| Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
| Maturity-Onset Diabetes Of The Young, Type 11 |
|
Overweight, Obesity |
OMIM:613375 |
| Obesity |
|
Increased waist to hip ratio, Obesity |
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 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
ORPHA:280356 |
| Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Oligo... |
OMIM:615703 |
| Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thriv... |
OMIM:232700 |
| Prader-Willi syndrome (Type 1) |
|
Truncal obesity |
DECIPHER:14 |
| Prader-Willi Syndrome (Type 2) |
|
Truncal obesity |
DECIPHER:53 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride... |
OMIM:608600 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Lipod... |
OMIM:612526 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Xanthomatosis... |
ORPHA:79084 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Hypertriglyceridemia, Skin rash, Failure to thrive in infancy, Splenomegaly |
OMIM:619175 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... |
OMIM:604367 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... |
OMIM:615238 |
| Lipase Deficiency, Combined |
|
Hypertriglyceridemia, Lipodystrophy, Tuberous xanthoma, Type II diabetes mellitus, Pancreatitis |
OMIM:246650 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... |
ORPHA:79085 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:435651 |
| Bardet-Biedl Syndrome 11 |
|
Obesity |
OMIM:615988 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71526 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes melli... |
ORPHA:71529 |
| Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
| Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... |
OMIM:614480 |
| Necrobiosis Lipoidica |
|
Inflammatory abnormality of the skin, Diabetes mellitus, Indurated nodule, Abnormality of the thy... |
ORPHA:542592 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypogl... |
ORPHA:324575 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:435660 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... |
OMIM:256450 |
| Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... |
OMIM:601820 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Diabetes mellitus, Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic sy... |
OMIM:608709 |
| Classic Mycosis Fungoides |
|
Hepatomegaly, Skin rash, Eczema, Cutaneous T-cell lymphoma, Splenomegaly, Erythema, Lymphoma, Hyp... |
ORPHA:2584 |
| Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia, Lipodystrophy, Lipoatrophy, Insulin-resistant diabetes mellitus, Insulin re... |
OMIM:613877 |
| Dracunculiasis |
|
Recurrent cutaneous abscess formation, Skin rash, Flexion contracture, Limitation of joint mobili... |
ORPHA:231 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Diabet... |
OMIM:615381 |
| Summitt Syndrome |
|
Obesity |
OMIM:272350 |
| Multiple Symmetric Lipomatosis |
|
Hepatomegaly, Joint stiffness, Insulin resistance, Multiple lipomas, Abnormal adipose tissue morp... |
ORPHA:2398 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Acne, Elevated circulating C-reactive protein concentration, Elbow flexion contracture, Pyoderma ... |
OMIM:604416 |
| Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Elevated ci... |
OMIM:610717 |
| Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
| Obesity And Hypopigmentation |
|
Hepatic steatosis, Overgrowth, Hyperinsulinemia, Obesity |
OMIM:620195 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Increased C-peptide level, Large for gestational age, Hyperinsulinemia, Hypoglycemi... |
ORPHA:276575 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Maternal diabetes, Increased C-peptide level, Large for gestational age, Hyperinsul... |
ORPHA:276580 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Dysmenorrhea, Maternal diabetes, Xanthomatosis, Hepatic steatosis, Loss of facial adipose tissue,... |
ORPHA:79083 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Elevated hepatic transaminase, Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia |
ORPHA:329249 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... |
ORPHA:171706 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Impaired glucose tolerance, Osteoporosis, Gout, Increased LDL cholesterol c... |
OMIM:610947 |
| Hemochromatosis, Type 4 |
|
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce... |
OMIM:606069 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Acute panc... |
OMIM:151660 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Aplasia/Hypoplasia of the skin, Diabe... |
ORPHA:2348 |
| Juvenile Hyaline Fibromatosis |
|
Aplasia/Hypoplasia of the skin, Progressive flexion contractures, Joint stiffness, Subcutaneous n... |
ORPHA:2028 |
| Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Diabetes mellitus, Precocious puberty in females, Hypercholesterolemia, Hypertrigly... |
ORPHA:528 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Hepatic steatosis, Hypertrigl... |
ORPHA:436182 |
| Glycine N-Methyltransferase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypermethioninemia |
OMIM:606664 |
| Perlman Syndrome |
|
Hepatomegaly, Hypoplasia of penis, Inguinal hernia, Femoral hernia, Cryptorchidism, Hyperinsuline... |
ORPHA:2849 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Reactive hypoglycemia, Increased C-peptide level, Large for gestational age, Hypogl... |
ORPHA:276556 |
| Beta-Thalassemia Intermedia |
|
Osteopenia, Reduced bone mineral density, Abnormality of the liver, Pallor, Elevated hepatic iron... |
ORPHA:231222 |
| Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... |
OMIM:609968 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Reduced intraabdominal a... |
ORPHA:363400 |
| X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Recurrent pneumonia, ... |
ORPHA:47 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Large for gestational age, ... |
ORPHA:293964 |
| Ollier Disease |
|
Chondrosarcoma, Joint stiffness, Precocious puberty, Visceral angiomatosis, Subcutaneous nodule, ... |
ORPHA:296 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Hepatic failure, Elevated circulating... |
OMIM:617872 |
| Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Asymptomatic hyperammonemia, Hy... |
OMIM:606762 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kinase concentration, Insulin res... |
OMIM:615980 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia... |
ORPHA:276608 |
| Infantile Myofibromatosis |
|
Neoplasm of the pancreas, Benign neoplasm of the central nervous system, Hypercalcemia, Subcutane... |
ORPHA:2591 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Large for gestational age, Abnormal cir... |
ORPHA:263455 |
| Werner Syndrome |
|
Squamous cell carcinoma, Neoplasm, Thyroid carcinoma, Sarcoma, Renal neoplasm, Increased bone min... |
ORPHA:902 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Tall stature |
OMIM:618406 |
| Beta-Thalassemia |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Hepatitis, Skin ulcer, Reduced bone mi... |
ORPHA:848 |
| Bardet-Biedl Syndrome 18 |
|
Obesity |
OMIM:615995 |
| Narcolepsy Type 1 |
|
Obesity |
ORPHA:2073 |
| Dermatofibrosarcoma Protuberans |
|
Subcutaneous nodule, Erythema, Skin ulcer, Neoplasm of the skin, Fibrosarcoma |
ORPHA:31112 |
| Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619874 |
| Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Arthralgia/arthritis, Reactive hypoglycemia, Insulin-resistant diabetes ... |
ORPHA:411593 |
| Galactokinase Deficiency |
|
Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Hypoglycemia, Smal... |
ORPHA:79237 |
| Autism, Susceptibility To, X-Linked 6 |
|
Obesity |
OMIM:300872 |
| Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... |
ORPHA:79299 |
| Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Skin ulcer, Weight loss, Rhinitis, Hyp... |
ORPHA:507 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity |
OMIM:619058 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased body weight, Glucose intolerance, Hepatic steatosis, Acne, Osteoporosis, Increased susc... |
ORPHA:189427 |
| Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Astrocytoma, Insulin resista... |
ORPHA:79086 |
| Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Splenomegaly, Jaundice, Cirrhosis, Hyp... |
ORPHA:75234 |
| Hemochromatosis, Type 2A |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, Spleno... |
OMIM:602390 |
| Cortisone Reductase Deficiency 2 |
|
Obesity |
OMIM:614662 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Decreased HDL cholesterol concentration, Dysmenorrhea, Acroosteolysis of distal phalanges (feet),... |
ORPHA:280365 |
| Prolactin Deficiency With Obesity And Enlarged Testes |
|
Obesity |
OMIM:264120 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Truncal obesity, Obesity, Large for gestational age |
OMIM:240900 |
| Insulin-Resistance Syndrome Type B |
|
Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbumin... |
ORPHA:2298 |
| Fanconi-Bickel Syndrome |
|
Osteopenia, Nephrocalcinosis, Fasting hypoglycemia, Nephropathy, Hepatomegaly, Elevated circulati... |
ORPHA:2088 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Elevated circulating C-reactive protein concentration, Squamous cell carcinoma, Prostate cancer, ... |
ORPHA:158057 |
| Mody |
|
Large for gestational age, Transient neonatal diabetes mellitus, Renal cyst, Glucose intolerance,... |
ORPHA:552 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Hypertriglyce... |
OMIM:608594 |
| Cryoglobulinemic Vasculitis |
|
Viral hepatitis, Renal insufficiency, Hepatomegaly, Proteinuria, Splenomegaly, Skin ulcer, Hematu... |
ORPHA:91138 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
| Dietary Iron Overload Disease |
|
Viral hepatitis, Hepatomegaly, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating... |
ORPHA:139507 |
| Ankylosing Vertebral Hyperostosis With Tylosis |
|
Obesity |
ORPHA:2206 |
| Free Sialic Acid Storage Disease |
|
Hepatomegaly, Proteinuria, Failure to thrive in infancy, Splenomegaly, Skin ulcer, Reduced bone m... |
ORPHA:834 |
| Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Skin ulcer, Weight loss, Hepatosplenomegaly, Erythematous plaque, Panniculitis, Erythematous papule |
ORPHA:86884 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Hypertriglyceridemia, Acne, Recurrent skin infections, Erythema nodosum, Increased ... |
OMIM:300635 |
| Papa Syndrome |
|
Increased inflammatory response, Myositis, Acne, Proteinuria, Pustule, Limitation of joint mobili... |
ORPHA:69126 |
| Combined Oxidative Phosphorylation Deficiency 16 |
|
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... |
OMIM:615395 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatic steatosis, Hepatomegaly, Umbilical hernia, Elevated hepatic transaminase, Acute pancreati... |
OMIM:269700 |
| Diarrhea 13 |
|
Elevated hepatic transaminase, Recurrent hypoglycemia, Hypoalbuminemia, Failure to thrive, Hepati... |
OMIM:620357 |
| Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Acute pancreatitis, Diabetes mellitus, Hypertriglyceride... |
ORPHA:412 |
| Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Skin ulcer, Arthritis, Ot... |
ORPHA:229717 |
| Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
| Acrogeria |
|
Aplasia/Hypoplasia of the skin, Lipoatrophy, Skin ulcer, Excessive wrinkled skin, Joint hyperflex... |
ORPHA:2500 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se... |
OMIM:617885 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated hepatic transaminase, Hepatomegaly, Hypospadias, Jaundice, Micronodular cirrhosis, Cutis... |
OMIM:301045 |
| Bardet-Biedl Syndrome 10 |
|
Obesity |
OMIM:615987 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... |
OMIM:603471 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Increased urine succinate level, Hypoglycemia, Elevated circulating aspartate amino... |
OMIM:619048 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Joint laxity, Diabetes mellitus, Dorsocervical fat pad, Osteoporosis, Primary amenorrhea, Delayed... |
OMIM:616033 |
| Congenital Disorder Of Glycosylation, Type Icc |
|
Hepatomegaly |
OMIM:301031 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:66628 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Osteopenia, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Proteinuria, Hepatocellula... |
ORPHA:369 |
| Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Obesity |
ORPHA:436141 |
| Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Decreased HDL cholesterol concentration, Adrenal calcification, Hepatic fi... |
OMIM:278000 |
| Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Obesity |
OMIM:309585 |
| Congenital Atransferrinemia |
|
Arthritis, Hypothyroidism, Abnormality of the pancreas |
ORPHA:1195 |
| Pyoderma Gangrenosum |
|
Myositis, Myelodysplasia, Pustule, Skin ulcer, Inflammation of the large intestine, Atrophic scar... |
ORPHA:48104 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Obesity, Secondary amenorrhea, ... |
ORPHA:3085 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Obesity |
OMIM:608320 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:179494 |
| Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... |
ORPHA:2457 |
| Ddost-Cdg |
|
Osteopenia, Hepatic steatosis, Elevated hepatic transaminase, Lipodystrophy, Dry skin, Primary hy... |
ORPHA:300536 |
| Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy... |
OMIM:306000 |
| Lichen Planopilaris |
|
Hypopigmented skin patches, Hepatitis, Skin ulcer, Dermal atrophy, Pterygium, Neoplasm of the ora... |
ORPHA:525 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Dysmenorrhea, Elevated circulating creatine kinase concentration, Increased sarcoplasmic glycogen... |
ORPHA:264580 |
| Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Truncal obesity |
ORPHA:140941 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... |
OMIM:616829 |
| Leptin Deficiency Or Dysfunction |
|
Decreased serum leptin, Recurrent pneumonia, Obesity, Primary amenorrhea, Hypogonadism, Micropeni... |
OMIM:614962 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase |
OMIM:618400 |
| Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Numerous nevi, Penile freckling, Hurthle cell thyroid adenoma, Multiple lipomas, Thyroid carcinom... |
ORPHA:210548 |
| Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
| Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
| Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi... |
OMIM:613027 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hypertriglyceridemia, Skin rash, Increased circulating ferritin concentration, Sple... |
OMIM:603552 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Flexion contracture, Hyperglycemia, Calcinosis, Hepatomegaly, Lipodystrophy, Insulin-... |
OMIM:248370 |
| Retinitis Pigmentosa |
|
Hypoplasia of penis, Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II ... |
ORPHA:791 |
| Acquired Partial Lipodystrophy |
|
Proteinuria, Lipoatrophy, Insulin resistance, Microscopic hematuria, Hepatic steatosis |
ORPHA:79087 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hepatic failure, Hypoglycemia, Hepatic steatosis |
OMIM:261650 |
| Temple Syndrome |
|
Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Precocious... |
OMIM:616222 |
| Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance, Hypopituitar... |
OMIM:145750 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia |
OMIM:615924 |
| Hyperkeratosis Lenticularis Perstans |
|
Aplasia/Hypoplasia of the skin, Skin ulcer, Squamous cell carcinoma, Basal cell carcinoma, Papule |
ORPHA:409 |
| Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Chronic active hepatitis, Decreased response to growth h... |
OMIM:203800 |
| Hemochromatosis, Type 3 |
|
Elevated hepatic transaminase, Purpura, Hypogonadotropic hypogonadism, Increased circulating ferr... |
OMIM:604250 |
| Syndromic X-Linked Intellectual Disability 7 |
|
Hypoplasia of penis, Cryptorchidism, Obesity, Hypogonadism, Micropenis |
ORPHA:85274 |
| Progressive Osseous Heteroplasia |
|
Macule, Hypermelanotic macule, Osteoarthritis, Limitation of joint mobility, Subcutaneous nodule,... |
ORPHA:2762 |
| Adenocarcinoma Of The Esophagus |
|
Obesity |
ORPHA:99976 |
| Niemann-Pick Disease, Type B |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increa... |
OMIM:607616 |
| Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormality of the menstrual ... |
ORPHA:905 |
| Farber Lipogranulomatosis |
|
Osteolysis involving bones of the feet, Hyperextensibility of the finger joints, Hepatomegaly, Ul... |
OMIM:228000 |
| Chilblain Lupus |
|
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Skin ulcer, Erythematous pap... |
ORPHA:90280 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Hyperinsulinemia, Generalized aminoaciduria, Renal tubular dysfunction, Failure to ... |
OMIM:606528 |
| Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection |
|
Chronic furunculosis, Pyoderma gangrenosum, Cutaneous abscess |
OMIM:619986 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Ketonuria, Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for ge... |
ORPHA:79644 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Renal insufficiency, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamyla... |
OMIM:619386 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... |
OMIM:605814 |
| Glycoprotein Storage Disease |
|
Splenomegaly, Gout |
OMIM:232900 |
| Fusariosis |
|
Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Osteomyelitis, Keratitis, Abn... |
ORPHA:228119 |
| Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... |
OMIM:619326 |
| X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Hypoplasia of penis, Eczema, Cryptorchidism, Obesity, Aplasia/Hypoplasia of the testes, Hernia of... |
ORPHA:3055 |
| Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
| Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Truncal obesity, Childhood-onset truncal obesity |
OMIM:610156 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Ethylmalonic aciduria, In... |
ORPHA:26792 |
| Atypical Werner Syndrome |
|
Sclerosis of hand bone, Fasting hyperinsulinemia, Reduced bone mineral density, Neoplasm of the b... |
ORPHA:79474 |
| Porphyria Cutanea Tarda |
|
Abnormal circulating porphyrin concentration, Scaling skin, Elevated hepatic iron concentration, ... |
ORPHA:101330 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Hepatitis, Obesity, Cholestasis, Increased LDL cholesterol concentration, A... |
ORPHA:209902 |
| Reticular Dysgenesis |
|
Skin rash, Skin ulcer, Weight loss, Chronic otitis media, Failure to thrive, Aplasia/Hypoplasia o... |
ORPHA:33355 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Myositis, Sinusitis, Skin rash, Hypertriglyceridemia... |
OMIM:617591 |
| Non-Epidermolytic Palmoplantar Keratoderma |
|
Papule, Erythema, Skin ulcer |
ORPHA:2337 |
| Prolidase Deficiency |
|
Hepatomegaly, Eczema, Elevated circulating aspartate aminotransferase concentration, Hyperimidodi... |
OMIM:170100 |
| Aplasia Cutis Congenita |
|
Aplasia cutis congenita over the scalp vertex, Skin ulcer, Abnormality of bone mineral density, C... |
ORPHA:1114 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Arthropathy, Cardiomegaly, Hepatocellular carcinoma, Stiff interphalangeal joints, Hyperglycemia,... |
ORPHA:465508 |
| Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Angiofibromas, Fasting hyperinsulinemi... |
ORPHA:276152 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent bacterial skin infections, Pneumonia, Atopic dermatitis, Skin ulcer, Squamous cell carc... |
ORPHA:217390 |
| Reynolds Syndrome |
|
Hepatomegaly, Skin rash, Jaundice, Skin ulcer, Arthritis, Keratoconjunctivitis sicca, Cirrhosis, ... |
ORPHA:779 |
| Bardet-Biedl Syndrome 5 |
|
Obesity |
OMIM:615983 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Dysmenorrhea, Ketotic hypoglyc... |
ORPHA:79240 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... |
OMIM:620211 |
| Brooke-Spiegler Syndrome |
|
Skin appendage neoplasm, Salivary gland neoplasm, Skin-colored papule, Skin nodule, Skin ulcer, B... |
ORPHA:79493 |
| Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
| Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Recurrent fractures, Abnormality of the thyroid gland, Splenomegaly, Abnormal circu... |
ORPHA:417 |
| Hernández-Aguirre Negrete Syndrome |
|
Obesity |
ORPHA:2139 |
| Aromatase Deficiency |
|
Osteopenia, Male infertility, Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic ... |
ORPHA:91 |
| Obesity-Hypoventilation Syndrome |
|
Obesity |
OMIM:257500 |
| Microduplication Xp11.22P11.23 Syndrome |
|
Obesity |
ORPHA:217377 |
| Donohue Syndrome |
|
Hypermelanotic macule, Precocious puberty, Adipose tissue loss, Long penis, Hyperinsulinemia, Cho... |
OMIM:246200 |
| Adiposis Dolorosa |
|
Obesity |
OMIM:103200 |
| Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Insulin-resis... |
OMIM:608612 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Elevated hepatic transaminase, Hepatic steatosis, Hypertriglyceridemia, Hepatosplenomegaly, Hypoa... |
OMIM:619013 |
| Proliferating Trichilemmal Cyst |
|
Epidermoid cyst, Skin ulcer |
ORPHA:492 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia, Hypoglycemia |
ORPHA:366 |
| Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Diabetes mellitus, Liver abscess, Cholangitis, Overweight, Intrahe... |
ORPHA:69663 |
| Idiopathic Copper-Associated Cirrhosis |
|
Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Increased urinar... |
ORPHA:209919 |
| Flynn-Aird Syndrome |
|
Cachexia, Joint stiffness, Abnormality of the thyroid gland, Primary adrenal insufficiency, Skin ... |
ORPHA:2047 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:619868 |
| Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... |
ORPHA:247585 |
| Chilblain Lupus 1 |
|
Chilblains, Skin ulcer |
OMIM:610448 |
| Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Perianal abscess, Hyperlipidemia, Er... |
ORPHA:444490 |
| Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Diabetes mellitus, Failure to thrive in infancy, Hepatocellular carcinoma, Hy... |
ORPHA:231226 |
| Cubitus Valgus With Impaired Intellectual Development And Unusual Facies |
|
Truncal obesity |
OMIM:300471 |
| Hyperlipoproteinemia, Type Id |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Pancreatitis, Spleno... |
OMIM:615947 |
| Atherosclerosis Susceptibility |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:108725 |
| Mpi-Cdg |
|
Hepatomegaly, Portal hypertension, Hepatic fibrosis, Hypoalbuminemia, Decreased liver function, H... |
ORPHA:79319 |
| Acquired Purpura Fulminans |
|
Macule, Erythematous macule, Skin rash, Elevated circulating C-reactive protein concentration, Py... |
ORPHA:49566 |
| Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jaundice, Biliary tract abnormal... |
ORPHA:1414 |
| Schnitzler Syndrome |
|
Macule, Hepatomegaly, Increased bone mineral density, Skin rash, Splenomegaly, Lymphoma, Arthriti... |
ORPHA:37748 |
| Squamous Cell Carcinoma Of The Anal Canal |
|
Neoplasm of the skeletal system, Skin ulcer, Neoplasm of the lung, Neoplasm of the liver, Papilloma |
ORPHA:424019 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Reactive hypoglycemia, Fasting hyperinsulinemi... |
ORPHA:35878 |
| Protoporphyria, Erythropoietic, 1 |
|
Hypertriglyceridemia, Eczema, Erythema, Cholelithiasis, Hepatic failure |
OMIM:177000 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Osteopenia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Lipodystrophy, Ele... |
OMIM:613327 |
| Felty Syndrome |
|
Episcleritis, Hepatomegaly, Pericarditis, Sinusitis, Splenomegaly, Abnormal joint morphology, Lim... |
ORPHA:47612 |
| Bardet-Biedl Syndrome 19 |
|
Renal insufficiency, Renal hypoplasia, Obesity, Hypogonadism, Hepatic steatosis, Hydronephrosis |
OMIM:615996 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine... |
OMIM:255120 |
| Osteochondrosis Of The Tarsal Bone |
|
Arthritis, Tarsal sclerosis, Tarsal stippling, Chondritis, Abnormal tarsal ossification, Osteocho... |
ORPHA:563991 |
| 3-Methylglutaconic Aciduria Type 1 |
|
Hepatomegaly, Failure to thrive, 3-Methylglutaconic aciduria, Hypoglycemia |
ORPHA:67046 |
| Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Reduced bone mineral density, Neoplasm, Hypoca... |
ORPHA:172 |
| Beta-Thalassemia Major |
|
Hypoparathyroidism, Hepatomegaly, Diabetes mellitus, Failure to thrive in infancy, Hepatocellular... |
ORPHA:231214 |
| Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Foot osteomyelitis, Acral ulceration, Skin ulcer |
ORPHA:139578 |
| Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Obesity, Hypogonadism, Recurrent... |
OMIM:615993 |
| Intellectual Developmental Disorder, X-Linked 91 |
|
Obesity |
OMIM:300577 |
| Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Eruptive xanthomas, Increased circulating chylo... |
OMIM:207750 |
| Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu... |
OMIM:616516 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Elevated hepatic transaminase, Dicarboxylic... |
ORPHA:42 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,... |
OMIM:262190 |
| Polycystic Ovary Syndrome 1 |
|
Obesity |
OMIM:184700 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Hepatic failure, Renal cyst, Proximal tubulopathy, Hypoalbuminemia, Hepatic fibrosi... |
OMIM:602579 |
| Immunodeficiency 104 |
|
Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Chronic mucocutaneous candidiasis, Otitis media, F... |
OMIM:608971 |
| Estrogen Resistance Syndrome |
|
Osteopenia, Acne, Enlarged polycystic ovaries, Delayed epiphyseal ossification, Absence of second... |
ORPHA:785 |
| Sweet Syndrome |
|
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Acne, Elevated ci... |
ORPHA:3243 |
| Chronic Granulomatous Disease |
|
Macule, Hepatomegaly, Sinusitis, Liver abscess, Eczema, Hypermelanotic macule, Splenomegaly, Skin... |
ORPHA:379 |
| Talo-Patello-Scaphoid Osteolysis |
|
Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae |
ORPHA:50809 |
| Patent Ductus Venosus |
|
Hepatic steatosis, Hypergalactosemia, Hyperammonemia, Decreased liver function |
OMIM:601466 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Urticarial plaque, Hepatomegaly, Elevated hepatic transaminase, Skin rash, Eczema, Elevated circu... |
OMIM:615688 |
| Calciphylaxis |
|
Stage 5 chronic kidney disease, Skin ulcer, Hyperphosphatemia, Secondary hyperparathyroidism, Cel... |
ORPHA:280062 |
| Laurence-Moon Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Cryptorchidism, Congenital hepatic fibrosis, Obesity, T... |
ORPHA:2377 |
| Prolidase Deficiency |
|
Hepatomegaly, Aplasia/Hypoplasia of the skin, Splenomegaly, Crusting erythematous dermatitis, Ery... |
ORPHA:742 |
| Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
| Senior-Loken Syndrome 9 |
|
Osteopenia, Stage 5 chronic kidney disease, Obesity, Cholestasis, Tubulointerstitial nephritis, H... |
OMIM:616629 |
| Graft Versus Host Disease |
|
Fasciitis, Myositis, Limited elbow movement, Gastrointestinal inflammation, Scaling skin, Acute h... |
ORPHA:39812 |
| Hereditary Spherocytosis |
|
Hepatomegaly, Maculopapular exanthema, Splenomegaly, Jaundice, Skin ulcer, Gout, Pallor, Hyperbil... |
ORPHA:822 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Hypertriglyceridemia, Splenomegaly, Bronchiectasis, Hodgkin lymphoma, Recurrent sinusitis |
OMIM:620282 |
| Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Obesity |
OMIM:619755 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia, Hepatosplenomegaly |
OMIM:608898 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity |
ORPHA:88643 |
| Majeed Syndrome |
|
Hepatomegaly, Increased bone mineral density, Inflammatory abnormality of the skin, Acne, Osteomy... |
ORPHA:77297 |
| Cushing Disease |
|
Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Increased body weight, Recurrent cutan... |
ORPHA:96253 |
| Cortisone Reductase Deficiency 1 |
|
Acne, Precocious puberty, Obesity, Infertility, Oligomenorrhea |
OMIM:604931 |
| Seckel Syndrome 10 |
|
Skin tags, Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Elevated hemoglobin... |
OMIM:617253 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Giant cell hepatitis, Hepatomegaly, Elevated hepatic transaminase, Conjugated hyperbi... |
ORPHA:79303 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam... |
ORPHA:71212 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Hypoglycemic seizures, Nephrocalcinosis, Inflammation of the large intestine, Periodo... |
ORPHA:79259 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... |
ORPHA:99889 |
| Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Hypoglycemia, Pelvic mass, Soft tissue neoplasm, Vaginal neoplasm... |
ORPHA:2126 |
| Rotor Syndrome |
|
Bilirubinuria, Conjugated hyperbilirubinemia, Jaundice, Porphyrinuria, Intermittent jaundice, Hyp... |
ORPHA:3111 |
| Bardet-Biedl Syndrome 22 |
|
Obesity, Large for gestational age |
OMIM:617119 |
| Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Increased circulating ferritin concentration, Elevat... |
OMIM:613313 |
| Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli... |
OMIM:214900 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Conjuga... |
OMIM:620010 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Osteopenia, Osteomyelitis, Skin rash, Recurrent fractures, Eczema, Craniosynostosis, Lymphoma, Sk... |
ORPHA:2314 |
| Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
| Hepatic Veno-Occlusive Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Jaundice, Increased body weight... |
ORPHA:890 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Failure to thrive in infancy, Elevated circulating alanine aminotransferase concent... |
OMIM:618805 |
| Microscopic Polyangiitis |
|
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Renal insuffic... |
ORPHA:727 |
| Limited Cutaneous Systemic Sclerosis |
|
Joint contracture of the hand, Foot joint contracture, Hypopigmented skin patches, Skin ulcer |
ORPHA:220402 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg... |
OMIM:613101 |
| Chronic Mucocutaneous Candidiasis |
|
Dyspareunia, Skin rash, Abnormal dental enamel morphology, Erythema, Cheilitis, Skin ulcer, Hepat... |
ORPHA:1334 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Inguinal hernia, Acne, Biliary tract abnormality, Obesity, Type II diabetes mellitus, Abnormal ci... |
ORPHA:3191 |
| Takayasu Arteritis |
|
Increased inflammatory response, Subcutaneous nodule, Skin ulcer, Weight loss, Arthritis, Inflamm... |
ORPHA:3287 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Obesity |
OMIM:620270 |
| Fish-Eye Disease |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:136120 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Skin rash, Maculopapular exant... |
ORPHA:540 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 1 |
|
Class III obesity |
OMIM:616418 |
| Polyarteritis Nodosa |
|
Pericarditis, Elevated circulating C-reactive protein concentration, Subcutaneous nodule, Erythem... |
ORPHA:767 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Elevated... |
OMIM:212140 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Microvesicular hepatic steatosis, Osteomyelitis leading to amputation due ... |
OMIM:256810 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Osteopenia, Elevated hepatic transaminase, Neoplasm of the pancreas, Multiple joint contractures,... |
ORPHA:2959 |
| Congenital Factor Xii Deficiency |
|
Penetrating foot ulcers |
ORPHA:330 |
| Dyskeratosis Congenita |
|
Neoplasm, Periodontitis, Skin vesicle, Macule, Hepatomegaly, Aplasia/Hypoplasia of the skin, Hype... |
ORPHA:1775 |
| Dermatoosteolysis, Kirghizian Type |
|
Aplasia/Hypoplasia of the skin, Tarsal synostosis, Keratitis, Osteoarthritis, Osteolysis, Skin ul... |
ORPHA:1657 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevat... |
OMIM:615158 |
| Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... |
ORPHA:566943 |
| Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Obesity |
OMIM:300209 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... |
OMIM:616828 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Impaired glucose tolerance, Splenomegaly, Chronic kidney disease, Obesity, Cholesta... |
OMIM:615630 |
| Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals |
|
Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis |
OMIM:609655 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Diffuse hep... |
OMIM:264470 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Ketonuria, Hypoglycemia, Low plasma citrulline, Elevated circulating alanine aminot... |
OMIM:261680 |
| Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Tendon xanthomatosis, Hypertriglyceridemia, Decreased LDL cholesterol conce... |
OMIM:603813 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia |
OMIM:609016 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Splenomegaly, Hepatomegaly, Pallor |
ORPHA:46532 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Erythematous macule, Hepatomegaly, Lymphoproliferative disorder, Elevated circulating aspartate a... |
OMIM:615559 |
| Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614582 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
| Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Pneumonia, Splenomegaly, Lymphoma, Bronchiectasis, Arthritis, Recurrent otitis medi... |
ORPHA:397596 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Osteopenia, Acute myeloid leukemia, Recurrent skin infections, Pneumonia, Myelodysplasia, Pyoderm... |
ORPHA:486 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Hepatomegaly, Large for gestational age |
ORPHA:2432 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Eunuchoid habitus, Hypoplasia of penis, Abnormality of the thyroid gland, Decreased fertility, Ob... |
ORPHA:2234 |
| Macrophage Activation Syndrome |
|
Increased inflammatory response, Hepatomegaly, Hypertriglyceridemia, Elevated circulating asparta... |
ORPHA:158061 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... |
ORPHA:247598 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss, Conjunctival hamartoma, Skin ulcer, Erythroderma |
ORPHA:312 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Failure to thrive, Osteoporosis, Macrovesicular hepatic steatosis |
OMIM:618234 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
| Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia, Obesity |
ORPHA:369873 |
| Infantile Systemic Hyalinosis |
|
Osteopenia, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joint stiffness, Subcutan... |
ORPHA:2176 |
| Galactosemia Iii |
|
Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria, Hypergalactosemia, Failure to ... |
OMIM:230350 |
| Pfapa Syndrome |
|
Hepatomegaly, Splenomegaly, Weight loss, Arthritis, Infectious encephalitis |
ORPHA:42642 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Osteoporosis, Biliary tract ... |
ORPHA:79301 |
| Congenital Macroglossia |
|
Neurofibroma, Hypothyroidism, Abnormal hepatic glycogen storage |
ORPHA:2430 |
| 11P15.4 Microduplication Syndrome |
|
Obesity |
ORPHA:300305 |
| Nephronophthisis 15 |
|
Elevated hepatic transaminase, Obesity, Nephronophthisis |
OMIM:614845 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein... |
OMIM:251880 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Impaired glucose tolerance, Pituitary adenoma, Osteoporosis, Increased circulating ACTH level, Ne... |
OMIM:219090 |
| Neuropathy, Hereditary Sensory, Type Iic |
|
Acral ulceration |
OMIM:614213 |
| Xq27.3Q28 Duplication Syndrome |
|
Cryptorchidism, Truncal obesity, Hypogonadism, Failure to thrive, Decreased testicular size |
ORPHA:261483 |
| Osteochondrosis Of The Metatarsal Bone |
|
Sclerosis of foot bone, Joint stiffness, Arthritis, Progressive joint destruction, Chondritis, Os... |
ORPHA:564003 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Joint laxity, Hypoglycemia, Small for gestational age, Elevated circulating aspartate aminotransf... |
OMIM:617093 |
| Hemochromatosis, Type 1 |
|
Arthropathy, Hepatomegaly, Elevated hepatic transaminase, Diabetes mellitus, Hypogonadotropic hyp... |
OMIM:235200 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... |
OMIM:605911 |
| 48,Xxyy Syndrome |
|
Hypoplasia of penis, Inguinal hernia, Hypergonadotropic hypogonadism, Abnormal dental enamel morp... |
ORPHA:10 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:600649 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Joint laxity, Elevated hepatic transaminase, Diabetes mellitus, Cholestasis, Hepatosplenomegaly, ... |
ORPHA:541423 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Obesity |
OMIM:613886 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Osteopenia, Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secreti... |
OMIM:610475 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Osteoporosis, Obesity, Absence ... |
OMIM:610628 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... |
OMIM:609734 |
| Papular Xanthoma |
|
Hyperlipidemia, Skin plaque, Eruptive xanthomas |
ORPHA:158008 |
| Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Conj... |
ORPHA:567983 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Hepatomegaly, Necrotizing enterocolitis, Dicarboxylic aciduria, Elevated... |
OMIM:201475 |
| Tyrosinemia Type 1 |
|
Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc... |
ORPHA:882 |
| Gracile Syndrome |
|
Increased circulating ferritin concentration, Cholestasis, Renal Fanconi syndrome, Cirrhosis, Ele... |
ORPHA:53693 |
| Autoimmune Hepatitis |
|
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp... |
ORPHA:2137 |
| Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... |
ORPHA:99886 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:228305 |
| Galactosemia I |
|
Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Elevated circulati... |
OMIM:230400 |
| Mehmo Syndrome |
|
Hypoglycemia, Decreased response to growth hormone stimulation test, Small for gestational age, O... |
OMIM:300148 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Splenomegaly, Recurrent pneumonia, Pyoderma gangrenosum, Bronchiectasis, Recurrent aphthous stoma... |
OMIM:150550 |
| Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Proteinuria, Hepatocellular carcinoma,... |
OMIM:232200 |
| Short Stature, Dauber-Argente Type |
|
Osteopenia, Increased insulin like growth factor binding protein acid labile subunit concentratio... |
OMIM:619489 |
| Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Osteomyelitis, Neuropathic arthropathy, Penetrating foot ulcers, Skin ulcer, Pathologic fracture |
ORPHA:36386 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Renal insufficiency, Skin rash, Glomerulonephritis, Microscopic hematuria, Proteinuria, Elevated ... |
ORPHA:567544 |
| Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer, Purpura |
ORPHA:743 |
| Werner Syndrome |
|
Diabetes mellitus, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated circulating aspartate ... |
OMIM:277700 |
| Aplasia Cutis-Myopia Syndrome |
|
Aplasia cutis congenita, Skin ulcer |
ORPHA:1117 |
| Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormal acetabulum morpholog... |
OMIM:618641 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Osteopenia, Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concen... |
OMIM:610489 |
| Blue Diaper Syndrome |
|
Elevated hepatic transaminase, Hypercalcemia, Elevated circulating thyroid-stimulating hormone co... |
ORPHA:94086 |
| Multicentric Reticulohistiocytosis |
|
Arthritis, Skin nodule, Cachexia |
ORPHA:139436 |
| Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Hepatic steatosis, Hypertriglyceridemia, Steatorrhea, Increased he... |
ORPHA:71 |
| Meige Disease |
|
Recurrent bacterial skin infections, Recurrent skin infections, Skin ulcer, Atypical scarring of ... |
ORPHA:90186 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Panniculitis, S... |
OMIM:618398 |
| Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Acne, Abnormality of the endocrine system, Abnormality of the thyroid gland, O... |
ORPHA:77296 |
| H Syndrome |
|
Decreased testicular size, Psoriasiform dermatitis, Diabetes mellitus, Recurrent fractures, Hyper... |
ORPHA:168569 |
| Livedoid Vasculopathy |
|
Enlargement of the ankles, Superficial dermal perivascular inflammatory infiltrate, Recurrent ski... |
ORPHA:542643 |
| Dowling-Degos Disease |
|
Hypopigmented macule, Epidermoid cyst, Hypermelanotic macule, Penile freckling, Palmar pits, Digi... |
ORPHA:79145 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, B-cell lymphoma, Splenomegaly, Lymphoma, Breast carcinoma, Weight loss |
ORPHA:86893 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Joint laxity, Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulat... |
OMIM:614727 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Obesity |
OMIM:618725 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Joint hypermobility, Failure ... |
OMIM:619418 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Minimal change glome... |
ORPHA:567548 |
| Muckle-Wells Syndrome |
|
Episcleritis, Hepatomegaly, Skin rash, Camptodactyly of finger, Splenomegaly, Uveitis, Arthritis,... |
ORPHA:575 |
| Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Ankylosis, Erythema, Osteolysis, Skin ulcer, Neoplasm of the lung, Melanoma, Neoplasm of the skin... |
ORPHA:659 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... |
OMIM:267700 |
| Autosomal Agammaglobulinemia |
|
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepatitis, Arthri... |
ORPHA:33110 |
| Familial Keratoacanthoma |
|
Subcutaneous nodule, Skin ulcer, Neoplasm, Adenoma sebaceum, Papilloma, Papule |
ORPHA:493 |
| Brachydactylous Dwarfism, Mseleni Type |
|
Osteopenia, Increased inflammatory response, Protrusio acetabuli, Limitation of joint mobility, K... |
ORPHA:2619 |
| Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
| Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hepatic st... |
OMIM:615438 |
| Immunodeficiency 48 |
|
Hepatomegaly, Pneumonia, Splenomegaly, Eczematoid dermatitis, Failure to thrive |
OMIM:269840 |
| Aicardi-Goutieres Syndrome 9 |
|
Hypoalbuminemia, Hepatic fibrosis, Micropenis, Hepatic steatosis, Hypothyroidism, Hepatomegaly, C... |
OMIM:619487 |
| Blau Syndrome |
|
Abnormality of the liver, Posterior uveitis, Nephropathy, Papule, Retrobulbar optic neuritis, Ski... |
ORPHA:90340 |
| Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Splenomegaly, Flexion contracture, Hypogonadism, Joint contracture |
OMIM:608540 |
| Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Arthritis, Nephritis |
OMIM:216950 |
| Buerger Disease |
|
Skin ulcer |
ORPHA:36258 |
| Bardet-Biedl Syndrome 4 |
|
Cryptorchidism, Hypogonadism, Obesity, Renal cyst |
OMIM:615982 |
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Ankle swelling, Joint stiffness, Iridocyclitis, Knee osteoarthritis, Flexion contracture, Oligoar... |
ORPHA:85408 |
| Adrenomyodystrophy |
|
Primary adrenal insufficiency, Megacystis, Reduced bone mineral density, Failure to thrive, Hepat... |
ORPHA:977 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Hepatic steatosis, Tall stature, Inguinal hernia, Methioninuria, Limitation of joint mobility, Os... |
OMIM:236200 |
| Macrocephaly/Autism Syndrome |
|
Joint laxity, Hepatomegaly, Penile freckling, Large for gestational age, Splenomegaly, Obesity, C... |
OMIM:605309 |
| Combined Oxidative Phosphorylation Deficiency 21 |
|
Hyperalaninemia, Hepatic steatosis, Hyperprolinemia |
OMIM:615918 |
| Eng-Strom Syndrome |
|
Arthritis, Camptodactyly of finger |
ORPHA:1937 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Omphalocele, Increased body mass index, Congenital hip dislocation, Increased T3/T4 ratio, Increa... |
OMIM:614450 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Truncal obesity, Abdominal obesity |
OMIM:618160 |
| Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated hepatic transaminase, Renal insufficiency, Elevated circulating C-reactive... |
ORPHA:247353 |
| Mehmo Syndrome |
|
Hypoplasia of penis, Diabetes mellitus, Cryptorchidism, Obesity, Micropenis |
ORPHA:85282 |
| Estrogen Resistance |
|
Osteopenia, Increased circulating osteocalcin level, Acne, Impaired glucose tolerance, Hyperinsul... |
OMIM:615363 |
| Glycogen Storage Disease Iii |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... |
OMIM:232400 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Failure to thrive in infancy, Obesity |
OMIM:613670 |
| Biemond Syndrome Type 2 |
|
Hypogonadotropic hypogonadism, Hypospadias, Obesity, Hypogonadism, Delayed puberty |
ORPHA:141333 |
| Diffuse Cutaneous Systemic Sclerosis |
|
Dyspareunia, Renal insufficiency, Flexion contracture, Osteolysis, Skin ulcer, Oliguria, Arthritis |
ORPHA:220393 |
| Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Proteinuria, Pancreatic fibrosis, Hepa... |
OMIM:232220 |
| Abdominal Obesity-Metabolic Syndrome 4 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ... |
OMIM:618620 |
| Glycogen Storage Disease Ixb |
|
Hepatomegaly, Hypoglycemia, Splenomegaly, Increased muscle glycogen content, Hyperuricemia, Incre... |
OMIM:261750 |
| Melorheostosis |
|
Increased bone mineral density, Joint stiffness, Atypical scarring of skin, Arthritis, Ectopic os... |
ORPHA:2485 |
| Reni Syndrome |
|
Diffuse mesangial sclerosis, Hypertriglyceridemia, Hypoglycemia, Proteinuria, Cryptorchidism, Sta... |
OMIM:617575 |
| Alpha-Mannosidosis |
|
Hepatomegaly, Inguinal hernia, Splenomegaly, Arthritis, Type II diabetes mellitus, Chronic otitis... |
ORPHA:61 |
| Bare Lymphocyte Syndrome, Type I |
|
Chronic otitis media, Chronic sinusitis, Bronchiectasis, Skin ulcer |
OMIM:604571 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Osteopenia, Adrenal hyperplasia, Decreased circulating ACTH concentration, Osteoporosis, Truncal ... |
OMIM:219080 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Obesit... |
ORPHA:98907 |
| Mucopolysaccharidosis, Type Ix |
|
Acetabular erosions, Periarticular soft-tissue mass, Synovitis, Hyperextensibility at wrists, Rec... |
OMIM:601492 |
| Bardet-Biedl Syndrome 8 |
|
Obesity |
OMIM:615985 |
| Lysosomal Acid Lipase Deficiency |
|
Adrenal calcification, Renal salt wasting, Microvesicular hepatic steatosis, Xanthomatosis, Hepat... |
ORPHA:275761 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Sple... |
OMIM:615234 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Maturity-onset diabetes of the young, Precocious puberty, Obesity, Recurrent otitis media, Hyperc... |
ORPHA:254531 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Proteinuria |
OMIM:245900 |
| Galactose Epimerase Deficiency |
|
Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Aminoaciduria |
ORPHA:79238 |
| Pseudopseudohypoparathyroidism |
|
Osteoma cutis, Abnormality of the endocrine system, Obesity, Elevated circulating parathyroid hor... |
ORPHA:79445 |
| Bardet-Biedl Syndrome 7 |
|
Obesity |
OMIM:615984 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ... |
OMIM:614300 |
| Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Very long c... |
ORPHA:98908 |
| Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Hypogl... |
OMIM:614921 |
| Neutrophilic Dermatosis, Acute Febrile |
|
Elevated circulating C-reactive protein concentration, Erythema, Pyoderma gangrenosum, Panniculit... |
OMIM:608068 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Joint st... |
ORPHA:98855 |
| Hepatitis, Fulminant Viral, Susceptibility To |
|
Elevated hepatic transaminase, Hepatomegaly, Fulminant hepatitis, Jaundice, Type I diabetes melli... |
OMIM:618549 |
| Galactose Mutarotase Deficiency |
|
Hepatomegaly, Cholestasis, Hypergalactosemia, Decreased liver function, Failure to thrive |
ORPHA:570422 |
| Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Skin rash, Elevated circulating C-reac... |
ORPHA:829 |
| Adult Polyglucosan Body Disease |
|
Neurogenic bladder, Urinary incontinence, Limitation of joint mobility, Skin ulcer, Urinary bladd... |
ORPHA:206583 |
| Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... |
OMIM:600955 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Elevated circulating C-reactive protein concentration, C... |
OMIM:256040 |
| Hyperlipoproteinemia, Type I |
|
Splenomegaly, Hyperlipidemia, Eruptive xanthomas, Jaundice, Hepatosplenomegaly, Lactescent serum,... |
OMIM:238600 |
| Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Osteoporosis, Obesity,... |
OMIM:615300 |
| Giant Cell Arteritis |
|
Pericarditis, Renal insufficiency, Joint stiffness, Skin ulcer, Weight loss, Hematuria, Arthritis... |
ORPHA:397 |
| Blau Syndrome |
|
Nongranulomatous uveitis, Pericarditis, Eczema, Camptodactyly of finger, Erythema nodosum, Interm... |
OMIM:186580 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Periodon... |
ORPHA:534 |
| Ring Chromosome Y Syndrome |
|
Male infertility, Streak ovary, Unilateral cryptorchidism, Hypospadias, Female infertility, Crypt... |
ORPHA:261529 |
| Coenzyme Q10 Deficiency, Primary, 2 |
|
Overweight, Obesity |
OMIM:614651 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Abnormality of the ureter, Obesity, Genu valgum, Joint hyperflexibility, Umbilical hernia, Dry skin |
ORPHA:1035 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Obesity, Azoospermia, Cubitus valgus, Abnormality of the hypothal... |
ORPHA:2183 |
| Laron Syndrome |
|
Hypoplasia of penis, Hypoglycemia, Abnormality of the endocrine system, Osteoarthritis, Abnormali... |
ORPHA:633 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase co... |
ORPHA:228308 |
| Temple Syndrome |
|
Few cafe-au-lait spots, Small for gestational age, Decreased response to growth hormone stimulati... |
ORPHA:254516 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated hepatic transaminase, Hepatic steatosis, Multicystic kidney dysplasia, Diabetes mellitus... |
ORPHA:93111 |
| Wilson Disease |
|
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Aminoac... |
OMIM:277900 |
| Gaisböck Syndrome |
|
Diabetes mellitus, Hypertriglyceridemia, Overweight, Splenomegaly, Obesity, Gout, Nephrocalcinosi... |
ORPHA:90041 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,... |
OMIM:607765 |
| Trisomy 5P |
|
Obesity |
ORPHA:1742 |
| Eosinophilic Fasciitis |
|
Macule, Fasciitis, Myositis, Subcutaneous nodule, Weight loss, Arthritis, Cellulitis |
ORPHA:3165 |
| Pseudohypoparathyroidism, Type Ic |
|
Elevated circulating thyroid-stimulating hormone concentration, Osteoporosis, Pseudohypoparathyro... |
OMIM:612462 |
| Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Obesity |
ORPHA:276630 |
| Chromosome Xq21 Deletion Syndrome |
|
Obesity |
OMIM:303110 |
| Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Osteopenia, Symmetric polyarthritis, Elevated circulating C-reactive protein concentration, Limit... |
ORPHA:85435 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Increased... |
OMIM:608836 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Atrophic gastritis, Recurrent skin infections, Recurrent pneumonia, Pyoderma gangrenosum, Bronchi... |
OMIM:616576 |
| Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
| Isolated Polycystic Liver Disease |
|
Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas, Multiple renal cysts, Increa... |
ORPHA:2924 |
| Nodular Non-Suppurative Panniculitis |
|
Hepatomegaly, Aplasia/Hypoplasia of the skin, Splenomegaly, Subcutaneous nodule, Erythema, Weight... |
ORPHA:33577 |
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperglycinuria, Medium chain dicarbox... |
OMIM:201450 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... |
OMIM:615812 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypoproteinemia, Hepatomegaly, Hypertriglyceridemia, Skin rash, Elevated hepatic tr... |
OMIM:603553 |
| 11Q22.2Q22.3 Microdeletion Syndrome |
|
Hemangioma, Obesity, Papule |
ORPHA:444002 |
| Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Abnormal testis morphology, Hypogonadism, Decreased fertility, Obesity |
ORPHA:2233 |
| Joubert Syndrome 37 |
|
Hepatomegaly, Prominent metopic ridge, Cryptorchidism, Obesity, Hydronephrosis, Micropenis, Decre... |
OMIM:619185 |
| Immunodeficiency 61 |
|
Recurrent otitis media, Arthritis, Obesity, Recurrent sinusitis |
OMIM:300310 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iib |
|
Urinary incontinence, Osteomyelitis, Acral ulceration, Osteolytic defects of the phalanges of the... |
OMIM:613115 |
| Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
|
Arthropathy, Generalized morning stiffness, Arthritis, Congenital finger flexion contractures, Co... |
OMIM:208250 |
| Lysinuric Protein Intolerance |
|
Osteopenia, Decreased HDL cholesterol concentration, Decreased response to growth hormone stimula... |
ORPHA:470 |
| Simple Cryoglobulinemia |
|
Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Renal insufficiency, Pro... |
ORPHA:91139 |
| Pseudohypoparathyroidism, Type Ib |
|
Pseudohypoparathyroidism, Obesity, Elevated circulating parathyroid hormone level, Hyperphosphate... |
OMIM:603233 |
| Bloom Syndrome |
|
Small for gestational age, Elevated hemoglobin A1c, Decreased fertility in females, Cryptorchidis... |
OMIM:210900 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Joint st... |
ORPHA:98863 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Hepatic steatosis, Pericarditis, Premature ovarian insufficiency, Hypergonadotropic h... |
OMIM:212065 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami... |
OMIM:615558 |
| Osteoarthritis Susceptibility 3 |
|
Osteoarthritis, Osteoarthritis of the distal interphalangeal joint, Osteoarthritis of the first c... |
OMIM:607850 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... |
OMIM:616278 |
| Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Joint st... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Joint st... |
ORPHA:98853 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Obesity |
OMIM:616756 |
| 19P13.12 Microdeletion Syndrome |
|
Hepatic steatosis, Hypospadias, Craniosynostosis, Precocious puberty, Cryptorchidism, Hyperlipide... |
ORPHA:254346 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis |
OMIM:615119 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Cryptorchidism, Micropenis, Obesity, Delayed puberty |
OMIM:301900 |
| Chondrocalcinosis 2 |
|
Arthropathy, Polyarticular chondrocalcinosis, Osteoarthritis |
OMIM:118600 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the 2nd finger, De... |
OMIM:130060 |
| Classic Galactosemia |
|
Male infertility, Hepatomegaly, Decreased serum insulin-like growth factor 1, Premature ovarian i... |
ORPHA:79239 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Proteinuria, Nephrogenic diabe... |
OMIM:613404 |
| Liver Failure, Infantile, Transient |
|
3-hydroxydicarboxylic aciduria, Acute hepatic failure, Hepatomegaly, Dicarboxylic aciduria, Eleva... |
OMIM:613070 |
| Mitochondrial Myopathy, Infantile, Transient |
|
Increased serum pyruvate, Hepatomegaly, Elevated circulating creatine kinase concentration, Incre... |
OMIM:500009 |
| Hajdu-Cheney Syndrome |
|
Osteopenia, Hepatomegaly, Failure to thrive, Inguinal hernia, Hypospadias, Recurrent fractures, S... |
ORPHA:955 |
| Dermatomyositis |
|
Pericarditis, Aplasia/Hypoplasia of the skin, Gastrointestinal stroma tumor, Myocarditis, Erythem... |
ORPHA:221 |
| Combined Oxidative Phosphorylation Deficiency 53 |
|
Hepatomegaly, Osteomyelitis, Elevated circulating C-reactive protein concentration, Arthritis, Se... |
OMIM:619423 |
| Immunodeficiency 47 |
|
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Decreased circulating copper conce... |
OMIM:300972 |
| Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Obesity |
ORPHA:521390 |
| Carney Complex |
|
Atypical nevi in non-sun exposed areas, Hepatocellular carcinoma, Increased body weight, Thyroid ... |
ORPHA:1359 |
| Morm Syndrome |
|
Truncal obesity |
ORPHA:75858 |
| Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Arthropathy, Osteomyelitis, Recurrent fractures, Urinary incontinence, Osteoarthritis, Painless f... |
OMIM:608654 |
| Granulomatosis With Polyangiitis |
|
Sinusitis, Elevated circulating C-reactive protein concentration, Otitis media, Chronic otitis me... |
ORPHA:900 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Recurrent ... |
ORPHA:2235 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Osteopenia, Joint dislocation, Widened atrophic scar, Redundant skin, Knee dislocation, Shoulder ... |
ORPHA:536532 |
| Bardet-Biedl Syndrome 21 |
|
Overweight, Obesity, Horseshoe kidney, Elevated hepatic transaminase |
OMIM:617406 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Increased urinary glycerol, Hypoglycemia, Pallor, Fa... |
ORPHA:348 |
| Dysspondyloenchondromatosis |
|
Joint dislocation, Enlarged joints, Osteoarthritis, Generalized joint laxity, Genu valgum, Multip... |
ORPHA:85198 |
| Malakoplakia |
|
Inflammatory abnormality of the skin, Skin rash, Dysuria, Proteinuria, Abnormality of the menstru... |
ORPHA:556 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Hypouricemia, ... |
OMIM:616026 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Osteoporosis, Increas... |
OMIM:615954 |
| Immunodeficiency 42 |
|
Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu... |
OMIM:616622 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Increased circulating... |
OMIM:616860 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Osteopenia, Decreased HDL cholesterol concentration, Decreased serum insulin-like growth factor 1... |
ORPHA:77293 |
| Dpm1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:79322 |
| Mu-Heavy Chain Disease |
|
Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Osteoporosis, Osteolysis, Weight loss, Nephr... |
ORPHA:100024 |
| Familial Multiple Nevi Flammei |
|
Nevus flammeus, Skin ulcer, Hypermelanotic macule, Papule |
ORPHA:624 |
| Bardet-Biedl Syndrome 2 |
|
Diabetes mellitus, Hypogonadism, Obesity |
OMIM:615981 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidi... |
ORPHA:96184 |
| Primary Sjögren Syndrome |
|
Myositis, Chronic active hepatitis, Tubulointerstitial nephritis, Biliary cirrhosis, Skin ulcer, ... |
ORPHA:289390 |
| Epiphyseal Dysplasia, Multiple, 3 |
|
Elevated circulating creatine kinase concentration, Delayed epiphyseal ossification, Osteoarthrit... |
OMIM:600969 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Tendon xanthomatosis, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolem... |
ORPHA:79506 |
| Retinal Dystrophy And Obesity |
|
Obesity |
OMIM:616188 |
| Juvenile Dermatomyositis |
|
Calcinosis, Myositis, Pericarditis, Skin rash, Elevated circulating creatine kinase concentration... |
ORPHA:93672 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Epiphyseal stippling, Decreased liver function, Renal cyst, Hepatomegaly |
OMIM:614870 |
| 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Dicarboxylic aciduria, Hypoglycemic seizures, Hepatic necrosis, Myoglo... |
OMIM:231530 |
| Glycogen Storage Disease Ic |
|
Hepatomegaly, Renal insufficiency, Hypoglycemia, Proteinuria, Hepatoblastoma, Chronic pancreatiti... |
OMIM:232240 |
| Aredyld Syndrome |
|
Hepatomegaly, Lipoatrophy, Abnormal dental enamel morphology, Cachexia, Splenomegaly, Abnormality... |
ORPHA:1133 |
| Summitt Syndrome |
|
Prominent metopic ridge, Camptodactyly of finger, Craniosynostosis, Obesity, Genu valgum, Tall st... |
ORPHA:3210 |
| Systemic Sclerosis |
|
Elevated circulating creatine kinase concentration, Flexion contracture, Acral ulceration, Barret... |
ORPHA:90291 |
| Amyloidosis, Familial Visceral |
|
Hepatomegaly, Skin rash, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, N... |
OMIM:105200 |
| Rafiq Syndrome |
|
Joint laxity, Flexion contracture, Obesity, Cutis laxa, Truncal obesity, Joint hypermobility |
OMIM:614202 |
| Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
| X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Chronic otitis media, Lipoma, Obesity, Joint hypermobility |
ORPHA:480907 |
| 3-Methylglutaconic Aciduria, Type V |
|
Hypospadias, Elevated circulating aspartate aminotransferase concentration, Cryptorchidism, Micro... |
OMIM:610198 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Hip contracture, Inguinal hernia, Advanced ossification of carpal bones, Obesity, Genu valgum, Kn... |
OMIM:618363 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypertriglyceridemia, Lipoatrophy, Pulmonary carcinoid tumor, Abnormal intrahepatic bile duct mor... |
ORPHA:363618 |
| Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... |
ORPHA:1227 |
| Bardet-Biedl Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Obesity, Nephrotic syndrome, H... |
ORPHA:110 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Hypoglycemia, Elevated circul... |
OMIM:212138 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortica... |
OMIM:231680 |
| Smith-Magenis Syndrome |
|
Abnormality of the thyroid gland, Hypercholesterolemia, Hypertriglyceridemia, Increased body weight |
OMIM:182290 |
| Familial Calcium Pyrophosphate Deposition |
|
Joint dislocation, Osteoarthritis, Limitation of joint mobility, Arthritis, Joint swelling, Chond... |
ORPHA:1416 |
| Pseudohypoparathyroidism, Type Ia |
|
Osteoporosis, Pseudohypoparathyroidism, Obesity, Subcutaneous ossification, Elevated circulating ... |
OMIM:103580 |
| Urban-Rogers-Meyer Syndrome |
|
Hypoplasia of penis, Camptodactyly of finger, Recurrent fractures, Cryptorchidism, Osteoporosis, ... |
ORPHA:3409 |
| Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Small for gestational age, Cryptorchidism, Increased circulating gonadotropin level, Abdominal ob... |
OMIM:300869 |
| Cervical Hypertrichosis-Peripheral Neuropathy Syndrome |
|
Osteomyelitis, Skin ulcer |
ORPHA:2218 |
| Interstitial Lung And Liver Disease |
|
Hepatic steatosis, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, E... |
OMIM:615486 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Ectopic kidney, Gastrointestinal inflammation, Reduced bone mineral density, Glucose ... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Osteopenia, Ectopic kidney, Gastrointestinal inflammation, Reduced bone mineral density, Glucose ... |
ORPHA:99228 |
| Monosomy X |
|
Osteopenia, Ectopic kidney, Gastrointestinal inflammation, Reduced bone mineral density, Glucose ... |
ORPHA:99226 |
| Turner Syndrome |
|
Osteopenia, Ectopic kidney, Gastrointestinal inflammation, Reduced bone mineral density, Glucose ... |
ORPHA:881 |
| Ehlers-Danlos Syndrome, Hypermobility Type |
|
Joint dislocation, Joint laxity, Striae distensae, Osteoarthritis, Joint hypermobility |
OMIM:130020 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... |
OMIM:615595 |
| Mulibrey Nanism |
|
Hepatomegaly, Cachexia |
ORPHA:2576 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Obesity |
OMIM:300238 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... |
OMIM:613812 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Hepatomegaly, Increased muscle lipid content, Increased muscle glycogen content, Abnormality of t... |
ORPHA:254864 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Failure to thrive, Hepatic steatosis, Decreased liver function |
ORPHA:70472 |
| Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Redundant skin, Neonatal hypoglycemia, Large for gestational age, Cardiomeg... |
ORPHA:116 |
| Hereditary Acrokeratotic Poikiloderma |
|
Camptodactyly of finger, Eczema, Abnormal preputium morphology, Pustule, Abnormality of the ureth... |
ORPHA:2907 |
| Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies |
|
Obesity |
OMIM:606772 |
| Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Refractory anemia with ringed sideroblasts, L... |
OMIM:133180 |
| Chung-Jansen Syndrome |
|
Cryptorchidism, Cafe-au-lait spot, Obesity, Joint hypermobility |
OMIM:617991 |
| Familial Cold Autoinflammatory Syndrome 2 |
|
Skin rash, Elevated circulating C-reactive protein concentration, Erythema nodosum, Splenomegaly,... |
OMIM:611762 |
| Kienbock Disease |
|
Osteoarthritis, Limitation of joint mobility, Osteochondritis dissecans, Abnormality of the wrist |
ORPHA:97332 |
| Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Increased circulating free T4 concentration, Diabetes mellitus, Small for gestational age, Elevat... |
OMIM:274300 |
| Acrodermatitis Enteropathica |
|
Failure to thrive, Pustule, Erythema, Cheilitis, Skin ulcer, Weight loss, Conjunctivitis, Dry ski... |
ORPHA:37 |
| X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome |
|
Cubitus valgus, Truncal obesity, Melanocytic nevus |
ORPHA:85280 |
| Wiskott-Aldrich Syndrome |
|
Sinusitis, Eczema, Abnormality of the menstrual cycle, Keratitis, Lymphoma, Chronic leukemia, Ski... |
ORPHA:906 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619662 |
| Pgm3-Cdg |
|
Membranoproliferative glomerulonephritis, Osteomyelitis, Eczema, Allergic rhinitis, Recurrent ski... |
ORPHA:443811 |
| Developmental Dysplasia Of The Hip 2 |
|
Hip osteoarthritis, Arthritis |
OMIM:615612 |
| Bile Acid Conjugation Defect 1 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:619232 |
| Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Eruptive xanthomas, Increased HDL cholesterol concentration, Hypertriglycer... |
OMIM:614025 |
| Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Failure to thrive in infancy, Joint stiffness, Precocious puberty, Abnormal... |
ORPHA:819 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Inflammatory abnormality of the skin, Small for gest... |
ORPHA:26793 |
| Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Delayed puberty, Joint contract... |
OMIM:615704 |
| Baralle-Macken Syndrome |
|
Cafe-au-lait spot, Urinary incontinence, Striae distensae, Obesity |
OMIM:619255 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Cac... |
ORPHA:298 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Failure to thr... |
OMIM:606721 |
| Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Reduced subcutaneous adipose tissue, Enlarged ovaries, Impaired glucose ... |
ORPHA:769 |
| Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Hypoalbuminem... |
ORPHA:36234 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Nonketotic hypoglycemia, Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic acidu... |
ORPHA:99901 |
| Propionic Acidemia |
|
Hepatomegaly, Organic aciduria, Hypoglycemia, Hyperammonemia |
ORPHA:35 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Psoriasiform lesion, Pneumonia, Lymphoproliferative disorder, Erythema nodosu... |
OMIM:614700 |
| Retinitis Pigmentosa 59 |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Cryptorchidism, Micropenis, Fai... |
OMIM:613861 |
| Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Eczema, Abnormality of the endocrine system, Cryptorchidism, Pseudohypoparathyroidism, Patellar h... |
ORPHA:464288 |
| C1Q Deficiency 2 |
|
Chilblains, Elevated circulating C-reactive protein concentration, Discoid lupus rash, Bronchiect... |
OMIM:620321 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Hyperinsulinemia |
ORPHA:66518 |
| Immunoglobulin A Vasculitis |
|
Episcleritis, Macule, Renal insufficiency, Skin rash, Proteinuria, Orchitis, Pustule, Erythema, S... |
ORPHA:761 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Esophageal neoplasm, Hepatomegaly, Ascites, Weight loss |
ORPHA:2198 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Increased urine alpha-ketoglutarate concentration, Hepatomegaly, Elevated hepatic transaminase, H... |
ORPHA:2394 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Hepatomegaly, Peritonitis, Limitation of joint mobility, Erythema, Arthritis, Recurrent aphthous ... |
ORPHA:343 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatic steatosis, Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Achilles tendon contract... |
OMIM:616263 |
| Vipoma |
|
Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Neoplasm of the liver, Increas... |
ORPHA:97282 |
| Toxic Epidermal Necrolysis |
|
Macule, Acute hepatic failure, Renal insufficiency, Elevated hepatic transaminase, Dysuria, Abnor... |
ORPHA:537 |
| Osteootohepatoenteric Syndrome |
|
Proteinuria, Recurrent fractures, Microvesicular hepatic steatosis, Grade II vesicoureteral reflu... |
OMIM:619377 |
| 48,Xxxy Syndrome |
|
Hypoplasia of penis, Inguinal hernia, Abnormal dental enamel morphology, Elbow dislocation, Crypt... |
ORPHA:96263 |
| Leprechaunism |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Insulin resistance, Long pen... |
ORPHA:508 |
| Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Splenomegaly, Recurrent pneumonia, Lymphoma, Bronchiectasis, Neoplasm, Conjunctivit... |
OMIM:240500 |
| Liver Disease, Severe Congenital |
|
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Aminoaciduria, Hypocalcemia, Elevated hepat... |
OMIM:619991 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Ele... |
ORPHA:100085 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Hypospadias, Craniosynostosis, Cryptorchidism, Renal hypoplasia, Obesity, Radioulnar synostosis, ... |
ORPHA:171839 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Ic |
|
Osteomyelitis, Skin ulcer |
OMIM:613640 |
| Sheehan Syndrome |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... |
ORPHA:91355 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Elevated circulating creatine kinase concentration, Osteolysis, Increased susceptibility to fract... |
ORPHA:52430 |
| X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... |
ORPHA:300373 |
| Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Macroscopic hematuria, Nephroti... |
OMIM:613496 |
| 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hyperammonemia, Ketonuria, Hypoglycemia, Acute hepatic steatosis, Elevated urinary 3-methyl... |
OMIM:210200 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbiliru... |
OMIM:211600 |
| Cimdag Syndrome |
|
Hepatomegaly, Lipodystrophy, Microvesicular hepatic steatosis, Hypogonadism, Cholelithiasis |
OMIM:619273 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Elevated hepatic transaminase, Hypoglycemia, 4-hydroxyphenylacetic aciduria, Co... |
OMIM:617156 |
| Hypocomplementemic Urticarial Vasculitis |
|
Joint dislocation, Episcleritis, Renal insufficiency, Hepatomegaly, Skin rash, Proteinuria, Splen... |
ORPHA:36412 |
| Microtriplication 11Q24.1 |
|
Joint dislocation, Hyperlipidemia, Limitation of joint mobility, Obesity, Genu valgum |
ORPHA:289522 |
| Monosomy 13Q34 |
|
Metrorrhagia, Hypercalcemia, Insulin resistance, Obesity, Osteochondrosis, Hepatic steatosis |
ORPHA:96168 |
| Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
| Multiple Epiphyseal Dysplasia Type 1 |
|
Abnormal acetabulum morphology, Joint stiffness, Delayed epiphyseal ossification, Osteoarthritis,... |
ORPHA:93308 |
| Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... |
OMIM:616217 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Arthritis, Conjunctivitis, Otitis media, Failure to thrive secondar... |
OMIM:601457 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Hypergonadotropic hypogonadism, Retrobulbar optic neuritis, Obesity, Primary amenorrhea, Hypergly... |
OMIM:619737 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Osteopenia, Hepatomegaly, Skin rash, Allergic rhinitis, Splenomegaly, Jaundice, Steatorrhea, Fail... |
OMIM:612714 |
| Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Cryptorchidism, Flexion contracture, Obesity, Hypogonadism, Camptod... |
OMIM:615547 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Arthropathy, Omphalocele, Premature thelarche, Sclerotic cranial sutures, Localized s... |
ORPHA:371428 |
| Angel-Shaped Phalangoepiphyseal Dysplasia |
|
Hip osteoarthritis, Hyperextensibility of the finger joints, Premature osteoarthritis, Delayed os... |
OMIM:105835 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Failure to thrive, Elevated circulating C-reactive protein concentration, Splenomeg... |
OMIM:617388 |
| Chondrocalcinosis 1 |
|
Osteoarthritis, Chondrocalcinosis |
OMIM:600668 |
| Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Lymphoma, Hypocalcemia, Ascites |
ORPHA:100025 |
| Pseudoachondroplasia |
|
Joint laxity, Limited hip extension, Joint stiffness, Distal joint laxity, Delayed epiphyseal oss... |
ORPHA:750 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po... |
OMIM:602347 |
| Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Recurrent pneumonia,... |
OMIM:616433 |
| Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Reduced subcutaneous adipose tissue, Hyperextensibility of the finger joints, Patellar hypoplasia... |
ORPHA:3041 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Hepatomegaly, Renal insufficiency, Failure to thrive, Hyperammonemia |
ORPHA:28 |
| Leptin Receptor Deficiency |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
OMIM:614963 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Elevated hepatic transaminase, Ketonuria, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postp... |
ORPHA:2089 |
| Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Eruptive xanthomas, Increased HDL cholesterol concentration, Hypertriglyceridemia |
ORPHA:140905 |
| Whipple Disease |
|
Hyponatremia, Hepatomegaly, Myositis, Pericarditis, Cachexia, Myocarditis, Hypothyroidism, Insuli... |
ORPHA:3452 |
| Prader-Willi Syndrome |
|
Osteopenia, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test,... |
OMIM:176270 |
| Woodhouse-Sakati Syndrome |
|
Osteopenia, Streak ovary, Premature ovarian insufficiency, Decreased response to growth hormone s... |
ORPHA:3464 |
| Adiposis Dolorosa |
|
Recurrent skin infections, Subcutaneous nodule, Obesity, Arthritis, Dry skin, Hypothyroidism |
ORPHA:36397 |
| Bloom Syndrome |
|
Adipose tissue loss, Uveitis, Neoplasm, Neoplasm of the breast, Otitis media, Male infertility, P... |
ORPHA:125 |
| Carpenter Syndrome |
|
Craniosynostosis, Cryptorchidism, Obesity, Genu valgum, Polysplenia, Umbilical hernia |
ORPHA:65759 |
| Hyperbilirubinemia, Shunt, Primary |
|
Splenomegaly, Hepatomegaly, Jaundice, Hyperbilirubinemia |
OMIM:237800 |
| Bardet-Biedl Syndrome 3 |
|
Obesity |
OMIM:600151 |
| Alpha-1-Antitrypsin Deficiency |
|
Hepatomegaly, Jaundice, Hepatitis, Nephrotic syndrome, Hepatic failure |
ORPHA:60 |
| Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Goiter, Overweight, Elevated circulating thyroid-sti... |
ORPHA:99832 |
| Carpenter Syndrome 1 |
|
Preauricular pit, Omphalocele, Sacral dimple, Hydroureter, Sagittal craniosynostosis, Lateral dis... |
OMIM:201000 |
| Cornelia De Lange Syndrome 5 |
|
Cryptorchidism, Truncal obesity, Hypogonadism, Nevus, Micropenis, Limited elbow extension, Decrea... |
OMIM:300882 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Splenomegaly, Hepatomegaly, Myeloproliferative disorder |
OMIM:607685 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi... |
OMIM:619463 |
| Chromosome 16P13.3 Deletion Syndrome, Proximal |
|
Nevus sebaceous, Obesity, Polysplenia, Failure to thrive, Facial hemangioma |
OMIM:610543 |
| Hemoglobin H Disease |
|
Splenomegaly, Hepatomegaly |
OMIM:613978 |
| Mast Cell Sarcoma |
|
Splenomegaly, Hepatomegaly, Sarcoma, Weight loss |
ORPHA:66661 |
| Overlap Myositis |
|
Elevated hepatic transaminase, Subluxation of the small joints of the hand, Diabetes mellitus, El... |
ORPHA:206572 |
| Bullous Impetigo |
|
Pustule, Recurrent bacterial skin infections, Erythema, Septic arthritis |
ORPHA:36237 |
| Periodic Fever, Familial, Autosomal Dominant |
|
Hepatomegaly, Myositis, Skin rash, Maculopapular exanthema, Oligoarthritis, Polyarticular arthrit... |
OMIM:142680 |
| Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Myositis, Splenomegaly, Flexion contracture, Erythema, Generalized lipodystrophy, P... |
OMIM:619183 |
| Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Arthritis, Failure to thrive, Small for gestational age |
OMIM:613217 |
| Immunodeficiency 97 With Autoinflammation |
|
Hypertriglyceridemia, Recurrent skin infections, Eczema, Increased circulating ferritin concentra... |
OMIM:619802 |
| Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Skin ulcer, Interstitial pneumonitis, Dermal atrophy, Scali... |
ORPHA:454831 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteopenia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Proteinuria, Eleva... |
OMIM:619127 |
| Sydenham Chorea |
|
Septic arthritis, Erythema, Endocarditis |
ORPHA:306731 |
| Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Dark yellow urine, Conjug... |
ORPHA:30391 |
| Laurence-Moon Syndrome |
|
Obesity |
OMIM:245800 |
| Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Splenomegaly, Hepatomegaly, Fetal ascites |
OMIM:619462 |
| Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Testicular neop... |
ORPHA:83469 |
| Fanconi-Bickel Syndrome |
|
Fasting hypoglycemia, Hepatomegaly, Ketonuria, Hypouricemia, Osteomalacia, Elevated circulating a... |
OMIM:227810 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Failure to thrive, Perianal erythema, Splenomegaly, Decreased serum zinc, Hypogonad... |
OMIM:201100 |
| Cinca Syndrome |
|
Skin rash, Elevated circulating C-reactive protein concentration, Patellar overgrowth, Uveitis, H... |
OMIM:607115 |
| Glycogen Storage Disease Vii |
|
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria, Jaundice, Gou... |
OMIM:232800 |
| Hypothyroidism, Central, With Testicular Enlargement |
|
Overweight |
OMIM:300888 |
| Brucellosis |
|
Liver abscess, Elevated circulating C-reactive protein concentration, Knee osteoarthritis, Abnorm... |
ORPHA:1304 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Cryptorchidism, Elevated circulating creatinine concentration, Cholestasis, Ascites... |
OMIM:608104 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Obesity |
OMIM:616521 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Splenomegaly, Intermittent... |
OMIM:601847 |
| D-Bifunctional Protein Deficiency |
|
Osteopenia, Hepatomegaly, Elevated hepatic transaminase, Very long chain fatty acid accumulation,... |
OMIM:261515 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Joint laxity, Hypospadias, Cryptorchidism, Abdominal obesity, Hypogonadism, Delayed puberty, Micr... |
OMIM:300354 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Osteopenia, Adrenal hyperplasia, Diabetes mellitus, Acne, Dorsocervical fat pad, Osteoporosis, In... |
OMIM:615830 |
| B4Galt1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Inflammatory abnormality of the skin, Redundant neck... |
ORPHA:79332 |
| Classic Hodgkin Lymphoma |
|
Hepatomegaly, Skin rash, Splenomegaly, Lymphoma, Osteolysis, Weight loss, Neoplasm |
ORPHA:391 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Hepatomegaly |
OMIM:606445 |
| Pseudopseudohypoparathyroidism |
|
Enamel hypoplasia, Osteoporosis, Pseudohypoparathyroidism, Obesity |
OMIM:612463 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Glomerulonephritis, Eczema, Hepatitis, Arthritis, Erythroderma, Type I diabetes mellitus, Failure... |
OMIM:304790 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating creatine kinase concentration, ... |
ORPHA:369840 |
| 15Q24 Microdeletion Syndrome |
|
Joint laxity, Hypospadias, Decreased response to growth hormone stimulation test, Small for gesta... |
ORPHA:94065 |
| Wilson-Turner Syndrome |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Truncal obesity |
ORPHA:3459 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Diabetes mellitus, Hypospadias, Cryptorchidism, Advanced ossification of carpal bones, Obesity, C... |
OMIM:614613 |
| Leprosy |
|
Urticarial plaque, Hypopigmented macule, Abnormality of the spleen, Skin nodule, Testicular mass,... |
ORPHA:548 |
| Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Int... |
OMIM:243300 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism... |
ORPHA:398079 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Truncal obesity |
ORPHA:2429 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Foot osteomyelitis, Osteomyelitis, Acral ulceration |
OMIM:162400 |
| Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Hepatic cysts, Stage 5 chronic kidney disease, Gout, Polycystic kidney dyspl... |
OMIM:618061 |
| Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Epiphyseal stippling, Polycystic kidney dysplasia, Increased circulating very long-chain fatty ac... |
OMIM:614859 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, He... |
OMIM:235555 |
| X-Linked Intellectual Disability, Shashi Type |
|
Obesity |
ORPHA:85286 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Failure to thrive, Hypoglycemia, Small for gestational age, Insulin resistance, Osteoporosis, Tru... |
ORPHA:73272 |
| Plague |
|
Chapped lip, Hepatomegaly, Skin rash, Erythema nodosum, Lymphadenitis, Localized skin lesion, Abn... |
ORPHA:707 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Obesity |
ORPHA:177910 |
| Melioidosis |
|
Foot osteomyelitis, Liver abscess, Pneumonia, Abnormality of the spleen, Osteoarthritis, Hepatiti... |
ORPHA:31202 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Pericarditis, Hepatomegaly, Skin rash, Elevated circulating C-reactive protein ... |
ORPHA:85414 |
| Severe Combined Immunodeficiency, X-Linked |
|
Hepatomegaly, Skin rash, Pneumonia, Recurrent pneumonia, Hypoplasia of the thymus, Chronic oral c... |
OMIM:300400 |
| Polymyositis |
|
Hepatomegaly, Pericarditis, Elevated circulating creatine kinase concentration, Breast carcinoma,... |
ORPHA:732 |
| Pachydermoperiostosis |
|
Hepatomegaly, Osteomyelitis, Acne, Elevated circulating growth hormone concentration, Seborrheic ... |
ORPHA:2796 |
| Glycerol Kinase Deficiency |
|
Adrenocortical hypoplasia, Hypertriglyceridemia, Hypoglycemia, Increased urinary glycerol, Hyperg... |
OMIM:307030 |
| Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Abnormal dental enamel morphology, Portal hypertension, Splenomegaly, Scarring alop... |
ORPHA:59303 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Osteopenia, Hepatomegaly, Diabetes mellitus, Increased circulating thyroglobulin level, Sagittal ... |
OMIM:610199 |
| Clark-Baraitser syndrome |
|
Joint laxity, Genu recurvatum, Obesity, Genu valgum, Macroorchidism, Tall stature |
OMIM:300602 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Truncal obesity, Premature ovarian insufficiency, Camptodactyly of finger |
ORPHA:2928 |
| Renal Cysts And Diabetes Syndrome |
|
Renal cyst, Glucose intolerance, Pancreatic hypoplasia, Hypospadias, Elevated circulating creatin... |
OMIM:137920 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo... |
ORPHA:85450 |
| Incontinentia Pigmenti |
|
Skin rash, Camptodactyly of finger, Abnormal dental enamel morphology, Keratitis, Erythema, Osteo... |
ORPHA:464 |
| Xp21 Deletion Syndrome |
|
Joint laxity, Hypertriglyceridemia, Hypogonadotropic hypogonadism, Elevated circulating creatine ... |
ORPHA:261476 |
| Adenocarcinoma Of The Anal Canal |
|
Anal canal adenocarcinoma, Neoplasm of the skeletal system, Skin ulcer, Neoplasm of the lung, Neo... |
ORPHA:424016 |
| Rhizomelic Limb Shortening With Dysmorphic Features |
|
Hyperextensibility of the finger joints, Obesity, Limited shoulder movement, Patellar dislocation... |
OMIM:618821 |
| Ppoma |
|
Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortical adenoma... |
ORPHA:97278 |
| Rat-Bite Fever |
|
Abdominal aseptic abscess, Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Ly... |
ORPHA:31205 |
| Congenital Myopathy 9A |
|
Obesity |
OMIM:618822 |
| Somatostatinoma |
|
Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortical adenoma... |
ORPHA:97283 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Insulin resistance, Elevated urinary dopamine level, Hyperinsulinemia, Elevated cir... |
ORPHA:230 |
| Congenital Analbuminemia |
|
Small for gestational age, Lipodystrophy, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... |
ORPHA:86816 |
| Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Ventral hernia, Inguinal hernia, Redundant skin, Cryptorchidism, Osteoarthritis, Gene... |
OMIM:618000 |
| Dubin-Johnson Syndrome |
|
Abnormal urinary color, Hepatomegaly, Conjugated hyperbilirubinemia, Jaundice, Biliary tract abno... |
ORPHA:234 |
| Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hypo... |
ORPHA:699 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Flexion contracture, Abnormal m... |
ORPHA:367 |
| Hurler-Scheie Syndrome |
|
Hepatomegaly, Splenomegaly, Limitation of joint mobility, Rhinitis, Hernia |
ORPHA:93476 |
| Bardet-Biedl Syndrome 9 |
|
Renal insufficiency, Irregular menstruation, Obesity, Truncal obesity, Hyperglycemia |
OMIM:615986 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Obesity |
OMIM:601794 |
| Wolman Disease |
|
Hepatomegaly, Adrenal calcification, Cachexia, Splenomegaly, Ascites, Adrenal insufficiency, Stea... |
ORPHA:75233 |
| Gaucher Disease Type 1 |
|
Osteopenia, Hepatomegaly, Increased bone mineral density, Proteinuria, Hypersplenism, Splenomegal... |
ORPHA:77259 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Splenomegaly, Hepatomegaly, Failure to thrive, Enlarged kidney |
OMIM:615285 |
| Chanarin-Dorfman Syndrome |
|
Hepatomegaly, Hepatic steatosis |
OMIM:275630 |
| Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Renal insufficiency, Hypercalcemia, Hemangiomatosis, Visceral angiomatosis, Ascites |
ORPHA:2123 |
| Omenn Syndrome |
|
Hepatomegaly, Failure to thrive, Pneumonia, Splenomegaly, Lymphoma, Thyroiditis, Nephrotic syndro... |
ORPHA:39041 |
| Pyruvate Carboxylase Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Hypoglycemia, Proximal renal tubular acidosis, Hyperalani... |
OMIM:266150 |
| Shigellosis |
|
Hyponatremia, Hypoglycemia, Pneumonia, Failure to thrive in infancy, Hemolytic-uremic syndrome, M... |
ORPHA:810 |
| Atkin-Flaitz Syndrome |
|
Obesity |
ORPHA:1193 |
| Farber Disease |
|
Elevated hepatic transaminase, Abnormality of the knee, Intrahepatic cholestasis with episodic ja... |
ORPHA:333 |
| Abetalipoproteinemia |
|
Osteopenia, Decreased HDL cholesterol concentration, Failure to thrive, Hepatic steatosis, Hepato... |
ORPHA:14 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Splenomegaly, Bronchiectasis, ... |
OMIM:616100 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Decrease... |
OMIM:614922 |
| Narcolepsy 7 |
|
Obesity |
OMIM:614250 |
| Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor... |
ORPHA:400 |
| Osteoarthritis With Mild Chondrodysplasia |
|
Hip osteoarthritis, Knee osteoarthritis, Heberden's node, Joint stiffness |
OMIM:604864 |
| Nestor-Guillermo Progeria Syndrome |
|
Wide cranial sutures, Failure to thrive, Lipoatrophy, Limited elbow movement, Delayed closure of ... |
OMIM:614008 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Puberty and gonadal disorders, Hip dislocation, Urinary incontinence, Obesity |
ORPHA:464282 |
| Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Obesity, Congenital hypothyroidism |
ORPHA:352530 |
| Sapho Syndrome |
|
Psoriasiform dermatitis, Acne, Recurrent fractures, Osteomyelitis, Skin rash, Pustule, Abnormal s... |
ORPHA:793 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Macule, Fasciitis, Myositis, Pericarditis, Skin rash, Hypermelanotic macule, Elevated circulating... |
ORPHA:32960 |
| Psoriasis 14, Pustular |
|
Psoriasiform dermatitis, Cholangitis, Elevated circulating C-reactive protein concentration, Pust... |
OMIM:614204 |
| Immunodeficiency 54 |
|
Hepatomegaly, Lymphoproliferative disorder, Splenomegaly, Adrenocorticotropic hormone excess, Adr... |
OMIM:609981 |
| Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... |
ORPHA:98754 |
| Silver-Russell Syndrome |
|
Hypospadias, Shoulder dimple, Cachexia, Failure to thrive in infancy, Precocious puberty, Cryptor... |
ORPHA:813 |
| Mixed Connective Tissue Disease |
|
Hepatomegaly, Myositis, Pericarditis, Skin rash, Gastritis, Joint stiffness, Myocarditis, Splenom... |
ORPHA:809 |
| Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
|
Hip osteoarthritis, Premature osteoarthritis, Osteochondritis dissecans, Exostoses |
OMIM:165800 |
| Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp... |
ORPHA:53035 |
| Alagille Syndrome 1 |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Hepatocellular carcinoma, Multiple small med... |
OMIM:118450 |
| Peroxisome Biogenesis Disorder 3B |
|
Hepatomegaly, Very long chain fatty acid accumulation, Elevated circulating phytanic acid concent... |
OMIM:266510 |
| Glucagonoma |
|
Hepatomegaly, Necrolytic migratory erythema, Intermittent jaundice, Increased circulating cortiso... |
ORPHA:97280 |
| Spastic Paraplegia 11, Autosomal Recessive |
|
Urinary incontinence, Obesity, Ankle clonus, Urinary urgency, Urinary bladder sphincter dysfunction |
OMIM:604360 |
| Fructose Intolerance, Hereditary |
|
Elevated hepatic transaminase, Transient aminoaciduria, Hyperphosphaturia, Hepatomegaly, Hypoglyc... |
OMIM:229600 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Hepatic steatosis, Renal insufficiency, Renal cyst, Nephrocalcinos... |
ORPHA:445038 |
| Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Obesity |
ORPHA:254525 |
| Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Lymphoproliferative disorder, Splenomegaly, Recurrent pneumonia, Lymphoma, EBV ence... |
OMIM:615122 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Obesity |
OMIM:615633 |
| Nephrotic Syndrome, Type 2 |
|
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... |
OMIM:600995 |
| Grfoma |
|
Neoplasm of the thymus, Pheochromocytoma, Hepatomegaly, Intermittent jaundice, Increased circulat... |
ORPHA:97261 |
| Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Obesity |
OMIM:618124 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Obesity, Gonadoblastoma, Nephropa... |
OMIM:194072 |
| Chronic Graft Versus Host Disease |
|
Elevated hepatic transaminase, Fasciitis, Phimosis, Urinary bladder inflammation, Flexion contrac... |
ORPHA:99921 |
| Granulomatosis With Polyangiitis |
|
Episcleritis, Sinusitis, Keratitis, Uveitis, Skin ulcer, Weight loss, Conjunctivitis, Chronic oti... |
OMIM:608710 |
| Ataxia-Oculomotor Apraxia Type 4 |
|
Obesity |
ORPHA:459033 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Renal tubular acidosis, Transient hype... |
ORPHA:156 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Flexion contracture, Renal hypoplasia, Lacticaciduria, Aminoaciduria, 3-Methylgluta... |
OMIM:604273 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:363741 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Hyperpro... |
OMIM:619064 |
| Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Urticarial plaque, Increased body weight, Erythematous papule, Facial erythema, Erythematous plaq... |
ORPHA:64745 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... |
ORPHA:98793 |
| Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Atrophic gastritis, Hypertriglyceridemia, Necrotizing enterocolitis, Small for gest... |
OMIM:619573 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan... |
ORPHA:436271 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Recurrent fractures, Cranio... |
ORPHA:251004 |
| Catastrophic Antiphospholipid Syndrome |
|
Myocarditis, Skin ulcer, Arthritis |
ORPHA:464343 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Obesity |
ORPHA:397973 |
| Albers-Schönberg Osteopetrosis |
|
Joint dislocation, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized oste... |
ORPHA:53 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Viral hepatitis, Psoriasiform dermatitis, Skin rash, Cholangitis, Pneumonia, A... |
ORPHA:183675 |
| Rett Syndrome |
|
Increased serum pyruvate, Hyperammonemia, Cholecystitis, Increased serum leptin, Failure to thrive |
ORPHA:778 |
| Kallmann Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Hypogon... |
ORPHA:478 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Cachexia, Abnormality of the spleen, Splenomegaly, Skin ulcer, Hepatosplenomegaly, Azoospermia, H... |
ORPHA:2072 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... |
ORPHA:177904 |
| Wolcott-Rallison Syndrome |
|
Hyponatremia, Acute hepatic failure, Renal insufficiency, Hepatomegaly, Neonatal insulin-dependen... |
ORPHA:1667 |
| Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Arthritis, Conjunctivitis |
OMIM:617772 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... |
ORPHA:177901 |
| Wagr Syndrome |
|
Obesity |
ORPHA:893 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Elevated circulating aspartate... |
OMIM:214950 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... |
ORPHA:157 |
| Autoimmune Lymphoproliferative Syndrome |
|
Hepatocellular carcinoma, Uveitis, Colitis, Thyroid carcinoma, Hepatomegaly, Premature ovarian in... |
ORPHA:3261 |
| Bile Acid Malabsorption, Primary, 2 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:619481 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Elevated circulating C-reactive protein ... |
ORPHA:324964 |
| Coccidioidomycosis |
|
Urticarial plaque, Abnormality of the spleen, Verrucous papule, Abnormality of the liver, Morbill... |
ORPHA:228123 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Hepatic steatosis, Elevated hepatic transaminase, Hypoglycemia, Small f... |
OMIM:613658 |
| Familial Tumoral Calcinosis |
|
Hepatomegaly, Skin rash, Splenomegaly, Erythema, Subcutaneous nodule, Hypopigmented skin patches,... |
ORPHA:53715 |
| Clark-Baraitser Syndrome |
|
Obesity |
OMIM:617752 |
| Retinitis Pigmentosa 51 |
|
Obesity |
OMIM:613464 |
| Paget Disease Of Bone 6 |
|
Nephrocalcinosis, Osteoarthritis, Left ventricular hypertrophy, Recurrent fractures |
OMIM:616833 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Nonketotic hypoglycemia, Hepatomegaly, Acute pancreatitis, Ketonuria, Elevated hepatic transamina... |
ORPHA:20 |
| Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive |
|
Foot osteomyelitis, Hypotriglyceridemia, Decreased circulating apolipoprotein B concentration, Ac... |
OMIM:256840 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Glomerulonephritis, Splenomegaly, Thyroiditis, Hodgkin lymphoma |
OMIM:619375 |
| Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Joint dislocation, Hyperextensibility of the finger joints, Inguinal hernia, Subcutaneous spheroi... |
OMIM:130000 |
| Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Increased bone mineral density, Osteoma cutis, Decreased response to growth hormone s... |
ORPHA:79444 |
| 13Q12.3 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Obesity, Atopic dermatitis, Camptodactyly, Chron... |
ORPHA:412035 |
| Kid Syndrome |
|
Angular cheilitis, Posterior blepharitis, Scarring alopecia of scalp, Patellar hypoplasia, Knee f... |
ORPHA:477 |
| 14Q11.2 Microduplication Syndrome |
|
Obesity |
ORPHA:261229 |
| Localized Scleroderma |
|
Fasciitis, Cutaneous sclerotic plaque, Localized skin lesion, Flexion contracture, Erythema, Hypo... |
ORPHA:90289 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Splenomegaly, Flexion contracture, Recurrent pneumonia, Nephrotic synd... |
OMIM:617303 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Hypoglycemia, 3-Methylglutaconic aciduria, Hypoalbuminemia, Macrov... |
OMIM:618329 |
| Vexas Syndrome |
|
Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Chondritis of pinna,... |
OMIM:301054 |
| X-Linked Intellectual Disability, Stevenson Type |
|
Obesity, Tall stature |
ORPHA:85325 |
| Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
| Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Abnormality of the knee, Abnormality of the epiphyses of the elbow, Osteoarthritis, Genu valgum, ... |
ORPHA:166002 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Recurrent skin infections, Splenomegaly, Subcutaneous nodule, Hepatosplenomegaly, O... |
OMIM:612840 |
| Megalencephaly |
|
Macroorchidism, Truncal obesity, Long penis, Genu valgum |
ORPHA:2477 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
| Primary Myelofibrosis |
|
Hepatomegaly, Cachexia, Portal hypertension, Hematological neoplasm, Splenomegaly, Hepatosplenome... |
ORPHA:824 |
| Pediatric Hepatocellular Carcinoma |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal vein thrombosis, Hepat... |
ORPHA:33402 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Joint laxity, Increased body mass index, Small for gestational age, Cryptorchidism, Truncal obesi... |
OMIM:300957 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Osteopenia, Arthropathy, Redundant skin, Seborrheic dermatitis, Limitation of joint mobility, Ost... |
OMIM:259100 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Increased inflammatory response, Increased bone mineral density, Osteoarthritis of the distal int... |
ORPHA:93284 |
| Osteopetrosis, Autosomal Dominant 3 |
|
Osteopenia, Hepatomegaly, Hyperparathyroidism, Recurrent fractures, Splenomegaly |
OMIM:618107 |
| Cranio-Osteoarthropathy |
|
Abnormality of the knee, Eczema, Joint stiffness, Osteoarthritis, Arthritis, Joint swelling |
ORPHA:1525 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Obesity |
OMIM:619854 |
| Harderoporphyria |
|
Hepatomegaly, Increased urine harderoporphyrin level, Increased circulating ferritin concentratio... |
OMIM:618892 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H... |
OMIM:607626 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Flexion contracture, Obesity, Macroorchidism, Male hypogonadism, Wrist flexion contracture |
OMIM:300055 |
| Tatton-Brown-Rahman Syndrome |
|
Cryptorchidism, Obesity, Proportionate tall stature, Umbilical hernia, Myeloid leukemia, Neuroend... |
ORPHA:404443 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Elevated circulating creatine kinase concentration, Achilles tendon contracture, Obesity, Left ve... |
OMIM:615418 |
| Bardet-Biedl Syndrome 6 |
|
Diabetes mellitus, Hypospadias, Obesity, Renal cyst |
OMIM:605231 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Polyuria, Cryptorchidism, Elevated circulating thyroid-stimul... |
OMIM:618183 |
| Indolent Systemic Mastocytosis |
|
Hepatomegaly, Skin rash, Maculopapular exanthema, Hematological neoplasm, Splenomegaly, Osteoporosis |
ORPHA:98848 |
| Sézary Syndrome |
|
Hepatomegaly, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Neoplasm of the skin, Erythroder... |
ORPHA:3162 |
| Immunodeficiency 102 |
|
Hepatomegaly, Recurrent skin infections, Nodular regenerative hyperplasia of liver, Hypothyroidis... |
OMIM:301082 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Hypoglycemia, Increased level of hippuric acid in urine, Glutaric aciduria, Hyperam... |
OMIM:246450 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Subcutaneous nodule, Lymphoma, Skin ulcer, Panniculitis, Scaling skin, Cellulitis, Leukemia, Dry ... |
ORPHA:2526 |
| Shox-Related Short Stature |
|
Madelung deformity, Obesity, Genu valgum, Cubitus valgus, Ulnar radial head dislocation |
ORPHA:314795 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614924 |
| Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Small for gestational age, Decreased serum iron, Chronic hepatitis, Colitis, Cirrho... |
OMIM:614602 |
| Sea-Blue Histiocytosis |
|
Hepatomegaly, Splenomegaly, Subcutaneous nodule, Blepharitis, Petechiae |
ORPHA:158029 |
| Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Decreased response to growth hormone stimulation test, Wide penis, Vesicoureteral ref... |
ORPHA:3455 |
| Griscelli Syndrome Type 2 |
|
Hepatomegaly, Splenomegaly, Hyperlipidemia, Jaundice, Petechiae |
ORPHA:79477 |
| Autosomal Dominant Spastic Paraplegia Type 36 |
|
Urinary urgency, Arthritis, Urinary incontinence |
ORPHA:320365 |
| Anti-Glomerular Basement Membrane Disease |
|
Renal insufficiency, Proteinuria, Hematuria, Arthritis, Purpura |
ORPHA:375 |
| Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities |
|
Eczema, Obesity, Organic aciduria, Dry skin, Joint hypermobility |
OMIM:620191 |
| Bardet-Biedl Syndrome 1 |
|
Diabetes mellitus, Nephrogenic diabetes insipidus, Insulin resistance, Biliary tract abnormality,... |
OMIM:209900 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Obesity |
ORPHA:411515 |
| Webb-Dattani Syndrome |
|
Neurogenic bladder, Decreased response to growth hormone stimulation test, Anterior pituitary hyp... |
OMIM:615926 |
| Müllerian Aplasia And Hyperandrogenism |
|
Acne, Obesity, Primary amenorrhea, Increased serum testosterone level, Cubitus valgus |
ORPHA:247768 |
| Dilated Cardiomyopathy With Ataxia |
|
Elevated hepatic transaminase, Hypoplasia of penis, Bilateral cryptorchidism, Microvesicular hepa... |
ORPHA:66634 |
| Klippel-Trénaunay Syndrome |
|
Hepatomegaly, Abnormality of the menstrual cycle, Hematuria, Cellulitis, Hemangioma, Ascites, Tal... |
ORPHA:90308 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin... |
ORPHA:158048 |
| Hip Dysplasia, Beukes Type |
|
Abnormal ossification involving the femoral head and neck, Osteoarthritis, Abnormality of bone mi... |
ORPHA:2114 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Xanthomatosis, Hyperuricemia, Hypoglycemia |
ORPHA:364 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Splenomegaly, Weight loss, Acute leukemia, Pallor, Myeloproliferative disorder, Chr... |
ORPHA:3226 |
| Leukocyte Adhesion Deficiency, Type I |
|
Osteomyelitis, Elevated circulating C-reactive protein concentration, Skin ulcer, Chronic mucocut... |
OMIM:116920 |
| Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hepatomegaly, Hyperphosphaturia, Hypercalcemia, Recurrent fractures, Polyuria, Spleno... |
OMIM:239200 |
| Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... |
OMIM:603278 |
| Osteoarthritis Susceptibility 2 |
|
Osteoarthritis, Heberden's node |
OMIM:140600 |
| Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Arthritis, Crescentic glomerulonephritis, Elevated circulating C-reactive protein concentration |
OMIM:616414 |
| Dysplasia Epiphysealis Hemimelica |
|
Tarsal synostosis, Recurrent fractures, Joint stiffness, Osteoarthritis, Genu valgum, Exostoses, ... |
ORPHA:1822 |
| Cinca Syndrome |
|
Joint dislocation, Hepatomegaly, Delayed closure of the anterior fontanelle, Elevated circulating... |
ORPHA:1451 |
| Budd-Chiari Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... |
ORPHA:131 |
| Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Sinusitis, Severe periodontitis, Pneumonia, Osteomyelitis, Recurrent skin... |
ORPHA:2968 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Hepatomegaly, Polyuria, Osteoporosis, Rickets, Proximal tubulopathy, Type I diabetes mellitus, Fa... |
OMIM:560000 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Increased circulating ferritin concentration, Hypoplastic spleen, Hypertriglyceridemia, Hypoplasi... |
OMIM:619313 |
| Idiopathic Intracranial Hypertension |
|
Obesity |
ORPHA:238624 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Gout, Focal se... |
OMIM:617056 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Failure to thrive in infancy, Cholestasis, Hypocalcemia, Left ventricular hyp... |
ORPHA:746 |
| Beckwith-Wiedemann Syndrome |
|
Omphalocele, Hepatomegaly, Prominent metopic ridge, Adrenocortical cytomegaly, Hepatoblastoma, Ne... |
OMIM:130650 |
| Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Hip contracture, Abnormality of the knee, Protrusio acetabuli, Limited hip movement, Hip osteoart... |
ORPHA:99642 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Dicarboxylic aciduria, Hypoglycemia, Microvesicular hepatic steato... |
OMIM:611126 |
| Rheumatic Fever |
|
Macule, Pericarditis, Sinusitis, Myocarditis, Subcutaneous nodule, Erythema, Endocarditis, Arthri... |
ORPHA:3099 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Splenomegaly, Lymph... |
ORPHA:436159 |
| Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Pneumonia, Elevated circulating growth hormone concentration, Increased circulating... |
ORPHA:97287 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Keratoconjunctivitis sicca, Skin ulcer |
ORPHA:1806 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Splenomegaly, Jaundice, Pallor, Cholecystitis, Unconjugated hyperbilirubinemia, Cho... |
OMIM:266200 |
| Familial Multiple Lipomatosis |
|
Odontogenic keratocysts of the jaw, Lipodystrophy, Increased adipose tissue, Insulin resistance, ... |
ORPHA:199276 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Obesity |
OMIM:301013 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive |
|
Hip osteoarthritis, Osteoarthritis |
OMIM:271600 |
| Familial Avascular Necrosis Of Femoral Head |
|
Hip osteoarthritis, Limited hip movement |
ORPHA:86820 |
| Chromosome 3Q29 Duplication Syndrome |
|
Obesity |
OMIM:611936 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Arthritis, Limitation of joint mobility |
ORPHA:2582 |
| Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Urinary incontinence, Elevated circulating... |
ORPHA:64 |
| Joubert Syndrome 8 |
|
Hepatomegaly, Obesity, Prolonged neonatal jaundice |
OMIM:612291 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Joint laxity, Multiple joint dislocation, Hip dislocation, Obesity, Knee dislocation, Delayed oss... |
OMIM:618395 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Hepatomegaly, Failure to thrive, Osteopetrosis |
OMIM:615085 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Obesity, Tall stature |
OMIM:618089 |
| Attenuated Chédiak-Higashi Syndrome |
|
Skin ulcer |
ORPHA:352723 |
| Scedosporiosis |
|
Pericarditis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Pneumonia, Diabetes mellitus, Subcu... |
ORPHA:449280 |
| 6Q16 Microdeletion Syndrome |
|
Obesity |
ORPHA:171829 |
| Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recur... |
OMIM:607594 |
| Epiphyseal Dysplasia, Multiple, 1 |
|
Joint stiffness, Delayed epiphyseal ossification, Generalized joint laxity, Genu valgum, Hip oste... |
OMIM:132400 |
| Fucosidosis |
|
Hepatomegaly, Lipoatrophy, Cardiomegaly, Abnormality of the gallbladder, Mucopolysacchariduria, F... |
ORPHA:349 |
| Amoebiasis Due To Free-Living Amoebae |
|
Sinusitis, Stiff neck, Pneumonia, Pustule, Subcutaneous nodule, Skin ulcer, Abnormality of the ad... |
ORPHA:68 |
| Chime Syndrome |
|
Erythema, Hip dislocation, Osteolysis, Skin ulcer, Acute leukemia, Hydronephrosis, Tall stature |
ORPHA:3474 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Stage 5 chronic kidney disease, Hyperammonemi... |
OMIM:251000 |
| Nail-Patella Syndrome |
|
Flexion contracture, Patellar hypoplasia, Knee flexion contracture, Reduced bone mineral density,... |
ORPHA:2614 |
| Down Syndrome |
|
Joint laxity, Decreased fertility, Obesity, Type II diabetes mellitus, Umbilical hernia, Hypothyr... |
ORPHA:870 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Osteomalacia, Abnormal circulating calcium concentration, Osteoarthritis, Enamel hypomineralizati... |
OMIM:307800 |
| Septo-Optic Dysplasia Spectrum |
|
Hypoplasia of penis, Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchidism, Obesity, D... |
ORPHA:3157 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Joint hyperflexibility, Truncal obesity, Hypogonadism, Campt... |
ORPHA:127 |
| Desbuquois Dysplasia 1 |
|
Joint dislocation, Joint laxity, Phalangeal dislocation, Osteoarthritis, Osteoporosis, Advanced o... |
OMIM:251450 |
| Aicardi-Goutieres Syndrome 7 |
|
Hepatic steatosis, Atrophic gastritis, Hepatomegaly, Skin rash, Pneumonia, Chilblains, Increased ... |
OMIM:615846 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Failure to thrive, Cryptorchidism, Jaundice, Eleva... |
OMIM:214110 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Congenital hip dislocation, Microvesicular hepatic steatosis, Reduced bone mineral density, Shoul... |
ORPHA:404454 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Hepatomegaly, Osteomyelitis, Skin rash, Failure to thrive in infancy, Elevated circul... |
OMIM:612852 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Fulminant hepa... |
OMIM:308240 |
| Bardet-Biedl Syndrome 20 |
|
Elevated hepatic transaminase, Hypercholesterolemia, Proteinuria, Bilateral cryptorchidism, Obesi... |
OMIM:619471 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan... |
OMIM:220110 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Hepatomegaly, Inguinal hernia, Proteinuria, Glomerulonephritis, Elevated circulating creatinine c... |
OMIM:614376 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia |
OMIM:615863 |
| Congenital Tufting Enteropathy |
|
Weight loss, Arthritis, Cholestatic liver disease, Steatorrhea, Punctate keratitis, Failure to th... |
ORPHA:92050 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Lymphocytic interstitial pneumonia, Splenomegaly, Recurrent otitis media, Failure t... |
OMIM:618495 |
| Parkes Weber Syndrome |
|
Hemangiomatosis, Skin ulcer, Nephrotic syndrome, Erythematous plaque, Urinary retention, Capillar... |
ORPHA:90307 |
| Immunodeficiency 32B |
|
Hepatomegaly, Sinusitis, Pneumonia, Splenomegaly, Bronchiectasis, Hypoalbuminemia, Failure to thrive |
OMIM:226990 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Osteopenia, Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Precocious... |
ORPHA:369837 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Flexion contracture, Renal hypoplasia, Genu valgum, Abdominal obesity, Hypoplasia of the ovary, A... |
OMIM:619321 |
| Pseudohypoparathyroidism Type 1A |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:79443 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatomegaly, Hypoglycemia, Precocious puberty, Hip dislocation, Obesity, Genu valgum, Hepatosple... |
OMIM:301066 |
| Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Hepatomegaly, Splenomegaly, Interstitial pneumonitis, Petechiae, Purpura |
OMIM:620296 |
| Yao Syndrome |
|
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Nephrolithiasis, Weight loss, Arth... |
OMIM:617321 |
| Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Truncal obesity |
OMIM:613192 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Splenomegaly, Hepatomegaly, Jaundice, Pallor |
OMIM:615631 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Flexion contracture, Recurrent pneumonia, 3-Methylglutaconic aciduria, Hepatic steatosis, Neonata... |
OMIM:616271 |
| Peripheral Dysostosis |
|
Osteoarthritis, Joint stiffness |
ORPHA:1795 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Increased inflammatory response, Myositis, Sinusitis, Skin rash, Renal insufficiency, Proteinuria... |
ORPHA:183 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Increased circulating ferritin concentration, Splenomegaly, Jaundice, Hepatitis, He... |
OMIM:194380 |
| Pde4D Haploinsufficiency Syndrome |
|
Joint laxity, Hypospadias, Abnormal dental enamel morphology, Cryptorchidism, Obesity, Elevated c... |
ORPHA:439822 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Increased bone mineral density, Recurrent fractures, Splenomegaly, Osteopetrosis, P... |
OMIM:611490 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Laryngeal carcinoma, Hypertriglyceridemia, Hypospadias, Carcinoma, Hypercholesterolemia, Decrease... |
OMIM:610644 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Pneumonia, Decreased response to growth hormone stimulation test, Enteroviral hepatiti... |
OMIM:307200 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Preauricular pit, Hepatomegaly, Portal hypertension, Malformation of ... |
OMIM:208540 |
| Primary Sclerosing Cholangitis |
|
Osteopenia, Acute hepatic failure, Uveitis, Hypoalbuminemia, Hepatic fibrosis, Neoplasm of the ga... |
ORPHA:171 |
| Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Preauricular pit, Hepatomegaly, Renal insufficiency, Reduced pancreatic beta cells, Irregular car... |
OMIM:226980 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglyc... |
ORPHA:453533 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypertyrosinemia, Elevated hepatic transaminase, Hypoglycemia, Cholangitis, Microvesicular hepati... |
OMIM:124000 |
| Tyrosinemia, Type I |
|
Acute hepatic failure, Nephrocalcinosis, Renal Fanconi syndrome, Hypophosphatemic rickets, Hepato... |
OMIM:276700 |
| Lyme Disease |
|
Skin nodule, Uveitis, Arthritis, Joint swelling, Dermal atrophy, Infectious encephalitis |
ORPHA:91546 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Methylmalonic acidemia, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Hypospadias, F... |
ORPHA:17 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Hypoplasia of penis, Inguinal hernia, Camptodactyly of finger, Cachexia, Obesity, Joint hyperflex... |
ORPHA:85293 |
| Relapsing Polychondritis |
|
Episcleritis, Macule, Pericarditis, Renal insufficiency, Proteinuria, Chondritis of pinna, Kerati... |
ORPHA:728 |
| Diffuse Cutaneous Mastocytosis |
|
Hepatomegaly, Abnormality of the spleen, Abnormality of the liver, Scaling skin, Myeloproliferati... |
ORPHA:79456 |
| Lig4 Syndrome |
|
Hepatomegaly, Hypoplasia of penis, Cryptorchidism, Erythema, Lymphoma, Acute leukemia, Type II di... |
ORPHA:99812 |
| Mucopolysaccharidosis, Type Iiia |
|
Hepatomegaly, Inguinal hernia, Joint stiffness, Heparan sulfate excretion in urine, Splenomegaly,... |
OMIM:252900 |
| Transketolase Deficiency |
|
Increased level of ribose in urine, Hepatomegaly, Seborrheic dermatitis, Secondary amenorrhea, Uv... |
ORPHA:488618 |
| Lysinuric Protein Intolerance |
|
Hepatomegaly, Failure to thrive, Hypolysinemia, Recurrent fractures, Increased circulating ferrit... |
OMIM:222700 |
| Severe Hemophilia A |
|
Limb joint contracture, Limitation of joint mobility, Synovitis, Joint swelling, Menorrhagia, Pro... |
ORPHA:169802 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Membranoproliferative glomerulone... |
OMIM:619525 |
| Beukes Hip Dysplasia |
|
Osteoarthritis, Shallow acetabular fossae |
OMIM:142669 |
| Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Hepatomegaly, Pericarditis, Pallor |
ORPHA:163596 |
| Familial Mediterranean Fever |
|
Hepatomegaly, Pericarditis, Elevated circulating C-reactive protein concentration, Orchitis, Sple... |
OMIM:249100 |
| Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Chronic kidney disease, Cholestasis, Nephrotic syndrome, Adrenal insuf... |
ORPHA:85445 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Osteomyelitis, Neuropathic arthropathy, Keratitis, Corneal scarring, Acral ulceration |
OMIM:256800 |
| Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Cholelithiasis |
OMIM:605479 |
| Progressive Pseudorheumatoid Dysplasia |
|
Arthropathy, Enlarged interphalangeal joints, Camptodactyly of finger, Joint stiffness, Osteoarth... |
OMIM:208230 |
| Familial Cold Autoinflammatory Syndrome 1 |
|
Skin rash, Elevated circulating C-reactive protein concentration, Uveitis, Arthritis, Conjunctivitis |
OMIM:120100 |
| Oculoskeletodental Syndrome |
|
Hepatomegaly, Small for gestational age, Hypercalcemia, Cryptorchidism, Splenomegaly, Elbow flexi... |
OMIM:618440 |
| Lesch-Nyhan Syndrome |
|
Hematuria, Renal insufficiency, Hyperuricemia, Gout |
ORPHA:510 |
| Nephrotic Syndrome, Type 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Sma... |
OMIM:256300 |
| Adult Syndrome |
|
Dry skin, Thin skin, Skin ulcer, Melanocytic nevus |
ORPHA:978 |
| Prader-Willi Syndrome |
|
Osteopenia, Decreased response to growth hormone stimulation test, Periodontitis, Premature adren... |
ORPHA:739 |
| Xylt1-Cdg |
|
Joint dislocation, Joint laxity, Hepatomegaly, Acne, Truncal obesity |
ORPHA:370930 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Abnormal penis morphology, Anterior uveitis, Inflammatory abnormality of the skin, Elevated hepat... |
ORPHA:95455 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Premature pubarche, Precocious puberty, Cryptorchidism, Flexion contracture, Osteopor... |
ORPHA:398069 |
| Hereditary Xanthinuria |
|
Arthropathy, Crystalluria, Hypouricemia, Xanthine nephrolithiasis, Xanthinuria, Gout, Hyperxanthi... |
ORPHA:3467 |
| Sitosterolemia 1 |
|
Hyperapobetalipoproteinemia, Tuberous xanthoma, Elevated circulating sitosterol concentration, Sp... |
OMIM:210250 |
| Insulin-Like Growth Factor I, Resistance To |
|
Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Increased circulating insu... |
OMIM:270450 |
| Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Osteoarthritis, Exostoses |
ORPHA:166100 |
| Chromosome 2Q37 Deletion Syndrome |
|
Hypothyroidism, Eczema, Obesity |
OMIM:600430 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Eczema, Elevated circulating creatine kinase concent... |
OMIM:615895 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Obesity |
ORPHA:3077 |
| Familial Cold Urticaria |
|
Arthritis, Erythema, Conjunctivitis |
ORPHA:47045 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Hepatomegaly, Limb joint contracture, Seborrheic dermatitis, Splenomegaly, Micronodular cirrhosis... |
OMIM:301072 |
| Neonatal Lupus Erythematosus |
|
Elevated hepatic transaminase, Hepatomegaly, Skin rash, Maculopapular exanthema, Splenomegaly, Ch... |
ORPHA:398124 |
| Steinert Myotonic Dystrophy |
|
Brain neoplasm, Decreased response to growth hormone stimulation test, Non-medullary thyroid carc... |
ORPHA:273 |
| Slipped Femoral Capital Epiphyses |
|
Hip osteoarthritis |
OMIM:182260 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Failure to thrive, Congenital hip dislocation, Foot joint contracture, Diabetes mel... |
ORPHA:456312 |
| Combined Oxidative Phosphorylation Deficiency 27 |
|
Microvesicular hepatic steatosis, Failure to thrive, Hyperammonemia |
OMIM:616672 |
| Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr... |
OMIM:301068 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Painless fractures due to injury, Osteolytic defects of the phalanges of the hand, Acral ulcerati... |
OMIM:201300 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Proteinuria, Chronic kidney disease, Obesity, Hyperuricemia, Vesicoureteral reflux |
ORPHA:261222 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hip contracture, Hepatomegaly, Seborrheic dermatitis, Large for gestational age, Birth length gre... |
OMIM:300868 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Insulin resistance, Delayed puberty, Hyperlipidemia, Osteolysis, Generalized lipodyst... |
ORPHA:90154 |
| Meningioma |
|
Decreased circulating cortisol level, Urinary incontinence, Reduced circulating prolactin concent... |
ORPHA:2495 |
| Epiphyseal Dysplasia, Multiple, 5 |
|
Premature osteoarthritis, Delayed ossification of carpal bones, Delayed tarsal ossification, Genu... |
OMIM:607078 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Splenomegaly, Osteopetrosis, Reduced renal corticomedullary differentiation, Cafe-a... |
OMIM:618541 |
| Radio-Tartaglia Syndrome |
|
Precocious puberty, Obesity, Hemangioma, Dry skin, Striae distensae |
OMIM:619312 |
| Hyperzincemia With Functional Zinc Depletion |
|
Increased serum zinc, Skin rash, Osteoporosis, Hepatomegaly |
OMIM:601979 |
| Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:614887 |
| Digeorge Syndrome |
|
Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Hypocalcemia, Hepat... |
OMIM:188400 |
| Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies |
|
Craniosynostosis, Obesity, Joint hypermobility |
OMIM:619056 |
| Schimke Immuno-Osseous Dysplasia |
|
Failure to thrive, Proteinuria, Hypermelanotic macule, Abnormality of thyroid physiology, Minimal... |
ORPHA:1830 |
| Bardet-Biedl Syndrome 17 |
|
Polyuria, Stage 5 chronic kidney disease, Renal cyst, Obesity, Hypogonadism, Micropenis |
OMIM:615994 |
| Distal Deletion 12Q |
|
Late onset atopic dermatitis, Diabetes mellitus, Unilateral cryptorchidism, Failure to thrive in ... |
ORPHA:96149 |
| Meckel Syndrome, Type 3 |
|
Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Bile duct p... |
OMIM:607361 |
| Heme Oxygenase 1 Deficiency |
|
Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Elevate... |
OMIM:614034 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Precocious puberty, Hepatomegaly, Obesity |
ORPHA:163681 |
| Ataxia With Vitamin E Deficiency |
|
Hypertriglyceridemia, Tendon xanthomatosis, Increased LDL cholesterol concentration, Xanthelasma,... |
OMIM:277460 |
| Aicardi-Goutières Syndrome |
|
Elevated hepatic transaminase, Enchondroma, Myositis, Multiple joint contractures, Diabetes melli... |
ORPHA:51 |
| Hypochondroplasia |
|
Joint hyperflexibility, Osteoarthritis, Abnormality of the elbow, Genu varum |
ORPHA:429 |
| Tangier Disease |
|
Hypertriglyceridemia, Hepatosplenomegaly, Hypocholesterolemia, Left ventricular hypertrophy, Dry ... |
ORPHA:31150 |
| Epiphyseal Dysplasia, Multiple, 6 |
|
Abnormality of the knee, Osteoarthritis |
OMIM:614135 |
| Familial Mediterranean Fever |
|
Acute hepatic failure, Pericarditis, Skin rash, Proteinuria, Orchitis, Splenomegaly, Osteoarthrit... |
ORPHA:342 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal insufficiency, Gout, Hyperuricemia, Nephropathy, Nephritis, Decreased glomerular filtration... |
OMIM:162000 |
| Zika Virus Disease |
|
Maculopapular exanthema, Ankle swelling, Skin rash, Wrist swelling, Arthritis, Conjunctivitis, In... |
ORPHA:448237 |
| Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Skin rash, Eczema, Bronchiectasis, Weight loss, Keratoconjunctivitis sicca, Abnorma... |
ORPHA:79128 |
| Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Abnormality of the fascia, Anterior uveitis, Knee osteoarthritis, Abnormality of the elbow, Oligo... |
ORPHA:85438 |
| Oligoarticular Juvenile Idiopathic Arthritis |
|
Knee osteoarthritis, Oligoarthritis, Uveitis, Abnormality of the ankle, Rheumatoid arthritis, Fai... |
ORPHA:85410 |
| Spondyloenchondrodysplasia |
|
Enchondroma, Skin rash, Pneumonia, Decreased response to growth hormone stimulation test, Protein... |
ORPHA:1855 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Glomerulonephritis, Cardiomegaly, Hepatosplenomegaly, Pallor, Failure to thrive |
ORPHA:99931 |
| Systemic Lupus Erythematosus, Susceptibility To, 6 |
|
Arthritis, Pericarditis, Malar rash, Abnormal renal physiology |
OMIM:609939 |
| 2Q37 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Eczema, Congenital diaphragmatic hernia, Obesity, Joint hyperflexib... |
ORPHA:1001 |
| American Trypanosomiasis |
|
Hepatomegaly, Skin rash, Myocarditis, Localized skin lesion, Splenomegaly, Pallor, Infectious enc... |
ORPHA:3386 |
| Roifman-Chitayat Syndrome |
|
Osteopenia, Pneumonia, Ectopic kidney, Arthritis, Umbilical hernia |
OMIM:613328 |
| Campomelia, Cumming Type |
|
Hepatomegaly, Abnormally ossified vertebrae, Multicystic kidney dysplasia, Myelodysplasia, Pancre... |
ORPHA:1318 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Inguinal hernia, Diabetes mellitus, Unilateral renal agenesis, Ectopic kidney, Cryptorchidism, In... |
OMIM:616541 |
| Ulnar Hemimelia |
|
Limited elbow movement, Osteoarthritis, Humeroradial synostosis, Elbow flexion contracture, Antec... |
ORPHA:93320 |
| Ulnar-Mammary Syndrome |
|
Hypoplasia of penis, Camptodactyly of finger, Cryptorchidism, Decreased fertility, Renal hypoplas... |
ORPHA:3138 |
| Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Hepatomegaly, Obesity, Genu valgum |
OMIM:618443 |
| Gitelman Syndrome |
|
Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Tubulointerstitial nephriti... |
ORPHA:358 |
| Cold Agglutinin Disease |
|
Splenomegaly, Abnormal urinary color, Pallor, Hepatomegaly |
ORPHA:56425 |
| Neuroendocrine Tumor Of The Colon |
|
Elevated hepatic transaminase, Hepatomegaly, Weight loss, Increased serum serotonin, Atypical pul... |
ORPHA:100080 |
| Man1B1-Cdg |
|
Multiple cafe-au-lait spots, Truncal obesity, Joint hypermobility, Cutis laxa |
ORPHA:397941 |
| Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Lymphoproliferative disorder, B-cell lymphoma, Elevated circulating C-reactive prot... |
OMIM:613011 |
| Chikungunya |
|
Macule, Maculopapular exanthema, Skin rash, Joint stiffness, Erythema nodosum, Crusting erythemat... |
ORPHA:324625 |
| Syndromic Diarrhea |
|
Hepatomegaly, Inguinal hernia, Gastritis, Small for gestational age, Splenomegaly, Renal hypoplas... |
ORPHA:84064 |
| Idiopathic Hypereosinophilic Syndrome |
|
Elevated hepatic transaminase, Inflammatory abnormality of the skin, Ankle swelling, Cholangitis,... |
ORPHA:3260 |
| Wild Type Abeta2M Amyloidosis |
|
Arthropathy, Arthritis |
ORPHA:85446 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Osteoarthritis, Limitation of joint mobility, Abnormal carpal morphology, Osteoporosis, Abnormal ... |
ORPHA:93351 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Elevated circulating alpha-fetoprotein concentration, Jaundice... |
OMIM:613095 |
| Postinfectious Vasculitis |
|
Abnormal circulating protein concentration, Viral hepatitis, Inflammatory abnormality of the skin... |
ORPHA:48435 |
| Immunodeficiency 7 |
|
Hepatomegaly, Splenomegaly, Chronic oral candidiasis, Recurrent otitis media, Failure to thrive |
OMIM:615387 |
| Chédiak-Higashi Syndrome |
|
Hyponatremia, Recurrent bacterial skin infections, Elevated hepatic transaminase, Hypertriglyceri... |
ORPHA:167 |
| Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Hip osteoarthritis, Joint hyperflexibility |
ORPHA:63442 |
| Smith-Lemli-Opitz Syndrome |
|
Facial capillary hemangioma, Renal cyst, Hypoalbuminemia, Hypocholesterolemia, Micropenis, Hepati... |
OMIM:270400 |
| Luscan-Lumish Syndrome |
|
Irregular menstruation, Advanced ossification of carpal bones, Obesity, Overgrowth, Recurrent oti... |
OMIM:616831 |
| X-Linked Intellectual Disability, Hedera Type |
|
Obesity |
ORPHA:93952 |
| Multiple Epiphyseal Dysplasia, Beighton Type |
|
Abnormal acetabulum morphology, Joint stiffness, Osteoarthritis, Limitation of joint mobility, Ge... |
ORPHA:166011 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Inguinal hernia, Redundant neck skin, Thyroid lymphangiectasia, Cryptorchidism, Spl... |
OMIM:235255 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aciduria, Microvesicular hepa... |
OMIM:203700 |
| Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Pancreatic fibrosis, Hepa... |
OMIM:557000 |
| Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Abnormality of the knee, Anterior uveitis, Psoriasiform dermatitis, Generalized morning stiffness... |
ORPHA:85436 |
| Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
| Osteoarthritis Susceptibility 1 |
|
Hip osteoarthritis |
OMIM:165720 |
| Bardet-Biedl Syndrome 12 |
|
Hydroureter, Abdominal mass, Obesity, Cystic renal dysplasia, Hypogonadism, Hydronephrosis |
OMIM:615989 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Obesity, Tall stature |
OMIM:618430 |
| Systemic Lupus Erythematosus |
|
Pericarditis, Lupus nephritis, Arthritis, Malar rash, Nephritis |
OMIM:152700 |
| Hypermanganesemia With Dystonia 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Increased total iron binding capa... |
OMIM:613280 |
| Peripheral Dysostosis |
|
Hip osteoarthritis |
OMIM:170700 |
| Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome |
|
Osteoarthritis |
ORPHA:435804 |
| Caroli Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... |
ORPHA:480520 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, F... |
OMIM:619503 |
| Xp22.13P22.2 Duplication Syndrome |
|
Macroorchidism, Truncal obesity, Umbilical hernia, Congenital diaphragmatic hernia |
ORPHA:284180 |
| Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Epiphyseal stippling, Renal cyst, Increased circulating very long-chain fatty acid concentration,... |
OMIM:614862 |
| Kleefstra Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Tracheomalacia, Cryptorchidism, Limitation... |
ORPHA:261494 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bilateral cryptorchidism, Epispadias, Micropenis, Hypothyroidism, Penoscrotal hypospadias, Male i... |
ORPHA:1772 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating acylcarn... |
ORPHA:159 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Osteopenia, Atrophic gastritis, Hypergonadotropic hypogonadism, Iridocyclitis, Primary adrenal in... |
ORPHA:227990 |
| Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Crystalluria, Renal insufficiency, Gout, Hyperuricosuria, Arthritis, Hyperuricemia, Uric acid nep... |
ORPHA:411543 |
| Arima Syndrome |
|
Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedu... |
OMIM:243910 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Acute myeloid leukemia, Hepatomegaly, Myelodysplasia, Hematological neoplasm, Splenomegaly, Lymph... |
ORPHA:98849 |
| Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Enamel hypoplasia, Skin ulcer, Amelogenesis imperfecta |
OMIM:245660 |
| Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Osteoarthritis |
ORPHA:93283 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Elevated circulating C-reactive protein concentration, Postauricular pit, Colitis, Hypoalbuminemi... |
OMIM:619381 |
| 1P36 Deletion Syndrome |
|
Macule, Hepatic steatosis, Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Joint stiff... |
ORPHA:1606 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Osteopenia, Atrophic gastritis, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Ir... |
ORPHA:227982 |
| Momo Syndrome |
|
Large for gestational age, Abnormality of the thyroid gland, Obesity, Overgrowth, Abnormal bone o... |
ORPHA:2563 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Joint laxity, Cryptorchidism, Disproportionate tall stature, Abdominal obesity, Camptodactyly |
OMIM:301039 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Osteoarthritis, Joint stiffness |
ORPHA:1345 |
| Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Hip osteoarthritis |
OMIM:619248 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Osteopenia, Precocious puberty, Moderate albuminuria, Dentinogenesis imperfecta, Obesity, Periodo... |
OMIM:619269 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Obesity |
ORPHA:2180 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin resistance, Flexion contracture, Limitation of joint mobility, Osteolysis, Lack of skin e... |
ORPHA:90153 |
| Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Failure to thrive, Hypertriglyceridemia, Hypospadias, Pneumo... |
OMIM:264090 |
| Polycystic Liver Disease 2 With Or Without Kidney Cysts |
|
Hepatomegaly, Hepatic cysts |
OMIM:617004 |
| Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Arthritis, Hyperuricemia... |
ORPHA:411536 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome... |
OMIM:263200 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Hypoplasia of penis, Renal insufficiency, Failure to thrive, Femoral hernia, Inguinal hernia, Cry... |
ORPHA:96147 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Osteopenia, Elevated hepatic transaminase, Diabetes mellitus, Cryptorchidism, Jaundice, Obesity, ... |
OMIM:614231 |
| Moderate Hemophilia A |
|
Arthropathy, Hip contracture, Limitation of joint mobility, Synovitis, Hematuria, Joint swelling,... |
ORPHA:169805 |
| Gamma-Heavy Chain Disease |
|
Hepatomegaly, Skin rash, Splenomegaly, Osteolysis, Rheumatoid arthritis, Neoplasm of the tongue |
ORPHA:100026 |
| Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing... |
ORPHA:79102 |
| Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
| Craniopharyngioma |
|
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu... |
ORPHA:54595 |
| Keppen-Lubinsky Syndrome |
|
Lack of facial subcutaneous fat, Decreased serum leptin, Flexion contracture, Recurrent pneumonia... |
OMIM:614098 |
| Fish-Eye Disease |
|
Splenomegaly, Decreased HDL cholesterol concentration, Hepatomegaly |
ORPHA:79292 |
| Citrullinemia, Classic |
|
Hepatomegaly, Failure to thrive, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication... |
OMIM:215700 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:615356 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hepatomegaly, Pneumonia, Splenomegaly, Amelogenesis imperfecta, Neoplasm, Chronic otitis media, H... |
ORPHA:169090 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Joint laxity, Small for gestational age, Hip subluxation, Delayed epiphyseal ossification, Multip... |
ORPHA:93360 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Hepatic cysts, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hep... |
OMIM:615415 |
| Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Overgrowth, Obesity |
OMIM:620250 |
| Q Fever |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Osteomyelitis, Maculopapular exanthema... |
ORPHA:781 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperglycemia, Mildly elevated creatine kinase, Hyperlipidemia |
OMIM:604484 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Aplasia of the thymus, Pneumonia, Splenomegaly, Erythematous papule, Otitis media, ... |
OMIM:602450 |
| 22Q11.2 Deletion Syndrome |
|
Hypoplasia of the thymus, Hypocalcemia, Vesicoureteral reflux, Chronic otitis media, Hypothyroidi... |
ORPHA:567 |
| Hutchinson-Gilford Progeria Syndrome |
|
Osteoarthritis, Reduced bone mineral density, Papule, Limitation of movement at ankles, Hypermela... |
ORPHA:740 |
| Ogden Syndrome |
|
Congenital hip dislocation, Redundant neck skin, Redundant skin, Maternal diabetes, Cardiomegaly,... |
OMIM:300855 |
| Chops Syndrome |
|
Cryptorchidism, Splenomegaly, Vesicoureteral reflux, Horseshoe kidney, Obesity, Aspiration pneumo... |
OMIM:616368 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Capitate-hamate fusion, Osteoarthritis, Limited elbow extension, Genu valgum |
OMIM:271650 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Elevated hepatic transaminase, Decreased response to growth hormone stimulation tes... |
ORPHA:293987 |
| Neuroendocrine Tumor Of The Rectum |
|
Elevated hepatic transaminase, Hepatomegaly, Weight loss, Increased serum serotonin, Atypical pul... |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Elevated hepatic transaminase, Hepatomegaly, Weight loss, Increased serum serotonin, Atypical pul... |
ORPHA:100082 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Inguinal hernia, Redundant neck skin, Cryptorchidism, Splenomegaly, Pancreatic lymp... |
ORPHA:1655 |
| Porphyria, Congenital Erythropoietic |
|
Osteopenia, Hepatomegaly, Splenomegaly, Jaundice, Red urine, Osteolysis, Corneal scarring, Atypic... |
OMIM:263700 |
| Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss |
ORPHA:99978 |
| Stickler Syndrome, Type I |
|
Arthropathy, Joint stiffness, Osteoarthritis, Arthritis, Disproportionate tall stature, Joint hyp... |
OMIM:108300 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Premature osteoarthritis |
OMIM:184840 |
| Familial Renal Glucosuria |
|
Elevated hemoglobin A1c, Insulin resistance, Abnormal circulating insulin concentration, Renal tu... |
ORPHA:69076 |
| Hyper-Igd Syndrome |
|
Skin rash, Lymphadenitis, Splenomegaly, Hepatosplenomegaly, Arthritis, Chronic oral candidiasis, ... |
OMIM:260920 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Congenital diaphragmatic hernia, Craniosynostosis, Obesity, Failure... |
ORPHA:261197 |
| Shwachman-Diamond Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute myeloid leukemia, Small for gestational age, M... |
OMIM:260400 |
| Glycogen Storage Disease Xii |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Jaundice, Elevate... |
OMIM:611881 |
| Congenital-Onset Steinert Myotonic Dystrophy |
|
Obesity, Decreased body weight |
ORPHA:589821 |
| Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Myositis, Renal insufficiency, Skin rash, Proteinuria, Discoid lupus rash, Hematuria,... |
ORPHA:93552 |
| Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Tubulointerstitial ne... |
OMIM:603860 |
| Listeriosis |
|
Pericarditis, Stiff neck, Osteomyelitis, Pneumonia, Liver abscess, Pustule, Myocarditis, Peritoni... |
ORPHA:533 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Overweight, Obesity, Decreased body weight, Enamel hypoplasia, Dry skin, Joint hypermobility, Ame... |
OMIM:619229 |
| Behçet Disease |
|
Increased inflammatory response, Myositis, Pericarditis, Acne, Renal insufficiency, Orchitis, Ret... |
ORPHA:117 |
| Psoriasis 1, Susceptibility To |
|
Arthritis, Psoriasiform dermatitis |
OMIM:177900 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Episcleritis, Hepatomegaly, Hypergonadotropic hypogonadism, Camptodactyly of finger, Decreased re... |
OMIM:602782 |
| Stickler Syndrome Type 1 |
|
Joint hyperflexibility, Osteoarthritis |
ORPHA:90653 |
| Omenn Syndrome |
|
Hepatomegaly, Pneumonia, Splenomegaly, Hypoplasia of the thymus, Erythroderma, Failure to thrive,... |
OMIM:603554 |
| Cohen Syndrome |
|
Failure to thrive in infancy, Preauricular skin tag, Cryptorchidism, Obesity, Genu valgum, Joint ... |
ORPHA:193 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... |
OMIM:166600 |
| Split Cord Malformation |
|
Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Functional... |
ORPHA:573278 |
| Cystic Fibrosis |
|
Male infertility, Hepatomegaly, Recurrent pneumonia, Bronchiectasis, Hypercalciuria, Biliary cirr... |
OMIM:219700 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Joint laxity, Elevated hepatic transaminase, Failure to thrive, Osteomyelitis, Hypospadias, Overw... |
OMIM:619475 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Delayed epiphyseal ossification, Osteoarthritis |
OMIM:618618 |
| Atelis Syndrome 2 |
|
Sacral dimple, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia |
OMIM:620185 |
| Pmm2-Cdg |
|
Osteopenia, Multiple joint contractures, Elevated circulating thyroid-stimulating hormone concent... |
ORPHA:79318 |
| Spondyloarthropathy, Susceptibility To, 1 |
|
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... |
OMIM:106300 |
| White-Sutton Syndrome |
|
Joint laxity, Congenital diaphragmatic hernia, Obesity, Hypoglycemic seizures, Wormian bones, Fai... |
OMIM:616364 |
| Cystinosis, Nephropathic |
|
Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets... |
OMIM:219800 |
| Scheie Syndrome |
|
Hepatomegaly, Joint stiffness, Splenomegaly, Limitation of joint mobility, Rhinitis, Mucopolysacc... |
ORPHA:93474 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hip contracture, Recurrent pneumonia, Elbow flexion contracture, Obesity, Genu valgum, Finger joi... |
OMIM:618493 |
| Retinitis Pigmentosa 74 |
|
Obesity |
OMIM:616562 |
| Peripartum Cardiomyopathy |
|
Diabetes mellitus, Abnormality of thyroid physiology, Myocarditis, Obesity, Left ventricular hype... |
ORPHA:563 |
| Cohen Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Genu valgum, De... |
OMIM:216550 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Septic arthritis, Recurrent pneumonia, Eczema, Hyperhomocystinemia |
OMIM:617780 |
| Kabuki Syndrome |
|
Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Lip pit, Congenital diaphragmatic ... |
ORPHA:2322 |
| Achondroplasia |
|
Hip joint hypermobility, Obesity, Flat acetabular roof, Knee joint hypermobility, Limited elbow e... |
ORPHA:15 |
| Peroxisome Biogenesis Disorder 1B |
|
Hyperoxaluria, Hepatomegaly, Renal cyst, Epiphyseal stippling, Hepatic fibrosis, Cirrhosis |
OMIM:601539 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... |
OMIM:233710 |
| Neuroendocrine Tumor Of Stomach |
|
Elevated hepatic transaminase, Hepatomegaly, Increased circulating ACTH level, Weight loss, Incre... |
ORPHA:100075 |
| 7Q11.23 Microduplication Syndrome |
|
Sacral dimple, Inguinal hernia, Hypospadias, Craniosynostosis, Tracheomalacia, Unilateral renal a... |
ORPHA:96121 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Inflammatory abnormality of the skin, Diabetes mellitus, Elevated circulating creat... |
ORPHA:565612 |
| Tenorio Syndrome |
|
Osteopenia, Joint laxity, Hypoglycemia, Recurrent pneumonia, Enuresis, Keratoconjunctivitis sicca... |
OMIM:616260 |
| Spondylosis, Cervical |
|
Osteoarthritis |
OMIM:184300 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Osteosclerosis of ribs, Obesity, Genu varum |
ORPHA:174 |
| Diamond-Blackfan Anemia 21 |
|
Obesity, Genu valgum, Nevus, Cubitus valgus, Osteosarcoma |
OMIM:620072 |
| Congenital Pseudoarthrosis Of The Clavicle |
|
Osteoarthritis |
ORPHA:66630 |
| Aortic Aneurysm, Familial Thoracic 12 |
|
Arthritis, Disproportionate tall stature |
OMIM:619825 |
| Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Gout, Hyperuricosuri... |
ORPHA:79233 |
| Loeys-Dietz Syndrome 5 |
|
Reduced subcutaneous adipose tissue, Tall stature, Inguinal hernia, Failure to thrive in infancy,... |
OMIM:615582 |
| Immunodeficiency 31C |
|
Osteopenia, Hepatomegaly, Osteomyelitis, Diabetes mellitus, Eczema, Splenomegaly, Bronchiectasis,... |
OMIM:614162 |
| Gaucher Disease |
|
Osteopenia, Joint dislocation, Increased bone mineral density, Osteomyelitis, Proteinuria, Recurr... |
ORPHA:355 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Adrenal cortical sclerosis, Diffuse mesangial sclerosis, Inflammatory abnormality of the skin, Si... |
OMIM:102700 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Distal symphalangism, Hypospadias, Precocious puberty, Truncal obesity, Type II diabetes mellitus... |
OMIM:210720 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... |
OMIM:233690 |
| Riddle Syndrome |
|
Pneumonia, Elevated circulating alpha-fetoprotein concentration, Recurrent pneumonia, Erythema, E... |
ORPHA:420741 |
| Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Failure to thrive, Hypospadias, Small for gestational age, Abnormality of the pancr... |
OMIM:222470 |
| Vertical Talus, Congenital |
|
Arthritis |
OMIM:192950 |
| Acrocephalopolydactylous Dysplasia |
|
Omphalocele, Hepatomegaly, Pancreatic fibrosis, Craniosynostosis, Hepatic fibrosis, Polysplenia, ... |
OMIM:200995 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10 |
|
Osteoarthritis, Bronchiectasis, Joint hypermobility |
OMIM:620080 |
| Argininemia |
|
Hepatomegaly, Micronodular cirrhosis, Hyperammonemia, Cholestasis, Diaminoaciduria, Portal fibros... |
OMIM:207800 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Renal salt wasting, Elevated circulat... |
OMIM:174000 |
| Momo Syndrome |
|
Overgrowth, Obesity |
OMIM:157980 |
| 8P23.1 Microdeletion Syndrome |
|
Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Obesity, Weight loss |
ORPHA:251071 |
| Pseudoachondroplasia |
|
Joint laxity, Genu recurvatum, Limited hip extension, Ulnar deviation of the wrist, Irregular car... |
OMIM:177170 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Recurrent otitis media, Obesity, Enuresis nocturna |
OMIM:619680 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Chronic oral candidiasis, Splenomegaly, Recurrent aphthous stomatitis, Type I diabe... |
OMIM:301078 |
| Shwachman-Diamond Syndrome |
|
Osteopenia, Sinusitis, Decreased response to growth hormone stimulation test, Pancreatic hypoplas... |
ORPHA:811 |
| Kleefstra Syndrome 1 |
|
Hypospadias, Cryptorchidism, Obesity, Micropenis, Tracheobronchomalacia |
OMIM:610253 |
| Rabin-Pappas Syndrome |
|
Hyponatremia, Failure to thrive in infancy, Obesity, Overgrowth, Tracheomalacia |
OMIM:620155 |
| Multiple Epiphyseal Dysplasia Type 5 |
|
Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Decreased hip abd... |
ORPHA:93311 |
| Reactive Arthritis |
|
Pericarditis, Osteomyelitis, Joint stiffness, Pustule, Enthesitis, Weight loss, Arthritis, Inflam... |
ORPHA:29207 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta... |
ORPHA:309854 |
| Retinal Dystrophy With Or Without Macular Staphyloma |
|
Truncal obesity |
OMIM:617547 |
| Argininosuccinic Aciduria |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... |
OMIM:207900 |
| X-Linked Hypophosphatemia |
|
Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Sacroiliac joint synovitis, Limita... |
ORPHA:89936 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Hepatocellular necrosis, Hepatosple... |
OMIM:618278 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Hypospadias, Hypothyroidism, Splenomegaly, Weight loss, Hepatosplenomegaly, Unconju... |
OMIM:613673 |
| Alkaptonuria |
|
Arthropathy, Vertebral fusion, Elevated urinary homogentisic acid, Nephrolithiasis, Limited shoul... |
OMIM:203500 |
| Kawasaki Disease |
|
Pericarditis, Skin rash, Proteinuria, Myocarditis, Jaundice, Hepatitis, Cheilitis, Sterile pyuria... |
ORPHA:2331 |
| Methanol Poisoning |
|
Type I diabetes mellitus, Hyperlipidemia, Type II diabetes mellitus |
ORPHA:31825 |
| Agammaglobulinemia, X-Linked |
|
Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, Bronchiectasis, Pyoderma, ... |
OMIM:300755 |
| Tetrasomy 9P |
|
Joint dislocation, Absent gallbladder, Myositis, Sacral dimple, Pericarditis, Abnormal dental ena... |
ORPHA:3310 |
| Wagro Syndrome |
|
Proteinuria, Multiple exostoses, Obesity, Nephroblastoma, Decreased testicular size |
OMIM:612469 |
| Angelman Syndrome Due To A Point Mutation |
|
Obesity |
ORPHA:411511 |
| Charcot-Marie-Tooth Disease Type 4B2 |
|
Penetrating foot ulcers |
ORPHA:99956 |
| Williams Syndrome |
|
Osteopenia, Hypoplasia of penis, Redundant skin, Elevated circulating creatine kinase concentrati... |
ORPHA:904 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Precocious puberty, Hypopigmented skin patches, Joint hyperflexibility, Truncal obesity, Multiple... |
ORPHA:2637 |
| Neuroendocrine Neoplasm Of Appendix |
|
Elevated hepatic transaminase, Hepatomegaly, Ileal adenocarcinoma, Adrenocorticotropic hormone ex... |
ORPHA:100079 |
| Williams-Beuren Syndrome |
|
Osteopenia, Flexion contracture, Nephrocalcinosis, Glucose intolerance, Early onset of sexual mat... |
OMIM:194050 |
| Immunodeficiency 85 And Autoimmunity |
|
Oligoarthritis, Eczema, Failure to thrive in infancy, Erythroderma |
OMIM:619510 |
| Microcephalic Primordial Dwarfism, Dauber Type |
|
Abnormal carpal morphology, Obesity, Primary amenorrhea, Madelung deformity |
ORPHA:319675 |
| Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Truncal obesity |
ORPHA:3224 |
| Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Congenital diaphragmatic h... |
ORPHA:373 |
| Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Obesity, Neonatal hypoglycemia |
OMIM:608624 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Arthritis, Mildly elevated creatine kinase |
ORPHA:397744 |
| Kikuchi-Fujimoto Disease |
|
Macule, Erythematous macule, Hepatomegaly, Elevated hepatic transaminase, Skin rash, Elevated cir... |
ORPHA:50918 |
| Desbuquois Dysplasia 2 |
|
Joint laxity, Radial head subluxation, Hip dislocation, Advanced ossification of carpal bones, Fl... |
OMIM:615777 |
| Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Urinary incontinence, Hepatic steatosis, Joint contracture of the 5th finger |
OMIM:619934 |
| Sickle Cell Disease |
|
Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Hema... |
OMIM:603903 |
| Behcet Syndrome |
|
Erythema nodosum, Iridocyclitis, Epididymitis, Erythema, Arthritis, Iritis, Decreased level of D-... |
OMIM:109650 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Diabetes mellitus, Anuria, Pneumonia, Myocarditis, Hyperkalemia, Oliguria, Decrease... |
ORPHA:544482 |
| Complement Factor I Deficiency |
|
Renal insufficiency, Recurrent skin infections, Glomerulonephritis, Pyelonephritis, Recurrent sin... |
OMIM:610984 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Joint dislocation, Inguinal hernia, Abnormality of the menstrual cycle, Elbow dislocation, Osteoa... |
ORPHA:285 |
| Marburg Hemorrhagic Fever |
|
Elevated hepatic transaminase, Pericarditis, Renal insufficiency, Skin rash, Maculopapular exanth... |
ORPHA:99826 |
| Hereditary Fructose Intolerance |
|
Hepatomegaly, Renal insufficiency, Reactive hypoglycemia, Jaundice, Chronic kidney disease, Hyper... |
ORPHA:469 |
| Fabry Disease |
|
Renal insufficiency, Proteinuria, Hyperlipidemia, Subcutaneous nodule, Reduced bone mineral densi... |
ORPHA:324 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Limitation of movement at ankles, Obesity |
ORPHA:98794 |
| White-Sutton Syndrome |
|
Joint laxity, Ventral hernia, Inguinal hernia, Congenital diaphragmatic hernia, Obesity |
ORPHA:468678 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Obesity |
OMIM:617296 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Inguinal hernia, Cryptorchidism, Obesity, Vesicoureteral reflux, Micropenis, Pelvic kidney, Hydro... |
OMIM:618653 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Splenomegaly, Hepatomegaly, Jaundice, Hyperbilirubinemia |
OMIM:616689 |
| Angelman Syndrome |
|
Obesity |
OMIM:105830 |
| Granulomatous Disease, Chronic, X-Linked |
|
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... |
OMIM:306400 |
| Noonan Syndrome 1 |
|
Male infertility, Juvenile myelomonocytic leukemia, Hypospadias, Failure to thrive in infancy, Cr... |
OMIM:163950 |
| Alkaptonuria |
|
Joint dislocation, Joint stiffness, Osteoarthritis, Nephrolithiasis, Reduced bone mineral density... |
ORPHA:56 |
| Angelman Syndrome |
|
Delayed menarche, Precocious puberty in females, Obesity |
ORPHA:72 |
| Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Splenomegaly, Jaundice, Hyperbilirubinemia, Prolonged neonatal jaundice |
OMIM:185000 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Joint laxity, Delayed epiphyseal ossification, Premature osteoarthritis, Hepatosplenomegaly, Gene... |
ORPHA:93352 |
| Classical Ehlers-Danlos Syndrome |
|
Osteopenia, Incisional hernia, Osteoarthritis, Generalized joint laxity, Shoulder dislocation, Ec... |
ORPHA:287 |
| 3Q29 Microduplication Syndrome |
|
Camptodactyly of toe, Obesity, Craniosynostosis |
ORPHA:251038 |
| Otospondylomegaepiphyseal Dysplasia |
|
Abnormally ossified vertebrae, Enlarged joints, Abnormal joint morphology, Osteoarthritis, Limita... |
ORPHA:1427 |
| Rubinstein-Taybi Syndrome 1 |
|
Premature thelarche, Bilateral cryptorchidism, Flexion contracture, Papillary cystadenoma of the ... |
OMIM:180849 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Joint laxity, Hypospadias, Pneumonia, Cryptorchidism, Pilomatrixoma, Nephrolithiasis, Obesity, Sp... |
ORPHA:353281 |
| White-Kernohan Syndrome |
|
Joint laxity, Hydroureter, Obesity, Horseshoe kidney, Metopic synostosis, Recurrent otitis media,... |
OMIM:619426 |
| African Trypanosomiasis |
|
Erythematous macule, Urinary incontinence, Conjunctivitis, Iritis, Hepatomegaly, Abnormality of t... |
ORPHA:3385 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Joint laxity, Obesity, Genu valgum, Recurrent otitis media, Carpal bone hypoplasia, Genu varum |
OMIM:250420 |
| 17Q24.2 Microdeletion Syndrome |
|
Failure to thrive in infancy, Decreased response to growth hormone stimulation test, Vesicoureter... |
ORPHA:529962 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Osteopenia, Psoriasiform dermatitis, Unilateral renal agenesis, Arthritis, Chronic oral candidias... |
ORPHA:221139 |
| Sarcoidosis |
|
Subcutaneous nodule, Uveitis, Nephrocalcinosis, Tubulointerstitial nephritis, Hypothyroidism, Hep... |
ORPHA:797 |
| Aneurysm-Osteoarthritis Syndrome |
|
Joint laxity, Osteoarthritis of the small joints of the hand, Striae distensae, Uterine prolapse,... |
ORPHA:284984 |
| Aapoaiv Amyloidosis |
|
Diabetes mellitus, Proteinuria, Abnormal renal medulla morphology, Hyperlipidemia, Chronic kidney... |
ORPHA:439232 |
| Acromegaly |
|
Diabetes mellitus, Acne, Hypogonadotropic hypogonadism, Elevated circulating growth hormone conce... |
ORPHA:963 |
| Woodhouse-Sakati Syndrome |
|
Decreased serum insulin-like growth factor 1, Diabetes mellitus, Hypogonadotropic hypogonadism, H... |
OMIM:241080 |
| Helsmoortel-Van Der Aa Syndrome |
|
Joint laxity, Decreased response to growth hormone stimulation test, Cryptorchidism, Obesity, Pin... |
OMIM:615873 |
| Loeys-Dietz Syndrome 6 |
|
Knee osteoarthritis, Disproportionate tall stature, Hip osteoarthritis, Striae distensae, Interve... |
OMIM:619656 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Hypospadias, Small for gestational age, Cryptorchidism, Urolithiasis, Gout, ... |
OMIM:300661 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Dislocation of the femoral head, Joint stiffness, Flexion contracture, Delayed femoral head ossif... |
ORPHA:93307 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Arthritis, Cervical subluxation |
OMIM:184100 |
| Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Iridocyclitis, Splenomegaly, Bronchiectasis, Uveitis, Hypercalciuria, Weight loss, ... |
OMIM:181000 |
| Hemophilia A |
|
Osteoarthritis, Joint hemorrhage |
OMIM:306700 |
| Combined Deficiency Of Factor V And Factor Viii |
|
Hyperlipidemia, Hematuria, Menorrhagia, Hyperuricemia, Joint hemorrhage |
ORPHA:35909 |
| Hemophilia B |
|
Osteoarthritis, Joint hemorrhage |
OMIM:306900 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Inguinal hernia, Camptodactyly of finger, Heparan sulfate excretion in urine, Splenomegaly, Local... |
ORPHA:217085 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Inguinal hernia, Ketonuria, Hypospadias, Hypoglycemia, Small for gestational age, Increased hepat... |
OMIM:220111 |
| Xq21 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi... |
ORPHA:1435 |
| Prader-Willi Syndrome Due To Translocation |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Anterior pi... |
ORPHA:177907 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Inguinal hernia, Camptodactyly of finger, Heparan sulfate excretion in urine, Splenomegaly, Local... |
ORPHA:217093 |
| Somatomammotropinoma |
|
Tall stature, Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulatin... |
ORPHA:314769 |
| Reynolds Syndrome |
|
Calcinosis, Hepatomegaly, Elevated hepatic transaminase, Erythema nodosum, Splenomegaly, Jaundice... |
OMIM:613471 |
| Immunodeficiency 68 |
|
Lymphadenitis, Recurrent skin infections, Septic arthritis |
OMIM:612260 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Overweight, Obesity |
ORPHA:2822 |
| Aspartylglucosaminuria |
|
Hepatomegaly, Inguinal hernia, Aspartylglucosaminuria, Macroorchidism, Joint stiffness, Splenomeg... |
ORPHA:93 |
| Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Failure to thrive, Eczema, Seborrheic dermatitis, Obesity, Enuresis, Abnormality of the pineal gland |
ORPHA:369950 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Osteomyelitis, Elevated circulating C-reactive protein concentration, Obesity, Inflammation of th... |
ORPHA:70591 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Skin rash, Elevated circulating C-reactive protein concentration, Perianal abs... |
OMIM:301074 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Abnormal acetabulum morphology, Limb joint contracture, Abnormal enchondral ossification, Delayed... |
ORPHA:93314 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Minimal change glomerulonephritis, Hyperlipidemia, Chronic kidney disease, Stage 5 chronic kidney... |
ORPHA:567546 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Wormian bones, Hypospadias, Decreased response to growth hormone stimulation test, Vesicoureteral... |
ORPHA:444077 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Sacral dimple, Redundant neck skin, Eczema, Cubitus valgus, Pseudohypoparathyroidism, Renal hypop... |
OMIM:617157 |
| Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Nevus flammeus, Cryptorchidism, Obesity |
OMIM:616078 |
| Homozygous Familial Hypercholesterolemia |
|
Tendon xanthomatosis, Hyperlipidemia, Increased LDL cholesterol concentration, Xanthomatosis, Ren... |
ORPHA:391665 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Premature osteoarthritis, Enlarged joints, Flexion contracture, Recurrent pneumonia |
OMIM:215150 |
| Multiple Osteochondromas |
|
Osteochondroma, Abnormality of the knee, Chondrosarcoma, Limitation of joint mobility, Abnormal c... |
ORPHA:321 |
| Johanson-Blizzard Syndrome |
|
Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypocalcemia, Micropenis, Aplasia cutis congenit... |
OMIM:243800 |
| Osteogenesis Imperfecta |
|
Osteopenia, Osteoarthritis, Flexion contracture, Decreased skull ossification, Dislocated radial ... |
ORPHA:666 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Osteoarthritis, Limited elbow extension, Genu varum |
OMIM:602111 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Dilatation of renal calices, Truncal obesity, Pelvic kidney, Obesity |
ORPHA:466950 |
| Monosomy 22Q13.3 |
|
Sacral dimple, Recurrent skin infections, Obesity, Vesicoureteral reflux, Umbilical hernia, Recur... |
ORPHA:48652 |
| Idiopathic Camptocormia |
|
Myositis, Elevated circulating creatine kinase concentration, Osteoarthritis, Abnormal inflammato... |
ORPHA:1320 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Knee dislocation, Hypoa... |
OMIM:619534 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,... |
OMIM:235400 |
| Myhre Syndrome |
|
Vertebral fusion, Small for gestational age, Joint stiffness, Cryptorchidism, Limitation of joint... |
OMIM:139210 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Joint laxity, Hypospadias, Pneumonia, Cryptorchidism, Pilomatrixoma, Nephrolithiasis, Obesity, Co... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Joint laxity, Hypospadias, Pneumonia, Cryptorchidism, Pilomatrixoma, Nephrolithiasis, Obesity, Co... |
ORPHA:353277 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Inguinal hernia, Obesity |
OMIM:614947 |
| Loeys-Dietz Syndrome 3 |
|
Joint laxity, Dermal translucency, Striae distensae, Uterine prolapse, Inguinal hernia, Protrusio... |
OMIM:613795 |
| Adnp Syndrome |
|
Joint laxity, Inguinal hernia, Urinary incontinence, Cryptorchidism, Truncal obesity, Umbilical h... |
ORPHA:404448 |
| Trichorhinophalangeal Syndrome, Type I |
|
Osteopenia, Osteoarthritis, Ivory epiphyses of the distal phalanges of the hand |
OMIM:190350 |
| Hunter-Macdonald Syndrome |
|
Inguinal hernia, Hypospadias, Premature osteoarthritis, Umbilical hernia, Meningioma, Camptodacty... |
OMIM:611962 |
| Carpenter Syndrome 2 |
|
Craniosynostosis, Bilateral cryptorchidism, Cryptorchidism, Obesity, Cutis laxa, Knee flexion con... |
OMIM:614976 |
| Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Dilatation of renal calices, Pelvic kidney, Obesity |
ORPHA:466943 |
| Marfan Syndrome |
|
Reduced subcutaneous adipose tissue, Striae distensae, Tall stature, Genu recurvatum, Protrusio a... |
OMIM:154700 |
| Mucopolysaccharidosis Type 2 |
|
Hepatomegaly, Inguinal hernia, Splenomegaly, Limitation of joint mobility, Abnormal epiphyseal os... |
ORPHA:580 |
| 6Q Terminal Deletion Syndrome |
|
Joint laxity, Prominent metopic ridge, Hypospadias, Phimosis, Obesity, Failure to thrive |
ORPHA:75857 |
| Witteveen-Kolk Syndrome |
|
Joint laxity, Inguinal hernia, Unilateral cryptorchidism, Decreased response to growth hormone st... |
OMIM:613406 |
| Marshall Syndrome |
|
Osteoarthritis, Genu valgum |
ORPHA:560 |
| Stickler Syndrome |
|
Joint dislocation, Protrusio acetabuli, Cachexia, Abnormal dental enamel morphology, Osteoarthrit... |
ORPHA:828 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Fasciitis, Osteomyelitis, Neuropathic arthropathy, Chronic kidney disease, Corneal scarring, Pain... |
ORPHA:642 |
| Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal insufficiency, Congenital d... |
ORPHA:199 |
| 1P21.3 Microdeletion Syndrome |
|
Obesity |
ORPHA:293948 |
| Ulnar-Mammary Syndrome |
|
Ectopic posterior pituitary, Inguinal hernia, Anterior pituitary hypoplasia, Elbow flexion contra... |
OMIM:181450 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Hip osteoarthritis, Limitation of joint mobility |
OMIM:313400 |
| Systemic Lupus Erythematosus |
|
Proteinuria, Lupus nephritis, Pyuria, Discoid lupus rash, Cheilitis, Hematuria, Arthritis, Malar ... |
ORPHA:536 |
| Primrose Syndrome |
|
Hip contracture, Diabetes mellitus, Hypergonadotropic hypogonadism, Joint hypermobility, Elevated... |
OMIM:259050 |
| Choreoacanthocytosis |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
ORPHA:2388 |
| Vascular Ehlers-Danlos Syndrome |
|
Joint dislocation, Congenital hip dislocation, Redundant skin, Osteoarthritis, Subcutaneous nodul... |
ORPHA:286 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Hypospadias, Camptodactyly of finger, Delayed closure of the anterior fontanelle, Ectopic kidney,... |
OMIM:607872 |
| Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Hypospadias, Cryptorchidism, Renal hypoplasia, Obesity, Genu valgum, Hypogonadism, Vesicoureteral... |
OMIM:309580 |
| Lacrimoauriculodentodigital Syndrome |
|
Abnormal dental enamel morphology, Cryptorchidism, Renal hypoplasia, Keratoconjunctivitis, Arthri... |
ORPHA:2363 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Joint laxity, Prominent metopic ridge, Truncal obesity, Camptodactyly, Palmoplantar erythema, Fai... |
OMIM:612474 |
| Tako-Tsubo Cardiomyopathy |
|
Obesity, Mildly elevated creatine kinase, Abnormal B-type natriuretic peptide concentration |
ORPHA:66529 |
| Pallister-Killian Syndrome |
|
Omphalocele, Sacral dimple, Congenital hip dislocation, Hypospadias, Inguinal hernia, Congenital ... |
OMIM:601803 |
| Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Arthritis, Osteolytic defects of the phalanges of the hand, Foot acroosteolysis |
OMIM:161700 |
| Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
|
Osteoarthritis |
OMIM:619714 |
