
OMIM:212140 |
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Edema, Raynaud phenomenon, Punctate vasculitis skin lesions, Retinal... |
OMIM:192315 |
Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Recurrent respiratory infections, Acute hepatic failure, Nausea and ... |
ORPHA:36426 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Recurrent urinary tract infections, Anorexia, Cryptorchidism, Diarrhea, Hyperkalemi... |
ORPHA:361 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Recurrent respiratory infections, Defective production of NFKB1-dependent cytokines, Splenomegaly... |
OMIM:612132 |
Mucopolysaccharidosis, Type Iiic |
|
Splenomegaly, Diarrhea, Recurrent upper respiratory tract infections, Dysphagia |
OMIM:252930 |
Mucopolysaccharidosis, Type Iiia |
|
Splenomegaly, Diarrhea, Recurrent upper respiratory tract infections |
OMIM:252900 |
Biotinidase Deficiency |
|
Skin rash, Recurrent skin infections, Seborrheic dermatitis, Feeding difficulties in infancy, Spl... |
OMIM:253260 |
Bloom Syndrome |
|
Elevated hemoglobin A1c, Cryptorchidism, Recurrent upper respiratory tract infections, Bronchiect... |
OMIM:210900 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Mediastinal lymphadenopathy, Abdominal distention, Chronic diarrhea, Leukocytosis, Bronchiectasis... |
OMIM:620233 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Acanthocytosis, Abnorma... |
ORPHA:96180 |
Rasmussen Subacute Encephalitis |
|
Decreased circulating total IgA |
ORPHA:1929 |
Gitelman Syndrome |
|
Prolonged QT interval, Salt craving, Polyuria, Renal magnesium wasting, Ventricular tachycardia, ... |
OMIM:263800 |
Bleeding Disorder, Platelet-Type, 17 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Abnormal bleeding, Epistaxis, Prolonged ble... |
OMIM:187900 |
Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Feeding difficulties in infancy, Abdominal distention, Hypoalbuminemia, Vo... |
OMIM:613070 |
Hyperzincemia With Functional Zinc Depletion |
|
Increased serum zinc, Diarrhea, Skin rash |
OMIM:601979 |
Kawasaki Disease |
|
Nausea and vomiting, Pericarditis, Skin rash, Abdominal pain, Recurrent pharyngitis, Cervical lym... |
ORPHA:2331 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Abdominal pain, Splenomegaly, Leukocytosis, Unconjugated hyperbili... |
OMIM:300908 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... |
ORPHA:247585 |
Bile Acid Malabsorption, Primary, 2 |
|
Chronic diarrhea, Steatorrhea, Decreased circulating chenodeoxycholic acid concentration |
OMIM:619481 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Tricuspid regurgitation, Recurrent myoglobinuria, Cerebral hemorrhage, Dilated cardiomyopathy, Mi... |
OMIM:620300 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Myositis, Chronic active hepatitis, Xerostomia, Tubulointerstitial nephritis, ... |
ORPHA:289390 |
Glycogen Storage Disease Ic |
|
Stomatitis, Spider hemangioma, Chronic pancreatitis, Gout, Hypertension, Inflammation of the larg... |
OMIM:232240 |
Microvillus Inclusion Disease |
|
Abdominal distention, Villous atrophy, Abnormal small intestinal villus morphology, Diarrhea |
ORPHA:2290 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Recurrent infections due to aspiration, Feeding difficulties in infancy, Diarrhea, Elevated circu... |
OMIM:223900 |
Dpm1-Cdg |
|
Elevated circulating creatine kinase concentration, High, narrow palate, Diarrhea, Hepatosplenome... |
ORPHA:79322 |
Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Anorexia, Malabsorption, Abdominal pai... |
ORPHA:79430 |
Late-Onset Familial Hypoaldosteronism |
|
Renal sodium wasting, Orthostatic hypotension, Hypotension |
ORPHA:556037 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hypotension, Renal salt wasting |
OMIM:203400 |
Meconium Ileus |
|
Chronic diarrhea, Microcolon, Meconium ileus |
OMIM:614665 |
Pediatric-Onset Graves Disease |
|
Nausea and vomiting, Episcleritis, Keratitis, Splenomegaly, Diarrhea, Neutropenia in presence of ... |
ORPHA:525731 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, High, narrow palate, Retinal h... |
OMIM:177850 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Dicarboxylic aciduria, Ventricular tachycardia, Oliguria, Irritability, Cardiomyopathy, Hypotensi... |
ORPHA:159 |
Blue Diaper Syndrome |
|
Diarrhea, Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
Beta-Ketothiolase Deficiency |
|
Anorexia, Diarrhea, Leukocytosis, Hyperammonemia, Vomiting, Hyperuricemia, Thrombocytosis |
ORPHA:134 |
Inhalational Botulism |
|
Nausea and vomiting, Diarrhea, Xerostomia, Constipation |
ORPHA:254504 |
Okur-Chung Neurodevelopmental Syndrome |
|
Protruding tongue, Decreased circulating antibody level, Feeding difficulties, High palate, Const... |
OMIM:617062 |
Nipah Virus Disease |
|
Hypotension, Anorexia |
ORPHA:99825 |
Behçet Disease |
|
Myositis, Myocardial infarction, Anorexia, Pulmonary embolism, Infectious encephalitis, Acne, Abd... |
ORPHA:117 |
Familial Hypoaldosteronism |
|
Orthostatic hypotension, Decreased urinary potassium, Renal salt wasting, Hypovolemia, Proximal r... |
ORPHA:427 |
Alveolar Echinococcosis |
|
Liver abscess, Cholangitis, Eosinophilia, Abdominal pain, Pancreatic cysts, Abnormal spleen morph... |
ORPHA:284 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Pustule, Leukocytosis, Sepsi... |
ORPHA:247353 |
Psoriasis 14, Pustular |
|
Psoriasiform dermatitis, Neutrophilia, Cholangitis, Elevated circulating C-reactive protein conce... |
OMIM:614204 |
Japanese Encephalitis |
|
Hyponatremia, Neutrophilia, Anorexia, Abdominal pain, Diarrhea, Increased circulating IgM level, ... |
ORPHA:79139 |
Erythroderma Desquamativum |
|
Diarrhea, Seborrheic dermatitis |
ORPHA:314 |
Meningococcal Meningitis |
|
Shock, Renal insufficiency, Anorexia, Irritability, Hypotension |
ORPHA:33475 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Chronic noninfectious lymphadenopathy, Elevated circulating alpha-fetoprotein concentration, Anor... |
ORPHA:100085 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Splenomegaly, Diarrhea |
OMIM:619849 |
Middle Ear Neuroendocrine Tumor |
|
Chronic diarrhea, Chronic noninfectious lymphadenopathy |
ORPHA:100084 |
Adiposis Dolorosa |
|
Recurrent skin infections, Diarrhea, Xerostomia, Arthritis, Constipation |
ORPHA:36397 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Hyperglutamatemia, Low plasma citrulline, Chronic diarrhea, Hyperammonemia, Hyperprolinemia, Feed... |
OMIM:620358 |
Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Sudden cardiac death, Ma... |
ORPHA:537 |
Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Increased circulating antibody level, Hypoalbuminemia, ... |
ORPHA:86816 |
Developmental And Epileptic Encephalopathy 50 |
|
Acanthocytosis, Diarrhea, Schistocytosis, Anisopoikilocytosis, Hyperammonemia, Dysphagia, Anemia |
OMIM:616457 |
Trichothiodystrophy 1, Photosensitive |
|
Intestinal obstruction, Malabsorption, Chronic diarrhea, Recurrent infections, Keratoconjunctivit... |
OMIM:601675 |
Hereditary Fructose Intolerance |
|
Abdominal pain, Abdominal distention, Diarrhea, Hypermagnesemia, Vomiting, Hyperuricemia, Constip... |
ORPHA:469 |
Neuroleptic Malignant Syndrome |
|
Tachycardia, Proteinuria, Urinary incontinence, Pulmonary embolism, Hypertension, Agitation, Brad... |
ORPHA:94093 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Multiple lipomas, Peptic ulcer, Pancreatitis |
OMIM:600740 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Acute pancreatitis, Anorexia, Reye syndrome-like episodes, Diarrhea, Leukocytosis, Hyperammonemia... |
ORPHA:20 |
Vici Syndrome |
|
Recurrent respiratory infections, Lymphopenia, Elevated circulating creatine kinase concentration... |
OMIM:242840 |
Mednik Syndrome |
|
Volvulus, Jejunal atresia, Microcolon, Diarrhea |
OMIM:609313 |
Subcorneal Pustular Dermatosis |
|
Pustule, Increased circulating antibody level, Rheumatoid arthritis |
ORPHA:48377 |
Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Abdominal pain, Se... |
OMIM:619377 |
Immunoglobulin A Vasculitis |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Episcleritis, Skin rash, Edema, Anorexia, Abdom... |
ORPHA:761 |
Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Myositis, Palpebral edema, Angina... |
ORPHA:93672 |
Early-Onset Familial Hypoaldosteronism |
|
Renal sodium wasting, Orthostatic hypotension, Hypotension |
ORPHA:556030 |
Gaisböck Syndrome |
|
Angina pectoris, Peptic ulcer, Myocardial infarction, Overweight, Hypovolemia, Obesity, Gout, Ele... |
ORPHA:90041 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Increased circulating fr... |
ORPHA:71212 |
Mucopolysaccharidosis, Type Ii |
|
Intestinal pseudo-obstruction, Splenomegaly, Diarrhea, Recurrent pneumonia, Hepatosplenomegaly, M... |
OMIM:309900 |
Autosomal Dominant Hypocalcemia |
|
Congestive heart failure, Hypercalciuria, Depression, Nephrocalcinosis, Hypotension, Emotional la... |
ORPHA:428 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... |
ORPHA:66529 |
Ileal Neuroendocrine Tumor |
|
Intestinal fistula, Functional intestinal obstruction, Gastrointestinal obstruction, Lymphadenopa... |
ORPHA:100078 |
Cystic Fibrosis |
|
Meconium ileus, Recurrent bronchopulmonary infections, Rectal prolapse, Recurrent pneumonia, Ileu... |
OMIM:219700 |
Poliomyelitis |
|
Confusion, Anorexia, Irritability, Hypovolemic shock, Hypertension, Agitation, Hypotension, Dysph... |
ORPHA:2912 |
Granulomatosis With Polyangiitis |
|
Sinusitis, Periorbital edema, Otitis media, Chronic otitis media, Abdominal pain, Vasculitis, Pro... |
ORPHA:900 |
Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Osteomyelitis, Diarrhea, Osteoarthritis, Constipation, Septic arthritis |
OMIM:608654 |
Scleromyxedema |
|
Abnormality of the gastrointestinal tract, Elevated circulating creatine kinase concentration, Hy... |
ORPHA:167635 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Intestinal malrotation, Portal hypertension, Hepatic failure, Microcolon, Oligohydramnios |
OMIM:619431 |
Malakoplakia |
|
Inflammatory abnormality of the skin, Skin rash, Follicular hyperplasia, Orchitis, Abdominal pain... |
ORPHA:556 |
Staphylococcal Necrotizing Pneumonia |
|
Shock, Addictive alcohol use, Confusion, Hypotension |
ORPHA:36238 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Portal hypertension, Esophageal varix, Ascites, Pulmonary arterial h... |
ORPHA:974 |
Encephalitis Lethargica |
|
Increased circulating antibody level, Bowel incontinence, Recurrent viral infections |
ORPHA:83600 |
Hereditary Chronic Pancreatitis |
|
Elevated circulating C-reactive protein concentration, Abdominal pain, Leukocytosis, Recurrent pa... |
ORPHA:676 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, A... |
ORPHA:758 |
Cholera |
|
Hyponatremia, Achlorhydria, Abdominal pain, Diarrhea, Abnormal blood ion concentration, Hypokalem... |
ORPHA:173 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Nausea and vomiting, Normocytic anemia, Hypercalcemia, Anorexia, Abdominal pain, Di... |
ORPHA:95409 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Intractable diarrhea, Esophageal atresia, Congenital pyloric atresia, Elevated maternal serum alp... |
OMIM:226730 |
Caroli Disease |
|
Cholangiocarcinoma, Liver abscess, Cholangitis, Anorexia, Abdominal pain, Conjugated hyperbilirub... |
ORPHA:53035 |
Fabry Disease |
|
Abdominal pain, Diarrhea, Tenesmus, Vomiting, Nausea, Anemia |
OMIM:301500 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Intestinal malrotation, Abdominal distention, Secretory diarrhea, Cleft palate, Rectovaginal fist... |
OMIM:270420 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated circulating creatine kinase concentration, Feeding difficulties in infancy, Diarrhea, El... |
OMIM:608836 |
Encephalopathy, Ethylmalonic |
|
Elevated circulating butyrylcarnitine concentration, Chronic diarrhea, Feeding difficulties |
OMIM:602473 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... |
OMIM:264800 |
Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Malabsorption, Feeding difficulties in infancy, Cardiomyopathy, Gast... |
ORPHA:3463 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv... |
ORPHA:2968 |
Hypotrichosis Simplex Of The Scalp |
|
Atopic dermatitis, Increased circulating IgE level, Allergic rhinitis |
ORPHA:90368 |
Addison Disease |
|
Hyponatremia, Hypoparathyroidism, Nausea and vomiting, Primary testicular failure, Normocytic ane... |
ORPHA:85138 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Recurrent respiratory infections, Thrombocytopenia, Sepsis, Hepatosplenomegaly, Increased circula... |
ORPHA:505248 |
Plasminogen Deficiency, Type I |
|
Conjunctivitis, Nephritis, Duodenal ulcer, Periodontitis |
OMIM:217090 |
Trichohepatoenteric Syndrome 1 |
|
Villous atrophy, Increased mean platelet volume, Splenomegaly, Decreased circulating antibody lev... |
OMIM:222470 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Hypoalbuminemia, Secretory diarrhea, Acne, Seborrheic dermatitis |
OMIM:614441 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Esophageal ulceration, Gastric ulcer, Duodenal ulcer |
OMIM:618372 |
Ethylmalonic Encephalopathy |
|
Diarrhea |
ORPHA:51188 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Biliary hyperplasia, Sepsis, Leukopenia, Protein-losing enteropathy, Hypocalce... |
OMIM:619991 |
Multiple Endocrine Neoplasia, Type Iib |
|
Colonic diverticula, Aganglionic megacolon, High, narrow palate, Diarrhea, High palate, Pheochrom... |
OMIM:162300 |
Congenital Myopathy 20 |
|
Chronic diarrhea, High palate |
OMIM:620310 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, High, narrow palate, Nasogastric tube fe... |
ORPHA:369837 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Nongranulomatous uveitis, Anterior uveitis, Skin rash, Elevated circulating C-... |
ORPHA:91500 |
Congenital Tricuspid Stenosis |
|
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,... |
ORPHA:95459 |
Acute Intermittent Porphyria |
|
Hyponatremia, Nausea and vomiting, Abdominal pain, Abdominal distention, Diarrhea, Ileus, Pseudob... |
ORPHA:79276 |
Urban-Rogers-Meyer Syndrome |
|
Cryptorchidism, Increased circulating IgE level |
ORPHA:3409 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypophosphatemic rickets, Diarrhea, Vomiting, Abnormal circulating fatty-acid concentration |
ORPHA:263455 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Diarrhea, Vomiting |
OMIM:560000 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Abdominal distention, Secretory diarrhea, Elevated stool chloride content, Hypochlo... |
OMIM:214700 |
Dopamine Beta-Hydroxylase Deficiency |
|
Diarrhea, Elevated circulating creatinine concentration, Rhinitis, Vomiting, Increased blood urea... |
ORPHA:230 |
19P13.13 Microdeletion Syndrome |
|
Abdominal pain, Diarrhea, Functional abnormality of the gastrointestinal tract, Feeding difficult... |
ORPHA:357001 |
Sickle Cell Disease |
|
Hemolytic anemia, Abdominal pain, Splenomegaly, Splenic infarction, Leukocytosis, Recurrent bacte... |
OMIM:603903 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Hypocalcemia, Neutropenia, Hypoparathyroid... |
ORPHA:699 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Reye syndrome-like episodes, Diarrhea, Vomiting, Hyperuricemia, Hyperalaninemia, Neonatal hyperbi... |
ORPHA:348 |
Infantile Systemic Hyalinosis |
|
Abnormality of the gastrointestinal tract, Malabsorption, Chronic diarrhea, Polycystic ovaries, F... |
ORPHA:2176 |
Frontometaphyseal Dysplasia 2 |
|
Feeding difficulties in infancy, Pyloric stenosis, Cleft palate, Ulcerative colitis, Gastroesopha... |
OMIM:617137 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Pancytopenia, Skin rash, Diarrhea, Vomiting, Episodic vomiting |
OMIM:618321 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Skin rash, Pneumonia, Raynaud phenomenon, Punctate vasculitis skin l... |
ORPHA:247691 |
Houge-Janssens Syndrome 1 |
|
Pyloric stenosis, Chronic diarrhea |
OMIM:616355 |
Infant Botulism |
|
Cardiac arrest, Anorexia, Hypertension, Hypotension, Dysphagia |
ORPHA:178478 |
Menke-Hennekam Syndrome 2 |
|
Chronic constipation, Duodenal ulcer |
OMIM:618333 |
Acrodermatitis Enteropathica |
|
Anorexia, Malabsorption, Poor appetite, Pustule, Chronic diarrhea, Cheilitis, Furrowed tongue, Co... |
ORPHA:37 |
Wild Type Attr Amyloidosis |
|
Intermittent diarrhea, Gastrointestinal dysmotility, Chronic diarrhea, Bowel incontinence |
ORPHA:330001 |
Analbuminemia |
|
Hypotension |
OMIM:616000 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Anorexia, Pulmonary embolism, Esophageal varix, Intracranial hemorrh... |
ORPHA:394 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Ileal atresia, Abdominal distention, Peritonitis, Pyelonephritis, Bidirectional shunt, Elevated p... |
OMIM:619351 |
Neuroblastoma, Susceptibility To, 1 |
|
Diarrhea, Anemia, Abdominal pain |
OMIM:256700 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Conjugated hyperbilirubinemia, Chronic diarrhea |
OMIM:619484 |
Mucopolysaccharidosis, Type Iiid |
|
Splenomegaly, Diarrhea, Recurrent upper respiratory tract infections, Macroglossia, Dysphagia, Re... |
OMIM:252940 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Bradycardia, Cardiac arrest, Hypotension |
ORPHA:70587 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Lymphopenia, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Recur... |
ORPHA:508533 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Renal neoplasm, Lymphedema, Retinal hamartoma, Renal angiomyolipoma,... |
ORPHA:538 |
Young-Onset Parkinson Disease |
|
Diarrhea, Constipation, Nausea, Gastroparesis |
ORPHA:2828 |
Familial Hypocalciuric Hypercalcemia |
|
Nausea and vomiting, Peptic ulcer, Episodic abdominal pain, Lipoma, Pancreatitis |
ORPHA:405 |
Urachal Cyst |
|
Abscess, Elevated circulating C-reactive protein concentration, Abdominal pain, Severe infection,... |
ORPHA:488 |
Bronchial Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Anorexia, Poor appetite, Elevated circulating growth hormo... |
ORPHA:97287 |
Congenital Disorder Of Glycosylation, Type Im |
|
Inflammatory abnormality of the skin, Diarrhea, Vomiting, Increased circulating free fatty acid l... |
OMIM:610768 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level |
OMIM:114065 |
17Q11 Microdeletion Syndrome |
|
Multiple mucosal neuromas, Brain neoplasm, Pheochromocytoma, Myelodysplasia, Glomus jugular tumor... |
ORPHA:97685 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Feeding difficulties in infancy, Constipation, Gastroesophageal reflux, Diarrhea |
OMIM:608643 |
Trichohepatoneurodevelopmental Syndrome |
|
Splenomegaly, Chronic diarrhea, Recurrent infections, Feeding difficulties, Macroglossia, Gastroe... |
OMIM:618268 |
Viss Syndrome |
|
Chronic gastritis, High, narrow palate, Increased circulating IgG level, High palate, Gastroesoph... |
OMIM:619472 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Episodic vomiting, Diarrhea, Constipation |
OMIM:105210 |
Poems Syndrome |
|
Lymphadenopathy, Increased circulating antibody level, Thrombocytosis, Polycythemia, Increased ci... |
ORPHA:2905 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Anal fissure, Pustule,... |
ORPHA:294023 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Increased circulating antibody level, Elevated circulating creatine kinase concentration, Elevate... |
OMIM:606002 |
Multiple Endocrine Neoplasia Type 2 |
|
Aganglionic megacolon, Hypercalcemia, Thyroid C cell hyperplasia, Abdominal distention, Abnormal ... |
ORPHA:653 |
Farber Disease |
|
Thrombocytopenia, Chronic diarrhea, Recurrent upper respiratory tract infections, Feeding difficu... |
ORPHA:333 |
Scrub Typhus |
|
Myocarditis, Renal insufficiency, Hypotension |
ORPHA:83317 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Reticulocytosis, Acanthocytosis, Chronic diarrhea, Decre... |
ORPHA:14 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Diarrhea, Feeding difficulties, Constipation, High palate, Otitis media, Intermittent diarrhea |
OMIM:618050 |
Rothmund-Thomson Syndrome |
|
Calcinosis, Skin rash, Aplastic anemia, Nasogastric tube feeding in infancy, Diarrhea, Vomiting, ... |
ORPHA:2909 |
Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, Sinus tachycardia, Confusion, Oliguria, Abnormal pulse pressure, ST segmen... |
ORPHA:466650 |
Rothmund-Thomson Syndrome Type 1 |
|
Calcinosis, Aplastic anemia, Cryptorchidism, Diarrhea, Functional abnormality of the gastrointest... |
ORPHA:221008 |
Rothmund-Thomson Syndrome Type 2 |
|
Calcinosis, Aplastic anemia, Cryptorchidism, Diarrhea, Cleft palate, Functional abnormality of th... |
ORPHA:221016 |
Melas |
|
Hypoparathyroidism, Intestinal pseudo-obstruction, Gastrointestinal dysmotility, Diarrhea, Vomiti... |
ORPHA:550 |
Unilateral Polymicrogyria |
|
Pseudobulbar paralysis, Epistaxis, Abnormal posturing, Nasogastric tube feeding |
ORPHA:268943 |
Chronic Graft Versus Host Disease |
|
Fasciitis, Pancytopenia, Anorexia, Abdominal pain, Urinary bladder inflammation, Esophageal stric... |
ORPHA:99921 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Portal hypertension, Hematemesis, Esophageal varix, Dehydration, Hypertension, Oligohydramnios |
OMIM:263200 |
Cockayne Syndrome Type 1 |
|
Cryptorchidism, Diarrhea, Uveitis, Conjunctivitis, Increased blood urea nitrogen, Anemia |
ORPHA:90321 |
Trichinellosis |
|
Skin rash, Increased circulating IgE level, Conjunctivitis, Dysphagia, Meningitis, Nausea |
ORPHA:863 |
Leptospirosis |
|
Nausea and vomiting, Pericarditis, Skin rash, Anorexia, Abdominal pain, Diarrhea, Hepatitis, Uvei... |
ORPHA:509 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... |
OMIM:261740 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated circulating creatine kinase concentration, Chronic diarrhea, Hepatitis, Cleft palate, Ch... |
OMIM:614921 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Abdominal distention, Microcolon, Polyhydramnios |
OMIM:619362 |
Dubowitz Syndrome |
|
Hypoparathyroidism, Anal stenosis, Eczema, Abnormality of neutrophils, Malabsorption, Cryptorchid... |
ORPHA:235 |
Monosomy 18Q |
|
Bilateral cryptorchidism, High palate, Secondary growth hormone deficiency, Decreased circulating... |
ORPHA:1600 |
Alternating Hemiplegia Of Childhood |
|
Abnormality of the gastrointestinal tract, Anorexia, Oral-pharyngeal dysphagia, Abdominal distent... |
ORPHA:2131 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Aganglionic megacolon, Abdominal pain, Ileus, Constipation, Arrhythmia, Microcolon |
ORPHA:163746 |
Adult Acute Respiratory Distress Syndrome |
|
Shock, Vasculitis, Hypotension |
ORPHA:70578 |
Nijmegen Breakage Syndrome |
|
Recurrent sinopulmonary infections, Anal stenosis, Recurrent respiratory infections, Hemolytic an... |
ORPHA:647 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Prolonged QT interval, Failure to thrive in infancy, Myocardial infarction, Lymphedema, Celiac di... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Prolonged QT interval, Failure to thrive in infancy, Myocardial infarction, Lymphedema, Celiac di... |
ORPHA:99228 |
Monosomy X |
|
Prolonged QT interval, Failure to thrive in infancy, Myocardial infarction, Lymphedema, Celiac di... |
ORPHA:99226 |
Turner Syndrome |
|
Prolonged QT interval, Failure to thrive in infancy, Myocardial infarction, Lymphedema, Celiac di... |
ORPHA:881 |
Gaucher Disease Type 3 |
|
Recurrent respiratory infections, Pancytopenia, Splenomegaly, Anemia, Increased circulating antib... |
ORPHA:77261 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Osteomyelitis, Malabsorption, Feeding difficult... |
ORPHA:565 |
Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Cholangiocarcinoma, Cholangitis, Portal hypertension, Recurrent pneu... |
ORPHA:731 |
Aapoaiv Amyloidosis |
|
Abnormality of the gastrointestinal tract, Hyperlipidemia, Paraproteinemia, Elevated circulating ... |
ORPHA:439232 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hypotension |
ORPHA:91354 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Anorexia, Oral-phar... |
ORPHA:95455 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Recurrent urinary tract infections, Hypospadias, Impulsivity, Aggressive behavior,... |
ORPHA:353281 |
Hellp Syndrome |
|
Proteinuria, Cerebral hemorrhage, Hemoglobinuria, Hypotension, Acute kidney injury, Internal hemo... |
ORPHA:244242 |
Sandhoff Disease |
|
Macroglossia, Chronic diarrhea, Episodic abdominal pain, Hepatosplenomegaly |
OMIM:268800 |
Arteriosclerosis, Severe Juvenile |
|
Hypertension, Gastric ulcer, Myocardial infarction |
OMIM:208060 |
Acute Liver Failure |
|
Gastrointestinal hemorrhage, Shock, Confusion, Depression, Euphoria, Intracranial hemorrhage, Agi... |
ORPHA:90062 |
Cerebrotendinous Xanthomatosis |
|
Cholelithiasis, Abnormal circulating cholesterol concentration, Pseudobulbar paralysis, Diarrhea |
OMIM:213700 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Feeding difficulties in infancy, Cryptorchidism, Chronic diarrhea, Chronic constipation, Gastroes... |
ORPHA:500055 |
Chromosome 5Q12 Deletion Syndrome |
|
Hypotension |
OMIM:615668 |
Chikungunya |
|
Maculopapular exanthema, Skin rash, Erythema nodosum, Cervical lymphadenopathy, Diarrhea, Crustin... |
ORPHA:324625 |
Gaucher Disease |
|
Pancytopenia, Osteomyelitis, Elevated circulating C-reactive protein concentration, Abdominal pai... |
ORPHA:355 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hypotension |
OMIM:620125 |
Congenital Enterovirus Infection |
|
Myocarditis, Irritability, Hypotension, Cardiomyopathy |
ORPHA:292 |
Erythrocytosis, Familial, 2 |
|
Hypotension, Pulmonary arterial hypertension, Cerebral hemorrhage |
OMIM:263400 |
Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Poor appetite, Diarrhea, Hypokalemia, Vomiting, Constipation |
ORPHA:18 |
Deeah Syndrome |
|
Decreased hemoglobin concentration, Decreased response to growth hormone stimulation test, Anteri... |
OMIM:619004 |
Reynolds Syndrome |
|
Gastrointestinal hemorrhage, Raynaud phenomenon, Erythema nodosum, Lip telangiectasia, Palmar tel... |
OMIM:613471 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Supernumerary nipple, Pyloric stenosis, Submucous cleft hard palate, Chronic diarrhea, High palate |
ORPHA:457279 |
Glycogen Storage Disease Ia |
|
Hyperlipidemia, Gout, Hyperuricemia, Protuberant abdomen, Hepatocellular carcinoma, Intermittent ... |
OMIM:232200 |
Wolfram Syndrome 2 |
|
Abnormal bleeding, Gastric ulcer |
OMIM:604928 |
Williams Syndrome |
|
Myocardial infarction, Periorbital edema, Rectal prolapse, Gastroesophageal reflux, Chronic otiti... |
ORPHA:904 |
Familial Gestational Hyperthyroidism |
|
Goiter, Diarrhea, Thyroid hyperplasia |
ORPHA:99819 |
Pituitary Apoplexy |
|
Hypertension, Confusion, Hypotension |
ORPHA:95613 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Reye syndrome-like episodes, Diarrhea, Abdominal distention, Osteomyelitis... |
OMIM:256810 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Goiter, Diarrhea, Thyroid hyperplasia |
ORPHA:424 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Hypercalcemia, Diarrhea,... |
OMIM:601678 |
22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Hypertensive crisis, Aganglionic megacolon, Intestinal malrotation, ... |
ORPHA:567 |
Gitelman Syndrome |
|
Neoplasm of the pancreas, Nausea and vomiting, Abdominal pain, Diarrhea, Hypermagnesemia, Gout, T... |
ORPHA:358 |
Ogden Syndrome |
|
Tube feeding, Eczema, Cryptorchidism, Diarrhea, Narrow palate, Recurrent infections, Hydrocele te... |
OMIM:300855 |
Pde4D Haploinsufficiency Syndrome |
|
Hypospadias, Hypotension |
ORPHA:439822 |
Mucopolysaccharidosis Type 3 |
|
Recurrent sinopulmonary infections, Malabsorption, Splenomegaly, Recurrent tonsillitis, Macroglos... |
ORPHA:581 |
Hurler Syndrome |
|
Recurrent respiratory infections, Splenomegaly, Chronic diarrhea, Feeding difficulties, Macroglos... |
ORPHA:93473 |
Spondyloocular Syndrome |
|
Decreased body weight, Duodenal ulcer, Lymphedema |
OMIM:605822 |
Hypoplasminogenemia |
|
Cervicitis, Duodenal ulcer, Periodontitis |
ORPHA:722 |
Alexander Disease |
|
Sudden cardiac death, Depression, Self-injurious behavior, Hypertension, Hypotension, Dysphagia, ... |
ORPHA:58 |
Diamond-Blackfan Anemia 21 |
|
Erythroid hypoplasia, Thrombocytopenia, Chronic diarrhea, Anemia |
OMIM:620072 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased hemoglobin concentration, Cryptorchidism, Chronic diarrhea, Chronic constipation, High ... |
OMIM:619005 |
Post-Traumatic Pituitary Deficiency |
|
Hypotension |
ORPHA:95619 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Diarrhea, Hypochloremia, Hypokalemia, Increas... |
OMIM:241200 |
Alg9-Cdg |
|
Villous atrophy, Diarrhea, Hypoplasia of the ovary, Gastroesophageal reflux, Hypoplastic nipples,... |
ORPHA:79328 |
Hennekam-Beemer Syndrome |
|
Irritability, Arrhythmia, Telangiectasia of the skin, Hypotension |
ORPHA:2135 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
|
Secretory diarrhea, Acne, Seborrheic dermatitis |
OMIM:167100 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hypotension, Hypospadias, Penoscrotal hypospadias, Renal salt wasting |
ORPHA:90791 |
Mowat-Wilson Syndrome |
|
Aganglionic megacolon, Bowel incontinence, Cleft hard palate, Pyloric stenosis, Gastrointestinal ... |
ORPHA:2152 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Malignant gastrointestinal tract tumors, Pancreatic adenocarcinoma, Adrenal hyperplasia, Acne, Ne... |
ORPHA:99889 |
Congenital Isolated Acth Deficiency |
|
Hypotension |
ORPHA:199296 |
Steinert Myotonic Dystrophy |
|
Intestinal pseudo-obstruction, Decreased response to growth hormone stimulation test, Cholelithia... |
ORPHA:273 |
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Arthritis, Gastric ulcer, Gastric hypertrophy |
OMIM:161700 |
Fructose Intolerance, Hereditary |
|
Gastrointestinal hemorrhage, Abdominal pain, Malnutrition, Vomiting, Failure to thrive, Nausea |
OMIM:229600 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Impuls... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Impuls... |
ORPHA:353277 |
Scorpion Envenomation |
|
Acute pancreatitis, Increased circulating NT-proBNP concentration, Abdominal pain, Myocarditis, D... |
ORPHA:466677 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Recurrent skin infections, Abnormal tongue morphology, Recurrent pneumonia, Chronic ... |
ORPHA:158668 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Renal salt wasting, Abnormal urine potassium concentration, Hypovolemia, Hypernatriuria, Midshaft... |
ORPHA:168558 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Renal salt wasting, Abnormal urine potassium concentration, Hypovolemia, Hypernatriuria, Midshaft... |
ORPHA:289548 |
Cysticercosis |
|
Iridocyclitis, Infectious encephalitis, Increased circulating antibody level |
ORPHA:1560 |
Proximal Renal Tubular Acidosis |
|
Malabsorption, Diarrhea, Bicarbonaturia, Hypokalemia, Vomiting |
ORPHA:47159 |
Helsmoortel-Van Der Aa Syndrome |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Decreased response to growt... |
OMIM:615873 |
Aspartylglucosaminuria |
|
Recurrent respiratory infections, Acne, Diarrhea, Vacuolated lymphocytes, Macroglossia, Neutropen... |
OMIM:208400 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Gastrointestinal hemorrhage, Congestive heart failure, Recurrent pneumonia, Arterial rupture, Bru... |
OMIM:225400 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Gastroparesis, Feeding difficulties in infancy, Gastrointestinal dysmotility,... |
ORPHA:500150 |
African Trypanosomiasis |
|
Pericarditis, Keratitis, Splenomegaly, Diarrhea, Myocarditis, Hepatosplenomegaly, Abnormal prolac... |
ORPHA:3385 |
Simpson-Golabi-Behmel Syndrome |
|
Supernumerary nipple, High, narrow palate, Cryptorchidism, Increased circulating IgE level, Splen... |
ORPHA:373 |
Omphalocele Syndrome, Shprintzen-Goldberg Type |
|
Feeding difficulties in infancy, Chronic diarrhea, Gastroesophageal reflux, Anal atresia |
ORPHA:3164 |
Occipital Horn Syndrome |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Hi... |
OMIM:304150 |
Lipodystrophy, Familial Partial, Type 7 |
|
Hypertriglyceridemia, Diarrhea, Feeding difficulties, Vomiting, Recurrent pancreatitis, Dysphagia... |
OMIM:606721 |
Coffin-Siris Syndrome 1 |
|
Duodenal ulcer, Intestinal malrotation, Feeding difficulties in infancy, Cleft palate, Gastric ul... |
OMIM:135900 |
8Q24.3 Microdeletion Syndrome |
|
Gastrointestinal hemorrhage, Small for gestational age, Feeding difficulties in infancy, Nasogast... |
ORPHA:508488 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Recurrent ear infections, Splenomegaly, Recurrent upper respiratory tract infections, Chronic dia... |
ORPHA:217085 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Recurrent ear infections, Splenomegaly, Recurrent upper respiratory tract infections, Chronic dia... |
ORPHA:217093 |
Zttk Syndrome |
|
Absent gallbladder, Feeding difficulties in infancy, Submucous cleft hard palate, Chronic diarrhe... |
OMIM:617140 |
Mucopolysaccharidosis Type 2 |
|
Recurrent ear infections, Splenomegaly, Recurrent upper respiratory tract infections, Chronic dia... |
ORPHA:580 |
Non-Functioning Pituitary Adenoma |
|
Hypotension |
ORPHA:91349 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Intestinal malrotation, Exocrine pancreatic insufficiency, Feeding difficulties, Aplasia/Hypoplas... |
ORPHA:2255 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Shock, Renal salt wasting, Long penis, Hypovolemia, Elevated urinary epinephrine level, Hypernatr... |
ORPHA:90794 |
Prolactinoma |
|
Hypotension |
ORPHA:2965 |
Tsh-Secreting Pituitary Adenoma |
|
Supraventricular arrhythmia, Congestive heart failure, Hypertension, Palpitations, Hypotension, V... |
ORPHA:91347 |
Nmda Receptor Encephalitis |
|
Ovarian teratoma, Diarrhea, Vomiting, Testicular teratoma |
ORPHA:217253 |
Cerebrotendinous Xanthomatosis |
|
Cholelithiasis, Chronic diarrhea |
ORPHA:909 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hypotension |
ORPHA:293978 |
Non-Acquired Panhypopituitarism |
|
Hypotension |
ORPHA:90695 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Hypotension |
ORPHA:95494 |