Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated circulating creatine kinase concentration |
ORPHA:206599 |
Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration |
ORPHA:2843 |
Autoimmune Disease |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:109100 |
Diabetes Mellitus, Ketosis-Prone |
|
Insulin resistance, Autoimmunity, Diabetes mellitus, Beta-cell dysfunction |
OMIM:612227 |
Pemphigus Vulgaris, Familial |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:169610 |
Complement Component 4, Partial Deficiency Of |
|
Systemic lupus erythematosus |
OMIM:120790 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... |
OMIM:610021 |
Lupus Erythematosus Tumidus |
|
Anti-dsDNA antibody positivity, Anti-La/SS-B antibody positivity, Antinuclear antibody positivity... |
ORPHA:90283 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia |
OMIM:601820 |
Insulin Autoimmune Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Systemic lupus erythematosus, Autoimmuni... |
ORPHA:411593 |
Tn Polyagglutination Syndrome |
|
Autoimmunity |
OMIM:300622 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Asymptomatic hyperammonemia, Hy... |
OMIM:606762 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia |
OMIM:256450 |
Lipodystrophy, Familial Partial, Type 1 |
|
Increased subcutaneous truncal adipose tissue, Increased adipose tissue around the neck, Increase... |
OMIM:608600 |
Systemic Lupus Erythematosus 16 |
|
Anti-dsDNA antibody positivity, Perinuclear antineutrophil antibody positivity, Antinuclear antib... |
OMIM:614420 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Complement Component C1S Deficiency |
|
Hashimoto thyroiditis, Hepatitis, Systemic lupus erythematosus |
OMIM:613783 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis |
OMIM:613370 |
Hashimoto Thyroiditis |
|
Hashimoto thyroiditis, Autoimmune antibody positivity |
OMIM:140300 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Hyperglycemia, Anti-glutamic acid decarboxylase antibody po... |
OMIM:610582 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Maturity-onset diabetes of the young, Hyperglycemia, Maternal diabetes, Anti-glutamic acid decarb... |
OMIM:616329 |
C1Q Deficiency 1 |
|
Autoimmunity, Systemic lupus erythematosus |
OMIM:613652 |
Lipodystrophy, Familial Partial, Type 3 |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... |
OMIM:604367 |
Hjv Or Hamp-Related Hemochromatosis |
|
Increased circulating ferritin concentration, Hypogonadism, Congenital hepatic fibrosis, Abnormal... |
ORPHA:79230 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Autoimmunity, Diabetes mellitus |
OMIM:222100 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... |
ORPHA:79644 |
Alopecia Areata 1 |
|
Autoimmunity |
OMIM:104000 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hyperinsul... |
ORPHA:276575 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Hypoglycemic seizures, Recurrent hypoglycemia, Hypoketotic ... |
ORPHA:276556 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hepatitis, Systemic lupus erythematosus, Autoimmunity, Splenomegaly, Autoimmune hemolytic anemia,... |
ORPHA:444463 |
Mahvash Disease |
|
Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis, Type II diabetes mellitus, Increased g... |
OMIM:619290 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hyperinsul... |
ORPHA:276580 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... |
ORPHA:276608 |
Transient Neonatal Diabetes Mellitus |
|
Maturity-onset diabetes of the young, Umbilical hernia, Hyperglycemia, Transient neonatal diabete... |
ORPHA:99886 |
Lipase Deficiency, Combined |
|
Type II diabetes mellitus, Lipodystrophy, Pancreatitis, Hypertriglyceridemia |
OMIM:246650 |
Mucous Membrane Pemphigoid |
|
Autoimmunity |
ORPHA:46486 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Exocrine pancreatic insufficiency, Elevated hemoglobin A1c, Maturity-onset diabetes of the young,... |
OMIM:609812 |
Lipodystrophy, Familial Partial, Type 2 |
|
Increased adipose tissue around the neck, Increased facial adipose tissue, Insulin-resistant diab... |
OMIM:151660 |
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies |
|
Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism |
OMIM:307500 |
Complement Component C1R/C1S Deficiency |
|
Autoimmunity |
OMIM:216950 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
Insulinoma |
|
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... |
ORPHA:97279 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Flexion contracture, Reduced C-peptide level, Hyperglycemia |
OMIM:618856 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... |
OMIM:618858 |
Eosinophilopenia |
|
Autoimmunity |
OMIM:131430 |
Mody |
|
Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Pancreatic hypoplasi... |
ORPHA:552 |
Complement Component 2 Deficiency |
|
Systemic lupus erythematosus |
OMIM:217000 |
Immunoglobulin A Deficiency 2 |
|
Autoimmunity |
OMIM:609529 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... |
OMIM:606176 |
Immunoglobulin A Deficiency 1 |
|
Autoimmunity |
OMIM:137100 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Glycosuria, Hyperinsulinemia, Hypophosphatemic rickets, Hypoketotic hypoglycemia, Pancreatic isle... |
ORPHA:263455 |
Acquired Partial Lipodystrophy |
|
Insulin resistance, Autoimmunity, Hepatic steatosis |
ORPHA:79087 |
Donohue Syndrome |
|
Postprandial hyperglycemia, Hepatic fibrosis, Precocious puberty, Cholestasis, Hyperglycemia, Hyp... |
OMIM:246200 |
Bullous Pemphigoid |
|
Autoimmunity, Diabetes mellitus, Anti-BP230 antibody positivity, Anti-BP180 antibody positivity |
ORPHA:703 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperglycemia, Hyp... |
OMIM:262190 |
Febrile Infection-Related Epilepsy Syndrome |
|
Autoimmunity |
ORPHA:163703 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
Insulin-Resistance Syndrome Type B |
|
Insulin-resistant diabetes mellitus, Systemic lupus erythematosus, Hyperglycemia, Hyperinsulinemi... |
ORPHA:2298 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmunity, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Autoimmune hemo... |
ORPHA:231154 |
Secondary Non-Traumatic Avascular Necrosis |
|
Rheumatoid arthritis, Autoimmunity, Systemic lupus erythematosus |
ORPHA:399180 |
Alopecia Totalis |
|
Type I diabetes mellitus, Autoimmunity |
ORPHA:700 |
Linear Iga Dermatosis |
|
Autoimmunity |
ORPHA:46488 |
Pemphigus Erythematosus |
|
Antinuclear antibody positivity, Autoimmunity, Anti-acetylcholine receptor antibody positivity, S... |
ORPHA:79480 |
Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperglycemia, Hyperlipidemia, Mildly elevated creatine kinase |
OMIM:604484 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Generalized lipodystrophy, Hyperglycemia, Decreased adipose ... |
OMIM:608612 |
Mitchell-Riley Syndrome |
|
Annular pancreas, Pancreatic hypoplasia, Cholestasis, Hyperglycemia, Hyperbilirubinemia, Absent g... |
OMIM:615710 |
Igg4-Related Thyroid Disease |
|
Anti-thyroglobulin antibody positivity, Euthyroid goiter, Goiter, Sialadenitis, Autoimmunity, Scl... |
ORPHA:64744 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Antineutrophil antibody positivity, Type I diabetes mellitus, Hepatitis, Hepatosplenomegaly, Hype... |
ORPHA:228426 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Increased adipose tissue around the neck, Increased facial adipose tissue, Elbow flexion contract... |
OMIM:248370 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... |
ORPHA:91354 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Type I diabetes mellitus, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Autoimmunity, Au... |
OMIM:615952 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Abnormality of exocrine pancreas physiology, Hepatic steatosis, Hyperuricemia, Aplasia/Hypoplasia... |
ORPHA:93111 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Hyperglycemia, Type I diabetes mellitus, Glycosuria |
OMIM:618857 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Hypokalemia, Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circul... |
OMIM:241150 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmunity, Splenomegaly, Autoimmune hemolytic anemia |
OMIM:618495 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620126 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria |
ORPHA:2089 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Increased circulating ferritin concentration, Decreased serum testosterone concentration, Hypergl... |
ORPHA:465508 |
Sjogren Syndrome |
|
Rheumatoid arthritis, Autoimmunity |
OMIM:270150 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620125 |
Subcorneal Pustular Dermatosis |
|
Rheumatoid arthritis, Autoimmunity, Systemic lupus erythematosus |
ORPHA:48377 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Systemic lupus erythematosus, Autoimmunity, Splenomegaly, Autoimmune hemolytic anemia, Jaundice |
ORPHA:90033 |
Short Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Abse... |
OMIM:269880 |
Hypokalemic Periodic Paralysis |
|
Episodic hypokalemia, Adrenocortical adenoma, Mildly elevated creatine kinase, Postprandial hyper... |
ORPHA:681 |
Diffuse Alveolar Hemorrhage |
|
Antineutrophil antibody positivity, Autoimmunity, Antiphospholipid antibody positivity, Antinucle... |
ORPHA:90060 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hyperglycemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hypercholester... |
OMIM:615812 |
Immunodeficiency 7 |
|
Hepatomegaly, Autoimmunity, Splenomegaly, Autoimmune hemolytic anemia |
OMIM:615387 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased circulating cortisol level, Increased urinary cortisol level, Hyperglycemia, Macronodul... |
OMIM:615954 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmunity, Autoimmune hemolytic anemia, Systemic lupus erythematosus |
ORPHA:90036 |
Pancreatic And Cerebellar Agenesis |
|
Pancreatic hypoplasia, Hypoglycemia, Hyperglycemia, Reduced subcutaneous adipose tissue, Anemia, ... |
OMIM:609069 |
Fanconi-Bickel Syndrome |
|
Postprandial hyperglycemia, Glycosuria, Abnormal hepatic glycogen storage, Increased hepatic glyc... |
ORPHA:2088 |
Greig Cephalopolysyndactyly Syndrome |
|
Joint contracture of the hand, Umbilical hernia, Hyperglycemia, Inguinal hernia, Camptodactyly of... |
OMIM:175700 |
Alopecia Universalis |
|
Type I diabetes mellitus, Autoimmunity |
ORPHA:701 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypopituitarism, Hyperglycemia, Leukocytosis, Hypothyroidism, Hypercholesterolemia |
ORPHA:90065 |
Fanconi-Bickel Syndrome |
|
Hypouricemia, Intrahepatic cholestasis, Postprandial hyperglycemia, Glycosuria, Hyperbilirubinemi... |
OMIM:227810 |
Bronchiolitis Obliterans |
|
Autoimmunity |
ORPHA:1303 |
Cold Agglutinin Disease |
|
Hepatomegaly, Autoimmunity, Splenomegaly |
ORPHA:56425 |
Beta-Ketothiolase Deficiency |
|
Hypoglycemia, Hyperglycemia, Leukocytosis, Hyperammonemia, Hyperuricemia, Thrombocytosis, Hepatom... |
ORPHA:134 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Hyperglycemia, Hypergonadotropic hypogonadism |
OMIM:619737 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Autoimmunity, Juvenile rheumatoid arthritis, Splenomegaly |
ORPHA:85414 |
Isolated Sedoheptulokinase Deficiency |
|
Cholestatic liver disease, Postprandial hyperglycemia, Hepatitis, Cholestasis, Portal hypertensio... |
ORPHA:440713 |
Necrotizing Enterocolitis |
|
Hyperglycemia, Leukocytosis, Abnormal glucose homeostasis, Hyponatremia, Peritonitis, Thrombocyto... |
ORPHA:391673 |
Gamma-Heavy Chain Disease |
|
Rheumatoid arthritis, Autoimmunity, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegaly, Auto... |
ORPHA:100026 |
Acquired Generalized Lipodystrophy |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Autoimmunity, Hepatic ... |
ORPHA:79086 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus, Pancreatic hypoplasia, Glycosuria, Hyperglycemia, L... |
ORPHA:99885 |
Pemphigus Vulgaris |
|
Autoimmunity, Anti-desmoglein-3 antibody positivity, Anti-desmoglein-1 antibody positivity |
ORPHA:704 |
Tyrosinemia, Type I |
|
Hypermethioninemia, Hypoglycemia, Hypophosphatemic rickets, Splenomegaly, Pancreatic islet-cell h... |
OMIM:276700 |
Pyruvate Carboxylase Deficiency |
|
Neonatal hyperbilirubinemia, Hypoglycemia, Hyperglycemia, Hyperammonemia, Hyperglutamatemia, Hype... |
ORPHA:3008 |
Autoimmune Polyendocrinopathy Type 3 |
|
Aplasia/Hypoplasia of the spleen, Biliary cirrhosis, Rheumatoid arthritis, Hepatitis, Anterior pi... |
ORPHA:227982 |
Autoimmune Polyendocrinopathy Type 4 |
|
Aplasia/Hypoplasia of the spleen, Rheumatoid arthritis, Biliary cirrhosis, Hepatitis, Anterior pi... |
ORPHA:227990 |
Rabson-Mendenhall Syndrome |
|
Postprandial hyperglycemia, Insulin resistance, Precocious puberty, Insulin-resistant diabetes me... |
ORPHA:769 |
Alstrom Syndrome |
|
Insulin-resistant diabetes mellitus, Chronic active hepatitis, Decreased response to growth hormo... |
OMIM:203800 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Hepatomegaly, Type I diabetes mellitus, Reduced pancreatic beta cells, Insulin-resistant diabetes... |
OMIM:226980 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Hyperglycemia, Hyperammonemia, Hypoglycemia |
OMIM:615453 |
Cole Disease |
|
Abnormal blood phosphate concentration, Hyperglycemia |
OMIM:615522 |
Bardet-Biedl Syndrome 9 |
|
Hyperglycemia |
OMIM:615986 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Postprandial hyperglycemia, Graves disease, Hypomagnesemia, Hyperthyroidism... |
ORPHA:79102 |
Perlman Syndrome |
|
Hypoglycemia, Congenital diaphragmatic hernia, Pancreatic islet-cell hyperplasia |
OMIM:267000 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Peritoneal abscess, Type I diabetes mellitus, Hepatitis, Autoimmunity, Autoimmune hemolytic anemi... |
ORPHA:436252 |
Dend Syndrome |
|
Elevated hemoglobin A1c, Hyperglycemia |
ORPHA:79134 |
Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Hypoglycemia, Hyperglycemia, Hyperglycinemia, Thrombocytopenia, Hypernatremia |
OMIM:620423 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Pancreatic hypoplasia, Glycosuria, Umbilical hernia, Hyperglycemia, Absent gallbladder, Congenita... |
OMIM:600001 |
Simpson-Golabi-Behmel Syndrome |
|
Polysplenia, Camptodactyly of finger, Umbilical hernia, Hypoglycemia, Splenomegaly, Pancreatic is... |
ORPHA:373 |
Leprechaunism |
|
Postprandial hyperglycemia, Insulin resistance, Central hypothyroidism, Hyperaldosteronism, Hyper... |
ORPHA:508 |
Igg4-Related Submandibular Gland Disease |
|
Enlarged lacrimal glands, Abnormal pancreas morphology, Abnormality of the submandibular glands, ... |
ORPHA:449432 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Premature adrenarche, Central hypothyroidism, Increased circulating prolactin concentration, Decr... |
ORPHA:293987 |
Atypical Werner Syndrome |
|
Chondrocalcinosis, Glycosuria, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Abn... |
ORPHA:79474 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Periportal fibrosis, Hypoglycemia, Recurrent hypoglycemia, Cholestasis, Hyperglycemia, Hepatic st... |
OMIM:124000 |
Greenberg Dysplasia |
|
Hepatomegaly, Hepatosplenomegaly, Pancreatic islet-cell hyperplasia, Hepatic calcification |
OMIM:215140 |
Scorpion Envenomation |
|
Glycosuria, Hyperglycemia, Hypokalemia, Increased circulating creatine kinase MB isoform, Increas... |
ORPHA:466677 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Decreased response to growth hormone stimulation test, Hyperglycemia, Hypothyroidism, Patent duct... |
ORPHA:444077 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Hypoglycemia, Hyperglycemia, Inguinal hernia, Hyperammonemia, Microvesicular hepatic steatosis, I... |
OMIM:220111 |
Bardet-Biedl Syndrome |
|
Insulin resistance, Hepatic fibrosis, Decreased HDL cholesterol concentration, Hypogonadism, Impa... |
ORPHA:110 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Polysplenia, Umbilical hernia, Splenomegaly, Pancreatic islet-cell hyperplasia, Congenital diaphr... |
OMIM:312870 |