| Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
| Maturity-Onset Diabetes Of The Young, Type 11 |
|
Obesity, Overweight |
OMIM:613375 |
| Obesity |
|
Obesity, Increased waist to hip ratio |
OMIM:601665 |
| Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
| Abdominal Obesity-Metabolic Syndrome 1 |
|
Abdominal obesity |
OMIM:605552 |
| Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Abdominal obesity |
OMIM:605572 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic fibrosis, Hyperinsulinemia, Hepatic steatosis, Reduced subcutaneous adipose tissue, Hyper... |
ORPHA:280356 |
| Glycogen Storage Disease Vi |
|
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Failure to thrive in infan... |
OMIM:232700 |
| Prader-Willi syndrome (Type 1) |
|
Truncal obesity |
DECIPHER:14 |
| Prader-Willi Syndrome (Type 2) |
|
Truncal obesity |
DECIPHER:53 |
| Morbid Obesity And Spermatogenic Failure |
|
Insulin resistance, Obesity, Azoospermia, Type II diabetes mellitus, Hepatic steatosis, Increased... |
OMIM:615703 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Abnormal circulating insulin concentration, Large for gestational age, Hypoketotic hypoglycemia, ... |
ORPHA:293964 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Increased subcutaneous truncal adipose tissue, Increased adipose tissue around the neck, Increase... |
OMIM:608600 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Insulin resistance, Generalized lipodystrophy, Hepatosplenomegaly, Splenomegaly, Hepatic steatosi... |
OMIM:612526 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Xanthomatosis, Pancreatitis, Hepatomegal... |
ORPHA:79084 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Failure to thrive in infancy, Skin rash, Splenomegaly, Hypertriglyceridemia, Hepatomegaly |
OMIM:619175 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration,... |
OMIM:604367 |
| Lipase Deficiency, Combined |
|
Type II diabetes mellitus, Lipodystrophy, Pancreatitis, Hypertriglyceridemia, Tuberous xanthoma |
OMIM:246650 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Decreased adiponectin level, Irregular menstruation, Hepatic steatosis, Lipodystrophy, Hypertrigl... |
OMIM:615238 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset truncal obesity, Hypertrigl... |
ORPHA:71529 |
| Bardet-Biedl Syndrome 11 |
|
Obesity |
OMIM:615988 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Hypoglycemic seizures, Failure to thrive, Cholestasis, Decreased response to growth hormone stimu... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hypoglycemic seizures, Failure to thrive, Cholestasis, Decreased response to growth hormone stimu... |
ORPHA:71526 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Insulin resistance, Insulin-resistant diabetes mellitus, Increased i... |
ORPHA:79085 |
| Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
| Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hep... |
OMIM:614480 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... |
OMIM:256450 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hypoglycemic seizures, Maturity-onset diabetes of the young, Hyperinsulinemia, Excessive insulin ... |
ORPHA:324575 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyperplasia, Hyp... |
OMIM:601820 |
| Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Loss of glut... |
ORPHA:435651 |
| Necrobiosis Lipoidica |
|
Erythema, Indurated nodule, Inflammatory abnormality of the skin, Skin ulcer, Skin nodule, Atroph... |
ORPHA:542592 |
| Classic Mycosis Fungoides |
|
Erythema, Neoplasm of the skin, Eczematoid dermatitis, Hypopigmented skin patches, Skin ulcer, Ly... |
ORPHA:2584 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Loss of subcutaneous adipose tissue from upper limbs, Abnormal circulating lipid concentration, L... |
OMIM:608709 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Insulin resistance, Increased adipose tissue around the neck, Insuli... |
ORPHA:435660 |
| Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Lipodystrophy, Oligom... |
OMIM:613877 |
| Dracunculiasis |
|
Cellulitis, Limitation of joint mobility, Skin ulcer, Skin rash, Subcutaneous nodule, Arthritis, ... |
ORPHA:231 |
| Obesity And Hypopigmentation |
|
Overgrowth, Hyperinsulinemia, Obesity, Hepatic steatosis |
OMIM:620195 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Cellulitis, Elbow flexion contracture, Hepatosplenomegaly, Knee flexion contracture, Elevated cir... |
OMIM:604416 |
| Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
| Multiple Symmetric Lipomatosis |
|
Insulin resistance, Joint stiffness, Multiple lipomas, Hepatomegaly, Abnormal adipose tissue morp... |
ORPHA:2398 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Insulin resistance, Male hypogonadism, Elevated circulating hepatic transaminase concentration, D... |
OMIM:615381 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hyperinsul... |
ORPHA:276575 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hyperinsul... |
ORPHA:276580 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... |
OMIM:610021 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Hepatic steatosis, Dysmenorrhea, Cirrhosis, Loss of subcutan... |
ORPHA:79083 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Increased adipose tissue around the neck, Increased facial adipose tissue, Insulin-resistant diab... |
OMIM:151660 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Abnormal circulating insulin concentration, Abnormal circulating selenium concentration, Elevated... |
ORPHA:171706 |
| Juvenile Hyaline Fibromatosis |
|
Skin ulcer, Joint stiffness, Gingival fibromatosis, Aplasia/Hypoplasia of the skin, Progressive f... |
ORPHA:2028 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Increased LDL cholesterol concentration, Glucose intolerance, Gout, Type II diabetes mellitus, Hy... |
OMIM:610947 |
| Hemochromatosis, Type 4 |
|
Impotence, Increased circulating ferritin concentration, Glucose intolerance, Hepatic steatosis, ... |
OMIM:606069 |
| Congenital Generalized Lipodystrophy |
|
Insulin resistance, Precocious puberty in females, Failure to thrive, Hyperinsulinemia, Hepatic s... |
ORPHA:528 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Cellulitis, Insulin resistance, Splenomegaly, Hepatic steatosis, Xanthomatosis, Dysmenorrhea, Apl... |
ORPHA:2348 |
| Glycine N-Methyltransferase Deficiency |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypermethioninemia |
OMIM:606664 |
| Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Asymptomatic hyperammonemia, Failure to thrive, Hyperi... |
OMIM:606762 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Hypoglycemic seizures, Recurrent hypoglycemia, Excessive in... |
ORPHA:276556 |
| Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... |
OMIM:609968 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatic failure, Elevated circulating thyroid-stimulating hormone concentration, Failure to thriv... |
OMIM:617872 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Primary gonadal insufficiency, Hepatic steatosis, Insulin-resistant diabetes mellitus, Hypertrigl... |
ORPHA:436182 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Insulin resistance, Generalized lipodystrophy, Hyperinsulinemia, Hepatic steatosis, Reduced subcu... |
ORPHA:363400 |
| Beta-Thalassemia Intermedia |
|
Hepatosplenomegaly, Cirrhosis, Hypoparathyroidism, Hepatomegaly, Jaundice, Osteopenia, Cholelithi... |
ORPHA:231222 |
| X-Linked Agammaglobulinemia |
|
Cellulitis, Recurrent pneumonia, Hepatitis, Hypopigmented skin patches, Skin ulcer, Failure to th... |
ORPHA:47 |
| Ollier Disease |
|
Precocious puberty, Skin ulcer, Joint stiffness, Neoplasm, Visceral angiomatosis, Hemangioma, Sar... |
ORPHA:296 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hypoketotic hypoglycemia, Pallor, Reactive hypoglycemia, Pancreatic islet-cell ... |
ORPHA:276608 |
| Werner Syndrome |
|
Neoplasm of the oral cavity, Slender build, Type II diabetes mellitus, Decreased fertility, Melan... |
ORPHA:902 |
| Perlman Syndrome |
|
Naevus flammeus of the eyelid, Abnormal pancreas morphology, Capillary hemangioma, Tall stature, ... |
ORPHA:2849 |
| Galactokinase Deficiency |
|
Failure to thrive, Hypoglycemia, Hypergalactosemia, Hepatosplenomegaly, Hyperinsulinemia, Prematu... |
ORPHA:79237 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Insulin resistance, Abnormal circulating lipid concentration, Hyperlipidemia, Hepatic steatosis, ... |
OMIM:615980 |
| Beta-Thalassemia |
|
Cholelithiasis, Hepatitis, Skin ulcer, Pallor, Splenomegaly, Hypogonadotropic hypogonadism, Hepat... |
ORPHA:848 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Tall stature, Obesity |
OMIM:618406 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated circulating hepatic transaminase concentration, Glycosuria, Hyperinsulinemia, Hypophosph... |
ORPHA:263455 |
| Bardet-Biedl Syndrome 18 |
|
Obesity |
OMIM:615995 |
| Infantile Myofibromatosis |
|
Neoplasm of the skin, Chondrocalcinosis, Limitation of joint mobility, Skin ulcer, Osteolysis, Be... |
ORPHA:2591 |
| Insulin Autoimmune Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk... |
ORPHA:411593 |
| Dermatofibrosarcoma Protuberans |
|
Erythema, Neoplasm of the skin, Skin ulcer, Fibrosarcoma, Subcutaneous nodule |
ORPHA:31112 |
| Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Abnormal circulating bilirubin concentration, Elevated circulating aspartate aminotransferase con... |
OMIM:619874 |
| Autism, Susceptibility To, X-Linked 6 |
|
Obesity |
OMIM:300872 |
| Congenital Glucokinase-Related Hyperinsulinism |
|
Recurrent hypoglycemia, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Abnormal circulating ... |
ORPHA:79299 |
| Leishmaniasis |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Skin ulcer, Pallor, Spl... |
ORPHA:507 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity |
OMIM:619058 |
| Acquired Generalized Lipodystrophy |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid concentration... |
ORPHA:79086 |
| Mody |
|
Nephropathy, Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Glycosu... |
ORPHA:552 |
| Prolactin Deficiency With Obesity And Enlarged Testes |
|
Obesity |
OMIM:264120 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased circulating cortisol level, Increased urinary cortisol level, Hepatic steatosis, Increa... |
ORPHA:189427 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Large for gestational age, Obesity, Truncal obesity |
OMIM:240900 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Hyp... |
OMIM:603471 |
| Cholesteryl Ester Storage Disease |
|
Hepatic failure, Adrenal calcification, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertrigl... |
ORPHA:75234 |
| Hemochromatosis, Type 2A |
|
Increased circulating iron concentration, Increased circulating ferritin concentration, Azoosperm... |
OMIM:602390 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatic fibrosis, Osteopenia, Portal fibrosis, Elevated circulating hepatic transaminase concentr... |
ORPHA:369 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Increased adipose tissue around the neck, Hepatic steatosis, Reduced subcutaneous adipose tissue,... |
ORPHA:280365 |
| Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hypoglycemia, Recurrent hypoglycemia, Fasting hyperinsulinemia, Abnormal circ... |
ORPHA:263458 |
| Fanconi-Bickel Syndrome |
|
Nephropathy, Hypophosphatemia, Elevated circulating alanine aminotransferase concentration, Hepat... |
ORPHA:2088 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Delayed thelarche, Dorsocervical fat pad, Joint hypermobility, Delayed puberty, Hyperinsulinemic ... |
OMIM:616033 |
| Insulin-Resistance Syndrome Type B |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... |
ORPHA:2298 |
| Insulinomatosis And Diabetes Mellitus |
|
Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes mellitus, Hyperinsulinemic h... |
OMIM:147630 |
| Cryoglobulinemic Vasculitis |
|
Skin ulcer, Abnormality of the liver, Renal insufficiency, Splenomegaly, Petechiae, Hematuria, Pr... |
ORPHA:91138 |
| Immunodeficiency 114, Folate-Responsive |
|
Atopic dermatitis, Skin ulcer, Increased circulating ferritin concentration, Splenomegaly, Hypert... |
OMIM:620603 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Colon cancer, Hepatosplenomegaly, Hyperbilirubinemia, Hodgkin lymphoma, Hematological neoplasm, A... |
ORPHA:158057 |
| Ankylosing Vertebral Hyperostosis With Tylosis |
|
Obesity |
ORPHA:2206 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Inflammation of the large intestine, Folliculitis, Hepatitis, Increased circulating ferritin conc... |
OMIM:300635 |
| Free Sialic Acid Storage Disease |
|
Skin ulcer, Ascites, Failure to thrive in infancy, Splenomegaly, Proteinuria, Hepatomegaly, Nephr... |
ORPHA:834 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated circulating hepatic transaminase concentration, Umbilical hernia, Tall stature, Hyperins... |
OMIM:608594 |
| Papa Syndrome |
|
Type I diabetes mellitus, Limitation of joint mobility, Skin ulcer, Crohn's disease, Increased in... |
ORPHA:69126 |
| Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Erythematous papule, Skin ulcer, Hepatosplenomegaly, Erythematous plaque, Weight loss, Panniculitis |
ORPHA:86884 |
| Isolated Agammaglobulinemia |
|
Pneumonia, Cellulitis, Skin ulcer, Failure to thrive, Otitis media, Skin rash, Arthritis, Sinusit... |
ORPHA:229717 |
| Combined Oxidative Phosphorylation Deficiency 16 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:615395 |
| Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Hurthle cell thyroid adenoma, Penile freckling, Thyroid carcinoma, Hepatic steatosis, Intestinal ... |
ORPHA:210548 |
| Dietary Iron Overload Disease |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated transferrin saturation, Abnormal thyroid mo... |
ORPHA:139507 |
| Bardet-Biedl Syndrome 10 |
|
Obesity |
OMIM:615987 |
| Dysbetalipoproteinemia |
|
Tendon xanthomatosis, Decreased HDL cholesterol concentration, Xanthelasma, Obesity, Gout, Hepati... |
ORPHA:412 |
| Acrogeria |
|
Skin ulcer, Excessive wrinkled skin, Joint hypermobility, Aplasia/Hypoplasia of the skin, Lipoatr... |
ORPHA:2500 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... |
OMIM:301045 |
| Diarrhea 13 |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Recu... |
OMIM:620357 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Tall stature, Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Reduced subcutaneou... |
OMIM:269700 |
| Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, D... |
OMIM:619048 |
| Congenital Disorder Of Glycosylation, Type Icc |
|
Hepatomegaly |
OMIM:301031 |
| Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Obesity |
ORPHA:436141 |
| Cholesteryl Ester Storage Disease |
|
Hepatic bridging fibrosis, Acute hepatic failure, Adrenal calcification, Hepatosplenomegaly, Hype... |
OMIM:278000 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Increased serum leptin, Hyperinsulinemia, Obesity, Hyperlipidemia, Hypertrigl... |
OMIM:617885 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Obesity |
OMIM:309585 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Cholestasis, Hepatic steatosis, Dysmenorrhea, Increased body weight, Myoglobinuria, Cirrhosis, He... |
ORPHA:264580 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Obesity |
OMIM:608320 |
| Congenital Atransferrinemia |
|
Hypothyroidism, Arthritis, Abnormality of the pancreas |
ORPHA:1195 |
| Mandibuloacral Dysplasia |
|
Insulin resistance, Increased circulating free fatty acid level, Increased subcutaneous truncal a... |
ORPHA:2457 |
| Adenocarcinoma Of The Esophagus |
|
Obesity |
ORPHA:99976 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ... |
OMIM:616829 |
| Pyoderma Gangrenosum |
|
Inflammation of the large intestine, Rheumatoid arthritis, Skin ulcer, Atrophic scars, Myelodyspl... |
ORPHA:48104 |
| Ddost-Cdg |
|
Osteopenia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Dry skin,... |
ORPHA:300536 |
| Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Truncal obesity |
ORPHA:140941 |
| Lichen Planopilaris |
|
Hypopigmented skin patches, Hepatitis, Skin ulcer, Pterygium, Dermal atrophy, Neoplasm of the ora... |
ORPHA:525 |
| Glycogen Storage Disease Ixa1 |
|
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Hyperuricemi... |
OMIM:306000 |
| Obesity Due To Congenital Leptin Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:66628 |
| Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
| Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Mildly elevated creatine kinase, Elevated circulating hepatic transaminase concentration, Hepatic... |
OMIM:618400 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypermethioninemia, Intrahepatic cholestasis, Portal fibrosis, Failure to thrive, Decreased HDL c... |
OMIM:605814 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Keloids, Dry skin, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Secondary amenorrhea, Hy... |
ORPHA:3085 |
| Aplasia Cutis Congenita |
|
Erythema, Skin ulcer, Aplasia cutis congenita, Aplasia cutis congenita over the scalp vertex, Con... |
ORPHA:1114 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Conjunctivitis, Increased circulating ferritin concentration, Skin rash, Splenomegaly, Hypertrigl... |
OMIM:603552 |
| Acquired Partial Lipodystrophy |
|
Insulin resistance, Hepatic steatosis, Proteinuria, Microscopic hematuria, Lipoatrophy |
ORPHA:79087 |
| Hemochromatosis, Type 3 |
|
Impotence, Elevated circulating hepatic transaminase concentration, Increased circulating iron co... |
OMIM:604250 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia |
OMIM:615924 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic failure, Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia |
OMIM:261650 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... |
ORPHA:79644 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:179494 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Increased adipose tissue around the neck, Delayed cranial suture closure, Insulin-resistant diabe... |
OMIM:248370 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Acute hepatic steatosis, Hepatitis, Cholestasis, Obesity, Increased LDL cholesterol concentration... |
ORPHA:209902 |
| Glycogen Storage Disease Ixc |
|
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Increased he... |
OMIM:613027 |
| Hyperkeratosis Lenticularis Perstans |
|
Skin ulcer, Aplasia/Hypoplasia of the skin, Squamous cell carcinoma, Basal cell carcinoma, Papule |
ORPHA:409 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Generalized aminoaciduria, Failure to thrive, Hypoglycemia, Hyperinsulinemia, Renal tubular dysfu... |
OMIM:606528 |
| Chilblain Lupus |
|
Discoid lupus rash, Inflammatory abnormality of the skin, Erythematous papule, Skin ulcer, Chroni... |
ORPHA:90280 |
| Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
| Prolidase Deficiency |
|
Recurrent pneumonia, Eczematoid dermatitis, Skin ulcer, Failure to thrive, Elevated circulating a... |
OMIM:170100 |
| Farber Lipogranulomatosis |
|
Osteolysis involving bones of the feet, Failure to thrive, Splenomegaly, Joint swelling, Periarti... |
OMIM:228000 |
| Wilson Disease |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Failure to thrive, Acute hepa... |
ORPHA:905 |
| Hypertriglyceridemia 1 |
|
Atheroeruptive xanthoma, Hypopituitarism, Glucose intolerance, Increased VLDL cholesterol concent... |
OMIM:145750 |
| Niemann-Pick Disease, Type B |
|
Increased LDL cholesterol concentration, Splenomegaly, Hypertriglyceridemia, Decreased HDL choles... |
OMIM:607616 |
| Progressive Osseous Heteroplasia |
|
Limitation of joint mobility, Abnormality of the parathyroid gland, Hypermelanotic macule, Ectopi... |
ORPHA:2762 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Aminoaciduria, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Adren... |
OMIM:619386 |
| Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection |
|
Pyoderma gangrenosum, Chronic furunculosis, Cutaneous abscess |
OMIM:619986 |
| Fusariosis |
|
Pneumonia, Papule, Cellulitis, Keratitis, Skin ulcer, Fasciitis, Abnormality of the spleen, Abnor... |
ORPHA:228119 |
| Glycoprotein Storage Disease |
|
Gout, Splenomegaly |
OMIM:232900 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hyperglycemia, Cirrhosis, Weight loss, Hepatomegaly, Hypogonadotropic hypogonadism, Chronic hepat... |
ORPHA:465508 |
| Porphyria Cutanea Tarda |
|
Portal inflammation, Hepatic steatosis, Decreased circulating hepcidin concentration, Hematologic... |
ORPHA:101330 |
| Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Childhood-onset truncal obesity, Truncal obesity |
OMIM:610156 |
| Insulinoma |
|
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... |
ORPHA:97279 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Failure to thrive, Increased level of methylsuc... |
ORPHA:26792 |
| Syndromic X-Linked Intellectual Disability 7 |
|
Micropenis, Hypoplasia of penis, Obesity, Hypogonadism |
ORPHA:85274 |
| Atypical Werner Syndrome |
|
Neoplasm of the skin, Limitation of joint mobility, Insulin-resistant diabetes mellitus, Sclerosi... |
ORPHA:79474 |
| Leptin Deficiency Or Dysfunction |
|
Recurrent pneumonia, Hypogonadism, Obesity, Primary amenorrhea, Micropenis, Decreased serum leptin |
OMIM:614962 |
| Multiple Endocrine Neoplasia Type 4 |
|
Erythema, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urina... |
ORPHA:276152 |
| Reticular Dysgenesis |
|
Skin ulcer, Failure to thrive, Aplasia/Hypoplasia of the thymus, Skin rash, Weight loss, Chronic ... |
ORPHA:33355 |
| Diffuse Palmoplantar Keratoderma, Bothnian Type |
|
Erythema, Papule, Skin ulcer |
ORPHA:2337 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H... |
OMIM:620211 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Pneumonia, Atopic dermatitis, Verrucae, Skin ulcer, Squamous cell carcinoma of the vulva, Recurre... |
ORPHA:217390 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Splenomegaly, Skin ra... |
OMIM:617591 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Irregular menstruation, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration... |
ORPHA:79240 |
| Bdv Syndrome |
|
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Obesity, Ty... |
OMIM:619326 |
| Temple Syndrome |
|
Precocious puberty, Maturity-onset diabetes of the young, Recurrent otitis media, Obesity, Joint ... |
OMIM:616222 |
| Familial Chylomicronemia Syndrome |
|
Eruptive xanthomas, Failure to thrive, Increased circulating chylomicron concentration, Hepatospl... |
ORPHA:444490 |
| Bardet-Biedl Syndrome 5 |
|
Obesity |
OMIM:615983 |
| Reynolds Syndrome |
|
Skin ulcer, Ascites, Skin rash, Infectious encephalitis, Cirrhosis, Keratoconjunctivitis sicca, A... |
ORPHA:779 |
| Citrullinemia Type Ii |
|
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decre... |
ORPHA:247585 |
| Low Phospholipid-Associated Cholelithiasis |
|
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... |
ORPHA:69663 |
| Brooke-Spiegler Syndrome |
|
Basal cell carcinoma, Skin ulcer, Skin appendage neoplasm, Skin-colored papule, Salivary gland ne... |
ORPHA:79493 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hypoalbuminemia, Portal fibrosis, Failure to thrive, Increased total bilirubin, Elevated circulat... |
OMIM:619868 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hypopituitarism, Hepato... |
OMIM:619013 |
| Obesity-Hypoventilation Syndrome |
|
Obesity |
OMIM:257500 |
| Hernández-Aguirre Negrete Syndrome |
|
Obesity |
ORPHA:2139 |
| Microduplication Xp11.22P11.23 Syndrome |
|
Obesity |
ORPHA:217377 |
| Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:619324 |
| Squamous Cell Carcinoma Of The Anal Canal |
|
Skin ulcer, Neoplasm of the skeletal system, Neoplasm of the liver, Neoplasm of the rectum, Papil... |
ORPHA:424019 |
| Donohue Syndrome |
|
Precocious puberty, Hepatic fibrosis, Postprandial hyperglycemia, Long penis, Cholestasis, Hyperg... |
OMIM:246200 |
| Non-Acquired Isolated Growth Hormone Deficiency |
|
Microphallus, Premature skin wrinkling, Genu valgum, Delayed puberty, Abdominal obesity, Prolonge... |
ORPHA:631 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Asymptomatic hyperammonemia, Fasting hyperinsu... |
ORPHA:35878 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Delayed cranial suture closure, Dermal atrophy, Generalized ... |
OMIM:608612 |
| Cholestasis-Lymphedema Syndrome |
|
Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,... |
ORPHA:1414 |
| Dominant Beta-Thalassemia |
|
Hepatic fibrosis, Abnormality of iron homeostasis, Skin ulcer, Hypopituitarism, Failure to thrive... |
ORPHA:231226 |
| Proliferating Trichilemmal Cyst |
|
Skin ulcer, Epidermoid cyst |
ORPHA:492 |
| Mpi-Cdg |
|
Hypoalbuminemia, Hepatic fibrosis, Failure to thrive, Decreased liver function, Portal hypertensi... |
ORPHA:79319 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperinsulinemia, Obesity |
ORPHA:329249 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
| Neonatal Severe Primary Hyperparathyroidism |
|
Aminoaciduria, Abnormal circulating calcium-phosphate regulating hormone concentration, Abnormali... |
ORPHA:417 |
| Cubitus Valgus With Impaired Intellectual Development And Unusual Facies |
|
Truncal obesity |
OMIM:300471 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Insulin resistance, Osteopenia, Recurrent pneumonia, Elevated circulating hepatic transaminase co... |
OMIM:613327 |
| Atherosclerosis Susceptibility |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:108725 |
| Hyperlipoproteinemia, Type Id |
|
Eruptive xanthomas, Failure to thrive, Increased circulating chylomicron concentration, Splenomeg... |
OMIM:615947 |
| Chilblain Lupus 1 |
|
Skin ulcer, Chilblains |
OMIM:610448 |
| Flynn-Aird Syndrome |
|
Skin ulcer, Dermal atrophy, Joint stiffness, Primary adrenal insufficiency, Type II diabetes mell... |
ORPHA:2047 |
| Progressive Familial Intrahepatic Cholestasis |
|
Failure to thrive, Cholestasis, Neoplasm, Splenomegaly, Hypocalcemia, Hepatomegaly, Jaundice, Red... |
ORPHA:172 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Proximal tubulopathy, Failure to thrive, Rena... |
OMIM:602579 |
| Acquired Purpura Fulminans |
|
Hepatic failure, Macular purpura, Neoplasm, Skin rash, Macule, Elevated circulating C-reactive pr... |
ORPHA:49566 |
| Schnitzler Syndrome |
|
Lymphoma, Skin rash, Splenomegaly, Macule, Arthritis, Hepatomegaly, Increased bone mineral densit... |
ORPHA:37748 |
| Protoporphyria, Erythropoietic, 1 |
|
Erythema, Cholelithiasis, Hepatic failure, Eczematoid dermatitis, Hypertriglyceridemia |
OMIM:177000 |
| Bardet-Biedl Syndrome 19 |
|
Renal hypoplasia, Hypogonadism, Obesity, Renal insufficiency, Hepatic steatosis, Hydronephrosis |
OMIM:615996 |
| Beta-Thalassemia Major |
|
Hepatic fibrosis, Abnormality of iron homeostasis, Skin ulcer, Hypopituitarism, Failure to thrive... |
ORPHA:231214 |
| X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Hernia of the abdominal wall, Hypoplasia of penis, Obesity, Eczematoid dermatitis |
ORPHA:3055 |
| Osteochondrosis Of The Tarsal Bone |
|
Tarsal sclerosis, Abnormal tarsal ossification, Chondritis, Osteochondritis dissecans, Tarsal sti... |
ORPHA:563991 |
| Aromatase Deficiency |
|
Delayed epiphyseal ossification, Osteopenia, Insulin resistance, Female infertility, Male inferti... |
ORPHA:91 |
| Patent Ductus Venosus |
|
Hypergalactosemia, Hyperammonemia, Hepatic steatosis, Decreased liver function |
OMIM:601466 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... |
ORPHA:71212 |
| Cholestasis-Lymphedema Syndrome |
|
Elevated circulating hepatic transaminase concentration, Erysipelas, Neonatal cholestatic liver d... |
OMIM:214900 |
| Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Acral ulceration, Skin ulcer, Foot osteomyelitis |
ORPHA:139578 |
| 3-Methylglutaconic Aciduria Type 1 |
|
Hepatomegaly, Hypoglycemia, Failure to thrive, 3-Methylglutaconic aciduria |
ORPHA:67046 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating hepatic transaminase concentration, Elevated urinary 3-hydroxybutyric acid, ... |
ORPHA:42 |
| Felty Syndrome |
|
Cellulitis, Recurrent pneumonia, Limitation of joint mobility, Lymphoma, Abnormal joint morpholog... |
ORPHA:47612 |
| Intellectual Developmental Disorder, X-Linked 91 |
|
Obesity |
OMIM:300577 |
| Adiposis Dolorosa |
|
Obesity |
OMIM:103200 |
| Chronic Granulomatous Disease |
|
Eczematoid dermatitis, Skin ulcer, Splenomegaly, Otitis media, Inflammatory abnormality of the ey... |
ORPHA:379 |
| Apolipoprotein C-Ii Deficiency |
|
Eruptive xanthomas, Increased circulating chylomicron concentration, Splenomegaly, Pancreatitis, ... |
OMIM:207750 |
| Talo-Patello-Scaphoid Osteolysis |
|
Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis, Enlarged joints |
ORPHA:50809 |
| Majeed Syndrome |
|
Inflammatory abnormality of the skin, Failure to thrive, Osteomyelitis, Splenomegaly, Increased s... |
ORPHA:77297 |
| Polycystic Ovary Syndrome 1 |
|
Obesity |
OMIM:184700 |
| Hypoglycemia, Leucine-Induced |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:240800 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Precocious puberty, Postprandial hyperglycemia, Long penis, Insulin-resistant diabetes mellitus, ... |
OMIM:262190 |
| Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Elbow flexion contracture, Increased LDL cholesterol concentration, Elevated circulating creatine... |
OMIM:616516 |
| Hereditary Spherocytosis |
|
Cholelithiasis, Skin ulcer, Hyperbilirubinemia, Gout, Splenomegaly, Pallor, Hepatomegaly, Jaundic... |
ORPHA:822 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, R... |
ORPHA:79303 |
| Prolidase Deficiency |
|
Erythema, Skin ulcer, Dry skin, Genu valgum, Splenomegaly, Crusting erythematous dermatitis, Apla... |
ORPHA:742 |
| Hypoalphalipoproteinemia, Primary, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:604091 |
| Cortisone Reductase Deficiency 2 |
|
Obesity |
OMIM:614662 |
| Bardet-Biedl Syndrome 16 |
|
Recurrent otitis media, Hypogonadism, Obesity, Stage 5 chronic kidney disease, Renal insufficienc... |
OMIM:615993 |
| Graft Versus Host Disease |
|
Inflammatory abnormality of the skin, Hepatosplenomegaly, Hyperbilirubinemia, Lichenoid skin lesi... |
ORPHA:39812 |
| Senior-Loken Syndrome 9 |
|
Hepatic fibrosis, Osteopenia, Nephronophthisis, Cholestasis, Hypogonadism, Obesity, Stage 5 chron... |
OMIM:616629 |
| Immunodeficiency 104 |
|
Pneumonia, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Failure to thrive secondary ... |
OMIM:608971 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity |
ORPHA:88643 |
| Galactosemia Iv |
|
Hepatomegaly, Prolonged neonatal jaundice, Hypergalactosemia |
OMIM:618881 |
| Sweet Syndrome |
|
Inflammation of the large intestine, Erythematous papule, Acne inversa, Skin nodule, Predominantl... |
ORPHA:3243 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Small cell lung carcinoma, Malignant gastrointestinal tract tumors, Increased circulating cortiso... |
ORPHA:99889 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Inflammation of the large intestine, Periodontitis, Xanthelasma, Hepatic steatosis, Tubulointerst... |
ORPHA:79259 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbilirubinemia, S... |
OMIM:620010 |
| Estrogen Resistance Syndrome |
|
Delayed epiphyseal ossification, Osteopenia, Absence of secondary sex characteristics, Absence of... |
ORPHA:785 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Type I diabetes mellitus, Elevated circulating hepatic transaminase concentration, Eczematoid der... |
OMIM:615688 |
| Idiopathic Copper-Associated Cirrhosis |
|
Hepatic steatosis, Increased circulating copper concentration, Cirrhosis, Copper accumulation in ... |
ORPHA:209919 |
| Calciphylaxis |
|
Cellulitis, Ectopic ossification, Hyperphosphatemia, Skin ulcer, Stage 5 chronic kidney disease, ... |
ORPHA:280062 |
| Cortisone Reductase Deficiency 1 |
|
Precocious puberty, Obesity, Oligomenorrhea, Infertility, Acne |
OMIM:604931 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Splenomegaly, Recurrent sinusitis, Hodgkin lymphoma, Hypertriglyceridemia, Bronchiectasis |
OMIM:620282 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hepatosplenomegaly, Hypertriglyceridemia |
OMIM:608898 |
| Cushing Disease |
|
Increased circulating cortisol level, Increased urinary cortisol level, Adrenal hyperplasia, Incr... |
ORPHA:96253 |
| Seckel Syndrome 10 |
|
Insulin resistance, Elevated circulating luteinizing hormone level, Glycosuria, Elevated circulat... |
OMIM:617253 |
| Hepatic Veno-Occlusive Disease |
|
Elevated circulating hepatic transaminase concentration, Increased total bilirubin, Ascites, Rena... |
ORPHA:890 |
| Alstrom Syndrome |
|
Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration, Hyperglycemia, Hype... |
OMIM:203800 |
| Chronic Mucocutaneous Candidiasis |
|
Erythema, Papule, Hepatitis, Skin ulcer, Abnormal dental enamel morphology, Skin rash, Hematuria,... |
ORPHA:1334 |
| Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency |
|
Cellulitis, Osteopenia, Eczematoid dermatitis, Skin ulcer, Lymphoma, Osteomyelitis, Skin rash, Jo... |
ORPHA:2314 |
| Bardet-Biedl Syndrome 22 |
|
Obesity, Large for gestational age |
OMIM:617119 |
| Carnitine Deficiency, Systemic Primary |
|
Decreased circulating carnitine concentration, Failure to thrive, Dicarboxylic aciduria, Recurren... |
OMIM:212140 |
| Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Glucose intolerance, Obesity |
ORPHA:369873 |
| Hemochromatosis, Type 2B |
|
Hepatic fibrosis, Increased circulating iron concentration, Elevated circulating hepatic transami... |
OMIM:613313 |
| Limited Cutaneous Systemic Sclerosis |
|
Skin ulcer, Joint contracture of the hand, Foot joint contracture, Hypopigmented skin patches |
ORPHA:220402 |
| Microscopic Polyangiitis |
|
Erythema, Uveitis, Oliguria, Skin ulcer, Episcleritis, Skin rash, Renal insufficiency, Increased ... |
ORPHA:727 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Painless fractures due to injury, Recurrent hypoglycemia, Cholestasis, Acute hepatic failure, Hep... |
OMIM:256810 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hypoalbuminemia, Failure to thrive in infancy, Hepatic steatosis, Pancreatitis, Elevated circulat... |
OMIM:618805 |
| Tangier Disease |
|
Decreased HDL cholesterol concentration, Dry skin, Splenomegaly, Elevated circulating apolipoprot... |
OMIM:205400 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Increased urinary glycerol, Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Increased LDL ch... |
ORPHA:247598 |
| Takayasu Arteritis |
|
Skin ulcer, Increased inflammatory response, Weight loss, Arthritis, Inflammatory abnormality of ... |
ORPHA:3287 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 1 |
|
Class III obesity |
OMIM:616418 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Synostosis of carpal bones, Abnormal circulating lipid concentration, Obesity, Type II diabetes m... |
ORPHA:3191 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Fish-Eye Disease |
|
Increased VLDL cholesterol concentration, Increased LDL cholesterol concentration, Decreased HDL ... |
OMIM:136120 |
| Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Obesity |
OMIM:300209 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly, Recurrent sinusit... |
OMIM:613101 |
| Laurence-Moon Syndrome |
|
Obesity, Type II diabetes mellitus, Renal insufficiency, Congenital hepatic fibrosis, Displacemen... |
ORPHA:2377 |
| Congenital Factor Xii Deficiency |
|
Penetrating foot ulcers |
ORPHA:330 |
| Mueller-Weiss Syndrome |
|
Joint subluxation, Sclerosis of foot bone, Joint stiffness, Chondritis, Limitation of movement at... |
ORPHA:566943 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... |
OMIM:616828 |
| Polyarteritis Nodosa |
|
Erythema, Skin ulcer, Weight loss, Elevated circulating C-reactive protein concentration, Subcuta... |
ORPHA:767 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Osteopenia, Decreased serum estradiol, Elevated circulating hepatic transaminase concentration, S... |
ORPHA:2959 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Cholestatic liver disease, Hypoalbuminemia, Elevated circulating hepatic transaminase concentrati... |
ORPHA:540 |
| Dermatoosteolysis, Kirghizian Type |
|
Keratitis, Skin ulcer, Abnormality of the wrist, Aplasia/Hypoplasia of the skin, Osteoarthritis, ... |
ORPHA:1657 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Obesity |
OMIM:620270 |
| Combined Oxidative Phosphorylation Deficiency 9 |
|
Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Hepatic steatos... |
OMIM:614582 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:615158 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Chronic kidney disease, Hepatic fibrosis, Hepatic failure, Nephronophthisis, Cholestasis, Obesity... |
OMIM:615630 |
| Dyskeratosis Congenita |
|
Hepatic failure, Blepharitis, Periodontitis, Hypopigmented skin patches, Skin ulcer, Lymphoma, Re... |
ORPHA:1775 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatic failure, Ketonuria, Increased hepatic echogenicity, Hypoglycemia, Hepatic steatosis, Low ... |
OMIM:261680 |
| Pfapa Syndrome |
|
Splenomegaly, Infectious encephalitis, Weight loss, Arthritis, Hepatomegaly |
ORPHA:42642 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Acute kidney injury, Elevated circulating creatinine concentration, Renal insufficiency, Skin ras... |
ORPHA:567544 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Recurrent otitis media, Elevated circulating aspartate aminotransferase concentration, Hepatosple... |
OMIM:615559 |
| Hypercholesterolemia, Familial, 4 |
|
Tendon xanthomatosis, Decreased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholest... |
OMIM:603813 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Pallor, Splenomegaly |
ORPHA:46532 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Elevated circulating hepatic transaminase concentration, Ketonuria, Dicarboxylic aciduria, Elevat... |
OMIM:255120 |
| Activated Pi3K-Delta Syndrome |
|
Pneumonia, Failure to thrive, Lymphoma, Recurrent otitis media, Splenomegaly, Chronic sinusitis, ... |
ORPHA:397596 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia |
OMIM:609016 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Neonatal cholestatic ... |
ORPHA:79301 |
| Infantile Systemic Hyalinosis |
|
Osteopenia, Skin ulcer, Aplasia/Hypoplasia of the thymus, Camptodactyly of finger, Osteomalacia, ... |
ORPHA:2176 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Hepatomegaly, Large for gestational age |
ORPHA:2432 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
| Galactosemia Iii |
|
Aminoaciduria, Galactosuria, Failure to thrive, Splenomegaly, Hepatomegaly, Jaundice, Hypergalact... |
OMIM:230350 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Conjunctival hamartoma, Weight loss, Erythroderma, Skin ulcer |
ORPHA:312 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Hepatomegaly, Very long chain fatty acid accumulation, Elevated circulating hepatic transaminase ... |
OMIM:264470 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Pneumonia, Osteopenia, Cellulitis, Periodontitis, Leukemia, Recurrent aphthous stomatitis, Myelod... |
ORPHA:486 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Periportal fibrosis, Decreased circulating carnitine concentration, Hepatocellular necrosis, Dica... |
OMIM:201475 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Osteoporosis, Macrovesicular hepatic steatosis, Failure to thrive |
OMIM:618234 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, Hyperammonemia... |
OMIM:600649 |
| 11P15.4 Microduplication Syndrome |
|
Obesity |
ORPHA:300305 |
| Tyrosinemia Type 1 |
|
Generalized aminoaciduria, Acute hepatic failure, Rickets of the lower limbs, Splenomegaly, Hepat... |
ORPHA:882 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,... |
OMIM:618528 |
| Hemochromatosis, Type 1 |
|
Impotence, Elevated circulating hepatic transaminase concentration, Increased circulating iron co... |
OMIM:235200 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Failure to thrive, Decreased liver f... |
OMIM:617093 |
| Immunodeficiency 61 |
|
Obesity |
OMIM:300310 |
| Morm Syndrome |
|
Truncal obesity |
ORPHA:75858 |
| Autoimmune Hepatitis |
|
Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Vir... |
ORPHA:2137 |
| Neuropathy, Hereditary Sensory, Type Iic |
|
Acral ulceration |
OMIM:614213 |
| Congenital Macroglossia |
|
Abnormal hepatic glycogen storage, Hypothyroidism, Neurofibroma |
ORPHA:2430 |
| Nephronophthisis 15 |
|
Obesity, Elevated circulating hepatic transaminase concentration, Nephronophthisis |
OMIM:614845 |
| Osteochondrosis Of The Metatarsal Bone |
|
Sclerosis of foot bone, Progressive joint destruction, Joint stiffness, Chondritis, Osteochondros... |
ORPHA:564003 |
| Dowling-Degos Disease |
|
Palmar pits, Hyperkeratotic papule, Erythematous papule, Acne inversa, Epidermoid cyst, Hyperpigm... |
ORPHA:79145 |
| Glycogen Storage Disease Ia |
|
Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Hypo... |
OMIM:232200 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, E... |
OMIM:251880 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Obesity |
OMIM:613886 |
| Short Stature, Dauber-Argente Type |
|
Osteopenia, Reduced bone mineral density, Increased insulin like growth factor binding protein ac... |
OMIM:619489 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole... |
ORPHA:541423 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... |
OMIM:605911 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Abnormality of the humeroulnar joint, Hypogonadism, Obesity, Abnormality of the thyroid gland, Ty... |
ORPHA:2234 |
| Macrophage Activation Syndrome |
|
Hypoalbuminemia, Hepatitis, Decreased liver function, Increased circulating ferritin concentratio... |
ORPHA:158061 |
| Parenteral Nutrition-Associated Cholestasis |
|
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... |
ORPHA:567983 |
| Galactosemia I |
|
Aminoaciduria, Galactosuria, Increased level of galactitol in red blood cells, Failure to thrive,... |
OMIM:230400 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Cholestasis, Decreased response to growth hormone stimulation test, Adrenal insufficiency, Obesit... |
OMIM:609734 |
| Disabling Pansclerotic Morphea Of Childhood |
|
Elevated circulating C-reactive protein concentration, Squamous cell carcinoma of the skin, Skin ... |
OMIM:620443 |
| Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Skin ulcer, Penetrating foot ulcers, Pathologic fracture, Osteomyelitis, Neuropathic arthropathy |
ORPHA:36386 |
| Xq27.3Q28 Duplication Syndrome |
|
Failure to thrive, Truncal obesity |
ORPHA:261483 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Pituitary adenoma, Striae distensae, Increased circulating ACTH level, Obesity, Glucose intoleran... |
OMIM:219090 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Osteopenia, Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, ... |
OMIM:610475 |
| Infantile Liver Failure Syndrome 3 |
|
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ... |
OMIM:618641 |
| Mehmo Syndrome |
|
Male hypogonadism, Hypoglycemia, Decreased response to growth hormone stimulation test, Obesity, ... |
OMIM:300148 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated circulating acylcarnitine concentration, Hepatic failure, Elevated circulating hepatic t... |
ORPHA:228305 |
| Aplasia Cutis-Myopia Syndrome |
|
Aplasia cutis congenita, Skin ulcer |
ORPHA:1117 |
| Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Aplasia/Hypoplasia of the skin, Purpura, Skin ulcer, Thin skin |
ORPHA:743 |
| Proprotein Convertase 1/3 Deficiency |
|
Elevated circulating proinsulin concentration, Obesity, Reactive hypoglycemia, Hypogonadotropic h... |
OMIM:600955 |
| Multicentric Reticulohistiocytosis |
|
Skin nodule, Cachexia, Arthritis |
ORPHA:139436 |
| Combined Oxidative Phosphorylation Deficiency 21 |
|
Hyperprolinemia, Hyperalaninemia, Hepatic steatosis |
OMIM:615918 |
| Autosomal Agammaglobulinemia |
|
Cellulitis, Bronchiectasis, Verrucae, Hepatitis, Failure to thrive, Osteomyelitis, Skin rash, Art... |
ORPHA:33110 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Osteopenia, Decreased circulating dehydroepiandrosterone concentration, Secondary amenorrhea, Inc... |
OMIM:610489 |
| Gracile Syndrome |
|
Increased circulating ferritin concentration, Cholestasis, Hepatic steatosis, Renal Fanconi syndr... |
ORPHA:53693 |
| 48,Xxyy Syndrome |
|
Elbow dislocation, Lymphoma, Abnormal dental enamel morphology, Tall stature, Obesity, Azoospermi... |
ORPHA:10 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Joint hypermobi... |
OMIM:614727 |
| Wolman Disease |
|
Failure to thrive, Acute hepatic failure, Adrenal calcification, Splenomegaly, Hepatomegaly |
OMIM:620151 |
| Morgagni-Stewart-Morel Syndrome |
|
Obesity, Abnormality of the thyroid gland, Hyperuricemia, Hypothyroidism, Hypercholesterolemia, O... |
ORPHA:77296 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Recurrent pneumonia, Recurrent aphthous stomatitis, Splenomegaly, Pyoderma gangrenosum, Bronchiec... |
OMIM:150550 |
| Meige Disease |
|
Cellulitis, Skin erosion, Atypical scarring of skin, Skin ulcer, Angiosarcoma, Recurrent skin inf... |
ORPHA:90186 |
| Infantile Liver Failure Syndrome 1 |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute hepatic failure... |
OMIM:615438 |
| Livedoid Vasculopathy |
|
Erythematous papule, Skin ulcer, Graves disease, Macular purpura, Abnormal circulating lipid conc... |
ORPHA:542643 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoalbuminemia, Failure to thrive, Increased circulating ferritin concentration, Increased total... |
OMIM:267700 |
| Glycogen Storage Disease Iii |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hyperlip... |
OMIM:232400 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Obesity |
OMIM:618725 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphoma, Splenomegaly, B-cell lymphoma, Weight loss, Hepatomegaly, Breast carcinoma |
ORPHA:86893 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Hepatomegaly, Abnormal circulating creatine kinase concentration, Elevated circulating hepatic tr... |
ORPHA:369840 |
| Werner Syndrome |
|
Osteosarcoma, Meningioma, Hypogonadism, Elevated circulating aspartate aminotransferase concentra... |
OMIM:277700 |
| Congenital Disorder Of Glycosylation, Type Ik |
|
Hypogonadism, Splenomegaly, Joint contracture, Hepatomegaly, Flexion contracture |
OMIM:608540 |
| Muckle-Wells Syndrome |
|
Nephropathy, Nephrotic syndrome, Camptodactyly of finger, Recurrent aphthous stomatitis, Episcler... |
ORPHA:575 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Hypoa... |
ORPHA:567548 |
| Familial Keratoacanthoma |
|
Skin ulcer, Neoplasm, Papilloma, Adenoma sebaceum, Subcutaneous nodule, Papule |
ORPHA:493 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Cholestatic liver disease, Failure to thrive, Polysplenia, Hypoglycemia, Exocri... |
OMIM:619418 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Subcutaneous panniculitis-like T-cell lymphoma, Increased circulating ferritin concentration, Spl... |
OMIM:618398 |
| Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Nephritis, Arthritis |
OMIM:216950 |
| Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Erythema, Neoplasm of the skin, Skin ulcer, Melanoma, Skin fissure, Ankylosis, Osteolysis, Neopla... |
ORPHA:659 |
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Hip osteoarthritis, Ankle swelling, Hepatosplenomegaly, Joint stiffness, Abnormal hip joint morph... |
ORPHA:85408 |
| Blau Syndrome |
|
Nephropathy, Erythema, Limitation of joint mobility, Dry skin, Synovitis, Iridocyclitis, Erythema... |
ORPHA:90340 |
| Eng-Strom Syndrome |
|
Arthritis, Camptodactyly of finger |
ORPHA:1937 |
| H Syndrome |
|
Osteolysis, Hypogonadism, Hepatosplenomegaly, Recurrent fractures, Psoriasiform dermatitis, Azoos... |
ORPHA:168569 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Generalized osteoporosis, Homocystinuria, Hypermethioninemia, Limitation of joint mobility, Failu... |
OMIM:236200 |
| Brachydactylous Dwarfism, Mseleni Type |
|
Osteopenia, Hip osteoarthritis, Abnormality of the ankle, Osteoarthritis of the elbow, Limitation... |
ORPHA:2619 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Joint swelling, Skin rash, Splenomegaly, Elevated circulating C-reactive protein concentration, A... |
ORPHA:85414 |
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Hyperglycinuria, Elevated circulating hepatic transaminase concentration, Decreased circulating c... |
OMIM:201450 |
| Diffuse Cutaneous Systemic Sclerosis |
|
Oliguria, Skin ulcer, Renal insufficiency, Dyspareunia, Arthritis, Flexion contracture, Osteolysis |
ORPHA:220393 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Truncal obesity, Abdominal obesity |
OMIM:618160 |
| Blue Diaper Syndrome |
|
Nephrocalcinosis, Elevated circulating hepatic transaminase concentration, Increased proinsulin:i... |
ORPHA:94086 |
| Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Osteopenia, Limitation of joint mobility, Polyarticular arthritis, Progressive joint destruction,... |
ORPHA:85435 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Failure to thrive in infancy, Obesity |
OMIM:613670 |
| Biemond Syndrome Type 2 |
|
Hypogonadism, Obesity, Hypogonadotropic hypogonadism, Delayed puberty, Hypospadias |
ORPHA:141333 |
| Adrenomyodystrophy |
|
Failure to thrive, Megacystis, Primary adrenal insufficiency, Hepatic steatosis, Reduced bone min... |
ORPHA:977 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Hypermethioninemia, Portal fibrosis, Elevated circulating S-adenosyl-L-homocysteine concentration... |
OMIM:614300 |
| Glycogen Storage Disease Ib |
|
Focal segmental glomerulosclerosis, Inflammation of the large intestine, Elevated circulating hep... |
OMIM:232220 |
| Aicardi-Goutieres Syndrome 9 |
|
Dry skin, Hepatosplenomegaly, Hepatic steatosis, Chilblains, Weight loss, Glomerular sclerosis, H... |
OMIM:619487 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... |
ORPHA:79506 |
| Estrogen Resistance |
|
Osteopenia, Hyperinsulinemia, Increased serum estradiol, Glucose intolerance, Increased circulati... |
OMIM:615363 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Congenital hip dislocation, Dry skin, Congenital hypothyroidism, Increased body weight, Wormian b... |
OMIM:614450 |
| Generalized Pustular Psoriasis |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Obesity, Renal insuffic... |
ORPHA:247353 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Absence of pubertal development, Obesity, Hypogonadotropic hypogonadism, Primary amenorrhea, Micr... |
OMIM:610628 |
| Glycogen Storage Disease Ixb |
|
Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content, Hepatomegaly, Incr... |
OMIM:261750 |
| Malakoplakia |
|
Inflammatory abnormality of the skin, Skin ulcer, Urinary bladder inflammation, Abnormality of th... |
ORPHA:556 |
| Bardet-Biedl Syndrome 8 |
|
Obesity |
OMIM:615985 |
| Neutral Lipid Storage Disease With Myopathy |
|
Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Splenomegaly, Hepa... |
OMIM:610717 |
| Macrocephaly/Autism Syndrome |
|
Recurrent otitis media, Obesity, Penile freckling, Large for gestational age, Splenomegaly, Joint... |
OMIM:605309 |
| Bardet-Biedl Syndrome 4 |
|
Hypogonadism, Renal cyst, Obesity |
OMIM:615982 |
| Perrault Syndrome 4 |
|
Decreased serum estradiol, Obesity, Premature ovarian insufficiency, Cubitus valgus, Hypoplasia o... |
OMIM:615300 |
| Alpha-Mannosidosis |
|
Synostosis of joints, Type II diabetes mellitus, Splenomegaly, Inguinal hernia, Arthritis, Hepato... |
ORPHA:61 |
| Galactose Mutarotase Deficiency |
|
Failure to thrive, Decreased liver function, Cholestasis, Hepatomegaly, Hypergalactosemia |
ORPHA:570422 |
| Lysosomal Acid Lipase Deficiency |
|
Adrenal calcification, Hepatosplenomegaly, Hypersplenism, Xanthelasma, Fatal liver failure in inf... |
ORPHA:275761 |
| Mucopolysaccharidosis, Type Ix |
|
Chondrocalcinosis, Popliteal synovial cyst, Recurrent otitis media, Wrist hypermobility, Periarti... |
OMIM:601492 |
| Abdominal Obesity-Metabolic Syndrome 4 |
|
Decreased HDL cholesterol concentration, Obesity, Increased LDL cholesterol concentration, Type I... |
OMIM:618620 |
| Bardet-Biedl Syndrome 7 |
|
Obesity |
OMIM:615984 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Osteopenia, Increased circulating cortisol level, Striae distensae, Decreased circulating ACTH co... |
OMIM:219080 |
| Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Obesity |
OMIM:619755 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Precocious puberty, Maturity-onset diabetes of the young, Recurrent otitis media, Obesity, Joint ... |
ORPHA:254531 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating acylcarnitine concentration, Hepatic failure, Red-brown urine, Dicarboxylic ... |
ORPHA:228308 |
| Melorheostosis |
|
Atypical scarring of skin, Failure to thrive, Joint stiffness, Ectopic ossification in muscle tis... |
ORPHA:2485 |
| Galactose Epimerase Deficiency |
|
Aminoaciduria, Splenomegaly, Weight loss, Hepatomegaly, Jaundice |
ORPHA:79238 |
| Coenzyme Q10 Deficiency, Primary, 2 |
|
Obesity, Overweight |
OMIM:614651 |
| Ehlers-Danlos Syndrome, Hypermobility Type |
|
Joint dislocation, Striae distensae, Joint hypermobility, Scarring, Osteoarthritis |
OMIM:130020 |
| Dermatomyositis |
|
Cellulitis, Erythema, Dry skin, Lung adenocarcinoma, Weight loss, Heliotrope rash, Myositis, Arth... |
ORPHA:221 |
| Adult Polyglucosan Body Disease |
|
Limitation of joint mobility, Skin ulcer, Urinary bladder sphincter dysfunction, Neurogenic bladd... |
ORPHA:206583 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Elbow flexion contracture, Joint stiffness, Obesity, Increased LDL cholesterol concentration, Hyp... |
ORPHA:98855 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Proteinuria, Renal insufficiency, Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:245900 |
| Eosinophilic Fasciitis |
|
Cellulitis, Fasciitis, Myositis, Weight loss, Macule, Arthritis, Subcutaneous nodule |
ORPHA:3165 |
| Blau Syndrome |
|
Uveitis, Nongranulomatous uveitis, Eczematoid dermatitis, Skin ulcer, Camptodactyly of finger, Jo... |
OMIM:186580 |
| Giant Cell Arteritis |
|
Hepatic failure, Skin ulcer, Joint stiffness, Renal insufficiency, Hematuria, Weight loss, Arthri... |
ORPHA:397 |
| Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Osteomyelitis, Dry skin, Nevus spilus, Hypertriglyceridemia, Chronic otitis media |
OMIM:618010 |
| Mitochondrial Myopathy, Infantile, Transient |
|
Decreased circulating carnitine concentration, Failure to thrive, Increased muscle lipid content,... |
OMIM:500009 |
| Isolated Polycystic Liver Disease |
|
Increased total bilirubin, Multiple renal cysts, Hepatomegaly, Polycystic liver disease, Abnormal... |
ORPHA:2924 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Obesity, Azoospermia, Cubitus valgus, Abnormality of the hypothalamus-pituitary axis, Hypergonado... |
