Inflammatory Bowel Disease 29 |
|
Crohn's disease, Ulcerative colitis |
OMIM:618077 |
Hyperlipoproteinemia, Type Id |
|
Failure to thrive, Colitis |
OMIM:615947 |
Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Inflammation of the large intestine, Growth delay, Abdominal pain, Weight loss, Intestinal obstru... |
OMIM:266600 |
Immunodeficiency, Common Variable, 11 |
|
Inflammation of the large intestine, Mucoid diarrhea, Growth delay, Failure to thrive, Decreased ... |
OMIM:615767 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Villous atrophy, Small for gestational age, Failure to thrive, Arthritis, Intractable diarrhea |
OMIM:613217 |
Inflammatory Bowel Disease 21 |
|
Ulcerative colitis |
OMIM:612354 |
Inflammatory Bowel Disease 3 |
|
Ulcerative colitis |
OMIM:604519 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Secretory diarrhea, Abdominal distention, Inflammation of the large intestine, Elevated fecal sodium |
OMIM:616868 |
Diarrhea 9 |
|
Failure to thrive, Diarrhea, Villous atrophy |
OMIM:618168 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Folliculitis, Pyoderma, Growth delay, Perianal abscess, Crohn's disease, Enterocolitis, Colitis, ... |
OMIM:613148 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Abnormal intestine morphology, Bloody diarrhea, Vomiting, Esophagitis, Duodenitis, Gastritis, Chr... |
OMIM:619079 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
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 (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Bloody diarrhea, Ulcerative colitis |
OMIM:619398 |
Ficolin 3 Deficiency |
|
Necrotizing enterocolitis |
OMIM:613860 |
Carcinoma Of Esophagus |
|
Dysphagia, Abnormal intestine morphology, Esophageal neoplasm, Weight loss, Barrett esophagus, Ob... |
ORPHA:70482 |
Inflammatory Bowel Disease 11 |
|
Inflammation of the large intestine, Weight loss, Diarrhea, Abdominal pain, Hematochezia |
OMIM:191390 |
Diarrhea 2, With Microvillus Atrophy |
|
Abnormal intestine morphology, Villous atrophy, Growth delay, Protracted diarrhea, Malnutrition |
OMIM:251850 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Vomiting, Abdominal distention, Abnormality of enteric ganglion morphology... |
OMIM:142623 |
5-Oxoprolinase Deficiency |
|
Diarrhea, Abdominal pain, Vomiting, Enterocolitis |
OMIM:260005 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Colitis |
ORPHA:88643 |
Visceral Myopathy 2 |
|
Dysphagia, Rectal prolapse, Megaduodenum, Intestinal pseudo-obstruction, Volvulus, Esophagitis, G... |
OMIM:619350 |
Secondary Short Bowel Syndrome |
|
Aganglionic megacolon, Villous atrophy, Abnormality of the small intestine, Vomiting, Growth dela... |
ORPHA:95427 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Decreased specific pneumococcal antibody level, Colitis, Minimal change glomerulonephritis |
OMIM:617006 |
Pseudomyxoma Peritonei |
|
Nausea and vomiting, Inflammation of the large intestine, Weight loss, Intestinal obstruction, Ab... |
ORPHA:26790 |
Immunodeficiency 37 |
|
Decreased circulating antibody level, Colitis, Infectious encephalitis |
OMIM:616098 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Folliculitis, Rectovaginal fistula, Perianal abscess, Enterocutaneous fistula, Enterocolitis |
OMIM:612567 |
Immunodeficiency 70 |
|
Decreased circulating total IgA, Decreased circulating total IgG, Celiac disease, Decreased circu... |
OMIM:618969 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
Diverticulosis, Small-Intestinal |
|
Duodenal diverticula, Jejunal diverticula, Rheumatoid arthritis, Thyroiditis, Jejunoileal diverti... |
OMIM:223320 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Villous atrophy, Vomiting, Failure to thrive, Diarrhea, Protein-losing enteropathy |
OMIM:615863 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Colitis, Perioral eczema, Recurrent aphthous stomatitis, Diarrhea, Recurrent sinusitis |
OMIM:613960 |
Trichohepatoenteric Syndrome 2 |
|
Villous atrophy, Intrauterine growth retardation, Small for gestational age, Failure to thrive, H... |
OMIM:614602 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Abnormal esophagus physiology, Dysphagia, Nausea and vomiting, Esophageal neoplasm, Abnormal larg... |
ORPHA:2198 |
Epidermolysis Bullosa Acquisita |
|
Inflammation of the large intestine, Abdominal pain |
ORPHA:46487 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Inflammation of the large intestine, Folliculitis, Decreased circulating antibody level, Hepatiti... |
OMIM:300635 |
Immunodeficiency 57 With Autoinflammation |
|
Inflammation of the large intestine, Bronchiectasis, Failure to thrive, Decreased circulating ant... |
OMIM:618108 |
Bare Lymphocyte Syndrome, Type Ii |
|
Cholangitis, Agammaglobulinemia, Villous atrophy, Infectious encephalitis, Failure to thrive, Pro... |
OMIM:209920 |
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
|
Dysphagia, Inflammation of the large intestine, Eczema, Failure to thrive, Decreased circulating ... |
OMIM:608809 |
Immunodeficiency 76 |
|
Chronic diarrhea, Colitis, Recurrent pneumonia, Growth delay |
OMIM:619164 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
Enterocolitis |
|
Abdominal distention, Ulcerative colitis, Hematochezia, Enterocolitis |
OMIM:226150 |
Immunodeficiency 84 |
|
B lymphocytopenia, Perianal abscess, Splenomegaly |
OMIM:619437 |
Immunodeficiency 14B, Autosomal Recessive |
|
Inflammation of the large intestine, Decreased circulating IgA level, Decreased circulating IgG l... |
OMIM:619281 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Intrauterine growth retardation, Decreased circulating antibody level, Postnatal growth retardati... |
OMIM:615190 |
Atresia Of Small Intestine |
|
Intrauterine growth retardation, Vomiting, Short stature, Failure to thrive, Feeding difficulties... |
ORPHA:1201 |
Diarrhea 11, Malabsorptive, Congenital |
|
Diarrhea, Villous atrophy |
OMIM:618662 |
Autoinflammatory Syndrome, Familial, Behcet-Like |
|
Colitis, Ileal ulcer, Skin rash, Anterior uveitis |
OMIM:616744 |
Agammaglobulinemia 8, Autosomal Dominant |
|
B lymphocytopenia |
OMIM:616941 |
Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Vomiting, Bronchiectasis, Dependency on parenteral nutrition, Abdominal distenti... |
OMIM:619445 |
Immunodeficiency 31C |
|
Abnormal intestine morphology, Eczema, Villous atrophy, Growth delay, Short stature, Chronic muco... |
OMIM:614162 |
Immunodeficiency 60 And Autoimmunity |
|
Bronchiectasis, Decreased circulating IgA level, Decreased circulating IgG level, Chronic diarrhe... |
OMIM:618394 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Lactose intolerance, Feeding difficulties in infancy, Abdominal pain, Eosinophilic microabscess f... |
ORPHA:411696 |
Autoinflammation With Infantile Enterocolitis |
|
Feeding difficulties in infancy, Villous atrophy, Short stature, Failure to thrive, Skin rash, En... |
OMIM:616050 |
Hereditary Central Diabetes Insipidus |
|
Growth delay, Polydipsia, Vomiting, Weight loss, Diarrhea |
ORPHA:30925 |
Esophagitis, Eosinophilic, 1 |
|
Failure to thrive, Dysphagia, Esophagitis, Vomiting |
OMIM:610247 |
Esophagitis, Eosinophilic, 2 |
|
Failure to thrive, Dysphagia, Esophagitis, Vomiting |
OMIM:613412 |
Linear Iga Dermatosis |
|
Inflammation of the large intestine |
ORPHA:46488 |
Congenital Short Bowel Syndrome |
|
Vomiting, Failure to thrive, Congenital shortened small intestine, Abnormal peristalsis, Intestin... |
OMIM:615237 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly |
OMIM:616452 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Bloody diarrhea, Villous atrophy, Erythroderma, Pustule, Failure to thrive, Duodenitis, Increased... |
OMIM:614328 |
Cernunnos-Xlf Deficiency |
|
B lymphocytopenia, Anemia, Lymphopenia, Thrombocytopenia, T lymphocytopenia |
ORPHA:169079 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Cystic acne, Sterile arthritis, Acne, Arthritis, Colitis |
OMIM:604416 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia |
OMIM:610021 |
Immunodeficiency 15A |
|
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... |
OMIM:618204 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, B lymphocytopenia |
OMIM:618987 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Decreased circulating antibody level, Colitis, Recurrent sinusitis |
OMIM:613101 |
Immunodeficiency 58 |
|
Dysphagia, Eczema, Decreased specific antibody response to vaccination, Allergic rhinitis, Helico... |
OMIM:618131 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Inflammation of the large intestine, Villous atrophy, Decreased specific antibody response to vac... |
OMIM:614700 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Mu-Heavy Chain Disease |
|
Abnormal B cell count, Osteoporosis, Anemia, Splenomegaly, Osteolysis |
ORPHA:100024 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Vomiting, Failure to thrive, Weight loss, Abdominal distention, Malabsorption, A... |
ORPHA:92050 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Atopic dermatitis, Short stature, Failure to thrive, Membranous nephropathy, Colonic eosinophilia... |
OMIM:618999 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Failure to thrive in infancy, Bronchiectasis, Increased circulating interleukin 8, Chronic diarrh... |
OMIM:301220 |
Immunodeficiency, Common Variable, 13 |
|
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia |
OMIM:616873 |
Proprotein Convertase 1/3 Deficiency |
|
Obesity, Diarrhea, Villous atrophy, Malabsorption |
OMIM:600955 |
Insulinomatosis And Diabetes Mellitus |
|
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus |
OMIM:147630 |
Immunodeficiency 72 With Autoinflammation |
|
Increased B cell count, Hepatosplenomegaly, Increased proportion of memory T cells |
OMIM:618982 |
Immunodeficiency 85 And Autoimmunity |
|
Failure to thrive in infancy, Eczema, Villous atrophy, Tube feeding, Erythroderma, Vomiting, Decr... |
OMIM:619510 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:601820 |
Gastroesophageal Reflux |
|
Barrett esophagus, Gastroesophageal reflux, Esophagitis, Esophageal neoplasm |
OMIM:109350 |
Central Diabetes Insipidus |
|
Nausea and vomiting, Anorexia, Polydipsia, Failure to thrive, Weight loss, Diarrhea |
ORPHA:178029 |
Immunodeficiency 13 |
|
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased CD... |
OMIM:615518 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Villous atrophy, Vomiting, Failure to thrive, Hepatic failure, Diarrhea, Protein-losing enteropathy |
OMIM:602579 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased circulating IgA level, Interstitial pneumonitis, Ulcerative colitis, Decreased circulat... |
OMIM:614878 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Inflammation of the large intestine, Weight loss, Acne, Arthritis, Palmo... |
ORPHA:324964 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent infection of the gastrointestinal tract, Pneumonia, Stomatitis, Lymphadenitis, Failure ... |
ORPHA:911 |
Pyoderma Gangrenosum |
|
Inflammation of the large intestine, Pustule, Myositis, Increased circulating antibody level, Rhe... |
ORPHA:48104 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Abnormality of serum cytokine level, Increased circulating interleukin 6, Erythroderma, Infectiou... |
ORPHA:540 |
Amoebiasis Due To Entamoeba Histolytica |
|
Constrictive pericarditis, Bloody diarrhea, Gastrointestinal dysmotility, Protracted diarrhea, Ac... |
ORPHA:67 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Abnormal intestine morphology, Eczema, Tubulointerstitial nephritis, Hepatitis, Gastritis, Inflam... |
ORPHA:37042 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... |
ORPHA:231154 |
Shigellosis |
|
Myocarditis, Failure to thrive in infancy, Bloody mucoid diarrhea, Tenesmus, Bloody diarrhea, Vom... |
ORPHA:810 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Failure to thrive, Inflammation of the large intestine |
OMIM:617718 |
Cystinosis |
|
Short stature, Vomiting, Failure to thrive, Polydipsia, Malabsorption, Delayed puberty |
ORPHA:213 |
Netherton Syndrome |
|
Abnormal intestine morphology, Allergic rhinitis, Villous atrophy, Erythroderma, Failure to thriv... |
OMIM:256500 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
B lymphocytopenia, T lymphocytopenia |
OMIM:601457 |
Autoimmune Hepatitis |
|
Inflammation of the large intestine, Hepatocellular carcinoma, Glomerulonephritis, Sclerosing cho... |
ORPHA:2137 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased B cell count, Decreased proportion of class-switched memory B cells, Splenomegaly, Incr... |
OMIM:615559 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Eczema, Short stature, Lymphadenitis, Crohn's disease, Perianal abscess, Anal fissure, Acute panc... |
OMIM:618935 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hypoglycemia |
OMIM:261650 |
Whipple Disease |
|
Myocarditis, Cachexia, Anorexia, Pericarditis, Infectious encephalitis, Polydipsia, Myositis, Mal... |
ORPHA:3452 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
B lymphocytopenia, T lymphocytopenia, Lymphopenia |
ORPHA:277 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Abscess, Splenomegaly, Intermittent throm... |
OMIM:150550 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Keratoconjunctivitis sicca, Growth delay, Colitis, Weight loss, Abdominal distention, Steatorrhea... |
ORPHA:309031 |
Sweet Syndrome |
|
Increased circulating interleukin 6, Inflammation of the large intestine, Predominantly dermal ne... |
ORPHA:3243 |
Omenn Syndrome |
|
B lymphocytopenia, Hypoplasia of the thymus, Anemia, Splenomegaly, Severe B lymphocytopenia, Thro... |
OMIM:603554 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Inflammation of the large intestine, Intrauterine growth retardation, Esophageal varix, Growth de... |
OMIM:614576 |
Hermansky-Pudlak Syndrome 1 |
|
Inflammation of the large intestine, Abdominal pain, Hematochezia, Colitis |
OMIM:203300 |
Immunodeficiency 68 |
|
B lymphocytopenia, Abscess, T lymphocytopenia, Abnormal natural killer cell count |
OMIM:612260 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Feeding difficulties in infancy, Short stature, Vomiting, Failure to thrive, Polydipsia, Constipa... |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Feeding difficulties in infancy, Short stature, Vomiting, Failure to thrive, Polydipsia, Constipa... |
OMIM:304800 |
Estrogen Resistance |
|
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia, Osteopenia |
OMIM:615363 |
Cyclic Neutropenia |
|
Sinusitis, Peritonitis, Periodontitis, Perianal abscess, Otitis media, Recurrent skin infections,... |
ORPHA:2686 |
Sapho Syndrome |
|
Psoriasiform dermatitis, Inflammation of the large intestine, Pustule, Synovitis, Acne, Malabsorp... |
ORPHA:793 |
Septo-Optic Dysplasia Spectrum |
|
Cleft palate, Short stature, Polydipsia, Esophageal atresia, Tracheoesophageal fistula, Obesity, ... |
ORPHA:3157 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eczema, Villous atrophy, Erythroderma, Failure to thrive, Hepatitis, Arthritis, Chronic diarrhea,... |
OMIM:304790 |
Iga Pemphigus |
|
Pustule, Increased circulating IgA level, Neutrophilic infiltration of the skin, Monoclonal eleva... |
ORPHA:555905 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Pancytopenia, Hypoglycemia |
OMIM:617872 |
Immunodeficiency, Common Variable, 1 |
|
B lymphocytopenia, Decreased proportion of class-switched memory B cells, Splenomegaly, Neutropen... |
OMIM:607594 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Psoriasiform dermatitis, Inflammation of the large intestine, Hip osteoarthritis, Oligoarthritis,... |
OMIM:106300 |
Thymoma |
|
Myositis, Neoplasm of the gastrointestinal tract, Weight loss, Decreased circulating antibody lev... |
ORPHA:99867 |
Immunodeficiency 82 With Systemic Inflammation |
|
Duodenal ulcer, Hepatitis, Gastritis, Crohn's disease, Decreased circulating total IgM, Diarrhea,... |
OMIM:619381 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased proportion of memory B cells, B lymphocytopenia |
ORPHA:70593 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Inflammatory abnormality of the skin, Abnormal intestine morphology, Eczema, Villous atrophy, Inf... |
ORPHA:391487 |
Microvillus Inclusion Disease |
|
Abdominal distention, Diarrhea, Villous atrophy, Abnormality of small intestinal villus morphology |
ORPHA:2290 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Bloody diarrhea, Rectal prolapse, Vomiting, Peritonitis, Acute colitis, Intestinal perforation, P... |
ORPHA:90038 |
Refractory Celiac Disease |
|
Jejunitis, Inflammatory abnormality of the skin, Villous atrophy, Weight loss, Malabsorption, Chr... |
ORPHA:398063 |
Sepsis In Premature Infants |
|
Increased circulating interleukin 6, Small for gestational age, Vomiting, Functional abnormality ... |
ORPHA:90051 |
Visceral Myopathy 1 |
|
Dysphagia, Aganglionic megacolon, Megaduodenum, Vomiting, Intestinal pseudo-obstruction, Abdomina... |
OMIM:155310 |
Primary Intestinal Lymphangiectasia |
|
Growth delay, Increased stool alpha1-antitrypsin concentration, Functional abnormality of the gas... |
ORPHA:90362 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... |
OMIM:603909 |
Congenital Disorder Of Glycosylation, Type Id |
|
High palate, Villous atrophy, Vomiting, Failure to thrive, Bifid uvula, Diarrhea |
OMIM:601110 |
Zygomycosis |
|
Sinusitis, Myocarditis, Colon perforation, Fasciitis, Hepatitis, Melena, Gastritis, Gastrointesti... |
ORPHA:73263 |
Infection-Related Hemolytic Uremic Syndrome |
|
Myocarditis, Bloody diarrhea, Increased circulating interleukin 6, Gastrointestinal infarctions, ... |
ORPHA:544482 |
Agammaglobulinemia 1, Autosomal Recessive |
|
B lymphocytopenia, Neutropenia |
OMIM:601495 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Bloody diarrhea, Failure to thrive, Increased circulating IgG level, Eosinophilic infiltration of... |
OMIM:618213 |
Nephrogenic Diabetes Insipidus |
|
Nausea and vomiting, Anorexia, Growth delay, Short stature, Polydipsia, Failure to thrive, Feedin... |
ORPHA:223 |
Syndromic Diarrhea |
|
Bloody diarrhea, Villous atrophy, Intrauterine growth retardation, Small for gestational age, Sho... |
ORPHA:84064 |
Toxic Epidermal Necrolysis |
|
Nausea and vomiting, Dysphagia, Polydipsia, Weight loss, Intestinal perforation, Malabsorption, P... |
ORPHA:537 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
B lymphocytopenia, T lymphocytopenia |
ORPHA:217390 |
Reactive Arthritis |
|
Inflammation of the large intestine, Pericarditis, Pustule, Weight loss, Arthritis, Osteomyelitis... |
ORPHA:29207 |
Adult Acute Respiratory Distress Syndrome |
|
Increased circulating interleukin 6, Pneumonia, Pancreatitis, Abnormal serum interleukin level, A... |
ORPHA:70578 |
Acute Lung Injury |
|
Abnormality of serum cytokine level, Increased circulating interleukin 6, Pneumonia, Acute pancre... |
ORPHA:178320 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Fasting hypoglycemia, Hypoglycemia, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis, H... |
OMIM:262190 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
B lymphocytopenia, Neutropenia, Leukopenia, Abnormally low T cell receptor excision circle level,... |
OMIM:618986 |
Bardet-Biedl Syndrome 9 |
|
Obesity, Polydipsia, Polyphagia, Truncal obesity |
OMIM:615986 |
Familial Cold Urticaria |
|
Nausea and vomiting, Polydipsia, Arthritis, Abdominal pain, Conjunctivitis |
ORPHA:47045 |
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form |
|
Postnatal growth retardation, Feeding difficulties, Esophagitis, Gastroesophageal reflux |
ORPHA:79350 |
Macrophage Activation Syndrome |
|
Increased circulating interleukin 6, Hepatitis, Increased inflammatory response, Decreased liver ... |
ORPHA:158061 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Necrotizing enterocolitis, Gastroesophageal reflux, Episodic vomiting |
OMIM:201475 |
Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia, Splenomegaly |
ORPHA:664 |
Acquired Central Diabetes Insipidus |
|
Weight loss, Polydipsia |
ORPHA:95626 |
Kindler Epidermolysis Bullosa |
|
Dysphagia, Inflammation of the large intestine, Cheilitis, Abnormality of the anus, Esophagitis, ... |
ORPHA:2908 |
Type 1 Diabetes Mellitus |
|
Polyphagia, Polydipsia |
OMIM:222100 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... |
OMIM:619313 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Psoriasiform dermatitis, Failure to thrive in infancy, Eczema, Villous atrophy, Erythroderma, Dec... |
OMIM:606367 |
Osteootohepatoenteric Syndrome |
|
Villous atrophy, Ileoileal intussusception, Episodic vomiting, Failure to thrive, Weight loss, In... |
OMIM:619377 |
Immunodeficiency 92 |
|
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... |
OMIM:619652 |
Idiopathic Hypereosinophilic Syndrome |
|
Inflammatory abnormality of the skin, Cholangitis, Dysphagia, Eczema, Feeding difficulties in inf... |
ORPHA:3260 |
Nephronophthisis-Like Nephropathy 2 |
|
Polydipsia, Bronchiectasis |
OMIM:619468 |
Wolfram Syndrome |
|
Feeding difficulties in infancy, Gastric ulcer, Polydipsia, Malabsorption, Gastrointestinal hemor... |
ORPHA:3463 |
Pediatric-Onset Graves Disease |
|
Nausea and vomiting, Intrauterine growth retardation, Episcleritis, Polyphagia, Polydipsia, Failu... |
ORPHA:525731 |
Renal Glucosuria |
|
Polyphagia, Polydipsia |
OMIM:233100 |
Autoimmune Lymphoproliferative Syndrome |
|
Neoplasm of the tongue, Hepatocellular carcinoma, Glomerulonephritis, Increased circulating IgA l... |
ORPHA:3261 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Inflammation of the large intestine, Growth delay, Hepatocellular carcinoma, Short stature, Failu... |
ORPHA:79259 |
Senior-Loken Syndrome 1 |
|
Polydipsia |
OMIM:266900 |
Sandifer Syndrome |
|
Feeding difficulties, Esophagitis, Hiatus hernia, Hematemesis, Gastroesophageal reflux, Episodic ... |
ORPHA:71272 |
Ochoa Syndrome |
|
Polydipsia, Bowel incontinence, Constipation |
ORPHA:2704 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
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Inflammation of the large intestine, Interface hepatitis, Granulomatous cholangitis, Increased ci... |
ORPHA:562639 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
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Sinusitis, Eczema, Inflammation of the large intestine, Pneumonia, Increased circulating IgA leve... |
OMIM:600903 |
Primary Sclerosing Cholangitis |
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Neoplasm of the gallbladder, Cholangiocarcinoma, Celiac disease, Hepatocellular carcinoma, Abnorm... |
ORPHA:171 |
Mody |
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Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperglycemia, Glucose intole... |
ORPHA:552 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
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B lymphocytopenia, Reduced red cell adenosine deaminase level, Splenomegaly, Aplasia of the thymu... |
OMIM:102700 |
Vulvovaginal Gingival Syndrome |
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Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
Congenital Factor Xiii Deficiency |
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Inflammation of the large intestine, Hepatic failure |
ORPHA:331 |
Senior-Loken Syndrome 4 |
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Polydipsia |
OMIM:606996 |
Proximal Renal Tubular Acidosis |
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Mild postnatal growth retardation, Growth delay, Short stature, Vomiting, Failure to thrive, Poly... |
ORPHA:47159 |
Combined Oxidative Phosphorylation Deficiency 41 |
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Anemia, Hypoglycemia |
OMIM:618838 |
Cocaine Intoxication |
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Bloody diarrhea, Tubulointerstitial nephritis, Gastrointestinal infarctions, Vomiting, Nausea, In... |
ORPHA:90068 |
Familial Hyperaldosteronism Type I |
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Polydipsia, Nausea |
ORPHA:403 |
X-Linked Lymphoproliferative Disease |
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Myocarditis, Inflammation of the large intestine, Decreased circulating IgA level, Increased circ... |
ORPHA:2442 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
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Recurrent hypoglycemia, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Severe B lym... |
ORPHA:293978 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
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Abnormal B cell count, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Abnormal... |
ORPHA:331206 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
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Hypoglycemia, Diabetes mellitus, Glycosuria, Rickets |
OMIM:616026 |
Gitelman Syndrome |
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Growth delay, Vomiting, Polydipsia, Failure to thrive, Salt craving, Delayed puberty, Abdominal p... |
OMIM:263800 |
Immunodeficiency 87 And Autoimmunity |
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Cleft palate, Villous atrophy, Intrauterine growth retardation, Small for gestational age, Growth... |
OMIM:619573 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
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Nausea and vomiting, Abdominal distention, Intestinal malrotation, Hypoperistalsis, Abnormality o... |
ORPHA:2241 |
Familial Hyperaldosteronism Type Iii |
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Polydipsia, Nausea |
ORPHA:251274 |
Parenteral Nutrition-Associated Cholestasis |
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Villous atrophy, Small for gestational age, Abnormality of cytokine secretion, Hepatic failure, A... |
ORPHA:567983 |
Hyperparathyroidism, Neonatal Severe |
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Failure to thrive, Polydipsia, Feeding difficulties in infancy, Constipation |
OMIM:239200 |
Parathyroid Carcinoma |
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Nausea and vomiting, Dysphagia, Peptic ulcer, Polydipsia, Weight loss, Pancreatitis, Episodic abd... |
ORPHA:143 |
Apparent Mineralocorticoid Excess |
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Failure to thrive, Polydipsia, Intrauterine growth retardation, Short stature |
ORPHA:320 |
Wiskott-Aldrich Syndrome |
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Eczema, Inflammation of the large intestine, Increased circulating IgA level, Recurrent otitis me... |
OMIM:301000 |
Plague |
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Bloody diarrhea, Inflammation of the large intestine, Anorexia, Vomiting, Endocarditis, Lymphaden... |
ORPHA:707 |
Meconium Ileus |
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Meconium ileus, Microcolon |
OMIM:614665 |
Bardet-Biedl Syndrome 17 |
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Obesity, Polydipsia |
OMIM:615994 |
Orthostatic Hypotension 2 |
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Hypoglycemia |
OMIM:618182 |
Sarcoidosis, Susceptibility To, 1 |
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Abnormal salivary gland morphology, Inflammation of the large intestine, Anorexia, Bronchiectasis... |
OMIM:181000 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
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Hepatic failure, Microcolon, Intestinal malrotation |
OMIM:619431 |
Microcolon |
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Microcolon |
OMIM:251400 |
Diabetes Insipidus, Neurohypophyseal, X-Linked |
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Polydipsia |
OMIM:304900 |
Brain-Lung-Thyroid Syndrome |
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Abnormal drinking behavior, Growth delay, Short stature, Failure to thrive, Abnormal eating behav... |
ORPHA:209905 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
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Polydipsia, Nausea |
ORPHA:369929 |
Frontometaphyseal Dysplasia 2 |
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Pyloric stenosis, Feeding difficulties in infancy, High palate, Cleft palate, Bifid uvula, Delaye... |
OMIM:617137 |
Autosomal Recessive Polycystic Kidney Disease |
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Cholangitis, Esophageal varix, Cholangiocarcinoma, Growth delay, Polydipsia, Feeding difficulties... |
ORPHA:731 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
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B lymphocytopenia, Neutropenia, Leukopenia, Bone marrow hypocellularity, Anemia, Lymphopenia, Ret... |
ORPHA:508542 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Absent natural kil... |
ORPHA:35078 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
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Psoriasiform dermatitis, Oligoarthritis, Sacroiliac arthritis, Anterior uveitis, Iridocyclitis, U... |
ORPHA:85436 |
Wiskott-Aldrich Syndrome |
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Sinusitis, Eczema, Inflammation of the large intestine, Chronic otitis media, Arthritis, Keratiti... |
ORPHA:906 |
Hyperparathyroidism-Jaw Tumor Syndrome |
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Nausea and vomiting, Dysphagia, Peptic ulcer, Polydipsia, Pancreatitis, Episodic abdominal pain, ... |
ORPHA:99880 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
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Pyloric stenosis, Abnormality of exocrine pancreas physiology, Arthritis, Polydipsia |
ORPHA:93111 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
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B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis, Sideroblastic anemia, Splenomegaly |
OMIM:616084 |
Distal Renal Tubular Acidosis |
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Growth delay, Vomiting, Short stature, Failure to thrive, Polydipsia, Poor appetite, Diarrhea, Co... |
ORPHA:18 |
Primary Unilateral Adrenal Hyperplasia |
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Polydipsia, Nausea |
ORPHA:231580 |
Rabson-Mendenhall Syndrome |
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High palate, Intrauterine growth retardation, Severe postnatal growth retardation, Short stature,... |
ORPHA:769 |
Infantile Nephropathic Cystinosis |
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Growth delay, Polydipsia, Vomiting, Failure to thrive, Constipation |
ORPHA:411629 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Infectious encephalitis, Celiac disease, Short stature, Gastrointestinal dysmotility, Feeding dif... |
ORPHA:293987 |
Renal Hypoplasia |
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Polydipsia, Small for gestational age |
ORPHA:93101 |
Cystinosis, Nephropathic |
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Dysphagia, Failure to thrive in infancy, Growth delay, Short stature, Polydipsia, Oral-pharyngeal... |
OMIM:219800 |
Chronic Thromboembolic Pulmonary Hypertension |
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Obesity, Inflammation of the large intestine, Osteomyelitis |
ORPHA:70591 |
Helix Syndrome |
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Xerostomia, Polydipsia |
OMIM:617671 |
Trichohepatoenteric Syndrome 1 |
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Villous atrophy, Intrauterine growth retardation, Small for gestational age, Short stature, Failu... |
OMIM:222470 |
East Syndrome |
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Salt craving, Polydipsia |
ORPHA:199343 |
Teratoma, Pineal |
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Polydipsia |
OMIM:273120 |
Senior-Boichis Syndrome |
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Esophageal varix, Polydipsia |
ORPHA:84081 |
Nephronophthisis 4 |
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Growth delay, Polydipsia |
OMIM:606966 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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High, narrow palate, Failure to thrive in infancy, High palate, Inflammation of the large intesti... |
ORPHA:99413 |
Turner Syndrome |
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High, narrow palate, Failure to thrive in infancy, High palate, Inflammation of the large intesti... |
ORPHA:881 |
Mosaic Monosomy X |
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High, narrow palate, Failure to thrive in infancy, High palate, Inflammation of the large intesti... |
ORPHA:99228 |
Monosomy X |
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High, narrow palate, Failure to thrive in infancy, High palate, Inflammation of the large intesti... |
ORPHA:99226 |
Hypomagnesemia 3, Renal |
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Failure to thrive, Feeding difficulties in infancy, Abdominal pain, Polydipsia |
OMIM:248250 |
Panhypophysitis |
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Hashimoto thyroiditis, Poor appetite, Polydipsia, Nausea |
ORPHA:95513 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
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B lymphocytopenia, Osteopenia, Reduced natural killer cell count, Decreased proportion of CD4-pos... |
ORPHA:221139 |
Erdheim-Chester Disease |
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Nausea and vomiting, Polydipsia, Weight loss, Osteomyelitis, Skin rash, Abdominal pain |
ORPHA:35687 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
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Peritonitis, Abdominal distention, Ileal atresia, Pyelonephritis, Microcolon |
OMIM:619351 |
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance |
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Salt craving, Polydipsia, Short stature |
OMIM:612780 |
Juvenile Nephropathic Cystinosis |
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Growth delay, Vomiting, Polydipsia, Failure to thrive, Feeding difficulties, Poor appetite |
ORPHA:411634 |
Pituitary Dermoid And Epidermoid Cysts |
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Oligospermia, Nausea and vomiting, Polydipsia |
ORPHA:91351 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
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Abdominal distention, Microcolon |
OMIM:619362 |
Oligomeganephronia |
|
Polydipsia, Small for gestational age |
ORPHA:2260 |
Nephronophthisis 1 |
|
Growth delay, Polydipsia |
OMIM:256100 |
Alg12-Cdg |
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Recurrent hypoglycemia, Thrombocytopenia, B lymphocytopenia, Abnormal bone ossification |
ORPHA:79324 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
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Aganglionic megacolon, Ileus, Microcolon, Abdominal pain, Constipation |
ORPHA:163746 |
Gitelman Syndrome |
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Nausea and vomiting, Tubulointerstitial nephritis, Polydipsia, Failure to thrive, Gout, Salt crav... |
ORPHA:358 |
Nephronophthisis 11 |
|
Growth delay, Polydipsia |
OMIM:613550 |
Hyperaldosteronism, Familial, Type Iii |
|
Polydipsia |
OMIM:613677 |
Nijmegen Breakage Syndrome |
|
B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Autoimmune hemolytic anemia |
OMIM:251260 |
Bartter Syndrome, Type 2, Antenatal |
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Small for gestational age, Vomiting, Failure to thrive, Short stature, Polydipsia, Diarrhea, Cons... |
OMIM:241200 |
Senior-Loken Syndrome 3 |
|
Polydipsia |
OMIM:606995 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Absent circulating B cells |
OMIM:307200 |
Nephronophthisis 3 |
|
Polydipsia |
OMIM:604387 |
Mowat-Wilson Syndrome |
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Pyloric stenosis, Dysphagia, Aganglionic megacolon, Cleft palate, Growth delay, Vomiting, Short s... |
ORPHA:2152 |
Alg9-Cdg |
|
Villous atrophy, Vomiting, Rhizomelia, Bifid uvula, Diarrhea, Gastroesophageal reflux |
ORPHA:79328 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Coronal craniosynostosis, B lymphocytopenia, Severe B lymphocytopenia |
ORPHA:83617 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Colon perforation, Intrauterine growth retardation, Failure to thrive, Intestinal malrotation, Mi... |
OMIM:600001 |