Mantle Cell Lymphoma |
|
Splenomegaly, Abnormality of the gastrointestinal tract, Weight loss, Lymphadenopathy, Anorexia |
ORPHA:52416 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Leukocytosis, Ulcerative colitis, Bloody diarrhea |
OMIM:619398 |
Immunodeficiency 76 |
|
Recurrent pneumonia, Lymphopenia, Splenomegaly, Chronic diarrhea, Lymphadenopathy, B lymphocytope... |
OMIM:619164 |
Pseudomyxoma Peritonei |
|
Inflammation of the large intestine, Nausea and vomiting, Intestinal obstruction, Constipation, W... |
ORPHA:26790 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hemophagocytosis, Hepatitis, ... |
OMIM:300635 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Poor s... |
ORPHA:2198 |
Alpha-Heavy Chain Disease |
|
Abnormal small intestine morphology, Malabsorption, Splenomegaly, Anemia, Lymphadenopathy, Hepato... |
ORPHA:100025 |
Inflammatory Bowel Disease 29 |
|
Ulcerative colitis, Crohn's disease |
OMIM:618077 |
Immunodeficiency, Common Variable, 11 |
|
Abnormal T cell count, Inflammation of the large intestine, Failure to thrive, Mucoid diarrhea, C... |
OMIM:615767 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct... |
OMIM:266600 |
Autoinflammation With Infantile Enterocolitis |
|
Reduced natural killer cell count, Diffuse alveolar hemorrhage, Secretory diarrhea, Failure to th... |
OMIM:616050 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Colitis, Impaired lymphocyte transformation with phytohemagglutinin, Minimal change glomeruloneph... |
OMIM:617006 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Recurrent sinusitis, Lymphadenopathy, Thrombo... |
OMIM:613101 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Arthritis, Thrombocytosis, Colitis, Sterile ... |
OMIM:604416 |
Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis |
|
Hypocitraturia, Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis |
OMIM:620374 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal... |
OMIM:619079 |
Primary Hyperoxaluria Type 3 |
|
Nephrocalcinosis, Abnormal renal physiology, Hyperoxaluria, Hematuria, Abnormality of urine homeo... |
ORPHA:93600 |
Laryngeal Neuroendocrine Tumor |
|
Oral-pharyngeal dysphagia, Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone exc... |
ORPHA:100083 |
Galactose Epimerase Deficiency |
|
Nausea and vomiting, Splenomegaly, Weight loss, Hepatomegaly, Jaundice, Feeding difficulties |
ORPHA:79238 |
Autoinflammatory-Pancytopenia Syndrome |
|
Cholestatic liver disease, Hepatic fibrosis, Hemophagocytosis, Failure to thrive, Pancytopenia, H... |
OMIM:619858 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Hematochezia, Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis |
OMIM:613148 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium, Abdominal distention |
OMIM:616868 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased proportion of memory B cells, Bronchiectasis, Pancytopenia, Splenomegaly, Crohn's disea... |
OMIM:618394 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Lymphopenia, Skin rash, Thrombocytopenia, Ileal ulcer, Colitis, Hemolytic anemia, Anterior uveitis |
OMIM:616744 |
Hyperoxaluria, Primary, Type Ii |
|
Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Hematuria, Calcium oxalate nephrolithiasis |
OMIM:260000 |
Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
Primary Hyperoxaluria Type 2 |
|
Nephrocalcinosis, Recurrent urinary tract infections, Ureteral obstruction, Hyperoxaluria, Renal ... |
ORPHA:93599 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Colitis, Diarrhea |
OMIM:219095 |
Pfapa Syndrome |
|
Malabsorption, Nausea and vomiting, Splenomegaly, Infectious encephalitis, Weight loss, Lymphaden... |
ORPHA:42642 |
Hyperoxaluria, Primary, Type Iii |
|
Calcium oxalate nephrolithiasis, Hyperoxaluria |
OMIM:613616 |
Secondary Short Bowel Syndrome |
|
Diarrhea, Vomiting, Volvulus, Failure to thrive, Malnutrition, Cholestasis, Villous atrophy, Abno... |
ORPHA:95427 |
Ficolin 3 Deficiency |
|
Necrotizing enterocolitis |
OMIM:613860 |
Immunodeficiency 37 |
|
Colitis, Infectious encephalitis, Decreased proportion of central memory CD4-positive, alpha-beta... |
OMIM:616098 |
Idiopathic Achalasia |
|
Gastroesophageal reflux, Malnutrition, Weight loss, Recurrent aspiration pneumonia, Dysphagia |
ORPHA:930 |
Inflammatory Bowel Disease 3 |
|
Ulcerative colitis |
OMIM:604519 |
Inflammatory Bowel Disease 21 |
|
Ulcerative colitis |
OMIM:612354 |
Nephrolithiasis, Calcium Oxalate, 1 |
|
Calcium oxalate nephrolithiasis, Acute kidney injury, Hyperoxaluria, Ureteropelvic junction obstr... |
OMIM:167030 |
Inflammatory Bowel Disease 11 |
|
Hematochezia, Inflammation of the large intestine, Diarrhea, Weight loss, Abdominal pain |
OMIM:191390 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Pneumonia, Lymphadenitis, Chronic mucocutaneous candidiasis, Failure to thrive, Abnormal lymph no... |
ORPHA:911 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Weight loss, Lymphadenopathy, Anorexia, Hepatomegaly |
ORPHA:86893 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Inflammation of the large intestine, Recurrent pneumonia, Thrombocytosis, Leukocyto... |
OMIM:619281 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... |
OMIM:614700 |
Immunodeficiency 70 |
|
Decreased proportion of CD4-positive helper T cells, Recurrent sinusitis, Colitis, Achalasia, B l... |
OMIM:618969 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Diarrhea, Eczematoid dermatitis, Lymphopenia, Psoriasiform dermatitis, Lympho... |
OMIM:616100 |
Trichohepatoenteric Syndrome 2 |
|
Diarrhea, Small for gestational age, Failure to thrive, Villous atrophy, Cirrhosis, Chronic hepat... |
OMIM:614602 |
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, Abdominal pain, Vomiting, Enterocolitis |
OMIM:260005 |
Immunodeficiency 57 With Autoinflammation |
|
Reduced natural killer cell count, Inflammation of the large intestine, Diarrhea, Failure to thri... |
OMIM:618108 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Atopic dermatitis, Bronchiectasis, Colonic eosinophilia, Eosinophilia, Chronic diarrhe... |
OMIM:617638 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Hematochezia, Ileal atresia, Colonic atresia, Bloody diarrhea, Intestinal malrotation, Lymphopeni... |
OMIM:243150 |
Pleural Mesothelioma |
|
Abnormal cardiovascular system physiology, Weight loss, Lymphadenopathy, Hepatomegaly, Dysphagia |
ORPHA:50251 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Gastrointestinal infarctions, Malabsorption, ... |
ORPHA:131 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Diarrhea, Atopic dermatitis, ... |
ORPHA:436159 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Atopic dermatitis, Failure to thrive, Hepatosplenomegaly, Hepatic cysts, Colonic eosinophilia, Eo... |
OMIM:618999 |
Eosinophilic Gastroenteritis |
|
Allergic rhinitis, Protein-losing enteropathy, Hematochezia, Diarrhea, Vomiting, Atopic dermatiti... |
ORPHA:2070 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Intractable diarrhea, Failure to thrive, Villous atrophy, Arthritis, Crypt hyperplasia, Small for... |
OMIM:613217 |
Visceral Myopathy 2 |
|
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... |
OMIM:619350 |
Papa Syndrome |
|
Crohn's disease, Increased inflammatory response, Myositis, Pustule, Lymphadenopathy, Arthritis, ... |
ORPHA:69126 |
Immunodeficiency 97 With Autoinflammation |
|
Diarrhea, Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosple... |
OMIM:619802 |
Immunodeficiency 27A |
|
Pneumonia, Diarrhea, Anorexia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased inflamma... |
OMIM:209950 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Acute pancreatitis, Recurrent pneumonia, Recurrent tonsillitis, Lymphadenitis, Eczematoid dermati... |
OMIM:618935 |
Wolman Disease |
|
Hepatic failure, Malnutrition, Nausea and vomiting, Splenomegaly, Hepatomegaly, Anemia, Cachexia,... |
ORPHA:75233 |
Isolated Congenital Hypoglossia/Aglossia |
|
Microglossia, Aspiration pneumonia, Gastrostomy tube feeding in infancy, Weight loss, Nasogastric... |
ORPHA:141152 |
Diarrhea 6 |
|
Abdominal pain, Chronic diarrhea, Meteorism, Crohn's disease |
OMIM:614616 |
Desmoplastic Small Round Cell Tumor |
|
Ileus, Nausea and vomiting, Anemia, Cachexia, Weight loss, Lymphadenopathy, Abnormal peritoneum m... |
ORPHA:83469 |
Reticular Dysgenesis |
|
Diarrhea, Aplasia/Hypoplasia of the thymus, Failure to thrive, Leukopenia, Malabsorption, Skin ra... |
ORPHA:33355 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Constipation, Enterocoliti... |
OMIM:142623 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis, Obesity |
ORPHA:88643 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal mesentery morphology, Abnormality of the spleen, Cachexia, Tracheoesophageal fistula, In... |
ORPHA:93941 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Gastroesophageal reflux, Diarrhea, Vomiting, Malnutrition, Stomach c... |
ORPHA:2494 |
Intestinal Dysmotility Syndrome |
|
Diarrhea, Decreased intestinal transit time, Failure to thrive, Projectile vomiting, Weight loss,... |
OMIM:620045 |
Mhc Class Ii Deficiency 1 |
|
Chronic mucocutaneous candidiasis, Failure to thrive, Protracted diarrhea, Villous atrophy, Malab... |
OMIM:209920 |
Graft Versus Host Disease |
|
Diarrhea, Inflammatory abnormality of the skin, Hemophagocytosis, Hepatosplenomegaly, Inflammator... |
ORPHA:39812 |
Refractory Celiac Disease |
|
Normocytic anemia, Protein-losing enteropathy, Inflammatory abnormality of the skin, Jejunitis, M... |
ORPHA:398063 |
Pulmonary Blastoma |
|
Recurrent pneumonia, Weight loss |
ORPHA:64741 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Decreased mean platelet volume, Hematochezia, Inflammation of the large intestine, Blepharitis, R... |
OMIM:617718 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Protein-losing enteropathy, Diarrhea, Vomiting, Abdominal colic, Failure to thrive, Villous atrophy |
OMIM:615863 |
Shigellosis |
|
Microangiopathic hemolytic anemia, Cholestasis, Anorexia, Abdominal pain, Intestinal perforation,... |
ORPHA:810 |
Cyclic Neutropenia |
|
Recurrent tonsillitis, Periodontitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, ... |
ORPHA:2686 |
Neuroendocrine Tumor Of The Colon |
|
Melena, Lack of bowel sounds, Right ventricular failure, Hypotension, Protracted diarrhea, Hypoac... |
ORPHA:100080 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Protein-losing enteropathy, Recurrent pneumonia, Recurrent otitis media, Chronic sinusitis, Neutr... |
OMIM:613502 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Intestinal pseudo-obstruction, Malnutrition, Slender build, Malabsorption, Gastrointestinal dysmo... |
OMIM:613662 |
Amoebiasis Due To Entamoeba Histolytica |
|
Diarrhea, Protracted diarrhea, Bloody diarrhea, Congestive heart failure, Leukocytosis, Intestina... |
ORPHA:67 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Bone marrow hypocellularity, Colitis, Leukopenia, Esophageal stenosis |
OMIM:615190 |
Epidermolysis Bullosa Acquisita |
|
Abdominal pain, Inflammation of the large intestine |
ORPHA:46487 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Vomiting, Abnormal small intestinal mucosa morphology, Malabsorption, Nausea, Abdominal distentio... |
ORPHA:103907 |
Neuroendocrine Tumor Of The Rectum |
|
Hematochezia, Hypotension, Lack of bowel sounds, Right ventricular failure, Tenesmus, Protracted ... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Hematochezia, Hypotension, Lack of bowel sounds, Right ventricular failure, Tenesmus, Protracted ... |
ORPHA:100082 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Folliculitis, Pancolitis, Perianal abscess, Enterocutaneous fistula, Enterocolitis, Rectovaginal ... |
OMIM:612567 |
Congenital Short Bowel Syndrome |
|
Congenital shortened small intestine, Decreased intestinal transit time, Vomiting, Failure to thr... |
OMIM:615237 |
Undifferentiated Pleomorphic Sarcoma |
|
Weight loss, Abnormal peritoneum morphology, Anorexia |
ORPHA:2023 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Abnormal intestine morphology, Cru... |
ORPHA:37042 |
Congenital Tufting Enteropathy |
|
Cholestatic liver disease, Vomiting, Secretory diarrhea, Failure to thrive, Abnormal large intest... |
ORPHA:92050 |
Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Inflammation of the large intestine, Spider hemangioma, Viral hepati... |
ORPHA:2137 |
Aggressive Systemic Mastocytosis |
|
Diarrhea, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Weight loss, Neutropenia, Anorexia, Le... |
ORPHA:98850 |
Hirschsprung Disease |
|
Diarrhea, Failure to thrive in infancy, Functional abnormality of the gastrointestinal tract, Int... |
ORPHA:388 |
Kaposi Sarcoma |
|
Diarrhea, Abnormality of the spleen, Abnormality of the liver, Skin rash, Abnormality of the gast... |
ORPHA:33276 |
Esophagitis, Eosinophilic, 1 |
|
Vomiting, Failure to thrive, Esophagitis, Eosinophilia, Dysphagia |
OMIM:610247 |
Esophagitis, Eosinophilic, 2 |
|
Vomiting, Failure to thrive, Esophagitis, Eosinophilia, Dysphagia |
OMIM:613412 |
Primary Hyperoxaluria Type 1 |
|
Nephrocalcinosis, Enuresis, Recurrent urinary tract infections, Decreased glomerular filtration r... |
ORPHA:93598 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Decreased proportion of memory B cells, Inflammation of the large intestine, Reduced natural kill... |
OMIM:301074 |
Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy |
ORPHA:66661 |
Rhabdoid Tumor |
|
Nausea and vomiting, Neoplasm of the liver, Weight loss, Lymphadenopathy, Thrombocytopenia, Inter... |
ORPHA:69077 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Intrahepatic cholestasis, Diarrhea, Failure to thrive, Splenomegaly, Intermittent jaundice, Cirrh... |
OMIM:601847 |
Immunodeficiency 40 |
|
Focal active colitis, Recurrent pneumonia, Recurrent otitis media, Intermittent diarrhea, Interst... |
OMIM:616433 |
Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Ileitis |
OMIM:618287 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Vasculitis, Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin ras... |
ORPHA:324964 |
Classic Hodgkin Lymphoma |
|
Bone marrow hypocellularity, Splenomegaly, Skin rash, Weight loss, Lymphadenopathy, Anorexia, Hep... |
ORPHA:391 |
Mu-Heavy Chain Disease |
|
Abnormal B cell count, Splenomegaly, Anemia, Weight loss, Lymphadenopathy, Hepatomegaly |
ORPHA:100024 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Inflammation of the large intestine, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Fa... |
ORPHA:98813 |
Benign Recurrent Intrahepatic Cholestasis |
|
Cholestatic liver disease, Cholelithiasis, Anorexia, Nausea and vomiting, Abdominal pain, Cirrhos... |
ORPHA:65682 |
Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Abnormal lymph node morphology, Abnormality of the ovary, Abnormalit... |
ORPHA:543 |
Hyperlipoproteinemia, Type Id |
|
Failure to thrive, Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly, Colitis |
OMIM:615947 |
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1 |
|
Bone marrow hypocellularity, Enterocolitis, Failure to thrive, Decreased pineal volume |
OMIM:301108 |
Inflammatory Pseudotumor Of The Liver |
|
Vomiting, Biliary tract abnormality, Nausea, Neoplasm of the liver, Cirrhosis, Weight loss, Abdom... |
ORPHA:90003 |
Follicular Lymphoma |
|
Splenomegaly, Weight loss, Lymphadenopathy, Abnormal peritoneum morphology, Mediastinal lymphaden... |
ORPHA:545 |
Immunodeficiency 82 With Systemic Inflammation |
|
Diarrhea, Anoperineal fistula, Pustular rash, Recurrent otitis media, Follicular hyperplasia, Wei... |
OMIM:619381 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Protein-losing enteropathy, Hepatic fibrosis, Diarrhea, Hepatic failure, Vomiting, Failure to thr... |
OMIM:602579 |
Cronkhite-Canada Syndrome |
|
Gastrointestinal carcinoma, Diarrhea, Furrowed tongue, Stomach cancer, Intestinal polyposis, Sple... |
ORPHA:2930 |
Aids Wasting Syndrome |
|
Malnutrition, Malabsorption, Cachexia, Weight loss, Anorexia |
ORPHA:90081 |
Primary Fanconi Renotubular Syndrome |
|
Renal phosphate wasting, Chronic kidney disease, Hypouricemia, Decreased circulating carnitine co... |
ORPHA:3337 |
Linear Iga Dermatosis |
|
Epistaxis, Inflammation of the large intestine |
ORPHA:46488 |
Familial Pancreatic Carcinoma |
|
Peritoneal abscess, Intestinal pseudo-obstruction, Pancreatic adenocarcinoma, Exocrine pancreatic... |
ORPHA:1333 |
Mpi-Cdg |
|
Hepatic fibrosis, Protein-losing enteropathy, Gastrointestinal hemorrhage, Vomiting, Diarrhea, De... |
ORPHA:79319 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hematochezia, Inflammation of the large intestine, Hepatic fibrosis, Lymphadenitis, Eczematoid de... |
OMIM:615895 |
Nephroblastoma |
|
Neoplasm of the liver, Weight loss, Lymphadenopathy, Abdominal pain, Hypertension |
ORPHA:654 |
Multicentric Reticulohistiocytosis |
|
Cachexia, Histiocytosis, Arthritis |
ORPHA:139436 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Epistaxis, Cholelithiasis, Diarrhea, Failure to thrive, Splenomegaly, Cirrhosis, Intrahepatic cho... |
OMIM:211600 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Allergic rhinitis, Atopic dermatitis, Gastroesophageal reflux, Vomiting, Failure to thrive, Eosin... |
ORPHA:411696 |
Radiation Proctitis |
|
Hematochezia, Diarrhea, Arteritis, Tenesmus, Abnormal rectum morphology, Intestinal obstruction, ... |
ORPHA:70475 |
X-Linked Agammaglobulinemia |
|
Recurrent pneumonia, Hepatitis, Conjunctivitis, Failure to thrive, Osteomyelitis, Malabsorption, ... |
ORPHA:47 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Intrahepatic cholestasis, Giant cell hepatitis, Hepatic failure, Diarrhea, Failure to thrive, Spl... |
OMIM:607765 |
Acquired Hypertrichosis Lanuginosa |
|
Weight loss, Lymphadenopathy, Macroglossia, Glossitis, Chronic diarrhea, Ovarian neoplasm, Poor a... |
ORPHA:2221 |
Malignant Peritoneal Mesothelioma |
|
Ileus, Peritonitis, Weight loss, Abdominal distention, Abdominal pain |
ORPHA:168811 |
Neuroendocrine Tumor Of Stomach |
|
Protracted diarrhea, Nausea and vomiting, Weight loss, Anorexia, Hepatomegaly, Right ventricular ... |
ORPHA:100075 |
Ileal Neuroendocrine Tumor |
|
Arrhythmia, Weight loss, Abnormal bowel sounds, Functional intestinal obstruction, Right ventricu... |
ORPHA:100078 |
Diarrhea 9 |
|
Diarrhea, Villous atrophy, Failure to thrive |
OMIM:618168 |
Bile Acid Malabsorption, Primary, 1 |
|
Failure to thrive, Increased fecal bile acid, Steatorrhea, Chronic diarrhea, Fat malabsorption |
OMIM:613291 |
Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
Junctional Epidermolysis Bullosa Inversa |
|
Gastrointestinal inflammation |
ORPHA:79405 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Congenital shortened small intestine, Vomiting, Intestinal pseudo-obstruction, Intestinal malrota... |
OMIM:300048 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Gastroesophageal reflux, Diarrhea, Vomiting, Nausea, Gastrointestinal dysmotility, Abnormality of... |
ORPHA:298 |
Medullary Thyroid Carcinoma |
|
Diarrhea, Pheochromocytoma, Abnormal liver parenchyma morphology, Weight loss, Lymphadenopathy, N... |
ORPHA:1332 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Nausea and vomiting, Wei... |
ORPHA:3226 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Cholestatic liver disease, Hemophagocytosis, Decreased liver function, Splenomegaly, Skin rash, I... |
ORPHA:540 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Hypertrophic cardiomyopathy, Tricuspid regurgitation, Wolff-Parkinson-White syndrome, Crohn's dis... |
OMIM:619705 |
Takayasu Arteritis |
|
Vasculitis, Hypertensive crisis, Hypertrophic cardiomyopathy, Gastrointestinal infarctions, Cereb... |
ORPHA:3287 |
Sepsis In Premature Infants |
|
Hypotension, Diarrhea, Abdominal distention, Vomiting, Decreased liver function, Functional abnor... |
ORPHA:90051 |
Immunodeficiency 31C |
|
Protein-losing enteropathy, Diarrhea, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, L... |
OMIM:614162 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Bone marrow hypocellularity, Inflammation of the large intestine, Reduced natural killer cell cou... |
OMIM:620133 |
Cap Polyposis |
|
Atrophic gastritis, Hematochezia, Diarrhea, Constipation, Weight loss, Abdominal distention, Abdo... |
ORPHA:160148 |
Anaplastic Thyroid Carcinoma |
|
Goiter, Tracheoesophageal fistula, Weight loss, Lymphadenopathy, Nodular goiter, Dysphagia |
ORPHA:142 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Diarrhea, Abnormal lymph node morphology, Abnormality of the lymphatic system, Weight loss, Abnor... |
ORPHA:54251 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Protein-losing enteropathy, Hematochezia, Gastrointestinal carcinoma, Xerostomia, Diarrhea, Vomit... |
OMIM:175500 |
Primary Hyperoxaluria |
|
Chronic kidney disease, Aciduria, Nephrocalcinosis, Elevated urine glycolate, Arterial occlusion,... |
ORPHA:416 |
Leishmaniasis |
|
Leukopenia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Weight loss, Lymp... |
ORPHA:507 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Diarrhea, Abnormal lymph node morphology, Hepatosplenomegaly, Intestinal obstruction, Weight loss... |
ORPHA:85450 |
Majeed Syndrome |
|
Inflammatory abnormality of the skin, Failure to thrive, Osteomyelitis, Malabsorption, Leukocytos... |
ORPHA:77297 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Interstitial pneumonitis, Enterocolitis, Decreased proportion of class-switched memory B cells, U... |
OMIM:614878 |
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2 |
|
Enterocolitis |
OMIM:620425 |
Small Bowel Atresia |
|
Vomiting, Failure to thrive, Intestinal malrotation, Jejunal atresia, Intestinal hypoplasia, Abdo... |
ORPHA:1201 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Anemia, Gastrointestinal inflammation, Esophageal stricture |
ORPHA:79409 |
Idiopathic Hypereosinophilic Syndrome |
|
Inflammatory abnormality of the skin, Hepatosplenomegaly, Thrombocytosis, Feeding difficulties in... |
ORPHA:3260 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Abnormal intestine morphology, Villous atrophy, Malnutrition, Protracted diarrhea |
OMIM:251850 |
Zygomycosis |
|
Diarrhea, Ileitis, Pustule, Acute infectious pneumonia, Neutropenia, Abdominal pain, Endocarditis... |
ORPHA:73263 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Hepatitis, Eczematoid dermatitis, Failure to thrive, Decreased FOXP3-expressing T cell count, Vil... |
OMIM:304790 |
Klatskin Tumor |
|
Abdominal pain, Weight loss, Cholangiocarcinoma, Lymphadenopathy, Hepatomegaly, Jaundice, Extrahe... |
ORPHA:99978 |
Nodular Non-Suppurative Panniculitis |
|
Nausea and vomiting, Splenomegaly, Inflammatory abnormality of the eye, Weight loss, Hepatomegaly... |
ORPHA:33577 |
Bronchial Neuroendocrine Tumor |
|
Pneumonia, Hepatic failure, Hypotension, Right ventricular failure, Cardiogenic shock, Protracted... |
ORPHA:97287 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... |
OMIM:619375 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Diarrhea, Restrictive cardiomyopathy, Hypoplasia of the thymus... |
OMIM:619313 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Diarrhea, Vomiting, Microangiopathic hemolytic anemia, Bloody diarrhea, Leukocytosis, Reticulocyt... |
ORPHA:90038 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Inflammation of the large intestine, Failure to thrive, Cholestasis, Pancytopenia, Splenomegaly, ... |
OMIM:614576 |
Felty Syndrome |
|
Bone marrow hypocellularity, Recurrent pneumonia, Abnormal lymphocyte morphology, Episcleritis, S... |
ORPHA:47612 |
Alg6-Cdg |
|
Protein-losing enteropathy, Failure to thrive, Abnormality of the liver, Jaundice, Macroglossia, ... |
ORPHA:79320 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Protein-losing enteropathy, Hematochezia, Diarrhea, Weight loss, Abdominal distention |
ORPHA:103910 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Dysphagia, Hypoplastic spleen, Feeding difficulties |
ORPHA:89844 |
Diarrhea 12, With Microvillus Atrophy |
|
Dependency on parenteral nutrition, Vomiting, Secretory diarrhea, Villous atrophy, Microvillar PA... |
OMIM:619445 |
Castleman Disease |
|
Restrictive cardiomyopathy, Nausea and vomiting, Follicular hyperplasia, Intestinal obstruction, ... |
ORPHA:160 |
Caroli Disease |
|
Cholestasis, Cirrhosis, Weight loss, Anorexia, Hepatomegaly, Abdominal pain, Jaundice, Esophageal... |
ORPHA:53035 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Atopic dermatitis, Cholelithiasis, Recurrent tonsillitis, Vomiting, Hypovolemic shock, Failure to... |
ORPHA:171876 |
Selective Igm Deficiency |
|
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-positive T ce... |
ORPHA:331235 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Vomiting, Abdominal pain, High palate, Necrotizing enterocolitis, Feeding difficulties |
OMIM:616809 |
Mirage Syndrome |
|
Gastroesophageal reflux, Aspiration pneumonia, Lymphopenia, Leukopenia, Decreased testicular size... |
OMIM:617053 |
Familial Mediterranean Fever |
|
Diarrhea, Vomiting, Erysipelas, Leukocytosis, Splenomegaly, Chronic constipation, Crohn's disease... |
OMIM:249100 |
Wilson Disease |
|
Hepatitis, Failure to thrive, Acute hepatic failure, Acute hepatitis, Hepatic steatosis, Splenome... |
ORPHA:905 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Periportal fibrosis, Gastroesophageal reflux, Hepatocellular necrosis, Hypertrophic cardiomyopath... |
OMIM:201475 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia |
ORPHA:517 |
Syndromic Diarrhea |
|
Aortic regurgitation, Hepatic fibrosis, Intractable diarrhea, Small for gestational age, Lymphope... |
ORPHA:84064 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Diarrhea, Inflammatory abnormality of the skin, Lymphopenia, Hepatosplenomegaly, Abnormal intesti... |
ORPHA:391487 |
Primary Sclerosing Cholangitis |
|
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... |
ORPHA:171 |
Hyperoxaluria, Primary, Type I |
|
Atrioventricular block, Nephrocalcinosis, Arterial occlusion, Hyperoxaluria, Renal insufficiency,... |
OMIM:259900 |
Pyoderma Gangrenosum |
|
Inflammation of the large intestine, Rheumatoid arthritis, Myositis, Pustule, Myeloid leukemia |
ORPHA:48104 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Diarrhea, Chronic lymphatic leukemia, Acute myeloid leukemia, Weight loss, Neutrophilia, Hepatome... |
ORPHA:98849 |
Primary Biliary Cholangitis |
|
Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Portal hypertension, Splenomegal... |
ORPHA:186 |
Polycythemia Vera |
|
Early satiety, Epistaxis, Gastrointestinal hemorrhage, Acute leukemia, Pulmonary embolism, Polycy... |
ORPHA:729 |
Peritoneal Cystic Mesothelioma |
|
Peritonitis, Constipation, Weight loss, Abdominal distention, Abdominal pain |
ORPHA:168816 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Arteritis, Intestinal fistula, Gastrointestinal infarctions, Ischemi... |
ORPHA:679 |
Immunodeficiency 58 |
|
Allergic rhinitis, Recurrent pneumonia, Bronchiectasis, Eczematoid dermatitis, Cutaneous abscess,... |
OMIM:618131 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Hepatitis, Acute hepatic failure, Interstitial pneumonitis, Skin rash, Infectious encephalitis, P... |
ORPHA:139402 |
Polymyositis |
|
Vasculitis, Gastrointestinal hemorrhage, Gastroesophageal reflux, Abnormal atrioventricular condu... |
ORPHA:732 |
Vascular Hyalinosis |
|
Protein-losing enteropathy, Hematochezia, Diarrhea, Malabsorption, Subarachnoid hemorrhage |
OMIM:277175 |
Primary Intestinal Lymphangiectasia |
|
Increased stool alpha1-antitrypsin concentration, Peritoneal effusion, Intestinal lymphangiectasi... |
ORPHA:90362 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Protein-losing enteropathy, Diarrhea, Vomiting, Failure to thrive, Decreased liver function, Chol... |
OMIM:608104 |
Osteootohepatoenteric Syndrome |
|
Hepatic fibrosis, Portal fibrosis, Secretory diarrhea, Failure to thrive, Cholestasis, Increased ... |
OMIM:619377 |
Wild Type Attr Amyloidosis |
|
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Inter... |
ORPHA:330001 |
Proximal Renal Tubular Acidosis |
|
Aminoaciduria, Nephrocalcinosis, Glycosuria, Hypernatriuria, Low-molecular-weight proteinuria, Bi... |
ORPHA:47159 |
Chronic Beryllium Disease |
|
Lymphocytic interstitial pneumonia, Weight loss, Mediastinal lymphadenopathy, Abnormal proportion... |
ORPHA:133 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased proportion of memory B cells, Reduced natural killer cell count, Vomiting, Eczematoid d... |
OMIM:619510 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Bronchiectasis, Diarrhea, Weight loss, Lymphadenopathy |
ORPHA:411703 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Pulmonary arterial hypertension, Weight loss, Bronchiectasis |
ORPHA:1164 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Diarrhea, Abdominal distention, Right ventricular failure, Anorexia, Palpitations, Chronic noninf... |
ORPHA:100085 |
Chylomicron Retention Disease |
|
Vomiting, Diarrhea, Failure to thrive, Malnutrition, Accumulation of lipid droplets in small-bowe... |
OMIM:246700 |
Pancreatoblastoma |
|
Vomiting, Diarrhea, Abnormal lymph node morphology, Pancreatic calcification, Abdominal pain, Wei... |
ORPHA:677 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Nausea and vomiting, Intestinal obstruction, Weight loss, Tubulointerstitial nephritis, Abdominal... |
ORPHA:183 |
Primary Myelofibrosis |
|
Extramedullary hematopoiesis, Anorexia, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Portal hy... |
ORPHA:824 |
Oculoskeletodental Syndrome |
|
Protein-losing enteropathy, Splenomegaly, Cryptorchidism, Lacunar stroke, Hepatomegaly, Macroglos... |
OMIM:618440 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Tachycardia, Fat malabsorption, Jejunoileal ulceration, Small bowel diverticula |
OMIM:221400 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Vomiting, Diarrhea, Failure to thrive, Cachexia, Weight loss, Feeding difficulties |
OMIM:612075 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Diarrhea, Exocrine pancreatic insufficiency, Abdominal pain, Iron deficiency anemia, Keratoconjun... |
ORPHA:309031 |
Grfoma |
|
Diarrhea, Increased circulating prolactin concentration, Nausea and vomiting, Intestinal obstruct... |
ORPHA:97261 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Hepatosplenomegaly, Panniculitis, Weight loss, Hemophagocytosis |
ORPHA:86884 |
Imerslund-Gräsbeck Syndrome |
|
Anisopoikilocytosis, Vomiting, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancyto... |
ORPHA:35858 |
Attrv30M Amyloidosis |
|
Atrioventricular block, Diarrhea, Cardiomyopathy, Arrhythmia, Constipation, Weight loss |
ORPHA:85447 |
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections |
|
Atopic dermatitis, Gastroesophageal reflux, Eosinophilic infiltration of the esophagus, Eosinophi... |
OMIM:620532 |
Mitchell-Riley Syndrome |
|
Diarrhea, Meckel diverticulum, Annular pancreas, Anteriorly placed anus, Pancreatic hypoplasia, I... |
OMIM:615710 |
Adult-Onset Still Disease |
|
Bone marrow hypocellularity, Hepatitis, Leukocytosis, Splenomegaly, Skin rash, Interstitial pneum... |
ORPHA:829 |
Plague |
|
Inflammation of the large intestine, Diarrhea, Lymphadenitis, Ileitis, Arrhythmia, Acute infectio... |
ORPHA:707 |
Autoimmune Lymphoproliferative Syndrome |
|
Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport... |
ORPHA:3261 |
Ppoma |
|
Diarrhea, Increased circulating prolactin concentration, Nausea and vomiting, Intestinal obstruct... |
ORPHA:97278 |
Thymoma |
|
Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Ulcerative colitis, Myosi... |
ORPHA:99867 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Blepharitis, Failure to thrive, Bloody diarrhea, Villous atrophy, Pustule, Erythroderma, Duodenitis |
OMIM:614328 |
Autoinflammatory Disease, Systemic, With Vasculitis |
|
Diarrhea, Cholestasis, Hepatosplenomegaly, Hepatomegaly, Jaundice, Abdominal pain, Epididymitis, ... |
OMIM:620376 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Diarrhea, Uveitis, Hypotension, Malabsorption, Splenomegaly, Infecti... |
ORPHA:3452 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Perioral eczema, Diarrhea, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent sinusiti... |
OMIM:613960 |
Microsporidiosis |
|
Lymphadenitis, Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Ke... |
ORPHA:2552 |
Lysosomal Acid Lipase Deficiency |
|
Diarrhea, Hepatosplenomegaly, Hypersplenism, Nausea and vomiting, Fatal liver failure in infancy,... |
ORPHA:275761 |
Visceral Myopathy 1 |
|
Microcolon, Vomiting, Diarrhea, Intestinal pseudo-obstruction, Malnutrition, Gastroparesis, Megad... |
OMIM:155310 |
Pancreatic Colipase Deficiency |
|
Cholelithiasis, Exocrine pancreatic insufficiency, Megaloblastic anemia, Steatorrhea, Chronic dia... |
ORPHA:309108 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Protein-losing enteropathy |
OMIM:619063 |
Zollinger-Ellison Syndrome |
|
Diarrhea, Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Esophagitis, Intestinal ... |
ORPHA:913 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Duodenal atresia, Polysplenia, Intestinal malrotation, Chronic sinusitis, Chronic otitis media |
OMIM:619608 |
Chronic Hiccup |
|
Weight loss, Malnutrition |
ORPHA:396 |
Gastroesophageal Reflux |
|
Barrett esophagus, Gastroesophageal reflux, Esophagitis, Esophageal neoplasm |
OMIM:109350 |
Gallbladder Neuroendocrine Tumor |
|
Biliary tract neoplasm, Anorexia, Chronic noninfectious lymphadenopathy, Cholecystitis, Intermitt... |
ORPHA:100086 |
Loeffler Endocarditis |
|
Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Congestive heart failure... |
ORPHA:75566 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Hepatic failure, Cholestasis, Hepatosplenomegaly, Cirrhosis, Jaundice, Fat malabsorption, Bile du... |
ORPHA:79302 |
Rat-Bite Fever |
|
Diarrhea, Lymphadenitis, Vomiting, Septic arthritis, Parotitis, Morbilliform rash, Skin rash, Pus... |
ORPHA:31205 |
Sandifer Syndrome |
|
Gastroesophageal reflux, Esophagitis, Hiatus hernia, Hematemesis, Episodic vomiting, Anemia, Feed... |
ORPHA:71272 |
Wiskott-Aldrich Syndrome |
|
Inflammation of the large intestine, Abnormal eosinophil morphology, Acute leukemia, Microcytic a... |
ORPHA:906 |
Immunodeficiency 87 And Autoimmunity |
|
Cholestasis, Lymphopenia, Decreased CD4:CD8 ratio, Hepatic steatosis, Hepatomegaly, Jaundice, Atr... |
OMIM:619573 |
Sweet Syndrome |
|
Inflammation of the large intestine, Dilated cardiomyopathy, Acne inversa, Predominantly dermal n... |
ORPHA:3243 |
Oculogastrointestinal Muscular Dystrophy |
|
Intestinal pseudo-obstruction, Gastroparesis, Malabsorption, Abnormal gastric mucosa morphology, ... |
ORPHA:1876 |
Gracile Bone Dysplasia |
|
Ankyloglossia, Asplenia, Hypoplastic spleen, Failure to thrive |
OMIM:602361 |
Mulibrey Nanism |
|
Hepatomegaly, Cachexia |
ORPHA:2576 |
Systemic Capillary Leak Syndrome |
|
Hypotension, Diarrhea, Leukocytosis, Arrhythmia, Weight loss, Pancreatitis, Myocarditis, Abdomina... |
ORPHA:188 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Eczematoid dermatitis, Failure to thrive in... |
OMIM:606367 |
Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Fasciitis, Myositis, Eosinophilia, Weight loss, Arthritis |
ORPHA:3165 |
Oculopharyngodistal Myopathy |
|
High, narrow palate, Oral-pharyngeal dysphagia, Weight loss, High palate, Recurrent aspiration pn... |
ORPHA:98897 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Hypochromic anemia, Anoperineal fistula, Failure to thrive, Leukocytosis, Pancolitis, Eosinophili... |
OMIM:618213 |
Brucellosis |
|
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Weight loss, Glomerulonephri... |
ORPHA:1304 |
Postinfectious Vasculitis |
|
Pneumonia, Bacterial endocarditis, Inflammatory abnormality of the skin, Cerebral vasculitis, Car... |
ORPHA:48435 |
Somatostatinoma |
|
Diarrhea, Increased circulating prolactin concentration, Nausea and vomiting, Intestinal obstruct... |
ORPHA:97283 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cardiomyopathy, Congestive heart failure, Portal hypertension, Splenomegaly, Chronic hepatic fail... |
ORPHA:465508 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Early satiety, Colonic diverticula, Diarrhea, Vomiting, Intestinal pseudo-obstruction, Malnutriti... |
OMIM:603041 |
Annular Pancreas |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
Pancreas, Annular |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
Diarrhea 11, Malabsorptive, Congenital |
|
Diarrhea, Villous atrophy |
OMIM:618662 |
Acute Monoblastic/Monocytic Leukemia |
|
Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, Lymphocytos... |
ORPHA:514 |
Glycogen Storage Disease Ib |
|
Inflammation of the large intestine, Gout, Splenomegaly, Pancreatitis, Neutropenia, Pancreatic fi... |
OMIM:232220 |
Dextrocardia |
|
Meckel diverticulum, Abnormality of abdominal situs, Pancreatic hypoplasia, Abnormal EKG, Intesti... |
ORPHA:1666 |
Alg1-Cdg |
|
Protein-losing enteropathy, Cardiomyopathy, Decreased liver function, Abnormality of the gastroin... |
ORPHA:79327 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Hypotension, Diarrhea, Pituitary adenoma, Hepatitis, Failure to thrive, Nausea... |
ORPHA:199299 |
Matthew-Wood Syndrome |
|
Annular pancreas, Failure to thrive, Duodenal stenosis, Cryptorchidism, Abnormal spleen morpholog... |
ORPHA:2470 |
Glucagonoma |
|
Diarrhea, Increased circulating prolactin concentration, Acanthocytosis, Nausea and vomiting, Int... |
ORPHA:97280 |
Acute Promyelocytic Leukemia |
|
Epistaxis, Diffuse alveolar hemorrhage, Anorexia, Leukopenia, Pancytopenia, Leukocytosis, Weight ... |
ORPHA:520 |
Thymic Carcinoma |
|
Neoplasm of the thymus, Weight loss, Mediastinal lymphadenopathy |
ORPHA:99868 |
Congenital Factor Xiii Deficiency |
|
Epistaxis, Inflammation of the large intestine, Hepatic failure, Myeloid leukemia, Cerebral hemor... |
ORPHA:331 |
Insulin Autoimmune Syndrome |
|
Weight loss, Arthralgia/arthritis |
ORPHA:411593 |
Colonic Atresia |
|
Peptic ulcer, Abdominal situs inversus, Colonic atresia, Abnormal mesentery morphology, Duodenal ... |
ORPHA:1198 |
Juvenile Polyposis Of Infancy |
|
High, narrow palate, Protein-losing enteropathy, Intestinal bleeding, Gastrointestinal hemorrhage... |
ORPHA:79076 |
Netherton Syndrome |
|
Allergic rhinitis, Eczematoid dermatitis, Failure to thrive, Hypereosinophilia, Recurrent infecti... |
OMIM:256500 |
Chylomicron Retention Disease |
|
Vomiting, Diarrhea, Failure to thrive, Acanthocytosis, Hepatic steatosis, Abdominal distention, S... |
ORPHA:71 |
Polyarteritis Nodosa |
|
Cardiomyopathy, Abnormality of the gastrointestinal tract, Weight loss, Raynaud phenomenon, Abdom... |
ORPHA:767 |
Immunodeficiency 92 |
|
Pneumonia, Osteomyelitis, Esophagitis, Leukocytosis, Sclerosing cholangitis, Lymphocytosis, Decre... |
OMIM:619652 |
Ciliary Dyskinesia, Primary, 53 |
|
Recurrent pneumonia, Abdominal situs inversus, Polysplenia, Chronic sinusitis, Pulmonary arterial... |
OMIM:620642 |
Alopecia Totalis |
|
Inflammation of the large intestine |
ORPHA:700 |
Systemic Sclerosis |
|
Intestinal bleeding, Telangiectasia, Glomerulonephritis, Recurrent skin infections, Dysphagia, Bo... |
ORPHA:90291 |
Q Fever |
|
Pneumonia, Vasculitis, Hepatitis, Osteomyelitis, Hepatosplenomegaly, Abnormality of the liver, Ch... |
ORPHA:781 |
Bone Dysplasia, Lethal Holmgren Type |
|
Diarrhea, Failure to thrive, Hypertrophic cardiomyopathy, Nausea and vomiting, Anemia, Weight los... |
ORPHA:1842 |
Congenital Alveolar Capillary Dysplasia |
|
Aortic valve stenosis, Annular pancreas, Volvulus, Duodenal stenosis, Intestinal malrotation, Abs... |
ORPHA:210122 |
Sapho Syndrome |
|
Vasculitis, Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Malabsor... |
ORPHA:793 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Aortic regurgitation, Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthrit... |
OMIM:106300 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Recurrent pneumonia, Failure to thrive in infancy, Colitis, Chronic diarrhea, Bronchiectasis |
OMIM:301220 |
Fructose Intolerance, Hereditary |
|
Gastrointestinal hemorrhage, Proximal tubulopathy, Transient aminoaciduria, Glycosuria, Hyperbili... |
OMIM:229600 |
Isolated Biliary Atresia |
|
Periportal fibrosis, Small for gestational age, Failure to thrive, Decreased liver function, Chol... |
ORPHA:30391 |
Cystic Echinococcosis |
|
Cholestatic liver disease, Peritoneal abscess, Abnormality of the testis size, Hepatic cysts, Spl... |
ORPHA:400 |
Yao Syndrome |
|
Uveitis, Inflammatory abnormality of the skin, Diarrhea, Xerostomia, Skin rash, Keratoconjunctivi... |
OMIM:617321 |
Thymic Neuroendocrine Tumor |
|
Pituitary adenoma, Increased circulating prolactin concentration, Pituitary prolactin cell adenom... |
ORPHA:97289 |
Familial Colorectal Cancer Type X |
|
Gastrointestinal hemorrhage, Pituitary adenoma, Pancreatic adenocarcinoma, Neoplasm of the colon,... |
ORPHA:440437 |
Celiac Disease, Susceptibility To, 1 |
|
Diarrhea, Abdominal distention, Eczematoid dermatitis, Vomiting, Failure to thrive, Recurrent aph... |
OMIM:212750 |
Hypercholanemia, Familial 1 |
|
Steatorrhea, Fat malabsorption, Failure to thrive |
OMIM:607748 |
Iga Pemphigus |
|
Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Eosinophilia, Ulcerative colitis |
ORPHA:555905 |
Sarcoidosis, Susceptibility To, 1 |
|
Inflammation of the large intestine, Enlarged lacrimal glands, Pancytopenia, Splenomegaly, Genera... |
OMIM:181000 |
Thoraco-Abdominal Enteric Duplication |
|
Intestinal malrotation, Hepatomegaly, Duodenal stenosis |
ORPHA:1759 |
Martinez-Frias Syndrome |
|
Annular pancreas, Pancreatic hypoplasia, Intestinal malrotation, Jejunal atresia, Tracheoesophage... |
OMIM:601346 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Villous atrophy, Portal hypertension, Hepatic ... |
ORPHA:567983 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Protein-losing enteropathy, Hepatic failure, Abdominal distention, Pancreatic lymphangiectasis, S... |
OMIM:235255 |
Nk-Cell Enteropathy |
|
Hematochezia, Colonic diverticula, Gastroesophageal reflux, Diarrhea, Stercoral ulcer, Abnormal g... |
ORPHA:263665 |
Aicardi-Goutieres Syndrome 7 |
|
Diarrhea, Pancytopenia, Hepatic steatosis, Chilblains, Weight loss, Hepatomegaly, Atrophic gastri... |
OMIM:615846 |
Hereditary Central Diabetes Insipidus |
|
Diarrhea, Vomiting, Weight loss |
ORPHA:30925 |
Al Amyloidosis |
|
Howell-Jolly bodies, Gastrointestinal hemorrhage, Xerostomia, Postural hypotension with compensat... |
ORPHA:85443 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hematochezia, Giant cell hepatitis, Intrahepatic cholestasis, Hepatic failure, Failure to thrive,... |
OMIM:214950 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Atopic dermatitis, Hypereosinophilia, Leukocytosis, Abnormality of the gastrointestinal tract, We... |
ORPHA:2902 |
Behçet Disease |
|
Nausea and vomiting, Mitral regurgitation, Weight loss, Anorexia, Abdominal pain, Endocarditis, A... |
ORPHA:117 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Inflammation of the large intestine, Diarrhea, Periodontitis, Hepatic steatosis, Polycystic ovari... |
ORPHA:79259 |
Hermansky-Pudlak Syndrome 1 |
|
Hematochezia, Inflammation of the large intestine, Epistaxis, Cardiomyopathy, Abdominal pain, Col... |
OMIM:203300 |
Alexander Disease Type I |
|
Cachexia, Vomiting, Dysphagia, Failure to thrive |
ORPHA:363717 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Thrombocytopenia, Anemia, Asplenia, Hypo... |
OMIM:185070 |
Cocaine Intoxication |
|
Colitis, Glomerulonephritis, Tubulointerstitial nephritis, Abdominal pain, Tachycardia, Intestina... |
ORPHA:90068 |
Infection-Related Hemolytic Uremic Syndrome |
|
Pneumonia, Hypertensive crisis, Diarrhea, Vomiting, Secretory diarrhea, Bloody diarrhea, Gastroin... |
ORPHA:544482 |
Lymphoid Interstitial Pneumonia |
|
Rheumatoid arthritis, Eczematoid dermatitis, Failure to thrive, Skin rash, Pulmonary venous hyper... |
ORPHA:79128 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Increased RBC distribution width, Persistence of hemoglobin F, Hypertrophic cardiomyopathy, Hepat... |
OMIM:613673 |
Mungan Syndrome |
|
Barrett esophagus, Intestinal pseudo-obstruction, Tricuspid regurgitation, Gastroparesis, Megaduo... |
OMIM:611376 |
Familial Thrombocytosis |
|
Chronic myelogenous leukemia, Transient ischemic attack, Cerebral ischemia, Splenomegaly, Acute m... |
ORPHA:71493 |
Igg4-Related Aortitis |
|
Hypereosinophilia, Intestinal obstruction, Increased inflammatory response, Weight loss, Abdomina... |
ORPHA:449400 |
Giant Cell Arteritis |
|
Vasculitis, Hepatic failure, Epistaxis, Gastrointestinal infarctions, Cerebral ischemia, Arrhythm... |
ORPHA:397 |
Pgm3-Cdg |
|
Allergic rhinitis, Abnormal CD4:CD8 ratio, Lymphopenia, Esophagitis, Decreased proportion of CD4-... |
ORPHA:443811 |
Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Weight loss, ... |
ORPHA:97286 |
Wiskott-Aldrich Syndrome |
|
Inflammation of the large intestine, Diarrhea, Decreased proportion of CD8-positive T cells, Lymp... |
OMIM:301000 |
Malt Lymphoma |
|
Posterior uveitis, Nausea and vomiting, Constipation, Weight loss, Lymphadenopathy, Anemia, Abdom... |
ORPHA:52417 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Arrhythmia, Cachexia, Feeding difficulties, Congestive heart failure |
ORPHA:157973 |
Central Diabetes Insipidus |
|
Diarrhea, Failure to thrive, Nausea and vomiting, Weight loss, Anorexia |
ORPHA:178029 |
Holocarboxylase Synthetase Deficiency |
|
Perioral eczema, Eczematoid dermatitis, Nausea and vomiting, Keratoconjunctivitis, Weight loss, T... |
ORPHA:79242 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Inflammation of the large intestine, Right ventricular failure, Pulmonary embolism, Congestive he... |
ORPHA:70591 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Allergic rhinitis, Atopic dermatitis, Reduced natural killer cell count, Recurrent pneumonia, Ecz... |
OMIM:243700 |
Alveolar Echinococcosis |
|
Biliary cirrhosis, Vomiting, Cutaneous abscess, Decreased liver function, Abnormal mesentery morp... |
ORPHA:284 |
Whim Syndrome |
|
Pneumonia, Recurrent pneumonia, Lymphadenitis, Parotitis, Abnormal neutrophil morphology, Lymphop... |
ORPHA:51636 |
Juvenile Polyposis Syndrome |
|
Diarrhea, Stomach cancer, Juvenile gastrointestinal polyposis, Small intestinal polyposis, Abdomi... |
ORPHA:2929 |
Immunodeficiency 89 And Autoimmunity |
|
Decreased eosinophil count, Bronchiectasis, Hypochromic microcytic anemia, Crohn's disease |
OMIM:619632 |
Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
Erythrokeratodermia Variabilis |
|
Weight loss, Skin rash, Abnormal testis morphology |
ORPHA:317 |
Reactive Arthritis |
|
Aortic regurgitation, Inflammation of the large intestine, Diarrhea, Osteomyelitis, Recurrent aph... |
ORPHA:29207 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Aplasia of the thymus, Duodenal atresia |
ORPHA:3004 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Protein-losing enteropathy, Hepatic failure, Abdominal distention, Pancreatic lymphangiectasis, H... |
ORPHA:1655 |
Non-Functioning Paraganglioma |
|
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... |
ORPHA:94080 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Cholestatic liver disease, Inflammation of the large intestine, Cholestasis, Interface hepatitis,... |
ORPHA:562639 |
Microgastria-Limb Reduction Defect Syndrome |
|
Microgastria, Gastroesophageal reflux, Failure to thrive, Intestinal malrotation, Abnormality of ... |
ORPHA:2538 |
Kikuchi-Fujimoto Disease |
|
Abnormal lymph node morphology, Pustule, Weight loss, Neutropenia, Anorexia, Hepatomegaly, Vascul... |
ORPHA:50918 |
Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Conjunctivitis, Acute hepatic failure, Malabsorption, Nausea and vom... |
ORPHA:537 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Hepatic failure, Failure to thrive, Extramedullary hematopoiesis, Cholestas... |
ORPHA:79303 |
Trichothiodystrophy 3, Photosensitive |
|
Meckel diverticulum, Failure to thrive, Bilateral cryptorchidism, Lymphopenia, Neutropenia, Feedi... |
OMIM:616395 |
Spinocerebellar Ataxia 48 |
|
Cachexia, Dysphagia |
OMIM:618093 |
Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Diarrhea, Conjunctivitis, Acute hepatic failure, Nausea and vomiting... |
ORPHA:36426 |
Gm1 Gangliosidosis |
|
Gastroesophageal reflux, Failure to thrive, Cardiomyopathy, Aspiration pneumonia, Congestive hear... |
ORPHA:354 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Gastroesophageal reflux, Vomiting, Keratitis, Failure to thrive, Aspiration pneumonia, Nasogastri... |
ORPHA:1018 |
Tropical Pancreatitis |
|
Vomiting, Malnutrition, Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic ca... |
ORPHA:103918 |
Kindler Epidermolysis Bullosa |
|
Cheilitis, Inflammation of the large intestine, Periodontitis, Conjunctivitis, Esophagitis, Abnor... |
ORPHA:2908 |
Simple Cryoglobulinemia |
|
Nephritis, Gastrointestinal hemorrhage, Vasculitis, Congestive heart failure, Chronic lymphatic l... |
ORPHA:91139 |
Pearson Syndrome |
|
Pancytopenia, Hepatic steatosis, Neutropenia, Hypoparathyroidism, Hepatomegaly, Hypoplastic splee... |
ORPHA:699 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Inflammation of the large intestine, Lymphopenia, Absent uvula, Intestinal atresia, Rectovaginal ... |
OMIM:619708 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Hip osteoarthritis, Hepatosplenomegaly, Synovitis, Knee osteoarthritis, Iridocyclitis, Oligoarthr... |
ORPHA:85408 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Villous atrophy, Splenomegaly, Failure to thrive |
OMIM:608776 |
Glycogen Storage Disease Ic |
|
Inflammation of the large intestine, Spider hemangioma, Cyclic neutropenia, Chronic pancreatitis,... |
OMIM:232240 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun... |
ORPHA:731 |
Aicardi-Goutieres Syndrome 9 |
|
Acute pancreatitis, Hepatic fibrosis, Failure to thrive, Hepatosplenomegaly, Portal hypertension,... |
OMIM:619487 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Protein-losing enteropathy, Hydrocele testis, Feeding difficulties |
OMIM:618154 |
Christianson Syndrome |
|
Cachexia, Feeding difficulties in infancy, Gastroesophageal reflux, Dysphagia |
ORPHA:85278 |
Scedosporiosis |
|
Pneumonia, Abnormal jejunum morphology, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Septic ar... |
ORPHA:449280 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Vomiting, Diarrhea, Decreased liver function, Hepatic steatosis, Arrhythmia, Cachexia, Hepatomegaly |
ORPHA:42 |
Focal Myositis |
|
Myositis, Weight loss |
ORPHA:48918 |
Neuroblastoma, Susceptibility To, 1 |
|
Diarrhea, Failure to thrive, Weight loss, Anemia, Abdominal pain, Hypertension |
OMIM:256700 |
Spastic Paraplegia 84, Autosomal Recessive |
|
Crohn's disease |
OMIM:619621 |
Vipoma |
|
Increased circulating prolactin concentration, Nausea and vomiting, Weight loss, Elevated circula... |
ORPHA:97282 |
Glossopharyngeal Neuralgia |
|
Oral-pharyngeal dysphagia, Malnutrition, Syncope, Weight loss, Bradycardia, Jaw claudication, Ody... |
ORPHA:221098 |
Riboflavin Transporter Deficiency |
|
Hypertension, Cachexia, Dysphagia |
ORPHA:97229 |
Granulomatosis With Polyangiitis |
|
Nausea and vomiting, Intestinal obstruction, Prostatitis, Arrhythmia, Weight loss, Inflammatory a... |
ORPHA:900 |
Acrocephalopolydactylous Dysplasia |
|
Hepatic fibrosis, Polysplenia, Hypoplastic colon, Pancreatic fibrosis, Hepatomegaly, Hypoplasia o... |
OMIM:200995 |
Abetalipoproteinemia |
|
Fat malabsorption, Acanthocytosis |
OMIM:200100 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Early satiety, Diarrhea, Eosinophilic infiltration of the esophagus, Abdominal pain, High palate,... |
OMIM:147060 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatic fibrosis, Hepatic failure, Cholestasis, Hepatosplenomegaly, Esophagitis, Hepatic steatosi... |
ORPHA:541423 |
Idiopathic Bronchiectasis |
|
Myocardial infarction, Acute infectious pneumonia, Cachexia, Bronchiectasis |
ORPHA:60033 |
Cryptogenic Organizing Pneumonia |
|
Anorexia, Weight loss, Leukocytosis, Neutrophilia |
ORPHA:1302 |
Pyomyositis |
|
Testicular teratoma, Leukocytosis, Myositis, Weight loss, Sudden cardiac death, Recurrent cutaneo... |
ORPHA:764 |
Cog8-Cdg |
|
Protein-losing enteropathy, Failure to thrive |
ORPHA:95428 |
Pancreatic Lipase Deficiency |
|
Steatorrhea, Fat malabsorption |
OMIM:614338 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Meckel diverticulum, Nasogastric tube feeding, Dysphagia, Feeding difficulties, Poor suck |
ORPHA:163961 |
Trigonocephaly 1 |
|
High, narrow palate, Meckel diverticulum |
OMIM:190440 |
Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
Neuroblastoma |
|
Weight loss, Lymphadenopathy, Thrombocytopenia, Abdominal distention, Anemia, Chronic diarrhea, H... |
ORPHA:635 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Peritoneal abscess, Abdominal distention, Jejunoileal ulceration, Hepatitis, Intestinal malrotati... |
ORPHA:436252 |
Isolated Succinate-Coq Reductase Deficiency |
|
Abnormal atrioventricular conduction, Hypertrophic cardiomyopathy, Noncompaction cardiomyopathy, ... |
ORPHA:3208 |
Riddle Syndrome |
|
Pneumonia, Recurrent pneumonia, Diarrhea, Otitis media, Recurrent sinusitis, Chronic sinusitis, T... |
ORPHA:420741 |
Juvenile Dermatomyositis |
|
Vasculitis, Gastrointestinal hemorrhage, Cardiomyopathy, Bundle branch block, Skin rash, Myositis... |
ORPHA:93672 |
Peroxisome Biogenesis Disorder 1B |
|
Renal cyst, Hyperoxaluria |
OMIM:601539 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Malabsorption, Duodenal ulcer, Cachexia, Steatorrhea, Chronic diarrhea |
ORPHA:3217 |
Hypercalcemia, Infantile, 1 |
|
Vomiting, Weight loss, Failure to thrive |
OMIM:143880 |
Pneumocystosis |
|
Interstitial pneumonitis, Weight loss, Acute infectious pneumonia, Abnormal neutrophil count, Chr... |
ORPHA:723 |
Microvillus Inclusion Disease |
|
Diarrhea, Villous atrophy, Abdominal distention, Abnormal small intestinal villus morphology, Hyp... |
ORPHA:2290 |
Addison Disease |
|
Normocytic anemia, Thymoma, Hypotension, Diarrhea, Failure to thrive, Nausea and vomiting, Thiami... |
ORPHA:85138 |
Aredyld Syndrome |
|
Hepatomegaly, Cachexia, Splenomegaly |
ORPHA:1133 |
Multiple Myeloma |
|
Functional abnormality of the gastrointestinal tract, Splenomegaly, Weight loss, Lymphadenopathy,... |
ORPHA:29073 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss, Erythroderma, Poor appetite |
ORPHA:312 |
Multiple Endocrine Neoplasia, Type I |
|
Peptic ulcer, Diarrhea, Pituitary adenoma, Increased circulating prolactin concentration, Pituita... |
OMIM:131100 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Neutropenia, Anorexia, Hepatomegaly, Villous atrophy, Malabso... |
OMIM:557000 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Protein-losing enteropathy, Pericardial lymphangiectasia, Erysipelas, Intestinal lymphangiectasia... |
OMIM:235510 |
Beta-Ketothiolase Deficiency |
|
Hypotension, Diarrhea, Vomiting, Thrombocytosis, Leukocytosis, Weight loss, Anorexia, Hepatomegal... |
ORPHA:134 |
Lynch Syndrome |
|
Gastrointestinal hemorrhage, Adenoma sebaceum, Pituitary adenoma, Pancreatic adenocarcinoma, Mala... |
ORPHA:144 |
Huntington Disease |
|
Weight loss, Oral-pharyngeal dysphagia, Decreased body mass index |
ORPHA:399 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Hypotension, Diarrhea, Dilated cardiomyopathy, Anorexia, Leukopenia, Leukocytosis, Lipid accumula... |
ORPHA:20 |
Fumarase Deficiency |
|
Intrahepatic cholestasis, Hepatic failure, Polycythemia, Failure to thrive, High palate, Necrotiz... |
OMIM:606812 |
Glucose-Galactose Malabsorption |
|
Diarrhea, Vomiting, Failure to thrive, Malnutrition, Hyperactive bowel sounds, Osmotic diarrhea, ... |
ORPHA:35710 |
Parathyroid Carcinoma |
|
Peptic ulcer, Parathyroid carcinoma, Shortened QT interval, Pancreatic adenocarcinoma, Abnormal p... |
ORPHA:143 |
Congenital Disorder Of Glycosylation, Type Id |
|
Bifid uvula, Diarrhea, Vomiting, Failure to thrive, Villous atrophy, High palate |
OMIM:601110 |
Tropical Endomyocardial Fibrosis |
|
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... |
ORPHA:75565 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Multiple Endocrine Neoplasia Type 1 |
|
Diarrhea, Pituitary prolactin cell adenoma, Shortened QT interval, Pituitary thyrotropic cell ade... |
ORPHA:652 |
Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Thymoma, Aplasia/Hypoplasia of... |
ORPHA:227990 |
Renpenning Syndrome |
|
High, narrow palate, Decreased testicular size, Cachexia, Anal atresia, Cleft palate |
ORPHA:3242 |
Proprotein Convertase 1/3 Deficiency |
|
Diarrhea, Obesity, Villous atrophy, Malabsorption |
OMIM:600955 |
Peripheral Primitive Neuroectodermal Tumor |
|
Anorexia, Nausea and vomiting, Episodic abdominal pain, Weight loss, Pancreatitis, Abdominal dist... |
ORPHA:370348 |
Metachromatic Leukodystrophy |
|
Abnormal stomach morphology, Gastrostomy tube feeding in infancy, Abnormal duodenum morphology, A... |
ORPHA:512 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Weight loss, Dysphagia, Aspiration pneumonia |
ORPHA:216866 |
Diencephalic Syndrome |
|
Cachexia, Decreased body weight |
ORPHA:1672 |
Acrodermatitis Enteropathica |
|
Cheilitis, Failure to thrive, Furrowed tongue, Malabsorption, Pustule, Weight loss, Anorexia, Con... |
ORPHA:37 |
Cat Eye Syndrome |
|
Anal stenosis, Meckel diverticulum, Volvulus, Intestinal malrotation, Biliary atresia, Pulmonic s... |
OMIM:115470 |
Diffuse Alveolar Hemorrhage |
|
Leukocytosis, Pulmonary venous hypertension, Weight loss, Thrombocytopenia, Anemia |
ORPHA:90060 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Pneumonia, Vomiting, Dilated cardiomyopathy, Failure to thrive, Malnutrition, Pyoderma, Constipat... |
ORPHA:79404 |
Solitary Fibrous Tumor |
|
Neoplasm of the liver, Constipation, Weight loss, Abnormal peritoneum morphology |
ORPHA:2126 |
Granulomatosis With Polyangiitis |
|
Diffuse alveolar hemorrhage, Keratitis, Episcleritis, Localized pulmonary hemorrhage, Weight loss... |
OMIM:608710 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Rheumatoid arthritis, Budd-Chiari syndrome, Large vessel vasculitis, Psoriasif... |
ORPHA:49041 |
Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Thymoma, Aplasia/Hypoplasia of... |
ORPHA:227982 |
Graves Disease |
|
Congestive heart failure, Weight loss, Goiter |
OMIM:275000 |
Shwachman-Diamond Syndrome |
|
Aplastic anemia, Hypopituitarism, Pancytopenia, Impaired neutrophil chemotaxis, Acute myeloid leu... |
ORPHA:811 |
X-Linked Creatine Transporter Deficiency |
|
Aganglionic megacolon, Cachexia, Ileus, Constipation |
ORPHA:52503 |
Ring Chromosome 10 Syndrome |
|
Aganglionic megacolon, Cachexia |
ORPHA:1438 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... |
ORPHA:276621 |
Igg4-Related Kidney Disease |
|
Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Abnormal mesentery morphology, Pr... |
ORPHA:449395 |
Systemic Lupus Erythematosus |
|
Discoid lupus rash, Leukopenia, Malar rash, Hypertension, Weight loss, Lupus nephritis, Lymphaden... |
ORPHA:536 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Palpitations, Weight loss, Goiter |
OMIM:188580 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Gastroesophageal reflux, Dilated cardiomyopathy, Anal fissure, Malnutrition, Ankyloglossia, Iron ... |
ORPHA:79408 |
Multiple Endocrine Neoplasia Type 4 |
|
Thymoma, Peptic ulcer, Diarrhea, Pituitary adenoma, Hyperparathyroidism, Pituitary prolactin cell... |
ORPHA:276152 |
Liposarcoma |
|
Abdominal pain, Weight loss, Nausea and vomiting |
ORPHA:69078 |
Familial Glucocorticoid Deficiency |
|
Leydig cell neoplasia, Hypotension, Vomiting, Diarrhea, Failure to thrive, Hypertrophic cardiomyo... |
ORPHA:361 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
Renal Nutcracker Syndrome |
|
Nausea, Syncope, Weight loss, Orthostatic hypotension, Anemia, Abdominal pain, Tachycardia |
ORPHA:71273 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Failure to thrive in infancy, Cachexia, Constipation, Feeding difficulties |
OMIM:616801 |
Mucolipidosis Type Ii |
|
Abnormal atrioventricular valve physiology, Aortic regurgitation, Cardiomyopathy, Hepatosplenomeg... |
ORPHA:576 |
Trichohepatoenteric Syndrome 1 |
|
Aortic regurgitation, Bifid uvula, Hepatic fibrosis, Hepatic failure, Intractable diarrhea, Failu... |
OMIM:222470 |
Nocardiosis |
|
Pneumonia, Vomiting, Lymphadenitis, Cutaneous abscess, Keratitis, Osteomyelitis, Infectious encep... |
ORPHA:31204 |
Fatal Familial Insomnia |
|
Constipation, Dysphagia, Weight loss |
OMIM:600072 |
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form |
|
Gastroesophageal reflux, Esophagitis, Feeding difficulties |
ORPHA:79350 |
Moynahan Syndrome |
|
Cachexia |
ORPHA:2574 |
Bullous Pemphigoid |
|
Psoriasiform dermatitis, Weight loss, Eczematoid dermatitis |
ORPHA:703 |
Pericardial And Diaphragmatic Defect |
|
Meckel diverticulum, Intestinal malrotation, Palpitations, Abnormal gastrointestinal tract morpho... |
ORPHA:2847 |
Poems Syndrome |
|
Polycythemia, Increased circulating prolactin concentration, Splenomegaly, Pulmonary arterial hyp... |
ORPHA:2905 |
Juvenile Huntington Disease |
|
Weight loss |
ORPHA:248111 |
Perry Syndrome |
|
Hypotension, Weight loss |
ORPHA:178509 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Cachexia, Narrow palate, High palate, Gastroesophageal reflux |
OMIM:618186 |
Lowe Oculocerebrorenal Syndrome |
|
Aminoaciduria, Elevated amniotic fluid alpha-fetoprotein, Low-molecular-weight proteinuria, Stage... |
OMIM:309000 |
Hereditary Hyperekplexia |
|
Hiatus hernia, Esophagitis, Gastroesophageal reflux |
ORPHA:3197 |
Rett Syndrome |
|
Gastroesophageal reflux, Abnormal T-wave, Cachexia, Constipation, Prolonged QTc interval |
OMIM:312750 |
Rheumatoid Arthritis |
|
Vasculitis, Rheumatoid arthritis, Weight loss |
OMIM:180300 |
Esophageal Atresia |
|
Barrett esophagus, Gastrointestinal carcinoma, Gastroesophageal reflux, Vomiting, Small for gesta... |
ORPHA:1199 |
Mednik Syndrome |
|
Hepatic fibrosis, Microcolon, Diarrhea, Volvulus, Cholestasis, Jejunal atresia, Cirrhosis |
OMIM:609313 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Inflammation of the large intestine, Recurrent otitis media, Gastrointestinal angiodysplasia, Hep... |
ORPHA:99413 |
Turner Syndrome |
|
Inflammation of the large intestine, Recurrent otitis media, Gastrointestinal angiodysplasia, Hep... |
ORPHA:881 |
Mosaic Monosomy X |
|
Inflammation of the large intestine, Recurrent otitis media, Gastrointestinal angiodysplasia, Hep... |
ORPHA:99228 |
Monosomy X |
|
Inflammation of the large intestine, Recurrent otitis media, Gastrointestinal angiodysplasia, Hep... |
ORPHA:99226 |
Oromandibular Dystonia |
|
Weight loss, Dysphagia |
ORPHA:93958 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Pneumonia, Diarrhea, Xerostomia, Inflammatory abnormality of the skin, Oral-pharyngeal dysphagia,... |
ORPHA:95455 |
Insulin-Resistance Syndrome Type B |
|
Pneumonia, Nephritis, Biliary cirrhosis, Abnormality of body weight, Leukopenia, Skin rash, Polyc... |
ORPHA:2298 |
Diamond-Blackfan Anemia 7 |
|
Increased mean corpuscular volume, Recurrent otitis media, Esophagitis, Macrocytic anemia, Neutro... |
OMIM:612562 |
Tetrasomy 12P |
|
Abnormal soft palate morphology, Anal atresia, Cachexia |
ORPHA:884 |
Mcdonough Syndrome |
|
Cachexia, Cryptorchidism |
ORPHA:2471 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Enlarged lacrimal glands, Xerostomia, Abnormality of the submandibular glands, Enlargement of par... |
ORPHA:79078 |
Acute Adrenal Insufficiency |
|
Normocytic anemia, Hypotension, Diarrhea, Failure to thrive, Nausea and vomiting, Constipation, W... |
ORPHA:95409 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Congenital shortened small intestine, Meckel diverticulum, Annular pancreas, Right-to-left shunt,... |
OMIM:265380 |
Liver Disease, Severe Congenital |
|
Diarrhea, Portal inflammation, Recurrent otitis media, Hepatic steatosis, Abnormal hepatic echoge... |
OMIM:619991 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Vomiting, Gastroesophageal reflux, Failure to thrive, Esophagitis, Megaloblastic anemia, Feeding ... |
ORPHA:79351 |
Serkal Syndrome |
|
Malrotation of small bowel, Pulmonic stenosis |
ORPHA:139466 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hepatic fibrosis, Cholelithiasis, Bacterial endocarditis, Abnormality of the spleen, Hepatospleno... |
ORPHA:2072 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Duodenal stenosis |
ORPHA:2547 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tachycardia, Weight loss, Goiter |
OMIM:613239 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Diarrhea, Thyroid hyperplasia, Goiter, Weight loss, Small for gestational age |
ORPHA:424 |
Hermansky-Pudlak Syndrome |
|
Epistaxis, Gastrointestinal hemorrhage, Cardiomyopathy, Malabsorption, Weight loss, Neutropenia, ... |
ORPHA:79430 |
Chronic Graft Versus Host Disease |
|
Gastroesophageal reflux, Xerostomia, Diarrhea, Urinary bladder inflammation, Fasciitis, Pancytope... |
ORPHA:99921 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Cryptorchi... |
OMIM:301310 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatic fibrosis, Diarrhea, Vomiting, Failure to thrive, Cardiomyopathy, Villous atrophy, Hepatic... |
OMIM:212065 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... |
ORPHA:29072 |
Silver-Russell Syndrome |
|
Gastroesophageal reflux, Failure to thrive in infancy, Decreased testicular size, Obesity, Crypto... |
ORPHA:813 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Diarrhea, Malnutrition, Abnormal erythrocyte morphology, Acanthocytosis, Decreased body weight, F... |
ORPHA:96180 |
Microphthalmia, Syndromic 9 |
|
Multilobulated spleen, Hypoplastic spleen, Cryptorchidism, Pulmonic stenosis |
OMIM:601186 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss, Bronchiectasis |
ORPHA:79127 |
Tarp Syndrome |
|
Hepatic failure, Meckel diverticulum, Subdural hemorrhage, Failure to thrive, High palate, Glosso... |
OMIM:311900 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Severe failure to thrive, Cachexia, Constipation, Nasogastric tube feeding in infancy, Feeding di... |
ORPHA:371364 |
Tracheobronchopathia Osteochondroplastica |
|
Pneumonia, Recurrent pneumonia, Esophagitis |
ORPHA:3348 |
Sarcoidosis |
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Abnormal lymph node morphology, Arrhythmia, Weight loss, Erythema nodosum, Hepatomegaly, Tubuloin... |
ORPHA:797 |
Erdheim-Chester Disease |
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Congestive heart failure, Osteomyelitis, Nausea and vomiting, Skin rash, Weight loss, Anemia, Abd... |
ORPHA:35687 |
Infantile Krabbe Disease |
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Vomiting, Gastroesophageal reflux, Failure to thrive, Cachexia, Abnormal heart rate variability, ... |
ORPHA:206436 |
Fryns Syndrome |
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Meckel diverticulum, Polysplenia, Intestinal malrotation, Large for gestational age, Cryptorchidi... |
OMIM:229850 |
Localized Scleroderma |
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Vasculitis, Gastroesophageal reflux, Fasciitis, Esophagitis, Hashimoto thyroiditis, Arrhythmia, R... |
ORPHA:90289 |
Tarp Syndrome |
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Failure to thrive, Extramedullary hematopoiesis, Cryptorchidism, Abnormal duodenum morphology, Gl... |
ORPHA:2886 |
Bannayan-Riley-Ruvalcaba Syndrome |
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Abnormal large intestine morphology, Intestinal polyposis, Intracranial hemorrhage, Hashimoto thy... |
ORPHA:109 |
Meier-Gorlin Syndrome 7 |
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Anal stenosis, Second degree atrioventricular block, Anteriorly placed anus, Duodenal stenosis, B... |
OMIM:617063 |
Frontometaphyseal Dysplasia 2 |
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Bifid uvula, Gastroesophageal reflux, Cryptorchidism, Feeding difficulties in infancy, Pulmonic s... |
OMIM:617137 |
Huntington Disease-Like 1 |
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Weight loss |
ORPHA:157941 |
Bardet-Biedl Syndrome |
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Hepatic fibrosis, Inflammation of the large intestine, Cardiomyopathy, Decreased testicular size,... |
ORPHA:110 |
Adrenocortical Carcinoma |
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Palpitations, Increased body weight, Adrenocorticotropic hormone deficiency, Weight loss, Abdomin... |
ORPHA:1501 |
Familial Gestational Hyperthyroidism |
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Diarrhea, Weight loss, Thyroid hyperplasia, Goiter |
ORPHA:99819 |
Pemphigus Vulgaris |
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Feeding difficulties in infancy, Weight loss, Recurrent cutaneous abscess formation, Feeding diff... |
ORPHA:704 |
Musculocontractural Ehlers-Danlos Syndrome |
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Malrotation of small bowel, Abnormal mesentery morphology, Cryptorchidism, Constipation, High pal... |
ORPHA:2953 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Acne, Malignant gastrointestinal tract tumors, Diarrhea, Abnormal lymph node morphology, Lymphope... |
ORPHA:99889 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
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High, narrow palate, Vomiting, Gastroesophageal reflux, Failure to thrive, Decreased response to ... |
ORPHA:96182 |
African Trypanosomiasis |
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Diarrhea, Hepatosplenomegaly, Arrhythmia, Weight loss, Hepatomegaly, Jaundice, Third degree atrio... |
ORPHA:3385 |
Diarrhea 10, Protein-Losing Enteropathy Type |
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Protein-losing enteropathy, Hematochezia, Secretory diarrhea, Cryptorchidism, Feeding difficulties |
OMIM:618183 |
Fanconi Anemia |
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Meckel diverticulum, Aplasia/Hypoplasia of the uvula, Duodenal stenosis, Hypertrophic cardiomyopa... |
ORPHA:84 |
Abetalipoproteinemia |
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Hepatic fibrosis, Vomiting, Failure to thrive, Congestive heart failure, Acanthocytosis, Hepatic ... |
ORPHA:14 |
Pelizaeus-Merzbacher Disease |
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Failure to thrive in infancy, Cachexia, Bowel incontinence |
ORPHA:702 |
Nijmegen Breakage Syndrome |
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Anal stenosis, Acute leukemia, Recurrent pneumonia, Autoimmune hemolytic anemia, Cachexia, Anal a... |
ORPHA:647 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
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Cachexia, Weight loss |
ORPHA:1979 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
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Dilated cardiomyopathy, Intestinal pseudo-obstruction, Gastroparesis, Mitral regurgitation, Weigh... |
OMIM:607459 |
Dermatomyositis |
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Vasculitis, Abnormal eosinophil morphology, Heliotrope rash, Sinus tachycardia, Skin rash, Myosit... |
ORPHA:221 |
Amyotrophic Lateral Sclerosis |
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Xerostomia, Nausea and vomiting, Cachexia, Dysphagia, Tongue atrophy |
ORPHA:803 |
Hereditary Late-Onset Parkinson Disease |
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Orthostatic hypotension due to autonomic dysfunction, Weight loss, Dysphagia, Chronic constipation |
ORPHA:411602 |
Arterial Tortuosity Syndrome |
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Gastroesophageal reflux, Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyo... |
ORPHA:3342 |
8P23.1 Microdeletion Syndrome |
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Hypertrophic cardiomyopathy, Obesity, Cryptorchidism, Weight loss, High palate |
ORPHA:251071 |
19Q13.11 Microdeletion Syndrome |
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Failure to thrive, Supernumerary nipple, Cryptorchidism, Cachexia, Feeding difficulties |
ORPHA:217346 |
Juvenile Amyotrophic Lateral Sclerosis |
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Cachexia, Dysphagia, Gastrostomy tube feeding in infancy |
ORPHA:300605 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
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Cachexia |
ORPHA:1389 |
Parkinson Disease 4, Autosomal Dominant |
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Weight loss, Orthostatic hypotension |
OMIM:605543 |
Osteosarcoma |
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Weight loss |
ORPHA:668 |
Tsh-Secreting Pituitary Adenoma |
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Secondary growth hormone deficiency, Hypotension, Vomiting, Increased circulating prolactin conce... |
ORPHA:91347 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
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Esophagitis, Hepatic steatosis, Achalasia, Hepatomegaly, Feeding difficulties |
OMIM:615356 |
Fraser Syndrome 1 |
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Abnormal small intestine morphology, Cryptorchidism, Abnormality of the anus, Abnormal thymus mor... |
OMIM:219000 |
Camurati-Engelmann Disease |
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Hypertrophic cardiomyopathy, Slender build, Leukopenia, Splenomegaly, Anemia, Feeding difficultie... |
ORPHA:1328 |
Short Syndrome |
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Weight loss, Poor appetite |
ORPHA:3163 |
Cystinosis, Nephropathic |
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Failure to thrive, Exocrine pancreatic insufficiency, Failure to thrive in infancy, Splenomegaly,... |
OMIM:219800 |
Flynn-Aird Syndrome |
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Cachexia |
ORPHA:2047 |
Dermatosparaxis Ehlers-Danlos Syndrome |
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Hiatus hernia, Esophagitis, Gastroesophageal reflux |
ORPHA:1901 |
Pitt-Hopkins Syndrome |
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Gastroesophageal reflux, Failure to thrive, Supernumerary nipple, Esophagitis, Cryptorchidism, Hi... |
ORPHA:2896 |
9Q33.3Q34.11 Microdeletion Syndrome |
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Epistaxis, Esophagitis, Cryptorchidism, Telangiectasia, Constipation, Dysphagia |
ORPHA:495818 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
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Aortic regurgitation, Intestinal malrotation, Tricuspid regurgitation, Cryptorchidism, Mitral reg... |
OMIM:601776 |
Oculopharyngodistal Myopathy 1 |
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Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Weight loss,... |
OMIM:164310 |
Thyrotoxic Periodic Paralysis |
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Second degree atrioventricular block, Obesity, Palpitations, Shortened PR interval, Constipation,... |
ORPHA:79102 |
Trisomy 8P |
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Bifid uvula, Malrotation of small bowel, Annular pancreas, Cryptorchidism, Aplasia/Hypoplasia of ... |
ORPHA:264450 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
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Cachexia |
ORPHA:1933 |
Isolated Permanent Neonatal Diabetes Mellitus |
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Pancreatic hypoplasia, Failure to thrive, Weight loss, Reduced pancreatic beta cells, Hypovolemia |
ORPHA:99885 |
Autosomal Recessive Cutis Laxa Type 1 |
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Recurrent pneumonia, Small bowel diverticula, Congestive heart failure, Pyelonephritis, Supravalv... |
ORPHA:90349 |
Mosaic Trisomy 16 |
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Meckel diverticulum, Anteriorly placed anus, Gastrostomy tube feeding in infancy, Abnormality of ... |
ORPHA:1708 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
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Cachexia |
ORPHA:2774 |
Pulmonary Alveolar Microlithiasis |
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Right ventricular failure, Increased pulmonary vascular resistance, Weight loss, Hepatomegaly, Te... |
ORPHA:60025 |
Mowat-Wilson Syndrome |
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Aortic valve stenosis, Bifid uvula, Submucous cleft of soft and hard palate, Vomiting, Recurrent ... |
ORPHA:2152 |
X-Linked Intellectual Disability, Cabezas Type |
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Decreased testicular size, High palate, Cachexia, Obesity |
ORPHA:85293 |
Thrombocytopenia-Absent Radius Syndrome |
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Meckel diverticulum, Hepatosplenomegaly, Leukocytosis, Eosinophilia, Seborrheic dermatitis, Throm... |
OMIM:274000 |
Congenital Tracheal Stenosis |
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Meckel diverticulum, Duodenal stenosis, Abnormal stomach morphology, Abnormal gastrointestinal tr... |
ORPHA:141127 |
Perry Syndrome |
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Weight loss |
OMIM:168605 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Normocytic anemia, Posterior uveitis, Nongranulomatous uveitis, Panuveitis, Reduced hematocrit, S... |
ORPHA:91500 |
Trisomy 18 |
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Cryptorchidism, Cachexia, Anal atresia, Esophageal atresia, Narrow palate, Cleft palate |
ORPHA:3380 |
Choreoacanthocytosis |
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Dilated cardiomyopathy, Acanthocytosis, Protruding tongue, Splenomegaly, Abnormal erythrocyte enz... |
ORPHA:2388 |
Congenital Fiber-Type Disproportion Myopathy |
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Failure to thrive, Aspiration pneumonia, Weight loss, Nasogastric tube feeding in infancy, High p... |
ORPHA:2020 |
Wolf-Hirschhorn Syndrome |
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Accessory spleen, Malrotation of small bowel, Gastroesophageal reflux, Failure to thrive, Cryptor... |
OMIM:194190 |
Cockayne Syndrome |
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Gastroesophageal reflux, Malar rash, Retinal hemorrhage, Splenomegaly, Cryptorchidism, Gastrostom... |
ORPHA:191 |
Occipital Horn Syndrome |
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High, narrow palate, Gastroesophageal reflux, Hepatitis, Cholestasis, Gastroparesis, Abnormal eso... |
ORPHA:198 |
Acquired Central Diabetes Insipidus |
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Weight loss |
ORPHA:95626 |
Viss Syndrome |
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Cleft soft palate, Chronic constipation, Abdominal distention, Celiac disease, High palate, Dysph... |
OMIM:619472 |
Hutchinson-Gilford Progeria Syndrome |
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Aortic valve stenosis, Aortic regurgitation, Ankyloglossia, Left ventricular systolic dysfunction... |
ORPHA:740 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Narrow palate, Exaggerated median tongue furrow, Meckel diverticulum, Polysplenia, Supernumerary ... |
OMIM:312870 |
Schwartz-Jampel Syndrome |
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Testicular torsion, Decreased testicular size, Decreased body weight, Feeding difficulties in inf... |
ORPHA:800 |
Xfe Progeroid Syndrome |
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Cachexia, Hypertension, Failure to thrive |
OMIM:610965 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
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Short hard palate, Cachexia, Anorexia |
ORPHA:1969 |
Down Syndrome |
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Duodenal stenosis, Protruding tongue, Acute megakaryocytic leukemia, Aganglionic megacolon, Macro... |
OMIM:190685 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
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Hypotension, Vomiting, Failure to thrive, Shock, Decreased testicular size, Weight loss, Testicul... |
ORPHA:90794 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
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Cachexia, Skin rash |
ORPHA:220295 |
Autosomal Dominant Cutis Laxa |
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Aortic regurgitation, Vomiting, Small bowel diverticula, Congestive heart failure, Pyelonephritis... |
ORPHA:90348 |
Stickler Syndrome |
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Bifid uvula, Gastroesophageal reflux, Slender build, Short hard palate, Feeding difficulties in i... |
ORPHA:828 |
Gerstmann-Straussler Disease |
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Weight loss |
OMIM:137440 |
Fryns-Smeets-Thiry Syndrome |
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Cachexia |
ORPHA:2058 |
Autoimmune Pulmonary Alveolar Proteinosis |
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Weight loss |
ORPHA:747 |
Marfan Syndrome |
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High, narrow palate, Aortic regurgitation, Congestive heart failure, Slender build, Mitral regurg... |
ORPHA:558 |
Goodpasture Syndrome |
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Anemia, Pulmonary hemorrhage, Weight loss, Glomerulonephritis |
OMIM:233450 |
Proteus Syndrome |
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Thymus hyperplasia, Pulmonary embolism, Neoplasm of the thymus, Splenomegaly, Enlarged polycystic... |
ORPHA:744 |
Genitopatellar Syndrome |
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Malrotation of small bowel, Anal stenosis, Anteriorly placed anus, Cryptorchidism, Anal atresia, ... |
OMIM:606170 |
Seckel Syndrome |
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Cachexia |
ORPHA:808 |
Norrie Disease |
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Cachexia, Cryptorchidism, Failure to thrive |
ORPHA:649 |