| Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Delayed puberty, Insulin resistance, Decreased serum insulin-like growth factor 1, Truncal obesity |
ORPHA:140941 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Hepatic steatosis, Decreased serum leptin, Lipodystrophy, Decreased adiponect... |
ORPHA:79085 |
| Moynahan Syndrome |
|
Alopecia, Short stature, Hypogonadism, Cachexia, Sparse hair |
ORPHA:2574 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Loss of gluteal subcutaneous adipose tissue, Insulin resistance, Increased adipose tissue around ... |
ORPHA:435660 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Loss of gluteal subcutaneous adipose tissue, Loss of facial adipose tissue, Hepatic steatosis, De... |
ORPHA:435651 |
| Crigler-Najjar Syndrome Type 2 |
|
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia |
ORPHA:79235 |
| Multiple Symmetric Lipomatosis |
|
Multiple lipomas, Insulin resistance, Gait disturbance, Hepatomegaly, Abnormal adipose tissue mor... |
ORPHA:2398 |
| Dentin Dysplasia, Type I |
|
Enamel hypoplasia, Microdontia, Oligodontia, Taurodontia, Pulp obliteration, Periapical bone loss... |
OMIM:125400 |
| Regional Odontodysplasia |
|
Gingivitis, Delayed eruption of teeth, Pulp calcification, Alveolar ridge overgrowth, Short denta... |
ORPHA:83450 |
| Transient Neonatal Diabetes Mellitus |
|
Hypothyroidism, Transient neonatal diabetes mellitus, Abnormality of the urinary system, Diabetic... |
ORPHA:99886 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Diabetic ketoacidosis, Hepatic steatosis, Decreased serum leptin, Lipodystrophy, Decreased adipon... |
OMIM:615238 |
| Amelogenesis Imperfecta, Type Ij |
|
Enamel hypoplasia, Widely spaced teeth, Carious teeth, Amelogenesis imperfecta, Increased overbite |
OMIM:617297 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
|
Amelogenesis imperfecta, Enamel hypomineralization, Hypomature dental enamel |
OMIM:613211 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperinsulinemia, Elevated hepatic transaminase, Polyphagia, Hyperlipidemia, Hyperglycemia, Obesity |
ORPHA:329249 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Increased facial adipose tissue, Loss of gluteal subcutaneous adipose tissue, Increased adipose t... |
OMIM:608600 |
| Type 2 Diabetes Mellitus |
|
Type II diabetes mellitus, Insulin resistance, Increased waist to hip ratio |
OMIM:125853 |
| Insulin Autoimmune Syndrome |
|
Weight loss, Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive... |
ORPHA:411593 |
| Amelogenesis Imperfecta |
|
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Widely spa... |
ORPHA:88661 |
| Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Hyperinsulinemia, Cirrhosis, Loss of gluteal subcutaneous adipose tissue, Type II diabetes mellit... |
OMIM:604367 |
| Growth Hormone Insensitivity Syndrome |
|
Hypercholesterolemia, Diabetes insipidus, Hypogonadism, Type II diabetes mellitus, Insulin resist... |
ORPHA:181393 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:613370 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Enamel hypomineralization, Carious teeth, Amelogenesis imperfecta, Anterior open-bite malocclusio... |
OMIM:204700 |
| Mody |
|
Pancreatic hypoplasia, Transient neonatal diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis... |
ORPHA:552 |
| Otodental Dysplasia |
|
Enamel hypoplasia, Long philtrum, Coloboma, Delayed eruption of teeth, Pulp calcification, Taurod... |
OMIM:166750 |
| Amelogenesis Imperfecta, Type Iiib |
|
Amelogenesis imperfecta, Enamel hypomineralization |
OMIM:617607 |
| Jaundice, Familial Obstructive, Of Infancy |
|
Neonatal hyperbilirubinemia |
OMIM:308600 |
| Crigler-Najjar Syndrome, Type Ii |
|
Unconjugated hyperbilirubinemia |
OMIM:606785 |
| Hyperbilirubinemia, Conjugated, Type Iii |
|
Conjugated hyperbilirubinemia |
OMIM:237550 |
| Hyperbilirubinemia, Transient Familial Neonatal |
|
Neonatal unconjugated hyperbilirubinemia |
OMIM:237900 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion |
OMIM:617217 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Diabetes mellitus, Hepatomegaly, Lipoatr... |
ORPHA:79084 |
| Hypercholanemia, Familial, 2 |
|
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:619256 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Mahvash Disease |
|
Recurrent pancreatitis, Type II diabetes mellitus, Pancreatic alpha-cell hyperplasia, Increased g... |
OMIM:619290 |
| Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Dentinogenesis imperfecta, Odontodysplasia, Periapical bone loss, Anterior op... |
OMIM:125500 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Splenomegaly, Increased facial adipose tissue, Minimal subcutaneous fat, Reduced subcutaneous adi... |
ORPHA:280365 |
| Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Enamel hypoplasia, Generalized microdontia, Taurodontia, Amelogenesis imperfecta |
OMIM:104530 |
| Type 1 Diabetes Mellitus |
|
Diabetes mellitus, Polyuria, Polyphagia, Hyperglycemia, Polydipsia |
OMIM:222100 |
| Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition |
OMIM:114700 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Anemia, Hypersplenism, Chronic fatigue, Hepatomegaly, Hypocholesterolemia, Thrombocytopenia, Sple... |
OMIM:610539 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis, Hypoketotic hypoglycemia, Hepatic failure, Hypothermia, Elevated hepatic transaminase, ... |
ORPHA:159 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Hyperglycemia, Transient neonatal diabetes mellitus, Severe failure to thrive |
OMIM:601410 |
| Glutathione Peroxidase Deficiency |
|
Neonatal hyperbilirubinemia |
OMIM:614164 |
| Edinburgh Malformation Syndrome |
|
U-Shaped upper lip vermilion, Neonatal hyperbilirubinemia |
OMIM:129850 |
| Cortisone Reductase Deficiency 1 |
|
Alopecia, Precocious puberty, Infertility, Hirsutism, Oligomenorrhea, Obesity |
OMIM:604931 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased B cell count, Elevated circulating alanine aminotransferase concentration, Absent isohe... |
OMIM:615559 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Hyperbilirubinemia |
OMIM:618660 |
| Amelogenesis Imperfecta, Type Iiia |
|
Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion |
OMIM:130900 |
| Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Insulin resistance, Obesity, Hepatic steatosis, Hypercholesterolemia, ... |
OMIM:615703 |
| Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia |
OMIM:237450 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Insulin resistance, Hepatosplenomegaly, Hepatic steatosis, D... |
OMIM:612526 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Hyperinsulinemia, Hypertriglyceridemia, Increased serum leptin, Insulin resistance, Polyphagia, H... |
OMIM:617885 |
| Gcgr-Related Hyperglucagonemia |
|
Increased glucagon level, Neoplasm of the pancreas, Stomatitis, Diabetes mellitus, Abnormal bilia... |
ORPHA:438274 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Gait ataxia, Hyperinsulinemia, Cirrhosis, Hyperactivity, Reduced intraabdominal adipose tissue, R... |
ORPHA:363400 |
| Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Increased serum bile acid concentration, Abnormal circulating bilirubin concentration |
OMIM:619874 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Diabetes Mellitus, Ketosis-Prone |
|
Diabetes mellitus, Beta-cell dysfunction, Insulin resistance |
OMIM:612227 |
| Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Taurodontia, Amelogenesis imperfecta, Anterior open-bite malocclusion,... |
OMIM:204650 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism |
OMIM:307500 |
| Acquired Partial Lipodystrophy |
|
Lymphocytosis, Insulin resistance, Arthralgia, Hepatic steatosis, Myopathy, Lipoatrophy |
ORPHA:79087 |
| Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
OMIM:237500 |
| Crigler-Najjar Syndrome, Type I |
|
Unconjugated hyperbilirubinemia |
OMIM:218800 |
| Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, ... |
OMIM:616221 |
| Idiopathic Congenital Hypothyroidism |
|
Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati... |
ORPHA:95717 |
| Riboflavin Deficiency |
|
Hypothermia, Hypoglycemia, Lethargy, Dicarboxylic aciduria |
OMIM:615026 |
| Immunodeficiency 105 |
|
Increased B cell count, Reduced natural killer cell count, Decreased circulating total IgM, T lym... |
OMIM:619924 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hyperinsulinemia, Precocious puberty, Diabetic ketoacidosis, Small for gestational age, Long peni... |
OMIM:262190 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... |
ORPHA:171706 |
| Cortisone Reductase Deficiency 2 |
|
Obesity, Insulin resistance, Premature pubarche |
OMIM:614662 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Hypomature enamel, Anterior open-bite malocclusion, Amelogenesis imperfecta, Yellow-brown discolo... |
OMIM:612529 |
| Amelogenesis Imperfecta, Type Iiic |
|
Amelogenesis imperfecta, Hypocalcification of dental enamel, Anterior open-bite malocclusion, Yel... |
OMIM:618386 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Childhood-onset truncal obesity, Hypertriglyceridemia, Increased adipose tissue... |
ORPHA:71529 |
| Primary Condylar Hyperplasia |
|
Abnormal mandible condylar process morphology, Anterior open-bite malocclusion, Macrodontia, Abno... |
ORPHA:477781 |
| Diabetes Mellitus, Permanent Neonatal, 2 |
|
Hyperglycemia, Flexion contracture, Type I diabetes mellitus |
OMIM:618856 |
| Dental Ankylosis |
|
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology |
ORPHA:1077 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Insulin resistance, Hepatic steatosis, Lipodystrophy, Insulin-resistant diabetes mellitus, Lipoat... |
OMIM:613877 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
|
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:614832 |
| Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Micrognathia, Multiple unerupted teeth, Crowded maxillary incisors, Stillbirth |
OMIM:183300 |
| Oligodontia |
|
Delayed eruption of teeth, Microdontia, Taurodontia, Abnormality of primary molar morphology, Sho... |
ORPHA:99798 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hyperbilirubinemia, Increased serum bile acid concentration, Conjugated hyperbilirubinemia |
OMIM:620010 |
| 2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypothermia, Hypoglycemia, Lethargy, 2-ethylhydracylic aciduria |
OMIM:610006 |
| Renal Hypoplasia, Bilateral |
|
Vesicoureteral reflux, Beta 2-microglobulinuria, Glycosuria, Small for gestational age, Chronic k... |
ORPHA:97362 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Ketotic hypoglycemia, Small for gestational age, Mate... |
ORPHA:324575 |
| Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Enamel hypoplasia, Abnormality of dental color, Amelogenesis imperfecta |
OMIM:616270 |
| Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2 |
|
Amelogenesis imperfecta |
OMIM:301201 |
| Amelogenesis Imperfecta, Type Ib |
|
Amelogenesis imperfecta |
OMIM:104500 |
| Cleft Palate, Isolated |
|
Micrognathia, Cleft palate, Increased overbite, Gingival overgrowth, Anterior open-bite malocclusion |
OMIM:119540 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:615887 |
| Crandall Syndrome |
|
Sparse body hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Pili torti, Hypogonadism, Abnormal... |
ORPHA:202 |
| Maturity-Onset Diabetes Of The Young, Type 11 |
|
Obesity, Overweight, Maturity-onset diabetes of the young |
OMIM:613375 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... |
OMIM:256450 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Hyperinsulinemia, Childhood-onset truncal obesity, Decreased response to growth hormone stimulati... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hyperinsulinemia, Childhood-onset truncal obesity, Decreased response to growth hormone stimulati... |
ORPHA:71526 |
| Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus, Unsteady gait |
OMIM:520000 |
| Familial Thyroid Dyshormonogenesis |
|
Thyroid defect in oxidation and organification of iodide, Increased radioactive iodine uptake, Po... |
ORPHA:95716 |
| Familial Renal Glucosuria |
|
Recurrent urinary tract infections, Glycosuria, Insulin resistance, Nephropathy, Hyperglycemia, E... |
ORPHA:69076 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Insulin resistance, Hepatic steatosis, Diabetes mellitus, Lipodystrophy, Hyperlipidemia, Abdomina... |
OMIM:615980 |
| Amelogenesis Imperfecta, Type Ie |
|
Enamel hypoplasia, Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dentin morp... |
OMIM:301200 |
| Insulin-Resistance Syndrome Type B |
|
Biliary cirrhosis, Decreased body weight, Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia... |
ORPHA:2298 |
| Amelogenesis Imperfecta, Type Iv |
|
Enamel hypoplasia, Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:104510 |
| Multiple Endocrine Neoplasia Type 4 |
|
Pituitary corticotropic cell adenoma, Diarrhea, Parathyroid adenoma, Hyperinsulinemic hypoglycemi... |
ORPHA:276152 |
| Rotor Syndrome |
|
Hyperbilirubinemia, Conjugated hyperbilirubinemia |
ORPHA:3111 |
| Zollinger-Ellison Syndrome |
|
Pituitary corticotropic cell adenoma, Diarrhea, Pituitary null cell adenoma, Intestinal obstructi... |
ORPHA:913 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... |
OMIM:615954 |
| Dentin Dysplasia, Type Ii |
|
Abnormal dentin morphology, Pulp calcification, Dentinogenesis imperfecta limited to primary teeth |
OMIM:125420 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancrea... |
OMIM:601820 |
| Diencephalic Syndrome |
|
Cachexia, Decreased body weight, Abnormality of the hypothalamus-pituitary axis, Long penis |
ORPHA:1672 |
| Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Hypercholesterolemia, Hyperinsulinemia, Increased facial adipose tissue, Type II diabetes mellitu... |
OMIM:151660 |
| 46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Abnormal circulating corticosterone level, Primary amenorrhea, Hypoplasia of the uterus, Decrease... |
ORPHA:90796 |
| Essential Fructosuria |
|
Hyperglycemia, Abnormal urine carbohydrate level |
ORPHA:2056 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypothermia, Large for gestationa... |
ORPHA:226313 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Ketonuria, Glycosuria, Small for gestational age, Type I diabetes mellitus, Hyperglycemia, Athetosis |
OMIM:618857 |
| Crigler-Najjar Syndrome Type 1 |
|
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia |
ORPHA:79234 |
| Autoimmune Lymphoproliferative Syndrome |
|
Coombs-positive hemolytic anemia, Hepatocellular carcinoma, Reticulocytosis, Neoplasm of the skin... |
ORPHA:3261 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, B lymphocytopenia, Arthralgia, Lipodystrophy, Failure to thrive, Lymphad... |
OMIM:618048 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Maternal diabetes, Type I diabetes mellitus, Hyperins... |
ORPHA:276580 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperinsulinemia, Flexion contracture, Stage 5 chronic kidney disease, Decreased adipose tissue a... |
OMIM:608612 |
| Donohue Syndrome |
|
Hepatic fibrosis, Hyperinsulinemia, Precocious puberty, Adipose tissue loss, Long penis, Postpran... |
OMIM:246200 |
| Mitochondrial Myopathy With Diabetes |
|
Weakness of orbicularis oculi muscle, Type II diabetes mellitus, Elevated circulating creatine ki... |
OMIM:500002 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Hyperbilirubinemia |
OMIM:179700 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Anemia, Flexion contracture, Increased circulating antibody level, Elevated hepatic transaminase,... |
OMIM:617591 |
| Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased B cell count, Increased proportion of memory T cells, Hepatosplenomegaly, Increased cir... |
OMIM:618982 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... |
OMIM:616452 |
| Fanconi-Bickel Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Abnormal hepatic gl... |
ORPHA:2088 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Myelodysplasia, Acute lymphoblastic leukemia, Hepatocellular carcinoma, E... |
ORPHA:158057 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Agitation, Reactive hy... |
ORPHA:276608 |
| Congenital Generalized Lipodystrophy |
|
Precocious puberty in females, Hyperinsulinemia, Cirrhosis, Insulin resistance, Adipose tissue lo... |
ORPHA:528 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Hepatic fibrosis, Loss of gluteal subcutaneous adipose tissue, Insulin-resistan... |
ORPHA:280356 |
| Otodental Syndrome |
|
Abnormal molar morphology, Odontoma, Long philtrum, Periodontitis, Delayed eruption of teeth, Pul... |
ORPHA:2791 |
| Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia, Ataxia |
OMIM:618970 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Chronic noninfectious lymphadenopathy, Increased B cell count, Splenomegaly, Elevated proportion ... |
OMIM:603909 |
| Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Elevated circulating alanine aminotransferase concentration, Hypothermia, Elevated circulating as... |
OMIM:245400 |
| Mandibuloacral Dysplasia |
|
Hyperinsulinemia, Increased circulating free fatty acid level, Contractures of the large joints, ... |
ORPHA:2457 |
| Sepsis In Premature Infants |
|
Cyanosis, Vomiting, Enterocolitis, Diarrhea, Decreased body weight, Small for gestational age, Ja... |
ORPHA:90051 |
| Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Anemia, Arthralgia, Increased LDL cholesterol concentration, Decreased HD... |
OMIM:607616 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Hypertriglyceridemia, Decreased serum estradiol, Absence of secondary sex chara... |
ORPHA:66628 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Lymphoma, Splenomegaly, Hemolytic anemia, Leukemia, Increased circulating antibody level, Lymphoc... |
OMIM:614470 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Large for gestational age, Neonatal hypoglycemia, Truncal obesity |
OMIM:240900 |
| Amelogenesis Imperfecta, Type Ik |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:620104 |
| Acute Lung Injury |
|
Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor secretion... |
ORPHA:178320 |
| Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Alveolar process hypoplasia, Delayed eruption of teeth, Hypodontia, Abnormality of dental morphol... |
ORPHA:2972 |
| Renpenning Syndrome |
|
Alopecia, Decreased testicular size, Thin eyebrow, Cachexia, Diabetes mellitus, Hypospadias, Seve... |
ORPHA:3242 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Increased serum bile acid concentration, Hypercholesterolemia, Conjuga... |
OMIM:619868 |
| Mulibrey Nanism |
|
Cachexia, Intrauterine growth retardation, Short stature |
ORPHA:2576 |
| Witkop Syndrome |
|
Small nail, Fine hair, Nail pits, Ridged nail, Concave nail, Sparse hair |
OMIM:189500 |
| Bardet-Biedl Syndrome 9 |
|
Polyphagia, Truncal obesity, Hyperglycemia, Renal insufficiency, Obesity, Polydipsia |
OMIM:615986 |
| Dentinogenesis Imperfecta |
|
Abnormal dental root morphology, Yellow-brown discoloration of the teeth, Selective tooth agenesi... |
ORPHA:49042 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Type I diabetes mellitus, Hyperinsulinemic hypoglycem... |
ORPHA:276575 |
| Adult Acute Respiratory Distress Syndrome |
|
Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor secretion... |
ORPHA:70578 |
| Fused Mandibular Incisors |
|
Advanced eruption of teeth, Abnormality of the dentition |
ORPHA:2287 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Hypertriglyceridemia, Decreased serum estradiol, Absence of secondary sex chara... |
ORPHA:179494 |
| Rapidly Involuting Congenital Hemangioma |
|
Tufted angioma, Perineal hemangioma, Midfrontal capillary hemangioma, Hemangioma, Hepatic hemangi... |
ORPHA:141184 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Insulin resistance, Elevated hepatic... |
OMIM:615381 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Uric acid nephrolithiasis, Renal insufficiency, Urinary retention, Recurrent urinary tract infect... |
ORPHA:976 |
| Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia |
OMIM:143500 |
| Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome |
|
Aplasia/Hypoplasia of the eyebrow, Pili torti, Growth delay, Abnormality of hair texture, Sparse ... |
ORPHA:2891 |
| Tooth Agenesis, Selective, 9 |
|
Microdontia, Taurodontia, Selective tooth agenesis |
OMIM:617275 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Lymphadenitis, Recurrent mycobacterial infections, Coccidioidomycosis, Disseminated nontuberculou... |
ORPHA:319552 |
| Alg12-Cdg |
|
Abnormal circulating IgG level, Patent ductus arteriosus, Complete or near-complete absence of sp... |
ORPHA:79324 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Lymphoma, Burkitt lymphoma, Hepatic failure, Neutropenia, Reduced natural killer cell activity, D... |
OMIM:308240 |
| Lassa Fever |
|
Diarrhea, Jaundice, Fever, Oliguria, Dysphagia |
ORPHA:99824 |
| Riboflavin Transporter Deficiency |
|
Diabetes insipidus, Cachexia, Hypogonadism |
ORPHA:97229 |
| Acute Monoblastic/Monocytic Leukemia |
|
Central hypothyroidism, Weight loss, Acute monocytic leukemia, Fever, Oliguria |
ORPHA:514 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Cellulitis, Pancreatitis, Insulin resistance, Abnormality of skeletal muscle fiber size, Hepatic ... |
ORPHA:2348 |
| Genetic Recurrent Myoglobinuria |
|
Acute kidney injury, Exercise-induced myoglobinuria, Elevated hepatic transaminase, Fever, Oligur... |
ORPHA:99845 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Hepatosplenomegaly, Eosinophilia,... |
OMIM:619802 |
| 19Q13.11 Microdeletion Syndrome |
|
Sparse lateral eyebrow, Bifid scrotum, Cachexia, Supernumerary nipple, Fine hair, Failure to thri... |
ORPHA:217346 |
| Malaria |
|
Hyperbilirubinemia, Elevated circulating C-reactive protein concentration |
ORPHA:673 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Cirrhosis, Hyperuricemia, Maternal diabetes, Insulin resistance, Pancreatitis, Abnormality of ske... |
ORPHA:79083 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Nonketotic hypoglycemia, L... |
ORPHA:293964 |
| Mcdonough Syndrome |
|
Synophrys, Cachexia, Short stature, Cryptorchidism |
ORPHA:2471 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Short stature, Hypogonadism, Postnatal growth retardation |
OMIM:616113 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypoketotic hypoglycemia, Large for gestational age, Hyperinsulinemic hypoglycemia, Diffuse pancr... |
ORPHA:276556 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... |
ORPHA:90793 |
| Failure Of Tooth Eruption, Primary |
|
Hypodontia, Persistence of primary teeth, Failure of eruption of permanent teeth |
OMIM:125350 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
T lymphocytopenia, Increased proportion of transitional B cells, Cellulitis, Decreased circulatin... |
OMIM:615513 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Ketotic hypoglycemia, Ketonuria, Glycosuria, Elevated hepatic transaminase, Failure to thrive, Po... |
ORPHA:2089 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Female hypogonadism, Gonadotropin deficiency, Decreased serum estradiol, Decreased female libido,... |
ORPHA:52901 |
| Asherman Syndrome |
|
Decreased fertility in females, Secondary amenorrhea, Infertility, Abnormality of the menstrual c... |
ORPHA:137686 |
| Hypotrichosis 4 |
|
Sparse body hair, Alopecia, Sparse eyebrow, Sparse scalp hair, Uncombable hair, Sparse eyelashes |
OMIM:146550 |
| Thrombocytopenia 2 |
|
Thrombocytopenia, Leukocytosis |
OMIM:188000 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Hypothyroidism, Cirrhosis, Weight loss, Cholangiocarcinoma, Hepatocellular carcinoma, Chronic hep... |
ORPHA:465508 |
| Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Uterus didelphys, Metrorrhagia, Partial vaginal septum, Dyspareunia, Abnormal uterine cervix morp... |
ORPHA:3411 |
| Permanent Congenital Hypothyroidism |
|
Hypothyroidism, Hypothermia, Jaundice, Constipation, Umbilical hernia, Thyroid dysgenesis, Goiter |
ORPHA:226292 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Hyperinsulinemia, Vomiting, Diarrhea, Hypothermia, Insulin resistance, Nocturia, Elevated urinary... |
ORPHA:230 |
| Florid Cemento-Osseous Dysplasia |
|
Dental malocclusion, Oral ulcer, Abnormal mandible morphology, Abnormal number of teeth, Jaw swel... |
ORPHA:83451 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Diabetes mellitus, Obesity, Hypercholesterolemia |
OMIM:608320 |
| Acquired Generalized Lipodystrophy |
|
Lymphoma, Hyperinsulinemia, Cirrhosis, Astrocytoma, Insulin resistance, Hepatic steatosis, Acute ... |
ORPHA:79086 |
| Systemic Capillary Leak Syndrome |
|
Diarrhea, Weight loss, Abnormal renal tubule morphology, Multiple myeloma, Oliguria, Renal insuff... |
ORPHA:188 |
| Familial Hyperprolactinemia |
|
Female hypogonadism, Hemorrhagic ovarian cyst, Infertility, Menorrhagia, Oligomenorrhea, Amenorrhea |
ORPHA:397685 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Nephrotic range proteinuria, Bloody diarrhea, Vomiting, Anuria, Diarrhea, Acute kidney injury, De... |
ORPHA:544482 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Anemia, Abnormal natural killer cell physiology, Decreased circulating antibody level, Hepatosple... |
OMIM:613101 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperglycemia, Gait disturbance, Hyperlipidemia |
OMIM:604484 |
| Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Vomiting, Diarrhea, Renal Fanconi syndrome, Glycosuri... |
ORPHA:263455 |
| Leishmaniasis |
|
Leukopenia, Anemia, Night sweats, Weight loss, Abnormal macrophage morphology, Increased circulat... |
ORPHA:507 |
| Leptin Deficiency Or Dysfunction |
|
Hypogonadism, Decreased serum leptin, Polyphagia, Obesity, Micropenis |
OMIM:614962 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Anemia, Increased circulating antibody level, Enlarged kidney, Failure to thrive, Hep... |
OMIM:615285 |
| Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the vagina, Aplasia of the fallopian tube, Aplasia of the uterus, Hirsutism, Primary a... |
OMIM:158330 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Ambiguous genitalia, Gonadoblastoma, Adrenal insufficiency, Increased circulating gonadotropin le... |
ORPHA:251510 |
| Genetic Transient Congenital Hypothyroidism |
|
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... |
ORPHA:226316 |
| Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Elevated circulating creatine kinase concentration, Decreased activity of mitochondrial complex I... |
OMIM:616209 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatic failure, Vomiting, Periportal fibrosis, Hepatocellular necrosis, Depletion of mitochondri... |
OMIM:251880 |
| Immunodeficiency, Common Variable, 4 |
|
Decreased circulating total IgM, Recurrent sinusitis, Complete or near-complete absence of specif... |
OMIM:613494 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Increased circulating prolactin concentration, Increased pituitary glycoprotein hormone alpha sub... |
ORPHA:90674 |
| Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia, Short stature |
ORPHA:1144 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Anemia, Neutropenia, Jaundice, Lymphadenopathy, Increased circulating ferritin concentration, Hem... |
OMIM:603552 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Splenomegaly, Decreased circulating total IgM, Hepatomegaly |
OMIM:606445 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Ambiguous genitalia, Precocious puberty, Premature thelarche, Ambiguous genitalia, female, Decrea... |
ORPHA:90795 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Diabetic ketoacidosis, Small for gestational age, Type I diabetes mellitus, Hyperglycemia |
OMIM:618858 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Hyperglycemia, Obesity, Hypergonadotropic hypogonadism |
OMIM:619737 |
| X-Linked Lymphoproliferative Disease |
|
T lymphocytopenia, Elevated hepatic transaminase, Hepatosplenomegaly, Increased T cell count, Bon... |
ORPHA:2442 |
| Familial Male-Limited Precocious Puberty |
|
Macroorchidism, Precocious puberty, Long penis, Oligospermia, Male infertility, Abnormal hair mor... |
ORPHA:3000 |
| Ovarian Dysgenesis 2 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Delayed puberty, Hirsutism, Hypergonadotro... |
OMIM:300510 |
| Androgen Insensitivity Syndrome |
|
Sparse axillary hair, Ambiguous genitalia, male, Sparse pubic hair, Abnormality of the uterus, De... |
ORPHA:754 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Hypothyroidism, Hepatic fibrosis, Flexion contracture, Abnormal subcutaneous fat tissue distribut... |
OMIM:212065 |
| Complete Androgen Insensitivity Syndrome |
|
Increased serum estradiol, Increased serum testosterone level, Abnormal circulating follicle-stim... |
ORPHA:99429 |
| Silver-Russell Syndrome |
|
Precocious puberty, Short stature, Decreased testicular size, Cachexia, Premature adrenarche, Hyp... |
ORPHA:813 |
| Solitary Fibrous Tumor/Hemangiopericytoma |
|
Low back pain, Neoplasm of the liver, Abnormality of the peritoneum, Hypoglycemia, Hypophosphatem... |
ORPHA:2126 |
| Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Hirsutism, Premature pubarche, Short stature, Secondary amenorrhea |
OMIM:612847 |
| Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Increased variability in muscle fiber diameter, Hyperinsulinemia, Flexion contracture, Centrally ... |
OMIM:613327 |
| Hyperbilirubinemia, Shunt, Primary |
|
Hyperbilirubinemia |
OMIM:237800 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Hyperglycemia, Diabetes mellitus, Small for gestational age, Type I diabetes mellitus |
OMIM:606176 |
| Hyperostosis Frontalis Interna |
|
Irregular menstruation, Increased circulating prolactin concentration, Diabetes mellitus, Obesity... |
OMIM:144800 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Hypothermia, Thyroid hypoplasia, Hypoglycemia, Decreased circulating T4 concentration, Lethargy, ... |
ORPHA:226307 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Decr... |
OMIM:605814 |
| Hemorrhagic Fever-Renal Syndrome |
|
Tubulointerstitial nephritis, Vomiting, Decreased body weight, Diarrhea, Acute tubulointerstitial... |
ORPHA:340 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Impaired glucose tolerance, Type II diabetes mellitus, Increased LDL cholesterol concentration, H... |
OMIM:610947 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hypercholesterolemia, Hyperinsulinemia, Flexion contracture, Increased facial adipose tissue, Imp... |
OMIM:248370 |
| Short Syndrome |
|
Small for gestational age, Insulin resistance, Inguinal hernia, Lipodystrophy, Insulin-resistant ... |
OMIM:269880 |
| Microscopic Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Diarrhea, Hematuria, Fever, Oliguria, Gastrointestinal hemor... |
ORPHA:727 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Decreased lymphocyte proliferation in response to mitogen, Defective T cell proliferation, B-cell... |
OMIM:618534 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Urolithiasis, 2,8-dihydroxyadenine crystalluria, Hematuria, Oliguria, Renal insufficiency, Nephro... |
OMIM:614723 |
| Necrotizing Enterocolitis |
|
Bloody diarrhea, Vomiting, Abnormal glucose homeostasis, Diarrhea, Small for gestational age, Tem... |
ORPHA:391673 |
| Beta-Ketothiolase Deficiency |
|
Oral aversion, Vomiting, Diarrhea, Weight loss, Ketonuria, Ataxia, Agitation, Hypoglycemia, Fever... |
ORPHA:134 |
| Isolated Agammaglobulinemia |
|
Anemia, Cellulitis, Abnormality of the lymphatic system, Abnormality of neutrophils, Failure to t... |
ORPHA:229717 |
| Lysosomal Acid Lipase Deficiency |
|
Adrenal insufficiency, Hepatosplenomegaly, Hepatic steatosis, Bone-marrow foam cells, Hepatomegal... |
OMIM:278000 |
| X-Linked Agammaglobulinemia |
|
Anemia, Neutropenia, Weight loss, Cellulitis, Hepatitis, Abnormality of the lymphatic system, Fai... |
ORPHA:47 |
| Leydig Cell Hypoplasia |
|
Ambiguous genitalia, Breast aplasia, Increased circulating gonadotropin level, Primary amenorrhea... |
ORPHA:755 |
| Mantle Cell Lymphoma |
|
Weight loss, B-cell lymphoma, Lymphadenopathy, Splenomegaly, Fatigue |
ORPHA:52416 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati... |
ORPHA:90673 |
| Autoinflammation With Infantile Enterocolitis |
|
Anemia, Reduced natural killer cell count, Reduced natural killer cell activity, Pancytopenia, Ar... |
OMIM:616050 |
| Björnstad Syndrome |
|
Alopecia, Hypogonadism, Brittle hair |
ORPHA:123 |
| Gigantiform Cementoma, Familial |
|
Multiple impacted teeth, Cementoma, Tooth malposition |
OMIM:137575 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... |
OMIM:614727 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
EMG: myopathic abnormalities, Increased intramuscular fat, Elevated circulating creatine kinase c... |
ORPHA:276435 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Myelodysplasia, Normocy... |
ORPHA:75564 |
| Ringed Hair Disease |
|
Abnormal hair pattern, Fine hair |
ORPHA:169 |
| Inclusion Body Myositis |
|
Abnormal muscle fiber morphology, Elevated circulating creatine kinase concentration, Myalgia, In... |
ORPHA:611 |
| Pseudopili Annulati |
|
Abnormality of hair texture, Abnormality of the scalp hair |
OMIM:613241 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Abnormal spermatogenesis, Testicular microlithiasis, Secondary amenorrhea, Decreased circulating ... |
OMIM:228300 |
| Greig Cephalopolysyndactyly Syndrome |
|
Joint contracture of the hand, Camptodactyly of toe, Inguinal hernia, Hypospadias, Hyperglycemia,... |
OMIM:175700 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Diarrhea, Weight loss, Ketonuria, Hypothermia, Jaundice, Nonketotic hypoglycemia, Elevated hepati... |
ORPHA:20 |
| Insulinoma |
|
Hyperinsulinemia, Nonketotic hypoglycemia, Neuroendocrine neoplasm, Hyperinsulinemic hypoglycemia... |
ORPHA:97279 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Vomiting, Increased circulating free fatty acid level, Small for gestat... |
ORPHA:26793 |
| Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
| Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Lymphoma, Decreased CD4:CD8 ratio, Decreased T cell activation, Decreased proportion of CD4-posit... |
OMIM:300853 |
| Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
| Werner Syndrome |
|
Melanoma, Neoplasm, Slender build, Cutaneous melanoma, Chondrocalcinosis, Breast carcinoma, Type ... |
ORPHA:902 |
| Cholestasis-Lymphedema Syndrome |
|
Multiple lipomas, Cirrhosis, Jaundice, Abdominal pain, Acholic stools, Biliary tract abnormality,... |
ORPHA:1414 |
| Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Increased intramyocellular lipid droplets, Mildly elevated creatine kinase, Weakness of facial mu... |
ORPHA:457050 |
| Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
| Jalili Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Amelogenesis imperfecta, Abnormality of denta... |
ORPHA:1873 |
| Macrophage Activation Syndrome |
|
Hypertriglyceridemia, Increased circulating interleukin 6 concentration, Abnormality of tumor nec... |
ORPHA:158061 |
| Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Decreased mitochondrial number, Limb-girdle muscle weakness, Multiple joint contractures, Elevate... |
ORPHA:352470 |
| Blue Diaper Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Diarrhea, Elevated hepatic transa... |
ORPHA:94086 |
| Spontaneous Periodic Hypothermia |
|
Hypothermia, Gait disturbance, Diarrhea, Ataxia |
ORPHA:29822 |
| Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:125490 |
| Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
| Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Elevated circulating thyroid-stimulating hormone concentration, Small for gestational age, Type I... |
OMIM:274300 |
| Uncombable Hair Syndrome 2 |
|
Pili canaliculi, Uncombable hair |
OMIM:617251 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hyperactivity, Hypogonadism, Small for gestational age, Insulin resistance, Failure to thrive, Hy... |
ORPHA:73272 |
| Central Precocious Puberty |
|
Isosexual precocious puberty, Abnormality of secondary sexual hair, Premature thelarche, Proporti... |
ORPHA:759 |
| Lujo Hemorrhagic Fever |
|
Vomiting, Diarrhea, Fulminant hepatitis, Elevated hepatic transaminase, Fever, Nausea, Oliguria, ... |
ORPHA:319213 |
| Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Hirsutism, Oligomenorrhea, Obesity, Amenorrhea |
OMIM:184700 |
| Aggressive Systemic Mastocytosis |
|
Hepatosplenomegaly, Constitutional symptom, Hematological neoplasm, Decreased liver function, Thr... |
ORPHA:98850 |
| Nemaline Myopathy 2 |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Flexion contracture, Fatt... |
OMIM:256030 |
| Diffuse Cutaneous Systemic Sclerosis |
|
Gastroesophageal reflux, Flexion contracture, Oliguria, Xerostomia, Dysphagia, Renal insufficiency |
ORPHA:220393 |
| Hypercalcemia, Infantile, 1 |
|
Vomiting, Weight loss, Medullary nephrocalcinosis, Failure to thrive, Polyuria, Nephrocalcinosis,... |
OMIM:143880 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Increased total bilirubin |
OMIM:174050 |
| Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia, Abnormality of the liver, Hepatomegaly |
ORPHA:1980 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Weight loss, Lymphadenopathy, Abnormal neutrophil count, Bone marrow hypocellularity, Leukocytosi... |
ORPHA:3226 |
| Flynn-Aird Syndrome |
|
Alopecia, Type II diabetes mellitus, Cachexia, Primary adrenal insufficiency, Abnormality of the ... |
ORPHA:2047 |
| Polyglucosan Body Myopathy 2 |
|
Limb-girdle muscle weakness, Pelvic girdle amyotrophy, Pelvic girdle muscle weakness, Elevated ci... |
OMIM:616199 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Cirrhosis, Hepatic failure, Jaundice, Elevated hepatic transaminase, Acholic stools, Steatorrhea,... |
OMIM:607765 |
| Aredyld Syndrome |
|
Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Short stature, Type II diabetes mellitus, Ca... |
ORPHA:1133 |
| 46,Xy Sex Reversal 1 |
|
Ambiguous genitalia, Abnormality of female external genitalia, Gonadoblastoma, Sex reversal, Abse... |
OMIM:400044 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma, Posterior lenticonus |
ORPHA:231736 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Hypogonadotropic hypogonadism, Cachexia, Hypergonadotropic hypogonadism, Weight loss |
ORPHA:298 |
| Preeclampsia |
|
Increased body mass index, Small for gestational age, Abdominal pain, Elevated hepatic transamina... |
ORPHA:275555 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphadenitis, Abnormal natural killer cell count, Decreased circulating total IgM, Decreased lym... |
ORPHA:331206 |
| Thrombocytopenic Purpura, Autoimmune |
|
Thrombocytopenia |
OMIM:188030 |
| Premature Ovarian Failure 7 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Absent pubic hair, Elevated circulating lu... |
OMIM:612964 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Cachexia, Weight loss |
OMIM:612075 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Sclerosing cholangitis, Hepatomegaly, Absence of lymph node germinal center, Thrombocytopenia, Im... |
OMIM:308230 |
| Felty Syndrome |
|
Lymphoma, Anemia, Weight loss, Cellulitis, Arthralgia, Lymphadenopathy, Bone marrow hypocellulari... |
ORPHA:47612 |
| Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Enamel hypoplasia, Supernumerary tooth, Abnormal dental enamel morphology |
ORPHA:3196 |
| Roch-Leri Mesosomatous Lipomatosis |
|
Multiple lipomas, Thrombocytopenia |
ORPHA:529 |
| Woolly Hair Nevus |
|
Precocious puberty, Patchy hypopigmentation of hair, Curly hair, Congenital posterior occipital a... |
ORPHA:79414 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:613662 |
| Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
| Lymphoproliferative Syndrome 1 |
|
Leukopenia, Anemia, Decreased circulating antibody level, B-cell lymphoma, Pancytopenia, Autoimmu... |
OMIM:613011 |
| Cronkhite-Canada Syndrome |
|
Sparse body hair, Alopecia, Dystrophic toenail, Aplasia/Hypoplasia of the eyebrow, Hypoplastic to... |
ORPHA:2930 |
| Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Increased hepatic glycogen content, Hypoglycemia, Hyperlipidemia, ... |
OMIM:232700 |
| Primary Lipodystrophy |
|
Splenomegaly, Cirrhosis, Type II diabetes mellitus, Insulin resistance, Hepatic steatosis, Lipody... |
ORPHA:90970 |
| Epidermolysis Bullosa, Junctional 4, Intermediate |
|
Dental enamel pits, Carious teeth |
OMIM:619787 |
| Gne Myopathy |
|
Tibialis muscle weakness, Increased variability in muscle fiber diameter, Weakness of long finger... |
ORPHA:602 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Obesity, Polyphagia, Tall stature |
OMIM:618406 |
| Laryngeal Neuroendocrine Tumor |
|
Adrenocorticotropic hormone excess, Weight loss, Increased serum serotonin, Neuroendocrine neopla... |
ORPHA:100083 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
T lymphocytopenia, Decreased lymphocyte proliferation in response to mitogen, Increased circulati... |
ORPHA:169154 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Primary amenorrhea, Decreased serum estradiol, Decreased testicular size, Decreased serum testost... |
OMIM:614841 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Type II diabetes mellitus, Truncal obesity, Hypercholesterolemia, Hyperglycemia, Hypertriglycerid... |
OMIM:615812 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Hyperinsulinemia, Cirrhosis, Reduced intraabdominal adipose tissue, Insulin-resistant diabetes me... |
OMIM:608594 |
| Primary Myelofibrosis |
|
Anemia, Cachexia, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Hemangioma, Lymphadenopathy, ... |
ORPHA:824 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Hypogonadism, Short stature, Decreased testicular size, Synophrys, Cachexia, Hypoplasia of penis,... |
ORPHA:85293 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Cholangiocarcinoma, Hepatoblastoma, Hepatosplenomegaly, Reduced renal corticomedullary differenti... |
ORPHA:731 |
| Erythrokeratodermia Variabilis |
|
Alopecia, Weight loss, Abnormal testis morphology, Short stature, Abnormality of the nail, Diabet... |
ORPHA:317 |
| Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Decreased circulating antibody level, Coombs-positiv... |
OMIM:617514 |
| Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Polyphagia, Attention deficit hyperactivity disorder, Obesity, Glucose intolerance |
ORPHA:369873 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Exocrine pancreatic insufficiency, Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:609812 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia, Failure to thrive in infancy, Splenomegaly, Hepatomegaly |
OMIM:619175 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Transient neonatal diabetes mellitus, Maternal diabetes |
OMIM:610582 |
| Overlap Myositis |
|
Leukopenia, Abnormal circulating lipid concentration, Abnormality of connective tissue, Perifasci... |
ORPHA:206572 |
| Immunodeficiency 48 |
|
Panhypogammaglobulinemia, Failure to thrive, Absence of CD8-positive T cells, Hepatomegaly, Splen... |
OMIM:269840 |
| Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
| Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Refractory anemia with ringe... |
OMIM:133180 |
| Impacted Teeth, Multiple |
|
Multiple impacted teeth, Supernumerary tooth |
OMIM:308280 |
| Barth Syndrome |
|
Abnormal mitochondrial morphology, Abnormality of neutrophils |
ORPHA:111 |
| Merrf |
|
Multiple lipomas, Myopathy, Ragged-red muscle fibers |
ORPHA:551 |
| Rabson-Mendenhall Syndrome |
|
Hypothyroidism, Precocious puberty, Increased serum testosterone level, Impaired glucose toleranc... |
ORPHA:769 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL choles... |
OMIM:620058 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Proximal tubulopathy, Vomiting, Diarrhea, Type I diabetes mellitus, Ataxia, Failure to thrive, Po... |
OMIM:560000 |
| Hidrotic Ectodermal Dysplasia |
|
Alopecia, Sparse eyebrow, Sparse scalp hair, Small nail, Brittle scalp hair, Sparse axillary hair... |
ORPHA:189 |
| Immunodeficiency 104 |
|
T lymphocytopenia, Lymphadenopathy, Failure to thrive secondary to recurrent infections, Hepatome... |
OMIM:608971 |
| Biliary Atresia, Extrahepatic |
|
Increased total bilirubin, Hyperbilirubinemia, Unconjugated hyperbilirubinemia |
OMIM:210500 |
| Bjornstad Syndrome |
|
Alopecia, Dry hair, Pili torti, Hypogonadism, Brittle hair, Coarse hair, Hair shafts flattened at... |
OMIM:262000 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Acute myeloid leukemia, Chronic myelomonocytic leukemia, Myelodysplasia, Eosinophilia, Myeloproli... |
ORPHA:98849 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
3-Methylglutaconic aciduria, Hypothermia, Elevated hepatic transaminase, Failure to thrive, Hypog... |
OMIM:618329 |
| Nonaka Myopathy |
|
Deposits immunoreactive to beta-amyloid protein, EMG: myopathic abnormalities, Elevated circulati... |
OMIM:605820 |
| Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia, Elevated hepatic transaminase |
OMIM:189800 |
| Congenital Hypothyroidism |
|
Hypothyroidism, Hypogonadism, Anterior hypopituitarism, Hypothermia, Constipation, Intestinal obs... |
ORPHA:442 |
| Ovarian Dysgenesis 9 |
|
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube... |
OMIM:619665 |
| Babesiosis |
|
Leukopenia, Hepatic failure, Hemolytic anemia, Jaundice, Arthralgia, Myalgia, Hepatomegaly, Throm... |
ORPHA:108 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Weight loss, Premature graying of hair, Cachexia, Type I diabetes mellitus, Abnormal hair morphology |
ORPHA:1979 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Pancreatic hypoplasia, Lower-limb joint contracture, Reduced pancreatic beta cells, Neonatal insu... |
ORPHA:99885 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Vomiting, Ketonuria, Elevated hepatic transaminase, Failure to thrive, Hypoglycemia, Hyperglycemi... |
OMIM:615453 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Ambiguous genitalia, Decreased circulating aldosterone level, Ambiguous genitalia, female, Decrea... |
ORPHA:90794 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Anemia, Decreased circulating total IgM, B lymphocytopenia, Decreased proportion of CD8-positive,... |
OMIM:619824 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Generalized amyotrophy, Sideroblastic anemia, Elevated hepatic transaminase, Decreased activity o... |
OMIM:613561 |
| Mu-Heavy Chain Disease |
|
Anemia, Weight loss, Increased circulating antibody level, Abnormal B cell count, Lymphadenopathy... |
ORPHA:100024 |
| Immunodeficiency 32B |
|
Abnormal circulating IgG level, Anemia, Monocytopenia, Neutrophilia, Failure to thrive, Eosinophi... |
OMIM:226990 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hypertriglyceridemia, Erythroderma, Increased circulating interleukin 6 concentration, Abnormalit... |
ORPHA:540 |
| 46,Xy Sex Reversal 11 |
|
Urogenital sinus anomaly, Decreased serum testosterone concentration, Aplasia of the uterus, Elev... |
OMIM:273250 |
| Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Irregular menstruation, Alopecia, Precocious puberty, Hyperthyroidism, Abnormal testis morphology... |
ORPHA:457059 |
| Functioning Gonadotropic Adenoma |
|
Impotence, Decreased female libido, Anterior hypopituitarism, Oligospermia, Increased circulating... |
ORPHA:91348 |
| Müllerian Aplasia And Hyperandrogenism |
|
High anterior hairline, Increased serum testosterone level, Short stature, Synophrys, Abnormality... |
ORPHA:247768 |
| Caspase 8 Deficiency |
|
Decreased CD4:CD8 ratio, Decreased T cell activation, Decreased circulating total IgM, Complete o... |
OMIM:607271 |
| Isolated Polycystic Liver Disease |
|
Increased total bilirubin |
ORPHA:2924 |
| Schnitzler Syndrome |
|
Lymphoma, Anemia, Arthralgia, Myalgia, Lymphadenopathy, Leukocytosis, Increased circulating IgM l... |
ORPHA:37748 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged kidney, Elevated circulating growth hormone concentration, Insulin resistance, Insulin-r... |
ORPHA:90301 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Knee flexion contracture, Flexion contracture, Joint contracture of the hand, Small for gestation... |
OMIM:214150 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Increased variability in muscle fiber diameter, Distal lower limb amyotrophy, Calf muscle hypertr... |
OMIM:601954 |
| Hypodontia-Dysplasia Of Nails Syndrome |
|
Hypoplastic toenails, Fine hair, Abnormality of the nail, Abnormal fingernail morphology, Hypopla... |
ORPHA:2228 |
| Acrokeratoderma, Hereditary Papulotranslucent |
|
Fine hair |
OMIM:101840 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Recurrent pancreatitis, Diarrhea, Reduced subcutaneous adipose tissue, Hypercholesterolemia, Dysp... |
OMIM:606721 |
| Hypouricemia, Renal, 1 |
|
Renal cortical hyperechogenicity, Urolithiasis, Uric acid nephrolithiasis, Acute kidney injury, R... |
OMIM:220150 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Hypothyroidism, Dysdiadochokinesis, Gait disturbance, Insulin resistance, Ataxia, Unilateral rena... |
OMIM:616541 |
| Cholera |
|
Vomiting, Abnormality of renal excretion, Diarrhea, Acute kidney injury, Decreased urine output, ... |
ORPHA:173 |
| Mehmo Syndrome |
|
Gait ataxia, Decreased response to growth hormone stimulation test, Inability to walk, Small for ... |
OMIM:300148 |
| Post-Traumatic Pituitary Deficiency |
|
Abnormality of secondary sexual hair, Decreased response to growth hormone stimulation test, Decr... |
ORPHA:95619 |
| Immunodeficiency 27A |
|
Anemia, Night sweats, Weight loss, Enlarged mesenteric lymph node, Hepatosplenomegaly, Lymphadeno... |
OMIM:209950 |
| Adrenal Hypoplasia, Congenital |
|
Precocious puberty, Decreased circulating aldosterone level, Adrenal insufficiency, Decreased cir... |
OMIM:300200 |
| Tetrasomy 12P |
|
Sparse eyebrow, Cachexia, Sparse hair, Short stature |
ORPHA:884 |
| Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
High anterior hairline, Short stature, Small for gestational age, Labial hypoplasia, Long eyelash... |
ORPHA:231137 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Decreased liver function, Failure to thrive, Hypoglycemia, Thrombocytopenia |
ORPHA:67048 |
| Familial Multiple Lipomatosis |
|
Medulloblastoma, Odontogenic keratocysts of the jaw, Increased adipose tissue, Insulin resistance... |
ORPHA:199276 |
| Aicardi-Goutieres Syndrome 3 |
|
Thrombocytopenia, Elevated hepatic transaminase, Hepatosplenomegaly |
OMIM:610329 |
| Hepatic Veno-Occlusive Disease |
|
Increased total bilirubin |
ORPHA:890 |
| Cyclic Neutropenia |
|
Perianal abscess, Cellulitis, Peritonitis, Decreased eosinophil count, Abdominal pain, Bone pain,... |
ORPHA:2686 |
| Sea-Blue Histiocyte Disease |
|
Elevated circulating alanine aminotransferase concentration, Sea-blue histiocytosis, Cirrhosis, E... |
OMIM:269600 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Hyperinsulinemia, Cirrhosis, Reduced intraabdominal adipose tissue, Insulin-resistant diabetes me... |
OMIM:269700 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Hyperbilirubinemia, Increased total iron binding capacity, Increased serum bile acid concentration |
OMIM:616278 |
| Placental Insufficiency |
|
Small for gestational age, Insulin resistance, Hypoxemia |
ORPHA:439167 |
| Chylomicron Retention Disease |
|
Increased hepatocellular lipid droplets, Elevated hepatic transaminase, Steatorrhea, EMG: myopath... |
ORPHA:71 |
| Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Polycystic ovaries, Precocious puberty, Hypergonadotropic hypogonadism |
ORPHA:2229 |
| Eem Syndrome |
|
Selective tooth agenesis, Widely spaced teeth, Microdontia, Abnormality of dental morphology, Abn... |
ORPHA:1897 |
| Mitchell-Riley Syndrome |
|
Pancreatic hypoplasia, Absent gallbladder, Biliary atresia, Diarrhea, Acholic stools, Diabetes me... |
OMIM:615710 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
| Primary Pigmented Nodular Adrenocortical Disease |
|
Cutaneous myxoma, Elevated hepatic transaminase, Adrenal hyperplasia, Dorsocervical fat pad, Hepa... |
ORPHA:189439 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Increased total bilirubin, Hepatic failure, Jaundice, Elevated hepatic transaminase, Cholestasis,... |
OMIM:618528 |
| Pituicytoma |
|
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... |
ORPHA:251623 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypothyroidism, Vomiting, Hypopituitarism, Nausea, Hypercholesterolemia, Hyperglycemia, Alcoholism |
ORPHA:90065 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Increased body mass index, Impaired sensitivity to thyroid hormone, Constipation, Omphalocele, Co... |
OMIM:614450 |
| Isolated Sedoheptulokinase Deficiency |
|
Flexion contracture, Renal insufficiency, Hepatitis, Abnormal renal tubule morphology, Steatorrhe... |
ORPHA:440713 |
| Testicular Regression Syndrome |
|
Decreased fertility, Ambiguous genitalia, Decreased testicular size, Abnormal male internal genit... |
ORPHA:983 |
| Whipple Disease |
|
Hypothyroidism, Diarrhea, Cachexia, Insulin resistance, Ataxia, Fever, Gastrointestinal hemorrhag... |
ORPHA:3452 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Wrist flexion contracture, Muscle fiber splitting, Flexion contracture, Quadriceps muscle atrophy... |
ORPHA:206549 |
| Combined Oxidative Phosphorylation Deficiency 38 |
|
Hyperalaninemia, Decreased activity of mitochondrial ATP synthase complex, Decreased activity of ... |
OMIM:618378 |
| Alexander Disease |
|
Hypothyroidism, Precocious puberty, Hypothermia, Gait disturbance, Ataxia, Diabetes mellitus, Fai... |
ORPHA:58 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Cachexia, Generalized hirsutism, Short stature |
ORPHA:1933 |
| Rhabdoid Tumor |
|
Anemia, Neoplasm of the central nervous system, Weight loss, Sarcoma, Neoplasm of the liver, Abdo... |
ORPHA:69077 |
| Secondary Intestinal Lymphangiectasia |
|
