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 |
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Inflammation of the large intestine, Interface hepatitis, Granulomatous cholangitis, Sclerosing c... |
ORPHA:562639 |
Brucellosis |
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Myocarditis, Knee osteoarthritis, Septic arthritis, Abnormality of hepatobiliary system physiolog... |
ORPHA:1304 |
Mend Syndrome |
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Hyperactivity |
OMIM:300960 |
Lysosomal Acid Lipase Deficiency |
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Nausea and vomiting, Cachexia, Esophageal varix, Vomiting, Failure to thrive, Feeding difficultie... |
ORPHA:275761 |
Isolated Succinate-Coq Reductase Deficiency |
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Weight loss, Feeding difficulties in infancy |
ORPHA:3208 |
Behçet Disease |
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Keratoconjunctivitis sicca, Nausea and vomiting, Anorexia, Pericarditis, Infectious encephalitis,... |
ORPHA:117 |
Symptomatic Form Of Hemochromatosis Type 1 |
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Cholangiocarcinoma, Hepatocellular carcinoma, Weight loss, Arthritis, Chronic hepatic failure, Ab... |
ORPHA:465508 |
Primary Hepatic Neuroendocrine Carcinoma |
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Anorexia, Nausea, Abdominal distention, Weight loss, Neoplasm of the liver, Episodic abdominal pa... |
ORPHA:100085 |
Familial Gestational Hyperthyroidism |
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Hyperactivity, Hand tremor |
ORPHA:99819 |
Pelizaeus-Merzbacher Disease |
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Bowel incontinence, Failure to thrive in infancy, Cachexia |
ORPHA:702 |
Infantile Neuroaxonal Dystrophy |
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Dystonia, Gait disturbance, Hyperactivity, Ataxia, Unsteady gait |
ORPHA:35069 |
Cryptogenic Organizing Pneumonia |
|
Weight loss, Anorexia |
ORPHA:1302 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
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Gait imbalance, Tremor, Ataxia, Hyperactivity, Broad-based gait |
ORPHA:98794 |
Lamb-Shaffer Syndrome |
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Hyperactivity, Ataxia |
ORPHA:530983 |
Adenylosuccinase Deficiency |
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Hyperactivity, Inability to walk, Gait ataxia, Opisthotonus |
OMIM:103050 |
Simple Cryoglobulinemia |
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Pericarditis, Weight loss, Nephritis, Arthritis, Gastrointestinal hemorrhage, Abnormality of the ... |
ORPHA:91139 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
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Nausea and vomiting, Abdominal distention, Intestinal malrotation, Hypoperistalsis, Abnormality o... |
ORPHA:2241 |
Pyomyositis |
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Weight loss, Recurrent cutaneous abscess formation, Myositis |
ORPHA:764 |
2Q23.1 Microdeletion Syndrome |
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Hyperactivity, Ataxia |
ORPHA:228402 |
Stevens-Johnson Syndrome |
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Nausea and vomiting, Dysphagia, Weight loss, Pancreatitis, Gastrointestinal hemorrhage, Acute hep... |
ORPHA:36426 |
Autoimmune Lymphoproliferative Syndrome |
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Neoplasm of the tongue, Hepatocellular carcinoma, Glomerulonephritis, Hepatitis, Panniculitis, Ar... |