Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Inflammatory Bowel Disease 29 |
|
Crohn's disease, Ulcerative colitis |
OMIM:618077 |
Inflammatory Bowel Disease 3 |
|
Ulcerative colitis |
OMIM:604519 |
Inflammatory Bowel Disease 21 |
|
Ulcerative colitis |
OMIM:612354 |
Attention Deficit-Hyperactivity Disorder 8 |
|
Attention deficit hyperactivity disorder |
OMIM:619957 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Inflammatory Bowel Disease 13 |
|
Inflammation of the large intestine |
OMIM:612244 |
Inflammatory Bowel Disease (Crohn Disease) 19 |
|
Inflammation of the large intestine |
OMIM:612278 |
Inflammatory Bowel Disease 11 |
|
Diarrhea, Weight loss, Abdominal pain, Inflammation of the large intestine, Hematochezia |
OMIM:191390 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Crohn's disease, Recurrent aphthous stomatitis, Diarrhea, Weight loss, Abdominal pain, Ulcerative... |
OMIM:266600 |
Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Carcinoma Of Esophagus |
|
Gastroesophageal reflux, Weight loss, Esophageal neoplasm, Abnormal intestine morphology, Dysphag... |
ORPHA:70482 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Inflammation of the large intestine, Elevated fecal sodium, Secretory diarrhea, Abdominal distention |
OMIM:616868 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Crohn's disease, Enterocolitis, Perianal abscess, Folliculitis, Pyoderma, Colitis, Hematochezia |
OMIM:613148 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Vomiting, Enterocolitis, Aganglionic megacolon, Abdominal distention, Constipation, Abnormality o... |
OMIM:142623 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Bloody diarrhea, Vomiting, Pancolitis, Abdominal pain, Ileitis, Abnormal intestine morphology, Ga... |
OMIM:619079 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Enterocolitis, Perianal abscess, Folliculitis, Pancolitis, Enterocutaneous fistula, Rectovaginal ... |
OMIM:612567 |
Enterocolitis |
|
Enterocolitis, Ulcerative colitis, Abdominal distention, Hematochezia |
OMIM:226150 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Bloody diarrhea, Ulcerative colitis |
OMIM:619398 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastroesophageal reflux, Poor suck, Weight loss, Abnormal large intestine morphology, Nausea and ... |
ORPHA:2198 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
Ficolin 3 Deficiency |
|
Necrotizing enterocolitis |
OMIM:613860 |
Idiopathic Achalasia |
|
Gastroesophageal reflux, Recurrent aspiration pneumonia, Weight loss, Malnutrition, Dysphagia |
ORPHA:930 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Colitis |
ORPHA:88643 |
Mantle Cell Lymphoma |
|
Anorexia, Weight loss, Abnormality of the gastrointestinal tract |
ORPHA:52416 |
Cap Polyposis |
|
Atrophic gastritis, Colorectal polyposis, Diarrhea, Weight loss, Abdominal pain, Abdominal disten... |
ORPHA:160148 |
5-Oxoprolinase Deficiency |
|
Abdominal pain, Vomiting, Enterocolitis, Diarrhea |
OMIM:260005 |
Pseudomyxoma Peritonei |
|
Weight loss, Nausea and vomiting, Abdominal pain, Inflammation of the large intestine, Intestinal... |
ORPHA:26790 |
Pulmonary Blastoma |
|
Recurrent pneumonia, Weight loss |
ORPHA:64741 |
Visceral Myopathy 2 |
|
Gastroesophageal reflux, Esophageal stricture, Ineffective esophageal peristalsis, Volvulus, Mega... |
OMIM:619350 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
Hirschsprung Disease |
|
Diarrhea, Weight loss, Nausea and vomiting, Functional abnormality of the gastrointestinal tract,... |
ORPHA:388 |
Intestinal Dysmotility Syndrome |
|
Decreased intestinal transit time, High palate, Diarrhea, Weight loss, Projectile vomiting, Abdom... |
OMIM:620045 |
Immunodeficiency, Common Variable, 11 |
|
Failure to thrive, Crohn's disease, Mucoid diarrhea, Inflammation of the large intestine |
OMIM:615767 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Isolated Congenital Hypoglossia/Aglossia |
|
Nasogastric tube feeding in infancy, Gastrostomy tube feeding in infancy, Aspiration pneumonia, W... |
ORPHA:141152 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:613370 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Weight loss, Malabsorption, Abdominal pain, Cachexia, Abdominal distention, Malnutrition, Gastroi... |
OMIM:613662 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Secondary Short Bowel Syndrome |
|
Vomiting, Enterocolitis, Diarrhea, Villous atrophy, Weight loss, Small intestinal dysmotility, Ag... |
ORPHA:95427 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Bronchiectasis, Ulcerative colitis, Colonic eosinophilia, Chronic diarrhea, Pneumonia, Atopic der... |
OMIM:617638 |
Gastroesophageal Reflux |
|
Esophagitis, Gastroesophageal reflux, Esophageal neoplasm, Barrett esophagus |
OMIM:109350 |
Immunodeficiency 37 |
|
Infectious encephalitis, Colitis |
OMIM:616098 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Minimal change glomerulonephritis, Colitis |
OMIM:617006 |
Esophagitis, Eosinophilic, 1 |
|
Esophagitis, Failure to thrive, Vomiting, Dysphagia |
OMIM:610247 |
Esophagitis, Eosinophilic, 2 |
|
Esophagitis, Failure to thrive, Vomiting, Dysphagia |
OMIM:613412 |
Smith-Magenis syndrome |
|
Hyperactivity |
DECIPHER:8 |
Epidermolysis Bullosa Acquisita |
|
Inflammation of the large intestine, Abdominal pain |
ORPHA:46487 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity |
OMIM:615493 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity |
ORPHA:356996 |
Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, Diarrhea, Bronchiectasis, Skin rash, Failure to thrive, Inflammation of the lar... |
OMIM:618108 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Folliculitis, Hepatitis, Erythema nodosum, Inflammation of the large intestine, Colitis, Recurren... |
OMIM:300635 |
Ménétrier Disease |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Stomach cancer, Vomiting, Diarrhea, ... |
ORPHA:2494 |
Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
Undifferentiated Pleomorphic Sarcoma |
|
Anorexia, Weight loss |
ORPHA:2023 |
Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia |
OMIM:613402 |
Developmental And Epileptic Encephalopathy 43 |
|
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder, Ataxia |
OMIM:617113 |
Pfapa Syndrome |
|
Weight loss, Nausea and vomiting, Malabsorption, Arthritis, Abdominal pain, Infectious encephalitis |
ORPHA:42642 |
Trichohepatoenteric Syndrome 2 |
|
Bloody diarrhea, Chronic diarrhea, Diarrhea, Villous atrophy, Small for gestational age, Failure ... |
OMIM:614602 |
Hartnup Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder, Episodic ataxia |
OMIM:234500 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Immunodeficiency 76 |
|
Recurrent pneumonia, Chronic diarrhea, Colitis |
OMIM:619164 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Diarrhea, Weight loss, Abdominal distention, Protein-losing enteropathy, Hematochezia |
ORPHA:103910 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Recurrent aphthous stomatitis, Diarrhea, Abdominal pain, Recurrent sinusitis, Perioral eczema, Co... |
OMIM:613960 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus, Polyphagia, Polydipsia |
OMIM:222100 |
Multicentric Reticulohistiocytosis |
|
Arthritis, Cachexia |
ORPHA:139436 |
Congenital Tufting Enteropathy |
|
Elevated fecal osmolality, Vomiting, Chronic diarrhea, Abnormal large intestinal mucosa morpholog... |
ORPHA:92050 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormal gastric mucosa morphology, Abnormality of the gastrointestinal tract, Malabsorption, Cac... |
ORPHA:1876 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Skin rash, Anterior uveitis, Ileal ulcer, Colitis |
OMIM:616744 |
Malignant Peritoneal Mesothelioma |
|
Weight loss, Abdominal pain, Abdominal distention, Peritonitis, Ileus |
ORPHA:168811 |
Laryngeal Neuroendocrine Tumor |
|
Anorexia, Weight loss, Oral-pharyngeal dysphagia |
ORPHA:100083 |
Chronic Hiccup |
|
Malnutrition, Weight loss |
ORPHA:396 |
Hirschsprung Disease, Susceptibility To, 3 |
|
Aganglionic megacolon, Total colonic aganglionosis, Long-segment aganglionic megacolon |
OMIM:613711 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Esophageal food impaction, Gastroesophageal reflux, Vomiting, Eosinophilic infiltration of the es... |
ORPHA:411696 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Tremor, Dystonia, Ataxia |
OMIM:615924 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Gait ataxia, Hyperactivity, Inability to walk, Gait disturbance, Dysmetria, Tremor |
OMIM:618090 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Immunodeficiency 70 |
|
Achalasia, Recurrent sinusitis, Celiac disease, Furuncle, Colitis |
OMIM:618969 |
Eosinophilic Gastroenteritis |
|
Vomiting, Diarrhea, Weight loss, Abnormality of the gastrointestinal tract, Malabsorption, Allerg... |
ORPHA:2070 |
Reticular Dysgenesis |
|
Diarrhea, Weight loss, Malabsorption, Skin rash, Failure to thrive, Chronic otitis media |
ORPHA:33355 |
Linear Iga Dermatosis |
|
Inflammation of the large intestine |
ORPHA:46488 |
Immunodeficiency 14B, Autosomal Recessive |
|
Recurrent sinusitis, Inflammation of the large intestine, Recurrent pneumonia, Colitis, Chronic d... |
OMIM:619281 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Arthritis, Sterile arthritis, Cystic acne, Colitis, Acne |
OMIM:604416 |
Developmental And Epileptic Encephalopathy 104 |
|
Hyperactivity, Agitation |
OMIM:619970 |
Hyperlysinemia, Type I |
|
Hyperactivity |
OMIM:238700 |
Carney-Stratakis Syndrome |
|
Weight loss, Abdominal pain, Intestinal obstruction, Gastrointestinal hemorrhage, Dysphagia, Gast... |
ORPHA:97286 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Choreoathetosis, Ataxia, Tremor, Dystonia |
OMIM:612716 |
Bare Lymphocyte Syndrome, Type Ii |
|
Villous atrophy, Malabsorption, Chronic mucocutaneous candidiasis, Cholangitis, Viral hepatitis, ... |
OMIM:209920 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Tremor, Broad-based gait |
OMIM:619470 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Perianal abscess, Weight loss, Diarrhea, Skin rash, Chronic constipation, Arthritis, Abdominal pa... |
OMIM:301074 |
Galactose Epimerase Deficiency |
|
Feeding difficulties, Weight loss, Nausea and vomiting |
ORPHA:79238 |
Autoinflammation With Infantile Enterocolitis |
|
Enterocolitis, Villous atrophy, Skin rash, Feeding difficulties in infancy, Episodic vomiting, Fa... |
OMIM:616050 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Impulsivity, Hyperactivity, Agitation |
OMIM:309548 |
Hereditary Central Diabetes Insipidus |
|
Vomiting, Diarrhea, Weight loss |
ORPHA:30925 |
Immunodeficiency 60 And Autoimmunity |
|
Crohn's disease, Bronchiectasis, Ulcerative colitis, Colitis, Chronic diarrhea |
OMIM:618394 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Vomiting, Diarrhea, Weight loss, Cachexia, Failure to thrive, Feeding difficulties |
OMIM:612075 |
Peritoneal Cystic Mesothelioma |
|
Weight loss, Abdominal pain, Abdominal distention, Constipation, Peritonitis |
ORPHA:168816 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity |
OMIM:300928 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Tremor, Ataxia |
OMIM:300983 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Agitation |
ORPHA:100973 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Failure to thrive, Colonic eosinophilia, Atopic dermatitis, Memb... |
OMIM:618999 |
Focal Myositis |
|
Myositis, Weight loss |
ORPHA:48918 |
Budd-Chiari Syndrome |
|
Weight loss, Malabsorption, Abdominal pain, Cholecystitis, Intestinal obstruction, Gastrointestin... |
ORPHA:131 |
Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia |
OMIM:239500 |
Glycine Encephalopathy |
|
Impulsivity, Hyperactivity, Restlessness |
OMIM:605899 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity |
OMIM:301076 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Bloody diarrhea, Enterocolitis, Jejunal atresia, Interface hepatitis, Hematochezia, Intestinal ma... |
OMIM:243150 |
Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Athetosis, Dystonia, Ataxia |
ORPHA:382 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Hyperglycemia, Transient neonatal diabetes mellitus |
OMIM:601410 |
Benign Recurrent Intrahepatic Cholestasis |
|
Weight loss, Nausea and vomiting, Abdominal pain, Hepatocellular carcinoma, Acholic stools, Anore... |
ORPHA:65682 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity |
OMIM:619031 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Osteomyelitis, Weight loss, Poor appetite, Skin rash, Arthritis, Inflammation of the large intest... |
ORPHA:324964 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperinsulinemia, Polyphagia |
ORPHA:329249 |
Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
Immunodeficiency 58 |
|
Recurrent aphthous stomatitis, Chronic diarrhea, Bronchiectasis, Allergic rhinitis, Eczema, Cutan... |
OMIM:618131 |
Insulin Autoimmune Syndrome |
|
Arthralgia/arthritis, Weight loss |
ORPHA:411593 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Interstitial pneumonitis, Enterocolitis, Ulcerative colitis |
OMIM:614878 |
Juvenile Huntington Disease |
|
Gait ataxia, Hyperactivity, Ataxia, Progressive cerebellar ataxia, Dystonia, Broad-based gait |
ORPHA:248111 |
Amoebiasis Due To Entamoeba Histolytica |
|
Bloody diarrhea, Diarrhea, Weight loss, Abdominal pain, Protracted diarrhea, Constrictive pericar... |
ORPHA:67 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance |
OMIM:307500 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Recurrent sinusitis, Colitis |
OMIM:613101 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Conjunctivitis, Atrophic gastritis, Chronic diarrhea, Villous atrophy, Bronchiectasis, Erythema n... |
OMIM:614700 |
Immunodeficiency 40 |
|
Intermittent diarrhea, Chronic oral candidiasis, Interstitial pneumonitis, Recurrent otitis media... |
OMIM:616433 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphadenitis, Recurrent bacterial skin infections, Chronic oral candidiasis, Skin rash, Stomatit... |
ORPHA:911 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Crusting erythematous dermatitis, Cachexia, Eczema, Myositis, Abnormal intestine morphology, Gast... |
ORPHA:37042 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Esophageal stenosis, Colitis |
OMIM:615190 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Gastroesophageal reflux, Vomiting, Diarrhea, Weight loss, Small intestinal dysmotility, Abnormali... |
ORPHA:298 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Vomiting, High palate, Necrotizing enterocolitis, Abdominal pain, Feeding difficulties |
OMIM:616809 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Glycosuria, Athetosis, Type I diabetes mellitus, Hyperglycemia |
OMIM:618857 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Anorexia, Weight loss |
ORPHA:86893 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia, Ataxia |
OMIM:618970 |
Wolman Disease |
|
Hepatic failure, Nausea and vomiting, Cachexia, Steatorrhea, Abdominal distention, Malnutrition, ... |
ORPHA:75233 |
Yao Syndrome |
|
Diarrhea, Weight loss, Inflammatory abnormality of the skin, Skin rash, Arthritis, Keratoconjunct... |
OMIM:617321 |
X-Linked Agammaglobulinemia |
|
Conjunctivitis, Osteomyelitis, Weight loss, Malabsorption, Skin rash, Arthritis, Hepatitis, Failu... |
ORPHA:47 |
Cronkhite-Canada Syndrome |
|
Stomach cancer, Diarrhea, Malabsorption, Gastrointestinal carcinoma, Abdominal pain, Cachexia, In... |
ORPHA:2930 |
Central Diabetes Insipidus |
|
Diarrhea, Weight loss, Nausea and vomiting, Failure to thrive, Anorexia |
ORPHA:178029 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Intestinal perforation, Intermittent diarrhea, Colonic diverticula, Diarrhea, Weight loss, Vomiti... |
OMIM:603041 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Sacroiliac arthritis, Oligoarthritis, Hip osteoarthritis, Enthesitis, Inflammation of the large i... |
OMIM:106300 |
Attrv30M Amyloidosis |
|
Constipation, Diarrhea, Weight loss |
ORPHA:85447 |
Shigellosis |
|
Conjunctivitis, Intestinal perforation, Bloody diarrhea, Vomiting, Myocarditis, Bloody mucoid dia... |
ORPHA:810 |
Laryngotracheoesophageal Cleft Type 4 |
|
Tracheoesophageal fistula, Cachexia, Intestinal atresia |
ORPHA:93941 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Vomiting, Diarrhea, Malabsorption, Gastrointestinal carcinoma, Abdominal pain, Cachexia, Glossiti... |
OMIM:175500 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Duodenal ulcer, Malabsorption, Cachexia, Steatorrhea, Chronic diarrhea |
ORPHA:3217 |
Bullous Pemphigoid |
|
Psoriasiform dermatitis, Eczema, Weight loss |
ORPHA:703 |
Alexander Disease Type I |
|
Failure to thrive, Vomiting, Cachexia, Dysphagia |
ORPHA:363717 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Bronchiectasis, Recurrent pneumonia, Colitis, Chronic diarrhea, Failure to thrive in infancy |
OMIM:301220 |
Oculopharyngodistal Myopathy |
|
High palate, Weight loss, Recurrent aspiration pneumonia, Impaired oropharyngeal swallow response... |
ORPHA:98897 |
Liposarcoma |
|
Abdominal pain, Weight loss, Nausea and vomiting |
ORPHA:69078 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Gait ataxia, Hyperactivity, Inability to walk, Impulsivity, Dysphagia, Dystonia |
ORPHA:500180 |
Desmoplastic Small Round Cell Tumor |
|
Weight loss, Nausea and vomiting, Abdominal pain, Cachexia, Abdominal distention, Ileus |
ORPHA:83469 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Erythroderma, Weight loss, Poor appetite |
ORPHA:312 |
Diencephalic Syndrome |
|
Cachexia, Decreased body weight |
ORPHA:1672 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Diarrhea, Weight loss, Abdominal pain, Keratoconjunctivitis sicca, Steatorrhea, Abdominal distent... |
ORPHA:309031 |
Meconium Ileus |
|
Meconium ileus, Microcolon |
OMIM:614665 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Shuffling gait, Resting tremor, Tremor, Broad-based gait |
ORPHA:3077 |
Pleural Mesothelioma |
|
Weight loss, Dysphagia |
ORPHA:50251 |
Majeed Syndrome |
|
Osteomyelitis, Weight loss, Inflammatory abnormality of the skin, Malabsorption, Cachexia, Synovi... |
ORPHA:77297 |
Hodgkin Lymphoma |
|
Anorexia, Weight loss |
ORPHA:98293 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperglycemia, Hand tremor, Gait disturbance |
OMIM:604484 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:619927 |
Hyperlipoproteinemia, Type Id |
|
Failure to thrive, Recurrent pancreatitis, Pancreatitis, Colitis |
OMIM:615947 |
Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus, Unsteady gait |
OMIM:520000 |
Acute Myelomonocytic Leukemia |
|
Weight loss |
ORPHA:517 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Gait ataxia, Hyperactivity, Hyperinsulinemia, Limb dystonia, Insulin resistance, Ataxia, Tremor |
ORPHA:363400 |
Pyoderma Gangrenosum |
|
Myositis, Inflammation of the large intestine, Pustule, Rheumatoid arthritis |
ORPHA:48104 |
Acquired Hypertrichosis Lanuginosa |
|
Weight loss, Poor appetite, Glossitis, Macroglossia, Chronic diarrhea |
ORPHA:2221 |
Moynahan Syndrome |
|
Cachexia |
ORPHA:2574 |
Autoimmune Hepatitis |
|
Fulminant hepatitis, Arthritis, Sclerosing cholangitis, Abdominal pain, Hepatocellular carcinoma,... |
ORPHA:2137 |
Sapho Syndrome |
|
Chronic diarrhea, Osteomyelitis, Malabsorption, Enthesitis, Skin rash, Arthritis, Abdominal pain,... |
ORPHA:793 |
Refractory Celiac Disease |
|
Jejunitis, Villous atrophy, Weight loss, Malabsorption, Inflammatory abnormality of the skin, Abd... |
ORPHA:398063 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Vomiting, Weight loss |
OMIM:143880 |
Glucose-Galactose Malabsorption |
|
Vomiting, Diarrhea, Weight loss, Abdominal distention, Failure to thrive, Malnutrition, Hyperacti... |
ORPHA:35710 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancolitis, Inflammation of the large intestine, Esophageal stricture, Oral leukoplakia |
OMIM:620133 |
Pemphigus Vulgaris |
|
Feeding difficulties in infancy, Recurrent cutaneous abscess formation, Weight loss |
ORPHA:704 |
Cyclic Neutropenia |
|
Enterocolitis, Perianal abscess, Periodontitis, Abdominal pain, Sinusitis, Otitis media, Recurren... |
ORPHA:2686 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Lymphadenitis, Crohn's disease, Perianal abscess, Ulcerative colitis, Eczema, Anal fissure, Recur... |
OMIM:618935 |
Allergic Bronchopulmonary Aspergillosis |
|
Bronchiectasis, Weight loss |
ORPHA:1164 |
Rhabdoid Tumor |
|
Weight loss, Nausea and vomiting, Poor appetite, Neoplasm of the liver, Abdominal pain |
ORPHA:69077 |
Immunodeficiency 27A |
|
Diarrhea, Weight loss, Anorexia, Increased inflammatory response, Salmonella osteomyelitis, Pneum... |
OMIM:209950 |
Nephroblastoma |
|
Neoplasm of the liver, Abdominal pain, Weight loss |
ORPHA:654 |
Familial Pancreatic Carcinoma |
|
Intermittent diarrhea, Weight loss, Poor appetite, Nausea and vomiting, Neoplasm of the liver, Ab... |
ORPHA:1333 |
Spinocerebellar Ataxia 48 |
|
Cachexia, Dysphagia |
OMIM:618093 |
Reactive Arthritis |
|
Conjunctivitis, Recurrent aphthous stomatitis, Osteomyelitis, Diarrhea, Weight loss, Enthesitis, ... |
ORPHA:29207 |
Eosinophilic Fasciitis |
|
Myositis, Arthritis, Fasciitis, Weight loss |
ORPHA:3165 |
Immunodeficiency 97 With Autoinflammation |
|
Enterocolitis, Diarrhea, Abdominal pain, Eczema, Recurrent otitis media, Colitis, Recurrent skin ... |
OMIM:619802 |
Immunodeficiency 82 With Systemic Inflammation |
|
Diarrhea, Bronchiectasis, Bowel irritability, Gastritis, Colitis, Recurrent skin infections, Pneu... |
OMIM:619381 |
Inflammatory Pseudotumor Of The Liver |
|
Vomiting, Weight loss, Neoplasm of the liver, Abdominal pain, Abdominal distention, Nausea |
ORPHA:90003 |
Neuroendocrine Tumor Of The Rectum |
|
Bloody diarrhea, Weight loss, Abdominal pain, Hypoactive bowel sounds, Protracted diarrhea, Anore... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Bloody diarrhea, Weight loss, Abdominal pain, Hypoactive bowel sounds, Protracted diarrhea, Anore... |
ORPHA:100082 |
Acquired Central Diabetes Insipidus |
|
Weight loss |
ORPHA:95626 |
Zygomycosis |
|
Diarrhea, Fasciitis, Pericarditis, Gastritis, Colitis, Hematemesis, Unusual gastrointestinal infe... |
ORPHA:73263 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Gastroesophageal reflux, Morphological abnormality of the gastrointestinal tract, Vomiting, Achal... |
ORPHA:1018 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Postprandial hyperglycemia, Insulin-resist... |
OMIM:262190 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Bloody diarrhea, Skin rash, Failure to thrive, Colonic eosinophilia, Inflammation of the large in... |
OMIM:617718 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia |
OMIM:618858 |
Erythrokeratodermia Variabilis |
|
Skin rash, Weight loss |
ORPHA:317 |
Visceral Myopathy 1 |
|
Vomiting, Diarrhea, Megaduodenum, Aganglionic megacolon, Microcolon, Abdominal pain, Pancreatitis... |
OMIM:155310 |
Polyarteritis Nodosa |
|
Pericarditis, Abdominal pain, Weight loss, Abnormality of the gastrointestinal tract |
ORPHA:767 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Intestinal perforation, Bloody diarrhea, Vomiting, Diarrhea, Intussusception, Abdominal pain, Pan... |
ORPHA:90038 |
Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
Acrodermatitis Enteropathica |
|
Conjunctivitis, Weight loss, Poor appetite, Malabsorption, Glossitis, Failure to thrive, Anorexia... |
ORPHA:37 |
Cln5 Disease |
|
Hyperactivity, Inability to walk, Dysdiadochokinesis, Truncal ataxia, Ataxia, Dysmetria, Tremor, ... |
ORPHA:228360 |
Klatskin Tumor |
|
Abdominal pain, Cholangiocarcinoma, Weight loss |
ORPHA:99978 |
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Hyperactivity, Choreoathetosis, Inability to walk |
OMIM:620023 |
Neuroendocrine Tumor Of The Colon |
|
Bloody diarrhea, Weight loss, Abdominal pain, Hypoactive bowel sounds, Protracted diarrhea, Anore... |
ORPHA:100080 |
Takayasu Arteritis |
|
Weight loss, Arthritis, Inflammatory abnormality of the eye, Anorexia, Gastrointestinal infarctio... |
ORPHA:3287 |
Thymoma |
|
Neoplasm of the gastrointestinal tract, Weight loss, Rheumatoid arthritis, Ulcerative colitis, My... |
ORPHA:99867 |
Hermansky-Pudlak Syndrome 1 |
|
Inflammation of the large intestine, Abdominal pain, Hematochezia, Colitis |
OMIM:203300 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Feeding difficulties, Cachexia |
ORPHA:157973 |
Mu-Heavy Chain Disease |
|
Weight loss |
ORPHA:100024 |
Mast Cell Sarcoma |
|
Weight loss |
ORPHA:66661 |
Kaposi Sarcoma |
|
Skin rash, Diarrhea, Weight loss, Abnormality of the gastrointestinal tract |
ORPHA:33276 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Transient neonatal diabetes mellitus, Maternal diabetes |
OMIM:610582 |
Malignant Atrophic Papulosis |
|
Intestinal fistula, Intestinal perforation, Weight loss, Nausea and vomiting, Abdominal pain, Gas... |
ORPHA:679 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Vomiting, Osteomyelitis, Weight loss, Feeding difficulties in infancy, Pustule, Failure to thrive... |
ORPHA:171876 |
Holocarboxylase Synthetase Deficiency |
|
Keratoconjunctivitis, Weight loss, Nausea and vomiting, Eczema, Perioral eczema, Anorexia |
ORPHA:79242 |
Rat-Bite Fever |
|
Lymphadenitis, Septic arthritis, Endocarditis, Oligoarthritis, Vomiting, Diarrhea, Weight loss, M... |
ORPHA:31205 |
Medullary Thyroid Carcinoma |
|
Diarrhea, Weight loss, Dysphagia |
ORPHA:1332 |
Classic Hodgkin Lymphoma |
|
Skin rash, Anorexia, Weight loss, Poor appetite |
ORPHA:391 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Esophageal varix, Failure to thrive, Inflammation of the large intestine, Chronic diarrhea |
OMIM:614576 |
Anaplastic Thyroid Carcinoma |
|
Tracheoesophageal fistula, Weight loss, Dysphagia |
ORPHA:142 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Endocarditis, Gastroesophageal reflux, Tubulointerstitial nephritis, Weight loss, Nausea and vomi... |
ORPHA:183 |
Aggressive Systemic Mastocytosis |
|
Diarrhea, Weight loss, Malabsorption, Abdominal pain, Abdominal cramps, Anorexia, Gastrointestina... |
ORPHA:98850 |
Christianson Syndrome |
|
Gastroesophageal reflux, Cachexia, Feeding difficulties in infancy, Dysphagia |
ORPHA:85278 |
Nodular Non-Suppurative Panniculitis |
|
Weight loss, Nausea and vomiting, Abdominal pain, Inflammatory abnormality of the eye, Panniculitis |
ORPHA:33577 |
Follicular Lymphoma |
|
Weight loss |
ORPHA:545 |
Sepsis In Premature Infants |
|
Vomiting, Enterocolitis, Decreased body weight, Diarrhea, Small for gestational age, Functional a... |
ORPHA:90051 |
Ring Chromosome 10 Syndrome |
|
Aganglionic megacolon, Cachexia |
ORPHA:1438 |
Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Weight loss, Abdominal pain, Increased intestinal tra... |
OMIM:619377 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Hyperglycemia, Diabetes mellitus, Type I diabetes mellitus |
OMIM:606176 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Skin rash, Colitis, Erythroderma, Decreased liver function, Infectious encephalitis, Maculopapula... |
ORPHA:540 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Bloody diarrhea, Perianal abscess, Eosinophilic infiltration of the esophagus, Pancolitis, Failur... |
OMIM:618213 |
Igg4-Related Aortitis |
|
Abdominal pain, Increased inflammatory response, Intestinal obstruction, Weight loss |
ORPHA:449400 |
Perry Syndrome |
|
Weight loss |
ORPHA:178509 |
Fatal Familial Insomnia |
|
Constipation, Weight loss, Dysphagia |
OMIM:600072 |
Pancreatoblastoma |
|
Vomiting, Diarrhea, Weight loss, Abdominal pain, Abdominal distention |
ORPHA:677 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Tubulointerstitial nephritis, Gastroesophageal reflux, Intestinal perforation, Vomiting, Diarrhea... |
ORPHA:85450 |
Iga Pemphigus |
|
Cutaneous abscess, Pustule, Neutrophilic infiltration of the skin, Ulcerative colitis |
ORPHA:555905 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Tubulointerstitial nephritis, Myocarditis, Weight loss, Hepatitis, Skin rash, Thyroiditis, Inters... |
ORPHA:139402 |
X-Linked Creatine Transporter Deficiency |
|
Aganglionic megacolon, Cachexia, Constipation, Ileus |
ORPHA:52503 |
Idiopathic Bronchiectasis |
|
Cachexia, Bronchiectasis, Acute infectious pneumonia |
ORPHA:60033 |
Lynch Syndrome |
|
Weight loss, Nausea and vomiting, Malabsorption, Neoplasm of the rectum, Abdominal pain, Hepatoce... |
ORPHA:144 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Lymphadenitis, Chronic diarrhea, Abdominal pain, Eczema, Failure to thrive, Inflammation of the l... |
OMIM:615895 |
Neuroendocrine Tumor Of Stomach |
|
Episodic abdominal pain, Bloody diarrhea, Intermittent diarrhea, Hepatic failure, Bowel urgency, ... |
ORPHA:100075 |
Celiac Disease, Susceptibility To, 1 |
|
Recurrent aphthous stomatitis, Vomiting, Diarrhea, Weight loss, Abdominal pain, Thyroiditis, Ecze... |
OMIM:212750 |
Bone Dysplasia, Lethal Holmgren Type |
|
Failure to thrive, Diarrhea, Weight loss, Nausea and vomiting |
ORPHA:1842 |
Microsporidiosis |
|
Prostatitis, Cachexia, Myositis, Chronic diarrhea, Pneumonia, Lymphadenitis, Endocarditis, Interm... |
ORPHA:2552 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Aspiration pneumonia, Weight loss, Dysphagia |
ORPHA:216866 |
Wilson Disease |
|
Weight loss, Hepatitis, Arthritis, Failure to thrive, Acute hepatitis, Acute hepatic failure, Inc... |
ORPHA:905 |
Immunodeficiency 31C |
|
Recurrent vulvovaginal candidiasis, Osteomyelitis, Diarrhea, Villous atrophy, Weight loss, Intuss... |
OMIM:614162 |
Renpenning Syndrome |
|
Cleft palate, Cachexia, High, narrow palate, Anal atresia |
ORPHA:3242 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Neonatal hypoglycemia |
OMIM:617600 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Gastroesophageal reflux, Necrotizing enterocolitis, Episodic vomiting |
OMIM:201475 |
Tetrasomy 12P |
|
Abnormal soft palate morphology, Cachexia, Anal atresia |
ORPHA:884 |
Wild Type Attr Amyloidosis |
|
Intermittent diarrhea, Weight loss, Gastrointestinal dysmotility, Chronic diarrhea, Bowel inconti... |
ORPHA:330001 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Bronchiectasis, Diarrhea, Weight loss |
ORPHA:411703 |
Ileal Neuroendocrine Tumor |
|
Intestinal fistula, Episodic abdominal pain, Hepatic failure, Gastrointestinal obstruction, Inter... |
ORPHA:100078 |
Jejunal Neuroendocrine Tumor |
|
Intestinal fistula, Episodic abdominal pain, Hepatic failure, Gastrointestinal obstruction, Inter... |
ORPHA:100077 |
Riboflavin Transporter Deficiency |
|
Cachexia, Dysphagia |
ORPHA:97229 |
Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
Familial Colorectal Cancer Type X |
|
Stomach cancer, Weight loss, Nausea and vomiting, Malabsorption, Neoplasm of the rectum, Abdomina... |
ORPHA:440437 |
Felty Syndrome |
|
Rhinitis, Weight loss, Arthritis, Synovitis, Pericarditis, Recurrent pneumonia, Sinusitis, Episcl... |
ORPHA:47612 |
Gallbladder Neuroendocrine Tumor |
|
Episodic abdominal pain, Weight loss, Abdominal distention, Biliary tract neoplasm, Anorexia, Cho... |
ORPHA:100086 |
Systemic Capillary Leak Syndrome |
|
Diarrhea, Weight loss, Abdominal pain, Pericarditis, Myocarditis, Pancreatitis |
ORPHA:188 |
Polymyositis |
|
Gastroesophageal reflux, Weight loss, Arthritis, Abdominal pain, Pericarditis, Anorexia, Constipa... |
ORPHA:732 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Panniculitis, Weight loss |
ORPHA:86884 |
Kindler Epidermolysis Bullosa |
|
Conjunctivitis, Esophageal stricture, Dysphagia, Abnormality of the anus, Recurrent skin infectio... |
ORPHA:2908 |
Primary Intestinal Lymphangiectasia |
|
Increased stool alpha1-antitrypsin concentration, Weight loss, Abnormality of small intestinal vi... |
ORPHA:90362 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Huntington Disease |
|
Decreased body mass index, Weight loss, Oral-pharyngeal dysphagia |
ORPHA:399 |
Juvenile Polyposis Of Infancy |
|
Diarrhea, High, narrow palate, Intussusception, Abdominal pain, Cachexia, Hematochezia, Intestina... |
ORPHA:79076 |
Chronic Beryllium Disease |
|
Weight loss, Lymphocytic interstitial pneumonia |
ORPHA:133 |
Whipple Disease |
|
Diarrhea, Malabsorption, Arthritis, Abdominal pain, Cachexia, Uveitis, Pericarditis, Myositis, An... |
ORPHA:3452 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:609812 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia |
ORPHA:1389 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Gastroesophageal reflux, Cachexia, High palate |
OMIM:618186 |
Idiopathic Hypereosinophilic Syndrome |
|
Vomiting, Erythroderma, Chronic diarrhea, Inflammatory abnormality of the skin, Malabsorption, Fe... |
ORPHA:3260 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Gait ataxia, Hyperactivity, Dysdiadochokinesis, Impulsivity, Dysmetria, Dysphagia, Dystonia, Inte... |
OMIM:610217 |
Oromandibular Dystonia |
|
Weight loss, Dysphagia |
ORPHA:93958 |
Tropical Pancreatitis |
|
Chronic calcifying pancreatitis, Vomiting, Weight loss, Malnutrition, Nausea |
ORPHA:103918 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Weight loss |
OMIM:188580 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Feeding difficulties, Cachexia, Failure to thrive in infancy, Constipation |
OMIM:616801 |
Osteosarcoma |
|
Weight loss |
ORPHA:668 |
Leishmaniasis |
|
Anorexia, Rhinitis, Weight loss |
ORPHA:507 |
Ppoma |
|
Episodic abdominal pain, Diarrhea, Weight loss, Poor appetite, Nausea and vomiting, Hypoactive bo... |
ORPHA:97278 |
Graves Disease, Susceptibility To, 1 |
|
Weight loss |
OMIM:275000 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Atopic dermatitis, Weight loss, Abnormality of the gastrointestinal tract |
ORPHA:2902 |
Imerslund-Gräsbeck Syndrome |
|
Angular cheilitis, Vomiting, Weight loss, Poor appetite, Glossitis, Failure to thrive, Constipation |
ORPHA:35858 |
Mcdonough Syndrome |
|
Cachexia |
ORPHA:2471 |
Non-Functioning Paraganglioma |
|
Episodic abdominal pain, Nausea, Weight loss |
ORPHA:94080 |
Zollinger-Ellison Syndrome |
|
Peptic ulcer, Episodic abdominal pain, Duodenal ulcer, Weight loss, Diarrhea, Intestinal obstruct... |
ORPHA:913 |
Thymic Carcinoma |
|
Weight loss |
ORPHA:99868 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Enterocolitis, Diarrhea, Villous atrophy, Bronchiectasis, Hepatitis, Inflammatory abnormality of ... |
ORPHA:391487 |
Syndromic Diarrhea |
|
Bloody diarrhea, Dependency on intravenous nutrition, Villous atrophy, Small for gestational age,... |
ORPHA:84064 |
Infection-Related Hemolytic Uremic Syndrome |
|
Septic arthritis, Intestinal perforation, Bloody diarrhea, Vomiting, Diarrhea, Myocarditis, Intus... |
ORPHA:544482 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Enterocolitis, Diarrhea, Periodontitis, Thyroiditis, Hepatocellular carcinoma, Ulcerative colitis... |
ORPHA:79259 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Bronchiectasis, Inflammation of the large intestine, Absent uvula, Dysphagia, Rectovaginal fistul... |
OMIM:619708 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Chronic otitis media, Weight loss, Nausea and vomiting |
ORPHA:3226 |
Sweet Syndrome |
|
Oligoarthritis, Acne inversa, Myositis, Inflammation of the large intestine, Pustule, Predominant... |
ORPHA:3243 |
Glossopharyngeal Neuralgia |
|
Weight loss, Malnutrition, Odynophagia, Feeding difficulties, Oral-pharyngeal dysphagia |
ORPHA:221098 |
Rheumatoid Arthritis |
|
Weight loss, Rheumatoid arthritis |
OMIM:180300 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Intestinal malrotation, Microcolon, Hepatic failure |
OMIM:619431 |
Isolated Succinate-Coq Reductase Deficiency |
|
Feeding difficulties in infancy, Weight loss |
ORPHA:3208 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Weight loss |
OMIM:613239 |
Mody |
|
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, Neonatal hypoglycemia, H... |
ORPHA:552 |
Toxic Epidermal Necrolysis |
|
Conjunctivitis, Intestinal perforation, Weight loss, Nausea and vomiting, Malabsorption, Abdomina... |
ORPHA:537 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abdominal pain, Diarrhea, Weight loss |
ORPHA:54251 |
Late-Onset Isolated Acth Deficiency |
|
Diarrhea, Weight loss, Nausea and vomiting, Hepatitis, Abdominal pain, Failure to thrive, Celiac ... |
ORPHA:199299 |
Primary Sclerosing Cholangitis |
|
Neoplasm of the gallbladder, Weight loss, Hepatitis, Abdominal pain, Thyroiditis, Cholangiocarcin... |
ORPHA:171 |
Familial Gestational Hyperthyroidism |
|
Hyperactivity, Hand tremor, Agitation |
ORPHA:99819 |
Pneumocystosis |
|
Interstitial pneumonitis, Chronic oral candidiasis, Weight loss, Acute infectious pneumonia |
ORPHA:723 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Weight loss |
ORPHA:1979 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Bronchiectasis, Weight loss |
ORPHA:79127 |
Neuroblastoma, Susceptibility To, 1 |
|
Failure to thrive, Abdominal pain, Diarrhea, Weight loss |
OMIM:256700 |
Glucagonoma |
|
Episodic abdominal pain, Diarrhea, Weight loss, Poor appetite, Nausea and vomiting, Skin rash, Gl... |
ORPHA:97280 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Decreased liver function, Vomiting, Cachexia, Diarrhea |
ORPHA:42 |
Grfoma |
|
Episodic abdominal pain, Diarrhea, Weight loss, Poor appetite, Nausea and vomiting, Hypoactive bo... |
ORPHA:97261 |
Huntington Disease-Like 1 |
|
Weight loss |
ORPHA:157941 |
Somatostatinoma |
|
Episodic abdominal pain, Diarrhea, Weight loss, Poor appetite, Nausea and vomiting, Steatorrhea, ... |
ORPHA:97283 |
Cocaine Intoxication |
|
Tubulointerstitial nephritis, Intestinal perforation, Bloody diarrhea, Vomiting, Abdominal pain, ... |
ORPHA:90068 |
Gm1 Gangliosidosis |
|
Gastroesophageal reflux, Infectious encephalitis, Aspiration pneumonia, Weight loss, Gastrostomy ... |
ORPHA:354 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity, Hand tremor, Agitation |
ORPHA:424 |
Bronchial Neuroendocrine Tumor |
|
Hepatic failure, Weight loss, Poor appetite, Protracted diarrhea, Anorexia, Pneumonia, Bowel urgency |
ORPHA:97287 |
Lysosomal Acid Lipase Deficiency |
|
Hepatic failure, Vomiting, Diarrhea, Weight loss, Decreased liver function, Nausea and vomiting, ... |
ORPHA:275761 |
Congenital Factor Xiii Deficiency |
|
Inflammation of the large intestine, Hepatic failure |
ORPHA:331 |
Brucellosis |
|
Sacroiliac arthritis, Septic arthritis, Hip osteoarthritis, Pericarditis, Glomerulonephritis, Kne... |
ORPHA:1304 |
Lymphoid Interstitial Pneumonia |
|
Bronchiectasis, Weight loss, Rheumatoid arthritis, Skin rash, Keratoconjunctivitis sicca, Eczema,... |
ORPHA:79128 |
Plague |
|
Lymphadenitis, Endocarditis, Bloody diarrhea, Vomiting, Enterocolitis, Diarrhea, Erythema nodosum... |
ORPHA:707 |
Cryptogenic Organizing Pneumonia |
|
Anorexia, Weight loss |
ORPHA:1302 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Granulomatous cholangitis, Sclerosing cholangitis, Interface hepatitis, Ulcerative colitis, Infla... |
ORPHA:562639 |
Familial Renal Glucosuria |
|
Glycosuria, Abnormal oral glucose tolerance, Insulin resistance, Hyperglycemia |
ORPHA:69076 |
Pelizaeus-Merzbacher Disease |
|
Bowel incontinence, Cachexia, Failure to thrive in infancy |
ORPHA:702 |
Caroli Disease |
|
Vomiting, Weight loss, Abdominal rigidity, Abdominal pain, Cholangiocarcinoma, Cholangitis, Anore... |
ORPHA:53035 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Nasogastric tube feeding in infancy, Cachexia, Severe failure to thrive, Constipation, Feeding di... |
ORPHA:371364 |
Castleman Disease |
|
Weight loss, Abnormality of the gastrointestinal tract, Nausea and vomiting, Abdominal pain, Abdo... |
ORPHA:160 |
Behçet Disease |
|
Endocarditis, Recurrent aphthous stomatitis, Weight loss, Nausea and vomiting, Malabsorption, Art... |
ORPHA:117 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity |
ORPHA:85327 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Weight loss, Arthritis, Abdominal pain, Cholangiocarcinoma, Hepatocellular carcinoma, Chronic hep... |
ORPHA:465508 |
Autoimmune Lymphoproliferative Syndrome |
|
Neoplasm of the tongue, Recurrent aphthous stomatitis, Hepatitis, Arthritis, Thyroiditis, Hepatoc... |
ORPHA:3261 |
Stevens-Johnson Syndrome |
|
Conjunctivitis, Esophageal stricture, Diarrhea, Weight loss, Nausea and vomiting, Abdominal pain,... |
ORPHA:36426 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Hypoperistalsis, Nausea and vomiting, Abnormality of the gastrointestinal tract, Microcolon, Abdo... |
ORPHA:2241 |
Rett Syndrome |
|
Gastroesophageal reflux, Cachexia, Constipation |
OMIM:312750 |
Simple Cryoglobulinemia |
|
Weight loss, Abnormality of the gastrointestinal tract, Arthritis, Abdominal pain, Membranoprolif... |
ORPHA:91139 |
Pyomyositis |
|
Myositis, Recurrent cutaneous abscess formation, Weight loss |
ORPHA:764 |
Al Amyloidosis |
|
Weight loss, Abnormality of the gastrointestinal tract, Macroglossia, Abdominal distention, Abnor... |
ORPHA:85443 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Neoplasm of the liver, Constipation, Weight loss |
ORPHA:2126 |
Immunodeficiency 87 And Autoimmunity |
|
Hepatic failure, Atrophic gastritis, Villous atrophy, Small for gestational age, Necrotizing ente... |
OMIM:619573 |
Loeffler Endocarditis |
|
Pericarditis, Weight loss |
ORPHA:75566 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Episodic abdominal pain, Diarrhea, Weight loss, Neoplasm of the liver, Abdominal distention, Anor... |
ORPHA:100085 |
Familial Glucocorticoid Deficiency |
|
Episodic abdominal pain, Vomiting, Diarrhea, Weight loss, Failure to thrive, Anorexia, Constipation |
ORPHA:361 |
Acute Monoblastic/Monocytic Leukemia |
|
Anorexia, Weight loss |
ORPHA:514 |
Juvenile Dermatomyositis |
|
Weight loss, Skin rash, Arthritis, Abdominal pain, Pericarditis, Myositis, Constipation, Gastroin... |
ORPHA:93672 |
Giant Cell Arteritis |
|
Hepatic failure, Weight loss, Arthritis, Abdominal pain, Glossitis, Pericarditis, Anorexia, Gastr... |
ORPHA:397 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Cachexia |
ORPHA:1933 |
Flynn-Aird Syndrome |
|
Cachexia |
ORPHA:2047 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Oligoarthritis, Weight loss, Hip osteoarthritis, Enthesitis, Arthritis, Iridocyclitis, Synovitis,... |
ORPHA:85408 |
Glycogen Storage Disease Ib |
|
Hepatocellular carcinoma, Gout, Inflammation of the large intestine, Pancreatitis, Protuberant ab... |
OMIM:232220 |
Peripheral Primitive Neuroectodermal Tumor |
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Episodic abdominal pain, Weight loss, Nausea and vomiting, Abdominal distention, Anorexia, Pancre... |
ORPHA:370348 |
Vipoma |
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Episodic abdominal pain, Weight loss, Poor appetite, Malabsorption, Nausea and vomiting, Neoplasm... |
ORPHA:97282 |
Silver-Russell Syndrome |
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Gastroesophageal reflux, Cachexia, Constipation, Feeding difficulties, Obesity, Failure to thrive... |
ORPHA:813 |
Wiskott-Aldrich Syndrome |
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Conjunctivitis, Arthritis, Eczema, Inflammation of the large intestine, Sinusitis, Otitis media, ... |
ORPHA:906 |
Postinfectious Vasculitis |
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Bacterial endocarditis, Weight loss, Orchitis, Inflammatory abnormality of the skin, Arthritis, A... |
ORPHA:48435 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
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Cachexia |
ORPHA:2774 |
Sarcoidosis, Susceptibility To, 1 |
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Bronchiectasis, Weight loss, Iridocyclitis, Arthritis, Uveitis, Inflammation of the large intesti... |
OMIM:181000 |
Q Fever |
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Endocarditis, Myocarditis, Maculopapular exanthema, Osteomyelitis, Weight loss, Hepatitis, Perica... |
ORPHA:781 |
Granulomatosis With Polyangiitis |
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Conjunctivitis, Weight loss, Uveitis, Sinusitis, Episcleritis, Keratitis, Chronic otitis media |
OMIM:608710 |
Malt Lymphoma |
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Weight loss, Nausea and vomiting, Abdominal pain, Constipation, Posterior uveitis |
ORPHA:52417 |
Infantile Krabbe Disease |
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Gastroesophageal reflux, Nasogastric tube feeding in infancy, Vomiting, Cachexia, Failure to thri... |
ORPHA:206436 |
Aicardi-Goutieres Syndrome 9 |
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Weight loss, Chilblains, Pericarditis, Failure to thrive, Acute pancreatitis, Feeding difficulties |
OMIM:619487 |
Acute Promyelocytic Leukemia |
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Anorexia, Abdominal pain, Stomatitis, Weight loss |
ORPHA:520 |
Aicardi-Goutieres Syndrome 7 |
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Bloody diarrhea, Atrophic gastritis, Diarrhea, Weight loss, Hepatitis, Skin rash, Arthritis, Chil... |
OMIM:615846 |
Polycythemia Vera |
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Gastrointestinal hemorrhage, Abdominal pain, Weight loss |
ORPHA:729 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Peptic ulcer, Diarrhea, Weight loss, Abdominal pain, Nausea |
ORPHA:98849 |
Mednik Syndrome |
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Volvulus, Microcolon, Jejunal atresia, Diarrhea |
OMIM:609313 |
Glycogen Storage Disease Ic |
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Chronic pancreatitis, Hepatocellular carcinoma, Stomatitis, Hepatoblastoma, Gout, Inflammation of... |
OMIM:232240 |
Wiskott-Aldrich Syndrome |
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Diarrhea, Ulcerative colitis, Eczema, Recurrent sinusitis, Recurrent otitis media, Inflammation o... |
OMIM:301000 |
Granulomatosis With Polyangiitis |
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Prostatitis, Weight loss, Nausea and vomiting, Skin rash, Inflammatory abnormality of the eye, Ab... |
ORPHA:900 |
8P23.1 Microdeletion Syndrome |
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Obesity, High palate, Weight loss |
ORPHA:251071 |
Nocardiosis |
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Lymphadenitis, Endocarditis, Conjunctivitis, Vomiting, Osteomyelitis, Scleritis, Weight loss, Thy... |
ORPHA:31204 |
Short Syndrome |
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Weight loss, Poor appetite |
ORPHA:3163 |
Igg4-Related Retroperitoneal Fibrosis |
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Weight loss, Rheumatoid arthritis, Nausea and vomiting, Abdominal pain, Deep dermal perivascular ... |
ORPHA:49041 |
Beta-Ketothiolase Deficiency |
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Anorexia, Vomiting, Diarrhea, Weight loss |
ORPHA:134 |
Bannayan-Riley-Ruvalcaba Syndrome |
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Narrow palate, Abnormal large intestine morphology, Cachexia, Intestinal polyposis, Hashimoto thy... |
ORPHA:109 |
19Q13.11 Microdeletion Syndrome |
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Failure to thrive, Feeding difficulties, Cachexia |
ORPHA:217346 |
Juvenile Amyotrophic Lateral Sclerosis |
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Cachexia, Gastrostomy tube feeding in infancy, Dysphagia |
ORPHA:300605 |
Hermansky-Pudlak Syndrome |
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Weight loss, Malabsorption, Abdominal pain, Anorexia, Gastrointestinal hemorrhage |
ORPHA:79430 |
Riddle Syndrome |
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Diarrhea, Weight loss, Arthritis, Abdominal pain, Recurrent sinusitis, Chronic sinusitis, Recurre... |
ORPHA:420741 |
Insulin-Resistance Syndrome Type B |
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Decreased body weight, Weight loss, Skin rash, Abnormality of body weight, Nephritis, Abnormal sa... |
ORPHA:2298 |
Perry Syndrome |
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Weight loss |
OMIM:168605 |
X-Linked Lymphoproliferative Disease |
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Hepatic failure, Fulminant hepatitis, Nephritis, Inflammation of the large intestine, Colitis, De... |
ORPHA:2442 |
Diffuse Alveolar Hemorrhage |
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Weight loss |
ORPHA:90060 |
Hereditary Late-Onset Parkinson Disease |
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Chronic constipation, Weight loss, Dysphagia |
ORPHA:411602 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
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Episodic abdominal pain, Nausea, Weight loss |
ORPHA:276621 |
Chronic Graft Versus Host Disease |
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Gastroesophageal reflux, Esophageal stricture, Diarrhea, Weight loss, Esophageal ulceration, Bron... |
ORPHA:99921 |
Frontometaphyseal Dysplasia 2 |
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Gastroesophageal reflux, High palate, Feeding difficulties in infancy, Pyloric stenosis, Bifid uv... |
OMIM:617137 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
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Microcolon, Abdominal distention |
OMIM:619362 |
Aredyld Syndrome |
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Cachexia |
ORPHA:1133 |
Adrenocortical Carcinoma |
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Abdominal pain, Weight loss, Increased body weight |
ORPHA:1501 |
Hepatocellular Carcinoma |
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Diarrhea, Weight loss, Poor appetite, Abdominal pain, Abdominal distention, Anorexia, Esophageal ... |
ORPHA:88673 |
3-Hydroxy-3-Methylglutaric Aciduria |
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Diarrhea, Weight loss, Reye syndrome-like episodes, Episodic vomiting, Anorexia, Acute pancreatitis |
ORPHA:20 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
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Gastroparesis, Intestinal pseudo-obstruction, Weight loss, Dysphagia |
OMIM:607459 |
Addison Disease |
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Diarrhea, Weight loss, Nausea and vomiting, Abdominal pain, Failure to thrive, Celiac disease, An... |
ORPHA:85138 |
Thymic Neuroendocrine Tumor |
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Weight loss |
ORPHA:97289 |
Primary Myelofibrosis |
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Anorexia, Cachexia |
ORPHA:824 |
Parathyroid Carcinoma |
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Episodic abdominal pain, Peptic ulcer, Weight loss, Nausea and vomiting, Constipation, Dysphagia,... |
ORPHA:143 |
Cystic Echinococcosis |
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Abdominal symptom, Weight loss, Membranous nephropathy |
ORPHA:400 |
Acute Adrenal Insufficiency |
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Diarrhea, Weight loss, Nausea and vomiting, Abdominal pain, Failure to thrive, Anorexia, Constipa... |
ORPHA:95409 |
Renal Nutcracker Syndrome |
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Abdominal pain, Nausea, Weight loss |
ORPHA:71273 |
X-Linked Intellectual Disability, Cabezas Type |
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Cachexia, High palate, Obesity |
ORPHA:85293 |
Neurodegeneration With Brain Iron Accumulation 1 |
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Hyperactivity, Blepharospasm, Akinesia, Choreoathetosis, Gait disturbance, Ataxia, Tremor, Dyspha... |
OMIM:234200 |
Alveolar Echinococcosis |
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Vomiting, Weight loss, Abdominal pain, Cutaneous abscess, Cholangitis, Decreased liver function |
ORPHA:284 |
Fryns-Smeets-Thiry Syndrome |
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Cachexia |
ORPHA:2058 |
Chronic Thromboembolic Pulmonary Hypertension |
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Inflammation of the large intestine, Obesity, Osteomyelitis |
ORPHA:70591 |
Gerstmann-Straussler Disease |
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Weight loss |
OMIM:137440 |
Igg4-Related Kidney Disease |
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Lymphadenitis, Tubulointerstitial nephritis, Prostatitis, Weight loss, Inflammatory abnormality o... |
ORPHA:449395 |
Congenital Fiber-Type Disproportion Myopathy |
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Nasogastric tube feeding in infancy, High palate, Aspiration pneumonia, Weight loss, Poor appetit... |
ORPHA:2020 |
Hereditary Pheochromocytoma-Paraganglioma |
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Episodic abdominal pain, Nausea, Weight loss |
ORPHA:29072 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
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Short hard palate, Cachexia, Anorexia |
ORPHA:1969 |
Microcephaly 29, Primary, Autosomal Recessive |
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Hyperactivity, Ataxia |
OMIM:620047 |
Erdheim-Chester Disease |
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Osteomyelitis, Weight loss, Nausea and vomiting, Skin rash, Abdominal pain |
ORPHA:35687 |
Nijmegen Breakage Syndrome |
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Anorectal anomaly, Cachexia, Anal atresia, Recurrent pneumonia, Chronic diarrhea, Cleft palate, A... |
ORPHA:647 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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High palate, High, narrow palate, Thyroiditis, Recurrent otitis media, Celiac disease, Inflammati... |
ORPHA:99413 |
Turner Syndrome |
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High palate, High, narrow palate, Thyroiditis, Recurrent otitis media, Celiac disease, Inflammati... |
ORPHA:881 |
Mosaic Monosomy X |
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High palate, High, narrow palate, Thyroiditis, Recurrent otitis media, Celiac disease, Inflammati... |
ORPHA:99228 |
Monosomy X |
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High palate, High, narrow palate, Thyroiditis, Recurrent otitis media, Celiac disease, Inflammati... |
ORPHA:99226 |
Multiple Endocrine Neoplasia Type 1 |
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Peptic ulcer, Gastroesophageal reflux, Vomiting, Duodenal ulcer, Weight loss, Diarrhea, Abdominal... |
ORPHA:652 |
Igg4-Related Dacryoadenitis And Sialadenitis |
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Tubulointerstitial nephritis, Weight loss, Thyroiditis, Keratoconjunctivitis sicca, Myositis, Abn... |
ORPHA:79078 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
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Microcolon, Pyelonephritis, Abdominal distention, Ileal atresia, Peritonitis |
OMIM:619351 |
Trisomy 18 |
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Narrow palate, Esophageal atresia, Cachexia, Anal atresia, Cleft palate |
ORPHA:3380 |
Autoimmune Pulmonary Alveolar Proteinosis |
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Weight loss |
ORPHA:747 |
Fanconi Anemia |
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High palate, Weight loss, Aganglionic megacolon, Anal atresia, Duodenal stenosis, Tracheoesophage... |
ORPHA:84 |
Multiple Myeloma |
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Functional abnormality of the gastrointestinal tract, Weight loss |
ORPHA:29073 |
Poems Syndrome |
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Weight loss |
ORPHA:2905 |
Oculopharyngodistal Myopathy 1 |
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High palate, Weight loss, Dysphagia |
OMIM:164310 |
Xfe Progeroid Syndrome |
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Failure to thrive, Cachexia |
OMIM:610965 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
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Skin rash, Cachexia |
ORPHA:220295 |
Thyrotoxic Periodic Paralysis |
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Obesity, Constipation, Weight loss |
ORPHA:79102 |
Kikuchi-Fujimoto Disease |
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Malar rash, Myocarditis, Weight loss, Abnormality of the gastrointestinal tract, Skin rash, Anore... |
ORPHA:50918 |
Familial Thrombocytosis |
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Weight loss |
ORPHA:71493 |
Dermatomyositis |
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Weight loss, Arthritis, Feeding difficulties in infancy, Pericarditis, Gastrointestinal stroma tu... |
ORPHA:221 |
Mucolipidosis Type Ii |
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Gastrostomy tube feeding in infancy, Otitis media, Weight loss, Protuberant abdomen |
ORPHA:576 |
Anemia, Congenital Dyserythropoietic, Type Iv |
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Weight loss |
OMIM:613673 |
Cystinosis, Nephropathic |
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Weight loss, Dysphagia, Exocrine pancreatic insufficiency, Failure to thrive in infancy, Oral-pha... |
OMIM:219800 |
Schwartz-Jampel Syndrome |
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High palate, Decreased body weight, Feeding difficulties in infancy, Cachexia, Cleft palate |
ORPHA:800 |
Mowat-Wilson Syndrome |
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Vomiting, Decreased body weight, Enterocolitis, Dependency on intravenous nutrition, Aganglionic ... |
ORPHA:2152 |
Isolated Permanent Neonatal Diabetes Mellitus |
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Failure to thrive, Weight loss |
ORPHA:99885 |
Stickler Syndrome |
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Gastroesophageal reflux, Feeding difficulties in infancy, Cachexia, Macroglossia, Uveitis, Chroni... |
ORPHA:828 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Tubulointerstitial nephritis, Scleritis, Weight loss, Skin rash, Abdominal pain, Nongranulomatous... |
ORPHA:91500 |
Seckel Syndrome |
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Cachexia |
ORPHA:808 |
Sarcoidosis |
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Tubulointerstitial nephritis, Maculopapular exanthema, Hepatic failure, Bronchiectasis, Weight lo... |
ORPHA:797 |
Tsh-Secreting Pituitary Adenoma |
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Vomiting, Weight loss, Nausea and vomiting |
ORPHA:91347 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Bacterial endocarditis, Cachexia, Esophageal varix, Feeding difficulties, Gastric ulcer |
ORPHA:2072 |
Pulmonary Alveolar Microlithiasis |
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Bronchiectasis, Weight loss |
ORPHA:60025 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Recurrent cutaneous fungal infections, Malignant gastrointestinal tract tumors, Neoplasm of the s... |
ORPHA:99889 |
African Trypanosomiasis |
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Conjunctivitis, Vomiting, Myelitis, Diarrhea, Weight loss, Iritis, Pericarditis, Optic neuritis, ... |
ORPHA:3385 |
Marfan Syndrome |
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Cachexia, Slender build, Cleft palate, High, narrow palate, Arthralgia/arthritis |
ORPHA:558 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
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Vomiting, Weight loss, Failure to thrive, Feeding difficulties, Acne |
ORPHA:90794 |
Cockayne Syndrome |
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Gastroesophageal reflux, Malar rash, Gastrostomy tube feeding in infancy, Feeding difficulties in... |
ORPHA:191 |
Hutchinson-Gilford Progeria Syndrome |
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High palate, Weight loss, Ankyloglossia, Severe failure to thrive, Osteoarthritis |
ORPHA:740 |
Camurati-Engelmann Disease |
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Slender build, Feeding difficulties in infancy, Cachexia, Anorexia |
ORPHA:1328 |
Choreoacanthocytosis |
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Arthritis, Protruding tongue, Weight loss, Dysphagia |
ORPHA:2388 |
Primary Fanconi Renotubular Syndrome |
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Weight loss |
ORPHA:3337 |
Goodpasture Syndrome |
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Glomerulonephritis, Weight loss |
OMIM:233450 |
Proteus Syndrome |
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Cachexia |
ORPHA:744 |
Tropical Endomyocardial Fibrosis |
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Malnutrition, Cachexia |
ORPHA:75565 |
Norrie Disease |
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Failure to thrive, Cachexia |
ORPHA:649 |