Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Ulcerative colitis, Bloody d... |
OMIM:619398 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Villous atrophy, Malnutrition, Dehydration, Protracted diarrhea, Abnormal intestine morphology |
OMIM:251850 |
Lactose Intolerance, Adult Type |
|
Lactose intolerance, Flatulence, Abdominal pain, Decreased small intestinal mucosa lactase level,... |
OMIM:223100 |
Reticular Dysgenesis |
|
Skin rash, Abnormality of neutrophils, Malabsorption, Diarrhea, Dehydration, Leukopenia, Chronic ... |
ORPHA:33355 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Polyhydramnios, Abdominal distention, Secretory diarrhea, Inflammation of the large intestine, El... |
OMIM:616868 |
Lactase Deficiency, Congenital |
|
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level, Dehydration |
OMIM:223000 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Chronic diarrhea, Recurrent pneumonia, Monocytosis, Inflammation of t... |
OMIM:619281 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Nausea and vomiting, Anorexia, Abdominal pain, Splenomegaly, Hyperammonemia, Feeding difficulties... |
ORPHA:79312 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Ed... |
ORPHA:103910 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Nausea and vomiting, Hyperammonemia, Dehydration, Lethargy, Anemia |
ORPHA:28 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Acne, Recurrent skin infections, Erythema no... |
OMIM:300635 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... |
OMIM:615237 |
Hyperlysinuria With Hyperammonemia |
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Dibasicaminoaciduria, Malabsorption, Hyperammonemia, Hyperlysinuria, Lethargy, Hyperlysinemia |
OMIM:238750 |
5-Oxoprolinase Deficiency |
|
Abdominal pain, Diarrhea, Enterocolitis, Increased level of L-pyroglutamic acid in urine, Vomitin... |
OMIM:260005 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Eosinophilia, Elevated circulating C-reactive protein ... |
ORPHA:2070 |
Immunodeficiency 76 |
|
Splenomegaly, Chronic diarrhea, Recurrent pneumonia, T lymphocytopenia, Colitis, B lymphocytopeni... |
OMIM:619164 |
Immunodeficiency, Common Variable, 11 |
|
Inflammation of the large intestine, Mucoid diarrhea, Crohn's disease, Decreased proportion of cl... |
OMIM:615767 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Intestinal perforation, Rectal prolapse, Dehydration, Bloody diarrhea, Vomiting, Acute colitis, H... |
ORPHA:90038 |
Angioedema, Hereditary, 8 |
|
Edema of the dorsum of hands, Facial edema, Abdominal pain, Diarrhea, Laryngeal edema, Angioedema... |
OMIM:619367 |
Autosomal Agammaglobulinemia |
|
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Malabsorption, Diarrhea, Bronchie... |
ORPHA:33110 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Eosinophilia, Chronic diarrhea, Atopic dermatitis, Ulcerative colitis, Bronchiectasis,... |
OMIM:617638 |
Shigellosis |
|
Anorexia, Intestinal perforation, Abnormal blood ion concentration, Uveitis, Bloody diarrhea, Par... |
ORPHA:810 |
Isovaleric Acidemia |
|
Pancytopenia, Hyperglycinuria, Dehydration, Leukopenia, Vomiting, Lethargy, Thrombocytopenia |
OMIM:243500 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Nausea and vomiting, Macrocytic anemia, Hyperammonemia, Dehydration, Anemia, Leukopenia, Lethargy... |
ORPHA:27 |
Propionic Acidemia |
|
Pancytopenia, Eczema, Poor appetite, Feeding difficulties in infancy, Hyperglycinuria, Hyperammon... |
OMIM:606054 |
Immunodeficiency 104 |
|
Pneumonia, Eczema, Splenomegaly, Diarrhea, Chronic mucocutaneous candidiasis, T lymphocytopenia, ... |
OMIM:608971 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Colitis, Increased CD4:CD8 ratio, Min... |
OMIM:617006 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pancytopenia, Acne, Elevated circulating C-reactive protein concentration, Microcytic anemia, Hep... |
OMIM:604416 |
Autoinflammation With Infantile Enterocolitis |
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Villous atrophy, Pancytopenia, Skin rash, Elevated circulating C-reactive protein concentration, ... |
OMIM:616050 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Inflammation of the large i... |
OMIM:266600 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Edema, Cryptorchidism, Abdominal distention, Diarrhea, Elevated circulating creatinine concentrat... |
OMIM:608104 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-los... |
OMIM:619079 |
Enteric Anendocrinosis |
|
Diarrhea, Vomiting, Dehydration, Malabsorption |
ORPHA:83620 |
Central Diabetes Insipidus |
|
Hyponatremia, Nausea and vomiting, Anorexia, Diarrhea, Dehydration, Depression, Lethargy |
ORPHA:178029 |
Immunodeficiency 57 With Autoinflammation |
|
Gastritis, Skin rash, Perianal abscess, Diarrhea, Bronchiectasis, T lymphocytopenia, Inflammation... |
OMIM:618108 |
Trehalase Deficiency |
|
Abdominal pain, Malabsorption, Abdominal distention, Diarrhea, Vomiting |
ORPHA:103909 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Elevated proportion of C... |
OMIM:619802 |
Folate Malabsorption, Hereditary |
|
Folate-responsive megaloblastic anemia, Malabsorption, Feeding difficulties in infancy, Diarrhea,... |
OMIM:229050 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Anorexia, Poor appetite, Nausea, Abno... |
ORPHA:2494 |
Severe Canavan Disease |
|
Oral-pharyngeal dysphagia, Gastrostomy tube feeding in infancy, Feeding difficulties, Gastroesoph... |
ORPHA:314911 |
Chronic Hiccup |
|
Malnutrition, Dehydration, Depression |
ORPHA:396 |
Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
Pseudomyxoma Peritonei |
|
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Inflammation of the large intestine,... |
ORPHA:26790 |
Inflammatory Bowel Disease 13 |
|
Inflammation of the large intestine |
OMIM:612244 |
Inflammatory Bowel Disease (Crohn Disease) 19 |
|
Inflammation of the large intestine |
OMIM:612278 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Intestinal obstruction, Autoimmune he... |
OMIM:243150 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg... |
OMIM:613101 |
Solitary Rectal Ulcer Syndrome |
|
Anal fissure, Abdominal pain, Rectal prolapse, Stercoral ulcer, Episodic abdominal pain, Hematoch... |
ORPHA:209964 |
Dihydropyrimidinase Deficiency |
|
Elevated circulating dihydrouracil concentration, Elevated circulating uracil concentration, Feed... |
OMIM:222748 |
Diarrhea 4, Malabsorptive, Congenital |
|
Diarrhea, Vomiting, Dehydration |
OMIM:610370 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Anterior uveitis, Skin rash, Colitis, Ileal ulcer, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hyperammonemia, Dehydration, Leukopenia, Tubulointerstitial nephritis, Vo... |
OMIM:251000 |
Inflammatory Bowel Disease 29 |
|
Ulcerative colitis, Crohn's disease |
OMIM:618077 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Feeding difficulties in infancy, Diarrhea, Generalized aminoaciduria, Abnormal intestine morpholo... |
OMIM:606528 |
Coproporphyria, Hereditary |
|
Increased fecal coproporphyrin III:coproporphyrin I ratio, Increased fecal coproporphyrin 3, Abdo... |
OMIM:121300 |
Combined Malonic And Methylmalonic Aciduria |
|
Diarrhea, Vomiting, Dehydration |
OMIM:614265 |
Early Myoclonic Encephalopathy |
|
Lethargy, Feeding difficulties, Poor suck, Dysphagia |
ORPHA:1935 |
Glucose/Galactose Malabsorption |
|
Malabsorption, Abdominal distention, Hyperactive bowel sounds, Chronic diarrhea, Hypertonic dehyd... |
OMIM:606824 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Villous atrophy, Anorexia, Reticulocytopenia, Hydrops fetalis, Dehydration,... |
OMIM:557000 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Colitis, Pyoderma, Crohn's disease |
OMIM:613148 |
Epidermolysis Bullosa Acquisita |
|
Inflammation of the large intestine, Abdominal pain |
ORPHA:46487 |
Amoebiasis Due To Entamoeba Histolytica |
|
Intestinal obstruction, Acute colitis, Liver abscess, Lung abscess, Abdominal pain, Leukocytosis,... |
ORPHA:67 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Immunodeficiency 60 And Autoimmunity |
|
Pancytopenia, Splenomegaly, Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Colitis, Decrea... |
OMIM:618394 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Eczema, Pure red cell a... |
ORPHA:436159 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Villous atrophy, Abdominal colic, Hyperlipidemia, Diarrhea, Protein-losing enteropathy, Hypoalbum... |
OMIM:615863 |
Classic Galactosemia |
|
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Abnormal eryth... |
ORPHA:79239 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Abnormal large intestine morphology, Poor appet... |
ORPHA:2198 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Genital edema, Eczema, Feeding difficulties in infancy, Increased T cell count, Chronic diarrhea,... |
ORPHA:98813 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Skin rash, Abdominal pain, Diarrhea, Leukopenia... |
ORPHA:99828 |
Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Pancytopenia, Feeding difficulties in infancy, Hyperammonemia, Dehydratio... |
OMIM:251110 |
Immunodeficiency 70 |
|
Furuncle, Celiac disease, Colitis, B lymphocytopenia, Recurrent sinusitis, Decreased proportion o... |
OMIM:618969 |
Hemochromatosis, Type 2A |
|
Hypogonadotropic hypogonadism, Splenomegaly, Increased circulating ferritin concentration, Arthri... |
OMIM:602390 |
Combined Malonic And Methylmalonic Acidemia |
|
Dicarboxylic acidemia, Methylmalonic acidemia, Dehydration, Vomiting, Intermittent diarrhea, Naso... |
ORPHA:289504 |
Immunodeficiency 37 |
|
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Infectious ence... |
OMIM:616098 |
Ficolin 3 Deficiency |
|
Necrotizing enterocolitis |
OMIM:613860 |
Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Edema, Abdominal pain, Abnormal gastric mucosa morphology, I... |
ORPHA:263665 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Skin rash, Elevated circulating C-reactive protein concentration, Abdominal pa... |
OMIM:301074 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Abnormality of neutrophil... |
ORPHA:229717 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Vomiting, Dehydration, Decreased circulating ca... |
ORPHA:79159 |
Rabies |
|
Nausea and vomiting, Diarrhea, Anorexia, Depression |
ORPHA:770 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting |
OMIM:142623 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Cryptorchidism, Hyperhomocystinemia, Feeding difficult... |
OMIM:614857 |
Inflammatory Bowel Disease 3 |
|
Ulcerative colitis |
OMIM:604519 |
Inflammatory Bowel Disease 21 |
|
Ulcerative colitis |
OMIM:612354 |
Inflammatory Bowel Disease 11 |
|
Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain |
OMIM:191390 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Intestinal obstruction, Edema, Malabsorption, Abdominal pain, Diarrhea, Iron deficiency anemia, A... |
OMIM:226300 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Polyhydramnios, Pustule, Recurrent pneumonia, Secretory diarrhea, Dehydration, Vomiting |
OMIM:616069 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Nausea and vomiting, Hyperammonemia, Anemia, Neutropenia, Lethargy, Pancreatitis, Thrombocytopenia |
ORPHA:289916 |
Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Poor appetite, Abdomina... |
ORPHA:319218 |
Trehalase Deficiency |
|
Diarrhea, Abdominal pain |
OMIM:612119 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
Intestinal Dysmotility Syndrome |
|
Projectile vomiting, Polyhydramnios, Abdominal distention, Diarrhea, Decreased intestinal transit... |
OMIM:620045 |
Sucrase-Isomaltase Deficiency, Congenital |
|
Abdominal pain, Diarrhea, Malabsorption |
OMIM:222900 |
Alpha-Methylacetoacetic Aciduria |
|
Vomiting, Dehydration |
OMIM:203750 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased HDL cholesterol concentration, Intestinal perforation, Tubulointerstitial nephritis, Ga... |
ORPHA:85450 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Dyspepsia, Abnormal small intestinal mucosa morphology, Abdominal pain, Malabsorption, Decreased ... |
ORPHA:103907 |
Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Skin rash, Recurrent pn... |
OMIM:617585 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Uveitis, Inflammation of the large intestine, Colitis, Conju... |
OMIM:614700 |
Immunodeficiency 40 |
|
Rectal fistula, Chronic diarrhea, Recurrent pneumonia, Eosinophilic granuloma, T lymphocytopenia,... |
OMIM:616433 |
Necrotizing Enterocolitis |
|
Hyponatremia, Edema, Abdominal distention, Leukocytosis, Diarrhea, Peritonitis, Bloody diarrhea, ... |
ORPHA:391673 |
Immunodeficiency 69 |
|
Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration... |
OMIM:618963 |
Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Abdominal pain, Se... |
OMIM:619377 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Poor appetite, Elevated circulating C-reactive prot... |
ORPHA:324964 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Maculopapular exanthema, Anorexia, Malabsorption, Hype... |
ORPHA:98850 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Eosinophilia, Pneumo... |
ORPHA:911 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Secretory diarrhea, Abnormal blood ion concentration, Iron deficiency anemia, Tubuloint... |
ORPHA:37042 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Hyponatremia, Nausea and vomiting, Eosi... |
ORPHA:199299 |
Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Anorexia, Malabsorption, Abdominal pain, Splenomegaly, Diarrhea, Lymphedema... |
ORPHA:2930 |
Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Pancytopenia, Feeding difficulties in infancy, Hyperammonemia, Dehydratio... |
OMIM:251100 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Pancytopenia, Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Vomi... |
OMIM:617872 |
Carnitine Deficiency, Systemic Primary |
|
Elevated circulating creatine kinase concentration, Diarrhea, Hyperammonemia, Dehydration, Vomiti... |
OMIM:212140 |
Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Glomerulonephritis, Abdominal pain, Splenomegaly, F... |
ORPHA:2137 |
Homocystinuria Without Methylmalonic Aciduria |
|
Lethargy, Vomiting |
ORPHA:622 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Sideroblastic anemia, Lethargy, Dysphagia |
OMIM:613561 |
Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Lethargy, Episodic vomiting, Feeding difficulties |
OMIM:618224 |
Methylmalonic Acidemia With Homocystinuria |
|
Lethargy, Skin rash, Feeding difficulties |
ORPHA:26 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Neonatal death, Feeding difficulties in infancy, Lethargy, Edema |
OMIM:610498 |
Preeclampsia |
|
Helicobacter pylori infection, Abdominal pain, Elevated circulating creatinine concentration, Pol... |
ORPHA:275555 |
Typhoid |
|
Gastrointestinal hemorrhage, Skin rash, Abdominal pain, Splenomegaly, Diarrhea, Constipation, Let... |
ORPHA:99745 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic acidemia, Pancytopenia, Skin rash, Homocystinuria, Megaloblastic anemia, Thrombocyt... |
OMIM:277380 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anorexia, Malabsorption, Abdominal pain, Diarrhea, Xerostomia, Hamartomatous polyposis, Hematoche... |
OMIM:175500 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis, Hypoalbuminemia |
ORPHA:88643 |
Beta-Ketothiolase Deficiency |
|
Anorexia, Edema, Leukocytosis, Diarrhea, Hyperammonemia, Dehydration, Vomiting, Hyperuricemia, Ap... |
ORPHA:134 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Acute pancreatitis, Anorexia, Edema, Reye syndrome-like episodes, Leukocytosis, Diarrhea, Hyperam... |
ORPHA:20 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Chronic mucocutaneous candidiasis, ... |
OMIM:209920 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Cryptorchidism, Dehydration, Dysphagia |
OMIM:618958 |
Cyclic Vomiting Syndrome |
|
Anorexia, Abdominal pain, Gastrointestinal dysmotility, Vomiting, Lethargy, Nausea |
OMIM:500007 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Lethargy, Anorexia |
ORPHA:79283 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Osteomyelitis, Microcytic anemia, Abnormal... |
ORPHA:232 |
Relapsing Fever |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Abdominal pain, Leukocytosis... |
ORPHA:91547 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... |
OMIM:612567 |
Secretory Component Deficiency |
|
Chronic intestinal candidiasis, Intermittent diarrhea |
OMIM:269650 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Increased fecal coproporphyrin 3, Abdominal pain, Abnormal erythrocyte enzyme level... |
ORPHA:100924 |
Trichohepatoenteric Syndrome 2 |
|
Villous atrophy, Decreased serum iron, Diarrhea, Chronic diarrhea, Bloody diarrhea, Chronic hepat... |
OMIM:614602 |
Chylomicron Retention Disease |
|
Diarrhea, Malnutrition, Accumulation of lipid droplets in small-bowel enterocytes, Decreased LDL ... |
OMIM:246700 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Acute hyperammonemia, Poor appetite, Reye syndrome-like episodes, Hyperglutaminemia, Diarrhea, Hy... |
ORPHA:927 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Anorexia, Megaloblastic anemia, Diarrhea, Lethargy, Thrombocytopenia |
ORPHA:49827 |
Idiopathic Congenital Hypothyroidism |
|
Feeding difficulties in infancy, Facial edema, Macroglossia, Constipation, Lethargy, Neonatal hyp... |
ORPHA:95717 |
Microvillus Inclusion Disease |
|
Villous atrophy, Abdominal distention, Diarrhea, Dehydration, Abnormal small intestinal villus mo... |
ORPHA:2290 |
Cholesteryl Ester Storage Disease |
|
Nausea and vomiting, Hypertriglyceridemia, Splenomegaly, Diarrhea, Esophageal varix, Hypercholest... |
ORPHA:75234 |
Hypercalcemia, Infantile, 1 |
|
Lethargy, Vomiting, Hypercalcemia, Dehydration |
OMIM:143880 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Anal fissure, Eczema, Abscess, Perianal abscess, Splenomega... |
OMIM:618935 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Abnormality of the gastrointestinal tract, Small intestinal dysmotility, Hypogonadotropic hypogon... |
ORPHA:298 |
Citrullinemia Type I |
|
Hyperammonemia, Feeding difficulties, Gastroesophageal reflux, Vomiting, Elevated plasma citrulli... |
ORPHA:247525 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Necrotizing enterocolitis, Elevated circulating creatine kinase concentration, Polyhydramnios, Ab... |
OMIM:616809 |
Vipoma |
|
Anorexia, Poor appetite, Secretory diarrhea, Dehydration, Benign gastrointestinal tract tumors, E... |
ORPHA:97282 |
N-Acetylglutamate Synthase Deficiency |
|
Lethargy, Hyperglutamatemia, Vomiting, Hyperammonemia |
OMIM:237310 |
Refractory Celiac Disease |
|
Normocytic anemia, Villous atrophy, Macrocytic anemia, Inflammatory abnormality of the skin, Mala... |
ORPHA:398063 |
Hirschsprung Disease |
|
Intestinal polyposis, Nausea and vomiting, Intestinal obstruction, Aganglionic megacolon, Abdomin... |
ORPHA:388 |
Developmental And Epileptic Encephalopathy 92 |
|
Lethargy, Feeding difficulties |
OMIM:617829 |
Linear Iga Dermatosis |
|
Inflammation of the large intestine |
ORPHA:46488 |
Lysosomal Acid Lipase Deficiency |
|
Bone-marrow foam cells, Vacuolated lymphocytes, Dehydration, Vomiting, Hyponatremia, Abdominal pa... |
ORPHA:275761 |
Cyclic Neutropenia |
|
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Abdominal pain, Perianal abscess, Perit... |
ORPHA:2686 |
Developmental And Epileptic Encephalopathy 40 |
|
Lethargy, Feeding difficulties |
OMIM:617065 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Anorexia, Odynophagia, Uveitis, Bloody diarrh... |
ORPHA:99826 |
Diarrhea 9 |
|
Villous atrophy, Diarrhea |
OMIM:618168 |
Cystinosis |
|
Malabsorption, Dehydration, Aminoaciduria, Hypokalemia, Vomiting, Hypophosphatemia |
ORPHA:213 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Normocytic anemia, Hypomethioninemia, Methylmalonic acidemia, Megaloblastic anemia, Hyperhomocyst... |
OMIM:236270 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Acute hepatic failure, Hyperammonemia, Dehydration, Iron deficiency anemia, Hypoalb... |
ORPHA:1667 |
Netherton Syndrome |
|
Hypernatremic dehydration, Villous atrophy, Recurrent skin infections, Eczema, Allergic rhinitis,... |
OMIM:256500 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Abdominal pain, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hema... |
OMIM:174900 |
Glycine Encephalopathy 1 |
|
Hyperglycinemia, Hyperglycinuria, Lethargy |
OMIM:605899 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Lethargy, Feeding difficulties |
ORPHA:26792 |
Methylmalonyl-Coa Epimerase Deficiency |
|
Gastroesophageal reflux, Elevated circulating palmitoleylcarnitine concentration, Dehydration, Hy... |
OMIM:251120 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cholangiocarcinoma, Hypogonadotropic hypogonadism, Abdominal pain, Splenomegaly, Increased circul... |
ORPHA:465508 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Feeding difficulties in infancy, Diarrhea, Hyperkalemia, Dehydration, Vomiting |
OMIM:264350 |
Cholera |
|
Hyponatremia, Achlorhydria, Abdominal pain, Diarrhea, Abnormal blood ion concentration, Dehydrati... |
ORPHA:173 |
Pontocerebellar Hypoplasia, Type 6 |
|
Narrow palate, Feeding difficulties, Gastroesophageal reflux, Lethargy, Poor suck |
OMIM:611523 |
Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Abdominal pain, Diarrhea, Microangiopathic hemolytic anemia, Decreased serum cre... |
ORPHA:54057 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Elevated circulating creatine kinase concentration, Hyperamylasemia, Anorexia, Aminoaciduria, Hyp... |
OMIM:619386 |
Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Microvillus inclusions, Abdominal distention, Secretory diarrhea, Bronchiectasis... |
OMIM:619445 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Pancytopenia, Elevated circulating creatine kinase concentration, Splenomegaly, Chronic diarrhea,... |
OMIM:614576 |
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
|
Protein avoidance, Low plasma citrulline, Cerebral edema, Hyperammonemia, Episodic ammonia intoxi... |
OMIM:237300 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Eczema, Autoimmune thro... |
OMIM:616100 |
Sweet Syndrome |
|
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn... |
ORPHA:3243 |
Dopamine Beta-Hydroxylase Deficiency |
|
Diarrhea, Elevated circulating creatinine concentration, Dehydration, Retrograde ejaculation, Rhi... |
ORPHA:230 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... |
ORPHA:247585 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Pneumonia, Abdominal pain, Recurrent skin ... |
ORPHA:486 |
Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Edema, Increa... |
ORPHA:36234 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Polyhydramnios, Abdominal distention, Secretory diarrhea, Elevated stool chloride c... |
OMIM:214700 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Diarrhea, Hyperkalemia, Dehydration, Feeding difficulties, Increased circulating re... |
OMIM:177735 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Increased stool alpha1-antitrypsin concentration, Edema, Abdominal pain, Pericar... |
ORPHA:90362 |
Immunodeficiency 27A |
|
Increased inflammatory response, Pneumonia, Anorexia, Splenomegaly, Leukocytosis, Diarrhea, Hepat... |
OMIM:209950 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, Esophageal stricture, Pancolitis, Inflammation of the large intestine, B lymphocyto... |
OMIM:620133 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Diarrhea, Abnormal T cell morphology, Absent circulating B cells, Neutropenia, Recurrent otitis m... |
OMIM:613501 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Abnormal erythrocyte morphology, Lethargy |
ORPHA:71277 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Elevated circulating C-reactive protein concentration, Recurrent pneumonia, Decreased ... |
OMIM:617718 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated circulating creatine kinase concentration, Eczema, Abdominal pain, Splenomegaly, Leukocy... |
OMIM:615895 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Chronic diarrhea, Leukopenia, Neutr... |
OMIM:615285 |
Gaba-Transaminase Deficiency |
|
Lethargy, Feeding difficulties |
OMIM:613163 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Eosinophilia, Atopic dermatitis, Hepatosplenomegaly, Membranous ... |
OMIM:618999 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Anorexia, Abnormality of the spleen, Abnormality of the parathy... |
ORPHA:2552 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Decreased proportion of naive T cells, Elevated circulating C-reactive protein c... |
OMIM:619381 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Elevated circulating branched chain amino acid concentration, Hyperammonemia, Feeding difficultie... |
ORPHA:2394 |
Holocarboxylase Synthetase Deficiency |
|
Nausea and vomiting, Eczema, Anorexia, Hyperammonemia, Keratoconjunctivitis, Lethargy, Thrombocyt... |
ORPHA:79242 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Elevated circulating creatinine concentration, Gout, Hyperuricemia, Neutropenia, Anemia |
OMIM:617056 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Increased serum pyruvate, Lethargy, Decreased liver function, Feeding difficulties |
OMIM:246900 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Intractable diarrhea, Arthritis, Villous atrophy, Crypt hyperplasia |
OMIM:613217 |
Diarrhea 11, Malabsorptive, Congenital |
|
Villous atrophy, Diarrhea |
OMIM:618662 |
Thyroid Dyshormonogenesis 1 |
|
Macroglossia, Constipation, Lethargy, Goiter |
OMIM:274400 |
Glut1 Deficiency Syndrome 1 |
|
Lethargy, Paroxysmal lethargy |
OMIM:606777 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Polyhydramnios, Malnutrition, Feeding difficulties, Gastroesophageal reflux, Intermittent diarrhe... |
OMIM:619971 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Necrotizing enterocolitis, Elevated circulating creatine kinase concentration, Hyperammonemia, Ga... |
OMIM:201475 |
Hereditary Central Diabetes Insipidus |
|
Lethargy, Diarrhea, Vomiting |
ORPHA:30925 |
Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Lethargy |
OMIM:618573 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hypertriglyceridemia, Maculopapular exanthema, Skin rash, Splenomegaly, Increased circulating fer... |
ORPHA:540 |
Infection-Related Hemolytic Uremic Syndrome |
|
Edema, Intestinal perforation, Secretory diarrhea, Bloody diarrhea, Gastrointestinal infarctions,... |
ORPHA:544482 |
Netherton Syndrome |
|
Skin rash, Eczema, Malabsorption, Dehydration, Aminoaciduria, Erythroderma |
ORPHA:634 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Autoimmune hemolytic anemia, Sinusitis, Skin rash, Chronic hepatitis due to cryptos... |
ORPHA:572 |
Transient Neonatal Diabetes Mellitus |
|
Macroglossia, Dehydration |
ORPHA:99886 |
Familial Thyroid Dyshormonogenesis |
|
Feeding difficulties in infancy, Facial edema, Macroglossia, Constipation, Lethargy, Abnormal cir... |
ORPHA:95716 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Episodic vomiting, Vomiting, Lethargy, Dysphagia |
OMIM:618226 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Osteomyelitis, Feeding difficulties in infancy, Pustule, Hyperkalemia, Atopic derma... |
ORPHA:171876 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death, Vomiting, Decreased liver function, Dehydration |
OMIM:602199 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Hypomethioninemia, Skin rash, Megaloblastic anemia, Cleft palate, Hyperhomocystinemia, Elevated c... |
ORPHA:79284 |
Immunodeficiency 48 |
|
Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Diarrhea, Eczematoid dermatitis |
OMIM:269840 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg... |
ORPHA:411696 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Diarrhea, Vomiting |
OMIM:605911 |
Sepsis In Premature Infants |
|
Elevated circulating C-reactive protein concentration, Edema, Thrombocytopenia, Leukocytosis, Gas... |
ORPHA:90051 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Chronic oral candidiasis, Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenom... |
OMIM:150550 |
Immunodeficiency 85 And Autoimmunity |
|
Tube feeding, Villous atrophy, Eczema, Chronic diarrhea, Oligoarthritis, T lymphocytopenia, Vomit... |
OMIM:619510 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Dehydration |
OMIM:601410 |
Familial Cold Urticaria |
|
Nausea and vomiting, Abdominal pain, Dehydration, Arthritis, Conjunctivitis |
ORPHA:47045 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Leukopenia, Esophageal stenosis, Colitis |
OMIM:615190 |
Cap Polyposis |
|
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Colorectal poly... |
ORPHA:160148 |
Colchicine Poisoning |
|
Hyponatremia, Myocarditis, Leukocytosis, Diarrhea, Abnormal blood ion concentration, Dehydration,... |
ORPHA:31824 |
Cystic Fibrosis |
|
Male infertility, Meconium ileus, Rectal prolapse, Ileus, Recurrent pneumonia, Bronchiectasis, Di... |
OMIM:219700 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Anorexia, Hepatosplenomegaly, Decreased mean corpuscular volum... |
OMIM:611590 |
Esophagitis, Eosinophilic, 2 |
|
Vomiting, Eosinophilia, Esophagitis, Dysphagia |
OMIM:613412 |
Esophagitis, Eosinophilic, 1 |
|
Vomiting, Eosinophilia, Esophagitis, Dysphagia |
OMIM:610247 |
Glucose-Galactose Malabsorption |
|
Hypercalcemia, Abdominal distention, Diarrhea, Malnutrition, Hyperactive bowel sounds, Dehydratio... |
ORPHA:35710 |
Hjv Or Hamp-Related Hemochromatosis |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Impotence, Hypogon... |
ORPHA:79230 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Increased serum pyruvate, Lethargy, Vomiting |
OMIM:618225 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Protein avoidance, Hyperammonemia, Hyperornithinemia, Decreased liver function, Acute hepatitis, ... |
OMIM:238970 |
Pyoderma Gangrenosum |
|
Myositis, Pustule, Inflammation of the large intestine, Rheumatoid arthritis, Myeloid leukemia |
ORPHA:48104 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Hyponatremia, Myositis, Pericarditis, Anorexia, Malabsorption, Abdom... |
ORPHA:3452 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Feeding difficulties in infancy, Hyperkalemia, Dehydration, Increased circulating r... |
OMIM:203400 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Interstitial pneumonitis, Enterocolitis, Ulcerative colitis, Decreased proportion of class-switch... |
OMIM:614878 |
Staphylococcal Necrotizing Pneumonia |
|
Neutrophilia, Pneumonia, Elevated circulating C-reactive protein concentration, Leukocytosis, Acu... |
ORPHA:36238 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Lethargy, Hyperphenylalaninemia, Dysphagia |
OMIM:233910 |
Methylcobalamin Deficiency Type Cble |
|
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Feeding difficulties, In... |
ORPHA:2169 |
Congenital Sucrase-Isomaltase Deficiency |
|
Abdominal distention, Abdominal colic, Vomiting, Diarrhea |
ORPHA:35122 |
Sapho Syndrome |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Malabsorption, Abdominal pain, Pustule, ... |
ORPHA:793 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Bradykinesia, Lethargy, Constipation, Feeding difficulties |
ORPHA:101150 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Malabsorption, Chroni... |
ORPHA:47 |
Lethal Infantile Mitochondrial Myopathy |
|
Lethargy, Fatal liver failure in infancy |
ORPHA:254857 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Lethargy |
OMIM:613710 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Lethargy, Herpes simplex encephalitis |
OMIM:617900 |
Familial Mediterranean Fever |
|
Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, Abdominal pain... |
OMIM:249100 |
Immunodeficiency 19 |
|
Chronic diarrhea, T lymphocytopenia, Abnormal B cell morphology, Recurrent otitis media, Abnormal... |
OMIM:615617 |
Autoinflammatory-Pancytopenia Syndrome |
|
Pancytopenia, Membranoproliferative glomerulonephritis, Intestinal inflammation, Chilblains, Chro... |
OMIM:619858 |
Bile Acid Malabsorption, Primary, 1 |
|
Increased fecal bile acid, Fat malabsorption, Chronic diarrhea, Steatorrhea |
OMIM:613291 |
American Trypanosomiasis |
|
Aganglionic megacolon, Skin rash, Abnormal large intestine physiology, Abdominal pain, Edema, Spl... |
ORPHA:3386 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Edema, Diarrhea, Protein-losing enteropathy, Hypoalbuminemia, Decrea... |
ORPHA:79319 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow... |
OMIM:278000 |
Pancreatic Colipase Deficiency |
|
Megaloblastic anemia, Chronic diarrhea, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine ... |
ORPHA:309108 |
Cirrhosis, Familial |
|
Abdominal distention, Fulminant hepatitis, Esophageal varix, Increased level of propylene glycol ... |
OMIM:215600 |
Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Eczema, Abdominal pain, Celiac disease, Abdominal distention, Diarrhea, Thyroi... |
OMIM:212750 |
Renal Failure, Progressive, With Hypertension |
|
Nephritis, Elevated circulating creatinine concentration |
OMIM:161900 |
Diarrhea 6 |
|
Chronic diarrhea, Crohn's disease, Abdominal pain |
OMIM:614616 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Diarrhea, T lymphocytopenia, Arthritis, B lymphocytopenia, Conjunct... |
OMIM:601457 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Hypomagnesemia, Leukocytosis, H... |
ORPHA:94093 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Elevated circulating C-reactive protein concentration, Abdominal pain, Diarrhea, Colitis, Anoperi... |
OMIM:613960 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, L... |
ORPHA:470 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Diarrhea, Hyperammonemia, Decreased plasma to... |
ORPHA:42 |
Galactosemia I |
|
Hemolytic anemia, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Diarrhea, Incr... |
OMIM:230400 |
Zygomycosis |
|
Fasciitis, Sinusitis, Periorbital edema, Acute infectious pneumonia, Unusual gastrointestinal inf... |
ORPHA:73263 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Thrombocy... |
OMIM:304790 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Colonic diverticula, Elevated circulating deoxyuridine concentration, Intestinal pseudo-obstructi... |
OMIM:603041 |
Riboflavin Deficiency |
|
Elevated circulating acylcarnitine concentration, Lethargy, Poor suck |
OMIM:615026 |
Immunodeficiency 83, Susceptibility To Viral Infections |
|
Lethargy, Herpes simplex encephalitis |
OMIM:613002 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hematemesis, Splenomegaly, Pancreatic cysts, Esophageal varix, Dehydration, Neonatal death, Oligo... |
OMIM:263200 |
Secondary Intestinal Lymphangiectasia |
|
Edema, Lymphedema, Intestinal bleeding, Hypoalbuminemia, Vomiting, Hypocholesterolemia, Constrict... |
ORPHA:90363 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Inflammation of the large intestine, Periodontitis, Anemia, Irregular menstruation, Hepatocellula... |
ORPHA:79259 |
Vascular Hyalinosis |
|
Hematochezia, Diarrhea, Protein-losing enteropathy, Malabsorption |
OMIM:277175 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Lethargy |
OMIM:274270 |
Multiple Endocrine Neoplasia Type 1 |
|
Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Dehydration,... |
ORPHA:652 |
Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Splenomegaly, Diarrhea, Recurrent pneumonia, Neutropenia in presence of anti-neutropil... |
OMIM:607594 |
Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Diarrhea, Reticulocytopenia, Vomiting, Neu... |
OMIM:275350 |
Pediatric Systemic Lupus Erythematosus |
|
Abnormality of the gastrointestinal tract, Myositis, Skin rash, Edema, Abdominal pain, Discoid lu... |
ORPHA:93552 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Hydrops fetalis, Dehydration, Hypocalcemia... |
ORPHA:699 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Diarrhea, Anteriorly ... |
OMIM:615710 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Eosinophilia, Anorexia, Pneumonia, Diarrhea, Recurrent pneumonia, Hepatitis, Erythroderma, Hepato... |
ORPHA:169160 |
3-Methylglutaconic Aciduria, Type Viib |
|
Polyhydramnios, Recurrent pneumonia, Neutropenia, Dehydration, Feeding difficulties, Leukopenia, ... |
OMIM:616271 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Dehydration, Increased circulating renin level, Vomiting |
OMIM:620126 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hydrops fetalis, Hyperammonemia,... |
ORPHA:79282 |
Idiopathic Hypereosinophilic Syndrome |
|
Cholangitis, Feeding difficulties in infancy, Colitis, Vomiting, Neutrophilia, Abdominal pain, Le... |
ORPHA:3260 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated circulating creatine kinase concentration, Diarrhea, Hyperammonemia, Feeding difficultie... |
OMIM:255120 |
Brunner Syndrome |
|
Diarrhea |
OMIM:300615 |
Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Inflammation of the large intestine... |
ORPHA:906 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Cryptorchidism, Recurrent pneumonia, Dehydration |
OMIM:214150 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypokalemia, Vomiting, Dehydration |
OMIM:602722 |
Alg8-Cdg |
|
Abnormality of the gastrointestinal tract, Hyponatremia, Edema, Diarrhea, Hydrops fetalis, Feedin... |
ORPHA:79325 |
Immunodeficiency 46 |
|
Intermittent thrombocytopenia, Chronic diarrhea, Neutropenia, Conjunctivitis, Chronic oral candid... |
OMIM:616740 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Abdominal distention, Leukocytosis, Chronic diarrhea, Bronchiectasis, Gastroesophageal reflux, Vo... |
OMIM:620233 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Polyhydramni... |
OMIM:155310 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Nonimmune hydro... |
OMIM:619313 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Malabsorption, Splenomegaly, Diarrhea, Bile duct proliferation, Increased serum bile acid concent... |
OMIM:602347 |
Immunodeficiency 92 |
|
Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Chronic diarrhea, Decreased proportion of cl... |
OMIM:619652 |
Idiopathic Intracranial Hypertension |
|
Lethargy, Vomiting, Nausea, Depression |
ORPHA:238624 |
Maple Syrup Urine Disease |
|
Elevated circulating branched chain amino acid concentration, Feeding difficulties in infancy, Vo... |
OMIM:248600 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Bradykinesia, Lethargy |
OMIM:618683 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Abdominal pain, Abnormality of the spleen, Diarrhea, Malnutrition, V... |
ORPHA:79456 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Sinusitis, Diarrhea, Recurrent pneumonia, T lymphocytopenia... |
ORPHA:277 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Dehydration, Feeding difficulties, Vomiting, Increased circulating re... |
ORPHA:556030 |
Leukoencephalopathy With Vanishing White Matter 1 |
|
Lethargy, Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea |
OMIM:603896 |
Febrile Infection-Related Epilepsy Syndrome |
|
Lethargy, Sinusitis |
ORPHA:163703 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Villous atrophy, Edema, Diarrhea, Vomiting, Protein-losing enteropathy, Hypoalbuminemia, Steatorr... |
OMIM:602579 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Lethargy, Vomiting, Elevated circulating creatine kinase concentration, Hyperammonemia |
OMIM:600649 |
Hyperprolinemia Type 2 |
|
Abdominal pain, Diarrhea, Hyperprolinemia, Feeding difficulties, Depression, Hyperglycinemia, Pro... |
ORPHA:79101 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Peptic ulcer, Eosinophilia, Abdominal pa... |
ORPHA:98849 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Inflammatory abnormality of the skin, Elevated circulating creatine kinase concentration, Pneumon... |
ORPHA:26793 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Skin rash, Glomerulonephritis, Elevated circulating creatinine concentration, Synovitis, Arthriti... |
ORPHA:567544 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Pneumonia, Malabsorption, Protruding tongue, Diarrhea, Bronchiectasis, Macroglossia, T... |
OMIM:242860 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Elevated circulating creatinine concentration, Oligohydramnios, Feeding difficulties |
OMIM:616733 |
Genetic Transient Congenital Hypothyroidism |
|
Increased circulating thyroglobulin level, Edema, Feeding difficulties, Macroglossia, Constipatio... |
ORPHA:226316 |
Chylomicron Retention Disease |
|
Hypertriglyceridemia, Acanthocytosis, Abdominal distention, Diarrhea, Steatorrhea, Vomiting, Hypo... |
ORPHA:71 |
Autoimmune Lymphoproliferative Syndrome |
|
Hydrops fetalis, Uveitis, Colitis, Lymphocytosis, Increased B cell count, Elevated proportion of ... |
ORPHA:3261 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration... |
ORPHA:54251 |
Glycogen Storage Disease Ib |
|
Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Hyperlipidemia, Gout, Inflammation o... |
OMIM:232220 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Giant cell hepatitis, Conjugated hyperbilirubinemia, Splenomegaly, Diarrhea, Acholic stools, Stea... |
OMIM:607765 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Lethargy, Vomiting |
OMIM:618228 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Eczema, Eosinophilia, Keratitis, Chronic diarrhea, Bronchiectasis, Macroglossia, Recurrent otitis... |
OMIM:618523 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
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Villous atrophy, Autoimmune hemolytic anemia, Inflammatory abnormality of the skin, Eczema, Autoi... |
ORPHA:391487 |
Hereditary Folate Malabsorption |
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Nausea and vomiting, Pancytopenia, Eosinophilia, Anorexia, Megaloblastic anemia, Diarrhea, Cheili... |
ORPHA:90045 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Decreased circulating free fatty acid level, Lethargy, Feeding difficulties, Increased C-peptide ... |
ORPHA:276556 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated circulating creatine kinase concentration, Feeding difficulties in infancy, Diarrhea, El... |
OMIM:608836 |
Snakebite Envenomation |
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Hyponatremia, Edema, Diarrhea, Angioedema, Neuromuscular dysphagia, Pseudobulbar paralysis, Vomit... |
ORPHA:449285 |
Agammaglobulinemia 6, Autosomal Recessive |
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Diarrhea, Recurrent pneumonia, Abnormal T cell morphology, Conjunctivitis, B lymphocytopenia, Rec... |
OMIM:612692 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
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Neutrophilia, Skin rash, Elevated circulating C-reactive protein concentration, Abdominal pain, L... |
OMIM:617099 |
Biotinidase Deficiency |
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Skin rash, Recurrent skin infections, Seborrheic dermatitis, Feeding difficulties in infancy, Spl... |
OMIM:253260 |
Immunodeficiency 58 |
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Helicobacter pylori infection, Recurrent cutaneous abscess formation, Eczema, Allergic rhinitis, ... |
OMIM:618131 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
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Intestinal obstruction, Fasciitis, Myositis, Pericarditis, Elevated circulating C-reactive protei... |
ORPHA:32960 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
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Gastrointestinal hemorrhage, Normocytic anemia, Skin rash, Pneumonia, Elevated circulating creati... |
ORPHA:247691 |
Evans Syndrome |
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Lethargy, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Auto... |
ORPHA:1959 |
Renal Hypoplasia, Bilateral |
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Hyponatremia, Edema, Cryptorchidism, Hyperkalemia, Feeding difficulties, Lethargy, Anemia, Oligoh... |
ORPHA:97362 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
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Diarrhea, Vomiting, Dehydration |
OMIM:560000 |
Pancreatic Triacylglycerol Lipase Deficiency |
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Edema, Abdominal pain, Abdominal distention, Diarrhea, Iron deficiency anemia, Keratoconjunctivit... |
ORPHA:309031 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
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Poor appetite, Splenomegaly, Diarrhea, Decreased serum zinc, Hypogonadism, Lethargy, Decreased te... |
OMIM:201100 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
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Conjugated hyperbilirubinemia, Splenomegaly, Diarrhea, Hepatocellular carcinoma, Fat malabsorption |
OMIM:601847 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
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Giant cell hepatitis, Conjugated hyperbilirubinemia, Dehydration, Aminoaciduria, Thrombocytopenia... |
OMIM:208085 |
Congenital Toxoplasmosis |
|
Thrombocytopenia, Diarrhea, Ascites, Anemia |
ORPHA:858 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
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Decreased circulating free fatty acid level, Lethargy, Feeding difficulties, Increased C-peptide ... |
ORPHA:276575 |
Glucagonoma |
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Anorexia, Poor appetite, Lack of bowel sounds, Acanthocytosis, Episodic abdominal pain, Depressio... |
ORPHA:97280 |
Proprotein Convertase 1/3 Deficiency |
|
Villous atrophy, Hypogonadotropic hypogonadism, Malabsorption, Diarrhea, Primary amenorrhea |
OMIM:600955 |
Graft Versus Host Disease |
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Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ab... |
ORPHA:39812 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
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Increased inflammatory response, Skin rash, Poor appetite, Diarrhea, Elevated circulating creatin... |
ORPHA:542323 |
Immunodeficiency 17 |
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Chronic oral candidiasis, Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD8-positi... |
OMIM:615607 |
Hyperinsulinism Due To Hnf1A Deficiency |
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Decreased circulating free fatty acid level, Lethargy, Feeding difficulties, Increased C-peptide ... |
ORPHA:324575 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Lethargy, Aminoaciduria, Feeding difficulties |
OMIM:250620 |
Satoyoshi Syndrome |
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Diarrhea, Amenorrhea, Mildly elevated creatine kinase, Malabsorption |
OMIM:600705 |
Immunodeficiency 91 And Hyperinflammation |
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Acute hepatic failure, Neutrophilia, Membranoproliferative glomerulonephritis, Maculopapular exan... |
OMIM:619644 |
Cog7-Cdg |
|
Diarrhea, Feeding difficulties, Elevated circulating creatine kinase concentration, Hepatosplenom... |
ORPHA:79333 |
Infantile Liver Failure Syndrome 2 |
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Acute hepatic failure, Lethargy, Vomiting, Hyperammonemia |
OMIM:616483 |
Dracunculiasis |
|
Nausea and vomiting, Recurrent cutaneous abscess formation, Skin rash, Diarrhea, Arthritis |
ORPHA:231 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Hyperglycinuria, Feeding difficulties, Elevated circulating 2-hydroxybutyric acid concentration, ... |
OMIM:605711 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Nausea and vomiting, Psoriasiform dermatitis, Deep dermal perivascular inflamm... |
ORPHA:49041 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Increased serum pyruvate, Hyperalaninemia, Lethargy |
OMIM:312170 |
Mitochondrial Complex I Deficiency, Nuclear Type 9 |
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Neonatal death, Lethargy, Feeding difficulties |
OMIM:618232 |
Congenital Factor Xiii Deficiency |
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Inflammation of the large intestine, Myeloid leukemia, Menorrhagia, Hepatic failure |
ORPHA:331 |
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
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Gastritis, Folate-unresponsive megaloblastic anemia, Abnormal erythrocyte morphology, Megaloblast... |
ORPHA:2575 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
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Lethargy, Elevated circulating creatine kinase concentration, Hyperammonemia |
OMIM:618120 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
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Recurrent skin infections, Feeding difficulties, Decreased serum creatinine, Hypohomocysteinemia,... |
OMIM:617744 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
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Hyponatremia, Cryptorchidism, Hyperkalemia, Dehydration, Adrenocorticotropic hormone excess, Azoo... |
ORPHA:90791 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Lethargy, Feeding difficulties, Increased C-peptide level |
ORPHA:276580 |
Holocarboxylase Synthetase Deficiency |
|
Skin rash, Feeding difficulties in infancy, Hyperammonemia, Vomiting, Lethargy, Thrombocytopenia |
OMIM:253270 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Elevated circulating acylcarnitine concentration, Anemia, Abnormal circulating creatine kinase co... |
OMIM:615838 |
Scrub Typhus |
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Nausea and vomiting, Anterior uveitis, Skin rash, Abdominal pain, Splenomegaly, Myocarditis, Leth... |
ORPHA:83317 |
Radiation Proctitis |
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Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... |
ORPHA:70475 |
Isolated Thyroid-Stimulating Hormone Deficiency |
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Neonatal hyperbilirubinemia, Feeding difficulties in infancy, Facial edema, Pituitary hypothyroid... |
ORPHA:90674 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
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Intermittent diarrhea, Feeding difficulties |
OMIM:620270 |
Immunodeficiency 87 And Autoimmunity |
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Atrophic gastritis, Villous atrophy, Elevated circulating C-reactive protein concentration, Secre... |
OMIM:619573 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
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Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, D... |
OMIM:235400 |
Hypothyroidism Due To Tsh Receptor Mutations |
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Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Edema, Feeding difficulti... |
ORPHA:90673 |
Central Neurocytoma |
|
Nausea and vomiting, Lethargy, Depression |
ORPHA:73256 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
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Abnormality of the gastrointestinal tract, Lethargy, Hyperlipidemia |
ORPHA:2089 |
Adult Idiopathic Neutropenia |
|
Helicobacter pylori infection, Abnormal neutrophil count, Monocytosis, Recurrent aphthous stomati... |
ORPHA:2688 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Acute hepatic failure, Vomiting, Hyperammonemia, Dehydration |
OMIM:615453 |
Hereditary Fructose Intolerance |
|
Abdominal pain, Abdominal distention, Diarrhea, Hypermagnesemia, Vomiting, Hyperuricemia, Constip... |
ORPHA:469 |
Hyperlipoproteinemia, Type Id |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Pancreatitis, Decrea... |
OMIM:615947 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Conjugated hyperbilirubinemia, Splenomegaly, Diarrhea, Cholelithiasis, Fat malabsorption |
OMIM:211600 |
Kaposi Sarcoma |
|
Abnormality of the gastrointestinal tract, Skin rash, Lymphedema, Abnormality of the spleen, Diar... |
ORPHA:33276 |
Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Superficial dermal perivascular inflammatory infiltrate, Edema, Auto... |
ORPHA:324636 |
Bile Acid Synthesis Defect, Congenital, 2 |
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Splenomegaly, Diarrhea, Hyperbilirubinemia, Steatorrhea, Hepatic failure |
OMIM:235555 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Pancolitis, Bloody di... |
OMIM:618213 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Decreased proportion of naive T cells, Aplasia of the thymus, Sinusitis, Pneumonia, Malabsorption... |
ORPHA:83471 |
Pgm3-Cdg |
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Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Gastroesophageal reflux, High palate, Neut... |
ORPHA:443811 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Abdominal pain, Elevated circulating uracil concentration, Protein avoidance, Hyperglutaminemia, ... |
OMIM:311250 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Lethargy, Vomiting, Hyperglycinuria, Cerebral edema |
OMIM:201450 |
Juvenile Polyposis Of Infancy |
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Gastrointestinal hemorrhage, Refractory anemia, Abdominal pain, High, narrow palate, Rectal prola... |
ORPHA:79076 |
Plague |
|
Chapped lip, Skin rash, Anorexia, Abdominal pain, Hematemesis, Splenomegaly, Lymphadenitis, Eryth... |
ORPHA:707 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Polyhydramnios, Feeding difficulties, Stillbirth, Decreased liver function, Neonatal death, Lethargy |
OMIM:614922 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
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Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula, Dysphagia, Lymphopenia... |
OMIM:619708 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Abdominal pain, Diarrhea, Hyperammonemia, Vomiting, Pancreatitis |
OMIM:620137 |
Immunodeficiency 7 |
|
Autoimmune hemolytic anemia, Splenomegaly, Diarrhea, Hypereosinophilia, Neutropenia, Chronic oral... |
OMIM:615387 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, Pneumonia, Chronic diarrhe... |
OMIM:300400 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Increased circulating fr... |
ORPHA:71212 |
Familial Mediterranean Fever |
|
Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Pericarditis, Skin rash, Mala... |
ORPHA:342 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Anorexia, Hyperammonemia, Hyperpro... |
ORPHA:3008 |
Maternal Uniparental Disomy Of Chromosome 4 |
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Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Acanthocytosis, Abnorma... |
ORPHA:96180 |
Citrullinemia, Classic |
|
Protein avoidance, Hyperglutaminemia, Cerebral edema, Hyperammonemia, Episodic ammonia intoxicati... |
OMIM:215700 |
Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Hypernatremic dehydration, Hyperkalemia, Feeding difficulties |
OMIM:143860 |
Immunodeficiency 15B |
|
Monocytosis, Reduced natural killer cell count, Chronic diarrhea, Chronic oral candidiasis |
OMIM:615592 |
Lujo Hemorrhagic Fever |
|
Maculopapular exanthema, Skin rash, Elevated circulating C-reactive protein concentration, Facial... |
ORPHA:319213 |
Adrenal Hypoplasia, Congenital |
|
Hyponatremia, Hypogonadotropic hypogonadism, Cryptorchidism, Dehydration, Oligozoospermia, Azoosp... |
OMIM:300200 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Pancytopenia, Skin rash, Diarrhea, Vomiting, Lethargy, Episodic vomiting, Cerebral edema |
OMIM:618321 |
Sandhoff Disease, Juvenile Form |
|
Diarrhea, Constipation, Dysphagia |
ORPHA:309162 |
Hereditary Angioedema Type 1 |
|
Tongue edema, Intestinal edema, Pharyngeal edema, Abdominal pain, Abnormal soft palate morphology... |
ORPHA:100050 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Increased serum pyruvate, Lethargy, High palate, Feeding difficulties |
OMIM:604377 |
Pyruvate Dehydrogenase Deficiency |
|
Feeding difficulties in infancy, Lethargy, High palate |
ORPHA:765 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Diarrhea, B lymphocytopenia, High palate, Pneumonia |
OMIM:614069 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Esophageal spasms, Decreased serum iron, Abnorma... |
ORPHA:447 |
Dend Syndrome |
|
Vomiting, Elevated hemoglobin A1c, Dehydration |
ORPHA:79134 |
Alg1-Cdg |
|
Abnormality of the gastrointestinal tract, Chronic diarrhea, Protein-losing enteropathy, Hypoalbu... |
ORPHA:79327 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Hypoammonemia, Feeding difficulties in infancy, Dehydration, Aminoaciduria, ... |
ORPHA:534 |
Somatostatinoma |
|
Anorexia, Poor appetite, Lack of bowel sounds, Episodic abdominal pain, Constipation, Neoplasm of... |
ORPHA:97283 |
Osteopetrosis, Autosomal Recessive 9 |
|
Hyperparathyroidism, Elevated circulating creatinine concentration, Hyperkalemia, Anemia |
OMIM:620366 |
Mednik Syndrome |
|
Jejunal atresia, Diarrhea, Increased circulating very long-chain fatty acid concentration, Neonat... |
OMIM:609313 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Premature ovarian insufficiency... |
OMIM:240300 |
Alternating Hemiplegia Of Childhood |
|
Abnormality of the gastrointestinal tract, Anorexia, Oral-pharyngeal dysphagia, Abdominal distent... |
ORPHA:2131 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Systemic Capillary Leak Syndrome |
|
Pericarditis, Abdominal pain, Myocarditis, Diarrhea, Leukocytosis, Pedal edema, Pleural effusion,... |
ORPHA:188 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Dysmenorrhea, Abnormal ... |
ORPHA:264580 |
Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Eosinophilia, Pustule, Ulcerative colitis, Cutaneous abscess |
ORPHA:555905 |
Multifocal Atrial Tachycardia |
|
Feeding difficulties in infancy, Cryptorchidism, Lethargy |
ORPHA:3282 |
Porphyria, Acute Intermittent |
|
Abdominal pain, Diarrhea, Depression, Paralytic ileus, Vomiting, Constipation, Hepatocellular car... |
OMIM:176000 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Feeding difficulties in infancy, Exocrine pancreatic insufficiency, Neutropenia, Steatorrhea |
OMIM:618752 |
Angioedema, Hereditary, 1 |
|
Intestinal edema, Pharyngeal edema, Abdominal pain, Periorbital edema, Laryngeal edema, Diarrhea,... |
OMIM:106100 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Dehydration |
OMIM:610600 |
Isolated Atp Synthase Deficiency |
|
Hyperalaninemia, Lethargy, Hypogonadism, Hyperammonemia |
ORPHA:254913 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Skin rash, Polyhydramnios, Fetal ascites, Pericardial effusion, M... |
ORPHA:292 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Diarrhea, Iron deficiency anemia, Gastroesophageal reflux, High palate, Nasogastric tube feeding |
OMIM:607906 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Increased m... |
OMIM:277410 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Dehydration |
OMIM:620125 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Feeding difficulties in infancy,... |
OMIM:277400 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Edema, Polyhydramnios, Cryptorchidism, Recurrent pneumonia, Feeding difficulties, Hypocalcemia, L... |
OMIM:607143 |
Avian Influenza |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:454836 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hyperalaninemia, Lethargy, Hyperprolinemia |
OMIM:619064 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Villous atrophy, Autoimmune hemolytic... |
OMIM:614162 |
Acute Interstitial Pneumonia |
|
Elevated circulating C-reactive protein concentration, Pericardial effusion, Elevated circulating... |
ORPHA:79126 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Hypergonadotropic hypogonadism, Elevated circulating creatine kinase concentration, Poor appetite... |
ORPHA:352447 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Normocytic anemia, Abnormality of neutrophils, Malabsorption, Anorex... |
ORPHA:33226 |
Syndromic Diarrhea |
|
Dependency on intravenous nutrition, Villous atrophy, Gastritis, Increased mean platelet volume, ... |
ORPHA:84064 |
Ppoma |
|
Anorexia, Poor appetite, Lack of bowel sounds, Episodic abdominal pain, Constipation, Intestinal ... |
ORPHA:97278 |
Glycogen Storage Disease Ic |
|
Stomatitis, Cyclic neutropenia, Chronic pancreatitis, Hyperlipidemia, Gout, Inflammation of the l... |
OMIM:232240 |
Susac Syndrome |
|
Nausea and vomiting, Lethargy, Apathy |
ORPHA:838 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Feeding difficulties in infancy, Diarrhea, Elevated circulating creatinine concentration, Gastroe... |
OMIM:223900 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
OMIM:609015 |
Glycogen Storage Disease Ixb |
|
Splenomegaly, Diarrhea, Hyperuricemia |
OMIM:261750 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Recurrent skin infections, Pneumonia, Edema, Esophageal stricture, Malnutrition, Abnormal blood i... |
ORPHA:79404 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Aminoaciduria, Vomiting, Diarrhea, Feeding difficulties |
OMIM:612075 |
Reactive Arthritis |
|
Pericarditis, Osteomyelitis, Abdominal pain, Pustule, Diarrhea, Enthesitis, Arthritis, Inflammati... |
ORPHA:29207 |
Sandifer Syndrome |
|
Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ... |
ORPHA:71272 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abnormal natural killer cell count, Di... |
ORPHA:79124 |
Argininosuccinic Aciduria |
|
Feeding difficulties in infancy, Protein avoidance, Hyperglutaminemia, Cerebral edema, Hyperammon... |
OMIM:207900 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased HDL cholesterol concentration, Pineal cyst, Feeding difficulties, Iron deficiency anemi... |
OMIM:618885 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Acute hyperammonemia, Seborrheic dermatitis, Hyperglycinuria, Hyperammonemia, Feeding difficultie... |
OMIM:210210 |
Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Recurrent pneumonia, Anemia, Recurrent otitis media, Neutrop... |
OMIM:617475 |
Cog4-Cdg |
|
Fatal liver failure in infancy, Hepatosplenomegaly, Feeding difficulties, Intermittent diarrhea, ... |
ORPHA:263501 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Autoimmune hemolytic anemia, Lymphocytic interstitial pneumonia, Splenomegaly, Diarrhea, Recurren... |
OMIM:618495 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Feeding difficulties in infancy, Hypertonic dehydration, Constipation, Vomiting, Hypernatremia |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Feeding difficulties in infancy, Hypertonic dehydration, Constipation, Vomiting, Hypernatremia |
OMIM:304800 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Cryptorchidism, Xerostomia, Primary amenorrhea, Feeding difficulties, Chronic constipation, Gastr... |
ORPHA:398069 |
Developmental And Epileptic Encephalopathy 41 |
|
Lethargy, Feeding difficulties |
OMIM:617105 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Lethargy |
ORPHA:276608 |
Rapadilino Syndrome |
|
High, narrow palate, Diarrhea, Cleft palate, Feeding difficulties, High palate |
OMIM:266280 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration, Episodic vom... |
OMIM:612736 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Poor appetite, Hypoalbuminemia, Hyperthreoninemia, Abnor... |
ORPHA:247598 |
Diffuse Alveolar Hemorrhage |
|
Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Anemia |
ORPHA:90060 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Feeding difficulties in infancy, Lethargy, Acute hyperammonemia, Vomiting |
OMIM:210200 |
Hemorrhagic Fever-Renal Syndrome |
|
Pneumonia, Glomerulonephritis, Abdominal pain, Hematemesis, Leukocytosis, Diarrhea, Elevated circ... |
ORPHA:340 |
Omenn Syndrome |
|
Eosinophilia, Pneumonia, Edema, Splenomegaly, Leukocytosis, Chronic diarrhea, Thyroiditis, Erythr... |
ORPHA:39041 |
Immunodeficiency, Common Variable, 2 |
|
Splenomegaly, Diarrhea, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent sinusitis,... |
OMIM:240500 |
Mirage Syndrome |
|
Hyponatremia, Hypergonadotropic hypogonadism, Thrombocytopenia, Esophageal stricture, Cryptorchid... |
OMIM:617053 |
Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, Diarrhea, Hypo... |
OMIM:603554 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Abnormal eosinophil morphology, Uveitis, Hypoalbuminemia, Neoplasm of the ... |
ORPHA:171 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... |
ORPHA:75564 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Lethargy, Vomiting, Hyperglycinemia |
OMIM:614299 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Abnormal circulating fatty-acid concentration, Diarrhea, Vomiting, Hypophosphatemic rickets, Leth... |
ORPHA:263455 |
Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Poor appetite, Diarrhea, Dehydration, Aminoaciduria, Hypokalemia, Vomiting, Con... |
ORPHA:18 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Villous atrophy, Duodenitis, Pustule, Bloody diarrhea, Erythroderma, Blepharitis |
OMIM:614328 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Polyhydramnios, Pericardial effusion, Cryptorchidism, Secreto... |
OMIM:618183 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Cleft soft palate, Pure red cell aplasia, Nonimmune hydrops fetalis, Eryt... |
ORPHA:124 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Villous atrophy, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+... |
OMIM:606367 |
Meningococcal Meningitis |
|
Projectile vomiting, Skin rash, Elevated circulating C-reactive protein concentration, Anorexia, ... |
ORPHA:33475 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Abdominal pain, Rectal prolapse, Multiple gastric polyps, Bloody diarrh... |
OMIM:175200 |
Crigler-Najjar Syndrome |
|
Lethargy, Infectious encephalitis |
ORPHA:205 |
Thymoma |
|
Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synth... |
ORPHA:99867 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vii |
|
Diarrhea, Constipation |
OMIM:615548 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Feeding difficulties in infancy, Diarrhea, Constipation, Gastroesophageal reflux, Lethargy |
OMIM:608643 |
46,Xy Sex Reversal 4 |
|
Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Cleft palate, High... |
OMIM:154230 |
Enterokinase Deficiency |
|
Diarrhea, Hypoproteinemia, Hypoproteinemic edema |
OMIM:226200 |
Periodic Fever, Familial, Autosomal Dominant |
|
Gastrointestinal hemorrhage, Myositis, Maculopapular exanthema, Skin rash, Abdominal pain, Perior... |
OMIM:142680 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Chronic ... |
ORPHA:169154 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Dysmenorrhea, Splenomeg... |
ORPHA:79240 |
Hermansky-Pudlak Syndrome 1 |
|
Hematochezia, Inflammation of the large intestine, Colitis, Abdominal pain |
OMIM:203300 |
Selective Igm Deficiency |
|
Fasciitis, Lymphadenitis, Recurrent cutaneous fungal infections, Decreased proportion of transiti... |
ORPHA:331235 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Villous atrophy, Pericarditis, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, E... |
OMIM:212065 |
Familial Pancreatic Carcinoma |
|
Nausea and vomiting, Pancreatic adenocarcinoma, Intestinal pseudo-obstruction, Functional intesti... |
ORPHA:1333 |
Majeed Syndrome |
|
Inflammatory abnormality of the skin, Osteomyelitis, Acne, Edema, Congenital hypoplastic anemia, ... |
ORPHA:77297 |
Leukocyte Adhesion Deficiency, Type I |
|
Osteomyelitis, Elevated circulating C-reactive protein concentration, Leukocytosis, Chronic diarr... |
OMIM:116920 |
Benign Samaritan Congenital Myopathy |
|
Lethargy |
ORPHA:324581 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Nausea and vomiting, Abnormal neutrophil count, Lymphedema, Splenomegaly, Leukocytosis, Acute leu... |
ORPHA:3226 |
Pseudo-Torch Syndrome 2 |
|
Lethargy, Pleural effusion, Ascites, Thrombocytopenia |
OMIM:617397 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Splenomegaly, Diarrhea, Hepatitis, Hematochezia, Acholic stools, Bile duct proliferation, Hyperbi... |
OMIM:613812 |
Congenital Disorder Of Glycosylation, Type Id |
|
Villous atrophy, Diarrhea, High palate, Vomiting, Bifid uvula |
OMIM:601110 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Poor appetite, Elevated circulating creatinine concentration, Dehydra... |
ORPHA:411634 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Chronic diarrhea, Colitis, Bronchiectasis, Recurrent pneumonia |
OMIM:301220 |
Lamellar Ichthyosis |
|
Chronic otitis media, Dehydration, Erythroderma |
ORPHA:313 |
Immunodeficiency 32B |
|
Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Splenomegaly, Bronchiectasis, Anemia, Impaired ... |
OMIM:226990 |
Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Skin rash, Elevated circulating creatine kinase concentration, Ele... |
OMIM:610377 |
Insulinoma |
|
Lethargy, Primary hyperparathyroidism, Zollinger-Ellison syndrome, Pituitary prolactin cell adenoma |
ORPHA:97279 |
Gastroesophageal Reflux |
|
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis |
OMIM:109350 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Autoimmune hemolytic anemia, Psoriasiform dermatitis, Intestinal malrotation, Polyhydramnios, Jej... |
ORPHA:436252 |
Grfoma |
|
Anorexia, Poor appetite, Lack of bowel sounds, Zollinger-Ellison syndrome, Pheochromocytoma, Epis... |
ORPHA:97261 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Xerostomia, Primary amenorrhea, Hypogonadism, Smal... |
ORPHA:398079 |
Cutaneous Mastocytoma |
|
Maculopapular exanthema, Abdominal pain, Diarrhea, Angioedema, Vomiting, Peau d'orange, Nausea |
ORPHA:79455 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Diarrhea, Chronic diarrhea |
OMIM:614102 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red bloo... |
OMIM:263300 |
Hypocomplementemic Urticarial Vasculitis |
|
Nausea and vomiting, Episcleritis, Skin rash, Abdominal pain, Pericardial effusion, Splenomegaly,... |
ORPHA:36412 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... |
OMIM:106300 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Polyhydramnios, Abdominal pain, Encopresis, Diarrhea, Constipation, Gastroesophageal reflux, Dysp... |
ORPHA:589821 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, B lymphocytopenia, Rectal abscess, Conjunc... |
OMIM:601495 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Abnormality of the gastrointestinal tract, Nausea and vomiting, Intestinal malrotation, Polyhydra... |
ORPHA:2241 |
B4Galt1-Cdg |
|
Inflammatory abnormality of the skin, Elevated circulating creatine kinase concentration, Edema, ... |
ORPHA:79332 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Eosinophilic infiltration of the esophagus, Eczema, Recurrent pneumonia, Bronchiect... |
OMIM:243700 |
Harlequin Ichthyosis |
|
Dehydration, Erythroderma |
ORPHA:457 |
Immunodeficiency 22 |
|
Pericarditis, Abscess, Diarrhea, Protracted diarrhea, Anemia, Panniculitis, Chronic oral candidia... |
OMIM:615758 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Elevated circulating luteinizing hormone level, Cryptorchidism, Hyperkalemia, Decre... |
ORPHA:168558 |
Familial Hypoaldosteronism |
|
Hyponatremia, Nausea and vomiting, Diarrhea, Hyperkalemia, Feeding difficulties, Increased circul... |
ORPHA:427 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Lethargy, Hepatic failure, Transient hyperlipidemia |
ORPHA:156 |
Cocaine Intoxication |
|
Elevated circulating creatine kinase concentration, Glomerulonephritis, Abdominal pain, Intestina... |
ORPHA:90068 |
Nephronophthisis-Like Nephropathy 2 |
|
Elevated circulating creatinine concentration, Bronchiectasis |
OMIM:619468 |
Cystinosis, Nephropathic |
|
Hyponatremia, Male infertility, Oral-pharyngeal dysphagia, Splenomegaly, Hypomagnesemia, Generali... |
OMIM:219800 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Elevated circulating luteinizing hormone level, Cryptorchidism, Hyperkalemia, Decre... |
ORPHA:289548 |
Boutonneuse Fever |
|
Maculopapular exanthema, Skin rash, Abdominal pain, Diarrhea, Leukopenia, Nausea, Thrombocytopenia |
ORPHA:83313 |
Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Edema, Hamartomatous polyposis, ... |
ORPHA:2929 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Granulomatous cholangitis, Ulcerative colitis, Sclerosing cholangitis, Inflammation of the large ... |
ORPHA:562639 |
Kindler Epidermolysis Bullosa |
|
Recurrent skin infections, Esophageal stricture, Cheilitis, Inflammation of the large intestine, ... |
ORPHA:2908 |
Trichinellosis |
|
Skin rash, Edema, Facial edema, Periorbital edema, Conjunctivitis, Apathy, Dysphagia, Lethargy, N... |
ORPHA:863 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Edema, Bloody diarrhea, Hemolytic anemia, Chilblains, Pericardial effusion, H... |
OMIM:615846 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Splenomegaly, Chronic diarrhea, Feeding difficulties, Hepatic failure, Recurrent infection of the... |
OMIM:613489 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoornithinemia, Leth... |
OMIM:615751 |
Chromosome 19P13.13 Deletion Syndrome |
|
Abdominal pain, Diarrhea, Feeding difficulties, Constipation, Vomiting |
OMIM:613638 |
Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Dyspareunia, Abnormality... |
ORPHA:36426 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612926 |
Myopathy, Myofibrillar, 1 |
|
Diarrhea, Constipation |
OMIM:601419 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Lethargy |
OMIM:610006 |
Proximal Renal Tubular Acidosis |
|
Malabsorption, Diarrhea, Bicarbonaturia, Dehydration, Hypokalemia, Aminoaciduria, Vomiting |
ORPHA:47159 |
Attrv30M Amyloidosis |
|
Diarrhea, Constipation, Impotence |
ORPHA:85447 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Diarrhea, Steatorrhea, High palate, Neutropenia, Hyperechogenic pancreas, Thro... |
OMIM:617941 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Osteomyelitis, Elevated circulating C-reactive protein concentration, Edema, Depression, Inflamma... |
ORPHA:70591 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Bipolar affective disorder, Gastroparesis, Elevated circulating creatine kinase concentration, Ed... |
ORPHA:254892 |
Adiposis Dolorosa |
|
Recurrent skin infections, Diarrhea, Xerostomia, Depression, Arthritis, Constipation |
ORPHA:36397 |
Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra... |
ORPHA:231226 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymphopenia, Chronic oral candidiasis, Decreased proportion of naive T cells, Recurrent bacterial... |
ORPHA:276 |
Caspase 8 Deficiency |
|
Pneumonia, Eczema, Splenomegaly, Chronic diarrhea, Decreased CD4:CD8 ratio |
OMIM:607271 |
Diarrhea 13 |
|
Hypoalbuminemia, Secretory diarrhea, Vomiting |
OMIM:620357 |
Malonyl-Coa Decarboxylase Deficiency |
|
Abdominal pain, Diarrhea, Chronic constipation, Constipation, Vomiting |
OMIM:248360 |
Adult-Onset Still Disease |
|
Pericarditis, Neutrophilia, Skin rash, Elevated circulating C-reactive protein concentration, Abd... |
ORPHA:829 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612924 |
Methionine Malabsorption Syndrome |
|
Diarrhea, Aminoaciduria, Positive ferric chloride test |
OMIM:250900 |
Yellow Fever |
|
Acute pancreatitis, Neutrophilia, Skin rash, Elevated circulating creatine kinase concentration, ... |
ORPHA:99829 |
Psoriasis 14, Pustular |
|
Neutrophilia, Psoriasiform dermatitis, Cholangitis, Elevated circulating C-reactive protein conce... |
OMIM:614204 |
Aa Amyloidosis |
|
Abdominal pain, Malabsorption, Chronic diarrhea, Malnutrition, Vomiting, Nausea |
ORPHA:85445 |
Yao Syndrome |
|
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Abdominal pain, Diarrhea, Xerostom... |
OMIM:617321 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Peritonitis, Diarrhea, Arthr... |
ORPHA:343 |
Multiple Myeloma |
|
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Functional abnormalit... |
ORPHA:29073 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Hyperglutamatemia, Hypoargininemia, Low plasma citrulline, Chronic diarrhea, Hyperammonemia, Hype... |
OMIM:620358 |
Familial Renal Glucosuria |
|
Elevated hemoglobin A1c, Dehydration |
ORPHA:69076 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Lethargy, Vomiting, Dysphagia |
OMIM:607483 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Intestinal malrotation, Polyhydramnios, Abdominal distention, Secretory diarrhea, Cleft palate, R... |
OMIM:270420 |
Maculopapular Cutaneous Mastocytosis |
|
Diarrhea, Vomiting, Nausea, Abdominal pain |
ORPHA:79457 |
Benign Recurrent Intrahepatic Cholestasis |
|
Nausea and vomiting, Anorexia, Abdominal pain, Chronic diarrhea, Acholic stools, Hepatocellular c... |
ORPHA:65682 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612925 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Esophageal stricture, Chronic diarrhea, Leukopenia, Neutropenia, O... |
OMIM:613989 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Hypercalcemia, Polyhydra... |
OMIM:601678 |
Radiculoneuropathy, Fatal Neonatal |
|
Chronic diarrhea, Polyhydramnios |
OMIM:266250 |
Ileal Neuroendocrine Tumor |
|
Intestinal fistula, Functional intestinal obstruction, Edema, Gastrointestinal obstruction, Episo... |
ORPHA:100078 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Polyhydramnios, Conjugated hyperbilirubinemia, Abdominal distention, Ascites, H... |
OMIM:617156 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Intestinal obstruction, Absent natura... |
OMIM:600802 |
Complement Component 4B Deficiency |
|
Chronic active hepatitis, Chronic diarrhea, Recurrent pneumonia, Recurrent sinusitis, Recurrent o... |
OMIM:614379 |
Addison Disease |
|
Normocytic anemia, Hypoparathyroidism, Hyponatremia, Primary testicular failure, Nausea and vomit... |
ORPHA:85138 |
Lassa Fever |
|
Nausea and vomiting, Menometrorrhagia, Abdominal pain, Facial edema, Diarrhea, Conjunctivitis, Dy... |
ORPHA:99824 |
Young-Onset Parkinson Disease |
|
Gastroparesis, Diarrhea, Depression, Bradykinesia, Male sexual dysfunction, Constipation, Apathy,... |
ORPHA:2828 |
Fumarase Deficiency |
|
Necrotizing enterocolitis, Polyhydramnios, Ascites, Aminoaciduria, High palate, Hyperbilirubinemi... |
OMIM:606812 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Neonatal death, Abdominal distention, Microcolon, Polyhydramnios |
OMIM:619362 |
Developmental And Epileptic Encephalopathy 50 |
|
Acanthocytosis, Diarrhea, Schistocytosis, Anisopoikilocytosis, Hyperammonemia, Dysphagia, Anemia |
OMIM:616457 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Palpebral edema, Conjugated hyperbilirubinemia, Splenomegaly, Cryptorchidism, Feeding difficultie... |
OMIM:614866 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Chronic tubulointerstitial nephritis, Elevated circulating creatinine concentration, Glomerulonep... |
OMIM:614376 |
Good Syndrome |
|
Abnormal leukocyte morphology, Sinusitis, Recurrent skin infections, Diarrhea, Bronchiectasis, An... |
ORPHA:169105 |
Neuroendocrine Tumor Of Stomach |
|
Nausea and vomiting, Anorexia, Poor appetite, Hematemesis, Bowel urgency, Lack of bowel sounds, B... |
ORPHA:100075 |
Lissencephaly, X-Linked, 2 |
|
Feeding difficulties in infancy, Diarrhea, High palate, Decreased testicular size |
OMIM:300215 |
Legionnaires Disease |
|
Hyponatremia, Nausea and vomiting, Pericarditis, Anorexia, Abdominal pain, Splenomegaly, Diarrhea... |
ORPHA:549 |
C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Elevated circulating creatinine concentration |
ORPHA:329918 |
Nephronophthisis 2 |
|
Elevated circulating creatinine concentration, Hyperkalemia, Chronic tubulointerstitial nephritis... |
OMIM:602088 |
Glutaric Acidemia Type 3 |
|
Elevated circulating glutaric acid concentration, Lethargy, Abnormality of circulating enzyme level |
ORPHA:35706 |
Lysinuric Protein Intolerance |
|
Hypolysinemia, Protein avoidance, Splenomegaly, Increased circulating ferritin concentration, Mal... |
OMIM:222700 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Skin ras... |
ORPHA:35078 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosinophilia, Sinus... |
OMIM:102700 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Chronic diarrhea, Hypoalbuminemia, Pancreatitis, Microcytic anemia |
OMIM:618805 |
Botulism |
|
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia |
ORPHA:1267 |
Pediatric-Onset Graves Disease |
|
Nausea and vomiting, Episcleritis, Keratitis, Splenomegaly, Diarrhea, Neutropenia in presence of ... |
ORPHA:525731 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Pneumonia, Periodontitis, Reduction of neutrophil motility, Recurrent otitis media |
OMIM:266265 |
Interstitial Nephritis, Karyomegalic |
|
Tubulointerstitial nephritis, Elevated circulating creatinine concentration, Increased blood urea... |
OMIM:614817 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Nausea and vomiting, Leukocytosis, Cerebral edema, Depression, Hashimoto thyroiditi... |
ORPHA:83601 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Polyhydramnios, Elevated maternal serum alpha-fetoprotein, Esophageal atresia, Congenital pyloric... |
OMIM:226730 |
Hyper-Igd Syndrome |
|
Neutrophilia, Skin rash, Abdominal pain, Splenomegaly, Leukocytosis, Lymphadenitis, Chronic diarr... |
OMIM:260920 |
Rat-Bite Fever |
|
Pericarditis, Parotitis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pus... |
ORPHA:31205 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Pituitary hypothyroidism, Depression, Lethargy, Abno... |
ORPHA:99832 |
Infantile Nephropathic Cystinosis |
|
Abnormal blood ion concentration, Dehydration, Aminoaciduria, Hypokalemia, Vomiting, Constipation... |
ORPHA:411629 |
Immunodeficiency 59 And Hypoglycemia |
|
Recurrent skin infections, Malabsorption, Chronic diarrhea, Herpes simplex encephalitis, Decrease... |
OMIM:233600 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated circulating acylcarnitine concentration, Hyperammonemia, Decreased circulating carnitine... |
ORPHA:159 |
Carney Triad |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Anorexia, Abdominal pain, Gastrointestinal stro... |
ORPHA:139411 |
Beta-Thalassemia Major |
|
Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra... |
ORPHA:231214 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Lymphadenitis, Decreased retinol-binding p... |
ORPHA:449395 |
Ogden Syndrome |
|
High, narrow palate, Lethargy, Cryptorchidism |
ORPHA:276432 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Hepatosplenomegaly,... |
OMIM:242700 |
Intestinal Botulism |
|
Nausea and vomiting, Diarrhea, Xerostomia, Dysphagia |
ORPHA:178481 |
Neuroendocrine Neoplasm Of Appendix |
|
Nausea and vomiting, Abdominal colic, Mechanical ileus, Functional intestinal obstruction, Anorex... |
ORPHA:100079 |
Multiple Endocrine Neoplasia, Type I |
|
Peptic ulcer, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, H... |
OMIM:131100 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Schistocytosis, Elevated circulating creatinine concentration, Microangiopathic ... |
OMIM:274150 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Polyhydramnios, Cleft palate, Increased mean corpuscular volume, Esophagitis, ... |
OMIM:612562 |
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form |
|
Palpebral edema, Feeding difficulties, Hyposerinemia, Gastroesophageal reflux, Esophagitis |
ORPHA:79350 |
Foodborne Botulism |
|
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia |
ORPHA:228371 |
Erythermalgia, Primary |
|
Keratoconjunctivitis sicca, Diarrhea, Xerostomia, Constipation |
OMIM:133020 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Feeding difficulties in infancy, Hypocalcemia, Lethargy, Poor suck, Chronic h... |
ORPHA:746 |
Bile Acid Malabsorption, Primary, 2 |
|
Decreased circulating chenodeoxycholic acid concentration, Chronic diarrhea, Steatorrhea |
OMIM:619481 |
Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Episcleritis, Sinusitis, Increased inflammatory... |
ORPHA:727 |
Medulloblastoma |
|
Nausea and vomiting, Lethargy, Adenomatous colonic polyposis |
ORPHA:616 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Decreased response to growth hormone stimulation test, Pneumonia, Enteroviral hepatiti... |
OMIM:307200 |
Coach Syndrome 2 |
|
Elevated circulating creatinine concentration |
OMIM:619111 |
Pauci-Immune Glomerulonephritis |
|
Abnormality of the gastrointestinal tract, Glomerulonephritis, Abdominal pain, Elevated circulati... |
ORPHA:93126 |
Turcot Syndrome With Polyposis |
|
Intestinal polyposis, Abdominal pain, Pituitary adenoma, Adenomatous colonic polyposis, Diarrhea,... |
ORPHA:99818 |
Sarcoidosis, Susceptibility To, 1 |
|
Pancytopenia, Anorexia, Pericardial effusion, Splenomegaly, Iridocyclitis, Enlarged lacrimal glan... |
OMIM:181000 |
Nephrogenic Diabetes Insipidus |
|
Nausea and vomiting, Hypernatremic dehydration, Anorexia, Polyhydramnios, Feeding difficulties, C... |
ORPHA:223 |
Cold Agglutinin Disease |
|
Splenomegaly, Hemolytic anemia, Diarrhea, Nausea and vomiting |
ORPHA:56425 |
Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Diarrhea, Interstitial pneumonitis, Vomiting, Granulocytope... |
ORPHA:454831 |
Bone Dysplasia, Lethal Holmgren Type |
|
Nausea and vomiting, Diarrhea, Anemia |
ORPHA:1842 |
Fructose Intolerance, Hereditary |
|
Gastrointestinal hemorrhage, Transient aminoaciduria, Abdominal pain, Malnutrition, Bicarbonaturi... |
OMIM:229600 |
Zollinger-Ellison Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Hyperparathyroidism, Duodenal ulcer, Peptic ... |
ORPHA:913 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decrea... |
ORPHA:226307 |
Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Unilateral cryptorchidism, Cryptorchidism, Chronic diarrhea, Feeding difficulties, Chronic consti... |
OMIM:617788 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Skin ras... |
ORPHA:331206 |
Alobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Cleft palate, Poor suck, Feeding difficult... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Cleft palate, Poor suck, Feeding difficult... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Cleft palate, Poor suck, Feeding difficult... |
ORPHA:93924 |
Semilobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Cleft palate, Poor suck, Feeding difficult... |
ORPHA:220386 |
Beta-Thalassemia Intermedia |
|
Hypoparathyroidism, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate... |
ORPHA:231222 |
Spontaneous Periodic Hypothermia |
|
Nausea and vomiting, Diarrhea, Skin rash |
ORPHA:29822 |
Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, Recurrent pneumonia, Protracted diarrhea, T lymphocyto... |
OMIM:610163 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Increased circulating thyroglobulin level, Feeding difficulties in infancy, Abdominal distention,... |
OMIM:218700 |
Neuroendocrine Tumor Of The Rectum |
|
Anorexia, Bowel urgency, Abdominal pain, Lack of bowel sounds, Bloody diarrhea, Hematochezia, Mel... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Anorexia, Bowel urgency, Abdominal pain, Lack of bowel sounds, Bloody diarrhea, Hematochezia, Mel... |
ORPHA:100082 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Protein avoidance, Hepatitis, Hyperammonemia, Feeding difficulties, Hyperornithinemia, Decreased ... |
ORPHA:415 |
Brucellosis |
|
Liver abscess, Elevated circulating C-reactive protein concentration, Anorexia, Knee osteoarthrit... |
ORPHA:1304 |
Wild Type Attr Amyloidosis |
|
Bowel incontinence, Gastrointestinal dysmotility, Chronic diarrhea, Pedal edema, Intermittent dia... |
ORPHA:330001 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Pustule, Leukocytosis, Cheil... |
ORPHA:247353 |
Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Hemolytic anemia, Diarrhea, Abdominal pain |
OMIM:615399 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Increased circulating ferritin concentration, Diarrhea, Atopic dermatitis, Hypochromic microcytic... |
ORPHA:3240 |
Caroli Disease |
|
Cholangiocarcinoma, Liver abscess, Cholangitis, Anorexia, Abdominal pain, Conjugated hyperbilirub... |
ORPHA:53035 |
Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Nausea and vomiting, Neutrophilia, Elevated circulating C-reactive protein concentr... |
ORPHA:1930 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Anorexia, Abdominal pain, Abdominal distention, Leukocytosis, Recurrent infection of the gastroin... |
ORPHA:51890 |
Acute Intermittent Porphyria |
|
Hyponatremia, Nausea and vomiting, Abdominal pain, Abdominal distention, Diarrhea, Ileus, Depress... |
ORPHA:79276 |
Immunodeficiency 36 With Lymphoproliferation |
|
Splenomegaly, Chronic diarrhea, Bronchiectasis, Chronic lymphatic leukemia, Increased proportion ... |
OMIM:616005 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Chronic oral candidiasis, Splenomegaly, Diarrhea, Hepatitis, Chronic hepatitis,... |
OMIM:308230 |
Nijmegen Breakage Syndrome |
|
Anal stenosis, Autoimmune hemolytic anemia, Sinusitis, Premature ovarian insufficiency, Thrombocy... |
OMIM:251260 |
Malakoplakia |
|
Inflammatory abnormality of the skin, Skin rash, Abdominal pain, Orchitis, Urinary bladder inflam... |
ORPHA:556 |
Chronic Myeloid Leukemia |
|
Poor appetite, Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative di... |
ORPHA:521 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Intestinal perforation, Hematemesis, Thrombocytopenia, Bloody diarrh... |
ORPHA:464321 |
Fabry Disease |
|
Abdominal pain, Lymphedema, Diarrhea, Tenesmus, Vomiting, Nausea, Anemia |
OMIM:301500 |
Rothmund-Thomson Syndrome Type 1 |
|
Calcinosis, Premature ovarian insufficiency, Aplastic anemia, Facial edema, Cryptorchidism, Diarr... |
ORPHA:221008 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Lethargy, Elevated circulating creatine kinase concentration, Hyperammonemia |
OMIM:212138 |
Adenine Phosphoribosyltransferase Deficiency |
|
Elevated circulating creatinine concentration, Abdominal pain |
OMIM:614723 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Oligohydramnios, Microcolon, Intestinal malrotation, Hepatic failure |
OMIM:619431 |
Dpm1-Cdg |
|
Elevated circulating creatine kinase concentration, High, narrow palate, Diarrhea, Hepatosplenome... |
ORPHA:79322 |
Melas |
|
Hypoparathyroidism, Bipolar affective disorder, Intestinal pseudo-obstruction, Hypogonadotropic h... |
ORPHA:550 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Aganglionic megacolon, Abdominal pain, Splenomegaly, Ileus, Constipation, Hypogonadism, Microcolon |
ORPHA:163746 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Bloody diarrhea, Feeding difficulties |
OMIM:615119 |
Agammaglobulinemia, X-Linked |
|
Hepatocellular carcinoma, Enteroviral hepatitis, Prostatitis, Epididymitis, Chronic diarrhea, Bro... |
OMIM:300755 |
Amoebiasis Due To Free-Living Amoebae |
|
Sinusitis, Pneumonia, Nausea, Pustule, Granuloma, Vomiting, Lethargy, Infectious encephalitis, In... |
ORPHA:68 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Polyhydramnios, Diarrhea, Dehydration, Hypoch... |
OMIM:241200 |
Methanol Poisoning |
|
Hyperlipidemia, Vomiting, Diarrhea, Abdominal pain |
ORPHA:31825 |
Adult Intestinal Botulism |
|
Diarrhea |
ORPHA:178487 |
Immunodeficiency 56 |
|
Cholangitis, Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic ... |
OMIM:615207 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Aplasia of the thymus, Eosinophilia, Pneumonia, Splenomegaly, Chronic diarrhea, B lymphocytopenia... |
OMIM:602450 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Hypomethioninemia, Feeding difficulties in infancy, Hyperhomocystinemia, Cystathioninemia, Lethar... |
ORPHA:395 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Acne, Hypogonadotropic hypogonadism, Abnormality of the menstrual cycle, Hyperkalem... |
ORPHA:90794 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated circulating alpha-fetoprotein concentration, Anorexia, Abdominal distention, Diarrhea, E... |
ORPHA:100085 |
Immunodeficiency, Common Variable, 7 |
|
Splenomegaly, Chronic diarrhea |
OMIM:614699 |
Inhalational Botulism |
|
Nausea and vomiting, Diarrhea, Xerostomia, Constipation |
ORPHA:254504 |
Hyaline Fibromatosis Syndrome |
|
Diarrhea |
OMIM:228600 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Biliary hyperplasia, Leukopenia, Aminoaciduria, Protein-losing enteropathy, Ly... |
OMIM:619991 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Psoriasiform dermatitis, Palpebral edema, Diarrhea, Abnormal T cell subset distribution, Arthriti... |
ORPHA:221139 |
Multiple Endocrine Neoplasia, Type Iib |
|
Colonic diverticula, Aganglionic megacolon, High, narrow palate, Diarrhea, Pheochromocytoma, High... |
OMIM:162300 |
Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Pericarditis, Bar... |
ORPHA:90291 |
Rothmund-Thomson Syndrome |
|
Calcinosis, Aplastic anemia, Skin rash, Facial edema, Nasogastric tube feeding in infancy, Diarrh... |
ORPHA:2909 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Chronic diarrhea, Hypergonadotropic hypogonadism, Elevated circulating creatine kinase concentrat... |
OMIM:615084 |
Carcinoid Syndrome |
|
Nausea and vomiting, Lack of bowel sounds, Episodic abdominal pain, Protracted diarrhea, Small in... |
ORPHA:100093 |
Mucopolysaccharidosis, Type Ii |
|
Intestinal pseudo-obstruction, Splenomegaly, Diarrhea, Recurrent pneumonia, Hepatosplenomegaly, M... |
OMIM:309900 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Hypoglycinemia, Megaloblastic anemia, Hyposerinemia, Feeding difficulties, Gastroesophageal reflu... |
ORPHA:79351 |
Kawasaki Disease |
|
Nausea and vomiting, Pericarditis, Skin rash, Edema, Abdominal pain, Myocarditis, Leukocytosis, D... |
ORPHA:2331 |
Oligomeganephronia |
|
Elevated circulating creatinine concentration, Dehydration |
ORPHA:2260 |
Infantile Systemic Hyalinosis |
|
Abnormality of the gastrointestinal tract, Malabsorption, Lymphedema, Chronic diarrhea, Polycysti... |
ORPHA:2176 |
19P13.13 Microdeletion Syndrome |
|
Abdominal pain, Diarrhea, Increased nuchal translucency, Functional abnormality of the gastrointe... |
ORPHA:357001 |
Aapoaiv Amyloidosis |
|
Abnormality of the gastrointestinal tract, Hyperlipidemia, Elevated circulating creatinine concen... |
ORPHA:439232 |
Mucopolysaccharidosis, Type Iiic |
|
Splenomegaly, Diarrhea, Dysphagia |
OMIM:252930 |
Acquired Hypertrichosis Lanuginosa |
|
Poor appetite, Chronic diarrhea, Ovarian neoplasm, Macroglossia, Glossitis |
ORPHA:2221 |
Listeriosis |
|
Liver abscess, Abnormal cellular immune system morphology, Granulomatosis, Conjunctivitis, Cholec... |
ORPHA:533 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Chronic diarrhea, Duodenal ulcer, Steatorrhea, Malabsorption |
ORPHA:3217 |
Immunodeficiency, Common Variable, 14 |
|
Chronic diarrhea, Psoriasiform dermatitis, Recurrent sinusitis, Decreased proportion of class-swi... |
OMIM:617765 |
Paroxysmal Cold Hemoglobinuria |
|
Nausea and vomiting, Autoimmune hemolytic anemia, Diarrhea, Coombs-positive hemolytic anemia |
ORPHA:90035 |
Rothmund-Thomson Syndrome Type 2 |
|
Calcinosis, Aplastic anemia, Facial edema, Cryptorchidism, Diarrhea, Functional abnormality of th... |
ORPHA:221016 |
Neuroendocrine Tumor Of The Colon |
|
Bowel urgency, Anorexia, Abdominal pain, Lack of bowel sounds, Bloody diarrhea, Melena, Protracte... |
ORPHA:100080 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Elevated circulating creatinine concentration, Gout, Tubulointerstitial nephritis, Hyperuricemia,... |
OMIM:174000 |
Bartter Syndrome Type 4 |
|
Hyponatremia, Polyhydramnios, Dehydration, Hypochloremia, Hypokalemia, Increased circulating reni... |
ORPHA:89938 |
Acute Adrenal Insufficiency |
|
Normocytic anemia, Hyponatremia, Nausea and vomiting, Decreased female libido, Hypercalcemia, Ano... |
ORPHA:95409 |
Retinal Dystrophy And Microvillus Inclusion Disease |
|
Chronic diarrhea, Bronchiectasis |
OMIM:619446 |
Houge-Janssens Syndrome 1 |
|
Pyloric stenosis, Chronic diarrhea |
OMIM:616355 |
Crimean-Congo Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Anorexia, Leukopenia, Conjunctivitis, Cholecy... |
ORPHA:99827 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration |
OMIM:242530 |
Acrodermatitis Enteropathica |
|
Poor appetite, Malabsorption, Anorexia, Pustule, Chronic diarrhea, Cheilitis, Furrowed tongue, Co... |
ORPHA:37 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Feeding difficulties, Hepatosplenomegaly, Decreased serum zinc, Esophagitis, Hepatic failure, Oli... |
ORPHA:541423 |
Glutaric Aciduria Iii |
|
Diarrhea, Vomiting, Goiter |
OMIM:231690 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Pleural effusion, Diarrhea, Bronchiectasis |
ORPHA:411703 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
Medullary Thyroid Carcinoma |
|
Diarrhea, Primary hyperparathyroidism, Pheochromocytoma, Dysphagia, Nodular goiter |
ORPHA:1332 |
Caroli Syndrome |
|
Cholangiocarcinoma, Liver abscess, Cholangitis, Abdominal pain, Hematemesis, Hypersplenism, Leuko... |
ORPHA:480520 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Anorexia, Cryptorchidism, Diarrhea, Hyperkalemia, Testicular adrenal rest tumor, Ep... |
ORPHA:361 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Pancytopenia, Hypersplenism, Splenomegaly, Feeding difficulties in infancy, Chronic diarrhea, Hep... |
OMIM:613385 |
Meconium Ileus |
|
Chronic diarrhea, Microcolon, Meconium ileus |
OMIM:614665 |
Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Elevated circulating creatinine concentration |
OMIM:615605 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Feeding difficulties in infancy, Splenomegaly, Cerebral edema, Vomiting, Hyperalaninemia, Hepatic... |
OMIM:252010 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Abdominal pain, Splenomegaly, Leukocytosis, Poikilocytosis, Fava b... |
OMIM:300908 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Premature ovarian insufficiency, Hashimoto thyroiditis, Female infertility, Celiac disease, High,... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Premature ovarian insufficiency, Hashimoto thyroiditis, Female infertility, Celiac disease, High,... |
ORPHA:99228 |
Monosomy X |
|
Premature ovarian insufficiency, Hashimoto thyroiditis, Female infertility, Celiac disease, High,... |
ORPHA:99226 |
Turner Syndrome |
|
Premature ovarian insufficiency, Hashimoto thyroiditis, Female infertility, Celiac disease, High,... |
ORPHA:881 |
Eisenmenger Syndrome |
|
Brain abscess, Elevated circulating C-reactive protein concentration, Abdominal distention, Hypoc... |
ORPHA:97214 |
Immunodeficiency 55 |
|
Absent natural killer cells, Recurrent skin infections, Eczema, Diarrhea, Neutropenia, Lymphopenia |
OMIM:617827 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Anorexia, Oral-phar... |
ORPHA:95455 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Peptic ulcer, Pituitary null cell adenoma, Pituitary corticotropic cell aden... |
ORPHA:276152 |
Acute Generalized Exanthematous Pustulosis |
|
Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosinophilia, Pustule, Facial edema, ... |
ORPHA:293173 |
Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration, Anorexia |
ORPHA:1302 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Cryptorchidism, Dehydration, Macroglossia, High palate, Oligohydramnios |
ORPHA:96191 |
Isolated Complex I Deficiency |
|
Increased serum pyruvate, Lethargy, Vomiting, Feeding difficulties |
ORPHA:2609 |
Esophageal Atresia |
|
Barrett esophagus, Intestinal malrotation, Polyhydramnios, Feeding difficulties in infancy, Pylor... |
ORPHA:1199 |
Congenital Myopathy 20 |
|
Chronic diarrhea, High palate |
OMIM:620310 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Diarrhea, Hepatosplenomegaly, Feed... |
OMIM:618278 |
Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Hypokalemia, Increased circulating renin level, Dehydration |
OMIM:607364 |
Abetalipoproteinemia |
|
Reticulocytosis, Decreased HDL cholesterol concentration, Acanthocytosis, Chronic diarrhea, Decre... |
ORPHA:14 |
Encephalitis Lethargica |
|
Lethargy, Bowel incontinence |
ORPHA:83600 |
Chronic Graft Versus Host Disease |
|
Pancytopenia, Fasciitis, Anorexia, Abdominal pain, Urinary bladder inflammation, Esophageal stric... |
ORPHA:99921 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Neutrophilia, Osteomyelitis, Skin rash, Elevated circulating C-reactive protein concentration, Ab... |
OMIM:612852 |
Leukocyte Adhesion Deficiency Type Ii |
|
Neutrophilia, Severe periodontitis, Palpebral edema, Microcytic anemia, Protruding tongue, Kerati... |
ORPHA:99843 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Diarrhea, Impotence, Constipation, Episodic vomiting, Pulmonary edema |
OMIM:105210 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration |
OMIM:620138 |
Biotinidase Deficiency |
|
Skin rash, Hyperammonemia, Conjunctivitis, Lethargy, Eczematoid dermatitis |
ORPHA:79241 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Nongranulomatous uveitis, Anterior uveitis, Skin rash, Elevated circulating C-... |
ORPHA:91500 |
Microgastria-Limb Reduction Defect Syndrome |
|
Intestinal malrotation, Hiatus hernia, Esophageal atresia, Abnormality of the spleen, Rectal atre... |
ORPHA:2538 |
Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Vomiting, Hy... |
ORPHA:466650 |
Cockayne Syndrome Type 1 |
|
Cryptorchidism, Diarrhea, Uveitis, Conjunctivitis, Increased blood urea nitrogen, Male hypogonadi... |
ORPHA:90321 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Ileal atresia, Abdominal distention, Peritonitis, Pyelonephritis, Microcolon, Oligohydramnios |
OMIM:619351 |
Deeah Syndrome |
|
Decreased hemoglobin concentration, Decreased response to growth hormone stimulation test, Anteri... |
OMIM:619004 |
Glycerol Kinase Deficiency |
|
Hypertriglyceridemia, Hyperglycerolemia, Chronic pancreatitis, Cryptorchidism, Lethargy, Episodic... |
OMIM:307030 |
Trichohepatoenteric Syndrome 1 |
|
Villous atrophy, Increased mean platelet volume, Polyhydramnios, Splenomegaly, Increased serum ir... |
OMIM:222470 |
Blue Diaper Syndrome |
|
Diarrhea, Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
Hereditary Hyperekplexia |
|
Gastroesophageal reflux, Esophagitis, Hiatus hernia |
ORPHA:3197 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Lethargy, Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper concentra... |
OMIM:620306 |
Mucoepithelial Dysplasia, Hereditary |
|
Pneumonia, Eosinophilia, Chronic diarrhea, Recurrent pneumonia, Chronic mucocutaneous candidiasis... |
OMIM:158310 |
Fg Syndrome Type 1 |
|
Abnormal large intestine morphology, Malrotation of colon, Pyloric stenosis, Cryptorchidism, Gast... |
ORPHA:93932 |
Japanese Encephalitis |
|
Hyponatremia, Neutrophilia, Anorexia, Abdominal pain, Diarrhea, Vomiting, Infectious encephalitis... |
ORPHA:79139 |
Dubowitz Syndrome |
|
Hypoparathyroidism, Anal stenosis, Eczema, Abnormality of neutrophils, Malabsorption, Thrombocyto... |
ORPHA:235 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Bicarbonaturia, Generalized aminoaciduria, Dehydration, Hypophosphatemia, Hypokalem... |
ORPHA:3337 |
Cryoglobulinemia, Familial Mixed |
|
Anasarca, Elevated circulating creatinine concentration |
OMIM:123550 |
Immunodeficiency 9 |
|
Stomatitis, Chronic diarrhea, Hypoplasia of the thymus, Recurrent aphthous stomatitis |
OMIM:612782 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Malignant gastrointestinal tract tumors, Adrenal hyperplasia, Neoplasm of the stomach, Pancreatob... |
ORPHA:99889 |
Histiocytoid Cardiomyopathy |
|
Cleft palate, Polycystic ovaries, Vomiting, Lethargy, Pulmonary edema |
ORPHA:137675 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... |
OMIM:300539 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... |
OMIM:613095 |
Trichohepatoneurodevelopmental Syndrome |
|
Polyhydramnios, Splenomegaly, Chronic diarrhea, Feeding difficulties, Macroglossia, Gastroesophag... |
OMIM:618268 |
Renal Hypoplasia |
|
Dehydration |
ORPHA:93101 |
Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Diarrhea |
OMIM:252920 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Reye syndrome-like episodes, Diarrhea, Vomiting, Hyperuricemia, Hyperalaninemia, Neonatal hyperbi... |
ORPHA:348 |
Hereditary Chronic Pancreatitis |
|
Elevated circulating C-reactive protein concentration, Abdominal pain, Leukocytosis, Recurrent pa... |
ORPHA:676 |
Neuroblastoma, Susceptibility To, 1 |
|
Diarrhea, Anemia, Abdominal pain |
OMIM:256700 |
Hyperzincemia With Functional Zinc Depletion |
|
Increased serum zinc, Diarrhea, Skin rash |
OMIM:601979 |
Autosomal Dominant Polycystic Kidney Disease |
|
Pancreatic cysts, Elevated circulating creatinine concentration, Pyelonephritis, Pituitary growth... |
ORPHA:730 |
Trichothiodystrophy 1, Photosensitive |
|
Intestinal obstruction, Malabsorption, Chronic diarrhea, Keratoconjunctivitis sicca, Hypogonadism... |
OMIM:601675 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Elevated circulating creatinine concentration, Hyperuricemia, Gout |
ORPHA:79233 |
Mucopolysaccharidosis, Type Iiia |
|
Splenomegaly, Diarrhea |
OMIM:252900 |
Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Osteomyelitis, Osteoarthritis, Diarrhea, Constipation, Septic arthritis |
OMIM:608654 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Splenomegaly, Diarrhea |
OMIM:619849 |
Kufor-Rakeb Syndrome |
|
Bowel incontinence, Bradykinesia, Apathy, Dysphagia, Lethargy |
ORPHA:306674 |
Steinert Myotonic Dystrophy |
|
Intestinal pseudo-obstruction, Decreased response to growth hormone stimulation test, Hypercholes... |
ORPHA:273 |
Posterior Urethral Valve |
|
Lethargy, Oligohydramnios, Pyelonephritis |
ORPHA:93110 |
Ataxia-Telangiectasia |
|
Sinusitis, Female hypogonadism, Elevated circulating alpha-fetoprotein concentration, Chronic dia... |
OMIM:208900 |
Farber Disease |
|
Chronic diarrhea, Hydrops fetalis, Feeding difficulties, Anemia, Hepatosplenomegaly, Arthritis, A... |
ORPHA:333 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Lethargy, Feeding difficulties |
OMIM:201470 |
Chikungunya |
|
Diminished motivation, Maculopapular exanthema, Skin rash, Erythema nodosum, Facial edema, Diarrh... |
ORPHA:324625 |
Multiple Endocrine Neoplasia Type 2 |
|
Aganglionic megacolon, Hypercalcemia, Thyroid C cell hyperplasia, Abdominal distention, Abnormal ... |
ORPHA:653 |
Acute Liver Failure |
|
Gastrointestinal hemorrhage, Skin rash, Diarrhea, Hepatitis, Hyperammonemia, Depression, Cerebral... |
ORPHA:90062 |
Pneumocystosis |
|
Abnormal neutrophil count, Acute infectious pneumonia, Interstitial pneumonitis, Chronic oral can... |
ORPHA:723 |
Papillorenal Syndrome |
|
Elevated circulating creatinine concentration, Edema |
OMIM:120330 |
Senior-Loken Syndrome 1 |
|
Elevated circulating creatinine concentration, Anemia |
OMIM:266900 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Lethargy |
OMIM:229700 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Feeding difficulties in infancy, Cryptorchidism, Chronic diarrhea, Chronic constipation, Gastroes... |
ORPHA:500055 |
Encephalopathy, Ethylmalonic |
|
Elevated circulating butyrylcarnitine concentration, Chronic diarrhea, Feeding difficulties |
OMIM:602473 |
Sandhoff Disease |
|
Chronic diarrhea, Episodic abdominal pain, Hepatosplenomegaly, Macroglossia, Impotence |
OMIM:268800 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
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Diarrhea, Feeding difficulties, Constipation, High palate, Otitis media, Intermittent diarrhea |
OMIM:618050 |
Frontometaphyseal Dysplasia 2 |
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Feeding difficulties in infancy, Pyloric stenosis, Cryptorchidism, Cleft palate, Ulcerative colit... |
OMIM:617137 |
Tracheobronchopathia Osteochondroplastica |
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Recurrent pneumonia, Pneumonia, Esophagitis |
ORPHA:3348 |
Dubowitz Syndrome |
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Aplastic anemia, Eczema, Feeding difficulties in infancy, Cryptorchidism, Velopharyngeal insuffic... |
OMIM:223370 |
Alg9-Cdg |
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Villous atrophy, Pericardial effusion, Diarrhea, Hydrops fetalis, Hypoplasia of the ovary, Gastro... |
ORPHA:79328 |
Mucopolysaccharidosis, Type Iiid |
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Splenomegaly, Diarrhea, Dysphagia, Macroglossia, Tube feeding, Recurrent otitis media |
OMIM:252940 |
Ethylmalonic Encephalopathy |
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Diarrhea |
ORPHA:51188 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Anterior pituitary hypoplasia, Edema, Polyhydramnios, Conjugated hyperbilirubinemia, Splenomegaly... |
OMIM:619534 |
Pancreatoblastoma |
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Elevated maternal serum alpha-fetoprotein, Abdominal pain, Abdominal distention, Diarrhea, Vomiti... |
ORPHA:677 |
Hypouricemia, Renal, 1 |
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Elevated circulating creatinine concentration, Hypouricemia |
OMIM:220150 |
Complete Atrioventricular Septal Defect |
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Lethargy, Recurrent pneumonia, Feeding difficulties |
ORPHA:1329 |
Glycine Encephalopathy |
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Lethargy, Poor suck, Hyperglycinemia |
ORPHA:407 |
Hyperoxaluria, Primary, Type I |
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Hyperoxaluria, Dehydration |
OMIM:259900 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
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Acute hepatic failure, Reye syndrome-like episodes, Abdominal distention, Osteomyelitis leading t... |
OMIM:256810 |
Nijmegen Breakage Syndrome |
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Hemolytic anemia, Anal stenosis, Autoimmune hemolytic anemia, Thrombocytopenia, Anorectal anomaly... |
ORPHA:647 |
Isolated Permanent Neonatal Diabetes Mellitus |
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Pancreatic hypoplasia, Dehydration |
ORPHA:99885 |
Erythroderma Desquamativum |
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Diarrhea, Seborrheic dermatitis |
ORPHA:314 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
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Supernumerary nipple, Pyloric stenosis, Submucous cleft hard palate, Chronic diarrhea, High palate |
ORPHA:457279 |
Ogden Syndrome |
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Tube feeding, Pulmonary edema, Eczema, Lymphedema, Cryptorchidism, Diarrhea, Narrow palate, Feedi... |
OMIM:300855 |
Glycogen Storage Disease Ia |
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Hyperlipidemia, Gout, Hyperuricemia, Protuberant abdomen, Hepatocellular carcinoma, Intermittent ... |
OMIM:232200 |
Neonatal Inflammatory Skin And Bowel Disease |
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Chapped lip, Recurrent bacterial skin infections, Psoriasiform dermatitis, Anal fissure, Pustule,... |
ORPHA:294023 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
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Decreased serum creatinine |
ORPHA:289601 |
Renal Cysts And Diabetes Syndrome |
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Elevated circulating creatinine concentration, Gout, Reduced sperm motility, Hyperuricemia, Pancr... |
OMIM:137920 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
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Decreased response to growth hormone stimulation test, Poor appetite, Feeding difficulties in inf... |
ORPHA:96182 |
Gitelman Syndrome |
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Neoplasm of the pancreas, Nausea and vomiting, Abdominal pain, Pericardial effusion, Diarrhea, Hy... |
ORPHA:358 |
Congenital Disorder Of Glycosylation, Type Im |
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Inflammatory abnormality of the skin, Vomiting, Diarrhea, Increased circulating free fatty acid l... |
OMIM:610768 |
Trichothiodystrophy 5, Nonphotosensitive |
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Chronic diarrhea, Panhypopituitarism, Decreased testicular size |
OMIM:300953 |
Cerebrotendinous Xanthomatosis |
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Cholelithiasis, Pseudobulbar paralysis, Diarrhea, Abnormal circulating cholesterol concentration |
OMIM:213700 |
Pitt-Hopkins Syndrome |
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Aganglionic megacolon, Supernumerary nipple, Hiatus hernia, Cryptorchidism, Feeding difficulties,... |
ORPHA:2896 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
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Decreased hemoglobin concentration, Cryptorchidism, Chronic diarrhea, Chronic constipation, High ... |
OMIM:619005 |
Congenital Disorder Of Glycosylation, Type It |
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Elevated circulating creatine kinase concentration, Chronic diarrhea, Hepatitis, Cleft palate, Ch... |
OMIM:614921 |
Complement Component 5 Deficiency |
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Intractable diarrhea, Generalized seborrheic dermatitis |
OMIM:609536 |
Cystinosis, Adult Nonnephropathic |
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Elevated circulating creatinine concentration |
OMIM:219750 |
Immunodeficiency 47 |
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Normocytic anemia, Accessory spleen, Decreased circulating copper concentration, Splenomegaly, Ch... |
OMIM:300972 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
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Hypoalbuminemia, Secretory diarrhea, Acne, Seborrheic dermatitis |
OMIM:614441 |
Middle Ear Neuroendocrine Tumor |
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Chronic diarrhea |
ORPHA:100084 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
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Conjugated hyperbilirubinemia, Chronic diarrhea |
OMIM:619484 |
Bannayan-Riley-Ruvalcaba Syndrome |
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Intestinal polyposis, Abnormal large intestine morphology, Lymphedema, Narrow palate, Hamartomato... |
ORPHA:109 |
Structural Heart Defects And Renal Anomalies Syndrome |
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Elevated circulating creatinine concentration, Generalized edema |
OMIM:617478 |
Dermatosparaxis Ehlers-Danlos Syndrome |
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Gastroesophageal reflux, Esophagitis, Hiatus hernia |
ORPHA:1901 |
Hurler Syndrome |
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Splenomegaly, Chronic diarrhea, Feeding difficulties, Depression, Macroglossia, Rhinitis |
ORPHA:93473 |
Localized Scleroderma |
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Fasciitis, Uveitis, Arthritis, Gastroesophageal reflux, Esophagitis, Hashimoto thyroiditis |
ORPHA:90289 |
Bronchial Neuroendocrine Tumor |
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Pneumonia, Bowel urgency, Poor appetite, Elevated circulating growth hormone concentration, Anore... |
ORPHA:97287 |
Leptospirosis |
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Nausea and vomiting, Pericarditis, Skin rash, Anorexia, Abdominal pain, Diarrhea, Hepatitis, Uvei... |
ORPHA:509 |
Mucopolysaccharidosis Type 3 |
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Malabsorption, Splenomegaly, Intermittent diarrhea, Macroglossia, Constipation, Otitis media, Dys... |
ORPHA:581 |
Scorpion Envenomation |
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Acute pancreatitis, Increased circulating NT-proBNP concentration, Edema, Abdominal pain, Myocard... |
ORPHA:466677 |
Riddle Syndrome |
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Pneumonia, Elevated circulating alpha-fetoprotein concentration, Abdominal pain, Diarrhea, Recurr... |
ORPHA:420741 |
9Q33.3Q34.11 Microdeletion Syndrome |
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Cryptorchidism, Constipation, Esophagitis, Dysphagia |
ORPHA:495818 |
Diamond-Blackfan Anemia 21 |
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Erythroid hypoplasia, Thrombocytopenia, Chronic diarrhea, Anemia |
OMIM:620072 |
Serotonin Syndrome |
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Diarrhea, Hepatic failure, Nausea |
ORPHA:43116 |
African Trypanosomiasis |
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Pericarditis, Abnormality of the menstrual cycle, Keratitis, Splenomegaly, Myocarditis, Diarrhea,... |
ORPHA:3385 |
Aspartylglucosaminuria |
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Aspartylglucosaminuria, Acne, Diarrhea, Vacuolated lymphocytes, Macroglossia, Neutropenia, Macroo... |
OMIM:208400 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
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Achalasia, Elevated circulating creatine kinase concentration, Esophagitis, Feeding difficulties |
OMIM:615356 |
Hydranencephaly |
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Lethargy, Atrophic pituitary gland |
ORPHA:2177 |
Arterial Tortuosity Syndrome |
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Hiatus hernia, Pyloric stenosis, Myocarditis, Gastroesophageal reflux, Esophagitis, Median cleft ... |
ORPHA:3342 |
Cardiogenic Shock |
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Elevated circulating creatinine concentration |
ORPHA:97292 |
Familial Gestational Hyperthyroidism |
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Goiter, Diarrhea, Thyroid hyperplasia |
ORPHA:99819 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
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Goiter, Diarrhea, Thyroid hyperplasia |
ORPHA:424 |
Ectodermal Dysplasia And Immunodeficiency 2 |
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Aplasia of the sweat glands, Splenomegaly, Chronic diarrhea, Recurrent infection of the gastroint... |
OMIM:612132 |
Mowat-Wilson Syndrome |
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Aganglionic megacolon, Bowel incontinence, Cleft hard palate, Pyloric stenosis, Gastrointestinal ... |
ORPHA:2152 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
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Intestinal malrotation, Exocrine pancreatic insufficiency, Oligohydramnios, Feeding difficulties,... |
ORPHA:2255 |
Lipodystrophy, Familial Partial, Type 7 |
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Hypertriglyceridemia, Diarrhea, Feeding difficulties, Vomiting, Recurrent pancreatitis, Dysphagia... |
OMIM:606721 |
Viss Syndrome |
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Chronic gastritis, Polyhydramnios, High, narrow palate, High palate, Gastroesophageal reflux, Bro... |
OMIM:619472 |
Omphalocele Syndrome, Shprintzen-Goldberg Type |
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Feeding difficulties in infancy, Chronic diarrhea, Gastroesophageal reflux, Anal atresia |
ORPHA:3164 |
Heart Defects, Congenital, And Other Congenital Anomalies |
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Absent gallbladder, Intestinal malrotation, Colon perforation, Pancreatic hypoplasia, Microcolon |
OMIM:600001 |
Helsmoortel-Van Der Aa Syndrome |
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Decreased response to growth hormone stimulation test, High, narrow palate, Cryptorchidism, Chron... |
OMIM:615873 |
Occipital Horn Syndrome |
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Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Hi... |
OMIM:304150 |
Zttk Syndrome |
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Absent gallbladder, Feeding difficulties in infancy, Submucous cleft hard palate, Chronic diarrhe... |
OMIM:617140 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
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Chapped lip, Recurrent skin infections, Abnormal tongue morphology, Chronic diarrhea, Recurrent p... |
ORPHA:158668 |
Pineoblastoma |
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Lethargy, Pinealoma |
ORPHA:251909 |
Occipital Horn Syndrome |
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Gastroparesis, Hiatus hernia, High, narrow palate, Hepatitis, Gastroesophageal reflux, Esophagiti... |
ORPHA:198 |
Nmda Receptor Encephalitis |
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Ovarian teratoma, Diarrhea, Depression, Vomiting, Testicular teratoma, Mania |
ORPHA:217253 |
Restrictive Dermopathy |
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Aplasia/Hypoplastia of the eccrine sweat glands, Submucous cleft hard palate, Microcolon, Polyhyd... |
ORPHA:1662 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
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Acne, Secretory diarrhea, Seborrheic dermatitis |
OMIM:167100 |
Cerebrotendinous Xanthomatosis |
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Cholelithiasis, Chronic diarrhea, Depression |
ORPHA:909 |
Mucopolysaccharidosis Type 2, Severe Form |
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Splenomegaly, Chronic diarrhea, Hepatosplenomegaly, Macroglossia, Arthritis |
ORPHA:217085 |
Mucopolysaccharidosis Type 2, Attenuated Form |
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Splenomegaly, Chronic diarrhea, Hepatosplenomegaly, Macroglossia, Arthritis |
ORPHA:217093 |
Mucopolysaccharidosis Type 2 |
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Splenomegaly, Macroglossia, Chronic diarrhea, Hip osteoarthritis |
ORPHA:580 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Absent gallbladder, Gastroparesis, Feeding difficulties in infancy, Gastrointestinal dysmotility,... |
ORPHA:500150 |