Solitary Rectal Ulcer Syndrome |
|
Bloody diarrhea, Rectal prolapse, Bloody mucoid diarrhea, Tenesmus, Stercoral ulcer, Anemia, Inte... |
ORPHA:209964 |
Nk-Cell Enteropathy |
|
Intestinal polyp, Duodenal ulcer, Gastric ulcer, Abnormal gastric mucosa morphology, Lymphoprolif... |
ORPHA:263665 |
Immunodeficiency 14B, Autosomal Recessive |
|
Thrombocytosis, Leukocytosis, Inflammation of the large intestine, B lymphocytopenia, Monocytosis... |
OMIM:619281 |
Eosinophilic Gastroenteritis |
|
Atopic dermatitis, Leukocytosis, Dysphagia, Allergic rhinitis, Vomiting, Weight loss, Anemia, Mal... |
ORPHA:2070 |
Lactose Intolerance, Adult Type |
|
Flatulence, Lactose intolerance, Decreased small intestinal mucosa lactase level, Diarrhea, Abdom... |
OMIM:223100 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Folliculitis, Pyoderma, Perianal abscess, Crohn's disease, Enterocolitis, Colitis, Hematochezia |
OMIM:613148 |
Cap Polyposis |
|
Colorectal polyposis, Constipation, Atrophic gastritis, Weight loss, Abdominal distention, Diarrh... |
ORPHA:160148 |
Inflammatory Bowel Disease 11 |
|
Inflammation of the large intestine, Weight loss, Diarrhea, Abdominal pain, Hematochezia |
OMIM:191390 |
Hereditary Mixed Polyposis Syndrome |
|
Colorectal polyposis, Rectal polyposis, Thyroid carcinoma, Neoplasm of the rectum, Adenomatous co... |
ORPHA:157794 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Bloody diarrhea, Anemia, Ulcerative colitis |
OMIM:619398 |
Juvenile Polyposis Syndrome |
|
Rectal prolapse, Neoplasm of the stomach, Failure to thrive, Multiple gastric polyps, Anemia, Int... |
OMIM:174900 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Anorexia, Vomiting, Xerostomia, Gastrointestinal carcinoma, Anemia, Malabsorption, Glos... |
OMIM:175500 |
Immunodeficiency 76 |
|
B lymphocytopenia, Colitis, Splenomegaly, Chronic diarrhea, B-cell lymphoma, Recurrent pneumonia,... |
OMIM:619164 |
Vascular Hyalinosis |
|
Malabsorption, Diarrhea, Protein-losing enteropathy, Subarachnoid hemorrhage, Hematochezia |
OMIM:277175 |
Neuroendocrine Tumor Of The Rectum |
|
Right ventricular failure, Facial telangiectasia, Bloody diarrhea, Anorexia, Tenesmus, Constipati... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Right ventricular failure, Facial telangiectasia, Bloody diarrhea, Anorexia, Tenesmus, Constipati... |
ORPHA:100082 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Neutropenia, Monocytosis, Leukemia, Lymphoproliferative disorder, Lymphoma, Splenomegaly, Autoimm... |
OMIM:614470 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Abnormal intestine morphology, Failure to thrive, Recurrent otitis media, Splenomegaly, Increased... |
OMIM:618495 |
Turcot Syndrome With Polyposis |
|
Astrocytoma, Thyroid carcinoma, Adenomatous colonic polyposis, Leukemia, Brain neoplasm, Basal ce... |
ORPHA:99818 |
Colorectal Cancer, Susceptibility To, 12 |
|
Colorectal polyposis, Carcinoma |
OMIM:615083 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent infection of the gastrointestinal tract, Acute lymphoblastic leukemia, Eosinophilia, My... |
ORPHA:486 |
Immunodeficiency 70 |
|
B lymphocytopenia, Decreased circulating total IgA, Celiac disease, Decreased circulating total I... |
OMIM:618969 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Increased circulati... |
OMIM:202700 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Weight loss, Abdominal distention, Diarrhea, Protein-losing enteropathy, Hematochezia |
ORPHA:103910 |
Immunodeficiency, Common Variable, 11 |
|
Inflammation of the large intestine, Decreased proportion of class-switched memory B cells, Mucoi... |
OMIM:615767 |
Enterocolitis |
|
Abdominal distention, Ulcerative colitis, Hematochezia, Enterocolitis |
OMIM:226150 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased specific pneumococcal antib... |
OMIM:617006 |
Juvenile Polyposis Of Infancy |
|
High, narrow palate, Cachexia, Rectal prolapse, Adenomatous colonic polyposis, Hemangioma, Refrac... |
ORPHA:79076 |
Immunodeficiency 19 |
|
Failure to thrive, Diarrhea, Lymphopenia, Recurrent otitis media |
OMIM:615617 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Rectal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Anemia, Duodenal polypo... |
ORPHA:329971 |
Wiskott-Aldrich Syndrome |
|
Sinusitis, Eczema, Inflammation of the large intestine, Neutropenia, Petechiae, Chronic otitis me... |
ORPHA:906 |
Ficolin 3 Deficiency |
|
Verrucae, Necrotizing enterocolitis |
OMIM:613860 |
Zollinger-Ellison Syndrome |
|
Duodenal ulcer, Gastrointestinal hemorrhage, Pituitary corticotropic cell adenoma, Diarrhea, Neur... |
ORPHA:913 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Eczema, Myelodysplasia, Leukopenia, Monocytosis, Refractory anemia, Lymphoma, Acute myeloid leukemia |
OMIM:616871 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Psoriasiform dermatitis, Interface hepatitis, Hypoplasia of the thymus, Intestinal malrotation, I... |
OMIM:243150 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Inflammation of the large intestine, Folliculitis, Colitis, Decreased circulating antibody level,... |
OMIM:300635 |
Congenital Factor V Deficiency |
|
Bruising susceptibility, Menorrhagia, Intracranial hemorrhage, Prolonged bleeding following proce... |
ORPHA:326 |
Immunodeficiency 57 With Autoinflammation |
|
B lymphocytopenia, Inflammation of the large intestine, Bronchiectasis, Failure to thrive, T lymp... |
OMIM:618108 |
Immunodeficiency 37 |
|
Decreased circulating antibody level, Infectious encephalitis, Colitis, Decreased proportion of c... |
OMIM:616098 |
Hyperlipoproteinemia, Type Id |
|
Failure to thrive, Colitis, Splenomegaly |
OMIM:615947 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Secretory diarrhea, Inflammation of the large intestine, Elevated fecal sodium, Abdominal distention |
OMIM:616868 |
Adult Idiopathic Neutropenia |
|
Neutropenia, Helicobacter pylori infection, Monocytosis, Increased circulating IgM level, Lymphop... |
ORPHA:2688 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Abnormal esophagus physiology, Dysphagia, Nausea and vomiting, Abnormal large intestine morpholog... |
ORPHA:2198 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
Radiation Proctitis |
|
Tenesmus, Abnormality of gastrointestinal vasculature, Intestinal obstruction, Abnormal rectum mo... |
ORPHA:70475 |
Trehalase Deficiency |
|
Vomiting, Abdominal distention, Malabsorption, Diarrhea, Abdominal pain |
ORPHA:103909 |
Gastrointestinal Stromal Tumor |
|
Nausea and vomiting, Dysphagia, Neoplasm of the rectum, Esophageal neoplasm, Gastrointestinal str... |
ORPHA:44890 |
Zygomycosis |
|
Brain abscess, Myocarditis, Colon perforation, Sinusitis, Neutropenia, Fasciitis, Hepatitis, Mele... |
ORPHA:73263 |
Reticular Dysgenesis |
|
Leukopenia, Failure to thrive, Chronic otitis media, Weight loss, Decreased circulating antibody ... |
ORPHA:33355 |
Immunodeficiency 60 And Autoimmunity |
|
Bronchiectasis, Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, C... |
OMIM:618394 |
Hermansky-Pudlak Syndrome 1 |
|
Inflammation of the large intestine, Gingival bleeding, Epistaxis, Cardiomyopathy, Prolonged blee... |
OMIM:203300 |
5-Oxoprolinase Deficiency |
|
Diarrhea, Abdominal pain, Vomiting, Enterocolitis |
OMIM:260005 |
Juvenile Polyposis Syndrome |
|
Brain abscess, Visceral angiomatosis, Hemangioblastoma, Spontaneous, recurrent epistaxis, Neoplas... |
ORPHA:2929 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Abnormal intestine morphology, Bloody diarrhea, Vomiting, Esophagitis, Duodenitis, Gastritis, Chr... |
OMIM:619079 |
Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Agammaglobulinemia, Neutropenia, Failure to thrive, Recurrent otitis media, Diarrhea |
OMIM:613501 |
Hirschsprung Disease |
|
Nausea and vomiting, Failure to thrive in infancy, Aganglionic megacolon, Functional abnormality ... |
ORPHA:388 |
Immunodeficiency 48 |
|
Eczematoid dermatitis, Pneumonia, Failure to thrive, Splenomegaly, Panhypogammaglobulinemia, Diar... |
OMIM:269840 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Cerebral hemorrhage, Hypertrophic cardiomyopathy, Bloody diarrhea, Intracranial hemorrhage, Morph... |
ORPHA:464321 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Abnormal intestine morphology, Feeding difficulties in infancy, Vomiting, Failure to thrive, Diar... |
OMIM:606528 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Inflammation of the large intestine, Splenomegaly, Uveitis, Decreased circulating total IgM, Panc... |
OMIM:614700 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent infection of the gastrointestinal tract, Pneumonia, Stomatitis, Lymphoproliferative dis... |
ORPHA:911 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Shock, Abnormal intestine morphology, Anorexia, Neutropenia, Vomiting, Decreased circulating IgG ... |
OMIM:600351 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute lymphoblastic leukemia, Neutropenia, Splenomegaly, Hepatosplenomegaly, Abnormal serum inter... |
ORPHA:158057 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Decreased circulating antibody level, Anemia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia,... |
OMIM:613101 |
Rhabdoid Tumor Predisposition Syndrome 2 |
|
Neoplasm of the central nervous system, Carcinoma |
OMIM:613325 |
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach |
|
Fundic gland polyposis, Abdominal pain, Gastric adenocarcinoma, Melena |
OMIM:619182 |
Autoinflammation With Infantile Enterocolitis |
|
Feeding difficulties in infancy, Villous atrophy, Failure to thrive, Anemia, Splenomegaly, Reduce... |
OMIM:616050 |
Inflammatory Bowel Disease 29 |
|
Crohn's disease, Ulcerative colitis |
OMIM:618077 |
Sweet Syndrome |
|
Dilated cardiomyopathy, Inflammation of the large intestine, Acne inversa, Abnormal serum interle... |
ORPHA:3243 |
Li-Fraumeni Syndrome 2 |
|
Meningioma, Stomach cancer, Breast carcinoma, Sarcoma, Glioma |
OMIM:609265 |
Muir-Torre Syndrome |
|
Sebaceous gland carcinoma, Malignant genitourinary tract tumor, Benign gastrointestinal tract tum... |
OMIM:158320 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Inflammation of the large intestine, Abdominal pain, Weight loss, Intestinal obstruction, Crohn's... |
OMIM:266600 |
Neuroendocrine Tumor Of Stomach |
|
Right ventricular failure, Facial telangiectasia, Atypical pulmonary carcinoid tumor, Melena, Nau... |
ORPHA:100075 |
Ménétrier Disease |
|
Anorexia, Stomach cancer, Helicobacter pylori infection, Abnormal gastric mucosa morphology, Vomi... |
ORPHA:2494 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Sinusitis, B lymphocytopenia, Agammaglobulinemia, Neutropenia, Pneumonia, Bronchiectasis, Failure... |
OMIM:601495 |
Immunodeficiency 91 And Hyperinflammation |
|
Monocytosis, Failure to thrive, Pulmonary hemorrhage, Intermittent diarrhea, Neutrophilia, Hepato... |
OMIM:619644 |
Autoinflammatory Syndrome, Familial, Behcet-Like |
|
Colitis, Anterior uveitis, Lymphopenia, Ileal ulcer, Skin rash, Thrombocytopenia, Hemolytic anemia |
OMIM:616744 |
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
|
Dysphagia, Inflammation of the large intestine, Neutropenia, Eczema, Colitis, Failure to thrive, ... |
OMIM:608809 |
Immunodeficiency 31C |
|
Abnormal intestine morphology, Eczema, Villous atrophy, Chronic mucocutaneous candidiasis, Lympho... |
OMIM:614162 |
Linear Iga Dermatosis |
|
Renal neoplasm, Epistaxis, Inflammation of the large intestine, Bladder neoplasm |
ORPHA:46488 |
Bare Lymphocyte Syndrome, Type Ii |
|
Cholangitis, Agammaglobulinemia, Neutropenia, Villous atrophy, Infectious encephalitis, Protracte... |
OMIM:209920 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
|
Eczema, Pneumonia, Failure to thrive secondary to recurrent infections, Splenomegaly, Otitis medi... |
OMIM:608971 |
Aggressive Systemic Mastocytosis |
|
Neutropenia, Leukemia, Gastrointestinal hemorrhage, Hepatosplenomegaly, Hypersplenism, Maculopapu... |
ORPHA:98850 |
Ebola Hemorrhagic Fever |
|
Dysphagia, Vomiting, Nausea, Leukopenia, Hepatitis, Melena, Gastrointestinal hemorrhage, Increase... |
ORPHA:319218 |
Autosomal Agammaglobulinemia |
|
Sinusitis, High palate, Neutropenia, Agammaglobulinemia, Bronchiectasis, Failure to thrive, Verru... |
ORPHA:33110 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Abnormal immunoglobulin level, Diarrhea |
OMIM:614102 |
Neuroendocrine Tumor Of The Colon |
|
Right ventricular failure, Facial telangiectasia, Bloody diarrhea, Anorexia, Bowel urgency, Atypi... |
ORPHA:100080 |
Autoimmune Lymphoproliferative Syndrome |
|
Neoplasm of the skin, Thyroid carcinoma, Elevated proportion of CD4-negative, CD8-negative, alpha... |
ORPHA:3261 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Vomiting, Abdominal distention, Abnormality of enteric ganglion morphology... |
OMIM:142623 |
Immunodeficiency 85 And Autoimmunity |
|
Failure to thrive in infancy, Tube feeding, Villous atrophy, Eczema, Vomiting, Erythroderma, Decr... |
OMIM:619510 |
Sucrase-Isomaltase Deficiency, Congenital |
|
Abdominal pain, Diarrhea, Malabsorption |
OMIM:222900 |
Congenital Factor Xiii Deficiency |
|
Inflammation of the large intestine, Prolonged bleeding following circumcision, Bruising suscepti... |
ORPHA:331 |
Diarrhea 9 |
|
Failure to thrive, Diarrhea, Villous atrophy |
OMIM:618168 |
Inflammatory Bowel Disease 3 |
|
Ulcerative colitis |
OMIM:604519 |
Inflammatory Bowel Disease 21 |
|
Ulcerative colitis |
OMIM:612354 |
Visceral Myopathy 2 |
|
Dysphagia, Rectal prolapse, Megaduodenum, Intestinal pseudo-obstruction, Volvulus, Esophagitis, G... |
OMIM:619350 |
Trehalase Deficiency |
|
Diarrhea, Abdominal pain |
OMIM:612119 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Atopic dermatitis, B lymphocytopenia, Pneumonia, Anal canal squamous carcinoma, Verrucae, Chronic... |
ORPHA:217390 |
Isolated Agammaglobulinemia |
|
Sinusitis, Pneumonia, Recurrent cutaneous abscess formation, Failure to thrive, Abnormal lymphocy... |
ORPHA:229717 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
B lymphocytopenia, Pneumonia, Failure to thrive, Failure to thrive secondary to recurrent infecti... |
OMIM:601457 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Thrombocytosis, Cystic acne, Sterile arthritis, Sterile abscess, Acne, Arthritis, Hepatosplenomeg... |
OMIM:604416 |
Cronkhite-Canada Syndrome |
|
Cachexia, Anorexia, Stomach cancer, Gastrointestinal carcinoma, Anemia, Neoplasm, Furrowed tongue... |
ORPHA:2930 |
Lactase Deficiency, Congenital |
|
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level |
OMIM:223000 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Ecchymosis, Abnormality of serum cytokine level, Increased circulating interleukin 6, Neutropenia... |
ORPHA:540 |
Peutz-Jeghers Syndrome |
|
Rectal prolapse, Neoplasm of the small intestine, Gastrointestinal hemorrhage, Abdominal pain, En... |
ORPHA:2869 |
Immunodeficiency 55 |
|
Eczema, Myelodysplasia, Neutropenia, Recurrent skin infections, Diarrhea |
OMIM:617827 |
Secondary Short Bowel Syndrome |
|
Aganglionic megacolon, Villous atrophy, Abnormality of the small intestine, Vomiting, Failure to ... |
ORPHA:95427 |
Thymoma |
|
Prostate neoplasm, Imbalanced hemoglobin synthesis, Neoplasm of the lung, Neoplasia of the pleura... |
ORPHA:99867 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Psoriasiform dermatitis, Eczema, Bronchiectasis, Decreased circulating IgA level, Decreased circu... |
OMIM:616100 |
Acquired Von Willebrand Syndrome |
|
Menorrhagia, Intracranial hemorrhage, Normocytic anemia, Mitral regurgitation, Prolonged prothrom... |
ORPHA:99147 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Vomiting, Nausea, Abdominal distention, Malabsorption, Dyspepsia, Abnormal small intestinal mucos... |
ORPHA:103907 |
Diarrhea 2, With Microvillus Atrophy |
|
Protracted diarrhea, Malnutrition, Abnormal intestine morphology, Villous atrophy |
OMIM:251850 |
Pyoderma Gangrenosum |
|
Inflammation of the large intestine, Myelodysplasia, Pustule, Myositis, Increased circulating ant... |
ORPHA:48104 |
Folate Malabsorption, Hereditary |
|
Feeding difficulties in infancy, Neutropenia, Leukopenia, Failure to thrive, Malabsorption, Throm... |
OMIM:229050 |
Inflammatory Bowel Disease 13 |
|
Inflammation of the large intestine |
OMIM:612244 |
Inflammatory Bowel Disease (Crohn Disease) 19 |
|
Inflammation of the large intestine |
OMIM:612278 |
Ganglioneuroma |
|
Colorectal polyposis, Hypertension, Neoplasm of the adrenal gland, Functional intestinal obstruct... |
ORPHA:251992 |
Pseudomyxoma Peritonei |
|
Nausea and vomiting, Inflammation of the large intestine, Weight loss, Intestinal obstruction, Ab... |
ORPHA:26790 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Inflammation of the large intestine, ... |
OMIM:301000 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Villous atrophy, Small for gestational age, Failure to thrive, Arthritis, Intractable diarrhea |
OMIM:613217 |
Diarrhea 6 |
|
Diarrhea, Abdominal pain |
OMIM:614616 |
Desmoid Tumor |
|
Neoplasm of the skin, Desmoid tumors, Malabsorption, Fibroma, Gastrointestinal hemorrhage, Intest... |
ORPHA:873 |
Amoebiasis Due To Entamoeba Histolytica |
|
Leukocytosis, Bloody diarrhea, Constrictive pericarditis, Lung abscess, Gastrointestinal dysmotil... |
ORPHA:67 |
Burkitt Lymphoma |
|
Abnormality of the spleen, Abnormality of the ovary, Nausea and vomiting, Intestinal obstruction,... |
ORPHA:543 |
Bannayan-Riley-Ruvalcaba syndrome |
|
High palate, Meningioma, Hemangioma, Intussusception, Lipoma, Hashimoto thyroiditis, Supernumerar... |
OMIM:153480 |
Angioedema, Hereditary, 8 |
|
Abdominal pain, Diarrhea, Episodic vomiting |
OMIM:619367 |
Duodenal Neuroendocrine Tumor |
|
Right ventricular failure, Tricuspid stenosis, Insulinoma, Melena, Intestinal carcinoid, Palpitat... |
ORPHA:100076 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Agammaglobulinemia, Neutropenia, Chronic sinusitis, Recurrent otitis media, Recurrent pneumonia, ... |
OMIM:613502 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Villous atrophy, Vomiting, Failure to thrive, Diarrhea, Protein-losing enteropathy |
OMIM:615863 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
Cowden Syndrome 1 |
|
High palate, Meningioma, Transitional cell carcinoma of the bladder, Goiter, Carcinoma, Decreased... |
OMIM:158350 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Pulmonary insufficiency, B lymphocytopenia, Sinusitis, Inflammatory abnormality of the skin, Fail... |
ORPHA:277 |
X-Linked Agammaglobulinemia |
|
Sinusitis, Agammaglobulinemia, Neutropenia, Recurrent cutaneous abscess formation, Failure to thr... |
ORPHA:47 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Decreased circulating antibody level, Secretory diarrhea, Cryptorchidism, Protein-losing enteropa... |
OMIM:618183 |
Epidermolysis Bullosa Acquisita |
|
Inflammation of the large intestine, Abdominal pain |
ORPHA:46487 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Colitis, Perioral eczema, Recurrent aphthous stomatitis, Diarrhea, Recurrent sinusitis |
OMIM:613960 |
Secretory Component Deficiency |
|
Intermittent diarrhea, Chronic intestinal candidiasis |
OMIM:269650 |
Carney-Stratakis Syndrome |
|
Dysphagia, Gastrointestinal stroma tumor, Weight loss, Paraganglioma, Intestinal obstruction, Gas... |
ORPHA:97286 |
Holoprosencephaly, Recurrent Infections, And Monocytosis |
|
Failure to thrive, Cryptorchidism, Recurrent skin infections, Monocytosis |
OMIM:610680 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
High palate, Cleft palate, Neutropenia, Leukopenia, Monocytosis, Failure to thrive, Mitral regurg... |
OMIM:612541 |
Immunodeficiency, Common Variable, 2 |
|
Bronchiectasis, Decreased circulating IgA level, Decreased circulating IgG level, Recurrent otiti... |
OMIM:240500 |
Coproporphyria, Hereditary |
|
Hypertension, Vomiting, Increased fecal coproporphyrin 3, Tachycardia, Splenomegaly, Diarrhea, Ab... |
OMIM:121300 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of naive T cells, Pneumonia, Lymphoproliferative disorder, Failure to thrive... |
ORPHA:276 |
Immunodeficiency 58 |
|
Dysphagia, Eczema, Decreased specific antibody response to vaccination, Allergic rhinitis, Helico... |
OMIM:618131 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Abnormal intestine morphology, Eczema, Neutropenia in presence of anti-neutropil antibodies, Hepa... |
ORPHA:391487 |
Shigellosis |
|
Myocarditis, Tenesmus, Uveitis, Abdominal pain, Conjunctivitis, Leukocytosis, Bloody mucoid diarr... |
ORPHA:810 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Syncope, Normochromic anemia, Chronic myelomonocytic leukemia, Splenomegaly, Eosinophilia, Diarrh... |
ORPHA:98849 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Colitis |
ORPHA:88643 |
Rabies |
|
Sudden cardiac death, Nausea and vomiting, Diarrhea, Anorexia |
ORPHA:770 |
Carney Triad |
|
Adrenocortical adenoma, Hypertension, Nausea and vomiting, Gastrointestinal stroma tumor, Anorexi... |
ORPHA:139411 |
Gastrointestinal Stromal Tumor |
|
Dysphagia, Gastrointestinal stroma tumor, Intestinal obstruction, Constipation, Neurofibromas |
OMIM:606764 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Pneumonia, Bronchiectasis, Macroglossia, T lymphocytopenia, Failure to thrive, Decreas... |
OMIM:242860 |
X-Linked Lymphoproliferative Disease |
|
Myocarditis, Inflammation of the large intestine, Decreased circulating antibody level, Splenomeg... |
ORPHA:2442 |
Immunodeficiency 27A |
|
Leukocytosis, Thrombocytosis, Anorexia, Pneumonia, Weight loss, Salmonella osteomyelitis, Anemia,... |
OMIM:209950 |
Familial Adenomatous Polyposis 1 |
|
Adrenocortical carcinoma, Osteoma, Astrocytoma, Adrenocortical adenoma, Adenomatous colonic polyp... |
OMIM:175100 |
Trichohepatoenteric Syndrome 2 |
|
Villous atrophy, Small for gestational age, Colitis, Failure to thrive, Hepatitis, Diarrhea |
OMIM:614602 |
Angioma, Hereditary Neurocutaneous |
|
Hemangioma, Gastrointestinal hemorrhage |
OMIM:106070 |
Common Variable Immunodeficiency |
|
Failure to thrive in infancy, Gastrointestinal stroma tumor, Pneumonia, Bronchiectasis, Chronic o... |
ORPHA:1572 |
Kaposi Sarcoma |
|
Neoplasm of the skin, Abnormality of the spleen, Lymphoproliferative disorder, Hemangioma, Weight... |
ORPHA:33276 |
Congenital Short Bowel Syndrome |
|
Vomiting, Failure to thrive, Congenital shortened small intestine, Abnormal peristalsis, Intestin... |
OMIM:615237 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Telangiectasia, Juvenile gastrointestinal polyposis, Mitral regurgitation, Gastrointestinal carci... |
OMIM:175050 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Abnormal intestine morphology, Eczema, Neutropenia, Tubulointerstitial nephritis, Neutropenia in ... |
ORPHA:37042 |
Bile Acid Malabsorption, Primary, 1 |
|
Failure to thrive, Chronic diarrhea, Steatorrhea, Increased fecal bile acid, Fat malabsorption |
OMIM:613291 |
Immunodeficiency 82 With Systemic Inflammation |
|
Duodenal ulcer, Cholesteatoma, Hepatitis, Splenomegaly, Gastritis, Crohn's disease, Decreased cir... |
OMIM:619381 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Anorexia, Decreased circulating total IgA, Erythroderma, Pneumonia, Protracted diarrhea, Failure ... |
ORPHA:169160 |
Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Vomiting, Dependency on parenteral nutrition, Bronchiectasis, Abdominal distenti... |
OMIM:619445 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Giant cell hepatitis, Cholelithiasis, Hematochezia |
ORPHA:79095 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Decreased circulating antibody level, Colitis, Esophageal stenosis, Leukopenia |
OMIM:615190 |
Familial Pancreatic Carcinoma |
|
Nausea and vomiting, Anorexia, Intestinal pseudo-obstruction, Functional intestinal obstruction, ... |
ORPHA:1333 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Sinusitis, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Decreased circulati... |
ORPHA:572 |
Sepsis In Premature Infants |
|
Neutropenia, Petechiae, Functional abnormality of the gastrointestinal tract, Abdominal distentio... |
ORPHA:90051 |
Diarrhea 11, Malabsorptive, Congenital |
|
Diarrhea, Villous atrophy |
OMIM:618662 |
Immunodeficiency 69 |
|
Thrombocytosis, Leukocytosis, Failure to thrive, Anemia, Splenomegaly, Hepatosplenomegaly, Skin r... |
OMIM:618963 |
Refractory Celiac Disease |
|
Jejunitis, Macrocytic anemia, Inflammatory abnormality of the skin, Villous atrophy, Normocytic a... |
ORPHA:398063 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Folliculitis, Rectovaginal fistula, Perianal abscess, Enterocutaneous fistula, Enterocolitis |
OMIM:612567 |
Immunodeficiency 21 |
|
Abnormal natural killer cell morphology, Myelodysplasia, Neutropenia, Lymphopenia, Myeloid leukem... |
OMIM:614172 |
Immunodeficiency, Common Variable, 1 |
|
B lymphocytopenia, Decreased proportion of class-switched memory B cells, Pneumonia, Neutropenia ... |
OMIM:607594 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Thrombocytosis, Abnormal intestine morphology, Vomiting, Budd-Chiari syndrome, Iron deficiency an... |
OMIM:226300 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Ecchymosis, Intracranial hemorrhage, Petechiae, Melena, Spontaneous hematomas, Cephalohematoma, G... |
ORPHA:853 |
Immunodeficiency 92 |
|
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... |
OMIM:619652 |
Rhabdoid Tumor |
|
Hypertension, Nausea and vomiting, Neoplasm of the central nervous system, Thrombocytopenia, Weig... |
ORPHA:69077 |
Diffuse Cutaneous Mastocytosis |
|
Abnormality of the spleen, Erythroderma, Vomiting, Myeloproliferative disorder, Gastrointestinal ... |
ORPHA:79456 |
Glycogen Storage Disease Ixb |
|
Diarrhea |
OMIM:261750 |
Monosomy 13Q34 |
|
Prolonged prothrombin time, Epistaxis, Pulmonic stenosis, Obesity, Hematochezia |
ORPHA:96168 |
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia |
|
Unilateral vestibular Schwannoma, Carcinoma |
OMIM:603641 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Pneumonia, Failur... |
OMIM:300400 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Dysphagia, Cachexia, Vomiting, Nausea, Gastrointestinal dysmotility, Weight loss, Abdominal diste... |
ORPHA:298 |
20Q13.33 Microdeletion Syndrome |
|
Failure to thrive in infancy, Small for gestational age, Hematochezia |
ORPHA:261311 |
Familial Colorectal Cancer Type X |
|
Basal cell carcinoma, Urinary tract neoplasm, Gastrointestinal hemorrhage, Neoplasm of the skelet... |
ORPHA:440437 |
Autoimmune Hepatitis |
|
Spider hemangioma, Inflammation of the large intestine, Hepatocellular carcinoma, Glomerulonephri... |
ORPHA:2137 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Diarrhea, Vomiting |
OMIM:605911 |
Multiple Endocrine Neoplasia Type 1 |
|
Duodenal ulcer, Shortened QT interval, Thyroid carcinoma, Meningioma, Goiter, Gingival fibromatos... |
ORPHA:652 |
Li-Fraumeni Syndrome |
|
Adrenocortical carcinoma, Prostate neoplasm, Choriocarcinoma, Acute leukemia, Lung adenocarcinoma... |
OMIM:151623 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Leukocytosis, Bloody diarrhea, Rectal prolapse, Hypertension, Schistocytosis, Vomiting, Peritonit... |
ORPHA:90038 |
Infection-Related Hemolytic Uremic Syndrome |
|
Brain abscess, Myocarditis, Septic arthritis, Intussusception, Hemolytic anemia, Diarrhea, Abdomi... |
ORPHA:544482 |
Blue Rubber Bleb Nevus |
|
Cavernous hemangioma, Gastrointestinal infarctions, Visceral angiomatosis, Volvulus, Microcytic a... |
ORPHA:1059 |
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma |
|
Abnormal intestine morphology, Diarrhea |
OMIM:609313 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Vomiting, Failure to thrive, Abdominal distention, Anemia, Decreased liver function, Thrombocytop... |
OMIM:608104 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Failure to thrive, Malabsorption, Splenomegaly, Gastrointestinal hemorrhage, Abnormal bleeding |
ORPHA:79301 |
Desmoplastic Small Round Cell Tumor |
|
Ovarian neoplasm, Cachexia, Neoplasm of the lung, Neoplasm of the central nervous system, Nausea ... |
ORPHA:83469 |
Cyclic Neutropenia |
|
Sinusitis, Peritonitis, Periodontitis, Perianal abscess, Otitis media, Recurrent skin infections,... |
ORPHA:2686 |
Lichen Sclerosus Et Atrophicus |
|
Squamous cell carcinoma, Carcinoma |
OMIM:151590 |
Lynch Syndrome |
|
Ovarian neoplasm, Basal cell carcinoma, Urinary tract neoplasm, Gastrointestinal hemorrhage, Neop... |
ORPHA:144 |
Hereditary Folate Malabsorption |
|
Nausea and vomiting, Anorexia, Failure to thrive, Cheilitis, Megaloblastic anemia, Decreased circ... |
ORPHA:90045 |
Macrophage Activation Syndrome |
|
Increased circulating interleukin 6, Neutropenia, Hepatitis, Anemia, Splenomegaly, Decreased live... |
ORPHA:158061 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Abnormal erythrocyte enzyme level, Nausea, Abdominal distention, Increased fecal coproporphyrin 3... |
ORPHA:100924 |
Colorectal Cancer, Susceptibility To, 10 |
|
Endometrial carcinoma, Colorectal polyposis, Carcinoma |
OMIM:612591 |
Primary Intestinal Lymphangiectasia |
|
Increased stool alpha1-antitrypsin concentration, Functional abnormality of the gastrointestinal ... |
ORPHA:90362 |
Cholesteryl Ester Storage Disease |
|
Nausea and vomiting, Esophageal varix, Splenomegaly, Hepatic failure, Diarrhea |
ORPHA:75234 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Brain abscess, Spontaneous, recurrent epistaxis, Melena, Transient ischemic attack, Nasal mucosa ... |
OMIM:600376 |
Acquired Hypertrichosis Lanuginosa |
|
Ovarian neoplasm, Neoplasm of the breast, Neoplasm of the respiratory system, Macroglossia, Weigh... |
ORPHA:2221 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Failure to thrive in infancy, Bronchiectasis, Increased circulating interleukin 8, Chronic diarrh... |
OMIM:301220 |
Mastocytosis |
|
Nausea and vomiting, Anorexia, Acute leukemia, Chronic leukemia, Telangiectasia of the skin, Sple... |
ORPHA:98292 |
Immunodeficiency 36 |
|
Chronic lymphatic leukemia, Bronchiectasis, Decreased circulating antibody level, Splenomegaly, C... |
OMIM:616005 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Lactose intolerance, Feeding difficulties in infancy, Abdominal pain, Eosinophilic microabscess f... |
ORPHA:411696 |
Idiopathic Hypereosinophilic Syndrome |
|
Dilated cardiomyopathy, Cholangitis, Feeding difficulties in infancy, Eczema, Abdominal distentio... |
ORPHA:3260 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eczema, Villous atrophy, Neutropenia, Erythroderma, Glomerulonephritis, Coombs-positive hemolytic... |
OMIM:304790 |
Nijmegen Breakage Syndrome |
|
Recurrent infection of the gastrointestinal tract, B lymphocytopenia, Sinusitis, Cleft palate, Rh... |
OMIM:251260 |
Immunodeficiency 46 |
|
Neutropenia, Failure to thrive, Chronic oral candidiasis, Decreased circulating antibody level, A... |
OMIM:616740 |
Neuroendocrine Neoplasm Of Appendix |
|
Ovarian neoplasm, Tricuspid stenosis, Mechanical ileus, Intestinal carcinoid, Abdominal colic, Ad... |
ORPHA:100079 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
High, narrow palate, Failure to thrive, Feeding difficulties, Recurrent otitis media, Overweight,... |
OMIM:619575 |
Waldenström Macroglobulinemia |
|
Anorexia, Normocytic anemia, Gingival bleeding, Leukemia, Monoclonal immunoglobulin M proteinemia... |
ORPHA:33226 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Villous atrophy, Vomiting, Failure to thrive, Hepatic failure, Abnormal bleeding, Diarrhea, Prote... |
OMIM:602579 |
Congenital Sucrase-Isomaltase Deficiency |
|
Abdominal distention, Diarrhea, Vomiting, Abdominal colic |
ORPHA:35122 |
Hyaline Fibromatosis Syndrome |
|
Gingival fibromatosis, Diarrhea |
OMIM:228600 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Eczema, Lymphadenitis, Abscess, Splenomegaly, Crohn's disease, Perianal abscess, Hepatosplenomega... |
OMIM:618935 |
Selective Igm Deficiency |
|
Thyroid carcinoma, Non-infectious meningitis, Neutropenia in presence of anti-neutropil antibodie... |
ORPHA:331235 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Bloody diarrhea, Villous atrophy, Erythroderma, Pustule, Failure to thrive, Duodenitis, Increased... |
OMIM:614328 |
Ppoma |
|
Neoplasm of the small intestine, Intestinal carcinoid, Gastrointestinal hemorrhage, Primary hyper... |
ORPHA:97278 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatocellular carcinoma, Failure to thrive, Splenomegaly, Diarrhea, Fat malabsorption |
OMIM:601847 |
Caroli Syndrome |
|
Portal hypertension, Leukocytosis, Cholangitis, Cholangiocarcinoma, Esophageal varix, Leukopenia,... |
ORPHA:480520 |
Crimean-Congo Hemorrhagic Fever |
|
Myocarditis, Thrombocytopenia, Subdural hemorrhage, Melena, Splenomegaly, Parotitis, Acute pancre... |
ORPHA:99827 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Sinusitis, Eczema, Inflammation of the large intestine, Decreased circulating total IgM, Hemolyti... |
OMIM:600903 |
Multiple Endocrine Neoplasia, Type I |
|
Adrenocortical adenoma, Zollinger-Ellison syndrome, Adenoma sebaceum, Insulinoma, Esophagitis, Th... |
OMIM:131100 |
Somatostatinoma |
|
Neoplasm of the small intestine, Gastrointestinal hemorrhage, Primary hyperparathyroidism, Steato... |
ORPHA:97283 |
Grfoma |
|
Neoplasm of the thymus, Neoplasm of the small intestine, Intestinal carcinoid, Gastrointestinal h... |
ORPHA:97261 |
Dengue Fever |
|
Cerebral hemorrhage, Nausea and vomiting, Gingival bleeding, Leukopenia, Petechiae, Epistaxis, Ga... |
ORPHA:99828 |
Medullary Thyroid Carcinoma |
|
Dysphagia, Neoplasm of the lung, Weight loss, Nodular goiter, Medullary thyroid carcinoma, Primar... |
ORPHA:1332 |
Syndromic Diarrhea |
|
Thrombocytosis, Bloody diarrhea, Increased mean platelet volume, Villous atrophy, Small for gesta... |
ORPHA:84064 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the skin, Neoplasm of the rectum, Meningioma, Adenomatous colonic polyposis, Endometr... |
ORPHA:454840 |
Glucose/Galactose Malabsorption |
|
Failure to thrive, Abdominal distention, Malabsorption, Chronic diarrhea, Hyperactive bowel sounds |
OMIM:606824 |
Diverticulosis, Small-Intestinal |
|
Duodenal diverticula, Jejunal diverticula, Rheumatoid arthritis, Thyroiditis, Jejunoileal diverti... |
OMIM:223320 |
Chylomicron Retention Disease |
|
Vomiting, Failure to thrive, Steatorrhea, Malnutrition, Diarrhea |
OMIM:246700 |
Caspase 8 Deficiency |
|
Eczema, Pneumonia, Decreased circulating IgA level, Failure to thrive, Decreased circulating IgG ... |
OMIM:607271 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Agammaglobulinemia, Chronic sinusitis, Recurrent otitis media, Recurrent pneumonia, Diarrhea, Con... |
OMIM:612692 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Infectious encephalitis, Burkitt lymphoma, Fulminant hepatitis, Decreased circulatin... |
OMIM:308240 |
Enteric Anendocrinosis |
|
Portal hypertension, Diarrhea, Malabsorption, Vomiting |
ORPHA:83620 |
Good Syndrome |
|
Sinusitis, Dysphagia, Bronchiectasis, Decreased circulating antibody level, Anemia, Recurrent ski... |
ORPHA:169105 |
Mpi-Cdg |
|
Portal hypertension, Vomiting, Failure to thrive, Decreased liver function, Gastrointestinal hemo... |
ORPHA:79319 |
Hemorrhagic Fever-Renal Syndrome |
|
Tubulointerstitial nephritis, Petechiae, Melena, Decreased body weight, Diarrhea, Abdominal pain,... |
ORPHA:340 |
Maffucci Syndrome |
|
Neoplasm of the parathyroid gland, Ovarian neoplasm, Dysphagia, Astrocytoma, Goiter, Neoplasm of ... |
ORPHA:163634 |
Celiac Disease, Susceptibility To, 1 |
|
Thrombocytosis, Macrocytic anemia, Eczema, Celiac disease, Stomatitis, Vomiting, Iron deficiency ... |
OMIM:212750 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Inflammation of the large intestine, Decreased mean platelet volume, Failure to thrive, Lymphocyt... |
OMIM:617718 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
B lymphocytopenia, Failure to thrive in infancy, Eczema, Villous atrophy, Erythroderma, Psoriasif... |
OMIM:606367 |
Infantile Myofibromatosis |
|
Neoplasm of the skin, Abnormal intestine morphology, Neoplasm of the lung, Neoplasm of the pancre... |
ORPHA:2591 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Brain abscess, Spontaneous, recurrent epistaxis, Melena, Transient ischemic attack, Nasal mucosa ... |
OMIM:187300 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Portal hypertension, Failure to thrive in infancy, Recurrent aspiration pneumonia, T lymphocytope... |
ORPHA:79124 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pneumonia, Failure to thrive, Recurre... |
OMIM:600802 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Eczema, Bronchiectasis, Macroglossia, Recurrent otitis media, Keratitis, Chronic diarrhea, Increa... |
OMIM:618523 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Vomiting, Failure to thrive, Weight loss, Abdominal distention, Malabsorption, A... |
ORPHA:92050 |
Mental Retardation, Autosomal Dominant 57 |
|
High palate, Feeding difficulties, Otitis media, Diarrhea, Constipation |
OMIM:618050 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Sinusitis, B lymphocytopenia, Pneumonia, Failure to thrive, Decreased circulating IgA level, Redu... |
OMIM:102700 |
Secondary Intestinal Lymphangiectasia |
|
Right ventricular failure, Constrictive pericarditis, Volvulus, Decreased circulating antibody le... |
ORPHA:90363 |
Glucagonoma |
|
Stomatitis, Normochromic anemia, Gastrointestinal hemorrhage, Primary hyperparathyroidism, Steato... |
ORPHA:97280 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Neutropenia, Erythroderma, Failure to thrive, Increased circulating IgA level, Increased circulat... |
ORPHA:169154 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Neoplasm of the lung, Neoplasm of the rectum, Rectal prolapse, Anal canal squamous cell carcinoma... |
ORPHA:424019 |
Wild Type Abeta2M Amyloidosis |
|
Abnormal intestine morphology, Dysphagia, Intestinal pseudo-obstruction, Macroglossia, Arthritis,... |
ORPHA:85446 |
Specific Granule Deficiency 2 |
|
Neutropenia, Myelodysplasia, Absent neutrophil specific granules, Failure to thrive, Recurrent ot... |
OMIM:617475 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Cachexia, Vomiting, Gastrointestinal dysmotility, Weight loss, Intestinal perforation, Slender bu... |
OMIM:603041 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Inflammation of the large intestine, Esophageal varix, Failure to thrive, Decreased specific anti... |
OMIM:614576 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Atopic dermatitis, Failure to thrive, Membranous nephropathy, Colonic eosinophilia, Hepatosplenom... |
OMIM:618999 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Bronchiectasis, Abscess, Chronic oral can... |
OMIM:150550 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Inflammation of the large intestine, Weight loss, Anemia, Arthritis, Acn... |
ORPHA:324964 |
Typhoid |
|
Infectious encephalitis, Epistaxis, Splenomegaly, Gastrointestinal hemorrhage, Cardiac arrest, Sk... |
ORPHA:99745 |
Bernard-Soulier Syndrome |
|
Menorrhagia, Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding time, ... |
OMIM:231200 |
Brunner Syndrome |
|
Diarrhea |
OMIM:300615 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Gingival bleeding, Post-partum hemorrhage, Anemia, Melena, Ani... |
ORPHA:98870 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Peritonitis, Increased circulating IgA level, Arthritis, Intestinal obstruction, Gastrointestinal... |
ORPHA:343 |
Dracunculiasis |
|
Nausea and vomiting, Recurrent cutaneous abscess formation, Arthritis, Skin rash, Diarrhea |
ORPHA:231 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Tubulointerstitial nephritis, Petechiae, Gastrointestinal hemorrhage, Hepatosplenomegaly, Diarrhe... |
ORPHA:85450 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Hypertension, Pustule, Vomiting, Failure to thrive, Recurrent pneumonia, Diarrhea |
OMIM:616069 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Leukocytosis, Bloody diarrhea, Thrombocytosis, Failure to thrive, Increased circulating IgG level... |
OMIM:618213 |
Esophagitis, Eosinophilic, 1 |
|
Dysphagia, Vomiting, Failure to thrive, Esophagitis, Eosinophilia |
OMIM:610247 |
Esophagitis, Eosinophilic, 2 |
|
Dysphagia, Vomiting, Failure to thrive, Esophagitis, Eosinophilia |
OMIM:613412 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Leukocytosis, Failure to thrive in infancy, Increased proportion of CD4-positive T cells, Increas... |
OMIM:617099 |
+173470 integrin, beta-3 |
|
Post-transfusion thrombocytopenia, Intracranial hemorrhage, Menorrhagia, Gingival bleeding, Epist... |
OMIM:173470 |
Systemic Capillary Leak Syndrome |
|
Myocarditis, Leukocytosis, Pericarditis, Multiple myeloma, Weight loss, Pancreatitis, Diarrhea, A... |
ORPHA:188 |
Plasma Clot Retraction Factor, Deficiency Of |
|
Gastrointestinal hemorrhage, Bruising susceptibility |
OMIM:262800 |
Hyper-Igd Syndrome |
|
Leukocytosis, Increased circulating IgD level, Vomiting, Increased circulating IgA level, Lymphad... |
OMIM:260920 |
Benign Recurrent Intrahepatic Cholestasis |
|
Nausea and vomiting, Anorexia, Hepatocellular carcinoma, Weight loss, Cholelithiasis, Pancreatiti... |
ORPHA:65682 |
Sapho Syndrome |
|
Psoriasiform dermatitis, Inflammation of the large intestine, Pustule, Synovitis, Acne, Malabsorp... |
ORPHA:793 |
American Trypanosomiasis |
|
Myocarditis, Aganglionic megacolon, Infectious encephalitis, Abnormal large intestine physiology,... |
ORPHA:3386 |
Diarrhea 4, Malabsorptive, Congenital |
|
Failure to thrive, Diarrhea, Vomiting |
OMIM:610370 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Recurrent infection of the gastrointestinal tract, B lymphocytopenia, Impaired lymphocyte transfo... |
ORPHA:35078 |
Pgm3-Cdg |
|
Lactose intolerance, Eczema, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, C... |
ORPHA:443811 |
Chylomicron Retention Disease |
|
Vomiting, Acanthocytosis, Failure to thrive, Abdominal distention, Steatorrhea, Diarrhea, Fat mal... |
ORPHA:71 |
Snakebite Envenomation |
|
Ecchymosis, Intracranial hemorrhage, Gingival bleeding, Vomiting, Pseudobulbar paralysis, Epistax... |
ORPHA:449285 |
Lysosomal Acid Lipase Deficiency |
|
Portal hypertension, Esophageal varix, Vomiting, Leukopenia, Failure to thrive, Protuberant abdom... |
OMIM:278000 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
B lymphocytopenia, Neutropenia, Leukopenia, Partial absence of specific antibody response to Haem... |
OMIM:618986 |
Cog7-Cdg |
|
Small for gestational age, Failure to thrive, Feeding difficulties, Hepatosplenomegaly, Diarrhea |
ORPHA:79333 |
Ileal Neuroendocrine Tumor |
|
Right ventricular failure, Tricuspid stenosis, Small intestine carcinoid, Palpitations, Intestina... |
ORPHA:100078 |
Jejunal Neuroendocrine Tumor |
|
Right ventricular failure, Tricuspid stenosis, Small intestine carcinoid, Palpitations, Intestina... |
ORPHA:100077 |
Polycythemia Vera |
|
Cerebral hemorrhage, Thrombocytosis, Leukocytosis, Increased red blood cell mass, Budd-Chiari syn... |
OMIM:263300 |
Isolated Polycystic Liver Disease |
|
Feeding difficulties in infancy, Abdominal distention, Gastrointestinal hemorrhage, Gastroesophag... |
ORPHA:2924 |
Proprotein Convertase 1/3 Deficiency |
|
Obesity, Diarrhea, Villous atrophy, Malabsorption |
OMIM:600955 |
Combined Malonic And Methylmalonic Aciduria |
|
Failure to thrive, Diarrhea, Vomiting |
OMIM:614265 |
Neuroblastoma, Susceptibility To, 1 |
|
Hypertension, Neuroblastoma, Ganglioneuroblastoma, Failure to thrive, Weight loss, Anemia, Gangli... |
OMIM:256700 |
Giant platelet syndrome with thrombocytopenia |
|
Gastrointestinal hemorrhage, Giant platelets, Prolonged bleeding after dental extraction, Thrombo... |
OMIM:137560 |
Multiple Endocrine Neoplasia Type 4 |
|
Insulinoma, Renal angiomyolipoma, Pituitary corticotropic cell adenoma, Parathyroid adenoma, Diar... |
ORPHA:276152 |
Blue Rubber Bleb Nevus |
|
Rectal prolapse, Hemangioma, Iron deficiency anemia, Volvulus, Intussusception, Intestinal bleedi... |
OMIM:112200 |
Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic squamous cell carcinoma, Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcin... |
OMIM:606719 |
Immunodeficiency 15B |
|
Chronic diarrhea, Agammaglobulinemia, Decreased circulating antibody level, Failure to thrive |
OMIM:615592 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... |
OMIM:603909 |
Simple Cryoglobulinemia |
|
Raynaud phenomenon, Gastrointestinal hemorrhage, Vasculitis, Abdominal pain, Hypertension, Perica... |
ORPHA:91139 |
Paragangliomas 4 |
|
Adrenal pheochromocytoma, Neuroblastoma, Extraadrenal pheochromocytoma, Gastrointestinal stroma t... |
OMIM:115310 |
Iga Pemphigus |
|
Pustule, Increased circulating IgA level, Neutrophilic infiltration of the skin, Monoclonal eleva... |
ORPHA:555905 |
Polycythemia Vera |
|
Hypertension, Myelodysplasia, Gingival bleeding, Acute leukemia, Budd-Chiari syndrome, Weight los... |
ORPHA:729 |
Graft Versus Host Disease |
|
Inflammatory abnormality of the skin, Vomiting, Stomatitis, Nausea, Failure to thrive, Fasciitis,... |
ORPHA:39812 |
Familial Hypofibrinogenemia |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Gingival bleeding |
ORPHA:101041 |
Familial Dysfibrinogenemia |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Gingival bleeding |
ORPHA:98881 |
Multiple Endocrine Neoplasia, Type Iib |
|
High, narrow palate, Failure to thrive in infancy, Aganglionic megacolon, High palate, Nodular go... |
OMIM:162300 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Failure to thrive, Epistaxis, Cholelithiasis, Splenomegaly, Diarrhea, Fat malabsorption |
OMIM:211600 |
Late-Onset Isolated Acth Deficiency |
|
Macrocytic anemia, Hypoparathyroidism, Nausea and vomiting, Normocytic anemia, Anorexia, Celiac d... |
ORPHA:199299 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Dysphagia, Spontaneous esophageal perforation, Anemia, Esophageal stricture, Squamous cell carcin... |
OMIM:226600 |
Whipple Disease |
|
Myocarditis, Cachexia, Anorexia, Pericarditis, Infectious encephalitis, Myositis, Anemia, Malabso... |
ORPHA:3452 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Abnormality of serum cytokine level, Increased circulating interleukin 6, Reduced ejection fracti... |
ORPHA:542323 |
Glanzmann Thrombasthenia |
|
Ecchymosis, Menorrhagia, Gingival bleeding, Spontaneous, recurrent epistaxis, Spontaneous hematom... |
ORPHA:849 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Myelodysplasia, Vomiting, Nausea, Failure to thrive, Feeding difficulties, Cerebral ischemia, Rey... |
ORPHA:927 |
Porphyria, Acute Intermittent |
|
Hypertension, Hepatocellular carcinoma, Vomiting, Nausea, Tachycardia, Paralytic ileus, Diarrhea,... |
OMIM:176000 |
Carcinoid Syndrome |
|
Right ventricular failure, Facial telangiectasia, Nausea and vomiting, Atypical pulmonary carcino... |
ORPHA:100093 |
Budd-Chiari Syndrome |
|
Gastrointestinal infarctions, Esophageal varix, Peritonitis, Weight loss, Malabsorption, Splenome... |
ORPHA:131 |
Boutonneuse Fever |
|
Petechiae, Leukopenia, Nausea, Increased circulating IgG level, Vasculitis, Increased circulating... |
ORPHA:83313 |
Cheilitis Glandularis |
|
Abnormal salivary gland morphology, Squamous cell carcinoma, Neoplasm |
ORPHA:1221 |
Congenital Disorder Of Glycosylation, Type Id |
|
High palate, Villous atrophy, Vomiting, Failure to thrive, Bifid uvula, Diarrhea |
OMIM:601110 |
Mucoepithelial Dysplasia, Hereditary |
|
Pneumonia, Melena, Chronic mucocutaneous candidiasis, Chronic diarrhea, Recurrent pneumonia, Eosi... |
OMIM:158310 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased circulating IgA level, Interstitial pneumonitis, Ulcerative colitis, Decreased circulat... |
OMIM:614878 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Esophageal varix, Retinal telangiectasia, Gastrointestinal hemorrhage, Pancytopenia, Portal hyper... |
OMIM:617341 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa, Squa... |
OMIM:613736 |
Rapadilino Syndrome |
|
Cleft palate, High, narrow palate, High palate, Diarrhea |
OMIM:266280 |
Thrombotic Thrombocytopenic Purpura |
|
Microangiopathic hemolytic anemia, Myocardial infarction, Reticulocytosis, Thrombocytopenia, Diar... |
ORPHA:54057 |
Immunodeficiency, Common Variable, 7 |
|
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... |
OMIM:614699 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Inflammation of the large intestine, Periodontitis, Diarrhea, Bruising susceptibility, Hypertensi... |
ORPHA:79259 |
Pancreatic Colipase Deficiency |
|
Megaloblastic anemia, Cholelithiasis, Chronic diarrhea, Steatorrhea, Exocrine pancreatic insuffic... |
ORPHA:309108 |
Thymic Aplasia |
|
Recurrent infection of the gastrointestinal tract, Sinusitis, Eczematoid dermatitis, Decreased pr... |
ORPHA:83471 |
Immunodeficiency 25 |
|
Erythroderma, Complete or near-complete absence of specific antibody response to tetanus vaccine,... |
OMIM:610163 |
Myopathy, Myofibrillar, 1 |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Restric... |
OMIM:601419 |
Kindler Epidermolysis Bullosa |
|
Dysphagia, Inflammation of the large intestine, Cheilitis, Abnormality of the anus, Esophagitis, ... |
ORPHA:2908 |
Omenn Syndrome |
|
Leukocytosis, Erythroderma, Pneumonia, Failure to thrive, Abnormal lymphocyte morphology, Anemia,... |
ORPHA:39041 |
Rift Valley Fever |
|
Anorexia, Infectious encephalitis, Gingival bleeding, Hepatitis, Anemia, Increased circulating Ig... |
ORPHA:319251 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Right ventricular failure, Neuroendocrine neoplasm, Facial telangiectasia, Neoplasm of the lung, ... |
ORPHA:100085 |
Nut Midline Carcinoma |
|
Neuroblastoma, Pancreatic squamous cell carcinoma, Leukemia, Oropharyngeal squamous cell carcinom... |
ORPHA:443167 |
Gist-Plus Syndrome |
|
Intussusception, Gastrointestinal stroma tumor, Intestinal polyposis |
OMIM:175510 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Protracted diarrhea, Failure to thrive, Decreased circulating IgA level, D... |
ORPHA:331206 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Failure to thrive, Splenomegaly, Steatorrhea, Hepatic failure, Diarrhea |
OMIM:235555 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Keratoconjunctivitis sicca, Colitis, Iron deficiency anemia, Weight loss, Abdominal distention, S... |
ORPHA:309031 |
Vipoma |
|
Normochromic anemia, Primary hyperparathyroidism, Parathyroid adenoma, Nausea and vomiting, Neopl... |
ORPHA:97282 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Giant cell hepatitis, Failure to thrive, Splenomegaly, Steatorrhea, Hepatic failure, Diarrhea, Fa... |
OMIM:607765 |
Mirage Syndrome |
|
Intracranial hemorrhage, Myelodysplasia, Leukopenia, Petechiae, Anemia, Chronic diarrhea, Achalas... |
OMIM:617053 |
Visceral Myopathy 1 |
|
Dysphagia, Aganglionic megacolon, Megaduodenum, Vomiting, Intestinal pseudo-obstruction, Abdomina... |
OMIM:155310 |
Omenn Syndrome |
|
B lymphocytopenia, Erythroderma, Pneumonia, Failure to thrive, Hypoplasia of the thymus, Anemia, ... |
OMIM:603554 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Bile duct proliferation, Diarrhea, Malabsorption, Splenomegaly |
OMIM:602347 |
Hepatoportal Sclerosis |
|
Esophageal varix, Hepatocellular carcinoma, Leukopenia, Prolonged prothrombin time, Anemia, Gastr... |
ORPHA:64743 |
Immunodeficiency 87 And Autoimmunity |
|
Hemolytic anemia, Dilated cardiomyopathy, Third degree atrioventricular block, Cleft palate, Vill... |
OMIM:619573 |
Gastroesophageal Reflux |
|
Barrett esophagus, Gastroesophageal reflux, Esophagitis, Esophageal neoplasm |
OMIM:109350 |
Primary Sclerosing Cholangitis |
|
Neoplasm of the gallbladder, Cholangiocarcinoma, Prolonged prothrombin time, Hepatitis, Splenomeg... |
ORPHA:171 |
Polymyositis |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Anorexia, Pericarditis, Weight loss, Arthrit... |
ORPHA:732 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Anorexia, Paroxysmal atrial tachycardia, Megaloblastic anemia, Cardiac arrest, Congestive heart f... |
ORPHA:49827 |
Immune Thrombocytopenia |
|
Cerebral hemorrhage, Gingival bleeding, Petechiae, Epistaxis, Gastrointestinal hemorrhage, Purpur... |
ORPHA:3002 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Failure to thrive, Hepatitis, Splenomegaly, Steatorrhea, Hepatic failure, Diarrhea |
OMIM:613812 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Leukocytosis, Bruising susceptibility, Pericarditis, Vomiting, Peritonitis, Myositis, Fasciitis, ... |
ORPHA:32960 |
Multiple Endocrine Neoplasia, Type Iv |
|
Pancreatic endocrine tumor, Hashimoto thyroiditis, Carcinoma, Pituitary adenoma, Carcinoid tumor,... |
OMIM:610755 |
Cocaine Intoxication |
|
Tubulointerstitial nephritis, Ventricular arrhythmia, Diffuse alveolar hemorrhage, Abdominal pain... |
ORPHA:90068 |
Acute Lung Injury |
|
Shock, Abnormality of serum cytokine level, Increased circulating interleukin 6, Pneumonia, Acute... |
ORPHA:178320 |
Trichothiodystrophy 1, Photosensitive |
|
Keratoconjunctivitis sicca, Telangiectasia, Erythroderma, Small for gestational age, Decreased ci... |
OMIM:601675 |
Immunodeficiency 59 And Hypoglycemia |
|
Herpes simplex encephalitis, High palate, Decreased proportion of class-switched memory B cells, ... |
OMIM:233600 |
Relapsing Fever |
|
Leukocytosis, Leukopenia, Vomiting, Prolonged prothrombin time, Epistaxis, Anemia, Tachycardia, N... |
ORPHA:91547 |
Neurofibroma |
|
Spinal meningioma, Plexiform neurofibroma, Neoplasm of the breast, Neoplasia of the pleura, Spina... |
ORPHA:252183 |
Congenital Toxoplasmosis |
|
Thrombocytopenia, Failure to thrive in infancy, Diarrhea, Anemia |
ORPHA:858 |
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Megaloblastic anemia, Gastritis, Abnormal erythrocyte morphology, Diarrhea, Folate-unresponsive m... |
ORPHA:2575 |
Necrotizing Enterocolitis |
|
Shock, Leukocytosis, Bloody diarrhea, Neutropenia, Vomiting, Peritonitis, Small for gestational a... |
ORPHA:391673 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Neoplasm of the lung, Esophageal neoplasm, Stomach cancer, Adenocarcinoma of the small intestine,... |
ORPHA:79501 |
Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Neutropenia, Vomiting, Failure to thrive, Decreased circulating IgA level, Dec... |
OMIM:275350 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Corneal neovascularization, Squamous cell carcinoma, Carcinoma |
OMIM:615225 |
Immunodeficiency 56 |
|
Recurrent infection of the gastrointestinal tract, Cholangitis, Bronchiectasis, Failure to thrive... |
OMIM:615207 |
Cheilitis Glandularis |
|
Cheilitis, Squamous cell carcinoma, Carcinoma |
OMIM:118330 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Dilated cardiomyopathy, Leukopenia, Failure to thrive, Chronic diarrhea, Esophageal stricture, Pa... |
OMIM:613989 |
Adult Acute Respiratory Distress Syndrome |
|
Shock, Increased circulating interleukin 6, Pneumonia, Pancreatitis, Vasculitis, Abnormal serum i... |
ORPHA:70578 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Right ventricular failure, Syncope, Inflammation of the large intestine, Abnormal T-wave, Palpita... |
ORPHA:70591 |
Autoerythrocyte Sensitization Syndrome |
|
Ecchymosis, Thrombocytosis, Menorrhagia, Intracranial hemorrhage, Superficial dermal perivascular... |
ORPHA:324636 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vii |
|
Diarrhea, Constipation |
OMIM:615548 |
Mitchell-Riley Syndrome |
|
Pancreatic hypoplasia, Duodenal atresia, Annular pancreas, Malabsorption, Jejunal atresia, Intest... |
OMIM:615710 |
Yao Syndrome |
|
Keratoconjunctivitis sicca, Inflammatory abnormality of the skin, Pericarditis, Xerostomia, Weigh... |
OMIM:617321 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Recurrent infection of the gastrointestinal tract, Failure to thrive, Feeding difficulties, Splen... |
OMIM:613489 |
Immunodeficiency, Common Variable, 14 |
|
Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased specifi... |
OMIM:617765 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Weight loss, Anemia, Neutrophilia, Abnormal testis morphology, Diarrhea, Abdominal... |
ORPHA:54251 |
Attrv30M Amyloidosis |
|
Atrioventricular block, Weight loss, Cardiomyopathy, Diarrhea, Arrhythmia, Constipation |
ORPHA:85447 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Neutropenia, Stomatitis, Failure to thrive, Decreased circulating IgA level, Decreased circulatin... |
OMIM:308230 |
Pediatric Systemic Lupus Erythematosus |
|
Microangiopathic hemolytic anemia, Vomiting, Leukopenia, Myositis, Abdominal distention, Discoid ... |
ORPHA:93552 |
Cholestasis-Lymphedema Syndrome |
|
Nausea and vomiting, Splenomegaly, Gastrointestinal hemorrhage, Portal hypertension, Abdominal pa... |
ORPHA:1414 |
Agammaglobulinemia, X-Linked |
|
Sinusitis, Enteroviral hepatitis, Agammaglobulinemia, Infectious encephalitis, Pyoderma, Pneumoni... |
OMIM:300755 |
Mismatch Repair Cancer Syndrome 1 |
|
Neuroblastoma, Astrocytoma, Plexiform neurofibroma, Adenocarcinoma of the small intestine, Adenom... |
OMIM:276300 |
Shwachman-Diamond Syndrome 2 |
|
High palate, Neutropenia, Normocytic anemia, Thrombocytopenia, Failure to thrive, Prolonged proth... |
OMIM:617941 |
Rothmund-Thomson Syndrome Type 1 |
|
Neoplasm of the skin, Telangiectasia, Myelodysplasia, Neutropenia, Vomiting, Small for gestationa... |
ORPHA:221008 |
Dermatomyositis |
|
Myocarditis, Feeding difficulties in infancy, Gastrointestinal stroma tumor, Pericarditis, Lung a... |
ORPHA:221 |
Microscopic Polyangiitis |
|
Sinusitis, Nausea and vomiting, Gastrointestinal infarctions, Pericarditis, Episcleritis, Periton... |
ORPHA:727 |
Alg1-Cdg |
|
Cardiomyopathy, Chronic diarrhea, Decreased liver function, Abnormality of the gastrointestinal t... |
ORPHA:79327 |
Necrobiosis Lipoidica |
|
Inflammatory abnormality of the skin, Telangiectasia of the skin, Abnormality of neutrophil physi... |
ORPHA:542592 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Dilated cardiomyopathy, Dysphagia, Nausea, Poor appetite, Diarrhea, Arrhythmia |
ORPHA:352447 |
Severe Hemophilia A |
|
Menorrhagia, Intracranial hemorrhage, Epidural hemorrhage, Synovitis, Subdural hemorrhage, Joint ... |
ORPHA:169802 |
Aa Amyloidosis |
|
Vomiting, Nausea, Malabsorption, Chronic diarrhea, Malnutrition, Abdominal pain, Hypotension |
ORPHA:85445 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Astrocytoma, Adenomatous colonic polyposis, Multiple gastric polyps, Papillary thyroid carcinoma,... |
ORPHA:247806 |
Alg8-Cdg |
|
Vomiting, Small for gestational age, Macroglossia, Failure to thrive, Feeding difficulties, Anemi... |
ORPHA:79325 |
Hereditary Hemorrhagic Telangiectasia |
|
Esophageal varix, Visceral angiomatosis, Gastrointestinal hemorrhage, Transient ischemic attack, ... |
ORPHA:774 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Pneumonia, Failure to thrive, Aplasia of the thymus, Panhypogammaglobulinemia, Otitis media, Diar... |
OMIM:602450 |
Mast Cell Sarcoma |
|
Sarcoma, Mastocytosis, Weight loss, Splenomegaly |
ORPHA:66661 |
Hermansky-Pudlak Syndrome |
|
Anorexia, Neutropenia, Weight loss, Basal cell carcinoma, Epistaxis, Malabsorption, Squamous cell... |
ORPHA:79430 |
Familial Mediterranean Fever |
|
Splenomegaly, Vasculitis, Diarrhea, Abdominal pain, Nausea and vomiting, Pericarditis, Acute hepa... |
ORPHA:342 |
Peutz-Jeghers Syndrome |
|
Rectal prolapse, Iron deficiency anemia, Gastrointestinal carcinoma, Neoplasm of the pancreas, Ov... |
OMIM:175200 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Dilated cardiomyopathy, Dysphagia, Failure to thrive, Feeding difficulties, Anemia, Gastrostomy t... |
ORPHA:89842 |
Immunodeficiency 22 |
|
Failure to thrive, Panniculitis, Diarrhea, Decreased proportion of CD4-positive helper T cells |
OMIM:615758 |
Satoyoshi Syndrome |
|
Diarrhea, Malabsorption |
OMIM:600705 |
Klippel-Trénaunay Syndrome |
|
Hemangioma, Gastrointestinal hemorrhage, Microcytic anemia, Prolonged bleeding time, Congestive h... |
ORPHA:90308 |
Hereditary Central Diabetes Insipidus |
|
Weight loss, Diarrhea, Vomiting |
ORPHA:30925 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Esophageal varix, Vomiting, Nausea, Failure to thrive, Polycystic ovaries, Hepatocellular adenoma... |
ORPHA:264580 |
Dominant Beta-Thalassemia |
|
Dilated cardiomyopathy, Failure to thrive in infancy, Hypoparathyroidism, Hypochromic microcytic ... |
ORPHA:231226 |
Microvillus Inclusion Disease |
|
Villous atrophy, Abdominal distention, Abnormality of small intestinal villus morphology, Hypovol... |
ORPHA:2290 |
Familial Mediterranean Fever |
|
Leukocytosis, Pericarditis, Vomiting, Peritonitis, Arthritis, Splenomegaly, Episodic abdominal pa... |
OMIM:249100 |
Lysosomal Acid Lipase Deficiency |
|
Esophageal varix, Abdominal distention, Bone-marrow foam cells, Fatal liver failure in infancy, H... |
ORPHA:275761 |
Galactosemia |
|
Vomiting, Failure to thrive, Feeding difficulties, Premature ovarian insufficiency, Hepatic failu... |
ORPHA:352 |
Hypocomplementemic Urticarial Vasculitis |
|
Nausea and vomiting, Episcleritis, Arthritis, Lymphoma, Splenomegaly, Uveitis, Inflammatory abnor... |
ORPHA:36412 |
Rothmund-Thomson Syndrome Type 2 |
|
Neoplasm of the skin, Cleft palate, Myelodysplasia, High palate, Vomiting, Neutropenia, Leukemia,... |
ORPHA:221016 |
Hepatocellular Carcinoma |
|
Portal hypertension, Thrombocytosis, Anorexia, Esophageal varix, Budd-Chiari syndrome, Polycythem... |
ORPHA:88673 |
Glanzmann Thrombasthenia 1 |
|
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, ... |
OMIM:273800 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Esophageal varix, Vomiting, Hepatocellular carcinoma, Failure to thrive, Polycystic ovaries, Hepa... |
ORPHA:370 |
Maculopapular Cutaneous Mastocytosis |
|
Diarrhea, Abdominal pain, Vomiting, Nausea |
ORPHA:79457 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Failure to thrive, Splenomegaly, Poor appetite, Diarrhea, Decreased testicular size |
OMIM:201100 |
Dyskeratosis Congenita, X-Linked |
|
Myelodysplasia, Hodgkin lymphoma, Leukopenia, Carcinoma, Anemia, Acute myeloid leukemia, Esophage... |
OMIM:305000 |
Galactosemia I |
|
Vomiting, Failure to thrive, Decreased liver function, Premature ovarian insufficiency, Diarrhea,... |
OMIM:230400 |
Stevens-Johnson Syndrome |
|
Nausea and vomiting, Dysphagia, Weight loss, Anemia, Pancreatitis, Myocardial infarction, Gastroi... |
ORPHA:36426 |
Periodic Fever, Familial, Autosomal Dominant |
|
Conjunctivitis, Vomiting, Myositis, Oligoarthritis, Chronic diarrhea, Gastrointestinal hemorrhage... |
OMIM:142680 |
Bone Dysplasia, Lethal Holmgren Type |
|
Hypertrophic cardiomyopathy, Nausea and vomiting, Failure to thrive, Weight loss, Anemia, Diarrhea |
ORPHA:1842 |
Anal Sphincter Dysplasia |
|
Bowel incontinence, Diarrhea, Encopresis, Constipation, Chronic constipation |
OMIM:105563 |
Bacterial Toxic-Shock Syndrome |
|
Myocarditis, Sinusitis, Fasciitis, Hepatitis, Septic arthritis, Diarrhea, Abdominal pain, Capilla... |
ORPHA:36234 |
Lujo Hemorrhagic Fever |
|
Myocarditis, Odynophagia, Excessive bleeding after a venipuncture, Maculopapular exanthema, Diarr... |
ORPHA:319213 |
Nijmegen Breakage Syndrome |
|
Cachexia, Cleft palate, Rhabdomyosarcoma, Acute leukemia, Neoplasm, Lymphoma, Anal atresia, Chron... |
ORPHA:647 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hypertrophic cardiomyopathy, Reduced ejection fraction, Sudden cardiac death, Necrotizing enteroc... |
OMIM:201475 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Chronic active hepatitis, Hypoparathyroidism, Asplenia, Chronic oral candidiasis, Malabsorption, ... |
OMIM:240300 |
Marburg Hemorrhagic Fever |
|
Petechiae, Neutrophilia in presence of infection, Prolonged prothrombin time, Odynophagia, Excess... |
ORPHA:99826 |
Oncogenic Osteomalacia |
|
Carcinoma, Giant cell tumor of bone, Osteosarcoma, Neoplasm of head and neck, Neoplasm of the ske... |
ORPHA:352540 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Duodenal ulcer, Cachexia, Malabsorption, Chronic diarrhea, Steatorrhea |
ORPHA:3217 |
Beta-Thalassemia Major |
|
Dilated cardiomyopathy, Failure to thrive in infancy, Anisopoikilocytosis, Hypoparathyroidism, Hy... |
ORPHA:231214 |
Central Diabetes Insipidus |
|
Nausea and vomiting, Anorexia, Failure to thrive, Weight loss, Diarrhea |
ORPHA:178029 |
Malonyl-Coa Decarboxylase Deficiency |
|
Dilated cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Vomiting, Diarrhea, Abdomi... |
OMIM:248360 |
Chromosome 19P13.13 Deletion Syndrome |
|
Vomiting, Feeding difficulties, Diarrhea, Abdominal pain, Constipation |
OMIM:613638 |
Botulism |
|
Nausea and vomiting, Dysphagia, Xerostomia, Abdominal pain, Diarrhea, Arrhythmia, Constipation |
ORPHA:1267 |
Malakoplakia |
|
Inflammatory abnormality of the skin, Prostate neoplasm, Neoplasm of the rectum, Urinary bladder ... |
ORPHA:556 |
Adiposis Dolorosa |
|
Constipation, Xerostomia, Telangiectasia of the skin, Arthritis, Recurrent skin infections, Obesi... |
ORPHA:36397 |
Erythermalgia, Primary |
|
Keratoconjunctivitis sicca, Xerostomia, Palpitations, Diarrhea, Constipation |
OMIM:133020 |
Sandifer Syndrome |
|
Feeding difficulties, Esophagitis, Anemia, Hiatus hernia, Hematemesis, Gastroesophageal reflux, E... |
ORPHA:71272 |
Rothmund-Thomson Syndrome |
|
Neoplasm of the skin, Myelodysplasia, Neutropenia, Vomiting, Small for gestational age, Leukemia,... |
ORPHA:2909 |
Lissencephaly, X-Linked, 2 |
|
Diarrhea, Feeding difficulties in infancy, High palate, Decreased testicular size |
OMIM:300215 |
Pachydermoperiostosis |
|
Neoplasm of the skin, Eczematoid dermatitis, Neoplasm of the lung, Seborrheic dermatitis, Anemia,... |
ORPHA:2796 |
Methanol Poisoning |
|
Cerebral hemorrhage, Hypertension, Intracranial hemorrhage, Vomiting, Permanent atrial fibrillati... |
ORPHA:31825 |
Xeroderma Pigmentosum Variant |
|
Telangiectasia, Basal cell carcinoma, Keratitis, Squamous cell carcinoma, Melanoma |
ORPHA:90342 |
Hemophilia A |
|
Splenic rupture, Intracranial hemorrhage, Joint hemorrhage, Spontaneous hematomas, Bleeding with ... |
ORPHA:98878 |
Foodborne Botulism |
|
Nausea and vomiting, Dysphagia, Xerostomia, Abdominal pain, Diarrhea, Arrhythmia, Constipation |
ORPHA:228371 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormal T cell morphology, Eczematoid dermatitis, Pyoderma, Bronchiectasis, Failure to thrive, C... |
OMIM:242700 |
Osteootohepatoenteric Syndrome |
|
Villous atrophy, Ileoileal intussusception, Failure to thrive, Abdominal pain, Weight loss, Anemi... |
OMIM:619377 |
Malignant Atrophic Papulosis |
|
Nausea and vomiting, Gastrointestinal infarctions, Peritonitis, Weight loss, Intestinal perforati... |
ORPHA:679 |
Cog4-Cdg |
|
Recurrent infection of the gastrointestinal tract, Failure to thrive in infancy, Feeding difficul... |
ORPHA:263501 |
Mevalonic Aciduria |
|
Fluctuating splenomegaly, Leukocytosis, Failure to thrive in infancy, Increased circulating IgD l... |
OMIM:610377 |
Yellow Fever |
|
Prolonged prothrombin time, Excessive bleeding after a venipuncture, Acute pancreatitis, Pancreat... |
ORPHA:99829 |
Plague |
|
Inflammation of the large intestine, Splenomegaly, Diarrhea, Abdominal pain, Vomiting, Lymphadeni... |
ORPHA:707 |
Spontaneous Periodic Hypothermia |
|
Nausea and vomiting, Diarrhea, Arrhythmia, Skin rash |
ORPHA:29822 |
Lassa Fever |
|
Shock, Nausea and vomiting, Dysphagia, Increased circulating IgM level, Abnormal bleeding, Diarrh... |
ORPHA:99824 |
Legionnaires Disease |
|
Myocarditis, Nausea and vomiting, Anorexia, Pericarditis, Infectious encephalitis, Endocarditis, ... |
ORPHA:549 |
Addison Disease |
|
Nausea and vomiting, Hypoparathyroidism, Anorexia, Normocytic anemia, Celiac disease, Failure to ... |
ORPHA:85138 |
Rat-Bite Fever |
|
Myocarditis, Pericarditis, Pustule, Vomiting, Endocarditis, Lymphadenitis, Oligoarthritis, Weight... |
ORPHA:31205 |
Multiple Endocrine Neoplasia Type 2 |
|
Ganglioneuromatosis, Abdominal distention, Primary hyperparathyroidism, Neoplasm of the skeletal ... |
ORPHA:653 |
Epidermodysplasia Verruciformis, Susceptibility To, 3 |
|
Basal cell carcinoma, Squamous cell carcinoma |
OMIM:618267 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
B lymphocytopenia, Psoriasiform dermatitis, Decreased circulating total IgA, Decreased specific a... |
ORPHA:221139 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Enteroviral hepatitis, Infectious encephalitis, Pyoderma, Absent circulating B cells, ... |
OMIM:307200 |
Mental Retardation, Autosomal Dominant 35 |
|
Pyloric stenosis, Chronic diarrhea |
OMIM:616355 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia,... |
OMIM:619313 |
Pediatric-Onset Graves Disease |
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Hypertension, Nausea and vomiting, Atrial fibrillation, Goiter, Neutropenia in presence of anti-n... |
ORPHA:525731 |
Cutaneous Mastocytoma |
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Vomiting, Nausea, Telangiectasia of the skin, Telangiectasia macularis eruptiva perstans, Maculop... |
ORPHA:79455 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
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Vomiting, Hepatocellular carcinoma, Nausea, Polycystic ovaries, Hepatocellular adenoma, Anemia, S... |
ORPHA:79240 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
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Vomiting, Failure to thrive, Reye syndrome-like episodes, Acute hepatic failure, Osteomyelitis le... |
OMIM:256810 |
Recurrent Respiratory Papillomatosis |
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Syncope, Dysphagia, Failure to thrive, Squamous cell carcinoma, Recurrent pneumonia |
ORPHA:60032 |
Acute Monoblastic/Monocytic Leukemia |
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Leukocytosis, Anorexia, Weight loss, Anemia, Hypochromic anemia, Lymphocytosis, Acute monocytic l... |
ORPHA:514 |
Intestinal Botulism |
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Xerostomia, Nausea and vomiting, Dysphagia, Diarrhea |
ORPHA:178481 |
Maternal Uniparental Disomy Of Chromosome 4 |
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Acanthocytosis, Malnutrition, Abnormal erythrocyte morphology, Decreased body weight, Diarrhea, F... |
ORPHA:96180 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
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Inflammation of the large intestine, Interface hepatitis, Sclerosing cholangitis, Granulomatous c... |
ORPHA:562639 |
Wild Type Attr Amyloidosis |
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Hypertrophic cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Gastrointestin... |
ORPHA:330001 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
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Dilated cardiomyopathy, Failure to thrive in infancy, Pancreatitis, Chronic diarrhea, Microcytic ... |
OMIM:618805 |
Congenital Factor Vii Deficiency |
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Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Post-partum hemorrhage, Prolonged prothr... |
ORPHA:327 |
Combined Malonic And Methylmalonic Acidemia |
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Intermittent diarrhea, Nasogastric tube feeding, Vomiting, Failure to thrive |
ORPHA:289504 |
Middle Ear Neuroendocrine Tumor |
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Chronic diarrhea, Neuroendocrine neoplasm, Carcinoid tumor |
ORPHA:100084 |
Reactive Arthritis |
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Inflammation of the large intestine, Pericarditis, Pustule, Weight loss, Aortic regurgitation, Ar... |
ORPHA:29207 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
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Rectovaginal fistula, Abdominal distention, Intestinal malrotation, Anal atresia, Secretory diarrhea |
OMIM:270420 |
Al Amyloidosis |
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Abnormal salivary gland morphology, Hypertrophic cardiomyopathy, Dysphagia, Abnormal P wave, Macr... |
ORPHA:85443 |
Mixed Connective Tissue Disease |
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Myocarditis, Keratoconjunctivitis sicca, Pericarditis, Leukopenia, Myositis, Xerostomia, Pulmonar... |
ORPHA:809 |
Classic Galactosemia |
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Vomiting, Feeding difficulties, Premature ovarian insufficiency, Hepatic failure, Cryptorchidism,... |
ORPHA:79239 |
Glutaric Aciduria Iii |
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Hypertension, Goiter, Vomiting, Failure to thrive, Diarrhea |
OMIM:231690 |
Familial Adenomatous Polyposis |
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Neoplasm of the gallbladder, Astrocytoma, Neoplasm of the adrenal gland, Cholangiocarcinoma, Aden... |
ORPHA:733 |
Bronchial Neuroendocrine Tumor |
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Right ventricular failure, Facial telangiectasia, Anorexia, Bowel urgency, Pneumonia, Protracted ... |
ORPHA:97287 |
Angioedema, Hereditary, 1 |
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Vomiting, Diarrhea, Abdominal pain, Intestinal edema |
OMIM:106100 |
Mitochondrial Dna Depletion Syndrome 11 |
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Dilated cardiomyopathy, Diarrhea, Arrhythmia, Nausea |
OMIM:615084 |
Malignant Atrophic Papulosis |
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Constrictive pericarditis, Gastrointestinal hemorrhage, Gastrointestinal infarctions |
OMIM:602248 |
Acrodermatitis Enteropathica |
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Anorexia, Pustule, Failure to thrive, Cheilitis, Weight loss, Malabsorption, Furrowed tongue, Chr... |
ORPHA:37 |
Congenital Factor Xi Deficiency |
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Menorrhagia, Joint hemorrhage, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding after d... |
ORPHA:329 |