| Akt2-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Increased i... |
ORPHA:79085 |
| Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Insulin resistance, Decreased serum insulin-like growth factor 1, Delayed puberty, Truncal obesity |
ORPHA:140941 |
| Moynahan Syndrome |
|
Alopecia, Hypogonadism, Cachexia, Short stature, Sparse hair |
ORPHA:2574 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Increased a... |
ORPHA:435660 |
| Transient Neonatal Diabetes Mellitus |
|
Abnormality of the urinary system, Maturity-onset diabetes of the young, Failure to thrive, Umbil... |
ORPHA:99886 |
| Crigler-Najjar Syndrome Type 2 |
|
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia |
ORPHA:79235 |
| Multiple Symmetric Lipomatosis |
|
Insulin resistance, Multiple lipomas, Gait disturbance, Hepatomegaly, Abnormal adipose tissue mor... |
ORPHA:2398 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Loss of glut... |
ORPHA:435651 |
| Regional Odontodysplasia |
|
Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... |
ORPHA:83450 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Decreased adiponectin level, Hepatic steatosis, Lipodystrophy, Hypertriglyceridemia, Hepatomegaly... |
OMIM:615238 |
| Dentin Dysplasia, Type I |
|
Periapical bone loss, Oligodontia, Taurodontia, Microdontia, Enamel hypoplasia, Pulp obliteration... |
OMIM:125400 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
|
Hypomature dental enamel, Amelogenesis imperfecta, Enamel hypomineralization |
OMIM:613211 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Large for gestational age, ... |
ORPHA:293964 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Increased subcutaneous truncal adipose tissue, Insulin-resistant diabetes mellitus, Increased adi... |
OMIM:608600 |
| Insulin Autoimmune Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk... |
ORPHA:411593 |
| Type 2 Diabetes Mellitus |
|
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus |
OMIM:125853 |
| Amelogenesis Imperfecta |
|
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... |
ORPHA:88661 |
| Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
| Mody |
|
Nephropathy, Abnormal circulating insulin concentration, Glycosuria, Insulin-resistant diabetes m... |
ORPHA:552 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... |
OMIM:604367 |
| Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta, Enamel hypoplasi... |
OMIM:617297 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis |
OMIM:613370 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Amelogenesis i... |
OMIM:204700 |
| Otodental Dysplasia |
|
Delayed eruption of teeth, Long philtrum, Agenesis of premolar, Taurodontia, Coloboma, Pulp calci... |
OMIM:166750 |
| Amelogenesis Imperfecta, Type Iiib |
|
Amelogenesis imperfecta, Enamel hypomineralization |
OMIM:617607 |
| Dentin Dysplasia, Type Ii |
|
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp |
OMIM:125420 |
| Jaundice, Familial Obstructive, Of Infancy |
|
Neonatal hyperbilirubinemia |
OMIM:308600 |
| 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 |
|
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancreatitis, Hepatomegaly, Diabetes mel... |
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 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Insulin resistance, Decreased adiponectin level, Lipoatrophy, Increased adipose tissue around the... |
ORPHA:280365 |
| Amelogenesis Imperfecta, Type Ia |
|
Generalized microdontia, Dental enamel pits, Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:104530 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Chronic... |
OMIM:610539 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatic failure, Oliguria, Elevated circulating hepatic transaminase concentration, Dicarboxylic ... |
ORPHA:159 |
| Edinburgh Malformation Syndrome |
|
Neonatal hyperbilirubinemia, U-Shaped upper lip vermilion |
OMIM:129850 |
| Glutathione Peroxidase Deficiency |
|
Neonatal hyperbilirubinemia |
OMIM:614164 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia, Severe failure to thrive |
OMIM:601410 |
| Cortisone Reductase Deficiency 1 |
|
Precocious puberty, Alopecia, Obesity, Hirsutism, Oligomenorrhea, Infertility |
OMIM:604931 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... |
OMIM:615559 |
| Idiopathic Congenital Hypothyroidism |
|
Elevated circulating thyroid-stimulating hormone concentration, Umbilical hernia, Decreased circu... |
ORPHA:95717 |
| Type 1 Diabetes Mellitus |
|
Polydipsia, Hyperglycemia, Polyphagia, Polyuria, Diabetes mellitus |
OMIM:222100 |
| Amelogenesis Imperfecta, Type Iiia |
|
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion |
OMIM:130900 |
| Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Dentinogenesis imperfecta, Periapical bone loss, Anterior open-bite malocclus... |
OMIM:125500 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Pneumonia, Recurrent mycobacterial infections, Recurrent Klebsiella infections, Abnormal circulat... |
ORPHA:319552 |
| Morbid Obesity And Spermatogenic Failure |
|
Insulin resistance, Obesity, Type II diabetes mellitus, Hepatic steatosis, Hypercholesterolemia, ... |
OMIM:615703 |
| Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Abnormal circulating bilirubin concentration, Increased serum bile acid concentration |
OMIM:619874 |
| Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia |
OMIM:237450 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Insulin resistance, Generalized lipodystrophy, Hyperinsulinemia, Gait ataxia, Hepatic steatosis, ... |
ORPHA:363400 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Insulin resistance, Generalized lipodystrophy, Hepatosplenomegaly, Splenomegaly, Hepatic steatosi... |
OMIM:612526 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Cortisone Reductase Deficiency 2 |
|
Insulin resistance, Premature pubarche, Obesity, Low tetrahydrocortisol (THF) plus 5-alpha-THF/te... |
OMIM:614662 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Increased serum leptin, Hyperinsulinemia, Obesity, Hyperlipidemia, Polyphagia... |
OMIM:617885 |
| Carabelli Anomaly Of Maxillary Molar Teeth |
|
Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar |
OMIM:114700 |
| Amelogenesis Imperfecta, Type Ic |
|
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp... |
OMIM:204650 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Hyperbilirubinemia |
OMIM:618660 |
| Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
OMIM:237500 |
| Acquired Partial Lipodystrophy |
|
Insulin resistance, Hepatic steatosis, Myopathy, Arthralgia, Lymphocytosis, Lipoatrophy |
ORPHA:79087 |
| Diabetes Mellitus, Ketosis-Prone |
|
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction |
OMIM:612227 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity... |
ORPHA:71529 |
| Aids Wasting Syndrome |
|
Cachexia, Weight loss, Abnormal gonadotropin-releasing hormone concentration |
ORPHA:90081 |
| Crigler-Najjar Syndrome, Type Ii |
|
Unconjugated hyperbilirubinemia |
OMIM:606785 |
| Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies |
|
Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism |
OMIM:307500 |
| Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Enamel hypo... |
OMIM:616221 |
| Immunodeficiency 105 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina... |
OMIM:619924 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Precocious puberty, Long penis, Insulin-resistant diabetes mellitus, ... |
OMIM:262190 |
| Riboflavin Deficiency |
|
Lethargy, Hypothermia, Hypoglycemia, Dicarboxylic aciduria |
OMIM:615026 |
| Rotor Syndrome |
|
Hyperbilirubinemia, Conjugated hyperbilirubinemia |
ORPHA:3111 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Abnormal circulating insulin concentration, Elevated circulating thyroid-stimulating hormone conc... |
ORPHA:171706 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Amelogenesis imperfecta, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth... |
OMIM:612529 |
| Amelogenesis Imperfecta, Type Iiic |
|
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... |
OMIM:618386 |
| Dental Ankylosis |
|
Abnormal dental enamel morphology, Mandibular prognathia, Tooth agenesis |
ORPHA:1077 |
| Primary Condylar Hyperplasia |
|
Abnormal mandible condylar process morphology, Macrodontia, Anterior open-bite malocclusion, Abno... |
ORPHA:477781 |
| Diabetes Mellitus, Permanent Neonatal, 2 |
|
Hyperglycemia, Type I diabetes mellitus, Flexion contracture |
OMIM:618856 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
|
Amelogenesis imperfecta, Enamel hypomineralization, Enamel hypoplasia |
OMIM:614832 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Lipodystrophy, Hypert... |
OMIM:613877 |
| Crigler-Najjar Syndrome, Type I |
|
Unconjugated hyperbilirubinemia |
OMIM:218800 |
| Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Multiple unerupted teeth, Micrognathia, Crowded maxillary incisors, Stillbirth |
OMIM:183300 |
| 2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Lethargy, Hypothermia, Hypoglycemia, 2-ethylhydracylic aciduria |
OMIM:610006 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hyperbilirubinemia, Conjugated hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:620010 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hypoglycemia, Excessive insul... |
ORPHA:324575 |
| Renal Hypoplasia, Bilateral |
|
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Failure... |
ORPHA:97362 |
| Oligodontia |
|
Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l... |
ORPHA:99798 |
| Mahvash Disease |
|
Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis, Type II diabetes mellitus, Increased g... |
OMIM:619290 |
| Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:616270 |
| Familial Thyroid Dyshormonogenesis |
|
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... |
ORPHA:95716 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Amelogenesis imperfecta, Carious teeth, Yellow-brown discoloration of the teeth |
OMIM:615887 |
| Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Atopic dermatitis,... |
OMIM:618944 |
| Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2 |
|
Amelogenesis imperfecta |
OMIM:301201 |
| Amelogenesis Imperfecta, Type Ib |
|
Amelogenesis imperfecta |
OMIM:104500 |
| Cleft Palate, Isolated |
|
Micrognathia, Anterior open-bite malocclusion, Gingival overgrowth, Increased overbite, Cleft palate |
OMIM:119540 |
| Crandall Syndrome |
|
Alopecia, Fine hair, Sparse body hair, Hypogonadism, Aplasia/Hypoplasia of the eyebrow, Brittle h... |
ORPHA:202 |
| Amelogenesis Imperfecta, Type Ie |
|
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp... |
OMIM:301200 |
| Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Unsteady gait, Type II diabetes mellitus |
OMIM:520000 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Cholestasis, Decreased response to growth hormone stimulation test, Hyperinsul... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Cholestasis, Decreased response to growth hormone stimulation test, Hyperinsul... |
ORPHA:71526 |
| Insulin-Resistance Syndrome Type B |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... |
ORPHA:2298 |
| Maturity-Onset Diabetes Of The Young, Type 11 |
|
Obesity, Overweight, Maturity-onset diabetes of the young |
OMIM:613375 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Insulin resistance, Hyperlipidemia, Hepatic steatosis, Lipodystrophy, Abdominal obesity, Diabetes... |
OMIM:615980 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... |
OMIM:256450 |
| Amelogenesis Imperfecta, Type Iv |
|
Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia |
OMIM:104510 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyperplasia, Hyp... |
OMIM:601820 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck, Increased facial a... |
OMIM:151660 |
| Crigler-Najjar Syndrome Type 1 |
|
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia |
ORPHA:79234 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Umbilical hernia, Decreas... |
ORPHA:226313 |
| Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Abnormality of the dentition, Pigmentary retinopathy, Neonatal hyperbilirubinemia, Retinal degene... |
ORPHA:3363 |
| Diencephalic Syndrome |
|
Cachexia, Long penis, Abnormality of the hypothalamus-pituitary axis, Decreased body weight |
ORPHA:1672 |
| Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Elevated circulating luteinizing hormone level, Sparse body hair, Decreased fertility, Cryptorchi... |
ORPHA:90796 |
| Gcgr-Related Hyperglucagonemia |
|
Cholelithiasis, Glucagonoma, Abnormal biliary tract morphology, Neoplasm of the pancreas, Increas... |
ORPHA:438274 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Fasting hypoglycemia, Truncal obesity, Hypoinsu... |
OMIM:240900 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... |
OMIM:616452 |
| Sepsis In Premature Infants |
|
Temperature instability, Diarrhea, Vomiting, Oliguria, Decreased liver function, Fever, Reversibl... |
ORPHA:90051 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased circulating cortisol level, Increased urinary cortisol level, Hyperglycemia, Macronodul... |
OMIM:615954 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Hypoalbuminemia, Failure to thrive, Ascites, Hypocholesterolemia, Splenomegaly, Lipodystrophy, He... |
OMIM:608776 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp... |
ORPHA:276580 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Stage 5 chronic kidney dise... |
OMIM:608612 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Ketonuria, Glycosuria, Hyperglycemia, Athetosis, Small for gestational age |
OMIM:618857 |
| Acute Monoblastic/Monocytic Leukemia |
|
Oliguria, Central hypothyroidism, Acute monocytic leukemia, Fever, Weight loss, Anorexia |
ORPHA:514 |
| Donohue Syndrome |
|
Postprandial hyperglycemia, Hepatic fibrosis, Precocious puberty, Long penis, Cholestasis, Hyperg... |
OMIM:246200 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgE level, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of mem... |
OMIM:618982 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased circulating IgG level, Reduced delayed hypersensitivity, Chronic noninfectious lymphade... |
OMIM:603909 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Hyperbilirubinemia |
OMIM:179700 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Decreased proportion of memory B cells, Failure to thrive, Abnormal circulating IgM level, Lipody... |
OMIM:618048 |
| Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Abnormal circulating interleukin concentration, Sepsis, Abnormality of tumor necrosis ... |
ORPHA:70578 |
| Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
| Acute Lung Injury |
|
Pneumonia, Sepsis, Abnormality of tumor necrosis factor secretion, Abnormal circulating cytokine ... |
ORPHA:178320 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... |
ORPHA:276608 |
| Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia, Ataxia |
OMIM:618970 |
| Autoimmune Lymphoproliferative Syndrome |
|
Neoplasm of the skin, Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased prop... |
ORPHA:3261 |
| Congenital Generalized Lipodystrophy |
|
Insulin resistance, Precocious puberty in females, Failure to thrive, Hyperinsulinemia, Hepatic s... |
ORPHA:528 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Lymphopenia, Splenome... |
OMIM:617591 |
| Mandibuloacral Dysplasia |
|
Insulin resistance, Increased circulating free fatty acid level, Increased subcutaneous truncal a... |
ORPHA:2457 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hypoalbuminemia, Increased total bilirubin, Increased serum bile acid concentration, Hypercholest... |
OMIM:619868 |
| Fanconi-Bickel Syndrome |
|
Nephropathy, Generalized aminoaciduria, Nephrocalcinosis, Postprandial hyperglycemia, Hepatic fai... |
ORPHA:2088 |
| Mitochondrial Myopathy With Diabetes |
|
Exercise intolerance, Weakness of orbicularis oculi muscle, Decreased activity of mitochondrial c... |
OMIM:500002 |
| Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Lymphoma, Lymphoproliferative disorder, Pancytopenia, Splenomegaly, Follicular hyperplasia, Incre... |
OMIM:614470 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum estradiol, Male hypogonadism, Sparse pubic hair, Decreased serum testosterone con... |
ORPHA:52901 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Methylmalonic aciduria, Hypoglycemia, Failure to thrive, Elevated circulating aspartate aminotran... |
OMIM:245400 |
| Otodental Syndrome |
|
Abnormality of canine, Carious teeth, Periodontitis, Abnormal dental pulp morphology, Abnormal mo... |
ORPHA:2791 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Neutropenia, Reduced natu... |
OMIM:308240 |
| Dentinogenesis Imperfecta |
|
Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ... |
ORPHA:49042 |
| Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Malar flattening, Hypodontia, Alveolar pro... |
ORPHA:2972 |
| Mulibrey Nanism |
|
Short stature, Intrauterine growth retardation, Cachexia |
ORPHA:2576 |
| Amelogenesis Imperfecta, Type Ik |
|
Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:620104 |
| Renpenning Syndrome |
|
Severe short stature, Alopecia, Abnormal hairshaft morphology, Growth delay, Decreased testicular... |
ORPHA:3242 |
| Bardet-Biedl Syndrome 9 |
|
Polydipsia, Hyperglycemia, Obesity, Renal insufficiency, Polyphagia, Truncal obesity |
OMIM:615986 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp... |
ORPHA:276575 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hemophagocytosis, Colon cancer, Hepatosplenomegaly, Pancytopenia, Hyperbilirubinemia, Hodgkin lym... |
ORPHA:158057 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract... |
ORPHA:976 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Insulin resistance, Male hypogonadism, Elevated circulating hepatic transaminase concentration, H... |
OMIM:615381 |
| Tooth Agenesis, Selective, 9 |
|
Taurodontia, Selective tooth agenesis, Microdontia |
OMIM:617275 |
| Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia |
OMIM:143500 |
| Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Decreased HDL cholesterol concentration, Increased LDL cholesterol concen... |
OMIM:607616 |
| Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome |
|
Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the eyebrow, Abnormality of hair te... |
ORPHA:2891 |
| Alg12-Cdg |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Recu... |
ORPHA:79324 |
| Immunodeficiency 112 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev... |
OMIM:620449 |
| Lassa Fever |
|
Diarrhea, Oliguria, Fever, Jaundice, Dysphagia |
ORPHA:99824 |
| Florid Cemento-Osseous Dysplasia |
|
Abnormal cementum morphology, Periapical bone loss, Mandibular osteomyelitis, Dental malocclusion... |
ORPHA:83451 |
| 19Q13.11 Microdeletion Syndrome |
|
Growth delay, Failure to thrive, Bifid scrotum, Supernumerary nipple, Sparse lateral eyebrow, Fin... |
ORPHA:217346 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Decreased circulating IgG level, Failure to thrive, Increased circulating IgE level, Hypopituitar... |
ORPHA:98813 |
| Riboflavin Transporter Deficiency |
|
Hypogonadism, Cachexia, Diabetes insipidus |
ORPHA:97229 |
| Genetic Recurrent Myoglobinuria |
|
Acute kidney injury, Oliguria, Elevated circulating hepatic transaminase concentration, Fever, Di... |
ORPHA:99845 |
| Genetic Transient Congenital Hypothyroidism |
|
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... |
ORPHA:226316 |
| Meningococcal Meningitis |
|
Fever, Renal insufficiency, Hypothermia, Lethargy, Increased circulating procalcitonin concentrat... |
ORPHA:33475 |
| Mcdonough Syndrome |
|
Short stature, Cachexia, Cryptorchidism, Synophrys |
ORPHA:2471 |
| Malaria |
|
Elevated circulating C-reactive protein concentration, Hyperbilirubinemia |
ORPHA:673 |
| Immunodeficiency 97 With Autoinflammation |
|
Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ... |
OMIM:619802 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Cellulitis, Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating I... |
OMIM:615513 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... |
ORPHA:90793 |
| Rapidly Involuting Congenital Hemangioma |
|
Visceral hemangioma, Midfrontal capillary hemangioma, Hemangioma, Thrombocytopenia, Hepatic heman... |
ORPHA:141184 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Excessive... |
ORPHA:276556 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Elevated circulating hepatic transaminase concentration, Ketonuria, G... |
ORPHA:2089 |
| Asherman Syndrome |
|
Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O... |
ORPHA:137686 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Insulin resistance, Elevated urinary dopamine level, Diarrhea, Vomiting, Hypoglycemia, Hyperinsul... |
ORPHA:230 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Hypothermia... |
ORPHA:226307 |
| Failure Of Tooth Eruption, Primary |
|
Hypodontia, Persistence of primary teeth, Failure of eruption of permanent teeth |
OMIM:125350 |
| Multiple Endocrine Neoplasia Type 4 |
|
Diarrhea, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urina... |
ORPHA:276152 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Maturity-onset diabetes of the young, Hyperglycemia, Abnormality of body mass index, Maternal dia... |
OMIM:616329 |
| Systemic Capillary Leak Syndrome |
|
Diarrhea, Oliguria, Renal insufficiency, Abnormal renal tubule morphology, Pancreatitis, Weight l... |
ORPHA:188 |
| Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Hydrocolpos, Uterus didelphys, Metrorrhagia, Dysmenorrhea, Dyspareunia, Abnormal uterine cervix m... |
ORPHA:3411 |
| Hypotrichosis 4 |
|
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair |
OMIM:146550 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Elevated circulating thyroid-stimulating hormone concentration, Umbilical hernia, Decreased circu... |
ORPHA:90673 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Skeletal muscle hypertrophy, Myalgia, Lo... |
ORPHA:79083 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Increased pituitary glycoprotein hormone alpha subunit level, Failure to thrive, Increased circul... |
ORPHA:90674 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Obesity, Diabetes mellitus, Hypercholesterolemia |
OMIM:608320 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Increased LDL cholesterol concentration, Glucose intolerance, Type II diabetes mellitus, Hypertri... |
OMIM:610947 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Insulin resistance, Cellulitis, Hepatic steatosis, Splenomegaly, Glomerulopathy, Lipodystrophy, P... |
ORPHA:2348 |
| Acquired Generalized Lipodystrophy |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Lymphoma, Generalized lipodystrophy, Hyp... |
ORPHA:79086 |
| Zollinger-Ellison Syndrome |
|
Diarrhea, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urina... |
ORPHA:913 |
| Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Abnormality of the menstrual cycle, Female infertility, Abnormal circulating estrogen level |
OMIM:619009 |
| Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia, Decreased circulatin... |
OMIM:617514 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Acute kidney injury, Oliguria, Diarrhea, Anuria, Vomiting, Secretory diarrhea, Acute colitis, Fev... |
ORPHA:544482 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Diarrhea, Vomiting, Glycosuria, Elevated circulating hepatic transaminase concentration, Hyperins... |
ORPHA:263455 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperglycemia, Gait disturbance, Hyperlipidemia |
OMIM:604484 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... |
ORPHA:251510 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Decreased serum testosterone concentration, Hyperglycemia, Portal hypertension, Splenomegaly, Hyp... |
ORPHA:465508 |
| Fused Mandibular Incisors |
|
Abnormality of the dentition, Advanced eruption of teeth |
ORPHA:2287 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly, Decreased circulating total IgM |
OMIM:606445 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating ... |
OMIM:615285 |
| Beta-Ketothiolase Deficiency |
|
Diarrhea, Ketonuria, Vomiting, Hypoglycemia, Fever, Anorexia, Hyperglycemia, Oral aversion, Weigh... |
ORPHA:134 |
| Familial Hyperprolactinemia |
|
Hemorrhagic ovarian cyst, Infertility, Amenorrhea, Oligomenorrhea, Female hypogonadism, Menorrhagia |
ORPHA:397685 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
3-Methylglutaric aciduria, Diarrhea, Ketonuria, Elevated circulating hepatic transaminase concent... |
ORPHA:20 |
| Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Short stature, Cachexia |
ORPHA:1144 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi... |
OMIM:605814 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic fibrosis, Hyperinsulinemia, Hepatic steatosis, Reduced subcutaneous adipose tissue, Loss ... |
ORPHA:280356 |
| Necrotizing Enterocolitis |
|
Temperature instability, Diarrhea, Vomiting, Small for gestational age, Hyperglycemia, Abnormal g... |
ORPHA:391673 |
| Blue Diaper Syndrome |
|
Nephrocalcinosis, Diarrhea, Increased proinsulin:insulin ratio, Elevated circulating hepatic tran... |
ORPHA:94086 |
| Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the fallopian tube, Aplasia of the vagina, Increased circulating androstenedione conce... |
OMIM:158330 |
| Leishmaniasis |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Pancytopenia, Leukopeni... |
ORPHA:507 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Hyperglycemia, Type I diabetes mellitus, Small for gestational age, Diabetic ketoacidosis |
OMIM:618858 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Hypoalbuminemia, Hepatic fibrosis, Decreased circulating IgG level, Elevated circulating hepatic ... |
OMIM:212065 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Hyperglycemia, Obesity, Hypergonadotropic hypogonadism |
OMIM:619737 |
| Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Small for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Goiter... |
OMIM:274300 |
| Familial Peripheral Male-Limited Precocious Puberty |
|
Precocious puberty, Long penis, Abnormal hair morphology, Oligozoospermia, Macroorchidism, Male i... |
ORPHA:3000 |
| Ovarian Dysgenesis 2 |
|
Streak ovary, Hirsutism, Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency, Hy... |
OMIM:300510 |
| Insulinoma |
|
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... |
ORPHA:97279 |
| Silver-Russell Syndrome |
|
Precocious puberty, Premature adrenarche, Abnormal male external genitalia morphology, Abnormal v... |
ORPHA:813 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,... |
OMIM:613101 |
| Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Exercise intolerance, Decreased activity of mitochondria... |
OMIM:616209 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus, Small for gestational age |
OMIM:606176 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Aggressive behavior, Hyperinsulinemia, Polyphagia, Obesity |
ORPHA:329249 |
| Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
| Short Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Abse... |
OMIM:269880 |
| Leydig Cell Hypoplasia |
|
Cryptorchidism, Male pseudohermaphroditism, Primary amenorrhea, Abnormal internal genitalia, Fema... |
ORPHA:755 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemi... |
OMIM:603552 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... |
OMIM:228300 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Premature adrenarche, Clitoral hypertrophy, Polycystic ovaries, Decreased circulating renin level... |
ORPHA:90795 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Generalized aminoaciduria, Depletion of mitochondrial DNA in liver, Vomiting, Hepatic failure, Pe... |
OMIM:251880 |
| Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Short stature, Secondary amenorrhea, Premature pubarche, Hirsutism |
OMIM:612847 |
| Obesity And Hypopigmentation |
|
Hyperinsulinemia, Obesity, Hepatic steatosis, Polyphagia, Overgrowth |
OMIM:620195 |
| Hyperbilirubinemia, Shunt, Primary |
|
Hyperbilirubinemia |
OMIM:237800 |
| Complete Androgen Insensitivity Syndrome |
|
Elevated circulating luteinizing hormone level, Sparse pubic hair, Abnormal morphology of female ... |
ORPHA:99429 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Insulin resistance, Increased variability in muscle fiber diameter, Exercise intolerance, Elevate... |
OMIM:613327 |
| Solitary Fibrous Tumor |
|
Recurrent hypoglycemia, Pelvic mass, Neoplasm of the nervous system, Weight loss, Abnormal perito... |
ORPHA:2126 |
| Macrophage Activation Syndrome |
|
Hypoalbuminemia, Abnormal circulating interleukin concentration, Hepatitis, Abnormality of tumor ... |
ORPHA:158061 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Oliguria, Urolithiasis, Renal insufficiency, 2,8-dihydroxyadenine crystalluria, Nephrolithiasis, ... |
OMIM:614723 |
| Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Diarrhea, Oliguria, Fever, Renal insufficiency, Hematuria, Glomerulo... |
ORPHA:727 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... |
OMIM:618534 |
| Obesity Due To Congenital Leptin Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:66628 |
| Hemorrhagic Fever-Renal Syndrome |
|
Chronic kidney disease, Acute kidney injury, Oliguria, Diarrhea, Anuria, Vomiting, Elevated circu... |
ORPHA:340 |
| Isolated Agammaglobulinemia |
|
Cellulitis, Failure to thrive, Abnormal lymphocyte morphology, Abnormality of the lymphatic syste... |
ORPHA:229717 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Elevated circul... |
OMIM:614727 |
| Immunodeficiency 114, Folate-Responsive |
|
Decreased circulating IgG level, Increased circulating ferritin concentration, Increased circulat... |
OMIM:620603 |
| X-Linked Agammaglobulinemia |
|
Cellulitis, Hepatitis, Failure to thrive, Neoplasm, Hypocalcemia, Abnormality of the lymphatic sy... |
ORPHA:47 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck, Increased facial a... |
OMIM:248370 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... |
ORPHA:75564 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:179494 |
| Björnstad Syndrome |
|
Hypogonadism, Alopecia, Brittle hair |
ORPHA:123 |
| Ringed Hair Disease |
|
Abnormal hair pattern, Fine hair |
ORPHA:169 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, Lymphoma, Decreased CD4:CD8 ratio, Decreas... |
OMIM:300853 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs... |
ORPHA:276435 |
| Mantle Cell Lymphoma |
|
Splenomegaly, B-cell lymphoma, Fatigue, Weight loss, Lymphadenopathy |
ORPHA:52416 |
| Cholesteryl Ester Storage Disease |
|
Hepatic bridging fibrosis, Acute hepatic failure, Adrenal calcification, Hepatosplenomegaly, Hype... |
OMIM:278000 |
| Polyglucosan Body Myopathy 2 |
|
Muscle fiber inclusion bodies, Hand muscle weakness, Shoulder girdle muscle weakness, Muscle fibe... |
OMIM:616199 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Vomiting, Elevated circulating hepatic transaminase ... |
ORPHA:26793 |
| Autoinflammation With Infantile Enterocolitis |
|
Hypoalbuminemia, Reduced natural killer cell count, Failure to thrive, Increased circulating ferr... |
OMIM:616050 |
| Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
| Werner Syndrome |
|
Neoplasm of the oral cavity, Slender build, Type II diabetes mellitus, Melanoma, Renal neoplasm, ... |
ORPHA:902 |
| Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in lower limbs, Exercise intolerance, Proximal muscle weakness in upper ... |
ORPHA:457050 |
| Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
| Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho... |
OMIM:620282 |
| Gigantiform Cementoma, Familial |
|
Tooth malposition, Cementoma, Multiple impacted teeth |
OMIM:137575 |
| Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
| Jalili Syndrome |
|
Optic atrophy, Abnormal dental enamel morphology, Abnormality of retinal pigmentation, Amelogenes... |
ORPHA:1873 |
| Cholestasis-Lymphedema Syndrome |
|
Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,... |
ORPHA:1414 |
| Poems Syndrome |
|
Increased circulating prolactin concentration, Increased circulating antibody level, Weight loss,... |
ORPHA:2905 |
| Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:125490 |
| Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Glucose intolerance, Obesity, Polyphagia, Attention deficit hyperactivity disorder |
ORPHA:369873 |
| Spontaneous Periodic Hypothermia |
|
Diarrhea, Gait disturbance, Hypothermia, Ataxia |
ORPHA:29822 |
| Lujo Hemorrhagic Fever |
|
Diarrhea, Oliguria, Vomiting, Elevated circulating hepatic transaminase concentration, Fever, Ren... |
ORPHA:319213 |
| Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
| 46,Xy Sex Reversal 1 |
|
Abnormal male external genitalia morphology, Elevated circulating luteinizing hormone level, Gona... |
OMIM:400044 |
| Aggressive Systemic Mastocytosis |
|
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Hematological neoplasm, Arthralgia, Constitution... |
ORPHA:98850 |
| Uncombable Hair Syndrome 2 |
|
Pili canaliculi, Uncombable hair |
OMIM:617251 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test... |
OMIM:614841 |
| Inclusion Body Myositis |
|
Rimmed vacuoles, Skeletal muscle atrophy, Quadriceps muscle weakness, Myalgia, Inflammatory myopa... |
ORPHA:611 |
| Immunodeficiency 115 With Autoinflammation |
|
Hypoalbuminemia, Decreased circulating IgG level, Verrucae, Skeletal muscle atrophy, Lower limb m... |
OMIM:620632 |
| Polycystic Ovary Syndrome 1 |
|
Obesity, Hirsutism, Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea |
OMIM:184700 |
| Diffuse Cutaneous Systemic Sclerosis |
|
Oliguria, Xerostomia, Gastroesophageal reflux, Renal insufficiency, Flexion contracture, Dysphagia |
ORPHA:220393 |
| Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Slender build, Myalgia, Decreased mitochondrial number, Multiple joint contractures, Myopathy, Li... |
ORPHA:352470 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Intrahepatic cholestasis, Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic tra... |
OMIM:607765 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Premature adrenarche, Increased circulating prolactin concentration, Ganglioneuroblastoma, Hyperg... |
ORPHA:293987 |
| Mehmo Syndrome |
|
Male hypogonadism, Hypoglycemia, Difficulty walking, Inability to walk, Decreased response to gro... |
OMIM:300148 |
| Osteogenesis Imperfecta, Type Xxiii |
|
Insulin resistance, Truncal obesity |
OMIM:620639 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Posterior lenticonus, Iris coloboma, Chorioretinal coloboma, Remnants of the hyaloid vascular system |
ORPHA:231736 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Hypogonadotropic hypogonadism, Cachexia, Weight loss, Hypergonadotropic hypogonadism |
ORPHA:298 |
| Primary Myelofibrosis |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... |
ORPHA:824 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Fatigue, Weight loss, Ly... |
ORPHA:3226 |
| Bilateral Striopallidodentate Calcinosis |
|
Hepatomegaly, Abnormality of the liver, Thrombocytopenia |
ORPHA:1980 |
| Roch-Leri Mesosomatous Lipomatosis |
|
Multiple lipomas, Thrombocytopenia |
ORPHA:529 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:613662 |
| Aredyld Syndrome |
|
Type I diabetes mellitus, Sparse body hair, Intrauterine growth retardation, Type II diabetes mel... |
ORPHA:1133 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Weight loss, Failure to thrive |
OMIM:612075 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Insulin resistance, Failure to thrive, Hypoglycemia, Hypogonadism, Attention deficit hyperactivit... |
ORPHA:73272 |
| Greig Cephalopolysyndactyly Syndrome |
|
Joint contracture of the hand, Umbilical hernia, Hyperglycemia, Inguinal hernia, Camptodactyly of... |
OMIM:175700 |
| Immune Thrombocytopenia |
|
Thrombocytopenia |
OMIM:188030 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Cirrhosis, Increased circulating IgA level, Neutropenia, Hepatomegaly, Impaired Ig class switch r... |
OMIM:308230 |
| Lymphoproliferative Syndrome 1 |
|
Decreased circulating IgG level, Hemophagocytosis, Increased circulating ferritin concentration, ... |
OMIM:613011 |
| Hypercalcemia, Infantile, 1 |
|
Nephrocalcinosis, Vomiting, Failure to thrive, Medullary nephrocalcinosis, Nephrolithiasis, Letha... |
OMIM:143880 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Decreased proportio... |
ORPHA:169154 |
| Cronkhite-Canada Syndrome |
|
Alopecia, Dystrophic toenail, Sparse body hair, Abnormal fingernail morphology, Hypoplastic toena... |
ORPHA:2930 |
| Epidermolysis Bullosa, Junctional 4, Intermediate |
|
Dental enamel pits, Carious teeth |
OMIM:619787 |
| Timothy Syndrome |
|
Hypothyroidism, Hypothermia, Hypoglycemia |
OMIM:601005 |
| Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Abnormal dental enamel morphology, Supernumerary tooth, Enamel hypoplasia |
ORPHA:3196 |
| Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
| Woolly Hair Nevus |
|
Precocious puberty, Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Curly ... |
ORPHA:79414 |
| Flynn-Aird Syndrome |
|
Alopecia, Primary adrenal insufficiency, Type II diabetes mellitus, Abnormality of the thyroid gl... |
ORPHA:2047 |
| Immunodeficiency 48 |
|
Failure to thrive, Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, Impaired lympho... |
OMIM:269840 |
| Immunodeficiency, Common Variable, 5 |
|
Abnormal T cell count, Abnormal B cell count, Chronic decreased circulating total IgG |
OMIM:613495 |
| Premature Ovarian Failure 7 |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevate... |
OMIM:612964 |
| Immunodeficiency 10 |
|
Decreased circulating IgG level, Hypoglycemia, Decreased circulating IgA level, Splenomegaly, Aut... |
OMIM:612783 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Abnormal T cell count, Decreased lymphocyte proliferation in res... |
ORPHA:331206 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Polyphagia, Hyperinsulinemia, Obesity, Tall stature |
OMIM:618406 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Hypogonadism, Decreased testicular size, Obesity, Cachexia, Abnormal hair pattern, Short stature,... |
ORPHA:85293 |
| Premature Ovarian Failure 21 |
|
Decreased serum estradiol, Precocious puberty in females, Streak ovary, Elevated circulating foll... |
OMIM:620311 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Increased total bilirubin |
OMIM:174050 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes |
OMIM:610582 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Exocrine pancreatic insufficiency, Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:609812 |
| Erythrokeratodermia Variabilis |
|
Alopecia, Abnormal hair morphology, Generalized hirsutism, Weight loss, Abnormal testis morpholog... |
ORPHA:317 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hypoalbuminemia, Abnormality of tumor necrosis factor secretion, Increased circulating interferon... |
ORPHA:540 |
| Barth Syndrome |
|
Abnormality of neutrophils, Abnormal mitochondrial morphology |
ORPHA:111 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun... |
ORPHA:731 |
| Erythroleukemia, Familial, Susceptibility To |
|
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... |
OMIM:133180 |
| Glycogen Storage Disease Vi |
|
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Failure to thrive in infan... |
OMIM:232700 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
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Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... |
OMIM:620058 |
| Felty Syndrome |
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Cellulitis, Bone marrow hypocellularity, Lymphoma, Abnormal lymphocyte morphology, Splenomegaly, ... |
ORPHA:47612 |
| Hijazi-Reis Syndrome |
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Hyperbilirubinemia, Iris coloboma |
OMIM:301094 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
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Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Hypertriglyceridemia |
OMIM:619175 |
| Isolated Permanent Neonatal Diabetes Mellitus |
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Moderate albuminuria, Neonatal insulin-dependent diabetes mellitus, Ketonuria, Glycosuria, Pancre... |
ORPHA:99885 |
| Post-Traumatic Pituitary Deficiency |
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Decreased response to growth hormone stimulation test, Decreased testicular size, Panhypopituitar... |
ORPHA:95619 |
| Alstrom Syndrome |
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Nephritis, Elevated circulating hepatic transaminase concentration, Insulin-resistant diabetes me... |
OMIM:203800 |
| Bjornstad Syndrome |
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Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Al... |
OMIM:262000 |
| Immunodeficiency 104 |
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Failure to thrive secondary to recurrent infections, Splenomegaly, Lymphadenopathy, Hepatomegaly,... |
OMIM:608971 |
| Impacted Teeth, Multiple |
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Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
| Rabson-Mendenhall Syndrome |
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Postprandial hyperglycemia, Insulin resistance, Nephrocalcinosis, Long penis, Polydipsia, Precoci... |
ORPHA:769 |
| Vulvovaginal Gingival Syndrome |
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Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
| Laryngeal Neuroendocrine Tumor |
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Increased serum serotonin, Neuroendocrine neoplasm, Adrenocorticotropic hormone excess, Weight lo... |
ORPHA:100083 |
| 46,Xy Sex Reversal 11 |
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Elevated circulating luteinizing hormone level, Vanishing testis, Decreased serum testosterone co... |
OMIM:273250 |
| Hidrotic Ectodermal Dysplasia |
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Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Sparse eyebrow, Fine ... |
ORPHA:189 |
| Abdominal Obesity-Metabolic Syndrome 3 |
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Hyperglycemia, Type II diabetes mellitus, Hypertriglyceridemia, Hypercholesterolemia, Truncal obe... |
OMIM:615812 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
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Type I diabetes mellitus, Diarrhea, Proximal tubulopathy, Vomiting, Failure to thrive, Polyuria, ... |
OMIM:560000 |
| Alexander Disease |
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Self-injurious behavior, Precocious puberty, Failure to thrive, Hypothermia, Gait disturbance, Co... |
ORPHA:58 |
| Overlap Myositis |
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Proximal muscle weakness in upper limbs, Elevated circulating hepatic transaminase concentration,... |
ORPHA:206572 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
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Vomiting, Ketonuria, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Failu... |
OMIM:615453 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
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Cholestasis, Hepatosplenomegaly, Abnormal circulating IgG level, Arthralgia, Elevated circulating... |
OMIM:620376 |
| Immunodeficiency 89 And Autoimmunity |
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Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... |
OMIM:619632 |
| Pituicytoma |
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Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Increased circ... |
ORPHA:251623 |
| Functioning Gonadotropic Adenoma |
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Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f... |
ORPHA:91348 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
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Type I diabetes mellitus, Premature graying of hair, Abnormal hair morphology, Cachexia, Weight loss |
ORPHA:1979 |
| Combined Oxidative Phosphorylation Deficiency 37 |
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Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypoglycemia, Decreas... |
OMIM:618329 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
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Abnormal renal collecting system morphology, Gastroesophageal reflux, Methylmalonic aciduria, Hyp... |
ORPHA:17 |
| Biliary Atresia, Extrahepatic |
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Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin |
OMIM:210500 |
| Caspase 8 Deficiency |
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Decreased circulating IgG level, Failure to thrive, Decreased CD4:CD8 ratio, Decreased circulatin... |
OMIM:607271 |
| Agammaglobulinemia 8B, Autosomal Recessive |
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Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:619824 |
| Gne Myopathy |
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Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... |
ORPHA:602 |
| Familial Multiple Lipomatosis |
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Insulin resistance, Hyperlipidemia, Medulloblastoma, Overgrowth, Lipodystrophy, Odontogenic kerat... |
ORPHA:199276 |
| Lipodystrophy, Familial Partial, Type 7 |
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Diarrhea, Reduced subcutaneous adipose tissue, Loss of subcutaneous adipose tissue in limbs, Dysp... |
OMIM:606721 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
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Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
| Sweet Syndrome |
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Abnormal circulating interleukin concentration, Inflammation of the large intestine, Acne inversa... |
ORPHA:3243 |
| Combined Oxidative Phosphorylation Deficiency 38 |
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Failure to thrive, Decreased activity of mitochondrial ATP synthase complex, Decreased activity o... |
OMIM:618378 |
| Babesiosis |
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Hepatic failure, Leukopenia, Myalgia, Splenomegaly, Arthralgia, Fatigue, Thrombocytopenia, Hepato... |
ORPHA:108 |
| Merrf |
|
Multiple lipomas, Ragged-red muscle fibers, Myopathy |
ORPHA:551 |
| Whipple Disease |
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Insulin resistance, Ataxia, Gastrointestinal hemorrhage, Diarrhea, Polydipsia, Fever, Splenomegal... |
ORPHA:3452 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
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Sparse body hair, Non-obstructive azoospermia, Absence of pubertal development, Cryptorchidism, I... |
ORPHA:432 |
| Hypouricemia, Renal, 1 |
|
Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Urolithiasis, Proteinuria, Hyper... |
OMIM:220150 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Chronic lymphatic leukemia, Acute myeloid leukemia, Hematological neoplasm, Arthralgia, Weight lo... |
ORPHA:98849 |
| Schnitzler Syndrome |
|
Lymphoma, Myalgia, Leukocytosis, Splenomegaly, Hepatomegaly, Arthralgia, Fatigue, Lymphadenopathy... |
ORPHA:37748 |
| Acrokeratoderma, Hereditary Papulotranslucent |
|
Fine hair |
OMIM:101840 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
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Insulin resistance, Unilateral renal agenesis, Renal hypoplasia, Broad-based gait, Inguinal herni... |
OMIM:616541 |
| Hypertriglyceridemia 1 |
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Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
| Mu-Heavy Chain Disease |
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Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Weight l... |
ORPHA:100024 |
| Immunodeficiency 32B |
|
Hypoalbuminemia, Failure to thrive, Impaired oxidative burst, Abnormal circulating IgG level, Spl... |
OMIM:226990 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
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Premature adrenarche, Clitoral hypertrophy, Frontal balding, Decreased fertility, Weight loss, Ab... |
ORPHA:90794 |
| Isolated Polycystic Liver Disease |
|
Increased total bilirubin |
ORPHA:2924 |
| Ovarian Dysgenesis 9 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar... |
OMIM:619665 |
| Placental Insufficiency |
|
Insulin resistance, Small for gestational age, Hypoxemia |
ORPHA:439167 |
| Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
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High anterior hairline, Fine hair, Postnatal growth retardation, Long eyelashes, Labial hypoplasi... |
ORPHA:231137 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Insulin resistance, Joint contracture of the hand, Failure to thrive, Elbow flexion contracture, ... |
OMIM:214150 |
| Leptin Deficiency Or Dysfunction |
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Hypogonadism, Obesity, Polyphagia, Micropenis, Decreased serum leptin |
OMIM:614962 |
| Aicardi-Goutieres Syndrome 3 |
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Hepatosplenomegaly, Elevated circulating hepatic transaminase concentration, Thrombocytopenia |
OMIM:610329 |
| Hepatic Veno-Occlusive Disease |
|
Increased total bilirubin |
ORPHA:890 |
| Cholera |
|
Acute kidney injury, Diarrhea, Vomiting, Fever, Hypoglycemia, Lethargy, Decreased urine output, A... |
ORPHA:173 |
| Hypodontia-Dysplasia Of Nails Syndrome |
|
Ridged fingernail, Thin toenail, Fine hair, Hypoplastic fingernail, Abnormal fingernail morpholog... |
ORPHA:2228 |
| N-Acetylglutamate Synthase Deficiency |
|
Vomiting, Failure to thrive, Hypothermia, Aggressive behavior, Lethargy, Anorexia |
OMIM:237310 |
| Nonaka Myopathy |
|
Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Elevated cir... |
OMIM:605820 |
| Adrenal Hypoplasia, Congenital |
|
Precocious puberty, Failure to thrive, Absence of pubertal development, Azoospermia, Adrenal insu... |
OMIM:300200 |
| Seckel Syndrome 10 |
|
Insulin resistance, Acute pancreatitis, Elevated circulating luteinizing hormone level, Glycosuri... |
OMIM:617253 |
| Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Lymphoma, Decre... |
OMIM:240500 |
| Müllerian Aplasia And Hyperandrogenism |
|
High anterior hairline, Frontal balding, Abnormal vagina morphology, Abnormality of the ovary, Fa... |
ORPHA:247768 |
| Immunodeficiency 27A |
|
Hypoalbuminemia, Increased circulating IgG level, Hepatosplenomegaly, Leukocytosis, Splenomegaly,... |
OMIM:209950 |
| Tetrasomy 12P |
|
Short stature, Cachexia, Sparse hair, Sparse eyebrow |
ORPHA:884 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Insulin resistance, Elevated circulating growth hormone concentration, Enlarged kidney, Insulin-r... |
ORPHA:90301 |
| Lipoyltransferase 1 Deficiency |
|
Hyperprolinemia, Hyperglutaminemia, Increased total bilirubin |
OMIM:616299 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Exercise intolerance, Elevated circulating hepatic transaminase concentration, Failure to thrive,... |
OMIM:613561 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Hyperbilirubinemia, Increased serum bile acid concentration, Increased total iron binding capacity |
OMIM:616278 |
| Mitchell-Riley Syndrome |
|
Diarrhea, Annular pancreas, Pancreatic hypoplasia, Cholestasis, Hyperglycemia, Absent gallbladder... |
OMIM:615710 |
| Secondary Intestinal Lymphangiectasia |
|
Hypoalbuminemia, Abdominal colic, Decreased circulating IgG1 level, Secondary hyperaldosteronism,... |
ORPHA:90363 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Fever, Inability to walk, Elbow flexion contracture, Obesity, Hypothermia, Hip contracture, Const... |
OMIM:618493 |
| Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries |
ORPHA:2229 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
| Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
| Isolated Sedoheptulokinase Deficiency |
|
Postprandial hyperglycemia, Cholestatic liver disease, Hepatitis, Cholestasis, Renal insufficienc... |
ORPHA:440713 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Generalized hirsutism, Cachexia, Short stature |
ORPHA:1933 |
| Eem Syndrome |
|
Carious teeth, Selective tooth agenesis, Widely spaced teeth, Abnormal dental morphology, Abnorma... |
ORPHA:1897 |
| Preeclampsia/Eclampsia 1 |
|
Elevated circulatin |
