| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Inflammatory Bowel Disease 29 |
|
Ulcerative colitis, Crohn's disease |
OMIM:618077 |
| Inflammatory Bowel Disease 3 |
|
Ulcerative colitis |
OMIM:604519 |
| Inflammatory Bowel Disease 21 |
|
Ulcerative colitis |
OMIM:612354 |
| Attention Deficit-Hyperactivity Disorder 8 |
|
Attention deficit hyperactivity disorder |
OMIM:619957 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Inflammatory Bowel Disease 13 |
|
Inflammation of the large intestine |
OMIM:612244 |
| Inflammatory Bowel Disease (Crohn Disease) 19 |
|
Inflammation of the large intestine |
OMIM:612278 |
| Inflammatory Bowel Disease 11 |
|
Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine |
OMIM:191390 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Gilles De La Tourette Syndrome |
|
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... |
OMIM:137580 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Inflammation o... |
OMIM:266600 |
| Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
| Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium |
OMIM:616868 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting |
OMIM:142623 |
| Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Colitis, Pyoderma, Crohn's disease |
OMIM:613148 |
| Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-los... |
OMIM:619079 |
| Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
| Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... |
OMIM:612567 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Ulcerative colitis, Bloody diarrhea |
OMIM:619398 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Abnormal large intestine morphology, Poor appet... |
ORPHA:2198 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
| Ficolin 3 Deficiency |
|
Necrotizing enterocolitis |
OMIM:613860 |
| Idiopathic Achalasia |
|
Malnutrition, Weight loss, Gastroesophageal reflux, Dysphagia, Recurrent aspiration pneumonia |
ORPHA:930 |
| Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
| Intellectual Developmental Disorder, Autosomal Dominant 69 |
|
Attention deficit hyperactivity disorder, Intention tremor |
OMIM:617863 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis, Obesity |
ORPHA:88643 |
| Cap Polyposis |
|
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co... |
ORPHA:160148 |
| Mantle Cell Lymphoma |
|
Abnormality of the gastrointestinal tract, Anorexia, Weight loss |
ORPHA:52416 |
| 5-Oxoprolinase Deficiency |
|
Diarrhea, Vomiting, Enterocolitis, Abdominal pain |
OMIM:260005 |
| Pseudomyxoma Peritonei |
|
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Weight loss, Inflammation of the lar... |
ORPHA:26790 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
| Pulmonary Blastoma |
|
Recurrent pneumonia, Weight loss |
ORPHA:64741 |
| Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
| Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
| Hirschsprung Disease |
|
Intestinal polyposis, Nausea and vomiting, Intestinal obstruction, Aganglionic megacolon, Failure... |
ORPHA:388 |
| Intestinal Dysmotility Syndrome |
|
Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Weight lo... |
OMIM:620045 |
| Immunodeficiency, Common Variable, 11 |
|
Inflammation of the large intestine, Failure to thrive, Crohn's disease, Mucoid diarrhea |
OMIM:615767 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Nasogastric tube feeding in infancy, Cleft palate, Feeding difficulties, Weight loss, Aspiration ... |
ORPHA:141152 |
| Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
| Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors, Dystonia |
OMIM:301107 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Limb dystonia |
OMIM:620270 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Intestinal pseudo-obstruction, Cachexia, Malabsorption, Abdominal pain, Abdominal distention, Gas... |
OMIM:613662 |
| Tuberculosis |
|
Weight loss |
ORPHA:3389 |
| Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
| Gastroesophageal Reflux |
|
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis |
OMIM:109350 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Chronic diarrhea, Atopic dermatitis, Ulcerative colitis, Bronchiectasis, Colonic eosin... |
OMIM:617638 |
| Immunodeficiency 37 |
|
Colitis, Infectious encephalitis |
OMIM:616098 |
| Esophagitis, Eosinophilic, 1 |
|
Failure to thrive, Vomiting, Esophagitis, Dysphagia |
OMIM:610247 |
| Esophagitis, Eosinophilic, 2 |
|
Failure to thrive, Vomiting, Esophagitis, Dysphagia |
OMIM:613412 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Colitis, Minimal change glomerulonephritis |
OMIM:617006 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Epidermolysis Bullosa Acquisita |
|
Inflammation of the large intestine, Abdominal pain |
ORPHA:46487 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
| Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
| Immunodeficiency 57 With Autoinflammation |
|
Gastritis, Skin rash, Perianal abscess, Diarrhea, Bronchiectasis, Inflammation of the large intes... |
OMIM:618108 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Dystonia |
OMIM:612716 |
| Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation |
OMIM:619970 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Acne, Recurrent skin infections, Erythema nodosum, Hepatitis, Folliculitis, Inflammation of the l... |
OMIM:300635 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Broad-based gait, Aggressive behavior, Tremor, Abnormal repetitive mannerisms |
OMIM:619470 |
| Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Anorexia, Poor appetite, Nausea, Abno... |
ORPHA:2494 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Hyperactivity, Tremor, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance |
OMIM:618090 |
| Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Hartnup Disorder |
|
Episodic ataxia, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
| Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia |
OMIM:613402 |
| Pfapa Syndrome |
|
Nausea and vomiting, Abdominal pain, Malabsorption, Weight loss, Arthritis, Infectious encephalitis |
ORPHA:42642 |
| Undifferentiated Pleomorphic Sarcoma |
|
Anorexia, Weight loss |
ORPHA:2023 |
| Hyperprolinemia, Type I |
|
Hyperactivity, Abnormal repetitive mannerisms, Ataxia, Aggressive behavior |
OMIM:239500 |
| Trichohepatoenteric Syndrome 2 |
|
Villous atrophy, Small for gestational age, Diarrhea, Chronic diarrhea, Bloody diarrhea, Chronic ... |
OMIM:614602 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Immunodeficiency 76 |
|
Chronic diarrhea, Colitis, Recurrent pneumonia |
OMIM:619164 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abdominal distention, Diarrhea, Weight loss, Hematochezia, Protein-losing enteropathy |
ORPHA:103910 |
| Chronic Hiccup |
|
Malnutrition, Weight loss |
ORPHA:396 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperinsulinemia, Polyphagia, Aggressive behavior |
ORPHA:329249 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Tremor, Hyperactivity, Ataxia, Dystonia |
OMIM:615924 |
| Multicentric Reticulohistiocytosis |
|
Arthritis, Cachexia |
ORPHA:139436 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Abdominal pain, Diarrhea, Colitis, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent ... |
OMIM:613960 |
| Stxbp1-Related Encephalopathy |
|
Hyperactivity, Ataxia, Tremor, Inability to walk, Dystonia |
ORPHA:599373 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Self-injurious behavior, Athetosis, Dystonia |
ORPHA:382 |
| Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
| Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... |
ORPHA:1876 |
| Malignant Peritoneal Mesothelioma |
|
Abdominal pain, Abdominal distention, Peritonitis, Ileus, Weight loss |
ORPHA:168811 |
| Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg... |
ORPHA:411696 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Skin rash, Anterior uveitis, Colitis, Ileal ulcer |
OMIM:616744 |
| Hirschsprung Disease, Susceptibility To, 3 |
|
Total colonic aganglionosis, Aganglionic megacolon, Long-segment aganglionic megacolon |
OMIM:613711 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Tremor, Hyperactivity, Ataxia, Aggressive behavior |
OMIM:300983 |
| Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
| Laryngeal Neuroendocrine Tumor |
|
Oral-pharyngeal dysphagia, Anorexia, Weight loss |
ORPHA:100083 |
| Reticular Dysgenesis |
|
Skin rash, Malabsorption, Diarrhea, Weight loss, Chronic otitis media, Failure to thrive |
ORPHA:33355 |
| Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Allergic rhinitis, Malabsorption, Abdominal pain, Diar... |
ORPHA:2070 |
| Immunodeficiency 70 |
|
Furuncle, Celiac disease, Colitis, Recurrent sinusitis, Achalasia |
OMIM:618969 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Chronic diarrhea, Recurrent pneumonia, Inflammation of the large intestine, Colitis, Recurrent si... |
OMIM:619281 |
| Linear Iga Dermatosis |
|
Inflammation of the large intestine |
ORPHA:46488 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Acne, Sterile arthritis, Arthritis, Colitis, Cystic acne |
OMIM:604416 |
| Type 1 Diabetes Mellitus |
|
Polydipsia, Diabetes mellitus, Polyphagia, Hyperglycemia |
OMIM:222100 |
| Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior |
OMIM:605899 |
| Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo... |
ORPHA:97286 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Chronic mucocutaneous candidiasis, ... |
OMIM:209920 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:619927 |
| Hyperlysinemia, Type I |
|
Hyperactivity |
OMIM:238700 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive m... |
OMIM:618718 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Skin rash, Abdominal pain, Perianal abscess, Diarrhea, Weight loss, Chronic co... |
OMIM:301074 |
| Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Aggressive behavior |
OMIM:248510 |
| Galactose Epimerase Deficiency |
|
Nausea and vomiting, Feeding difficulties, Weight loss |
ORPHA:79238 |
| Autoinflammation With Infantile Enterocolitis |
|
Villous atrophy, Skin rash, Feeding difficulties in infancy, Secretory diarrhea, Enterocolitis, F... |
OMIM:616050 |
| Hereditary Central Diabetes Insipidus |
|
Diarrhea, Vomiting, Weight loss |
ORPHA:30925 |
| Immunodeficiency 60 And Autoimmunity |
|
Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Colitis, Crohn's disease |
OMIM:618394 |
| Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Diarrhea, Weight loss, Feeding difficulties, Vomiting, Failure to thrive |
OMIM:612075 |
| Peritoneal Cystic Mesothelioma |
|
Abdominal pain, Abdominal distention, Peritonitis, Weight loss, Constipation |
ORPHA:168816 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Resting tremor, Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Tremor, Abnormal ... |
ORPHA:3077 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity |
OMIM:300928 |
| Focal Myositis |
|
Myositis, Weight loss |
ORPHA:48918 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Atopic dermatitis, Membranous nephropathy, Colonic eosinophilia,... |
OMIM:618999 |
| Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Intestinal obstruction, Malabsorption, Abdomi... |
ORPHA:131 |
| Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia, Ataxia |
OMIM:618970 |
| Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
| Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Intestinal obstruction, Psoriasiform dermatitis, Jejunal atresia, Intestinal malrotation, Ileal a... |
OMIM:243150 |
| 8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Nausea and vomiting, Anorexia, Abdominal pain, Chronic diarrhea, Weight loss, Acholic stools, Hep... |
ORPHA:65682 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Poor appetite, Skin rash, Weight loss, Arthritis, I... |
ORPHA:324964 |
| Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
| Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
| Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Interstitial pneumonitis, Enterocolitis, Ulcerative colitis |
OMIM:614878 |
| Insulin Autoimmune Syndrome |
|
Arthralgia/arthritis, Weight loss |
ORPHA:411593 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Athetosis, Hyperglycemia, Glycosuria |
OMIM:618857 |
| Immunodeficiency 58 |
|
Helicobacter pylori infection, Recurrent cutaneous abscess formation, Eczema, Allergic rhinitis, ... |
OMIM:618131 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Dystonia, Impulsivity, Aggressive behavior, Inability to walk, Gait ataxia, Dysphagia |
ORPHA:500180 |
| Lennox-Gastaut Syndrome |
|
Hyperactivity, Falls, Aggressive behavior |
ORPHA:2382 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
| Immunodeficiency 40 |
|
Rectal fistula, Chronic diarrhea, Recurrent pneumonia, Interstitial pneumonitis, Chronic oral can... |
OMIM:616433 |
| Central Diabetes Insipidus |
|
Nausea and vomiting, Anorexia, Diarrhea, Weight loss, Failure to thrive |
ORPHA:178029 |
| Juvenile Huntington Disease |
|
Hyperactivity, Broad-based gait, Ataxia, Gait ataxia, Progressive cerebellar ataxia, Dystonia |
ORPHA:248111 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Intestinal obstruction, Abdominal pain, Gastrointestinal dysmotility, Diarrhea, Bloody diarrhea, ... |
ORPHA:67 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Hyperglycemia |
OMIM:307500 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Pneumonia, Erythema nodosum, Chronic diarrhea, Recurrent pne... |
OMIM:614700 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Colitis, Recurrent sinusitis |
OMIM:613101 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Secretory diarrhea, Tubulointerstitial nephritis, Colitis, Vomiting, Psoriasiform derma... |
ORPHA:37042 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Skin rash, Pneumonia, Lymphadenitis, Chronic diarrhea, Chron... |
ORPHA:911 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Recurrent hand flapping, Self-mutilation |
OMIM:615516 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Esophageal stenosis, Colitis |
OMIM:615190 |
| Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior |
OMIM:620023 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Abnormality of the gastrointestinal tract, Small intestinal dysmotility, Cachexia, Poor appetite,... |
ORPHA:298 |
| Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Cachexia, Malabsorption, Anorexia, Abdominal pain, Diarrhea, Furrowed tongu... |
ORPHA:2930 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors |
ORPHA:101039 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:615541 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Colonic diverticula, Intestinal pseudo-obstruction, Gastroparesis, Cachexia, Malabsorption, Intes... |
OMIM:603041 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Necrotizing enterocolitis, Abdominal pain, Feeding difficulties, High palate, Vomiting |
OMIM:616809 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
| Wolman Disease |
|
Nausea and vomiting, Cachexia, Abdominal distention, Malnutrition, Esophageal varix, Steatorrhea,... |
ORPHA:75233 |
| Yao Syndrome |
|
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Abdominal pain, Diarrhea, Xerostom... |
OMIM:617321 |
| X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Malabsorption, Chroni... |
ORPHA:47 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Anorexia, Weight loss |
ORPHA:86893 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Diarrhea, Lymphocytic infiltratio... |
ORPHA:436159 |
| Attrv30M Amyloidosis |
|
Diarrhea, Constipation, Weight loss |
ORPHA:85447 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Tracheoesophageal fistula, Cachexia, Intestinal atresia |
ORPHA:93941 |
| Shigellosis |
|
Failure to thrive in infancy, Pneumonia, Anorexia, Abdominal pain, Intestinal perforation, Myocar... |
ORPHA:810 |
| Spondyloarthropathy, Susceptibility To, 1 |
|
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... |
OMIM:106300 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Malabsorption, Anorexia, Abdominal pain, Diarrhea, Xerostomia, Hamartomatous polyposis,... |
OMIM:175500 |
| Alexander Disease Type I |
|
Failure to thrive, Vomiting, Cachexia, Dysphagia |
ORPHA:363717 |
| Cln5 Disease |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Inability to walk, Unsteady gait, Dysmetria, ... |
ORPHA:228360 |
| Meconium Ileus |
|
Chronic diarrhea, Microcolon, Meconium ileus |
OMIM:614665 |
| Oculopharyngodistal Myopathy |
|
Oral-pharyngeal dysphagia, High, narrow palate, Weight loss, High palate, Impaired oropharyngeal ... |
ORPHA:98897 |
| Bullous Pemphigoid |
|
Psoriasiform dermatitis, Eczema, Weight loss |
ORPHA:703 |
| Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Duodenal ulcer, Cachexia, Malabsorption, Chronic diarrhea, Steatorrhea |
ORPHA:3217 |
| Desmoplastic Small Round Cell Tumor |
|
Nausea and vomiting, Cachexia, Abdominal pain, Abdominal distention, Ileus, Weight loss |
ORPHA:83469 |
| Liposarcoma |
|
Nausea and vomiting, Abdominal pain, Weight loss |
ORPHA:69078 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Erythroderma, Poor appetite, Weight loss |
ORPHA:312 |
| Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Failure to thrive in infancy, Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Colitis |
OMIM:301220 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Eczema, Feeding difficulties in infancy, Chronic diarrhea, Chronic mucocutaneous candidiasis, Inf... |
ORPHA:98813 |
| Diencephalic Syndrome |
|
Cachexia, Decreased body weight |
ORPHA:1672 |
| Pleural Mesothelioma |
|
Dysphagia, Weight loss |
ORPHA:50251 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Keratoconjunctivitis sicca, Colitis,... |
ORPHA:309031 |
| Majeed Syndrome |
|
Inflammatory abnormality of the skin, Osteomyelitis, Acne, Cachexia, Malabsorption, Pustule, Syno... |
ORPHA:77297 |
| Hyperlipoproteinemia, Type Id |
|
Recurrent pancreatitis, Failure to thrive, Colitis, Pancreatitis |
OMIM:615947 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Broad-based gait, Hyperactivity, Ataxia, Inappropriate laughter, Polyphagia |
ORPHA:411515 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperglycemia, Gait disturbance, Hand tremor |
OMIM:604484 |
| Acute Myelomonocytic Leukemia |
|
Weight loss |
ORPHA:517 |
| Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Glomerulonephritis, Abdominal pain, Fulminant hepat... |
ORPHA:2137 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Oral leukoplakia, Pancolitis, Inflammation of the large intestine, Esophageal stricture |
OMIM:620133 |
| Refractory Celiac Disease |
|
Villous atrophy, Inflammatory abnormality of the skin, Malabsorption, Abdominal pain, Chronic dia... |
ORPHA:398063 |
| Pemphigus Vulgaris |
|
Feeding difficulties in infancy, Recurrent cutaneous abscess formation, Weight loss |
ORPHA:704 |
| Moynahan Syndrome |
|
Cachexia |
ORPHA:2574 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
| Pyoderma Gangrenosum |
|
Pustule, Inflammation of the large intestine, Rheumatoid arthritis, Myositis |
ORPHA:48104 |
| Acquired Hypertrichosis Lanuginosa |
|
Poor appetite, Chronic diarrhea, Weight loss, Macroglossia, Glossitis |
ORPHA:2221 |
| Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Vomiting, Weight loss |
OMIM:143880 |
| Glucose-Galactose Malabsorption |
|
Abdominal distention, Diarrhea, Malnutrition, Hyperactive bowel sounds, Weight loss, Vomiting, Fa... |
ORPHA:35710 |
| Spinocerebellar Ataxia 48 |
|
Cachexia, Dysphagia |
OMIM:618093 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Recurrent hand flapping, Abnormal repeti... |
OMIM:617600 |
| Allergic Bronchopulmonary Aspergillosis |
|
Bronchiectasis, Weight loss |
ORPHA:1164 |
| Sapho Syndrome |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Malabsorption, Abdominal pain, Pustule, ... |
ORPHA:793 |
| Nephroblastoma |
|
Neoplasm of the liver, Abdominal pain, Weight loss |
ORPHA:654 |
| Cyclic Neutropenia |
|
Sinusitis, Recurrent skin infections, Abdominal pain, Perianal abscess, Peritonitis, Enterocoliti... |
ORPHA:2686 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Acute pancreatitis, Anal fissure, Eczema, Perianal abscess, Lymphadenitis, Recurrent pneumonia, U... |
OMIM:618935 |
| Rhabdoid Tumor |
|
Nausea and vomiting, Poor appetite, Abdominal pain, Weight loss, Neoplasm of the liver |
ORPHA:69077 |
| Immunodeficiency 27A |
|
Increased inflammatory response, Pneumonia, Anorexia, Diarrhea, Weight loss, Salmonella osteomyel... |
OMIM:209950 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:301013 |
| Eosinophilic Fasciitis |
|
Myositis, Fasciitis, Arthritis, Weight loss |
ORPHA:3165 |
| Familial Pancreatic Carcinoma |
|
Nausea and vomiting, Intestinal pseudo-obstruction, Functional intestinal obstruction, Anorexia, ... |
ORPHA:1333 |
| Inflammatory Pseudotumor Of The Liver |
|
Abdominal pain, Abdominal distention, Weight loss, Neoplasm of the liver, Vomiting, Nausea |
ORPHA:90003 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes |
OMIM:616329 |
| Reactive Arthritis |
|
Pericarditis, Osteomyelitis, Abdominal pain, Pustule, Diarrhea, Enthesitis, Weight loss, Arthriti... |
ORPHA:29207 |
| Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
| Immunodeficiency 97 With Autoinflammation |
|
Recurrent skin infections, Eczema, Abdominal pain, Diarrhea, Enterocolitis, Colitis, Recurrent ot... |
OMIM:619802 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Anorexia, Colitis, Vomiting, Intractable diarrhea, Pustular rash, Abdominal pain... |
OMIM:619381 |
| Neuroendocrine Tumor Of The Rectum |
|
Anorexia, Bowel urgency, Abdominal pain, Lack of bowel sounds, Weight loss, Hematochezia, Melena,... |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Anorexia, Bowel urgency, Abdominal pain, Lack of bowel sounds, Weight loss, Hematochezia, Melena,... |
ORPHA:100082 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Dyspepsia, Esophageal stenosis, Hypoperistalsis, Esophageal neoplasm, Keratitis, Weight loss, Abn... |
ORPHA:1018 |
| Acquired Central Diabetes Insipidus |
|
Weight loss |
ORPHA:95626 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Recurrent pneumonia, Bloody diarrhea, Hematochezia, Inflammation of the large intestin... |
OMIM:617718 |
| Acrodermatitis Enteropathica |
|
Anorexia, Malabsorption, Poor appetite, Pustule, Chronic diarrhea, Cheilitis, Furrowed tongue, We... |
ORPHA:37 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia |
OMIM:618858 |
| Erythrokeratodermia Variabilis |
|
Skin rash, Weight loss |
ORPHA:317 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti... |
OMIM:262190 |
| Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... |
ORPHA:73263 |
| Polyarteritis Nodosa |
|
Abnormality of the gastrointestinal tract, Abdominal pain, Pericarditis, Weight loss |
ORPHA:767 |
| Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Pancreatitis... |
OMIM:155310 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Abdominal pain, Intestinal perforation, Pancreatitis, Rectal prolapse, Diarrhea, Colonic stenosis... |
ORPHA:90038 |
| Neuroendocrine Tumor Of The Colon |
|
Anorexia, Bowel urgency, Abdominal pain, Lack of bowel sounds, Bloody diarrhea, Melena, Weight lo... |
ORPHA:100080 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia, Feeding difficulties |
ORPHA:157973 |
| Takayasu Arteritis |
|
Increased inflammatory response, Anorexia, Weight loss, Arthritis, Gastrointestinal infarctions, ... |
ORPHA:3287 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes |
OMIM:610582 |
| Klatskin Tumor |
|
Cholangiocarcinoma, Abdominal pain, Weight loss |
ORPHA:99978 |
| Mast Cell Sarcoma |
|
Weight loss |
ORPHA:66661 |
| Mu-Heavy Chain Disease |
|
Weight loss |
ORPHA:100024 |
| Thymoma |
|
Myositis, Glomerulonephritis, Ulcerative colitis, Weight loss, Rheumatoid arthritis, Neoplasm of ... |
ORPHA:99867 |
| Kaposi Sarcoma |
|
Abnormality of the gastrointestinal tract, Diarrhea, Skin rash, Weight loss |
ORPHA:33276 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Osteomyelitis, Failure to thrive in infancy, Feeding difficulties in infancy, Pustule, Atopic der... |
ORPHA:171876 |
| Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Intestinal fistula, Nausea and vomiting, Abdominal pain, Intestinal ... |
ORPHA:679 |
| Hermansky-Pudlak Syndrome 1 |
|
Hematochezia, Inflammation of the large intestine, Colitis, Abdominal pain |
OMIM:203300 |
| Holocarboxylase Synthetase Deficiency |
|
Nausea and vomiting, Eczema, Anorexia, Keratoconjunctivitis, Weight loss, Perioral eczema |
ORPHA:79242 |
| Rat-Bite Fever |
|
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... |
ORPHA:31205 |
| Christianson Syndrome |
|
Feeding difficulties in infancy, Gastroesophageal reflux, Cachexia, Dysphagia |
ORPHA:85278 |
| Medullary Thyroid Carcinoma |
|
Diarrhea, Dysphagia, Weight loss |
ORPHA:1332 |
| Classic Hodgkin Lymphoma |
|
Poor appetite, Skin rash, Anorexia, Weight loss |
ORPHA:391 |
| Anaplastic Thyroid Carcinoma |
|
Tracheoesophageal fistula, Dysphagia, Weight loss |
ORPHA:142 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Nausea and vomiting, Increased inflammatory response, Intestinal obstruction, Myositis, Sinusitis... |
ORPHA:183 |
| X-Linked Creatine Transporter Deficiency |
|
Constipation, Ileus, Aganglionic megacolon, Cachexia |
ORPHA:52503 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Chronic diarrhea, Inflammation of the large intestine, Failure to thrive, Esophageal varix |
OMIM:614576 |
| Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Maculopapular exanthema, Anorexia, Malabsorption, Abdominal pain, Di... |
ORPHA:98850 |
| Perry Syndrome |
|
Weight loss |
ORPHA:178509 |
| Ring Chromosome 10 Syndrome |
|
Aganglionic megacolon, Cachexia |
ORPHA:1438 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus |
OMIM:606176 |
| Follicular Lymphoma |
|
Weight loss |
ORPHA:545 |
| Sepsis In Premature Infants |
|
Small for gestational age, Abdominal distention, Gastrointestinal dysmotility, Diarrhea, Enteroco... |
ORPHA:90051 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tremor, Tongue thrusting, Inap... |
ORPHA:98794 |
| Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Abdominal pain, Se... |
OMIM:619377 |
| Nodular Non-Suppurative Panniculitis |
|
Nausea and vomiting, Abdominal pain, Weight loss, Panniculitis, Inflammatory abnormality of the eye |
ORPHA:33577 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Maculopapular exanthema, Skin rash, Colitis, Decreased liver function, Erythroderma, Infectious e... |
ORPHA:540 |
| Igg4-Related Aortitis |
|
Abdominal pain, Intestinal obstruction, Increased inflammatory response, Weight loss |
ORPHA:449400 |
| Iga Pemphigus |
|
Pustule, Neutrophilic infiltration of the skin, Ulcerative colitis, Cutaneous abscess |
ORPHA:555905 |
| Fatal Familial Insomnia |
|
Constipation, Dysphagia, Weight loss |
OMIM:600072 |
| Lynch Syndrome |
|
Intestinal polyposis, Gastrointestinal hemorrhage, Nausea and vomiting, Malabsorption, Abdominal ... |
ORPHA:144 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Skin rash, Pustule, Myocarditis, Hepatitis, Thyroiditis, Weight loss, Tubu... |
ORPHA:139402 |
| Celiac Disease, Susceptibility To, 1 |
|
Eczema, Abdominal pain, Celiac disease, Abdominal distention, Diarrhea, Thyroiditis, Weight loss,... |
OMIM:212750 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Eosinophilic infiltration of the esophagus, Perianal abscess, Pancolitis, Bloody diarrhea, Anoper... |
OMIM:618213 |
| Pancreatoblastoma |
|
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Vomiting |
ORPHA:677 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Intestinal obstruction, D... |
ORPHA:85450 |
| Idiopathic Bronchiectasis |
|
Acute infectious pneumonia, Bronchiectasis, Cachexia |
ORPHA:60033 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Abnormal re... |
OMIM:610042 |
| Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Anorexia, Lymphadenitis, Vomiting, Nephritis, Infectious enceph... |
ORPHA:2552 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Diabetes mellitus, Aggressive behavior, Self-injurious behavior, Abnormal temper t... |
ORPHA:449291 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Nausea and vomiting, Diarrhea, Failure to thrive, Weight loss |
ORPHA:1842 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Eczema, Abdominal pain, Lymphadenitis, Chronic diarrhea, Hematochezia, Inflammation of the large ... |
OMIM:615895 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Aspiration pneumonia, Dysphagia, Weight loss |
ORPHA:216866 |
| Familial Colorectal Cancer Type X |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Malabsorption, Hepatocellular carcinoma, Abdomi... |
ORPHA:440437 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Episodic vomiting, Necrotizing enterocolitis, Gastroesophageal reflux |
OMIM:201475 |
| Immunodeficiency 31C |
|
Villous atrophy, Osteomyelitis, Eczema, Diarrhea, Bronchiectasis, Chronic mucocutaneous candidias... |
OMIM:614162 |
| Neuroendocrine Tumor Of Stomach |
|
Nausea and vomiting, Anorexia, Poor appetite, Hematemesis, Bowel urgency, Lack of bowel sounds, W... |
ORPHA:100075 |
| Wilson Disease |
|
Acute hepatic failure, Increased body weight, Hepatitis, Weight loss, Arthritis, Acute hepatitis,... |
ORPHA:905 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Diarrhea, Bronchiectasis, Weight loss |
ORPHA:411703 |
| Riboflavin Transporter Deficiency |
|
Cachexia, Dysphagia |
ORPHA:97229 |
| Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
| Wild Type Attr Amyloidosis |
|
Bowel incontinence, Gastrointestinal dysmotility, Chronic diarrhea, Weight loss, Intermittent dia... |
ORPHA:330001 |
| Renpenning Syndrome |
|
High, narrow palate, Cleft palate, Cachexia, Anal atresia |
ORPHA:3242 |
| Huntington Disease |
|
Oral-pharyngeal dysphagia, Decreased body mass index, Weight loss |
ORPHA:399 |
| Systemic Capillary Leak Syndrome |
|
Pericarditis, Abdominal pain, Myocarditis, Diarrhea, Weight loss, Pancreatitis |
ORPHA:188 |
| Felty Syndrome |
|
Episcleritis, Pericarditis, Sinusitis, Recurrent pneumonia, Synovitis, Weight loss, Arthritis, Rh... |
ORPHA:47612 |
| Tetrasomy 12P |
|
Abnormal soft palate morphology, Anal atresia, Cachexia |
ORPHA:884 |
| Chronic Beryllium Disease |
|
Lymphocytic interstitial pneumonia, Weight loss |
ORPHA:133 |
| Polymyositis |
|
Gastrointestinal hemorrhage, Pericarditis, Anorexia, Abdominal pain, Weight loss, Arthritis, Gast... |
ORPHA:732 |
| Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Panniculitis, Weight loss |
ORPHA:86884 |
| Ileal Neuroendocrine Tumor |
|
Intestinal fistula, Functional intestinal obstruction, Gastrointestinal obstruction, Weight loss,... |
ORPHA:100078 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:609812 |
| Primary Intestinal Lymphangiectasia |
|
Increased stool alpha1-antitrypsin concentration, Abdominal pain, Chronic diarrhea, Functional ab... |
ORPHA:90362 |
| Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Cachexia, Abdominal pain, High, narrow palate, Rectal prolapse, Aden... |
ORPHA:79076 |
| Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
| Gallbladder Neuroendocrine Tumor |
|
Anorexia, Biliary tract neoplasm, Abdominal distention, Episodic abdominal pain, Weight loss, Cho... |
ORPHA:100086 |
| Kindler Epidermolysis Bullosa |
|
Recurrent skin infections, Esophageal stricture, Cheilitis, Inflammation of the large intestine, ... |
ORPHA:2908 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia |
ORPHA:1389 |
| Oromandibular Dystonia |
|
Dysphagia, Weight loss |
ORPHA:93958 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Constipation, Failure to thrive in infancy, Cachexia, Feeding difficulties |
OMIM:616801 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
| Whipple Disease |
|
Gastrointestinal hemorrhage, Myositis, Pericarditis, Anorexia, Cachexia, Malabsorption, Abdominal... |
ORPHA:3452 |
| Idiopathic Hypereosinophilic Syndrome |
|
Inflammatory abnormality of the skin, Cholangitis, Eczema, Malabsorption, Feeding difficulties in... |
ORPHA:3260 |
| Tropical Pancreatitis |
|
Malnutrition, Weight loss, Chronic calcifying pancreatitis, Vomiting, Nausea |
ORPHA:103918 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Hyperactivity, Dystonia, Impulsivity, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dysphagia, Inte... |
OMIM:610217 |
| Non-Functioning Paraganglioma |
|
Episodic abdominal pain, Nausea, Weight loss |
ORPHA:94080 |
| Imerslund-Gräsbeck Syndrome |
|
Angular cheilitis, Poor appetite, Weight loss, Vomiting, Constipation, Failure to thrive, Glossitis |
ORPHA:35858 |
| Leishmaniasis |
|
Rhinitis, Anorexia, Weight loss |
ORPHA:507 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Weight loss |
OMIM:188580 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Abnormality of the gastrointestinal tract, Atopic dermatitis, Weight loss |
ORPHA:2902 |
| Osteosarcoma |
|
Weight loss |
ORPHA:668 |
| Mcdonough Syndrome |
|
Cachexia |
ORPHA:2471 |
| Glossopharyngeal Neuralgia |
|
Oral-pharyngeal dysphagia, Odynophagia, Malnutrition, Feeding difficulties, Weight loss |
ORPHA:221098 |
| Graves Disease, Susceptibility To, 1 |
|
Weight loss |
OMIM:275000 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Villous atrophy, Inflammatory abnormality of the skin, Eczema, Diarrhea, Esophageal carcinoma, En... |
ORPHA:391487 |
| Thymic Carcinoma |
|
Weight loss |
ORPHA:99868 |
| Syndromic Diarrhea |
|
Villous atrophy, Small for gestational age, Gastritis, Bloody diarrhea, Colitis, Hepatoblastoma, ... |
ORPHA:84064 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Pneumonia, Nausea, Abdominal pain, Intestinal perforation, Myocarditis, Diarrhea, Pancreatitis, S... |
ORPHA:544482 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Feeding difficulties in infancy, Weight loss |
ORPHA:3208 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Self-biting |
OMIM:618314 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Diarrhea, Hepatocellular adenoma, Enterocolitis, Ulcerative colitis, Gout, Thyroiditis, Inflammat... |
ORPHA:79259 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Chronic otitis media, Nausea and vomiting, Weight loss |
ORPHA:3226 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula, Dysphagia, Absent uvul... |
OMIM:619708 |
| Ppoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite... |
ORPHA:97278 |
| Mody |
|
Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis,... |
ORPHA:552 |
| Rheumatoid Arthritis |
|
Rheumatoid arthritis, Weight loss |
OMIM:180300 |
| Zollinger-Ellison Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Duodenal ulcer, Peptic ulcer, Diarrhea, Weig... |
ORPHA:913 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Gastroesophageal reflux, Narrow palate, High palate, Cachexia |
OMIM:618186 |
| Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Malabsorption, Intestina... |
ORPHA:537 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Weight loss |
OMIM:613239 |
| Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Cholangiocarcinoma, Abnormal large intestine physiology, Hepatocellular ca... |
ORPHA:171 |
| Pneumocystosis |
|
Acute infectious pneumonia, Chronic oral candidiasis, Interstitial pneumonitis, Weight loss |
ORPHA:723 |
| Late-Onset Isolated Acth Deficiency |
|
Nausea and vomiting, Anorexia, Abdominal pain, Celiac disease, Diarrhea, Hepatitis, Weight loss, ... |
ORPHA:199299 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Microcolon, Intestinal malrotation, Hepatic failure |
OMIM:619431 |
| Sweet Syndrome |
|
Predominantly dermal neutrophilic infiltrate, Myositis, Acne, Pustule, Oligoarthritis, Inflammati... |
ORPHA:3243 |
| Familial Gestational Hyperthyroidism |
|
Hyperactivity, Agitation, Hand tremor |
ORPHA:99819 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abdominal pain, Diarrhea, Weight loss |
ORPHA:54251 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Bronchiectasis, Weight loss |
ORPHA:79127 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Diarrhea, Vomiting, Decreased liver function, Cachexia |
ORPHA:42 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Weight loss |
ORPHA:1979 |
| Neuroblastoma, Susceptibility To, 1 |
|
Abdominal pain, Diarrhea, Failure to thrive, Weight loss |
OMIM:256700 |
| Huntington Disease-Like 1 |
|
Weight loss |
ORPHA:157941 |
| Gm1 Gangliosidosis |
|
Weight loss, Feeding difficulties, Macroglossia, Gastroesophageal reflux, Aspiration pneumonia, D... |
ORPHA:354 |
| Glucagonoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Skin rash, Anorexia, Po... |
ORPHA:97280 |
| Plague |
|
Chapped lip, Skin rash, Anorexia, Abdominal pain, Hematemesis, Lymphadenitis, Erythema nodosum, D... |
ORPHA:707 |
| Lysosomal Acid Lipase Deficiency |
|
Nausea and vomiting, Fatal liver failure in infancy, Cachexia, Abdominal pain, Abdominal distenti... |
ORPHA:275761 |
| Cocaine Intoxication |
|
Glomerulonephritis, Abdominal pain, Intestinal perforation, Bloody diarrhea, Tubulointerstitial n... |
ORPHA:90068 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Cachexia, Nasogastric tube feeding in infancy, Feeding difficulties, Constipation, Severe failure... |
ORPHA:371364 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Diarrhea, Small for gestational age, Weight loss |
ORPHA:424 |
| Bronchial Neuroendocrine Tumor |
|
Pneumonia, Bowel urgency, Poor appetite, Anorexia, Weight loss, Protracted diarrhea, Hepatic failure |
ORPHA:97287 |
| Familial Renal Glucosuria |
|
Hyperglycemia, Insulin resistance, Abnormal oral glucose tolerance, Glycosuria |
ORPHA:69076 |
| Congenital Factor Xiii Deficiency |
|
Inflammation of the large intestine, Hepatic failure |
ORPHA:331 |
| Grfoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite... |
ORPHA:97261 |
| Lymphoid Interstitial Pneumonia |
|
Skin rash, Eczema, Bronchiectasis, Weight loss, Keratoconjunctivitis sicca, Rheumatoid arthritis,... |
ORPHA:79128 |
| Cryptogenic Organizing Pneumonia |
|
Anorexia, Weight loss |
ORPHA:1302 |
| Somatostatinoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite... |
ORPHA:97283 |
| Brucellosis |
|
Anorexia, Knee osteoarthritis, Vomiting, Infectious encephalitis, Nausea, Abdominal pain, Epididy... |
ORPHA:1304 |
| Caroli Disease |
|
Cholangiocarcinoma, Cholangitis, Anorexia, Abdominal pain, Esophageal varix, Weight loss, Abdomin... |
ORPHA:53035 |
| Pelizaeus-Merzbacher Disease |
|
Bowel incontinence, Failure to thrive in infancy, Cachexia |
ORPHA:702 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Granulomatous cholangitis, Ulcerative colitis, Sclerosing cholangitis, Inflammation of the large ... |
ORPHA:562639 |
| Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Abdominal pain, Esophage... |
ORPHA:36426 |
| Behçet Disease |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Myositis, Increased inflammatory response, Acne... |
ORPHA:117 |
| Castleman Disease |
|
Abnormality of the gastrointestinal tract, Nausea and vomiting, Intestinal obstruction, Abdominal... |
ORPHA:160 |
| Fumarase Deficiency |
|
Necrotizing enterocolitis, Failure to thrive, High palate, Hepatic failure |
OMIM:606812 |
| Rett Syndrome |
|
Constipation, Gastroesophageal reflux, Cachexia |
OMIM:312750 |
| Familial Glucocorticoid Deficiency |
|
Anorexia, Diarrhea, Episodic abdominal pain, Weight loss, Vomiting, Constipation, Failure to thrive |
ORPHA:361 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Abnormality of the gastrointestinal tract, Nausea and vomiting, Intestinal malrotation, Hypoperis... |
ORPHA:2241 |
| Solitary Fibrous Tumor |
|
Neoplasm of the liver, Constipation, Weight loss |
ORPHA:2126 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cholangiocarcinoma, Abdominal pain, Weight loss, Arthritis, Hepatocellular carcinoma, Chronic hep... |
ORPHA:465508 |
| Pyomyositis |
|
Recurrent cutaneous abscess formation, Myositis, Weight loss |
ORPHA:764 |
| Autoimmune Lymphoproliferative Syndrome |
|
Gastritis, Glomerulonephritis, Hepatitis, Uveitis, Thyroiditis, Arthritis, Colitis, Panniculitis,... |
ORPHA:3261 |
| Al Amyloidosis |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Gastroparesis, Abdominal ... |
ORPHA:85443 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Anorexia, Abdominal distention, Diarrhea, Episodic abdominal pain, Weight loss, Neoplasm of the l... |
ORPHA:100085 |
| Simple Cryoglobulinemia |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Pericarditis, Membranopro... |
ORPHA:91139 |
| Loeffler Endocarditis |
|
Pericarditis, Weight loss |
ORPHA:75566 |
| Giant Cell Arteritis |
|
Pericarditis, Anorexia, Abdominal pain, Weight loss, Arthritis, Gastrointestinal infarctions, Hep... |
ORPHA:397 |
| Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Myositis, Pericarditis, Skin rash, Abdominal pain, Weight loss, Arth... |
ORPHA:93672 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Cachexia |
ORPHA:1933 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Hyperactivity, Dystonia, Ataxia, Akinesia, Tremor, Phonic tics, Choreoathetosis, Blepharospasm, G... |
OMIM:234200 |
| Acute Monoblastic/Monocytic Leukemia |
|
Anorexia, Weight loss |
ORPHA:514 |
| Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Necrotizing enterocolitis, Small for gestational age, Villous atrophy, Secret... |
OMIM:619573 |
| Flynn-Aird Syndrome |
|
Cachexia |
ORPHA:2047 |
| Silver-Russell Syndrome |
|
Failure to thrive in infancy, Cachexia, Obesity, Feeding difficulties, Gastroesophageal reflux, C... |
ORPHA:813 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Nausea and vomiting, Anorexia, Abdominal distention, Episodic abdominal pain, Weight loss, Pancre... |
ORPHA:370348 |
| Glycogen Storage Disease Ib |
|
Gout, Inflammation of the large intestine, Protuberant abdomen, Hepatocellular carcinoma, Pancrea... |
OMIM:232220 |
| Malt Lymphoma |
|
Nausea and vomiting, Abdominal pain, Weight loss, Constipation, Posterior uveitis |
ORPHA:52417 |
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Synovitis, Enthesitis, Uveitis, Weight loss, ... |
ORPHA:85408 |
| Vipoma |
|
Nausea and vomiting, Anorexia, Malabsorption, Poor appetite, Secretory diarrhea, Weight loss, Hem... |
ORPHA:97282 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Cachexia |
ORPHA:2774 |
| Postinfectious Vasculitis |
|
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... |
ORPHA:48435 |
| Infantile Krabbe Disease |
|
Cachexia, Nasogastric tube feeding in infancy, Feeding difficulties, Gastroesophageal reflux, Vom... |
ORPHA:206436 |
| Q Fever |
|
Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Anorexia, Myocarditis, Hepatitis... |
ORPHA:781 |
| Aicardi-Goutieres Syndrome 9 |
|
Acute pancreatitis, Pericarditis, Chilblains, Weight loss, Feeding difficulties, Failure to thrive |
OMIM:619487 |
| Acute Promyelocytic Leukemia |
|
Stomatitis, Abdominal pain, Anorexia, Weight loss |
ORPHA:520 |
| Wiskott-Aldrich Syndrome |
|
Sinusitis, Eczema, Hematemesis, Keratitis, Chronic diarrhea, Hematochezia, Arthritis, Inflammatio... |
ORPHA:906 |
| Perry Syndrome |
|
Weight loss |
OMIM:168605 |
| Sarcoidosis, Susceptibility To, 1 |
|
Anorexia, Iridocyclitis, Bronchiectasis, Uveitis, Weight loss, Arthritis, Inflammation of the lar... |
OMIM:181000 |
| Granulomatosis With Polyangiitis |
|
Episcleritis, Sinusitis, Keratitis, Uveitis, Weight loss, Conjunctivitis, Chronic otitis media |
OMIM:608710 |
| Glycogen Storage Disease Ic |
|
Stomatitis, Chronic pancreatitis, Gout, Inflammation of the large intestine, Hepatocellular carci... |
OMIM:232240 |
| Wiskott-Aldrich Syndrome |
|
Eczema, Hematemesis, Diarrhea, Chronic diarrhea, Recurrent pneumonia, Ulcerative colitis, Melena,... |
OMIM:301000 |
| Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Hematemesis, Diarrhea, Hepatitis, Atopic de... |
OMIM:615846 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Abdominal pain, Weight loss |
ORPHA:729 |
| Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Sinusitis, Pericarditis... |
ORPHA:900 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Peptic ulcer, Abdominal pain, Diarrhea, Weight loss, Nausea |
ORPHA:98849 |
| Mednik Syndrome |
|
Volvulus, Jejunal atresia, Microcolon, Diarrhea |
OMIM:609313 |
| 8P23.1 Microdeletion Syndrome |
|
High palate, Obesity, Weight loss |
ORPHA:251071 |
| 19Q13.11 Microdeletion Syndrome |
|
Failure to thrive, Cachexia, Feeding difficulties |
ORPHA:217346 |
| Short Syndrome |
|
Poor appetite, Weight loss |
ORPHA:3163 |
| Beta-Ketothiolase Deficiency |
|
Diarrhea, Vomiting, Anorexia, Weight loss |
ORPHA:134 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Nausea and vomiting, Psoriasiform dermatitis, Deep dermal perivascular inflammatory infiltrate, A... |
ORPHA:49041 |
| Nocardiosis |
|
Pericarditis, Osteomyelitis, Pneumonia, Anorexia, Keratitis, Lymphadenitis, Peritonitis, Thyroidi... |
ORPHA:31204 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Gastrostomy tube feeding in infancy, Cachexia, Dysphagia |
ORPHA:300605 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Intestinal polyposis, Abnormal large intestine morphology, Cachexia, Narrow palate, Hamartomatous... |
ORPHA:109 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Episodic abdominal pain, Nausea, Weight loss |
ORPHA:276621 |
| Riddle Syndrome |
|
Pneumonia, Abdominal pain, Diarrhea, Recurrent pneumonia, Weight loss, Arthritis, Otitis media, R... |
ORPHA:420741 |
| Diffuse Alveolar Hemorrhage |
|
Weight loss |
ORPHA:90060 |
| Insulin-Resistance Syndrome Type B |
|
Skin rash, Abnormality of body weight, Pneumonia, Osteoarthritis, Increased body weight, Weight l... |
ORPHA:2298 |
| Adrenocortical Carcinoma |
|
Abdominal pain, Increased body weight, Weight loss |
ORPHA:1501 |
| Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Anorexia, Abdominal pain, Malabsorption, Weight loss |
ORPHA:79430 |
| Hereditary Late-Onset Parkinson Disease |
|
Chronic constipation, Dysphagia, Weight loss |
ORPHA:411602 |
| Chronic Graft Versus Host Disease |
|
Fasciitis, Anorexia, Abdominal pain, Urinary bladder inflammation, Esophageal stricture, Diarrhea... |
ORPHA:99921 |
| Frontometaphyseal Dysplasia 2 |
|
Feeding difficulties in infancy, Pyloric stenosis, Cleft palate, Ulcerative colitis, Gastroesopha... |
OMIM:617137 |
| Aredyld Syndrome |
|
Cachexia |
ORPHA:1133 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Acute pancreatitis, Anorexia, Reye syndrome-like episodes, Diarrhea, Weight loss, Episodic vomiting |
ORPHA:20 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Abdominal distention, Microcolon |
OMIM:619362 |
| Primary Myelofibrosis |
|
Cachexia, Anorexia |
ORPHA:824 |
| Addison Disease |
|
Nausea and vomiting, Anorexia, Abdominal pain, Celiac disease, Diarrhea, Weight loss, Constipatio... |
ORPHA:85138 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Gastroparesis, Intestinal pseudo-obstruction, Dysphagia, Weight loss |
OMIM:607459 |
| Parathyroid Carcinoma |
|
Nausea and vomiting, Peptic ulcer, Episodic abdominal pain, Weight loss, Constipation, Dysphagia,... |
ORPHA:143 |
| Thymic Neuroendocrine Tumor |
|
Weight loss |
ORPHA:97289 |
| Cystic Echinococcosis |
|
Abdominal symptom, Membranous nephropathy, Weight loss |
ORPHA:400 |
| Acute Adrenal Insufficiency |
|
Nausea and vomiting, Anorexia, Abdominal pain, Diarrhea, Weight loss, Constipation, Failure to th... |
ORPHA:95409 |
| X-Linked Intellectual Disability, Cabezas Type |
|
High palate, Obesity, Cachexia |
ORPHA:85293 |
| Renal Nutcracker Syndrome |
|
Abdominal pain, Nausea, Weight loss |
ORPHA:71273 |
| Igg4-Related Kidney Disease |
|
Pericarditis, Inflammatory abnormality of the skin, Abdominal pain, Lymphadenitis, Urinary bladde... |
ORPHA:449395 |
| Alveolar Echinococcosis |
|
Cholangitis, Abdominal pain, Weight loss, Vomiting, Decreased liver function, Cutaneous abscess |
ORPHA:284 |
| Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Episodic abdominal pain, Nausea, Weight loss |
ORPHA:29072 |
| Gerstmann-Straussler Disease |
|
Weight loss |
OMIM:137440 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Poor appetite, Nasogastric tube feeding in infancy, Weight loss, Feeding difficulties, High palat... |
ORPHA:2020 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Inflammation of the large intestine, Osteomyelitis, Obesity |
ORPHA:70591 |
| Erdheim-Chester Disease |
|
Nausea and vomiting, Osteomyelitis, Skin rash, Abdominal pain, Weight loss |
ORPHA:35687 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Short hard palate, Cachexia, Anorexia |
ORPHA:1969 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Failure to thrive in infancy, Celiac disease, High, narrow palate, Obesity, Thyroiditis, Gastroin... |
ORPHA:99413 |
| Turner Syndrome |
|
Failure to thrive in infancy, Celiac disease, High, narrow palate, Obesity, Thyroiditis, Gastroin... |
ORPHA:881 |
| Mosaic Monosomy X |
|
Failure to thrive in infancy, Celiac disease, High, narrow palate, Obesity, Thyroiditis, Gastroin... |
ORPHA:99228 |
| Monosomy X |
|
Failure to thrive in infancy, Celiac disease, High, narrow palate, Obesity, Thyroiditis, Gastroin... |
ORPHA:99226 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Xerostomia, Thyroiditis, Weight loss, Enlargement of parotid gland, Tubulointerstitial ... |
ORPHA:79078 |
| Multiple Endocrine Neoplasia Type 1 |
|
Duodenal ulcer, Peptic ulcer, Anorexia, Abdominal pain, Hematemesis, Diarrhea, Weight loss, Melen... |
ORPHA:652 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Weight loss |
ORPHA:747 |
| Nijmegen Breakage Syndrome |
|
Anal stenosis, Cachexia, Anorectal anomaly, Chronic diarrhea, Recurrent pneumonia, Cleft palate, ... |
ORPHA:647 |
| Trisomy 18 |
|
Cachexia, Esophageal atresia, Narrow palate, Cleft palate, Anal atresia |
ORPHA:3380 |
| Multiple Myeloma |
|
Functional abnormality of the gastrointestinal tract, Weight loss |
ORPHA:29073 |
| Fanconi Anemia |
|
Aganglionic megacolon, Aplasia/Hypoplasia of the uvula, Tracheoesophageal fistula, Cleft palate, ... |
ORPHA:84 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Ileal atresia, Abdominal distention, Peritonitis, Pyelonephritis, Microcolon |
OMIM:619351 |
| Oculopharyngodistal Myopathy 1 |
|
High palate, Dysphagia, Weight loss |
OMIM:164310 |
| Poems Syndrome |
|
Weight loss |
ORPHA:2905 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Skin rash, Cachexia |
ORPHA:220295 |
| Xfe Progeroid Syndrome |
|
Failure to thrive, Cachexia |
OMIM:610965 |
| Thyrotoxic Periodic Paralysis |
|
Constipation, Obesity, Weight loss |
ORPHA:79102 |
| Kikuchi-Fujimoto Disease |
|
Abnormality of the gastrointestinal tract, Skin rash, Anorexia, Pustule, Myocarditis, Weight loss... |
ORPHA:50918 |
| Familial Thrombocytosis |
|
Weight loss |
ORPHA:71493 |
| Dermatomyositis |
|
Pericarditis, Gastrointestinal stroma tumor, Feeding difficulties in infancy, Myocarditis, Weight... |
ORPHA:221 |
| Mucolipidosis Type Ii |
|
Protuberant abdomen, Gastrostomy tube feeding in infancy, Otitis media, Weight loss |
ORPHA:576 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Weight loss |
OMIM:613673 |
| Schwartz-Jampel Syndrome |
|
Cachexia, Feeding difficulties in infancy, Cleft palate, High palate, Decreased body weight |
ORPHA:800 |
| Cystinosis, Nephropathic |
|
Failure to thrive in infancy, Oral-pharyngeal dysphagia, Weight loss, Dysphagia, Exocrine pancrea... |
OMIM:219800 |
| Mowat-Wilson Syndrome |
|
Aganglionic megacolon, Bowel incontinence, Cleft hard palate, Pyloric stenosis, Gastrointestinal ... |
ORPHA:2152 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Weight loss |
ORPHA:99885 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Nongranulomatous uveitis, Anterior uveitis, Skin rash, Anorexia, Abdominal pain, Intermediate uve... |
ORPHA:91500 |
| Stickler Syndrome |
|
Cachexia, Feeding difficulties in infancy, Osteoarthritis, Short hard palate, Cleft palate, Uveit... |
ORPHA:828 |
| Seckel Syndrome |
|
Cachexia |
ORPHA:808 |
| Sarcoidosis |
|
Abnormality of the gastrointestinal tract, Maculopapular exanthema, Erythema nodosum, Bronchiecta... |
ORPHA:797 |
| Tsh-Secreting Pituitary Adenoma |
|
Nausea and vomiting, Vomiting, Weight loss |
ORPHA:91347 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Malignant gastrointestinal tract tumors, Acne, Neoplasm of the stomach, Anorexia, Diarrhea, Incre... |
ORPHA:99889 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Cachexia, Esophageal varix, Feeding difficulties, Gastric ulcer, Bacterial endocarditis |
ORPHA:2072 |
| African Trypanosomiasis |
|
Pericarditis, Keratitis, Myocarditis, Diarrhea, Weight loss, Vomiting, Optic neuritis, Conjunctiv... |
ORPHA:3385 |
| Pulmonary Alveolar Microlithiasis |
|
Bronchiectasis, Weight loss |
ORPHA:60025 |
| Marfan Syndrome |
|
Arthralgia/arthritis, Cachexia, High, narrow palate, Cleft palate, Slender build |
ORPHA:558 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Acne, Feeding difficulties, Weight loss, Vomiting, Failure to thrive |
ORPHA:90794 |
| Cockayne Syndrome |
|
Cachexia, Feeding difficulties in infancy, Keratoconjunctivitis sicca, Gastroesophageal reflux, M... |
ORPHA:191 |
| Hutchinson-Gilford Progeria Syndrome |
|
Osteoarthritis, Weight loss, High palate, Severe failure to thrive, Ankyloglossia |
ORPHA:740 |
| Camurati-Engelmann Disease |
|
Feeding difficulties in infancy, Slender build, Cachexia, Anorexia |
ORPHA:1328 |
| Choreoacanthocytosis |
|
Arthritis, Protruding tongue, Dysphagia, Weight loss |
ORPHA:2388 |
| Primary Fanconi Renotubular Syndrome |
|
Weight loss |
ORPHA:3337 |
| Goodpasture Syndrome |
|
Glomerulonephritis, Weight loss |
OMIM:233450 |
| Proteus Syndrome |
|
Cachexia |
ORPHA:744 |
| Tropical Endomyocardial Fibrosis |
|
Malnutrition, Cachexia |
ORPHA:75565 |
| Norrie Disease |
|
Failure to thrive, Cachexia |
ORPHA:649 |
