Inflammatory Bowel Disease 3 |
|
Ulcerative colitis |
OMIM:604519 |
Inflammatory Bowel Disease 21 |
|
Ulcerative colitis |
OMIM:612354 |
Inflammatory Bowel Disease 29 |
|
Crohn's disease, Ulcerative colitis |
OMIM:618077 |
Inflammatory Bowel Disease 13 |
|
Inflammation of the large intestine |
OMIM:612244 |
Inflammatory Bowel Disease (Crohn Disease) 19 |
|
Inflammation of the large intestine |
OMIM:612278 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Maturity-onset diabetes of the young, Maternal diabetes |
OMIM:616329 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Truncal obesity, Large for ... |
ORPHA:293964 |
Maturity-Onset Diabetes Of The Young, Type 4 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:606392 |
Maturity-Onset Diabetes Of The Young, Type 7 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:610508 |
Type 1 Diabetes Mellitus 15 |
|
Type I diabetes mellitus, Diabetes mellitus |
OMIM:601666 |
Maturity-Onset Diabetes Of The Young, Type 14 |
|
Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:616511 |
Type 1 Diabetes Mellitus 2 |
|
Type I diabetes mellitus, Diabetes mellitus |
OMIM:125852 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity, Increas... |
ORPHA:71529 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Small for gestational age, Maturity-onset diabet... |
ORPHA:324575 |
Short Stature Due To Ghsr Deficiency |
|
Decreased body weight, Hypoglycemia, Delayed puberty, Decreased serum insulin-like growth factor ... |
ORPHA:314811 |
Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... |
ORPHA:71526 |
Type 1 Diabetes Mellitus 6 |
|
Diabetes mellitus |
OMIM:601941 |
Type 1 Diabetes Mellitus 10 |
|
Diabetes mellitus |
OMIM:601942 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia |
OMIM:600496 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hyp... |
ORPHA:276580 |
Buschke-Ollendorff Syndrome |
|
Joint stiffness, Connective tissue nevi, Flexion contracture, Osteopoikilosis |
OMIM:166700 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia, Large for gestational age, Truncal obesity |
OMIM:240900 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Large for gestati... |
OMIM:601820 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
Epilepsy With Bilateral Occipital Calcifications |
|
Celiac disease |
OMIM:226810 |
Enterocolitis |
|
Ulcerative colitis, Abdominal distention, Enterocolitis, Hematochezia |
OMIM:226150 |
Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hyp... |
ORPHA:276575 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... |
OMIM:610021 |
Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Polyphagia, Hyperinsulinemia |
OMIM:618406 |
Pituitary Carcinoma |
|
Pituitary growth hormone cell adenoma, Enlarged pituitary gland, Elevated circulating growth horm... |
ORPHA:300385 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Secretory diarrhea, Abdominal distention, Inflammation of the large intestine, Elevated fecal sodium |
OMIM:616868 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Obesity, Polyphagia, Hyperinsulinemia |
ORPHA:329249 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hypoketotic hypoglyce... |
ORPHA:276556 |
Transient Neonatal Diabetes Mellitus |
|
Failure to thrive, Hypoinsulinemia, Small for gestational age, Maturity-onset diabetes of the you... |
ORPHA:99886 |
Bleeding Disorder, Platelet-Type, 16 |
|
Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Ane... |
OMIM:187800 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Villous atrophy, Protracted diarrhea, Death in infancy, Abnormal intestine morphology |
OMIM:251850 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Crohn's disease, Colitis, Enterocolitis, Folliculitis, Pyoderma, Hematochezia, Perianal abscess |
OMIM:613148 |
Short Stature Due To Partial Ghr Deficiency |
|
Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty |
ORPHA:314802 |
Lactose Intolerance, Adult Type |
|
Diarrhea, Decreased small intestinal mucosa lactase level, Lactose intolerance |
OMIM:223100 |
Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... |
ORPHA:263458 |
Colonic Varices Without Portal Hypertension |
|
Colonic varices, Intestinal bleeding |
OMIM:120440 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Polyphagia, Hyperinsulinemia, Obesity |
ORPHA:369873 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Enterocolitis, Folliculitis, Pancolitis, Perianal abscess, Rectovaginal fistula, Enterocutaneous ... |
OMIM:612567 |
Bleeding Disorder, Platelet-Type, 24 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619271 |
Bleeding Disorder, Platelet-Type, 15 |
|
Increased mean platelet volume, Thrombocytopenia, Platelet anisocytosis |
OMIM:615193 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Adrenal insufficiency, Adrenocorticotropic hormone deficiency, Decreased response to growth hormo... |
OMIM:609734 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Constipation, Abdominal distention, Enterocolitis, Vomiting, Abnormality of enteric ganglion morp... |
OMIM:142623 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
Insulin Autoimmune Syndrome |
|
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... |
ORPHA:411593 |
Type 1 Diabetes Mellitus |
|
Polyphagia, Polydipsia, Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Ataxia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Abnormal circulating insulin concentration, Decreased circulating free T3, Increased circulating ... |
ORPHA:171706 |
Melorheostosis With Osteopoikilosis |
|
Abnormal cortical bone morphology, Multiple lipomas, Osteopoikilosis |
ORPHA:1879 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Hypoglycemia, Reduced circulating growth hormone concentration, Decreased serum insulin-like grow... |
OMIM:262400 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Bloody diarrhea, Ulcerative colitis |
OMIM:619398 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus |
OMIM:602485 |
Leptin Receptor Deficiency |
|
Decreased response to growth hormone stimulation test, Hypergonadotropic hypogonadism, Abnormal e... |
OMIM:614963 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperinsulinemia, Increased serum leptin, Polyphagia, Insulin resistance, Obesity |
OMIM:617885 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyper... |
ORPHA:79299 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Bloody diarrhea, Ileitis, Gastritis, Abdominal pain, Pancolitis, Vomiting, Protein-losing enterop... |
OMIM:619079 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypo... |
OMIM:256450 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... |
ORPHA:67044 |
Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
Insulinoma |
|
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... |
ORPHA:97279 |
Thrombocytopenia 4 |
|
Thrombocytopenia, Abnormal platelet volume |
OMIM:612004 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets |
OMIM:608404 |
3-Methylglutaconic Aciduria Type 1 |
|
Hypoglycemia, Failure to thrive, Progressive cerebellar ataxia |
ORPHA:67046 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609968 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypoglycemia, Ataxia, Hypogonadism, Central hypothyroidism |
OMIM:616113 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
RCAD (renal cysts and diabetes) |
|
Abnormality of the liver, Diabetes mellitus |
DECIPHER:47 |
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
Dentin Dysplasia |
|
Increased bone mineral density, Abnormal dental enamel morphology |
ORPHA:1653 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Hypoglycemia, Hypothyroidism, Impaired growth-hormone response to insulin stimulation test, Adren... |
OMIM:262700 |
Mucocutaneous Ulceration, Chronic |
|
Ileitis |
OMIM:618287 |
Diarrhea 9 |
|
Villous atrophy, Diarrhea |
OMIM:618168 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Colitis, Diarrhea, Perioral eczema, Recurrent sinusitis, Recurrent aphthous stomatitis |
OMIM:613960 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Crohn's disease, Abdominal pain, Diarrhea, Inflammation of the large intestine, Intestinal obstru... |
OMIM:266600 |
Ficolin 3 Deficiency |
|
Necrotizing enterocolitis |
OMIM:613860 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Hyperproinsulinemia |
|
Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
Macrosomia Adiposa Congenita |
|
Adrenocortical adenoma, Obesity, Polyphagia, Large for gestational age |
OMIM:248100 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Failure to thrive, Hyperinsulinemia |
OMIM:606528 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Temple Syndrome |
|
Type II diabetes mellitus, Precocious puberty, Decreased response to growth hormone stimulation t... |
ORPHA:254516 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Growth Hormone Deficiency, Isolated Partial |
|
Decreased response to growth hormone stimulation test, Small pituitary gland |
OMIM:615925 |
X-Linked Acrogigantism |
|
Increased circulating insulin-like growth factor 1 concentration, Decreased thyroid-stimulating h... |
ORPHA:300373 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Small pituitary gland, Cleft palate |
OMIM:614880 |
Inflammatory Bowel Disease 11 |
|
Diarrhea, Inflammation of the large intestine, Abdominal pain, Hematochezia |
OMIM:191390 |
Jejunal Atresia |
|
Jejunal atresia |
OMIM:243600 |
Giant platelet syndrome with thrombocytopenia |
|
Thrombocytopenia, Giant platelets |
OMIM:137560 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density |
OMIM:602475 |
Leptin Deficiency Or Dysfunction |
|
Decreased serum leptin, Abnormal eating behavior, Polyphagia, Hypogonadism, Obesity |
OMIM:614962 |
Diarrhea 11, Malabsorptive, Congenital |
|
Villous atrophy, Diarrhea |
OMIM:618662 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... |
ORPHA:766 |
Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Panhypopituitarism, Anterior hypopituitarism, Increased circulating pro... |
ORPHA:91351 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Maturity-onset diabetes of the young, Obesity, Overweight, Diabetes mellitus |
OMIM:613375 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... |
ORPHA:276608 |
Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... |
ORPHA:66628 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Hypoglycemia, Failure to thrive, Unsteady gait |
OMIM:610090 |
Growth Hormone Insensitivity Syndrome |
|
Failure to thrive, Type II diabetes mellitus, Truncal obesity, Hypoglycemia, Hypogonadism, Insuli... |
ORPHA:181393 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Leukocyte inclusi... |
OMIM:155100 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hypoglycemia |
OMIM:615158 |
5-Oxoprolinase Deficiency |
|
Vomiting, Diarrhea, Enterocolitis, Abdominal pain |
OMIM:260005 |
Carcinoma Of Esophagus |
|
Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus, Dysphagia, Abnormal intestine mo... |
ORPHA:70482 |
Melorheostosis |
|
Failure to thrive, Joint stiffness, Increased bone mineral density, Arthritis, Atypical scarring ... |
ORPHA:2485 |
Ghosal Hematodiaphyseal Dysplasia |
|
Hyperostosis cranialis interna, Increased bone mineral density, Myelofibrosis, Leukopenia, Refrac... |
OMIM:231095 |
Glycogen Storage Disease Vi |
|
Hypoglycemia, Failure to thrive in infancy |
OMIM:232700 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... |
ORPHA:179494 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Villous atrophy, Intractable diarrhea |
OMIM:613217 |
Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Panhypopituitarism, Anterior hypopituita... |
ORPHA:91350 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609975 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Reticulocyto... |
OMIM:615631 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, Hepatic failure |
OMIM:261650 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Malabsorption, Vomiting, Nausea, Abnormal small intestinal mucosa morphology, Chronic diarrhea, D... |
ORPHA:103907 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Hyperglycemia |
OMIM:307500 |
Osteomesopyknosis |
|
Abnormal cortical bone morphology, Increased bone mineral density |
ORPHA:2777 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia |
OMIM:609016 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Failure to thrive, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypo... |
OMIM:606762 |
Type 2 Diabetes Mellitus |
|
Insulin resistance, Type II diabetes mellitus |
OMIM:125853 |
Isolated Osteopoikilosis |
|
Joint stiffness, Abnormal bone ossification, Sclerosis of foot bone, Increased bone mineral densi... |
ORPHA:166119 |
Gastroesophageal Reflux |
|
Esophagitis, Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus |
OMIM:109350 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
Bile Acid Malabsorption, Primary, 1 |
|
Increased fecal bile acid, Fat malabsorption, Chronic diarrhea, Steatorrhea |
OMIM:613291 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia |
ORPHA:366 |
Iron-Refractory Iron Deficiency Anemia |
|
Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis |
OMIM:206200 |
Renal Glucosuria |
|
Polyphagia, Polydipsia, Glycosuria |
OMIM:233100 |
Isolated Growth Hormone Deficiency, Type Iv |
|
Anterior pituitary hypoplasia, Decreased serum insulin-like growth factor 1, Decreased response t... |
OMIM:618157 |
Slc35A1-Cdg |
|
Cellulitis, Giant platelets, Neutropenia, Thrombocytopenia, Abnormal platelet granules |
ORPHA:238459 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Villous atrophy, Diarrhea, Protein-losing enteropathy, Vomiting |
OMIM:615863 |
Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
Bardet-Biedl Syndrome 22 |
|
Large for gestational age, Obesity, Polyphagia, Hypogonadism |
OMIM:617119 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Acute myeloid ... |
ORPHA:86841 |
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
High palate, Hypogonadotropic hypogonadism, Cryptorchidism, Small pituitary gland |
OMIM:612702 |
Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Giant ... |
OMIM:231200 |
Mody |
|
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal circulating insulin... |
ORPHA:552 |
Diarrhea 12, With Microvillus Atrophy |
|
Microvillar PAS-positive secretory granules, Vomiting, Villous atrophy, Secretory diarrhea, Micro... |
OMIM:619445 |
Visceral Myopathy 2 |
|
Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Necrotizing en... |
OMIM:619350 |
Thyroid Hormone Metabolism, Abnormal, 1 |
|
Hypothyroidism, Decreased circulating free T3, Elevated circulating thyroid-stimulating hormone c... |
OMIM:609698 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
Overhydrated Hereditary Stomatocytosis |
|
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... |
ORPHA:3203 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Small for gestational age, Diab... |
OMIM:262190 |
Bardet-Biedl Syndrome 9 |
|
Polydipsia, Truncal obesity, Polyphagia, Obesity, Hyperglycemia |
OMIM:615986 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Esophageal neoplasm, Gastroesophageal reflux, Abnormal esophagus physiology, Dysphagia, Gastroint... |
ORPHA:2198 |
Osteopetrosis, Autosomal Recessive 8 |
|
Failure to thrive, Splenomegaly, Osteopetrosis, Anemia, Thrombocytopenia |
OMIM:615085 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Van Buchem Disease |
|
Thickened cortex of long bones, Cranial hyperostosis, Increased bone mineral density |
OMIM:239100 |
Obesity, Hyperphagia, And Developmental Delay |
|
Obesity, Polyphagia |
OMIM:613886 |
Craniopharyngioma |
|
Enlarged pituitary gland, Type II diabetes mellitus, Central adrenal insufficiency, Abnormal hypo... |
ORPHA:54595 |
Mehmo Syndrome |
|
Inability to walk, Decreased response to growth hormone stimulation test, Small for gestational a... |
OMIM:300148 |
Myh9-Related Disease |
|
Increased mean platelet volume, Congenital thrombocytopenia, Neutrophil inclusion bodies, Giant p... |
ORPHA:182050 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hypoglycemia, Primary adrenal insufficiency, Failure to thrive, Hypogonadism |
OMIM:617872 |
Endosteal Hyperostosis, Worth Type |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicular sclerosis, Craniofacial... |
ORPHA:2790 |
Intermediate Osteopetrosis |
|
Recurrent fractures, Cortical sclerosis, Osteomyelitis, Osteosclerosis of the base of the skull, ... |
ORPHA:210110 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Hypoglycemia |
OMIM:616111 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Congenital Short Bowel Syndrome |
|
Intestinal atresia, Steatorrhea, Intestinal malrotation, Projectile vomiting, Abnormal peristalsi... |
OMIM:615237 |
Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis, Dentinogenesis imperfecta limited to primary teeth |
OMIM:125440 |
Polyendocrine-Polyneuropathy Syndrome |
|
Ataxia, Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, H... |
ORPHA:453533 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Graves disease, Increased circulating free T3, Polyp... |
OMIM:275000 |
Flynn-Aird Syndrome |
|
Increased bone density with cystic changes, Joint stiffness, Osteoporosis, Increased bone mineral... |
OMIM:136300 |
Fechtner syndrome |
|
Leukocyte inclusion bodies, Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets |
OMIM:153640 |
Secondary Short Bowel Syndrome |
|
Malabsorption, Constipation, Enterocolitis, Intestinal atresia, Steatorrhea, Small intestinal dys... |
ORPHA:95427 |
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome |
|
Adrenocorticotropic hormone deficiency, Decreased response to growth hormone stimulation test, Go... |
ORPHA:231720 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Maternal diabetes, Hyperglycemia |
OMIM:610582 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Hypoglycemia, Failure to thrive in infancy |
ORPHA:6 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anemia of inadequate production, Splenomegaly, Small for gestational age, Anisocytosis, Schistocy... |
OMIM:224120 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia |
ORPHA:35878 |
Lactase Deficiency, Congenital |
|
Diarrhea, Decreased small intestinal mucosa lactase level, Lactose intolerance |
OMIM:223000 |
Huntington Disease |
|
Gait imbalance, Inability to walk, Bradykinesia, Decreased body mass index, Gait disturbance, Pol... |
ORPHA:399 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Splenomegaly, Anemia, Ani... |
OMIM:613673 |
Insulinomatosis And Diabetes Mellitus |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... |
OMIM:147630 |
Osteochondrosis Of The Metatarsal Bone |
|
Joint stiffness, Sclerosis of foot bone, Thickened cortex of bones, Arthritis |
ORPHA:564003 |
Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Decreased response to growth hormone stimulation test, Hypergonadotropic hypog... |
OMIM:606407 |
Congenital Disorder Of Glycosylation, Type Iiq |
|
Small pituitary gland |
OMIM:617395 |
Chronic Intestinal Pseudoobstruction |
|
Intestinal malrotation, Abnormal intestine morphology, Patent ductus arteriosus, Pyloric stenosis |
ORPHA:2978 |
Pancreatic Lipase Deficiency |
|
Fat malabsorption, Steatorrhea |
OMIM:614338 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypoglycemia, Failure to thrive, Small for gestational age |
OMIM:614702 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11 |
|
Hypoglycemia, Small for gestational age |
ORPHA:231147 |
Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Broad-based gait, Obesity, Polyphagia, Ataxia |
ORPHA:411515 |
Immunodeficiency 37 |
|
Colitis, Infectious encephalitis |
OMIM:616098 |
Osteopetrosis, Autosomal Dominant 1 |
|
Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones, Generalized osteosclerosis |
OMIM:607634 |
Immunodeficiency 31C |
|
Villous atrophy, Diarrhea, Abnormal intestine morphology |
OMIM:614162 |
Sclerosteosis |
|
Abnormal cortical bone morphology, Increased bone mineral density, Craniofacial hyperostosis |
ORPHA:3152 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Hypoglycemia, Decreased body weight, Neonatal hypoglycemia, Small for gestational age |
ORPHA:231140 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Failure to thrive, Ketotic hypoglycemia, Glycosuria, Lethargy |
ORPHA:2089 |
Pituitary Hormone Deficiency, Combined, 3 |
|
Gonadotropin deficiency, Anterior hypopituitarism, Decreased response to growth hormone stimulati... |
OMIM:221750 |
Dysplastic Cortical Hyperostosis |
|
Abnormal cortical bone morphology, Increased bone mineral density, Splenomegaly |
ORPHA:2204 |
Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Polyphagia |
ORPHA:163690 |
Mueller-Weiss Syndrome |
|
Joint stiffness, Sclerosis of foot bone, Limitation of movement at ankles, Arthritis, Knee osteoa... |
ORPHA:566943 |
Pituicytoma |
|
Abnormality of the pituitary gland, Decreased serum testosterone concentration, Decreased respons... |
ORPHA:251623 |
Vascular Hyalinosis |
|
Malabsorption, Diarrhea, Protein-losing enteropathy, Hematochezia |
OMIM:277175 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis |
ORPHA:88643 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypogonadotropic hypogonadism, Polyphagia, Obesity |
ORPHA:177910 |
Tsh-Secreting Pituitary Adenoma |
|
Abnormality of the pituitary gland, Adrenocorticotropic hormone deficiency, Enlarged pituitary gl... |
ORPHA:91347 |
Pelger-Huet Anomaly |
|
Failure to thrive, Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant plate... |
OMIM:169400 |
Meningioma |
|
Enlarged pituitary gland, Decreased serum testosterone concentration, Reduced circulating prolact... |
ORPHA:2495 |
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay |
|
Recurrent hypoglycemia, Gait ataxia, Unsteady gait |
OMIM:618158 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ketotic hypoglycemia, Failure to thrive, Lethargy |
ORPHA:26792 |
Glucocorticoid Deficiency 1 |
|
Failure to thrive, Decreased circulating cortisol level, Increased circulating ACTH level, Abnorm... |
OMIM:202200 |
Panhypophysitis |
|
Adrenocorticotropic hormone deficiency, Decreased serum testosterone concentration, Reduced circu... |
ORPHA:95513 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... |
ORPHA:79644 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Colitis, Minimal change glomerulonephritis |
OMIM:617006 |
Riboflavin Deficiency |
|
Hypoglycemia, Lethargy |
OMIM:615026 |
Sitosterolemia 1 |
|
Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Arthritis, Impaired platelet aggregatio... |
OMIM:210250 |
3-Methylglutaconic Aciduria Type 4 |
|
Hypoglycemia, Failure to thrive |
ORPHA:67048 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Hypoglycemia, Ataxia, Lethargy |
OMIM:246900 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Protein-losing enteropathy, Increased mitochondrial number |
OMIM:619063 |
Alpha-Heavy Chain Disease |
|
Malabsorption, Abnormality of the small intestine |
ORPHA:100025 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Splenomegaly, Anisocytosis, Hepatosplenomegaly, A... |
OMIM:616860 |
Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia |
OMIM:618858 |
Epidermolysis Bullosa Acquisita |
|
Inflammation of the large intestine, Abdominal pain |
ORPHA:46487 |
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Meckel diverticulum |
OMIM:300864 |
Plin1-Related Familial Partial Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Lipoatrophy, Loss of gluteal subcutaneous ... |
ORPHA:280356 |
6Q16 Microdeletion Syndrome |
|
Broad-based gait, Obesity, Polyphagia |
ORPHA:171829 |
Neonatal Hemochromatosis |
|
Hypoglycemia |
ORPHA:446 |
Schnitzler Syndrome |
|
Increased bone mineral density, Leukocytosis, Splenomegaly, Arthritis, Anemia |
ORPHA:37748 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Adrenal insufficiency, Reduced circulating prolactin concentration, Panhypopituitarism, Hypothyro... |
OMIM:262600 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Jejunoileal ulceration, Small bowel diverticula, Fat malabsorption |
OMIM:221400 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Stomatocytosis, Splenomegaly |
OMIM:153670 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Colitis, Folliculitis, Recurrent skin infections, Inflammation of the large intestine, Hepatitis,... |
OMIM:300635 |
Adenohypophysitis |
|
Adrenocorticotropic hormone deficiency, Decreased serum testosterone concentration, Reduced circu... |
ORPHA:95512 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Lethargy |
OMIM:610006 |
Atresia Of Small Intestine |
|
Intestinal malrotation, Intestinal hypoplasia, Vomiting, Jejunal atresia |
ORPHA:1201 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypoglycemia, Failure to thrive |
OMIM:617156 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Hypoglycemia, Gait disturbance, Inability to walk, Athetosis |
OMIM:618241 |
Osteosclerosis With Ichthyosis And Fractures |
|
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density |
OMIM:166740 |
Schaaf-Yang Syndrome |
|
Inability to walk, Flexion contracture, Camptodactyly, Polyphagia, Arthrogryposis multiplex conge... |
OMIM:615547 |
Endocardial Fibroelastosis |
|
Hypoglycemia, Anterior hypopituitarism |
ORPHA:2022 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Obesity, Polyphagia |
OMIM:616521 |
Glucocorticoid Deficiency 2 |
|
Decreased circulating cortisol level, Recurrent hypoglycemia, Increased circulating ACTH level |
OMIM:607398 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Clavicular ... |
OMIM:144750 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hypoglycemia, Failure to thrive, Precocious puberty, Congenital hypothyroidism |
OMIM:614736 |
Carnitine Deficiency, Systemic Primary |
|
Failure to thrive, Hypoglycemia, Impaired gluconeogenesis, Recurrent hypoglycemia, Lethargy |
OMIM:212140 |
2P21 Microdeletion Syndrome |
|
Hypoglycemia, Failure to thrive, Hypogonadism |
ORPHA:163693 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
Osteopetrosis, Autosomal Recessive 4 |
|
Recurrent fractures, Splenomegaly, Osteopetrosis, Hepatosplenomegaly, Reticulocytosis, Anemia, Th... |
OMIM:611490 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Dysphagia, Failure to thrive, Hypoglycemia |
OMIM:618958 |
Distal Osteosclerosis |
|
Diaphyseal sclerosis, Hyperostosis, Craniofacial osteosclerosis |
OMIM:126250 |
Glycerol Kinase Deficiency |
|
Adrenal insufficiency, Small for gestational age, Hypoglycemia, Adrenocortical hypoplasia, Lethargy |
OMIM:307030 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Thrombocytopenia, Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:124900 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus |
OMIM:606176 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Osteopetrosis, Fractures of the long bones, Hip os... |
OMIM:166600 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Increased mean platelet volume, Thrombocytopenia |
OMIM:300048 |
Osteopetrosis, Autosomal Recessive 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Diaphyseal sclerosis, Extramedullar... |
OMIM:259710 |
Immunodeficiency, Common Variable, 11 |
|
Crohn's disease, Inflammation of the large intestine, Mucoid diarrhea |
OMIM:615767 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Insulin resistance, Hyperinsulinemia, Lipoatrophy, Diabetes mellitus |
ORPHA:79084 |
Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Macrothrombocytopenia |
OMIM:616176 |
Osteopetrosis, Autosomal Recessive 1 |
|
Failure to thrive, Osteomyelitis, Increased bone mineral density, Craniosynostosis, Splenomegaly,... |
OMIM:259700 |
Colonic Atresia |
|
Colonic atresia |
OMIM:303650 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Hypoglycemia, Failure to thrive |
OMIM:617950 |
Proprotein Convertase 1/3 Deficiency |
|
Villous atrophy, Malabsorption, Diarrhea |
OMIM:600955 |
Orotic Aciduria |
|
Hypochromia, Failure to thrive, Folate-unresponsive megaloblastic anemia, Anisocytosis, Poikilocy... |
OMIM:258900 |
Hypercholanemia, Familial 1 |
|
Fat malabsorption, Steatorrhea |
OMIM:607748 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Cortical sclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis, Craniofacial osteosclerosis |
OMIM:122860 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Anisocytosis, Failure to thrive, Flexion contracture, Camptodactyly |
OMIM:604273 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Hepatomegaly, Hepatic failure, Fulminant hepatitis, Elevated hepatic transaminase, Type I diabete... |
OMIM:618549 |
Immunodeficiency 76 |
|
Colitis, Recurrent pneumonia, Chronic diarrhea |
OMIM:619164 |
Pseudomyxoma Peritonei |
|
Constipation, Abdominal pain, Inflammation of the large intestine, Intestinal obstruction, Nausea... |
ORPHA:26790 |
Eosinophilic Gastroenteritis |
|
Malabsorption, Steatorrhea, Diarrhea, Abnormality of the gastrointestinal tract, Vomiting, Hemato... |
ORPHA:2070 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Hypoglycemia, Ankle flexion contracture, Gait imbalance, Lethargy |
OMIM:618120 |
Lipodystrophy, Familial Partial, Type 3 |
|
Reduced subcutaneous adipose tissue, Type II diabetes mellitus, Hyperinsulinemia, Loss of gluteal... |
OMIM:604367 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Diabetes mellitus, Impaired glucose tolerance |
OMIM:610947 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hypoglycemia, Failure to thrive |
OMIM:619048 |
Osteogenesis Imperfecta, Type Xiii |
|
Decreased body weight, Increased bone mineral density, Osteoporosis, Umbilical hernia, Joint hype... |
OMIM:614856 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Abdominal obesity, Failure to thrive, Precocious puberty, Type II diabetes mellitus, Small pituit... |
ORPHA:398079 |
Dicarboxylic Aminoaciduria |
|
Fasting hypoglycemia |
OMIM:222730 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Ataxia, Dysmetria, Hypogonadotropic hypogonadism, Camptodactyly of finger, Hypoglycemia |
ORPHA:48431 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Anisocytosis, Poikilocytosis, Anemia, Abnormal erythrocyte mor... |
ORPHA:98870 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Splenomegaly, Heinz bodies, Anisocytosis, Poikilocytosis, Fava bean-induced hemolyt... |
OMIM:300908 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Hyperglycemia |
OMIM:618856 |
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma |
|
Death in childhood, Diarrhea, Neonatal death, Death in infancy, Jejunal atresia, Microcolon, Volv... |
OMIM:609313 |
Majeed Syndrome |
|
Failure to thrive, Osteomyelitis, Increased bone mineral density, Leukocytosis, Congenital hypopl... |
ORPHA:77297 |
Blue Diaper Syndrome |
|
Decreased circulating T4 concentration, Increased body weight, Elevated circulating thyroid-stimu... |
ORPHA:94086 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Congenital pyloric atresia, Neonatal death |
OMIM:612138 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Hypoglycemia, Failure to thrive, Ataxia, Lethargy |
ORPHA:2394 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Failure to thrive, Precocious puberty, Decreased circulating T4 concentration, Central adrenal in... |
ORPHA:98754 |
Shashi-Pena Syndrome |
|
Hypoglycemia |
OMIM:617190 |
Congenital Tufting Enteropathy |
|
Anal atresia, Malabsorption, Elevated fecal osmolality, Abnormal large intestinal mucosa morpholo... |
ORPHA:92050 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Glycosuria, Neonatal h... |
ORPHA:263455 |
Immunodeficiency 70 |
|
Colitis, Recurrent sinusitis, Furuncle, Achalasia, Celiac disease |
OMIM:618969 |
Pancreatic Colipase Deficiency |
|
Cholelithiasis, Exocrine pancreatic insufficiency, Steatorrhea, Fat malabsorption, Chronic diarrhea |
ORPHA:309108 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Failure to thrive, Precocious puberty, Decreased circulating T4 concentration, Central adrenal in... |
ORPHA:98793 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Dysphagia, Hypoglycemia |
OMIM:618253 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Protein-losing enteropathy |
OMIM:613502 |
Combined Malonic And Methylmalonic Acidemia |
|
Hypoglycemia, Failure to thrive |
ORPHA:289504 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Ileal ulcer, Colitis, Skin rash, Anterior uveitis |
OMIM:616744 |
Immunodeficiency 14B, Autosomal Recessive |
|
Colitis, Inflammation of the large intestine, Recurrent sinusitis, Recurrent pneumonia, Chronic d... |
OMIM:619281 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Failure to thrive, Precocious puberty, Decreased circulating T4 concentration, Central adrenal in... |
ORPHA:177904 |
Cog2-Cdg |
|
Small pituitary gland |
ORPHA:435934 |
Pituitary Stalk Interruption Syndrome |
|
Failure to thrive, Abnormality of the hypothalamus-pituitary axis, Hypoglycemia, Adrenal hypoplas... |
ORPHA:95496 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Failure to thrive, Precocious puberty, Decreased circulating T4 concentration, Central adrenal in... |
ORPHA:177901 |
Pick Disease Of Brain |
|
Polyphagia |
OMIM:172700 |
Lipodystrophy, Familial Partial, Type 1 |
|
Increased adipose tissue around the neck, Loss of gluteal subcutaneous adipose tissue, Increased ... |
OMIM:608600 |
Culler-Jones Syndrome |
|
Cleft palate, Hypopituitarism, Ectopic posterior pituitary, Hypogonadism, Cryptorchidism, Anterio... |
OMIM:615849 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Failure to thrive, Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume |
OMIM:617718 |
Osteosclerotic Metaphyseal Dysplasia |
|
Clavicular sclerosis |
OMIM:615198 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Cystic acne, Colitis, Arthritis, Acne, Sterile arthritis |
OMIM:604416 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Duodenitis, Villous atrophy, Bloody diarrhea |
OMIM:614328 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Hypoglycemia, Small for gestational age |
OMIM:615160 |
Linear Iga Dermatosis |
|
Inflammation of the large intestine |
ORPHA:46488 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... |
OMIM:613038 |
Trigonocephaly 1 |
|
Meckel diverticulum |
OMIM:190440 |
Septooptic Dysplasia |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Diabetes in... |
OMIM:182230 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Diarrhea, Protein-losing enteropathy, Hematochezia |
ORPHA:103910 |
Hypothyroidism, Central, With Testicular Enlargement |
|
Hypothyroidism, Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Inapprop... |
OMIM:300888 |
Propionic Acidemia |
|
Hypoglycemia |
ORPHA:35 |
Pyridoxal Phosphate-Responsive Seizures |
|
Hypoglycemia, Failure to thrive, Unsteady gait |
ORPHA:79096 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hypoglycemia, Failure to thrive, Delayed puberty |
ORPHA:369 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Ketotic hypoglycemia |
ORPHA:79159 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Hypoglycemia, Failure to thrive, Ataxia, Hyperglycemia |
OMIM:220111 |
Buschke-Ollendorff Syndrome |
|
Joint stiffness, Recurrent fractures, Flexion contracture, Craniosynostosis, Arthritis, Abnormal ... |
ORPHA:1306 |
Galactokinase Deficiency |
|
Failure to thrive, Hyperinsulinemia, Small for gestational age, Hypergonadotropic hypogonadism, H... |
ORPHA:79237 |
Orthostatic Hypotension 2 |
|
Hypoglycemia |
OMIM:618182 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Inappropriately normal thyroid-stimulating hormone level, Central hypothyroidism |
OMIM:301033 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Steatorrhea, Death in childhood, Diarrhea, Vomiting, Villous atrophy, Protein-losing enteropathy |
OMIM:602579 |
Rh Deficiency Syndrome |
|
Hypochromia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Macrocytic anemia, Hemolytic anemia... |
ORPHA:71275 |
Prader-Willi-Like Syndrome |
|
Failure to thrive, Abnormality of the endocrine system, Precocious puberty, Decreased circulating... |
ORPHA:398073 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Hypoglycemia, Recurrent hypoglycemia, Weight loss, Hypoinsulinemia |
ORPHA:2126 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Osteopetrosis, Hepatosplenomegaly, Abno... |
OMIM:612840 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Hypoglycemia, Failure to thrive, Inability to walk |
OMIM:614739 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Hypoglycemia |
OMIM:614741 |
Microvillus Inclusion Disease |
|
Villous atrophy, Diarrhea, Abnormality of small intestinal villus morphology |
ORPHA:2290 |
Visceral Neuropathy, Familial, 1, Autosomal Recessive |
|
Intestinal malrotation, Vomiting, Colonic diverticula, Intestinal pseudo-obstruction, Functional ... |
OMIM:243180 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Decreased mean corpuscular volume, Anisocytosis, Poikilocytosis, Elliptocytosis, Anemia |
OMIM:616959 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypoglycemia, Lethargy, Adrenal insufficiency |
OMIM:619386 |
Hsd10 Mitochondrial Disease |
|
Hypoglycemia, Choreoathetosis |
OMIM:300438 |
Frontotemporal Dementia |
|
Polyphagia |
OMIM:600274 |
Axial Osteomalacia |
|
Osteomalacia, Increased bone mineral density |
OMIM:109130 |
Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Oste... |
ORPHA:53 |
Immunodeficiency 57 With Autoinflammation |
|
Gastritis, Skin rash, Diarrhea, Inflammation of the large intestine, Perianal abscess, Bronchiect... |
OMIM:618108 |
Estrogen Resistance |
|
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance |
OMIM:615363 |
Man1B1-Cdg |
|
Broad-based gait, Polyphagia, Truncal obesity |
ORPHA:397941 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Hyperinsulinemic hypoglycemia, Delayed puberty, Delayed thelarche, Dorsocervical fat pad, Diabete... |
OMIM:616033 |
X-Linked Sideroblastic Anemia |
|
Glucose intolerance, Elevated hepatic transaminase |
ORPHA:75563 |
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
|
Chronic gastritis, Colitis, Eczema, Diarrhea, Inflammation of the large intestine, Arthritis, Dys... |
OMIM:608809 |
Glucocorticoid Resistance, Generalized |
|
Hypoglycemia |
OMIM:615962 |
Pancreas, Annular |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
Annular Pancreas |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia |
ORPHA:664 |
Sheehan Syndrome |
|
Adrenocorticotropic hormone deficiency, Central adrenal insufficiency, Reduced circulating prolac... |
ORPHA:91355 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Abdominal obesity, Failure to thrive, Type II diabetes mellitus, Precocious puberty, Flexion cont... |
ORPHA:398069 |
Dominant Beta-Thalassemia |
|
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... |
ORPHA:231226 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Dec... |
OMIM:608594 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypoglycemia, Adrenogenital syndrome, Adrenal hyperplasia |
OMIM:201910 |
Immunodeficiency 60 And Autoimmunity |
|
Crohn's disease, Colitis, Chronic diarrhea, Ulcerative colitis, Bronchiectasis |
OMIM:618394 |
Diabetes And Deafness, Maternally Inherited |
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Type II diabetes mellitus, Hyperglycemia |
OMIM:520000 |
Beemer-Ertbruggen Syndrome |
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Thrombocytopenia, Increased bone mineral density |
ORPHA:1237 |
Diabetes Mellitus, Permanent Neonatal, 3 |
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Small for gestational age, Glycosuria, Athetosis, Type I diabetes mellitus, Hyperglycemia |
OMIM:618857 |
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
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Hypoglycemia, Small for gestational age |
ORPHA:231137 |
Pediatric-Onset Graves Disease |
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Failure to thrive, Polydipsia, Graves disease, Increased circulating free T3, Increased circulati... |
ORPHA:525731 |
Thoraco-Abdominal Enteric Duplication |
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Intestinal malrotation, Meningocele, Duodenal stenosis |
ORPHA:1759 |
Post-Traumatic Pituitary Deficiency |
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Abnormal prolactin level, Decreased response to growth hormone stimulation test, Hypogonadotropic... |
ORPHA:95619 |
Osteopetrosis, Autosomal Recessive 6 |
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Osteopetrosis |
OMIM:611497 |
Camurati-Engelmann Disease |
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Slender build, Reduced subcutaneous adipose tissue, Sclerosis of skull base, Cortical thickening ... |
OMIM:131300 |
Pancreatic And Cerebellar Agenesis |
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Reduced subcutaneous adipose tissue, Failure to thrive, Hypoglycemia, Diabetes mellitus, Hypergly... |
OMIM:609069 |
Infantile Liver Failure Syndrome 2 |
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Hypoglycemia, Lethargy |
OMIM:616483 |
Laron Syndrome |
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Hypoglycemia, Abnormality of the endocrine system, Truncal obesity, Delayed puberty |
ORPHA:633 |
Cog8-Cdg |
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Hypoglycemia, Failure to thrive, Ataxia |
ORPHA:95428 |
Thrombocytopenia 3 |
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Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
Monocarboxylate Transporter 1 Deficiency |
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Ketotic hypoglycemia |
OMIM:616095 |
Disorder Of Bile Acid Synthesis |
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Fat malabsorption |
ORPHA:79168 |
Storage Pool Platelet Disease |
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Acute leukemia, Decreased mean platelet volume |
OMIM:185050 |
Cebalid Syndrome |
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Polyphagia, Congenital diaphragmatic hernia |
OMIM:618774 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
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Hypoglycemia, Failure to thrive, Lethargy |
OMIM:210200 |
Lathosterolosis |
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Hepatosplenomegaly, Anisopoikilocytosis, Osteoporosis, Acanthocytosis, Schistocytosis, Increased ... |
OMIM:607330 |
Trichohepatoenteric Syndrome 2 |
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Bloody diarrhea, Colitis, Diarrhea, Villous atrophy, Chronic diarrhea |
OMIM:614602 |
Chondrodysplasia, Blomstrand Type |
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Advanced tarsal ossification, Advanced ossification of carpal bones, Generalized osteosclerosis |
OMIM:215045 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
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Ataxia, Cachexia, Hypoglycemia, Distal arthrogryposis, Lethargy |
ORPHA:42 |
Takenouchi-Kosaki Syndrome |
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Increased mean platelet volume, Thrombocytopenia, Inguinal hernia, Camptodactyly |
OMIM:616737 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
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Hypoglycemia, Failure to thrive, Ataxia |
OMIM:256810 |
Insulin-Resistance Syndrome Type B |
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Postprandial hyperglycemia, Glucose intolerance, Increased serum testosterone level, Type II diab... |
ORPHA:2298 |
Bleeding Disorder, Platelet-Type, 17 |
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Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... |
OMIM:187900 |
Congenital Disorder Of Glycosylation, Type Ih |
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Diarrhea, Neonatal death, Vomiting, Patent ductus arteriosus, Protein-losing enteropathy, Death i... |
OMIM:608104 |
Esophagitis, Eosinophilic, 2 |
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Dysphagia, Vomiting, Esophagitis |
OMIM:613412 |
Esophagitis, Eosinophilic, 1 |
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Dysphagia, Vomiting, Esophagitis |
OMIM:610247 |
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
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Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Decreased response to ... |
ORPHA:67045 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
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Hypoglycemia |
ORPHA:364 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
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Broad-based gait, Decreased body weight, Small for gestational age, Hypoglycemia, Hypothyroidism,... |
ORPHA:391408 |
Solitary Rectal Ulcer Syndrome |
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Bloody mucoid diarrhea, Bloody diarrhea, Stercoral ulcer, Hematochezia, Intermittent diarrhea, Re... |
ORPHA:209964 |
Gaucher Disease Type 1 |
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Increased bone mineral density, Splenomegaly, Osteopenia, Leukopenia, Osteoarthritis, Pathologic ... |
ORPHA:77259 |
Lipodystrophy, Congenital Generalized, Type 2 |
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Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Typ... |
OMIM:269700 |
Autoinflammation With Infantile Enterocolitis |
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Villous atrophy, Episodic vomiting, Secretory diarrhea, Enterocolitis |
OMIM:616050 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
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Hypoglycemia, Hypoketotic hypoglycemia, Failure to thrive |
ORPHA:5 |
Ane Syndrome |
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Decreased serum testosterone concentration, Decreased response to growth hormone stimulation test... |
ORPHA:157954 |
Bernard-Soulier Syndrome |
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Decreased platelet glycoprotein Ib-IX-V, Impaired ristocetin-induced platelet aggregation, Macrot... |
ORPHA:274 |
Thyroid Hormone Resistance, Selective Pituitary |
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Elevated circulating thyroid-stimulating hormone concentration, Hyperthyroidism, Impaired sensiti... |
OMIM:145650 |
2Q23.1 Microdeletion Syndrome |
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Polyphagia, Ataxia |
ORPHA:228402 |
Fg Syndrome Type 1 |
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High palate, Anal atresia, Malrotation of colon, Gastroesophageal reflux, Small pituitary gland, ... |
ORPHA:93932 |
Retinitis Pigmentosa |
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Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism, Atypical scarring of skin, Obesity |
ORPHA:791 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
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Hydrocele testis, Protein-losing enteropathy |
OMIM:618154 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
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Diarrhea, Death in childhood, Hepatocellular carcinoma, Fat malabsorption |
OMIM:601847 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
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Cryptorchidism, Intestinal malrotation, Abnormality of the gastrointestinal tract, Hypoperistalsi... |
ORPHA:2241 |
Prader-Willi Syndrome |
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Abdominal obesity, Failure to thrive, Precocious puberty, Central adrenal insufficiency, Small pi... |
ORPHA:739 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
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Neonatal hypoglycemia, Failure to thrive, Ataxia |
OMIM:619046 |
Visceral Myopathy 1 |
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Constipation, Diarrhea, Vomiting, Dysphagia, Megaduodenum, Intestinal pseudo-obstruction, Microco... |
OMIM:155310 |
Acth Deficiency, Isolated |
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Fasting hypoglycemia, Adrenal hypoplasia, Adrenocorticotropic hormone deficiency, Decreased circu... |
OMIM:201400 |
Stuve-Wiedemann Syndrome 2 |
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Dysphagia, Stillbirth, Neonatal death, Death in adolescence |
OMIM:619751 |
Alg1-Cdg |
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Abnormality of the gastrointestinal tract, Protein-losing enteropathy, Chronic diarrhea |
ORPHA:79327 |
Fanconi Anemia, Complementation Group O |
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Anal atresia, Miscarriage, Neonatal death, Death in infancy, Cryptorchidism, Rectal atresia |
OMIM:613390 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
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Malabsorption, Xerostomia, Diarrhea, Vomiting, Hematochezia, Glossitis, Protein-losing enteropath... |
OMIM:175500 |
Septo-Optic Dysplasia Spectrum |
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Cleft palate, Tracheoesophageal fistula, Abnormality of the hypothalamus-pituitary axis, Maternal... |
ORPHA:3157 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
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Failure to thrive, Small for gestational age, Truncal obesity, Hypoglycemia, Hypogonadism, Insuli... |
ORPHA:73272 |
Glycogen Storage Disease Iii |
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Hypoglycemia |
OMIM:232400 |
Gastric Volvulus, Intrathoracic |
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Hiatus hernia, Volvulus |
OMIM:137210 |
Donohue Syndrome |
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Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Severe failure to thrive, Pancr... |
OMIM:246200 |
Ganglioneuroma |
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Multiple intestinal neurofibromatosis, Abnormal rectum morphology, Colorectal polyposis, Gastroin... |
ORPHA:251992 |
Fanconi-Bickel Syndrome |
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Postprandial hyperglycemia, Hepatomegaly, Elevated circulating alkaline phosphatase concentration... |
ORPHA:2088 |
Thrombocytopenia 1 |
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Joint hemorrhage, Intermittent thrombocytopenia, Congenital thrombocytopenia, Decreased mean plat... |
OMIM:313900 |
Hemochromatosis, Type 4 |
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Glucose intolerance, Hepatomegaly, Cirrhosis, Impaired glucose tolerance, Diabetes mellitus, Hepa... |
OMIM:606069 |
Maple Syrup Urine Disease |
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Hypoglycemia, Ataxia, Lethargy |
OMIM:248600 |
Mpi-Cdg |
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Gastrointestinal hemorrhage, Diarrhea, Protein-losing enteropathy, Vomiting |
ORPHA:79319 |
Classic Galactosemia |
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Gait imbalance, Ataxia, Hypoglycemia, Gait disturbance, Delayed puberty, Decreased serum insulin-... |
ORPHA:79239 |
Lethal Recessive Chondrodysplasia |
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Generalized osteosclerosis |
ORPHA:1423 |
Bdv Syndrome |
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Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... |
OMIM:619326 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
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Eosinophilic microabscess formation in the esophagus, Gastroesophageal reflux, Feeding difficulti... |
ORPHA:411696 |
Pyruvate Carboxylase Deficiency |
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Hypoglycemia |
OMIM:266150 |
Hypertriglyceridemia 1 |
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Glucose intolerance |
OMIM:145750 |
Hyperlipoproteinemia, Type Iv |
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Glucose intolerance |
OMIM:144600 |
Hernia, Anterior Diaphragmatic |
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Neonatal death |
OMIM:306950 |
Mungan Syndrome |
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Barrett esophagus, Hypoperistalsis, Megaduodenum, Intestinal pseudo-obstruction, Gastroparesis |
OMIM:611376 |
Carnitine Palmitoyl Transferase 1A Deficiency |
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Hypoglycemia, Lethargy |
ORPHA:156 |
Non-Acquired Panhypopituitarism |
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Ectopic anterior pituitary gland, Abnormal prolactin level, Decreased response to growth hormone ... |
ORPHA:90695 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
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Congenital pyloric atresia, Neonatal death, Esophageal stenosis |
OMIM:619817 |
Netherton Syndrome |
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Villous atrophy, Intestinal atresia, Abnormal intestine morphology |
OMIM:256500 |
Hypoadrenocorticism, Familial |
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Hypoglycemia, Adrenal hypoplasia, Adrenal insufficiency |
OMIM:240200 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
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Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Ata... |
ORPHA:363400 |
Diverticulosis Of Bowel, Hernia, And Retinal Detachment |
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Small bowel diverticula, Colonic diverticula |
OMIM:223330 |
Martinez-Frias Syndrome |
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Annular pancreas, Duodenal atresia, Intestinal malrotation, Tracheoesophageal fistula, Pancreatic... |
OMIM:601346 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
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Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Keloids, Obesity |
ORPHA:3085 |
Glutaric Acidemia I |
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Hypoglycemia, Failure to thrive, Choreoathetosis |
OMIM:231670 |
Paget Disease Of Bone 3 |
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Patchy osteosclerosis, Osteolysis, Fractures of the long bones |
OMIM:167250 |
Nk-Cell Enteropathy |
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Abnormal gastric mucosa morphology, Gastroesophageal reflux, Constipation, Intestinal polyp, Diar... |
ORPHA:263665 |
Congenital Disorder Of Glycosylation, Type Id |
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High palate, Diarrhea, Vomiting, Bifid uvula, Villous atrophy |
OMIM:601110 |
Congenital Isolated Acth Deficiency |
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Decreased circulating cortisol level, Adrenal hypoplasia, Hypoglycemic seizures, Adrenocorticotro... |
ORPHA:199296 |
Osteopetrosis And Infantile Neuroaxonal Dystrophy |
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Osteopetrosis |
OMIM:600329 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
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Hypoglycemia, Lethargy |
OMIM:615751 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
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Interstitial pneumonitis, Enterocolitis, Ulcerative colitis |
OMIM:614878 |
Hyperthyroidism, Familial Gestational |
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Decreased thyroid-stimulating hormone level, Hyperthyroidism |
OMIM:603373 |
Septopreoptic Holoprosencephaly |
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Precocious puberty, Anterior hypopituitarism, Anteriorly placed anus, Dysphagia, Central diabetes... |
ORPHA:280195 |
Glycogen Storage Disease Ixa1 |
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Hypoglycemia |
OMIM:306000 |
Prader-Willi Syndrome |
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Adrenal insufficiency, Abdominal obesity, Hyperinsulinemia, Type II diabetes mellitus, Precocious... |
OMIM:176270 |
Hemochromatosis, Neonatal |
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Hypoglycemia |
OMIM:231100 |
Pyridoxine-Dependent Epilepsy |
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Hypoglycemia |
ORPHA:3006 |
Osteopetrosis, Autosomal Recessive 3 |
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Diaphyseal sclerosis, Extramedullary hematopoiesis, Osteopetrosis, Hepatosplenomegaly, Anemia, Cr... |
OMIM:259730 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
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Hypoketotic hypoglycemia, Lethargy |
OMIM:600649 |
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