| Inflammatory Bowel Disease 29 |
|
Crohn's disease, Ulcerative colitis |
OMIM:618077 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Inflammatory Bowel Disease 3 |
|
Ulcerative colitis |
OMIM:604519 |
| Inflammatory Bowel Disease 21 |
|
Ulcerative colitis |
OMIM:612354 |
| Inflammatory Bowel Disease 13 |
|
Inflammation of the large intestine |
OMIM:612244 |
| Inflammatory Bowel Disease (Crohn Disease) 19 |
|
Inflammation of the large intestine |
OMIM:612278 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Inflammatory Bowel Disease 11 |
|
Inflammation of the large intestine, Weight loss, Diarrhea, Abdominal pain, Hematochezia |
OMIM:191390 |
| Mental Retardation, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617600 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Mental Retardation, Autosomal Recessive 2 |
|
Attention deficit hyperactivity disorder |
OMIM:607417 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Inflammation of the large intestine, Weight loss, Intestinal obstruction, Crohn's disease, Recurr... |
OMIM:266600 |
| Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
| Mental Retardation, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
| Hyperlipoproteinemia, Type Id |
|
Failure to thrive, Colitis |
OMIM:615947 |
| Carcinoma Of Esophagus |
|
Dysphagia, Abnormal intestine morphology, Esophageal neoplasm, Weight loss, Barrett esophagus, Ob... |
ORPHA:70482 |
| Diarrhea 8, Secretory Sodium, Congenital |
|
Secretory diarrhea, Abdominal distention, Inflammation of the large intestine, Elevated fecal sodium |
OMIM:616868 |
| Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
| Microcephaly 25, Primary, Autosomal Recessive |
|
Attention deficit hyperactivity disorder |
OMIM:618351 |
| Colonic Varices Without Portal Hypertension |
|
Intestinal bleeding, Colonic varices |
OMIM:120440 |
| Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder |
OMIM:618830 |
| Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Vomiting, Abdominal distention, Abnormality of enteric ganglion morphology... |
OMIM:142623 |
| Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Folliculitis, Pyoderma, Perianal abscess, Crohn's disease, Enterocolitis, Colitis, Hematochezia |
OMIM:613148 |
| Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Bloody diarrhea, Abnormal intestine morphology, Vomiting, Esophagitis, Duodenitis, Chronic diarrh... |
OMIM:619079 |
| Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Bloody diarrhea, Ulcerative colitis |
OMIM:619398 |
| Enterocolitis |
|
Abdominal distention, Ulcerative colitis, Hematochezia, Enterocolitis |
OMIM:226150 |
| Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Folliculitis, Rectovaginal fistula, Perianal abscess, Enterocutaneous fistula, Enterocolitis |
OMIM:612567 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Nausea and vomiting, Dysphagia, Abnormal esophagus physiology, Esophageal neoplasm, Abnormal larg... |
ORPHA:2198 |
| Ficolin 3 Deficiency |
|
Necrotizing enterocolitis |
OMIM:613860 |
| Idiopathic Achalasia |
|
Dysphagia, Recurrent aspiration pneumonia, Weight loss, Malnutrition, Gastroesophageal reflux |
ORPHA:930 |
| Diverticulosis, Small-Intestinal |
|
Duodenal diverticula, Jejunal diverticula, Rheumatoid arthritis, Thyroiditis, Jejunoileal diverti... |
OMIM:223320 |
| Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia |
OMIM:617113 |
| Mantle Cell Lymphoma |
|
Weight loss, Anorexia, Abnormality of the gastrointestinal tract |
ORPHA:52416 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Colitis |
ORPHA:88643 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Colitis, Perioral eczema, Recurrent aphthous stomatitis, Diarrhea, Recurrent sinusitis |
OMIM:613960 |
| 5-Oxoprolinase Deficiency |
|
Diarrhea, Abdominal pain, Vomiting, Enterocolitis |
OMIM:260005 |
| Cap Polyposis |
|
Colorectal polyposis, Atrophic gastritis, Abdominal distention, Weight loss, Hematochezia, Diarrh... |
ORPHA:160148 |
| Pseudomyxoma Peritonei |
|
Nausea and vomiting, Inflammation of the large intestine, Weight loss, Intestinal obstruction, Ab... |
ORPHA:26790 |
| Visceral Myopathy 2 |
|
Dysphagia, Rectal prolapse, Megaduodenum, Intestinal pseudo-obstruction, Volvulus, Esophagitis, G... |
OMIM:619350 |
| Mental Retardation, Autosomal Dominant 52 |
|
Hyperactivity |
OMIM:617796 |
| Pulmonary Blastoma |
|
Weight loss, Recurrent pneumonia |
ORPHA:64741 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Cachexia, Gastrointestinal dysmotility, Abdominal distention, Slender build, Weight loss, Malabso... |
OMIM:613662 |
| Hirschsprung Disease |
|
Nausea and vomiting, Failure to thrive in infancy, Aganglionic megacolon, Functional abnormality ... |
ORPHA:388 |
| Mental Retardation, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
| Immunodeficiency, Common Variable, 11 |
|
Failure to thrive, Crohn's disease, Inflammation of the large intestine, Mucoid diarrhea |
OMIM:615767 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Cleft palate, Feeding difficulties, Nasogastric tube feeding in infancy, Microglossia, Gastrostom... |
ORPHA:141152 |
| Mental Retardation, Autosomal Recessive 37 |
|
Hyperactivity |
OMIM:615493 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:600496 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Gait disturbance, Dysmetria, Tremor, Hyperactivity, Inability to walk |
OMIM:618090 |
| Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Hyperactivity, Inability to walk |
OMIM:616657 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity |
ORPHA:356996 |
| Tuberculosis |
|
Weight loss |
ORPHA:3389 |
| Secondary Short Bowel Syndrome |
|
Aganglionic megacolon, Villous atrophy, Abnormality of the small intestine, Vomiting, Failure to ... |
ORPHA:95427 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
| Gastroesophageal Reflux |
|
Barrett esophagus, Gastroesophageal reflux, Esophagitis, Esophageal neoplasm |
OMIM:109350 |
| Immunodeficiency 37 |
|
Colitis, Infectious encephalitis |
OMIM:616098 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
| Esophagitis, Eosinophilic, 1 |
|
Failure to thrive, Dysphagia, Esophagitis, Vomiting |
OMIM:610247 |
| Esophagitis, Eosinophilic, 2 |
|
Failure to thrive, Dysphagia, Esophagitis, Vomiting |
OMIM:613412 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Colitis, Minimal change glomerulonephritis |
OMIM:617006 |
| Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Hyperactivity |
OMIM:617169 |
| Epidermolysis Bullosa Acquisita |
|
Inflammation of the large intestine, Abdominal pain |
ORPHA:46487 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Inflammation of the large intestine, Folliculitis, Hepatitis, Acne, Recurrent skin infections, Co... |
OMIM:300635 |
| Immunodeficiency 57 With Autoinflammation |
|
Inflammation of the large intestine, Bronchiectasis, Failure to thrive, Gastritis, Perianal absce... |
OMIM:618108 |
| Mental Retardation, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Ménétrier Disease |
|
Anorexia, Stomach cancer, Abnormal gastric mucosa morphology, Vomiting, Helicobacter pylori infec... |
ORPHA:2494 |
| Undifferentiated Pleomorphic Sarcoma |
|
Weight loss, Anorexia |
ORPHA:2023 |
| Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
| Trichohepatoenteric Syndrome 2 |
|
Villous atrophy, Small for gestational age, Colitis, Failure to thrive, Hepatitis, Diarrhea |
OMIM:614602 |
| Pfapa Syndrome |
|
Nausea and vomiting, Infectious encephalitis, Weight loss, Malabsorption, Arthritis, Abdominal pain |
ORPHA:42642 |
| Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
| Smith-Magenis syndrome |
|
Hyperactivity |
DECIPHER:8 |
| Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia |
OMIM:613402 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Feeding difficulties, Cachexia, Weight loss |
OMIM:612075 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Dystonia, Ataxia, Tremor |
OMIM:615924 |
| Immunodeficiency 76 |
|
Chronic diarrhea, Colitis, Recurrent pneumonia |
OMIM:619164 |
| Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
|
Eczema, Inflammation of the large intestine, Dysphagia, Colitis, Failure to thrive, Arthritis, Ch... |
OMIM:608809 |
| Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity |
OMIM:608747 |
| Autoinflammatory Syndrome, Familial, Behcet-Like |
|
Ileal ulcer, Colitis, Skin rash, Anterior uveitis |
OMIM:616744 |
| Multicentric Reticulohistiocytosis |
|
Cachexia, Arthritis |
ORPHA:139436 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Weight loss, Abdominal distention, Diarrhea, Protein-losing enteropathy, Hematochezia |
ORPHA:103910 |
| Congenital Tufting Enteropathy |
|
Villous atrophy, Vomiting, Failure to thrive, Abdominal distention, Weight loss, Arthritis, Malab... |
ORPHA:92050 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Attention deficit hyperactivity disorder... |
ORPHA:35878 |
| Malignant Peritoneal Mesothelioma |
|
Peritonitis, Weight loss, Abdominal distention, Ileus, Abdominal pain |
ORPHA:168811 |
| Oculogastrointestinal Muscular Dystrophy |
|
Cachexia, Abnormal gastric mucosa morphology, Intestinal pseudo-obstruction, Abdominal distention... |
ORPHA:1876 |
| Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
| Chronic Hiccup |
|
Malnutrition, Weight loss |
ORPHA:396 |
| Laryngeal Neuroendocrine Tumor |
|
Oral-pharyngeal dysphagia, Weight loss, Anorexia |
ORPHA:100083 |
| Linear Iga Dermatosis |
|
Inflammation of the large intestine |
ORPHA:46488 |
| Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Atopic dermatitis, Lactose intolerance, Feeding difficulties in infancy, Allergic rhinitis, Dysph... |
ORPHA:411696 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Inflammation of the large intestine, Chronic diarrhea, Recurrent pneumonia, Colitis, Recurrent si... |
OMIM:619281 |
| Reticular Dysgenesis |
|
Chronic otitis media, Failure to thrive, Weight loss, Malabsorption, Skin rash, Diarrhea |
ORPHA:33355 |
| Eosinophilic Gastroenteritis |
|
Atopic dermatitis, Dysphagia, Allergic rhinitis, Vomiting, Weight loss, Malabsorption, Steatorrhe... |
ORPHA:2070 |
| Immunodeficiency 70 |
|
Celiac disease, Achalasia, Furuncle, Colitis, Recurrent sinusitis |
OMIM:618969 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Cystic acne, Sterile arthritis, Acne, Arthritis, Colitis |
OMIM:604416 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Cholangitis, Infectious encephalitis, Villous atrophy, Protracted diarrhea, Failure to thrive, Ma... |
OMIM:209920 |
| Solitary Rectal Ulcer Syndrome |
|
Bloody mucoid diarrhea, Bloody diarrhea, Rectal prolapse, Tenesmus, Stercoral ulcer, Intermittent... |
ORPHA:209964 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Cachexia, Vomiting, Gastrointestinal dysmotility, Weight loss, Intestinal perforation, Slender bu... |
OMIM:603041 |
| Carney-Stratakis Syndrome |
|
Dysphagia, Gastrointestinal stroma tumor, Weight loss, Intestinal obstruction, Gastrointestinal h... |
ORPHA:97286 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
| Hereditary Central Diabetes Insipidus |
|
Weight loss, Diarrhea, Vomiting |
ORPHA:30925 |
| Immunodeficiency 60 And Autoimmunity |
|
Bronchiectasis, Chronic diarrhea, Crohn's disease, Colitis, Ulcerative colitis |
OMIM:618394 |
| Galactose Epimerase Deficiency |
|
Nausea and vomiting, Weight loss, Feeding difficulties |
ORPHA:79238 |
| Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia, Ataxia |
OMIM:618970 |
| Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
| Autoinflammation With Infantile Enterocolitis |
|
Feeding difficulties in infancy, Villous atrophy, Failure to thrive, Skin rash, Enterocolitis, Se... |
OMIM:616050 |
| Aminoacylase 1 Deficiency |
|
Hyperactivity |
OMIM:609924 |
| Peritoneal Cystic Mesothelioma |
|
Peritonitis, Weight loss, Abdominal distention, Abdominal pain, Constipation |
ORPHA:168816 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Tremor, Hyperactivity, Ataxia |
OMIM:300983 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Tremor, Hyperactivity, Broad-based gait |
OMIM:619470 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity |
OMIM:300928 |
| Inflammatory Pseudotumor Of The Liver |
|
Vomiting, Nausea, Abdominal distention, Weight loss, Neoplasm of the liver, Abdominal pain |
ORPHA:90003 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Atopic dermatitis, Failure to thrive, Membranous nephropathy, Colonic eosinophilia, Eosinophilic ... |
OMIM:618999 |
| Focal Myositis |
|
Weight loss, Myositis |
ORPHA:48918 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Dystonia, Ataxia, Tremor |
OMIM:612716 |
| Budd-Chiari Syndrome |
|
Gastrointestinal infarctions, Esophageal varix, Peritonitis, Weight loss, Malabsorption, Intestin... |
ORPHA:131 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity |
OMIM:619031 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hyperactivity |
ORPHA:85288 |
| Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Inflammation of the large intestine, Weight loss, Acne, Arthritis, Palmo... |
ORPHA:324964 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Hyperglycemia, Transient neonatal diabetes mellitus |
OMIM:601410 |
| Isaac Syndrome |
|
Weight loss |
ORPHA:84142 |
| 8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
| Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia |
OMIM:239500 |
| Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
| Juvenile Huntington Disease |
|
Dystonia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Ataxia, Broad-based gait, G... |
ORPHA:248111 |
| Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hyperactivity |
OMIM:604317 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Constrictive pericarditis, Bloody diarrhea, Protracted diarrhea, Gastrointestinal dysmotility, Ac... |
ORPHA:67 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Failure to thrive, Inflammation of the large intestine |
OMIM:617718 |
| Microcolon |
|
Microcolon |
OMIM:251400 |
| Immunodeficiency 58 |
|
Eczema, Allergic rhinitis, Dysphagia, Helicobacter pylori infection, Recurrent cutaneous abscess ... |
OMIM:618131 |
| Insulin Autoimmune Syndrome |
|
Arthralgia/arthritis, Weight loss |
ORPHA:411593 |
| Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Colitis, Recurrent sinusitis |
OMIM:613101 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Dysphagia, Cachexia, Vomiting, Nausea, Gastrointestinal dysmotility, Abdominal distention, Weight... |
ORPHA:298 |
| Morm Syndrome |
|
Hyperactivity |
ORPHA:75858 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance |
OMIM:307500 |
| Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity |
OMIM:248510 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Nausea and vomiting, Anorexia, Hepatocellular carcinoma, Weight loss, Pancreatitis, Chronic diarr... |
ORPHA:65682 |
| Glycine Encephalopathy |
|
Hyperactivity, Lethargy |
OMIM:605899 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent infection of the gastrointestinal tract, Pneumonia, Stomatitis, Lymphadenitis, Failure ... |
ORPHA:911 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Inflammation of the large intestine, Villous atrophy, Pneumonia, Bronchiectasis, Failure to thriv... |
OMIM:614700 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Eczema, Abnormal intestine morphology, Tubulointerstitial nephritis, Hepatitis, Gastritis, Inflam... |
ORPHA:37042 |
| Yao Syndrome |
|
Keratoconjunctivitis sicca, Inflammatory abnormality of the skin, Pericarditis, Xerostomia, Weigh... |
OMIM:617321 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Weight loss, Anorexia |
ORPHA:86893 |
| X-Linked Agammaglobulinemia |
|
Sinusitis, Recurrent cutaneous abscess formation, Chronic otitis media, Failure to thrive, Weight... |
ORPHA:47 |
| Wolman Disease |
|
Nausea and vomiting, Cachexia, Esophageal varix, Abdominal distention, Steatorrhea, Hepatic failu... |
ORPHA:75233 |
| Cronkhite-Canada Syndrome |
|
Cachexia, Anorexia, Stomach cancer, Gastrointestinal carcinoma, Furrowed tongue, Malabsorption, H... |
ORPHA:2930 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Colitis, Esophageal stenosis |
OMIM:615190 |
| Central Diabetes Insipidus |
|
Nausea and vomiting, Anorexia, Failure to thrive, Weight loss, Diarrhea |
ORPHA:178029 |
| Shigellosis |
|
Myocarditis, Bloody mucoid diarrhea, Bloody diarrhea, Tenesmus, Ulcerative colitis, Vomiting, Pne... |
ORPHA:810 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Cachexia, Intestinal atresia, Tracheoesophageal fistula |
ORPHA:93941 |
| Diabetes And Deafness, Maternally Inherited |
|
Unsteady gait, Type II diabetes mellitus, Hyperglycemia |
OMIM:520000 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity |
OMIM:309548 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Hyperactivity, Lethargy |
OMIM:274270 |
| Fraxe Intellectual Disability |
|
Hyperactivity |
ORPHA:100973 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Anorexia, Vomiting, Xerostomia, Gastrointestinal carcinoma, Malabsorption, Hamartomatou... |
OMIM:175500 |
| Attrv30M Amyloidosis |
|
Weight loss, Diarrhea, Constipation |
ORPHA:85447 |
| Oculopharyngodistal Myopathy |
|
High, narrow palate, High palate, Recurrent aspiration pneumonia, Weight loss, Impaired oropharyn... |
ORPHA:98897 |
| Bullous Pemphigoid |
|
Psoriasiform dermatitis, Eczema, Weight loss |
ORPHA:703 |
| Liposarcoma |
|
Nausea and vomiting, Weight loss, Abdominal pain |
ORPHA:69078 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Athetosis, Glycosuria, Hyperglycemia, Type I diabetes mellitus |
OMIM:618857 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity |
OMIM:615541 |
| Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Duodenal ulcer, Cachexia, Malabsorption, Chronic diarrhea, Steatorrhea |
ORPHA:3217 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Keratoconjunctivitis sicca, Colitis, Abdominal distention, Weight loss, Steatorrhea, Exocrine pan... |
ORPHA:309031 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Shuffling gait, Tremor, Hyperactivity, Resting tremor, Broad-based gait |
ORPHA:3077 |
| Desmoplastic Small Round Cell Tumor |
|
Nausea and vomiting, Cachexia, Abdominal distention, Weight loss, Ileus, Abdominal pain |
ORPHA:83469 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss, Erythroderma, Poor appetite |
ORPHA:312 |
| Meconium Ileus |
|
Meconium ileus, Microcolon |
OMIM:614665 |
| Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Tr... |
ORPHA:99886 |
| Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Failure to thrive in infancy, Bronchiectasis, Chronic diarrhea, Recurrent pneumonia, Colitis |
OMIM:301220 |
| Diencephalic Syndrome |
|
Cachexia, Decreased body weight |
ORPHA:1672 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Hyperactivity |
OMIM:300434 |
| Spondyloarthropathy, Susceptibility To, 1 |
|
Psoriasiform dermatitis, Inflammation of the large intestine, Hip osteoarthritis, Oligoarthritis,... |
OMIM:106300 |
| Mental Retardation, Autosomal Dominant 43 |
|
Hyperactivity |
OMIM:616977 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Insulin resistance, Tremor, Hyperactivity, Ataxia, Gait ataxia, Hyperinsulinemia, Limb dystonia |
ORPHA:363400 |
| Majeed Syndrome |
|
Inflammatory abnormality of the skin, Abnormal inflammatory response, Cachexia, Pustule, Synoviti... |
ORPHA:77297 |
| Hodgkin Lymphoma |
|
Weight loss, Anorexia |
ORPHA:98293 |
| Pleural Mesothelioma |
|
Weight loss, Dysphagia |
ORPHA:50251 |
| Acute Myelomonocytic Leukemia |
|
Weight loss |
ORPHA:517 |
| Pyoderma Gangrenosum |
|
Inflammation of the large intestine, Pustule, Rheumatoid arthritis, Myositis |
ORPHA:48104 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Ketotic hypoglycemia, Postprandial hyperglycemia, Glycosuria, Lethargy |
ORPHA:2089 |
| Xq25 Microduplication Syndrome |
|
Hyperactivity |
ORPHA:521258 |
| Chromosome Xq25 Duplication Syndrome |
|
Hyperactivity |
OMIM:300979 |
| Autoimmune Hepatitis |
|
Inflammation of the large intestine, Hepatocellular carcinoma, Sclerosing cholangitis, Fulminant ... |
ORPHA:2137 |
| Coffin-Siris Syndrome 8 |
|
Hyperactivity |
OMIM:618362 |
| Moynahan Syndrome |
|
Cachexia |
ORPHA:2574 |
| Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Gait ataxia |
OMIM:609425 |
| Hyperlysinemia, Type I |
|
Hyperactivity |
OMIM:238700 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Tremor, Hyperactivity, Inability to walk |
OMIM:618718 |
| Acquired Hypertrichosis Lanuginosa |
|
Macroglossia, Weight loss, Chronic diarrhea, Poor appetite, Glossitis |
ORPHA:2221 |
| Glucose-Galactose Malabsorption |
|
Vomiting, Failure to thrive, Abdominal distention, Weight loss, Hyperactive bowel sounds, Malnutr... |
ORPHA:35710 |
| Refractory Celiac Disease |
|
Inflammatory abnormality of the skin, Jejunitis, Villous atrophy, Weight loss, Malabsorption, Chr... |
ORPHA:398063 |
| Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
| Lennox-Gastaut Syndrome |
|
Hyperactivity, Falls |
ORPHA:2382 |
| Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Ulcerative colitis, Interstitial pneumonitis |
OMIM:614878 |
| Hermansky-Pudlak Syndrome 1 |
|
Inflammation of the large intestine, Abdominal pain, Hematochezia, Colitis |
OMIM:203300 |
| Cyclic Neutropenia |
|
Sinusitis, Peritonitis, Periodontitis, Perianal abscess, Otitis media, Recurrent skin infections,... |
ORPHA:2686 |
| Pemphigus Vulgaris |
|
Weight loss, Feeding difficulties in infancy, Recurrent cutaneous abscess formation |
ORPHA:704 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus |
OMIM:610582 |
| Rhabdoid Tumor |
|
Nausea and vomiting, Weight loss, Neoplasm of the liver, Poor appetite, Abdominal pain |
ORPHA:69077 |
| Alazami-Yuan Syndrome |
|
Hyperactivity |
OMIM:617126 |
| Familial Pancreatic Carcinoma |
|
Nausea and vomiting, Anorexia, Intestinal pseudo-obstruction, Functional intestinal obstruction, ... |
ORPHA:1333 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Eczema, Lymphadenitis, Crohn's disease, Perianal abscess, Anal fissure, Acute pancreatitis, Recur... |
OMIM:618935 |
| Allergic Bronchopulmonary Aspergillosis |
|
Weight loss, Bronchiectasis |
ORPHA:1164 |
| Sapho Syndrome |
|
Psoriasiform dermatitis, Inflammation of the large intestine, Pustule, Synovitis, Acne, Arthritis... |
ORPHA:793 |
| Nephroblastoma |
|
Weight loss, Abdominal pain, Neoplasm of the liver |
ORPHA:654 |
| Immunodeficiency 27A |
|
Anorexia, Pneumonia, Weight loss, Salmonella osteomyelitis, Increased inflammatory response, Diar... |
OMIM:209950 |
| Eosinophilic Fasciitis |
|
Weight loss, Fasciitis, Arthritis, Myositis |
ORPHA:3165 |
| Spinocerebellar Ataxia 48 |
|
Dysphagia, Cachexia |
OMIM:618093 |
| Cln5 Disease |
|
Dysmetria, Tremor, Hyperactivity, Inability to walk, Dysdiadochokinesis, Ataxia, Truncal ataxia, ... |
ORPHA:228360 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Fasting hypoglycemia, Hypoglycemia, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis, H... |
OMIM:262190 |
| Neuroendocrine Tumor Of The Rectum |
|
Bloody diarrhea, Anorexia, Tenesmus, Constipation, Bowel urgency, Hypoactive bowel sounds, Protra... |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Bloody diarrhea, Anorexia, Tenesmus, Constipation, Bowel urgency, Hypoactive bowel sounds, Protra... |
ORPHA:100082 |
| Acquired Central Diabetes Insipidus |
|
Weight loss |
ORPHA:95626 |
| Optic Atrophy 11 |
|
Dysmetria, Hyperactivity, Ataxia |
OMIM:617302 |
| Reactive Arthritis |
|
Inflammation of the large intestine, Pericarditis, Pustule, Weight loss, Arthritis, Osteomyelitis... |
ORPHA:29207 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Dysphagia, Esophageal neoplasm, Vomiting, Morphological abnormality of the gastrointestinal tract... |
ORPHA:1018 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Bloody diarrhea, Rectal prolapse, Vomiting, Peritonitis, Acute colitis, Intestinal perforation, P... |
ORPHA:90038 |
| Visceral Myopathy 1 |
|
Dysphagia, Aganglionic megacolon, Megaduodenum, Vomiting, Intestinal pseudo-obstruction, Abdomina... |
OMIM:155310 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity |
OMIM:618342 |
| Acrodermatitis Enteropathica |
|
Anorexia, Pustule, Cheilitis, Failure to thrive, Weight loss, Furrowed tongue, Malabsorption, Chr... |
ORPHA:37 |
| Polyarteritis Nodosa |
|
Weight loss, Pericarditis, Abdominal pain, Abnormality of the gastrointestinal tract |
ORPHA:767 |
| Zygomycosis |
|
Sinusitis, Myocarditis, Colon perforation, Fasciitis, Hepatitis, Melena, Gastritis, Gastrointesti... |
ORPHA:73263 |
| Klatskin Tumor |
|
Weight loss, Abdominal pain, Cholangiocarcinoma |
ORPHA:99978 |
| Erythrokeratodermia Variabilis |
|
Weight loss, Skin rash |
ORPHA:317 |
| Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Weight loss, Vomiting |
OMIM:143880 |
| Thymoma |
|
Myositis, Neoplasm of the gastrointestinal tract, Weight loss, Rheumatoid arthritis, Glomerulonep... |
ORPHA:99867 |
| Mast Cell Sarcoma |
|
Weight loss |
ORPHA:66661 |
| Neuroendocrine Tumor Of The Colon |
|
Bloody diarrhea, Anorexia, Bowel urgency, Protracted diarrhea, Weight loss, Melena, Lack of bowel... |
ORPHA:100080 |
| Takayasu Arteritis |
|
Anorexia, Gastrointestinal infarctions, Weight loss, Arthritis, Increased inflammatory response, ... |
ORPHA:3287 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Feeding difficulties, Cachexia |
ORPHA:157973 |
| Rat-Bite Fever |
|
Myocarditis, Pericarditis, Pustule, Vomiting, Endocarditis, Lymphadenitis, Oligoarthritis, Weight... |
ORPHA:31205 |
| Mu-Heavy Chain Disease |
|
Weight loss |
ORPHA:100024 |
| Kaposi Sarcoma |
|
Weight loss, Diarrhea, Skin rash, Abnormality of the gastrointestinal tract |
ORPHA:33276 |
| Phenylketonuria |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:261600 |
| Gand Syndrome |
|
Hyperactivity |
OMIM:615074 |
| Medullary Thyroid Carcinoma |
|
Weight loss, Dysphagia, Diarrhea |
ORPHA:1332 |
| Holocarboxylase Synthetase Deficiency |
|
Nausea and vomiting, Eczema, Anorexia, Perioral eczema, Weight loss, Keratoconjunctivitis |
ORPHA:79242 |
| Malignant Atrophic Papulosis |
|
Nausea and vomiting, Gastrointestinal infarctions, Peritonitis, Weight loss, Intestinal perforati... |
ORPHA:679 |
| Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Hyperactivity, Dystonia |
ORPHA:88616 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Duodenal ulcer, Hepatitis, Gastritis, Crohn's disease, Diarrhea, Abdominal pain, Villous atrophy,... |
OMIM:619381 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Ataxia, Broad-based gait |
ORPHA:411515 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Atopic dermatitis, Feeding difficulties in infancy, Failure to thrive in infancy, Pustule, Vomiti... |
ORPHA:171876 |
| Christianson Syndrome |
|
Feeding difficulties in infancy, Gastroesophageal reflux, Dysphagia, Cachexia |
ORPHA:85278 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Dystonia, Athetosis, Ataxia |
ORPHA:382 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Chronic diarrhea, Inflammation of the large intestine, Esophageal varix, Failure to thrive |
OMIM:614576 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Sinusitis, Nausea and vomiting, Myocarditis, Dysphagia, Tubulointerstitial nephritis, Endocarditi... |
ORPHA:183 |
| Ring Chromosome 10 Syndrome |
|
Cachexia, Aganglionic megacolon |
ORPHA:1438 |
| Classic Hodgkin Lymphoma |
|
Poor appetite, Weight loss, Anorexia, Skin rash |
ORPHA:391 |
| Fatal Familial Insomnia |
|
Weight loss, Dysphagia, Constipation |
OMIM:600072 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Tremor, Ataxia, Hypoglycemia, Hyperglycemia |
OMIM:220111 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Hyperglycemia, Diabetic ketoacidosis, Type I diabetes mellitus |
OMIM:618858 |
| Osteootohepatoenteric Syndrome |
|
Villous atrophy, Ileoileal intussusception, Episodic vomiting, Failure to thrive, Weight loss, In... |
OMIM:619377 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:618504 |
| Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
| Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Unsteady gait, Hyperactivity, Broad-based gait |
OMIM:617865 |
| Clark-Baraitser Syndrome |
|
Hyperactivity |
OMIM:617752 |
| Aggressive Systemic Mastocytosis |
|
Anorexia, Abdominal cramps, Weight loss, Malabsorption, Decreased liver function, Gastrointestina... |
ORPHA:98850 |
| Anaplastic Thyroid Carcinoma |
|
Weight loss, Dysphagia, Tracheoesophageal fistula |
ORPHA:142 |
| Sepsis In Premature Infants |
|
Vomiting, Small for gestational age, Functional abnormality of the gastrointestinal tract, Gastro... |
ORPHA:90051 |
| Perry Syndrome |
|
Weight loss |
ORPHA:178509 |
| Nodular Non-Suppurative Panniculitis |
|
Nausea and vomiting, Weight loss, Panniculitis, Inflammatory abnormality of the eye, Abdominal pain |
ORPHA:33577 |
| Mental Retardation, Autosomal Recessive 13 |
|
Hyperactivity |
OMIM:613192 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Infectious encephalitis, Erythroderma, Decreased liver function, Maculopapular exanthema, Skin ra... |
ORPHA:540 |
| Follicular Lymphoma |
|
Weight loss |
ORPHA:545 |
| X-Linked Creatine Transporter Deficiency |
|
Cachexia, Aganglionic megacolon, Ileus, Constipation |
ORPHA:52503 |
| Pancreatoblastoma |
|
Vomiting, Weight loss, Abdominal distention, Diarrhea, Abdominal pain |
ORPHA:677 |
| X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Hyperactivity, Broad-based gait |
ORPHA:457260 |
| Familial Colorectal Cancer Type X |
|
Nausea and vomiting, Neoplasm of the rectum, Stomach cancer, Hepatocellular carcinoma, Weight los... |
ORPHA:440437 |
| Igg4-Related Aortitis |
|
Increased inflammatory response, Intestinal obstruction, Weight loss, Abdominal pain |
ORPHA:449400 |
| Landau-Kleffner Syndrome |
|
Steppage gait, Hyperactivity, Attention deficit hyperactivity disorder, Gait ataxia |
ORPHA:98818 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Tubulointerstitial nephritis, Vomiting, Nausea, Weight loss, Intestinal perforation, Dyspepsia, D... |
ORPHA:85450 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Unsteady gait, Hyperactivity |
OMIM:615516 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Failure to thrive, Nausea and vomiting, Weight loss, Diarrhea |
ORPHA:1842 |
| Iga Pemphigus |
|
Pustule, Neutrophilic infiltration of the skin, Cutaneous abscess, Ulcerative colitis |
ORPHA:555905 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Myocarditis, Infectious encephalitis, Erythroderma, Tubulointerstitial nephritis, Pustule, Inters... |
ORPHA:139402 |
| Lynch Syndrome |
|
Nausea and vomiting, Neoplasm of the rectum, Hepatocellular carcinoma, Weight loss, Malabsorption... |
ORPHA:144 |
| Wilson Disease |
|
Failure to thrive, Weight loss, Hepatitis, Arthritis, Acute hepatitis, Acute hepatic failure, Inc... |
ORPHA:905 |
| Microsporidiosis |
|
Sinusitis, Cholangitis, Myocarditis, Hepatitis, Abdominal pain, Infectious encephalitis, Vomiting... |
ORPHA:2552 |
| Idiopathic Bronchiectasis |
|
Cachexia, Acute infectious pneumonia, Bronchiectasis |
ORPHA:60033 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:301013 |
| Rubinstein-Taybi Syndrome 2 |
|
Hyperactivity |
OMIM:613684 |
| Riboflavin Transporter Deficiency |
|
Dysphagia, Cachexia |
ORPHA:97229 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Dystonia, Inability to walk, Gait ataxia |
ORPHA:500180 |
| Ileal Neuroendocrine Tumor |
|
Gastrointestinal obstruction, Small intestine carcinoid, Functional intestinal obstruction, Nause... |
ORPHA:100078 |
| Jejunal Neuroendocrine Tumor |
|
Gastrointestinal obstruction, Small intestine carcinoid, Functional intestinal obstruction, Nause... |
ORPHA:100077 |
| Neuroendocrine Tumor Of Stomach |
|
Nausea and vomiting, Bloody diarrhea, Anorexia, Bowel urgency, Protracted diarrhea, Weight loss, ... |
ORPHA:100075 |
| Tetrasomy 12P |
|
Cachexia, Abnormal soft palate morphology, Anal atresia |
ORPHA:884 |
| Renpenning Syndrome |
|
High, narrow palate, Cachexia, Cleft palate, Anal atresia |
ORPHA:3242 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Necrotizing enterocolitis, Gastroesophageal reflux, Episodic vomiting |
OMIM:201475 |
| Celiac Disease, Susceptibility To, 1 |
|
Eczema, Vomiting, Stomatitis, Celiac disease, Failure to thrive, Abdominal distention, Weight los... |
OMIM:212750 |
| Wild Type Attr Amyloidosis |
|
Gastrointestinal dysmotility, Weight loss, Chronic diarrhea, Intermittent diarrhea, Bowel inconti... |
ORPHA:330001 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Weight loss, Dysphagia, Aspiration pneumonia |
ORPHA:216866 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Hyperglycemia, Diabetes mellitus, Type I diabetes mellitus |
OMIM:606176 |
| Gallbladder Neuroendocrine Tumor |
|
Anorexia, Nausea, Abdominal distention, Biliary tract neoplasm, Weight loss, Episodic abdominal p... |
ORPHA:100086 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Hyperactivity, Ataxia |
OMIM:271980 |
| Myoclonic-Astatic Epilepsy |
|
Tremor, Hyperactivity, Ataxia, Unsteady gait, Attention deficit hyperactivity disorder |
ORPHA:1942 |
| Sandifer Syndrome |
|
Feeding difficulties, Esophagitis, Hiatus hernia, Hematemesis, Gastroesophageal reflux, Episodic ... |
ORPHA:71272 |
| Huntington Disease |
|
Oral-pharyngeal dysphagia, Decreased body mass index, Weight loss |
ORPHA:399 |
| Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
| Kindler Epidermolysis Bullosa |
|
Dysphagia, Inflammation of the large intestine, Cheilitis, Abnormality of the anus, Esophagitis, ... |
ORPHA:2908 |
| Felty Syndrome |
|
Sinusitis, Pericarditis, Episcleritis, Synovitis, Chronic otitis media, Rhinitis, Weight loss, Ar... |
ORPHA:47612 |
| Polymyositis |
|
Anorexia, Pericarditis, Weight loss, Arthritis, Gastrointestinal hemorrhage, Gastroesophageal ref... |
ORPHA:732 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Weight loss, Diarrhea, Bronchiectasis |
ORPHA:411703 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Bloody diarrhea, Failure to thrive, Eosinophilic infiltration of the esophagus, Perianal abscess,... |
OMIM:618213 |
| Graves Disease, Susceptibility To, 1 |
|
Weight loss |
OMIM:275000 |
| Juvenile Polyposis Of Infancy |
|
High, narrow palate, Cachexia, Rectal prolapse, Adenomatous colonic polyposis, Melena, Intussusce... |
ORPHA:79076 |
| Systemic Capillary Leak Syndrome |
|
Myocarditis, Pericarditis, Weight loss, Pancreatitis, Diarrhea, Abdominal pain |
ORPHA:188 |
| Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Weight loss, Panniculitis |
ORPHA:86884 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Hyperactivity |
OMIM:615824 |
| Oromandibular Dystonia |
|
Weight loss, Dysphagia |
ORPHA:93958 |
| Whipple Disease |
|
Myocarditis, Cachexia, Anorexia, Pericarditis, Infectious encephalitis, Myositis, Arthritis, Mala... |
ORPHA:3452 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hyperactivity |
ORPHA:397973 |
| Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
| Chromosome 15Q25 Deletion Syndrome |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:614294 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hyperactivity, Attention deficit hyperactivity disorder, Hypoglycemia, Insulin resistance |
ORPHA:73272 |
| Idiopathic Hypereosinophilic Syndrome |
|
Inflammatory abnormality of the skin, Cholangitis, Eczema, Feeding difficulties in infancy, Eryth... |
ORPHA:3260 |
| Tropical Pancreatitis |
|
Vomiting, Nausea, Weight loss, Chronic calcifying pancreatitis, Malnutrition |
ORPHA:103918 |
| Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Hyperactivity |
OMIM:615286 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Weight loss |
OMIM:613239 |
| Osteosarcoma |
|
Weight loss |
ORPHA:668 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia |
ORPHA:1389 |
| Primary Intestinal Lymphangiectasia |
|
Increased stool alpha1-antitrypsin concentration, Functional abnormality of the gastrointestinal ... |
ORPHA:90362 |
| Rasmussen Subacute Encephalitis |
|
Hyperactivity, Hemidystonia, Attention deficit hyperactivity disorder, Inability to walk |
ORPHA:1929 |
| Chronic Beryllium Disease |
|
Weight loss, Lymphocytic interstitial pneumonia |
ORPHA:133 |
| Imerslund-Gräsbeck Syndrome |
|
Vomiting, Failure to thrive, Weight loss, Angular cheilitis, Poor appetite, Glossitis, Constipation |
ORPHA:35858 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Hyperactivity, Diabetes mellitus |
OMIM:614613 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Cachexia, High palate, Gastroesophageal reflux |
OMIM:618186 |
| Ppoma |
|
Nausea and vomiting, Anorexia, Hypoactive bowel sounds, Weight loss, Neoplasm of the small intest... |
ORPHA:97278 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Hyperactivity |
OMIM:300143 |
| Leishmaniasis |
|
Rhinitis, Weight loss, Anorexia |
ORPHA:507 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Weight loss |
OMIM:188580 |
| Thymic Carcinoma |
|
Weight loss |
ORPHA:99868 |
| Syndromic Diarrhea |
|
Bloody diarrhea, Villous atrophy, Small for gestational age, Intractable diarrhea, Hepatoblastoma... |
ORPHA:84064 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Myocarditis, Bloody diarrhea, Gastrointestinal infarctions, Abdominal cramps, Vomiting, Pneumonia... |
ORPHA:544482 |
| Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Hyperactivity |
OMIM:619467 |
| Fragile X Syndrome |
|
Hyperactivity |
OMIM:300624 |
| Mcdonough Syndrome |
|
Cachexia |
ORPHA:2471 |
| Primary Sclerosing Cholangitis |
|
Neoplasm of the gallbladder, Cholangiocarcinoma, Celiac disease, Hepatocellular carcinoma, Abnorm... |
ORPHA:171 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Atopic dermatitis, Weight loss, Abnormality of the gastrointestinal tract |
ORPHA:2902 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Tremor, Hyperactivity, Gait ataxia |
OMIM:300354 |
| Zollinger-Ellison Syndrome |
|
Duodenal ulcer, Peptic ulcer, Nausea, Weight loss, Esophagitis, Episodic abdominal pain, Intestin... |
ORPHA:913 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Feeding difficulties, Failure to thrive in infancy, Cachexia, Constipation |
OMIM:616801 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Inflammatory abnormality of the skin, Eczema, Abnormal intestine morphology, Infectious encephali... |
ORPHA:391487 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Hyperactivity, Broad-based gait |
OMIM:300958 |
| Non-Functioning Paraganglioma |
|
Episodic abdominal pain, Weight loss, Nausea |
ORPHA:94080 |
| Rheumatoid Arthritis |
|
Weight loss, Rheumatoid arthritis |
OMIM:180300 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Dystonia, Dysmetria, Bradykinesia, Intention tremor, Hyperactivity, Dysdiadochokinesis, Gait ataxia |
OMIM:610217 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Inflammation of the large intestine, Hepatocellular carcinoma, Failure to thrive, Protuberant abd... |
ORPHA:79259 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Weight loss, Diarrhea, Abdominal pain |
ORPHA:54251 |
| Glossopharyngeal Neuralgia |
|
Feeding difficulties, Weight loss, Odynophagia, Oral-pharyngeal dysphagia, Malnutrition |
ORPHA:221098 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Hyperactivity |
OMIM:300558 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hepatic failure, Microcolon, Intestinal malrotation |
OMIM:619431 |
| Sweet Syndrome |
|
Predominantly dermal neutrophilic infiltrate, Inflammation of the large intestine, Pustule, Myosi... |
ORPHA:3243 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Chronic otitis media, Nausea and vomiting, Weight loss |
ORPHA:3226 |
| Neuroblastoma, Susceptibility To, 1 |
|
Failure to thrive, Weight loss, Diarrhea, Abdominal pain |
OMIM:256700 |
| Late-Onset Isolated Acth Deficiency |
|
Nausea and vomiting, Anorexia, Celiac disease, Failure to thrive, Weight loss, Hepatitis, Hashimo... |
ORPHA:199299 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Weight loss, Diarrhea, Small for gestational age |
ORPHA:424 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity |
ORPHA:101039 |
| Myopathy With Extrapyramidal Signs |
|
Dystonia, Tremor, Hyperactivity, Ataxia, Difficulty walking |
OMIM:615673 |
| Toxic Epidermal Necrolysis |
|
Nausea and vomiting, Dysphagia, Weight loss, Intestinal perforation, Pancreatitis, Malabsorption,... |
ORPHA:537 |
| Caroli Disease |
|
Cholangitis, Anorexia, Esophageal varix, Vomiting, Cholangiocarcinoma, Nausea, Weight loss, Abdom... |
ORPHA:53035 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity |
ORPHA:85327 |
| Glucagonoma |
|
Nausea and vomiting, Abnormal gastrointestinal motility, Anorexia, Stomatitis, Weight loss, Episo... |
ORPHA:97280 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Weight loss, Cachexia |
ORPHA:1979 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss, Bronchiectasis |
ORPHA:79127 |
| Grfoma |
|
Nausea and vomiting, Anorexia, Hypoactive bowel sounds, Weight loss, Neoplasm of the small intest... |
ORPHA:97261 |
| Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Hyperactivity |
ORPHA:369939 |
| Xfe Progeroid Syndrome |
|
Cachexia |
OMIM:610965 |
| Hypomagnesemia, Seizures, And Mental Retardation 2 |
|
Hyperactivity |
OMIM:618314 |
| Cocaine Intoxication |
|
Bloody diarrhea, Tubulointerstitial nephritis, Gastrointestinal infarctions, Vomiting, Nausea, In... |
ORPHA:90068 |
| Somatostatinoma |
|
Nausea and vomiting, Anorexia, Weight loss, Neoplasm of the small intestine, Episodic abdominal p... |
ORPHA:97283 |
| Pneumocystosis |
|
Weight loss, Chronic oral candidiasis, Interstitial pneumonitis, Acute infectious pneumonia |
ORPHA:723 |
| Gm1 Gangliosidosis |
|
Dysphagia, Infectious encephalitis, Macroglossia, Feeding difficulties, Weight loss, Failure to t... |
ORPHA:354 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Decreased liver function, Cachexia, Diarrhea, Vomiting |
ORPHA:42 |
| Mental Retardation, Autosomal Dominant 7 |
|
Hyperactivity, Gait disturbance, Ataxia |
OMIM:614104 |
| Bronchial Neuroendocrine Tumor |
|
Anorexia, Bowel urgency, Pneumonia, Protracted diarrhea, Weight loss, Poor appetite, Hepatic failure |
ORPHA:97287 |
| Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Hyperactivity |
OMIM:619239 |
| Huntington Disease-Like 1 |
|
Weight loss |
ORPHA:157941 |
| Congenital Factor Xiii Deficiency |
|
Inflammation of the large intestine, Hepatic failure |
ORPHA:331 |
| Lymphoid Interstitial Pneumonia |
|
Keratoconjunctivitis sicca, Eczema, Bronchiectasis, Failure to thrive, Weight loss, Rheumatoid ar... |
ORPHA:79128 |
| Plague |
|
Bloody diarrhea, Inflammation of the large intestine, Anorexia, Enterocolitis, Vomiting, Endocard... |
ORPHA:707 |
| Mody |
|
Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperglycemia, Glucose intole... |
ORPHA:552 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Inflammation of the large intestine, Interface hepatitis, Granulomatous cholangitis, Sclerosing c... |
ORPHA:562639 |
| Brucellosis |
|
Myocarditis, Knee osteoarthritis, Septic arthritis, Abnormality of hepatobiliary system physiolog... |
ORPHA:1304 |
| Mend Syndrome |
|
Hyperactivity |
OMIM:300960 |
| Lysosomal Acid Lipase Deficiency |
|
Nausea and vomiting, Cachexia, Esophageal varix, Vomiting, Failure to thrive, Feeding difficultie... |
ORPHA:275761 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Weight loss, Feeding difficulties in infancy |
ORPHA:3208 |
| Behçet Disease |
|
Keratoconjunctivitis sicca, Nausea and vomiting, Anorexia, Pericarditis, Infectious encephalitis,... |
ORPHA:117 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Cholangiocarcinoma, Hepatocellular carcinoma, Weight loss, Arthritis, Chronic hepatic failure, Ab... |
ORPHA:465508 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Anorexia, Nausea, Abdominal distention, Weight loss, Neoplasm of the liver, Episodic abdominal pa... |
ORPHA:100085 |
| Familial Gestational Hyperthyroidism |
|
Hyperactivity, Hand tremor |
ORPHA:99819 |
| Pelizaeus-Merzbacher Disease |
|
Bowel incontinence, Failure to thrive in infancy, Cachexia |
ORPHA:702 |
| Infantile Neuroaxonal Dystrophy |
|
Dystonia, Gait disturbance, Hyperactivity, Ataxia, Unsteady gait |
ORPHA:35069 |
| Cryptogenic Organizing Pneumonia |
|
Weight loss, Anorexia |
ORPHA:1302 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Gait imbalance, Tremor, Ataxia, Hyperactivity, Broad-based gait |
ORPHA:98794 |
| Lamb-Shaffer Syndrome |
|
Hyperactivity, Ataxia |
ORPHA:530983 |
| Adenylosuccinase Deficiency |
|
Hyperactivity, Inability to walk, Gait ataxia, Opisthotonus |
OMIM:103050 |
| Simple Cryoglobulinemia |
|
Pericarditis, Weight loss, Nephritis, Arthritis, Gastrointestinal hemorrhage, Abnormality of the ... |
ORPHA:91139 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Nausea and vomiting, Abdominal distention, Intestinal malrotation, Hypoperistalsis, Abnormality o... |
ORPHA:2241 |
| Pyomyositis |
|
Weight loss, Recurrent cutaneous abscess formation, Myositis |
ORPHA:764 |
| 2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Ataxia |
ORPHA:228402 |
| Stevens-Johnson Syndrome |
|
Nausea and vomiting, Dysphagia, Weight loss, Pancreatitis, Gastrointestinal hemorrhage, Acute hep... |
ORPHA:36426 |
| Autoimmune Lymphoproliferative Syndrome |
|
Neoplasm of the tongue, Hepatocellular carcinoma, Glomerulonephritis, Hepatitis, Panniculitis, Ar... |
