| 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 |
|
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... |
OMIM:620058 |
| Felty Syndrome |
|
Cellulitis, Bone marrow hypocellularity, Lymphoma, Abnormal lymphocyte morphology, Splenomegaly, ... |
ORPHA:47612 |
| Hijazi-Reis Syndrome |
|
Hyperbilirubinemia, Iris coloboma |
OMIM:301094 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Hypertriglyceridemia |
OMIM:619175 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Moderate albuminuria, Neonatal insulin-dependent diabetes mellitus, Ketonuria, Glycosuria, Pancre... |
ORPHA:99885 |
| Post-Traumatic Pituitary Deficiency |
|
Decreased response to growth hormone stimulation test, Decreased testicular size, Panhypopituitar... |
ORPHA:95619 |
| Alstrom Syndrome |
|
Nephritis, Elevated circulating hepatic transaminase concentration, Insulin-resistant diabetes me... |
OMIM:203800 |
| Bjornstad Syndrome |
|
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Al... |
OMIM:262000 |
| Immunodeficiency 104 |
|
Failure to thrive secondary to recurrent infections, Splenomegaly, Lymphadenopathy, Hepatomegaly,... |
OMIM:608971 |
| Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
| Rabson-Mendenhall Syndrome |
|
Postprandial hyperglycemia, Insulin resistance, Nephrocalcinosis, Long penis, Polydipsia, Precoci... |
ORPHA:769 |
| Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
| Laryngeal Neuroendocrine Tumor |
|
Increased serum serotonin, Neuroendocrine neoplasm, Adrenocorticotropic hormone excess, Weight lo... |
ORPHA:100083 |
| 46,Xy Sex Reversal 11 |
|
Elevated circulating luteinizing hormone level, Vanishing testis, Decreased serum testosterone co... |
OMIM:273250 |
| Hidrotic Ectodermal Dysplasia |
|
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Sparse eyebrow, Fine ... |
ORPHA:189 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Hyperglycemia, Type II diabetes mellitus, Hypertriglyceridemia, Hypercholesterolemia, Truncal obe... |
OMIM:615812 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Type I diabetes mellitus, Diarrhea, Proximal tubulopathy, Vomiting, Failure to thrive, Polyuria, ... |
OMIM:560000 |
| Alexander Disease |
|
Self-injurious behavior, Precocious puberty, Failure to thrive, Hypothermia, Gait disturbance, Co... |
ORPHA:58 |
| Overlap Myositis |
|
Proximal muscle weakness in upper limbs, Elevated circulating hepatic transaminase concentration,... |
ORPHA:206572 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Vomiting, Ketonuria, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Failu... |
OMIM:615453 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Cholestasis, Hepatosplenomegaly, Abnormal circulating IgG level, Arthralgia, Elevated circulating... |
OMIM:620376 |
| Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... |
OMIM:619632 |
| Pituicytoma |
|
Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Increased circ... |
ORPHA:251623 |
| Functioning Gonadotropic Adenoma |
|
Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f... |
ORPHA:91348 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Type I diabetes mellitus, Premature graying of hair, Abnormal hair morphology, Cachexia, Weight loss |
ORPHA:1979 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypoglycemia, Decreas... |
OMIM:618329 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Abnormal renal collecting system morphology, Gastroesophageal reflux, Methylmalonic aciduria, Hyp... |
ORPHA:17 |
| Biliary Atresia, Extrahepatic |
|
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin |
OMIM:210500 |
| Caspase 8 Deficiency |
|
Decreased circulating IgG level, Failure to thrive, Decreased CD4:CD8 ratio, Decreased circulatin... |
OMIM:607271 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:619824 |
| Gne Myopathy |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... |
ORPHA:602 |
| Familial Multiple Lipomatosis |
|
Insulin resistance, Hyperlipidemia, Medulloblastoma, Overgrowth, Lipodystrophy, Odontogenic kerat... |
ORPHA:199276 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Diarrhea, Reduced subcutaneous adipose tissue, Loss of subcutaneous adipose tissue in limbs, Dysp... |
OMIM:606721 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
| Sweet Syndrome |
|
Abnormal circulating interleukin concentration, Inflammation of the large intestine, Acne inversa... |
ORPHA:3243 |
| Combined Oxidative Phosphorylation Deficiency 38 |
|
Failure to thrive, Decreased activity of mitochondrial ATP synthase complex, Decreased activity o... |
OMIM:618378 |
| Babesiosis |
|
Hepatic failure, Leukopenia, Myalgia, Splenomegaly, Arthralgia, Fatigue, Thrombocytopenia, Hepato... |
ORPHA:108 |
| Merrf |
|
Multiple lipomas, Ragged-red muscle fibers, Myopathy |
ORPHA:551 |
| Whipple Disease |
|
Insulin resistance, Ataxia, Gastrointestinal hemorrhage, Diarrhea, Polydipsia, Fever, Splenomegal... |
ORPHA:3452 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
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 |
|
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 |
|
Insulin resistance, Unilateral renal agenesis, Renal hypoplasia, Broad-based gait, Inguinal herni... |
OMIM:616541 |
| Hypertriglyceridemia 1 |
|
Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
| Mu-Heavy Chain Disease |
|
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 |
|
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 |
|
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 |
|
Hypogonadism, Obesity, Polyphagia, Micropenis, Decreased serum leptin |
OMIM:614962 |
| Aicardi-Goutieres Syndrome 3 |
|
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 circulating hepatic transaminase concentration, Thrombocytopenia |
OMIM:189800 |
| Proteus Syndrome |
|
Cerebriform connective tissue nevus, Splenomegaly, Multiple lipomas, Hemangioma, Lipoma, Lymphang... |
OMIM:176920 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Decreased circulating IgG level, Type I diabetes mellitus, Failure to thrive, Lymphoma, Pancytope... |
OMIM:614700 |
| Shaheen Syndrome |
|
Carious teeth, Enamel hypoplasia |
OMIM:615328 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... |
ORPHA:98754 |
| Testicular Regression Syndrome |
|
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... |
ORPHA:983 |
| Nemaline Myopathy 2 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fiber splitting, Calf mus... |
OMIM:256030 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal mus... |
OMIM:601954 |
| Cyclic Neutropenia |
|
Cellulitis, Recurrent tonsillitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, Per... |
ORPHA:2686 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Tooth agenesis, Abnormal dent... |
ORPHA:1028 |
| Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Conjugated hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:243300 |
| Christianson Syndrome |
|
Cachexia, Thick eyebrow |
ORPHA:85278 |
| Van Der Woude Syndrome 2 |
|
Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate |
OMIM:606713 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm... |
ORPHA:247598 |
| Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega... |
OMIM:269600 |
| Temple Syndrome |
|
Precocious puberty, Decreased response to growth hormone stimulation test, Postnatal growth retar... |
ORPHA:254516 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Hypoglycemia, Decreased liver function, Failure to thrive, Thrombocytopenia |
ORPHA:67048 |
| Mehmo Syndrome |
|
Obesity, Micropenis, Hypoplasia of penis, Diabetes mellitus, Agitation |
ORPHA:85282 |
| Tularemia |
|
Ocular pain, Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Asthenia, Abnormal nasop... |
ORPHA:3392 |
| Woolly Hair |
|
Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality... |
ORPHA:170 |
| Primary Erythromelalgia |
|
Leukemia, Hypothermia |
ORPHA:90026 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia |
ORPHA:157973 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Proximal muscle weakness in upper limbs, Increased endomysial connective tissue, Lower limb muscl... |
OMIM:620068 |
| Developmental And Epileptic Encephalopathy 78 |
|
Inability to walk, Hypothermia |
OMIM:618557 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Broad-based gait, Congenital hypothyroidism, Increased body weight, Increased T3/T4 ratio, Consti... |
OMIM:614450 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function |
ORPHA:231393 |
| Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
| Fanconi-Bickel Syndrome |
|
Postprandial hyperglycemia, Generalized aminoaciduria, Intrahepatic cholestasis, Ketonuria, Glyco... |
OMIM:227810 |
| Premature Ovarian Failure 18 |
|
Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ... |
OMIM:619203 |
| Proprotein Convertase 1/3 Deficiency |
|
Diarrhea, Elevated circulating proinsulin concentration, Obesity, Reactive hypoglycemia, Decrease... |
OMIM:600955 |
| Gitelman Syndrome |
|
Diarrhea, Type II diabetes mellitus, Parathyroid adenoma, Urinary incontinence, Tubulointerstitia... |
ORPHA:358 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Fatigue, Neutropenia, Thrombocyt... |
ORPHA:231401 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Vomiting, Hypopituitarism, Hyperglycemia, Addictive alcohol use, Hypothyroidism, Hypercholesterol... |
ORPHA:90065 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w... |
ORPHA:206549 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Aplastic anemia, Hemophagocytosis, Hepatitis, Increased circulating ferritin concentration, Pancy... |
OMIM:300635 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Alopecia, Central hypothyroidism, Decreased serum testosterone concentration, Decreased testicula... |
ORPHA:453533 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... |
ORPHA:98793 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Type I diabetes mellitus, Hepatitis, Failure to thrive, Increased circulating IgE level, Decrease... |
OMIM:304790 |
| Rhabdoid Tumor |
|
Renal neoplasm, Neoplasm of the liver, Weight loss, Lymphadenopathy, Thrombocytopenia, Anemia, Ab... |
ORPHA:69077 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Type I diabetes mellitus, Limb-girdle muscular dystrophy, Hypocholesterolemia, Abnormal erythrocy... |
ORPHA:96180 |
| Laurence-Moon Syndrome |
|
Obesity, Type II diabetes mellitus, Renal insufficiency, Congenital hepatic fibrosis, Displacemen... |
ORPHA:2377 |
| Leptin Receptor Deficiency |
|
Decreased response to growth hormone stimulation test, Obesity, Abnormal eating behavior, Aggress... |
OMIM:614963 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated circulating hepatic transaminase concentration, Decreased specific anti-polysaccharide a... |
OMIM:614576 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Hypoalbuminemia, Failure to thrive, Decreased liver function, Cholestasis, Elevated circulating c... |
OMIM:608104 |
| Cog4-Cdg |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Hepatosple... |
ORPHA:263501 |
| Congenital Toxoplasmosis |
|
Elevated circulating hepatic transaminase concentration, Ascites, Failure to thrive in infancy, C... |
ORPHA:858 |
| Chylomicron Retention Disease |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypocholesterolemia, ... |
ORPHA:71 |
| Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Hypodontia, Carious teeth, Enamel hypoplasia, Oral mucosal blisters |
OMIM:226650 |
| Alexander Disease Type I |
|
Cachexia, Failure to thrive |
ORPHA:363717 |
| Hereditary Myopathy With Early Respiratory Failure |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Necrotizing myopathy, Skeletal m... |
ORPHA:178464 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Acute kidney injury, Diarrhea, Vomiting, Elevated circulating hepatic transaminase concentration,... |
ORPHA:542323 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... |
ORPHA:177904 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Failure to thrive, Splenomegaly, Hyperammonemia, Hepatomegaly, Pancreatitis, Thrombocytopenia, Ne... |
ORPHA:79312 |
| Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hep... |
OMIM:614480 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Failu... |
OMIM:603553 |
| Perrault Syndrome 4 |
|
Decreased serum estradiol, Obesity, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, ... |
OMIM:615300 |
| Autoimmune Lymphoproliferative Syndrome |
|
Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Autoimmune hemolytic ane... |
OMIM:601859 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Microcytic anemia, Increased circulating antibody level, Flexion contracture of finger, Increased... |
OMIM:256040 |
| Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Conjugated hyperbilirubinemia |
OMIM:214900 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... |
ORPHA:177901 |
| Bdv Syndrome |
|
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Obesity, Ty... |
OMIM:619326 |
| Immunodeficiency, Common Variable, 10 |
|
Decreased circulating IgG level, Recurrent pneumonia, Hypoglycemia, Frequent Giardia lamblia infe... |
OMIM:615577 |
| Transcobalamin Deficiency |
|
Decreased circulating IgG level, Lymphopenia, Pancytopenia, Decreased circulating IgA level, Thro... |
ORPHA:859 |
| Alpha-Heavy Chain Disease |
|
Lymphoma, Ascites, Splenomegaly, Hypocalcemia, Hepatomegaly, Dysgammaglobulinemia, Lymphadenopath... |
ORPHA:100025 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphoma, Splenomegaly, B-cell lymphoma, Fatigue, Weight loss, Lymphadenopathy, Hepatomegaly, Bre... |
ORPHA:86893 |
| Megaloblastic Anemia, Folate-Responsive |
|
Hyperbilirubinemia, Hyperhomocystinemia, Increased circulating ferritin concentration |
OMIM:601775 |
| Spinocerebellar Ataxia 48 |
|
Cachexia |
OMIM:618093 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Failure to thrive in infancy, Myalgia, Leukocytosis, Increased proportion of CD4-positive T cells... |
OMIM:617099 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Bone marrow hypocellularity, Type I diabetes mellitus, Decreased circulating IgG level, Hemophago... |
OMIM:301078 |
| Cleft Lip/Palate |
|
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg... |
ORPHA:199306 |
| Gaucher Disease Type 1 |
|
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Increased circulating antibody level, Cirrhosis,... |
ORPHA:77259 |
| Short Syndrome |
|
Insulin resistance, Abnormal dental enamel morphology, Inguinal hernia, Weight loss, Lipodystroph... |
ORPHA:3163 |
| Pancreatic And Cerebellar Agenesis |
|
Pancreatic hypoplasia, Hypoglycemia, Failure to thrive, Hyperglycemia, Reduced subcutaneous adipo... |
OMIM:609069 |
| Cernunnos-Xlf Deficiency |
|
Lymphopenia, Decreased circulating antibody level, Thrombocytopenia, B lymphocytopenia, Anemia, T... |
ORPHA:169079 |
| Immunodeficiency 47 |
|
Hepatic bridging fibrosis, Decreased circulating total IgG, Chronic decreased circulating total I... |
OMIM:300972 |
| Desmoplastic Small Round Cell Tumor |
|
Cachexia, Weight loss, Testicular neoplasm, Ovarian neoplasm, Neoplasm of the pancreas |
ORPHA:83469 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion |
OMIM:183350 |
| Immunodeficiency, Common Variable, 6 |
|
Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... |
OMIM:613496 |
| Hsd10 Mitochondrial Disease |
|
Abnormal mitochondrial morphology, Hypoglycemia, Elevated circulating tiglylglycine concentration |
OMIM:300438 |
| Aicardi-Goutieres Syndrome 6 |
|
Hepatomegaly, Hemolytic anemia, Splenomegaly, Thrombocytopenia |
OMIM:615010 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Conjugated hyperbilirubinemia, Type II diabetes mellitus, Elevated hepatic iron concentration, In... |
OMIM:616860 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Meningioma, Inc... |
ORPHA:189427 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Failure to thrive in infancy, Intrauterine growth retardation, Cachexia |
OMIM:616801 |
| Hypokalemic Periodic Paralysis |
|
Postprandial hyperglycemia, Adrenocortical adenoma |
ORPHA:681 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... |
OMIM:616828 |
| Immunodeficiency 69 |
|
Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentration, Hepatosplenome... |
OMIM:618963 |
| Welander Distal Myopathy |
|
Rimmed vacuoles, Distal amyotrophy, Mildly elevated creatine kinase |
OMIM:604454 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Increased LDL cholestero... |
ORPHA:98855 |
| Glycogen Storage Disease Ixa1 |
|
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Hyperuricemi... |
OMIM:306000 |
| Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Fine hair, Fragile nails |
ORPHA:500166 |
| Barth Syndrome |
|
Exercise intolerance, Elevated monolysocardiolipin/cardiolipin ratio, Failure to thrive, Cyclic n... |
OMIM:302060 |
| Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Decreased serum estradiol, Hypogonadism, Decreased testicular size, Reduced response to gonadotro... |
OMIM:616030 |
| Adrenocortical Carcinoma |
|
Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteronism, Incre... |
ORPHA:1501 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Acute pancreatitis, Elevated circulating hepatic transaminase concentration, Umbilical hernia, De... |
OMIM:608594 |
| Activated Pi3K-Delta Syndrome |
|
Recurrent tonsillitis, Failure to thrive, Lymphoma, Decreased circulating antibody level, Splenom... |
ORPHA:397596 |
| Immunodeficiency 18 |
|
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... |
OMIM:615615 |
| Hawkinsinuria |
|
Sparse hair, Hypothyroidism, Failure to thrive, Fine hair |
ORPHA:2118 |
| Infantile Sialic Acid Storage Disease |
|
High palate, Gingival overgrowth, Conjugated hyperbilirubinemia |
OMIM:269920 |
| Eosinophilic Fasciitis |
|
Cellulitis, Abnormal eosinophil morphology, Fasciitis, Myalgia, Myositis, Muscular edema, Eosinop... |
ORPHA:3165 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Decreased circulating iron concentration, Increased circulating IgE level, Hypereosinophilia, Abn... |
OMIM:212050 |
| Abetalipoproteinemia |
|
Hyperbilirubinemia, Acanthocytosis, Hepatic steatosis, Myopathy, Cirrhosis, Hepatomegaly, Hypotri... |
ORPHA:14 |
| Myopathy, Distal, With Rimmed Vacuoles |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ... |
OMIM:617158 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoalbuminemia, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentratio... |
OMIM:267700 |
| Smith-Kingsmore Syndrome |
|
Hypoglycemia, Umbilical hernia, Decreased circulating IgA level, Large for gestational age, Diast... |
OMIM:616638 |
| Exercise Intolerance, Riboflavin-Responsive |
|
Exercise intolerance, Ragged-red muscle fibers |
OMIM:616839 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Short stature, Cachexia |
ORPHA:1389 |
| Acute Myelomonocytic Leukemia |
|
Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia |
ORPHA:517 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Lymphadenitis, Failure to thrive, Lymp... |
ORPHA:911 |
| Exercise-Induced Malignant Hyperthermia |
|
Acute kidney injury, Vomiting, Oliguria, Hepatic failure, Decreased liver function, Malignant hyp... |
ORPHA:466650 |
| Griscelli Syndrome |
|
Bone marrow hypocellularity, Hepatitis, Abnormal circulating lipid concentration, Ascites, Leukop... |
ORPHA:381 |
| Perrault Syndrome 6 |
|
Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl... |
OMIM:617565 |
| Mitochondrial Myopathy, Infantile, Transient |
|
Decreased circulating carnitine concentration, Failure to thrive, Ragged-red muscle fibers, Incre... |
OMIM:500009 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... |
ORPHA:79644 |
| Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Z-band stream... |
OMIM:618655 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... |
ORPHA:90791 |
| Ovarian Dysgenesis 10 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Hypoplas... |
OMIM:619834 |
| Ovarian Dysgenesis 8 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Eunuchoid habitus, Hyp... |
OMIM:618187 |
| Late-Onset Junctional Epidermolysis Bullosa |
|
Carious teeth, Enamel hypoplasia, Oral mucosal blisters |
ORPHA:79406 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... |
ORPHA:444463 |
| Refractory Anemia |
|
Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi... |
ORPHA:98826 |
| Trichodysplasia-Xeroderma Syndrome |
|
Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Trichodysplasia, P... |
ORPHA:3361 |
| Atypical Werner Syndrome |
|
Neoplasm of the skin, Insulin-resistant diabetes mellitus, Neoplasm of the oral cavity, Hyperglyc... |
ORPHA:79474 |
| Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... |
OMIM:607594 |
| Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly, Fatigue, Weight loss, Lymphadenopathy, Hepatomegaly, Sarcoma, Mediast... |
ORPHA:66661 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Hypoglycemia, Decreased liver function, Hyperglycemia, Cyanosis, Impulsivity, Lethargy, Hyperacti... |
OMIM:620423 |
| Partial Androgen Insensitivity Syndrome |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ... |
ORPHA:90797 |
| Forsythe-Wakeling Syndrome |
|
Thrombocytopenia, Decreased body weight |
OMIM:613606 |
| Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Sparse hair, Cryptorchidism, Fine hair |
ORPHA:1174 |
| Microduplication Xp11.22P11.23 Syndrome |
|
Precocious puberty, Obesity |
ORPHA:217377 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Precocious puberty, Increased circulating prolactin concentration, Decreased response to growth h... |
ORPHA:91354 |
| Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Sparse hair, Small nail, Trichorrhexis nodosa, Decreased fertility, Nail dystrophy, Concave nail,... |
OMIM:234050 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Inguinal hernia, Hypothermia, Joint contracture |
OMIM:614498 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Cellulitis, Decreased proportion of CD4+CD25+ regulatory T cells, Type I diabetes mellitus, Decre... |
OMIM:606367 |
| Ethylene Glycol Poisoning |
|
Vomiting, Renal insufficiency, Hypothermia, Renal tubular dysfunction, Cyanosis, Hematuria, Addic... |
ORPHA:31826 |
| Squalene Synthase Deficiency |
|
Elbow flexion contracture, Hypocholesterolemia, Failure to thrive in infancy, Knee flexion contra... |
OMIM:618156 |
| Narcolepsy Type 1 |
|
Precocious puberty, Obesity, Male sexual dysfunction, Female sexual dysfunction |
ORPHA:2073 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Breast hypoplasia,... |
ORPHA:2235 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Hypermethioninemia, Elevated circulating S-adenosyl-L-homocysteine concentration, Hyperbilirubine... |
OMIM:614300 |
| Potocki-Lupski Syndrome |
|
Hypocholesterolemia, Hypothyroidism, Small for gestational age, Failure to thrive |
OMIM:610883 |
| Alg8-Cdg |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Abnormality of subcut... |
ORPHA:79325 |
| Premature Ovarian Failure 15 |
|
Irregular menstruation, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, ... |
OMIM:618096 |
| Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Abnormal circulating interleukin concentration, Symmetric polyarthritis, Synovitis, Arthritis, El... |
ORPHA:85435 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Premature adrenarche, Small scrotum, Absence of pubertal development, Type II diabetes mellitus, ... |
ORPHA:398079 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Cholestasis, Hepatic steatosis, Increased body weight, Cirrhosis, Hepatomegaly, Portal fibrosis, ... |
ORPHA:264580 |
| Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Failure ... |
OMIM:619644 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Woolly hair |
OMIM:610476 |
| Wilson Disease |
|
Proximal muscle weakness in lower limbs, Elevated circulating hepatic transaminase concentration,... |
ORPHA:905 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Recurrent hypoglycemia, Rhabdomyolysis, Increased body weight, Cirrhosis, Hepatomegaly, Pelvic gi... |
ORPHA:79240 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Elevated transferrin saturation, Unconjugated hyperbilirubinemia, Increased circulating iron conc... |
ORPHA:766 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Increased variability in muscle fiber diameter, Calf muscle pseudohypertrophy, Increased endomysi... |
ORPHA:353 |
| Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Reduced natural killer cell activity, Defective T c... |
OMIM:614493 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Ankle flexion contracture, Increased variability in muscle fiber diameter, Limb-girdle muscular d... |
OMIM:608099 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, EMG:... |
OMIM:253601 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 3 |
|
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Partial absence ... |
OMIM:620430 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Ketonuria, Methylmalonic aciduria, Hypoglycemia, Failure to thrive, Renal insufficiency, Hypother... |
ORPHA:79282 |
| Congenital Rubella Syndrome |
|
Type I diabetes mellitus, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Jaundice, Patent ... |
ORPHA:290 |
| Peroxisome Biogenesis Disorder 3B |
|
Failure to thrive, Elevated circulating phytanic acid concentration, Hypocholesterolemia, Hepatom... |
OMIM:266510 |
| Hepatoportal Sclerosis |
|
Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of t... |
ORPHA:64743 |
| Bloom Syndrome |
|
Insulin resistance, Neoplasm of the skin, Gastroesophageal reflux, Small for gestational age, Lym... |
ORPHA:125 |
| Fetal Gaucher Disease |
|
Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly, Flexion co... |
ORPHA:85212 |
| Progressive Familial Intrahepatic Cholestasis |
|
Abnormality of thrombocytes, Failure to thrive, Cholestasis, Neoplasm, Splenomegaly, Hypocalcemia... |
ORPHA:172 |
| Orthostatic Hypotension 1 |
|
Intermittent hypothermia, Neonatal hypoglycemia, Reduced circulating prolactin concentration, Noc... |
OMIM:223360 |
| Propionic Acidemia |
|
Failure to thrive, Hypoglycemia, Pancytopenia, Hyperglycinemia, Hyperammonemia, Hepatomegaly, Pan... |
OMIM:606054 |
| Essential Thrombocythemia |
|
Acute leukemia, Abnormality of thrombocytes, Erythromelalgia, Chest pain, Leukocytosis, Splenomeg... |
ORPHA:3318 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Increased LDL cholestero... |
ORPHA:98863 |
| Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Exercise intolerance, Chest pain, Lower limb pain, Myalgia, Ragged-red muscle fibers, Multiple li... |
ORPHA:1349 |
| Immunodeficiency 22 |
|
Decreased circulating IgG level, Failure to thrive, Ascites, Decreased circulating IgA level, Dec... |
OMIM:615758 |
| Bardet-Biedl Syndrome 1 |
|
Insulin resistance, Hepatic fibrosis, Hypogonadism, Obesity, Gait imbalance, Biliary tract abnorm... |
OMIM:209900 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Umbilical hernia, Decreas... |
OMIM:218700 |
| Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Increased LDL cholestero... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Increased LDL cholestero... |
ORPHA:98853 |
| Bile Acid Conjugation Defect 1 |
|
Conjugated hyperbilirubinemia |
OMIM:619232 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
| Aicardi-Goutieres Syndrome 4 |
|
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Pancytopenia, Spleno... |
OMIM:610333 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Primary gonadal insufficiency, Hepatic steatosis, Insulin-resistant diabetes mellitus, Hypertrigl... |
ORPHA:436182 |
| Mevalonic Aciduria |
|
Elevated circulating hepatic transaminase concentration, Fluctuating splenomegaly, Failure to thr... |
OMIM:610377 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hamstri... |
OMIM:300696 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce... |
ORPHA:99901 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Insulin resistance, Premature adrenarche, Precocious puberty, Gastroesophageal reflux, Vomiting, ... |
ORPHA:96182 |
| Ovarian Fibrothecoma |
|
Abnormality of the ovary, Gonadal calcification, Metrorrhagia, Hirsutism, Abnormal endometrium mo... |
ORPHA:314478 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Myalgia, Splenomegaly, Eosinophilia, Hepatomegaly, Myeloproliferative disorder |
OMIM:607685 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatic failure, Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Fa... |
OMIM:617872 |
| Wolcott-Rallison Syndrome |
|
Hypoalbuminemia, Neonatal insulin-dependent diabetes mellitus, Elevated circulating hepatic trans... |
ORPHA:1667 |
| Bachmann-Bupp Syndrome |
|
Thin upper lip vermilion, High palate, Hyperbilirubinemia, Hypoglycemia |
OMIM:619075 |
| Preeclampsia |
|
Type I diabetes mellitus, Abnormality of the hepatic vasculature, Elevated circulating hepatic tr... |
ORPHA:275555 |
| Specific Granule Deficiency 2 |
|
Failure to thrive, Absent neutrophil specific granules, Amelogenesis imperfecta, Thrombocytopenia... |
OMIM:617475 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Decreased proportion of memory B cells, Elevated circulating hepatic transaminase concentration, ... |
ORPHA:79124 |
| Prader-Willi Syndrome |
|
Premature adrenarche, Small scrotum, Central adrenal insufficiency, Cryptorchidism, Hypoplastic l... |
ORPHA:739 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Keloids, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Hypergonadotropic hypogonadism |
ORPHA:3085 |
| X-Linked Sideroblastic Anemia |
|
Elevated circulating hepatic transaminase concentration, Glucose intolerance, Splenomegaly, Fatig... |
ORPHA:75563 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Temperature instability, Dysdiadochokinesis, Urinary retention, Recurrent urinary tract infection... |
ORPHA:99027 |
| Acquired Hypertrichosis Lanuginosa |
|
Fine hair, Abnormal eyebrow morphology, Generalized hirsutism, Weight loss, Hypopigmentation of h... |
ORPHA:2221 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Hypothermia |
OMIM:614654 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Failure to thrive, Elevated circulating propionylcarnitine concentration, Inguinal hernia, Hypome... |
OMIM:614857 |
| Leprechaunism |
|
Postprandial hyperglycemia, Insulin resistance, Nephrocalcinosis, Long penis, Central hypothyroid... |
ORPHA:508 |
| Pyruvate Carboxylase Deficiency |
|
Abnormal temper tantrums, Vomiting, Tip-toe gait, Hypoglycemia, Failure to thrive, Anorexia, Hype... |
ORPHA:3008 |
| Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl... |
ORPHA:2585 |
| Slc35A1-Cdg |
|
Cellulitis, Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia, Hypoxemia |
ORPHA:238459 |
| Woodhouse-Sakati Syndrome |
|
Alopecia, Elevated circulating thyroid-stimulating hormone concentration, Fine hair, Decreased se... |
OMIM:241080 |
| Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Increased connective tissue, ... |
OMIM:226670 |
| Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Precocious puberty, Postnatal growth retardation, Obesity, Intrauterine growth retardation |
ORPHA:254525 |
| Woolly Hair, Autosomal Recessive 3 |
|
Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Curly hair, Sparse hair, Sparse scalp hair |
OMIM:616760 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hematocolpos, Sparse lateral eyebrow, Abnormal female external genitalia morphology, Aplasia of t... |
OMIM:277000 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Anemia, Chronic neutropenia, Thrombocytopenia |
OMIM:619302 |
| 46,Xx Sex Reversal 2 |
|
Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased serum tes... |
OMIM:278850 |
| Amed Syndrome, Digenic |
|
Bone marrow hypocellularity, Failure to thrive, Leukopenia, Acute myeloid leukemia, Adrenal hypop... |
OMIM:619151 |
| Renal Glucosuria |
|
Enuresis nocturna, Polydipsia, Glycosuria, Polyphagia, Polyuria |
OMIM:233100 |
| Immunodeficiency 92 |
|
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:619652 |
| Wolman Disease |
|
Adrenal calcification, Adrenal insufficiency, Cachexia, Growth delay |
ORPHA:75233 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated circulating hepatic transaminase concentration, Umbilical hernia, Decreased serum leptin... |
OMIM:269700 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Hemophagocytosis, Increased circulating ferritin concentration, Subcutaneous panniculitis-like T-... |
OMIM:618398 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
| Foxp1 Syndrome |
|
Failure to thrive, Attention deficit hyperactivity disorder, Repetitive compulsive behavior, Cons... |
ORPHA:391372 |
| Pelger-Huet Anomaly |
|
Giant platelets, Failure to thrive, Umbilical hernia, Foot dorsiflexor weakness, Hyposegmentation... |
OMIM:169400 |
| Gray Platelet Syndrome |
|
Myelodysplasia, Abnormality of thrombocytes, Splenomegaly, Thrombocytopenia |
ORPHA:721 |
| Cardiogenic Shock |
|
Hepatomegaly, Cyanosis, Oliguria, Hypoxemia |
ORPHA:97292 |
| Premature Ovarian Failure 13 |
|
Female infertility, Amenorrhea, Elevated circulating follicle stimulating hormone level, Oligomen... |
OMIM:617442 |
| Schimke Immuno-Osseous Dysplasia |
|
Bone marrow hypocellularity, Abnormal proportion of naive CD4 T cells, Impaired T cell function, ... |
ORPHA:1830 |
| Eosinophilia, Familial |
|
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia |
OMIM:131400 |
| Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Alopecia, Sparse eyebrow, Dystrophic toenail, Fine hair, Dystrophic fingernails, Hypothyroidism, ... |
ORPHA:1882 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Hypoglycemia, D... |
ORPHA:42 |
| Folate Malabsorption, Hereditary |
|
Failure to thrive, Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia |
OMIM:229050 |
| Pili Torti |
|
Alopecia, Abnormal eyebrow morphology, Pili torti, Brittle hair, Abnormality of hair texture, Abn... |
ORPHA:2889 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Increased circulating cortisol level, Primary hypercortisolism, Dorsocervical fat pad, Adrenal hy... |
OMIM:615830 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Lymphopenia, Hepatosplenomegaly, Pancytopenia, Arthralgia, Hepatomegaly, Elevated circulating C-r... |
OMIM:615688 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Failure to thrive, Lymphopenia, Hepatosplenomegaly, Leukopenia, Inguinal hernia, Splenomegaly, My... |
OMIM:612541 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Precocious puberty, Maturity-onset diabetes of the young, Postnatal growth retardation, Obesity, ... |
ORPHA:254531 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Elevated circulating aspartate aminotransferase concentration, Hypocholesterolemia, Acanthocytosi... |
OMIM:615558 |
| Polyembryoma |
|
Increased serum serotonin, Irregular menstruation, Abnormal circulating gonadotropin concentratio... |
ORPHA:180229 |
| 48,Xxyy Syndrome |
|
Gastroesophageal reflux, Lymphoma, Abnormal dental enamel morphology, Tall stature, Obesity, Type... |
ORPHA:10 |
| Sengers Syndrome |
|
Exercise intolerance, Decreased activity of mitochondrial complex IV, Myopathy, Fatigue, Decrease... |
OMIM:212350 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Failure to thrive, Hypoglycemia, Leukopenia, Hyperglycinemia, Hyperammonemia, Pancreatitis, Throm... |
OMIM:251000 |
| Muscle Filaminopathy |
|
Proximal muscle weakness in lower limbs, Muscle fiber splitting, Extremely elevated creatine kina... |
ORPHA:171445 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hypoglycemia, Recurrent respiratory infections, Hyperlipidemia, Hyperuricemia, Recurrent infections |
ORPHA:364 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
| Pseudo-Torch Syndrome 1 |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Decreased liver funct... |
OMIM:251290 |
| Uncombable Hair Syndrome |
|
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
| Colchicine Poisoning |
|
Diarrhea, Vomiting, Oliguria, Renal insufficiency, Nausea |
ORPHA:31824 |
| Relapsing Fever |
|
Elevated circulating hepatic transaminase concentration, Increased total bilirubin, Elevated circ... |
ORPHA:91547 |
| Immunodeficiency, Common Variable, 3 |
|
Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ... |
OMIM:613493 |
| Premature Ovarian Failure 6 |
|
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... |
OMIM:612310 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Hypoalbuminemia, Bone marrow hypocellularity, Leukopenia, Splenomegaly, Hepatomegaly, Patent duct... |
OMIM:617303 |
| Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-positive T ce... |
OMIM:312863 |
| Gaucher Disease, Type Iii |
|
Pancytopenia, Splenomegaly, Decreased body weight, Thrombocytopenia, Hepatomegaly |
OMIM:231000 |
| Ring Chromosome 10 Syndrome |
|
Intrauterine growth retardation, Cachexia |
ORPHA:1438 |
| Distal Xq28 Microduplication Syndrome |
|
Hypoplasia of the maxilla, Neonatal hyperbilirubinemia, Dental crowding, Thick lower lip vermilio... |
ORPHA:293939 |
| Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth |
|
Natal tooth |
OMIM:243185 |
| Teeth Present At Birth |
|
Natal tooth |
OMIM:187050 |
| Fanconi Anemia, Complementation Group G |
|
Anemia, Neutropenia, Thrombocytopenia, Leukemia, Myelodysplasia |
OMIM:614082 |
| Obesity |
|
Decreased resting energy expenditure, Obesity, Increased waist to hip ratio |
OMIM:601665 |
| Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Hypoplasia of penis, Gastroesophageal reflux, Hypothermia |
ORPHA:168593 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Hip flexo... |
ORPHA:266 |
| Boutonneuse Fever |
|
Elevated circulating hepatic transaminase concentration, Cervical lymphadenopathy, Leukopenia, My... |
ORPHA:83313 |
| Diffuse Neonatal Hemangiomatosis |
|
Ascites, Hepatomegaly, Patent ductus arteriosus, Hemangiomatosis, Thrombocytopenia, Anemia, Hyper... |
ORPHA:2123 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Precocious puberty, Abnormal circulating testosterone concentration, Frontal balding, Increased c... |
ORPHA:786 |
| Dubowitz Syndrome |
|
Decreased circulating IgG level, Aplastic anemia, Lymphoma, Hypocholesterolemia, Decreased circul... |
OMIM:223370 |
| Refractory Anemia With Excess Blasts |
|
Abnormal mean corpuscular volume, Bone marrow hypocellularity, Leukocytosis, Anemia of inadequate... |
ORPHA:86839 |
| Bardet-Biedl Syndrome 12 |
|
Hypogonadism, Vaginal atresia, Obesity, Hydrometrocolpos |
OMIM:615989 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypercholesterolemia, Hypoglycemic seizures, Incr... |
OMIM:620211 |
| Temple Syndrome |
|
Precocious puberty, Maturity-onset diabetes of the young, Obesity, Hypercholesterolemia, Truncal ... |
OMIM:616222 |
| Peritoneal Cystic Mesothelioma |
|
Weight loss, Dyspareunia, Metrorrhagia, Menorrhagia |
ORPHA:168816 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating IgG level, Lymphopenia, Leukopenia, Splenomegaly, Decreased circulating tot... |
OMIM:620210 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Conjugated hyperbilirubinemia, Hyperammonemia, Hypoglycemia, Elevated circulating alpha-fetoprote... |
OMIM:617049 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Short stature, Severe failure to thrive, Cachexia, Intrauterine growth retardation |
ORPHA:371364 |
| Oculopharyngeal Muscular Dystrophy 1 |
|
Facial palsy, Limb muscle weakness, Ragged-red muscle fibers, Elevated circulating creatine kinas... |
OMIM:164300 |
| Non-Involuting Congenital Hemangioma |
|
Visceral hemangioma, Midfrontal capillary hemangioma, Hemangioma, Thrombocytopenia, Hepatic heman... |
ORPHA:141179 |
| Galactokinase Deficiency |
|
Small for gestational age, Failure to thrive, Hypoglycemia, Hepatosplenomegaly, Hyperinsulinemia,... |
ORPHA:79237 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Ankle flexion contracture, Muscular dystrophy, Elevated circulating hepatic transaminase concentr... |
OMIM:608799 |
| Ullrich Congenital Muscular Dystrophy |
|
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle... |
ORPHA:75840 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Cellulitis, Abnormally low T cell receptor excision circle level, Decreased circulating IgG level... |
OMIM:618986 |
| Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Abnormal circulating thyroglobulin concentration, Conjugated hyperbilirubinemia |
ORPHA:95715 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Acute kidney injury, Diarrhea, Anuria, Fever, Hyperlipidemia, Hemolytic-uremic syndrome |
OMIM:235400 |
| Sandhoff Disease, Adult Form |
|
Proximal muscle weakness in lower limbs, Muscle fiber atrophy, Upper limb muscle weakness, Elevat... |
ORPHA:309169 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio... |
OMIM:619463 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Gingival bleeding, Increased circulating iron concentration, Hyperbilirubinemia, Increased total ... |
ORPHA:98870 |
| Congenital Myopathy 10A, Severe Variant |
|
Increased variability in muscle fiber diameter, Failure to thrive, Camptodactyly of finger, Eleva... |
OMIM:614399 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin |
OMIM:618528 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Hepatic failure, Fever, Failure to thrive, Gait ataxia, Hypothermia, Multiple glomerular cysts, A... |
ORPHA:255210 |
| Premature Ovarian Failure 5 |
|
Reduced antral follicle count, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Prematu... |
OMIM:611548 |
| Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Failure to thrive, Hypocholesterolemia, Decreased LDL cholesterol concentration, Arthralgia, Dela... |
OMIM:616834 |
| Mirage Syndrome |
|
Hypoglycemia, Lymphopenia, Leukopenia, Myelodysplasia, Adrenal insufficiency, Decreased body weig... |
OMIM:617053 |
| Monilethrix |
|
Alopecia, Nail dystrophy, Nail dysplasia, Brittle hair, Abnormality of hair texture, Sparse hair |
OMIM:158000 |
| Nephronophthisis-Like Nephropathy 2 |
|
Polydipsia, Recurrent fever, Stage 5 chronic kidney disease, Renal insufficiency, Polyuria, Tubul... |
OMIM:619468 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Precocious puberty, Maturity-onset diabetes of the young, Postnatal growth retardation, Obesity, ... |
ORPHA:96184 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Failure to thrive, Hypomagnesemia, Pancytopenia, Leukopenia, Hyperuricemia, Hyponatremia, Type 2 ... |
OMIM:613845 |
| Menkes Disease |
|
Gastrointestinal hemorrhage, Atypical scarring of skin, Chondrocalcinosis, Hypoglycemia, Umbilica... |
ORPHA:565 |
| Clouston Syndrome |
|
Alopecia, Sparse eyebrow, Small nail, Fine hair, Alopecia totalis, Brittle hair, Nail dystrophy, ... |
OMIM:129500 |
| Vaginal Atresia |
|
Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Vaginal hematocele, Transverse va... |
ORPHA:65681 |
| Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
| Myopathy, Myofibrillar, 5 |
|
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting, Eleva... |
OMIM:609524 |
| Immune Dysregulation, Autoimmunity, And Autoinflammation |
|
Increased circulating interleukin 6 concentration, Increased circulating interleukin 8 concentrat... |
OMIM:620514 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Rimmed vacuoles, Limb-girdle muscular dystrophy, Shoulder girdle muscle weakness, Myopathy, Eleva... |
OMIM:609115 |
| Trichothiodystrophy 1, Photosensitive |
|
Small nail, Fine hair, Hypogonadism, Trichorrhexis nodosa, Tiger tail banding, Nail dystrophy, Tr... |
OMIM:601675 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Decreased circulating carnitine concentration, Abnormality of the liver, Ragged-red muscle fibers... |
ORPHA:254864 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Fine hair, Intrauterine growth retardation, Cryptorchidism, Hypothyroidism, Delayed puberty, Shor... |
OMIM:616817 |
| Jalili Syndrome |
|
Carious teeth, Yellow-brown discoloration of the teeth, Retinal pigment epithelial mottling, Enam... |
OMIM:217080 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Bifid scrotum, Microphallus, Hypoplastic fingernail, Postnatal growth retardation, Intrauterine g... |
ORPHA:397590 |
| Myopathy, Distal, 5 |
|
Rimmed vacuoles, Muscle fiber splitting, Distal amyotrophy, Myopathy, Weakness of facial musculat... |
OMIM:617030 |
| Systemic Lupus Erythematosus 17 |
|
Lymphopenia, Leukopenia, Arthralgia, Thrombocytopenia, Autoimmune thrombocytopenia |
OMIM:301080 |
| Trichohepatoenteric Syndrome 2 |
|
Failure to thrive, Trichorrhexis nodosa, Intrauterine growth retardation, Woolly hair, Uncombable... |
OMIM:614602 |
| Lymphoproliferative Syndrome 2 |
|
Decreased lymphocyte proliferation in response to mitogen, Aplastic anemia, Hemophagocytosis, Lym... |
OMIM:615122 |
| Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
|
Rimmed vacuoles, Shoulder girdle muscle atrophy, Peroneal muscle atrophy, Z-band streaming, Foot ... |
OMIM:181400 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Increased endomy... |
OMIM:608423 |
| Pituitary Hormone Deficiency, Combined, 6 |
|
Hyperbilirubinemia, Neonatal hypoglycemia, Hypoglycemia |
OMIM:613986 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Failure to thrive, Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymphadeno... |
OMIM:618495 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... |
OMIM:208085 |
| Multiminicore Myopathy |
|
Minicore myopathy, Proximal muscle weakness in lower limbs, Muscular dystrophy, Proximal muscle w... |
ORPHA:598 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Failure to thrive, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Facial palsy |
OMIM:615085 |
| Premature Ovarian Failure 8 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Elevated... |
OMIM:615723 |
| Hypotrichosis 7 |
|
Abnormal sweat gland morphology, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axill... |
OMIM:604379 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Precocious puberty, Failure to thrive, Abnormal circulating aldosterone, Increased circulating AC... |
OMIM:614736 |
| Sialidosis Type 2 |
|
Skeletal muscle atrophy, Umbilical hernia, Ascites, Splenomegaly, Inguinal hernia, Hepatomegaly, ... |
ORPHA:87876 |
| Gamma-Heavy Chain Disease |
|
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegaly, Fatigue,... |
ORPHA:100026 |
| Classic Hodgkin Lymphoma |
|
Bone marrow hypocellularity, Lymphoma, Chest pain, Neoplasm, Splenomegaly, Fatigue, Weight loss, ... |
ORPHA:391 |
| Transaldolase Deficiency |
|
Hepatosplenomegaly, Abnormal circulating glutamine concentration, Increased serum bile acid conce... |
ORPHA:101028 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Hypoglycemic seizures, Hyperbilirubinemia |
OMIM:609734 |
| Monilethrix |
|
Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Slow-growing hair, Brittle hair, Abnorma... |
ORPHA:573 |
| 46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Ambiguous genitalia, H... |
ORPHA:752 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Ridged fingernail, Fine hair, Supernumerary nipple, Abnormal fingernail morphology, Thin eyebrow,... |
ORPHA:1433 |
| Spastic Paraplegia Type 7 |
|
Upper limb muscle weakness, Lower limb muscle weakness, Lower limb pain, Ragged-red muscle fibers... |
ORPHA:99013 |
| Acute Panmyelosis With Myelofibrosis |
|
Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Low back ... |
ORPHA:86843 |
| Gaucher Disease Type 2 |
|
Hepatomegaly, Flexion contracture, Splenomegaly |
ORPHA:77260 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Hypothermia |
OMIM:616501 |
| Distal Myopathy, Tateyama Type |
|
Calf muscle hypoplasia, Increased variability in muscle fiber diameter, Abnormal muscle fiber pro... |
ORPHA:488650 |
| Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... |
OMIM:619130 |
| Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Fatigu... |
ORPHA:521 |
| Bardet-Biedl Syndrome 2 |
|
Hypogonadism, Obesity, Diabetes mellitus |
OMIM:615981 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Cachexia, Neonatal death |
OMIM:618186 |
| Immunodeficiency, Common Variable, 7 |
|
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul... |
OMIM:614699 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Bone marrow hypocellularity, Abnormality of the hepatic vasculature, Nodular regenerative hyperpl... |
ORPHA:210136 |
| Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Angulated muscle fibers, Shoulder girdle muscle weakness, Weakness of facial musculature, Fatigue... |
OMIM:619477 |
| Monosomy 13Q34 |
|
Insulin resistance, Hematochezia, Obesity, Hepatic steatosis, Fetal pyelectasis |
ORPHA:96168 |
| Non-Functioning Pituitary Adenoma |
|
Hypopituitarism, Central adrenal insufficiency, Decreased fertility in females, Female hypogonadi... |
ORPHA:91349 |
| Immunodeficiency 76 |
|
Lymphopenia, Splenomegaly, B-cell lymphoma, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia |
OMIM:619164 |
| Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Decreased serum estradiol, Decreased serum testosterone concentration, Hypothalamic gonadotropin-... |
OMIM:618841 |
| Autosomal Dominant Spastic Paraplegia Type 29 |
|
Hyperbilirubinemia |
ORPHA:101009 |
| Sézary Syndrome |
|
Neoplasm of the skin, Skeletal muscle atrophy, Lymphoma, Abnormal lymphocyte morphology, Splenome... |
ORPHA:3162 |
| Immunodeficiency 46 |
|
Failure to thrive, Neutropenia, Anemia, Decreased circulating antibody level, Intermittent thromb... |
OMIM:616740 |
| Chylomicron Retention Disease |
|
Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Decreased LDL chole... |
OMIM:246700 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Small scrotum, Alopecia, Fine hair, Hypogonadism, Intrauterine growth retardation, Cryptorchidism |
ORPHA:228390 |
| Congenital Myopathy 14 |
|
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle... |
OMIM:618414 |
| Avian Influenza |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatitis, Lymphopenia,... |
ORPHA:454836 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Hepatic fibrosis, Severe B lymphocytopenia, Decreased circulating IgG level, El... |
OMIM:620005 |
| Xfe Progeroid Syndrome |
|
Severe short stature, Premature ovarian insufficiency, Cachexia, Failure to thrive |
OMIM:610965 |
| Angioma Serpiginosum, X-Linked |
|
Sparse hair, Nail dystrophy, Fine hair |
OMIM:300652 |
| Prolidase Deficiency |
|
Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, I... |
OMIM:170100 |
| Myopathy, Myofibrillar, 3 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dista... |
OMIM:609200 |
| Distal Myopathy, Welander Type |
|
Rimmed vacuoles, Distal upper limb amyotrophy, Foot dorsiflexor weakness, Myopathy, EMG: myopathi... |
ORPHA:603 |
| Shwachman-Diamond Syndrome |
|
Aplastic anemia, Hypopituitarism, Pancytopenia, Increased serum bile acid concentration, Impaired... |
ORPHA:811 |
| Shigellosis |
|
Hepatic failure, Microangiopathic hemolytic anemia, Hypoglycemia, Cholestasis, Asthenia, Failure ... |
ORPHA:810 |
| Familial Glucocorticoid Deficiency |
|
Precocious puberty, Leydig cell neoplasia, Abnormal circulating adrenocorticotropin concentration... |
ORPHA:361 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke... |
OMIM:619041 |
| Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
| Prolactinoma |
|
Central adrenal insufficiency, Decreased fertility in females, Elevated circulating growth hormon... |
ORPHA:2965 |
| Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hyperbilirubinemia |
OMIM:266120 |
| Diffuse Cutaneous Mastocytosis |
|
Abnormality of the spleen, Abnormality of the liver, Lymphocytosis, Lymphadenopathy, Hepatomegaly... |
ORPHA:79456 |
| Transaldolase Deficiency |
|
Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Failure to thrive, Hepatosple... |
OMIM:606003 |
| Frasier Syndrome |
|
Decreased serum estradiol, Streak ovary, Ambiguous genitalia, male, Male pseudohermaphroditism, G... |
ORPHA:347 |
| Noonan Syndrome 12 |
|
Decreased response to growth hormone stimulation test, Lymphopenia, Glabellar hemangioma, Thrombo... |
OMIM:618624 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
| Graves Disease |
|
Graves disease, Goiter, Increased circulating free T3, Onycholysis, Weight loss, Increased circul... |
OMIM:275000 |
| Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a... |
OMIM:159550 |
| Trichothiodystrophy 5, Nonphotosensitive |
|
Sparse eyebrow, Reduced hair sulfur content, Decreased testicular size, Panhypopituitarism, Tiger... |
OMIM:300953 |
| Neuraminidase Deficiency |
|
Skeletal muscle atrophy, Ascites, Inguinal hernia, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacu... |
OMIM:256550 |
| Combined Oxidative Phosphorylation Deficiency 6 |
|
Increased serum pyruvate, Decreased activity of mitochondrial complex IV, Ragged-red muscle fiber... |
OMIM:300816 |
| Idiopathic Achalasia |
|
Weight loss |
ORPHA:930 |
| Ectodermal Dysplasia 4, Hair/Nail Type |
|
Abnormal sweat gland morphology, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dys... |
OMIM:602032 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Fatty re... |
OMIM:618848 |
| Spherocytosis, Type 4 |
|
Hyperbilirubinemia |
OMIM:612653 |
| Harderoporphyria |
|
Neonatal hyperbilirubinemia, Increased circulating ferritin concentration |
OMIM:618892 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Nail dysplasia, Cachexia, Nail dystrophy |
OMIM:175500 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic re... |
OMIM:300718 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Rimmed vacuoles, Muscular dystrophy, Shoulder girdle muscle weakness, Myalgia, Elevated circulati... |
OMIM:603511 |
| Splenoportal Vascular Anomalies |
|
Hepatic fibrosis, Ascites, Splenomegaly, Hyperammonemia, Cirrhosis, Anomalous splenoportal venous... |
OMIM:271500 |
| Majeed Syndrome |
|
Failure to thrive, Myalgia, Leukocytosis, Splenomegaly, Cachexia, Arthralgia, Weight loss, Hypoch... |
ORPHA:77297 |
| Glycogen Storage Disease Ixb |
|
Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content, Hepatomegaly, Incr... |
OMIM:261750 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Unexplained fevers, Vomiting, Polydipsia, Failure to thrive, Megacystis, Constipation, Polyuria, ... |
OMIM:304800 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Precocious puberty, Gonadal dysgenesis, Hypogonadism, Cryptorchidism, Growth delay, Synophrys |
ORPHA:3306 |
| Beta-Thalassemia Intermedia |
|
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Anemia of inadequa... |
ORPHA:231222 |
| Bone Marrow Failure Syndrome 4 |
|
Bone marrow hypocellularity, Leukopenia, Thrombocytopenia, Anemia, Decreased circulating antibody... |
OMIM:618116 |
| Amelocerebrohypohidrotic Syndrome |
|
Abnormal dental enamel morphology, Abnormality of dental color, Amelogenesis imperfecta, Yellow-b... |
ORPHA:1946 |
| Classic Mycosis Fungoides |
|
Neoplasm of the skin, Lymphoma, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy, He... |
ORPHA:2584 |
| Aromatase Deficiency |
|
Insulin resistance, Tall stature, Obesity, Hyperlipidemia, Type II diabetes mellitus, Hepatic ste... |
ORPHA:91 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Unexplained fevers, Vomiting, Polydipsia, Failure to thrive, Megacystis, Constipation, Polyuria, ... |
OMIM:125800 |
| Beta-Thalassemia |
|
Cholelithiasis, Hepatitis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Hy... |
ORPHA:848 |
| Gitelman Syndrome |
|
Ataxia, Hypocalciuria, Enuresis, Renal magnesium wasting, Polydipsia, Vomiting, Recurrent fever, ... |
OMIM:263800 |
| Legionnaires Disease |
|
Cellulitis, Bone marrow hypocellularity, Hepatitis, Lymphopenia, Chest pain, Myalgia, Splenomegal... |
ORPHA:549 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Decreased activity of mitochondrial complex IV, Ragged-red muscle fibers, Fatigue, Decreased acti... |
OMIM:616794 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Type I diabetes mellitus, Hepatitis, Failure to thrive in infancy, Pancytopenia, Hypersplenism, P... |
OMIM:613385 |
| Marburg Hemorrhagic Fever |
|
Diarrhea, Vomiting, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Fever,... |
ORPHA:99826 |
| Immunodeficiency 54 |
|
Reduced natural killer cell count, Failure to thrive, Adrenal insufficiency, Splenomegaly, Adreno... |
OMIM:609981 |
| Stuve-Wiedemann Syndrome 2 |
|
Camptodactyly, Thrombocytopenia |
OMIM:619751 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Aminoaciduria, Ataxia, Periportal fibrosis, Elevated circulating hepatic transaminase concentrati... |
OMIM:124000 |
| Thrombocytopenia 9 |
|
Abnormal platelet aggregation, Thrombocytopenia, Decreased circulating thrombopoietin concentration |
OMIM:620478 |
| Sitosterolemia 1 |
|
Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Xanthelasma, Reticulocytosis, Splen... |
OMIM:210250 |
| Hemochromatosis, Type 2B |
|
Hepatic fibrosis, Increased circulating iron concentration, Elevated circulating hepatic transami... |
OMIM:613313 |
| Immunodeficiency 84 |
|
B-cell lymphoma, Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro... |
OMIM:616005 |
| Omenn Syndrome |
|
Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Ly... |
OMIM:603554 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hyperammonemia, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia |
ORPHA:289916 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Temperature instability, Diarrhea, Gastroesophageal reflux, Intermittent hypothermia, Lethargy, T... |
OMIM:608643 |
| Trisomy X |
|
Precocious puberty, Premature ovarian insufficiency, Secondary amenorrhea |
ORPHA:3375 |
| Follicular Lymphoma |
|
Lymphoma, Splenomegaly, Night sweats, Fatigue, Weight loss, Lymphadenopathy, Abnormal peritoneum ... |
ORPHA:545 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... |
OMIM:611705 |
| Smith-Magenis Syndrome |
|
Abnormality of the urinary system, Head-banging, Abnormality of the thyroid gland, Onychotilloman... |
OMIM:182290 |
| 46,Xy Complete Gonadal Dysgenesis |
|
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
| Cole Disease |
|
Hyperglycemia |
OMIM:615522 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated circulating long chain fatty acid concentration, Hyperbilirubinemia, Prominence of the p... |
OMIM:614886 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28 |
|
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... |
OMIM:620375 |
| Tangier Disease |
|
Hypocholesterolemia, Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Facial diplegia, ... |
ORPHA:31150 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Leukopenia, Hyperammonemia, Macrocytic anemia, Hepatomegaly, Pancreatitis, Thrombocytopenia, Anemia |
ORPHA:27 |
| Myopathy, Distal, 1 |
|
Rimmed vacuoles, Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Myalgia, Type 1 muscl... |
OMIM:160500 |
| Bardet-Biedl Syndrome 6 |
|
External genital hypoplasia, Obesity, Vaginal atresia, Hypospadias, Diabetes mellitus |
OMIM:605231 |
| Diffuse Alveolar Hemorrhage |
|
Elevated circulating creatinine concentration, Chest pain, Leukocytosis, Weight loss, Thrombocyto... |
ORPHA:90060 |
| Cholesteryl Ester Storage Disease |
|
Hepatic failure, Adrenal calcification, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertrigl... |
ORPHA:75234 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Uterus didelphys, Septate vagina, Aplasia of the vagina, Aplasia of the uterus, Primary amenorrhe... |
OMIM:146255 |
| Craniofrontonasal Dysplasia |
|
Ridged fingernail, Low posterior hairline, Shawl scrotum, Abnormality of hair texture, Woolly hai... |
ORPHA:1520 |
| Odontomicronychial Dysplasia |
|
Abnormality of the dentition, Premature eruption of permanent teeth, Carious teeth, Premature los... |
ORPHA:1811 |
| Fanconi Anemia, Complementation Group T |
|
Bone marrow hypocellularity, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia, Faci... |
OMIM:616435 |
| Bone Marrow Failure Syndrome 3 |
|
Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Failure to thriv... |
OMIM:617052 |
| Methylmalonic Aciduria, Cblb Type |
|
Failure to thrive, Hypoglycemia, Elevated circulating propionylcarnitine concentration, Pancytope... |
OMIM:251110 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Splenomegaly, Hodgkin lymphoma, Decreased proportion of class-switched memory B cells, Coombs-pos... |
OMIM:619375 |
| Congenital Enterovirus Infection |
|
Hepatic failure, Fever, Hepatitis, Cholestasis, Hypothermia |
ORPHA:292 |
| Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Skeletal muscle atrophy, Generalized lipodystrophy, Splenomegaly, Autoimmune hemolytic anemia, My... |
OMIM:619183 |
| Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Uveitis, Abnormality of tumor necrosis factor secretion, Sacroiliac arthritis, Psoriasiform derma... |
ORPHA:85436 |
| Low Phospholipid-Associated Cholelithiasis |
|
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... |
ORPHA:69663 |
| Pelizaeus-Merzbacher Disease |
|
Failure to thrive in infancy, Cachexia, Short stature |
ORPHA:702 |
| Aicardi-Goutieres Syndrome 5 |
|
Flexion contracture, Thrombocytopenia |
OMIM:612952 |
| Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Micrognathia, Carious teeth, Hypoplasia of the zygomatic bone, Supernumerary tooth |
ORPHA:3145 |
| Rh-Null, Amorph Type |
|
Hyperbilirubinemia |
OMIM:617970 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Temperature instability, Xerostomia, Absence of pubertal development, Type II diabetes mellitus, ... |
ORPHA:398069 |
| Atelis Syndrome 1 |
|
Decreased lymphocyte proliferation in response to anti-CD3, Leukopenia, Hypothyroidism, Thrombocy... |
OMIM:620184 |
| Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia |
OMIM:605479 |
| Rh-Null, Regulator Type |
|
Unconjugated hyperbilirubinemia |
OMIM:268150 |
| Oligoarticular Juvenile Idiopathic Arthritis |
|
Abnormal circulating interleukin concentration, Rheumatoid arthritis, Increased circulating inter... |
ORPHA:85410 |
| Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Defective B cell differentiation, Failure to thrive, Lymphoma, L... |
OMIM:208900 |
| Adult-Onset Still Disease |
|
Arthralgia, Weight loss, Neutrophilia, Hepatomegaly, Elevated circulating C-reactive protein conc... |
ORPHA:829 |
| Steinert Myotonic Dystrophy |
|
Neoplasm of the skin, Diarrhea, Oral-pharyngeal dysphagia, Hyperinsulinemia, Obsessive-compulsive... |
ORPHA:273 |
| Progeroid Syndrome, Petty Type |
|
Failure to thrive, Abnormal hair morphology, Intrauterine growth retardation, Thick eyebrow, Long... |
ORPHA:2963 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hyperbilirubinemia |
OMIM:301083 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Decreased circulating IgG level, Type I diabetes mellitus, Lymphoma, Decreased circulating IgA le... |
ORPHA:436159 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Fine hair, Intrauterine growth retardation, Decreased body weight, Low anterior hairline, Proport... |
ORPHA:391408 |
| Hyperparathyroidism, Neonatal Severe |
|
Aminoaciduria, Polydipsia, Elevated circulating parathyroid hormone level, Failure to thrive, Hyp... |
OMIM:239200 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De... |
OMIM:202010 |
| Fumarase Deficiency |
|
Intrahepatic cholestasis, Hepatic failure, Cutaneous leiomyoma, Polycythemia, Mitochondrial swell... |
OMIM:606812 |
| Premature Ovarian Failure 9 |
|
Elevated circulating luteinizing hormone level, Amenorrhea, Hypoplasia of the ovary, Elevated cir... |
OMIM:615724 |
| Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Alopecia, Failure to thrive, Intrauterine growth retardation, Brittle hair, Short stature |
ORPHA:50812 |
| Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Megaloblastic anemia, Neutropenia, Thrombocytopenia, Diabetes insipidus, Di... |
OMIM:598500 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Bone marrow hypocellularity, Failure to thrive, Umbilical hernia, Large for gestational age, Thro... |
OMIM:614520 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Abnormally low T cell receptor excision circle level, Failure to thrive, Panhypogammaglobulinemia... |
OMIM:602450 |
| Polymyositis |
|
Chondrocalcinosis, Myalgia, Elevated circulating creatine kinase concentration, Arthralgia, Fatig... |
ORPHA:732 |
| Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Ty... |
OMIM:616313 |
| Bone Marrow Failure Syndrome 2 |
|
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia |
OMIM:615715 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Neonatal cholestatic ... |
ORPHA:79301 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Neoplasm, Splenomegaly, Myopathy, Amelogenesis imperfecta, Lymphadenopathy, Thrombocytopenia, Hyp... |
ORPHA:169090 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B lymphocytopenia, I... |
OMIM:150550 |
| Hemochromatosis, Type 1 |
|
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... |
OMIM:235200 |
| Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Woolly hair, Sparse hair |
OMIM:278200 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypoalbuminemia, Hypermethioninemia, Hypoglycemia, Hyperbilirubinemia, Hypertyrosinemia, Conjugat... |
OMIM:617156 |
| Neuroleptic Malignant Syndrome |
|
Acute kidney injury, Vomiting, Elevated circulating hepatic transaminase concentration, Fever, Hy... |
ORPHA:94093 |
| Vipoma |
|
Follicular thyroid carcinoma, Increased circulating cortisol level, Increased circulating prolact... |
ORPHA:97282 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Hyperbilirubinemia, Conjugated hyperbilirubinemia, Abnormal serum bile acid concentration |
ORPHA:79303 |
| Myasthenic Syndrome, Congenital, 14 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... |
OMIM:616228 |
| Unclassified Myelodysplastic Syndrome |
|
Bone marrow hypocellularity, Myelodysplasia, Leukocytosis, Night sweats, Acute myeloid leukemia, ... |
ORPHA:98827 |
| Familial Cold Autoinflammatory Syndrome 2 |
|
Lower limb pain, Leukocytosis, Splenomegaly, Myalgia, Arthralgia, Lymphadenopathy, Elevated circu... |
OMIM:611762 |
| Glucocorticoid Resistance, Generalized |
|
Irregular menstruation, Increased circulating cortisol level, Increased circulating ACTH level, I... |
OMIM:615962 |
| 3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Abnormal cortical gyration, Failure to thrive, Hypogonadism, Intrauterine growth retardation, Abn... |
ORPHA:79351 |
| Weaver Syndrome |
|
Fine hair, Abnormal fingernail morphology, Cryptorchidism, Hypoplastic toenails, Thin nail, Deep-... |
ORPHA:3447 |
| Congenital Myopathy 1B, Autosomal Recessive |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... |
OMIM:255320 |
| Pituitary Gigantism |
|
Increased circulating prolactin concentration, Pituitary prolactin cell adenoma, Pituitary growth... |
ORPHA:99725 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Exercise intolerance, Hypochromic anemia, Failure to thrive, Increased circulating ferritin conce... |
OMIM:600462 |
| Dominant Beta-Thalassemia |
|
Hypoplasia of the musculature, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of... |
ORPHA:231226 |
| Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia |
OMIM:604498 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... |
ORPHA:2138 |
| Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:619733 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Failure to thrive, Splenomegaly, Macrocytic anemia, Hyperprolinemia, Increased serum pyruvate, Hy... |
OMIM:619046 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Bone marrow hypocellularity, Lymphopenia, Leukopenia, Myelodysplasia, Reticulocytopenia, B lympho... |
ORPHA:508542 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Neonatal hyperbilirubinemia, Hypoglycemia, Hyperuricemia, Hyperalaninemia, Fasting hypoglycemia, ... |
ORPHA:348 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Insulin resistance, Generalized lipodystrophy, Delayed puberty, Hyperlipidemia |
ORPHA:90154 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Acute kidney injury, Anuria, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Hemolytic-ur... |
OMIM:612925 |
| Immunodeficiency 40 |
|
Eosinophilic granuloma, Elevated circulating aspartate aminotransferase concentration, Reduced an... |
OMIM:616433 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Elevated circulating hepatic transaminase concentration, Leukopenia, Elevated circulating creatin... |
OMIM:301056 |
| Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Muscular dystrophy, E... |
OMIM:613530 |
| Uncombable Hair Syndrome 3 |
|
Pili canaliculi, Brittle hair, Uncombable hair, Curly hair |
OMIM:617252 |
| Thyrotoxic Periodic Paralysis |
|
Postprandial hyperglycemia, Graves disease, Urinary retention, Obesity, Decreased urinary potassi... |
ORPHA:79102 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Narrow palate, Hypoglycemia, Increased total bilirubin, Elevated circulating creatinine concentra... |
OMIM:608836 |
| Finnish Upper Limb-Onset Distal Myopathy |
|
Rimmed vacuoles, Joint contracture of the hand, EMG: myopathic abnormalities, Intrinsic hand musc... |
ORPHA:399086 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Chronic kidney disease, Hepatic fibrosis, Hepatic failure, Nephronophthisis, Cholestasis, Obesity... |
OMIM:615630 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Decreased serum estradiol, Broad-based gait, Gastroesophageal reflux, Elevated circulating hepati... |
ORPHA:2959 |
| Myopathy, Centronuclear, 1 |
|
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Skeletal mus... |
OMIM:160150 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Hypouricemia, Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Impai... |
OMIM:613179 |
| Hypotrichosis 12 |
|
Abnormal sweat gland morphology, Sparse pubic hair, Dry hair, Sparse or absent eyelashes, Sparse ... |
OMIM:615885 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Fever... |
ORPHA:567548 |
| Tsh-Secreting Pituitary Adenoma |
|
Increased circulating prolactin concentration, Central adrenal insufficiency, Weight loss, Decrea... |
ORPHA:91347 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Cachexia |
ORPHA:2774 |
| Scorpion Envenomation |
|
Acute kidney injury, Diarrhea, Ketonuria, Glycosuria, Vomiting, Fever, Hyperglycemia, Elevated ci... |
ORPHA:466677 |
| Pfapa Syndrome |
|
Splenomegaly, Arthralgia, Fatigue, Lymphadenopathy, Weight loss, Hepatomegaly, Abdominal pain |
ORPHA:42642 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Hyperbilirubinemia, Decreased serum bile acid concentration |
OMIM:214950 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Leukopenia, Hepatic steatosis, Thrombocytopenia, Neutropenia, Flexion contracture, Neonatal hypog... |
OMIM:616271 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre... |
OMIM:618484 |
| Spherocytosis, Type 1 |
|
Hyperbilirubinemia |
OMIM:182900 |
| Shwachman-Diamond Syndrome 1 |
|
Myocardial necrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, ... |
OMIM:260400 |
| Lysinuric Protein Intolerance |
|
Hemophagocytosis, Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperglycinemia, I... |
ORPHA:470 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Thrombocy... |
OMIM:155100 |
| Bangstad Syndrome |
|
Insulin-resistant diabetes mellitus, Goiter, Primary gonadal insufficiency, Small for gestational... |
OMIM:210740 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Rimmed vacuoles, Shoulder girdle muscle atrophy, Pelvic girdle muscle atrophy, Distal amyotrophy,... |
OMIM:167320 |
| Hurler-Scheie Syndrome |
|
Hernia, Hepatomegaly, Abnormality of the tonsils, Splenomegaly |
ORPHA:93476 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Hypogonadism, Obesity, Abnormality of the thyroid gland, Type II diabetes mellitus, Eunuchoid hab... |
ORPHA:2234 |
| Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:165550 |
| Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy |
ORPHA:158029 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Increased circulating ... |
ORPHA:158048 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis, L... |
OMIM:619281 |
| Lathosterolosis |
|
Elevated circulating lathosterol concentration, Long philtrum, Thick upper lip vermilion, Hyperbi... |
OMIM:607330 |
| Glycogen Storage Disease Ixc |
|
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Increased he... |
OMIM:613027 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Centrally nucleated skeletal muscle fibers, Ankle flexion contracture, Increased variability in m... |
OMIM:617760 |
| Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Fine hair, Failure to thrive in infancy, Intrauterine growth retardation, Type II diabetes mellit... |
OMIM:618891 |
| Tonne-Kalscheuer Syndrome |
|
Growth delay, Small nail, Fine hair, Decreased testicular size, Cryptorchidism, Short stature, Co... |
OMIM:300978 |
| Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Hemophagocytosis, Hepatosplenomegaly, Panniculitis, Fatigue, Weight loss, Chills |
ORPHA:86884 |
| Hyperlipoproteinemia, Type V |
|
Increased circulating chylomicron concentration, Increased VLDL cholesterol concentration, Decrea... |
OMIM:144650 |
| Spherocytosis, Type 2 |
|
Hyperbilirubinemia |
OMIM:616649 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:619685 |
| Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... |
OMIM:263300 |
| Beta-Thalassemia Major |
|
Hypoplasia of the musculature, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of... |
ORPHA:231214 |
| Elliptocytosis 2 |
|
Neonatal hyperbilirubinemia |
OMIM:130600 |
| Omenn Syndrome |
|
Failure to thrive, Lymphoma, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatome... |
ORPHA:39041 |
| Acute Promyelocytic Leukemia |
|
Pancytopenia, Leukopenia, Leukocytosis, Gangrene, Fatigue, Weight loss, Lymphadenopathy, Neutrope... |
ORPHA:520 |
| Rett Syndrome |
|
Failure to thrive, Difficulty walking, Inability to walk, Bruxism, Increased serum leptin, Cholec... |
ORPHA:778 |
| Atypical Hemolytic Uremic Syndrome |
|
Thrombocytopenia, Microangiopathic hemolytic anemia |
ORPHA:2134 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hepatomegaly, Hypocholesterolemia |
OMIM:618810 |
| Ankyloglossia With Or Without Tooth Anomalies |
|
Ankyloglossia, Supernumerary tooth |
OMIM:106280 |
| Congenital Myopathy 20 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... |
OMIM:620310 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Hyperbilirubinemia |
OMIM:235555 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Absence of pubertal development, Obesity, Hypogonadotropic hypogonadism, Micropenis, Diabetes mel... |
OMIM:610628 |
| Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620534 |
| Menkes Disease |
|
Hypothermia |
OMIM:309400 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Type I diabetes mellitus, Central hypothyroidism, Decreased testicular size, Postnatal growth ret... |
OMIM:616113 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Tiger tail banding, Slow-growing hair, Brittle hair, Short stature, Mild intrauterine growth reta... |
OMIM:616943 |
| Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Sparse eyebrow, Fine hair, Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse hair |
OMIM:129490 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Megaloblastic anemia, Thrombocytopenia, Diabetes mellitus |
ORPHA:49827 |
| Hypotrichosis 8 |
|
Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ... |
OMIM:278150 |
| Interstitial Cystitis |
|
Elevated circulating C-reactive protein concentration, Urinary bladder inflammation, Abnormality ... |
ORPHA:37202 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Adrenal cortical sclerosis, Failure to thrive, Increased circulating IgE level, Lymphopenia, Decr... |
OMIM:102700 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Glycosuria, Pancreatic hypoplasia, Failure to thrive, Umbilical hernia, Hyperglycemia, Absent gal... |
OMIM:600001 |
| Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Gastroesophageal reflux, Increased body weight, Attention deficit hyperactivity disorder, Gait di... |
ORPHA:589905 |
| Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Centrally nucleated skeletal muscle fibers, Ankle flexion contracture, Increased variability in m... |
OMIM:117000 |
| Occipital Horn Syndrome |
|
Atypical scarring of skin, Gastroesophageal reflux, Keloids, Hepatitis, Recurrent urinary tract i... |
ORPHA:198 |
| Amyotrophic Lateral Sclerosis 28 |
|
Rimmed vacuoles, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness,... |
OMIM:620452 |
| Dend Syndrome |
|
Hyperglycemia, Vomiting |
ORPHA:79134 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Partial development of the penile shaft, Gastroesophageal reflux, Hypothermia |
OMIM:608800 |
| Schaaf-Yang Syndrome |
|
Gastroesophageal reflux, Inability to walk, Hypogonadism, Failure to thrive in infancy, Obesity, ... |
OMIM:615547 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Increased circulating IgE level, Asthenia, Hypereosinophilia, Leukocytosis, Night sweats, Arthral... |
ORPHA:2902 |
| Carvajal Syndrome |
|
Woolly hair |
ORPHA:65282 |
| Thrombotic Thrombocytopenic Purpura |
|
Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Decreased serum creatinine,... |
ORPHA:54057 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Rimmed vacuoles, Precordial pain, Abnormality of the shoulder girdle musculature, Hyperlipidemia,... |
ORPHA:565612 |
| Good Syndrome |
|
Thymoma, Aplasia/Hypoplasia of the thymus, Abnormal leukocyte morphology, Thrombocytopenia, Anemi... |
ORPHA:169105 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Exercise intolerance, H... |
OMIM:611126 |
| Farber Disease |
|
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Skele... |
ORPHA:333 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Precocious puberty, Neoplasm of the scrotum, Uterine neoplasm, Metrorrhagia, Weight loss, Ovarian... |
ORPHA:370348 |
| Precocious Puberty, Central, 1 |
|
Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti... |
OMIM:176400 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Aminoaciduria, Nephrocalcinosis, Elevated circulating hepatic transaminase concentration, Glycosu... |
OMIM:616026 |
| Myopathy, Scapulohumeroperoneal |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... |
OMIM:616852 |
| Ectodermal Dysplasia 7, Hair/Nail Type |
|
Abnormal sweat gland morphology, Alopecia, Sparse eyebrow, Dystrophic toenail, Sparse eyelashes, ... |
OMIM:614929 |
| Bardet-Biedl Syndrome |
|
Chronic kidney disease, Inflammation of the large intestine, Type II diabetes mellitus, Hepatic s... |
ORPHA:110 |
| Pediatric-Onset Graves Disease |
|
Elevated circulating hepatic transaminase concentration, Graves disease, Failure to thrive, Goite... |
ORPHA:525731 |
| Tafro Syndrome |
|
Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocy... |
ORPHA:457077 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Ankle flexion contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, ... |
ORPHA:1145 |
| Neonatal Lupus Erythematosus |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Aplastic anemia, Pancyt... |
ORPHA:398124 |
| Inclusion Body Myositis |
|
Rimmed vacuoles, Inflammatory myopathy |
OMIM:147421 |
| Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... |
OMIM:609560 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Decreased liver... |
OMIM:617021 |
| Fetal Parvovirus Syndrome |
|
Anemia, Ascites, Thrombocytopenia |
ORPHA:295 |
| Tbck-Related Intellectual Disability Syndrome |
|
Inability to walk, Decreased response to growth hormone stimulation test, Central adrenal insuffi... |
ORPHA:488632 |
| Combined Oxidative Phosphorylation Deficiency 18 |
|
Skeletal muscle atrophy, Hypersegmentation of neutrophil nuclei, Increased mitochondrial number, ... |
OMIM:615578 |
| Glycogen Storage Disease Vii |
|
Increased total bilirubin, Hyperuricemia, Elevated circulating creatine kinase concentration |
OMIM:232800 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Pituitary adenoma, Abnormal fear-induced behavior, Increased circulating ACTH level, Obesity, Glu... |
OMIM:219090 |
| Naxos Disease |
|
Abnormality of hair texture, Woolly hair, Sparse scalp hair, Curly hair |
ORPHA:34217 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Type I diabetes mellitus, Lymphopenia, Squamous cell carcinoma of the skin, Portal hypertension, ... |
OMIM:620365 |
| Lig4 Syndrome |
|
Failure to thrive, Pancytopenia, Myelodysplasia, Type II diabetes mellitus, Hypothyroidism, Throm... |
OMIM:606593 |
| Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... |
OMIM:619178 |
| Fetal Cytomegalovirus Syndrome |
|
Retinal hemorrhage, Optic atrophy, Conjugated hyperbilirubinemia |
ORPHA:294 |
| Renal Hypodysplasia/Aplasia 1 |
|
Vaginal atresia, Bicornuate uterus, Primary amenorrhea |
OMIM:191830 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Exercise intolerance, Skeletal muscle atrophy, Obesity, Myalgia, Decreased activity of mitochondr... |
OMIM:615418 |
| Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Fine hair, Abnormal hair morphology, Abnormal fingernail morphology, Abnormal toenail m... |
ORPHA:248 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome |
OMIM:612926 |
| Somatostatinoma |
|
Increased circulating cortisol level, Increased circulating prolactin concentration, Weight loss,... |
ORPHA:97283 |
| Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Conjugated hyperbilirubinemia |
OMIM:619484 |
| Bleeding Disorder, Platelet-Type, 22 |
|
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... |
OMIM:618462 |
| Caroli Syndrome |
|
Hypersplenism, Hyperbilirubinemia, Congenital hepatic fibrosis, Cirrhosis, Abnormal ductus choled... |
ORPHA:480520 |
| Immunodeficiency 87 And Autoimmunity |
|
Cholestasis, Lymphopenia, Decreased CD4:CD8 ratio, Hepatic steatosis, Hodgkin lymphoma, Elevated ... |
OMIM:619573 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... |
ORPHA:486815 |
| Witkop Syndrome |
|
Abnormal sweat gland morphology, Fine hair, Ridged nail, Concave nail, Hypoplastic fifth toenail,... |
OMIM:189500 |
| Cinca Syndrome |
|
Abnormality of thrombocytes, Myalgia, Leukocytosis, Splenomegaly, Hepatomegaly, Arthralgia, Fatig... |
ORPHA:1451 |
| Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
ORPHA:234 |
| Chromosome Xp11.23-P11.22 Duplication Syndrome |
|
Precocious puberty, Thick eyebrow, Low posterior hairline, Medial flaring of the eyebrow, Synophrys |
OMIM:300801 |
| Cutis Laxa, Autosomal Recessive, Type Iia |
|
Coarse hair, Failure to thrive, Polymicrogyria, Pachygyria, Intrauterine growth retardation, Brit... |
OMIM:219200 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Interface hepatitis, Agammaglobulinemia, ... |
OMIM:243150 |
| Pearson Syndrome |
|
Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Hepatomegaly, Hypoparathyroidism,... |
ORPHA:699 |
| Hypotrichosis With Juvenile Macular Degeneration |
|
Fine hair, Pili torti, Brittle hair, Short stature, Sparse scalp hair |
ORPHA:1573 |
| Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
|
Postnatal growth retardation, Sparse scalp hair, Fine hair |
ORPHA:2324 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10 |
|
Increased endomysial connective tissue, Increased variability in muscle fiber diameter, Skeletal ... |
OMIM:620542 |
| Ebola Hemorrhagic Fever |
|
Hepatitis, Recurrent singultus, Lymphopenia, Leukopenia, Chest pain, Increased circulating antibo... |
ORPHA:319218 |
| Trisomy 18 |
|
Abnormal morphology of female internal genitalia, Intrauterine growth retardation, Cryptorchidism... |
ORPHA:3380 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome |
OMIM:612924 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circulating gamma-aminobutyric acid concent... |
OMIM:619658 |
| Galactose Epimerase Deficiency |
|
Weight loss, Growth delay |
ORPHA:79238 |
| Nephronophthisis 3 |
|
Hepatic fibrosis, Nephronophthisis, Polydipsia, Failure to thrive, Stage 5 chronic kidney disease... |
OMIM:604387 |
| Acquired Purpura Fulminans |
|
Hepatic failure, Neoplasm, Gangrene, Thrombocytopenia, Elevated circulating C-reactive protein co... |
ORPHA:49566 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Increased total bilirubin |
ORPHA:90037 |
| Brucellosis |
|
Hypersplenism, Arthralgia, Weight loss, Hepatomegaly, Abdominal pain, Elevated circulating C-reac... |
ORPHA:1304 |
| Prader-Willi Syndrome |
|
Small scrotum, Hyperinsulinemia, Type II diabetes mellitus, Cryptorchidism, Frontal upsweep of ha... |
OMIM:176270 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Failure to thrive, Laryngeal papilloma, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic ane... |
OMIM:617388 |
| X-Linked Creatine Transporter Deficiency |
|
Short stature, Cachexia |
ORPHA:52503 |
| Griscelli Syndrome Type 2 |
|
Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepat... |
ORPHA:79477 |
| Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Alopecia, Coarse hair, Small nail, Hypoplastic toenails, Sparse eyelashes, Patchy alopecia, Pili ... |
OMIM:613573 |
| Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
| Hair Defect With Photosensitivity And Impaired Intellectual Development |
|
Sparse eyebrow, Coarse hair, Sparse eyelashes, Brittle hair, Sparse hair |
OMIM:234030 |
| Nodular Non-Suppurative Panniculitis |
|
Myalgia, Splenomegaly, Arthralgia, Weight loss, Hepatomegaly, Abdominal pain, Panniculitis |
ORPHA:33577 |
| Niemann-Pick Disease, Type A |
|
Skeletal muscle atrophy, Failure to thrive, Sea-blue histiocytosis, Microcytic anemia, Elevated c... |
OMIM:257200 |
| 2Q32Q33 Microdeletion Syndrome |
|
Fine hair, Decreased testicular size, Short stature, Sparse hair, Growth delay |
ORPHA:251019 |
| Q Fever |
|
Elevated circulating hepatic transaminase concentration, Granuloma, Hepatitis, Hepatosplenomegaly... |
ORPHA:781 |
| Oculopalatocerebral Syndrome |
|
Cleft palate, Remnants of the hyaloid vascular system |
OMIM:257910 |
| Wilson Disease |
|
Hypouricemia, Acute hepatic failure, Hyperbilirubinemia, Limb muscle weakness, Hepatic steatosis,... |
OMIM:277900 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Limb-girdle muscular dystrophy, Elevated circulating hepatic transaminase concentration, Muscular... |
ORPHA:369840 |
| Congenital Myopathy 6 With Ophthalmoplegia |
|
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Congenital contrac... |
OMIM:605637 |
| Marbach-Rustad Progeroid Syndrome |
|
Insulin resistance, Reduced subcutaneous adipose tissue |
OMIM:619322 |
| Attrv30M Amyloidosis |
|
Weight loss, Impotence |
ORPHA:85447 |
| Muckle-Wells Syndrome |
|
Camptodactyly of finger, Myalgia, Splenomegaly, Hernia of the abdominal wall, Hepatomegaly, Arthr... |
ORPHA:575 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Splenomegaly, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Anemia, Facial palsy |
OMIM:611490 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Calf ... |
OMIM:254110 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Facial paralysis, Failure to thrive, Pancytopenia, Splenomegaly, Hypocalcemia, Hepatomegaly, Thro... |
OMIM:259700 |
| Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy |
|
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Elevated circulating cre... |
OMIM:151800 |
| Bacterial Toxic-Shock Syndrome |
|
Cellulitis, Hypoalbuminemia, Hepatitis, Fasciitis, Elevated circulating creatinine concentration,... |
ORPHA:36234 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Exercise intolerance, Left ventricular noncompaction, Ragged-red muscle fibers, Increased intramy... |
OMIM:252011 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Congenital hypothyroidism, Obesity, Hyperactivity, Hypospadias, Diabetes mellitus |
OMIM:614613 |
| Pearson Marrow-Pancreas Syndrome |
|
Type I diabetes mellitus, Hepatic failure, Elevated circulating hepatic transaminase concentratio... |
OMIM:557000 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Cholelithiasis, Small for gestational age, Hypothermia |
OMIM:618775 |
| Noonan Syndrome 5 |
|
Sparse eyebrow, Small nail, Fine hair, Large for gestational age, Cryptorchidism, Curly hair, Sho... |
OMIM:611553 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Hypocalciuria, Enuresis, Polydipsia, Hyperaldosteronism, Renal sodium wasting, Salt craving, Poly... |
OMIM:612780 |
| Oculopharyngodistal Myopathy 2 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Increased endomysial connective ... |
OMIM:618940 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... |
OMIM:615424 |
| Late-Onset Isolated Acth Deficiency |
|
Arthralgia, Weight loss, Hypoparathyroidism, Abdominal pain, Pituitary adenoma, Graves disease, D... |
ORPHA:199299 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Hyperbilirubinemia |
ORPHA:713 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Cholelithiasis, Hepatic failure, Decreased liver function, Abnormal circulating lipid concentrati... |
ORPHA:77293 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Hyperbilirubinemia |
OMIM:235700 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu... |
ORPHA:399058 |
| Myopathy, Distal, 3 |
|
Rimmed vacuoles, Joint contracture of the hand, Distal amyotrophy, Muscular dystrophy, EMG: myopa... |
OMIM:610099 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Decreased circulat... |
OMIM:616100 |
| Aicardi-Goutieres Syndrome 1 |
|
Elevated circulating hepatic transaminase concentration, Splenomegaly, Multiple gastric polyps, H... |
OMIM:225750 |
| Platelet Signal Processing Defect |
|
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... |
OMIM:173590 |
| Central Core Disease |
|
Nemaline bodies, Abnormal circulating creatine kinase concentration, Type 1 muscle fiber predomin... |
ORPHA:597 |
| Intestinal Dysmotility Syndrome |
|
Weight loss, Failure to thrive |
OMIM:620045 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... |
OMIM:314050 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Obesity, Type II diabetes mellitus, Inguinal hernia, Biliary tract abnormality |
ORPHA:3191 |
| Fowler Urethral Sphincter Dysfunction Syndrome |
|
Abnormality of the ovary, Polycystic ovaries, Hirsutism, Amenorrhea, Oligomenorrhea, Menorrhagia |
ORPHA:2795 |
| Oculopharyngeal Muscular Dystrophy |
|
Rimmed vacuoles, Ragged-red muscle fibers, Myopathy, Elevated circulating creatine kinase concent... |
ORPHA:270 |
| Nephrotic Syndrome, Type 7 |
|
Hypoalbuminemia, Hemolytic anemia, Thrombocytopenia |
OMIM:615008 |
| Schimke Immunoosseous Dysplasia |
|
Elevated circulating thyroid-stimulating hormone concentration, Lymphopenia, Pancytopenia, Abnorm... |
OMIM:242900 |
| Liver Failure, Infantile, Transient |
|
Hypoalbuminemia, Hyperbilirubinemia |
OMIM:613070 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hypoalbuminemia, Bone marrow hypocellularity, Decreased circulating IgG level, Hepatosplenomegaly... |
ORPHA:505248 |
| Cryptogenic Organizing Pneumonia |
|
Chest pain, Leukocytosis, Cyanosis, Night sweats, Arthralgia, Fatigue, Weight loss, Neutrophilia,... |
ORPHA:1302 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Enamel hypomineralization, Iron deficiency anemia, Neutropenia, Thrombocytopenia, Increased mean ... |
ORPHA:494444 |
| Immunodeficiency 31C |
|
Skeletal muscle atrophy, Decreased lymphocyte proliferation in response to anti-CD3, Lymphopenia,... |
OMIM:614162 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation |
OMIM:124900 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Abnormal hair morphology, Cryptorchidism, Uncombable hair, Slow-growing hair, Aplasia/Hypoplasia ... |
ORPHA:3082 |
| Denys-Drash Syndrome |
|
Ovarian gonadoblastoma, Uterus didelphys, Gonadal dysgenesis, Ambiguous genitalia, female, Septat... |
OMIM:194080 |
| Hypermanganesemia With Dystonia 1 |
|
Unconjugated hyperbilirubinemia, Hypermanganesemia, Increased total iron binding capacity |
OMIM:613280 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Decreased circulating IgG level, Hepatosplenomegaly, Decreased circulating antibody level, Comple... |
OMIM:301081 |
| Duplication Of Urethra |
|
Anuria, Recurrent urinary tract infections, Dysuria, Rectourethral fistula, Distal urethral dupli... |
ORPHA:237 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Thrombocytopenia, Diabetes mellitus, Thiamine-responsive megaloblastic anemia |
OMIM:249270 |
| Pili Torti-Onychodysplasia Syndrome |
|
Alopecia universalis, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dystrophy, Abs... |
ORPHA:2890 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Nemaline bodies, Sternocleido... |
ORPHA:98905 |
| Gaucher Disease |
|
Pancytopenia, Increased circulating antibody level, Cirrhosis, Polyclonal elevation of IgM, Arthr... |
ORPHA:355 |
| Hermansky-Pudlak Syndrome 2 |
|
Reduced natural killer cell count, Enlarged platelet dense granules, Reduced natural killer cell ... |
OMIM:608233 |
| Congenital Myopathy 8 |
|
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Type 1 muscle fiber predomi... |
OMIM:618654 |
| Myopathy With Lactic Acidosis, Hereditary |
|
Increased variability in muscle fiber diameter, Exercise intolerance, Skeletal muscle atrophy, Si... |
OMIM:255125 |
| Aicardi-Goutières Syndrome |
|
Neonatal alloimmune thrombocytopenia, Elevated circulating hepatic transaminase concentration, He... |
ORPHA:51 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Abnormality of thrombocytes, Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepato... |
OMIM:612840 |
| Marie Unna Hereditary Hypotrichosis |
|
Alopecia, Coarse hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse scal... |
ORPHA:444 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Cystathioninemia, Failure to thrive, Elevated circulating propionylcarnitine concentration, Pancy... |
OMIM:277380 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatic failure, Ascites, Hepatosplenomegaly, Splenomegaly, Decreased body weight, Cardiomegaly, ... |
OMIM:608013 |
| Bazex-Dupré-Christol Syndrome |
|
Sparse eyebrow, Coarse hair, Trichorrhexis nodosa, Sparse or absent eyelashes, Pili torti, Sparse... |
ORPHA:113 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, ... |
OMIM:612937 |
| Trichothiodystrophy 3, Photosensitive |
|
Failure to thrive, Bilateral cryptorchidism, Trichorrhexis nodosa, Tiger tail banding, Intrauteri... |
OMIM:616395 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Goiter, Decreased thyroid-stimulating hormone level, Weight loss, Increased circulating free T4 c... |
OMIM:613239 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Vomiting, Ketonuria, Failure to thrive, Hypoglycemia, Hyperglycemia, Inguinal hernia, Dysmetria, ... |
OMIM:220111 |
| Idiopathic Hypereosinophilic Syndrome |
|
Hepatosplenomegaly, Chronic hepatitis, Arthralgia, Neutrophilia, Abdominal pain, Myeloproliferati... |
ORPHA:3260 |
| Congenital Bile Acid Synthesis Defect Type 3 |
|
Hyperbilirubinemia |
ORPHA:79302 |
| Trichodental Dysplasia |
|
Sparse hair, Slow-growing hair, Fine hair, Brittle hair |
OMIM:601453 |
| Morgagni-Stewart-Morel Syndrome |
|
Obesity, Abnormality of the thyroid gland, Hypothyroidism, Hypercholesterolemia, Abnormality of t... |
ORPHA:77296 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Skeletal muscle atrophy, Hypoglycemia, Limb hypertonia, Thrombocytopenia, Generalized amyotrophy |
OMIM:617710 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Uterine neoplasm, Thyroid carcinoma, Hashimoto thyroiditis, Cachexia, Short stature, Neoplasm of ... |
ORPHA:109 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Type I diabetes mellitus, Alopecia, Failure to thrive in infancy, Nail dystrophy, Cachexia, Hypot... |
ORPHA:37042 |
| Hereditary Central Diabetes Insipidus |
|
Weight loss, Growth delay, Diabetes insipidus |
ORPHA:30925 |
| Chediak-Higashi Syndrome |
|
Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Foot dorsiflexor weakness,... |
OMIM:214500 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia, Myelodysplasia |
OMIM:252270 |
| Palmoplantar Keratoderma And Woolly Hair |
|
Sparse eyebrow, Sparse body hair, Leukonychia, Sparse eyelashes, Woolly hair, Sparse scalp hair |
OMIM:616099 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia |
OMIM:616738 |
| Hypothyroidism, Central, With Testicular Enlargement |
|
Hypothyroidism, Overweight, Reduced circulating prolactin concentration, Inappropriately normal t... |
OMIM:300888 |
| Noonan Syndrome 8 |
|
Failure to thrive, Large for gestational age, Cryptorchidism, Curly hair, Short stature |
OMIM:615355 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Cachexia |
ORPHA:93941 |
| Seckel Syndrome |
|
Short stature, Intrauterine growth retardation, Cachexia, Sparse scalp hair |
ORPHA:808 |
| Rapp-Hodgkin Syndrome |
|
Sparse hair, Sparse eyebrow, Decreased number of sweat glands, Fine hair, Supernumerary nipple, S... |
OMIM:129400 |
| Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating IgG level, Decreased proportion of memory B cells, Pancytopenia, Decreased ... |
OMIM:618394 |
| Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Multiple rows of eyelashes, Facial hirsutism, Rhizo-meso-acromelic limb shortening, Thick eyebrow... |
ORPHA:163654 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... |
OMIM:187800 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Acute kidney injury, Diarrhea, Vomiting, Anuria, Acute colitis, Peritonitis, Pancreatitis, Hemogl... |
ORPHA:90038 |
| Cystinosis, Nephropathic |
|
Hematuria, Weight loss, Hepatomegaly, Dysphagia, Aminoaciduria, Generalized aminoaciduria, Male h... |
OMIM:219800 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilir... |
OMIM:619662 |
| Congenital Myopathy 3 With Rigid Spine |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:602771 |
| Glycogen Storage Disease Ixd |
|
Exercise intolerance, Distal amyotrophy, Skeletal muscle atrophy, Quadriceps muscle weakness, Hyp... |
OMIM:300559 |
| Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Generalized weakness of limb muscles, Type 1 muscle fiber predominance, Ragged-red muscle fibers,... |
ORPHA:353327 |
| Fg Syndrome 3 |
|
Sparse hair, Frontal upsweep of hair, Cryptorchidism, Fine hair |
OMIM:300406 |
| Microsporidiosis |
|
Abnormality of the parathyroid gland, Abnormal endometrium morphology, Cachexia, Prostatitis, Wei... |
ORPHA:2552 |
| Rett Syndrome |
|
Short stature, Cachexia |
OMIM:312750 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Cholestatic liver disease, Failure to thrive, Polysplenia, Hypoglycemia, Exocri... |
OMIM:619418 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Macrothrombocytopenia, Thrombocytopenia |
OMIM:616176 |
| Congenital Myopathy 10B, Mild Variant |
|
Minicore myopathy, Increased variability in muscle fiber diameter, Rimmed vacuoles, Increased end... |
OMIM:620249 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Cellulitis, Decreased mean platelet volume, Failure to thrive, Cervical lymphadenopathy, Lymphocy... |
OMIM:617718 |
| Chédiak-Higashi Syndrome |
|
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Jaundice, Hypoproteinemia, Lymph... |
ORPHA:167 |
| Syndromic Diarrhea |
|
Hepatic fibrosis, Panhypogammaglobulinemia, Lymphopenia, Abnormality of the liver, Inguinal herni... |
ORPHA:84064 |
| Autoimmune Hepatitis |
|
Elevated circulating hepatic transaminase concentration, Viral hepatitis, Increased circulating I... |
ORPHA:2137 |
| Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Increased circulating very long-chain fatty acid concentration, Micrognathia, Conjugated hyperbil... |
OMIM:614887 |
| Sarcoidosis |
|
Nephrocalcinosis, Hepatic failure, Fever, Decreased liver function, Parotitis, Renal insufficienc... |
ORPHA:797 |
| Caroli Disease |
|
Cholestasis, Cirrhosis, Elevated circulating alanine aminotransferase concentration, Weight loss,... |
ORPHA:53035 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hypoalbuminemia, Hypoglycemia, Hyperammonemia, Decreased serum zinc, Conjugated hyperbilirubinemia |
OMIM:617093 |
| Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Autophagic vacuoles, Myopathy, Elevated circulating creatine kinase concentration |
OMIM:609500 |
| Fryns-Smeets-Thiry Syndrome |
|
Short stature, Cachexia |
ORPHA:2058 |
| Liver Disease, Severe Congenital |
|
Portal inflammation, Hyperbilirubinemia, Hepatic steatosis, Abnormal hepatic echogenicity, Hepato... |
OMIM:619991 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hepatic failure, Extramedullary hematopoiesis, Ascites, Hepatosplenomegaly, Pancytopenia, Leukocy... |
OMIM:259720 |
| Androgen Insensitivity, Partial |
|
Absent vas deferens, Bifid scrotum, Hypogonadism, Infertility, Azoospermia, Cryptorchidism, Male ... |
OMIM:312300 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Small cell lung carcinoma, Malignant gastrointestinal tract tumors, Increased circulating cortiso... |
ORPHA:99889 |
| Indolent Systemic Mastocytosis |
|
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega... |
ORPHA:98848 |
| Aregenerative Anemia |
|
Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A... |
ORPHA:101096 |
| Septopreoptic Holoprosencephaly |
|
Precocious puberty, Central diabetes insipidus, Anterior hypopituitarism, Perisylvian polymicrogyria |
ORPHA:280195 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Exercise intolerance, Decreased mitochondrial number, Ragged-red muscle fibers, Myopathy, Elevate... |
ORPHA:352447 |
| Senior-Loken Syndrome 4 |
|
Stage 5 chronic kidney disease, Nephronophthisis, Polydipsia, Polyuria |
OMIM:606996 |
| Bartter Syndrome, Type 1, Antenatal |
|
Renal juxtaglomerular cell hypertrophy/hyperplasia, Diarrhea, Renal salt wasting, Renal potassium... |
OMIM:601678 |
| Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Increased serum pyruvate, Ragged-red muscle fibers, Myopathy |
OMIM:545000 |
| Myopathy, Distal, Tateyama Type |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Hand ... |
OMIM:614321 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Goiter, Leukocytosis, Hyponatremia, Hashimoto thyroiditis, Hypothyroidism, Thrombocytopenia |
ORPHA:83601 |
| Down Syndrome |
|
Polycythemia, Umbilical hernia, Obesity, Type II diabetes mellitus, Acute megakaryocytic leukemia... |
ORPHA:870 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Conjugated hyperbilirubinemia, Glycosuria |
OMIM:613404 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... |
OMIM:603902 |
| Undifferentiated Pleomorphic Sarcoma |
|
Weight loss |
ORPHA:2023 |
| Dengue Fever |
|
Ascites, Leukopenia, Arthralgia, Thrombocytopenia, Hepatomegaly, Abdominal pain, Hypoproteinemia |
ORPHA:99828 |
| Hardikar Syndrome |
|
Portal inflammation, Cholestasis, Hypersplenism, Hepatosplenomegaly, Hyperbilirubinemia, Impaired... |
OMIM:301068 |
| Hereditary Mucoepithelial Dysplasia |
|
Alopecia, Sparse hair, Fine hair, Abnormal morphology of female internal genitalia |
ORPHA:1839 |
| Hypotrichosis 6 |
|
Sparse eyebrow, Sparse eyelashes, Pili torti, Brittle hair, Sparse hair |
OMIM:607903 |
| Noonan Syndrome 6 |
|
Cryptorchidism, Low posterior hairline, Curly hair, Short stature, Long eyebrows, Sparse hair, Gr... |
OMIM:613224 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Quadriceps muscle weakness, Shou... |
OMIM:603689 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... |
OMIM:615631 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Lymphopenia, Hemolytic anemia, Thrombocytopenia |
OMIM:616744 |
| Gaucher Disease, Type I |
|
Pancytopenia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Multiple myelo... |
OMIM:230800 |
| Thyrocerebrorenal Syndrome |
|
Abnormality of the musculature of the limbs, Euthyroid goiter, Thrombocytopenia |
ORPHA:3327 |
| Bartter Syndrome, Type 2, Antenatal |
|
Renal juxtaglomerular cell hypertrophy/hyperplasia, Diarrhea, Renal salt wasting, Renal potassium... |
OMIM:241200 |
| Malignant Migrating Focal Seizures Of Infancy |
|
Precocious puberty, Failure to thrive |
ORPHA:293181 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
| Muscular Dystrophy, Congenital, Lmna-Related |
|
Muscular dystrophy, Failure to thrive, Upper limb muscle weakness, Elbow contracture, Muscle fibe... |
OMIM:613205 |
| Idiopathic Neonatal Atrial Flutter |
|
Large for gestational age, Maternal diabetes |
ORPHA:45452 |
| Hereditary Folate Malabsorption |
|
Skeletal muscle atrophy, Failure to thrive, Pancytopenia, Eosinophilia, Megaloblastic anemia, Thr... |
ORPHA:90045 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Generalized amyotrophy, Abnormal mitochondrial morphology |
ORPHA:275872 |
| Neuroblastoma |
|
Elevated circulating catecholamine level, Increased circulating ferritin concentration, Neoplasm ... |
ORPHA:635 |
| Isovaleric Acidemia |
|
Bone marrow hypocellularity, Pancytopenia, Leukopenia, Thrombocytopenia |
OMIM:243500 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Sparse eyebrow, Sparse body hair, Curly eyelashes, Curly hair, Sparse eyelashes, Pili torti, Brit... |
OMIM:602400 |
| Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Increased endomysial connective tissue, Flexion contracture, Muscular dystrophy, Elevated circula... |
OMIM:607855 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Increased mean corpuscular volume, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Hepatome... |
OMIM:613839 |
| Fanconi Anemia, Complementation Group C |
|
Bone marrow hypocellularity, Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopen... |
OMIM:227645 |
| Bardet-Biedl Syndrome 17 |
|
Polydipsia, Hypogonadism, Obesity, Stage 5 chronic kidney disease, Renal cyst, Polyuria, Micropenis |
OMIM:615994 |
| Immunodeficiency 59 And Hypoglycemia |
|
Recurrent upper respiratory tract infections, Sepsis, Arteritis, Acne inversa, Herpes simplex enc... |
OMIM:233600 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Alopecia, Coarse hair, Intrauterine growth retardation, Nail dystrophy, Abnormality of the anteri... |
ORPHA:75389 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:617066 |
| Graft Versus Host Disease |
|
Trismus, Hyperbilirubinemia, Stomatitis, Oral ulcer |
ORPHA:39812 |
| Oculopharyngodistal Myopathy 3 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Increased end... |
OMIM:619473 |
| Tibial Muscular Dystrophy |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
ORPHA:609 |
| Immunodeficiency 7 |
|
Failure to thrive, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy,... |
OMIM:615387 |
| Rhabdomyolysis, Susceptibility To, 1 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Exerc... |
OMIM:620235 |
| Ullrich Congenital Muscular Dystrophy 1A |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Failure to thrive, Slender bu... |
OMIM:254090 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Increased variability in muscle fiber diameter, Calf muscle pseudohypertrophy, Muscular dystrophy... |
OMIM:253700 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Increased total bilirubin |
ORPHA:90036 |
| Primary Sclerosing Cholangitis |
|
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... |
ORPHA:171 |
| Kikuchi-Fujimoto Disease |
|
Elevated circulating hepatic transaminase concentration, Abnormal lymph node morphology, Cervical... |
ORPHA:50918 |
| Global Developmental Delay With Speech And Behavioral Abnormalities |
|
Precocious puberty, Cryptorchidism, Supernumerary nipple |
OMIM:619243 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Increased circulating IgA level, Thrombocytopenia |
OMIM:314000 |
| Polycythemia Vera |
|
Acute leukemia, Polycythemia, Erythromelalgia, Leukocytosis, Splenomegaly, Portal hypertension, P... |
ORPHA:729 |
| Castleman Disease |
|
Fatigue, Follicular hyperplasia, Abdominal mass, Flank pain, Generalized lymphadenopathy, Abdomin... |
ORPHA:160 |
| Combined Oxidative Phosphorylation Defect Type 27 |
|
Decreased activity of mitochondrial complex IV, Pain, Ragged-red muscle fibers, Decreased activit... |
ORPHA:477774 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hyperbilirubinemia |
OMIM:616689 |
| Common Variable Immunodeficiency |
|
Elevated circulating hepatic transaminase concentration, Lymphoma, Failure to thrive in infancy, ... |
ORPHA:1572 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Weakness of facial musculature, Elevated circu... |
OMIM:617069 |
| Spinal Muscular Atrophy, Type Iv |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... |
OMIM:271150 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Gastroesophageal reflux, Horseshoe kidney, Hyperglycemia, Decreased response to growth hormone st... |
ORPHA:444077 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... |
OMIM:619271 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Increased variability in muscle fiber diameter, Failure to thrive, Mitochondrial swelling, Elevat... |
OMIM:615595 |
| Myopathy, Myofibrillar, 2 |
|
Skeletal muscle autophagosome accumulation, Muscular dystrophy, Quadriceps muscle weakness, Lower... |
OMIM:608810 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myalg... |
OMIM:618129 |
| Dpm3-Cdg |
|
Rimmed vacuoles, Muscular dystrophy, Elevated circulating hepatic transaminase concentration, Che... |
ORPHA:263494 |
| Addison Disease |
|
Thymoma, Type I diabetes mellitus, Failure to thrive, Androgen insufficiency, Adrenal calcificati... |
ORPHA:85138 |
| Dystonia 28 |
|
Precocious puberty, Hypothyroidism, Short stature |
ORPHA:589618 |
| Schwartz-Jampel Syndrome |
|
Decreased testicular size, Abnormal eyebrow morphology, Long eyelashes in irregular rows, Decreas... |
ORPHA:800 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Precocious puberty, Broad-based gait, Gastroesophageal reflux, Increased circulating prolactin co... |
ORPHA:438213 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Lymphadenitis, Failure... |
OMIM:615895 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Generalized amyotrophy, Hepatic failure, Skeletal muscle atrophy, Micronodular cirrhosis, Ascites... |
OMIM:301072 |
| Myopathy, Sarcoplasmic Body |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:620286 |
| Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Abnormal dental enamel morphology, Cholestasis, Portal hypertension, Splenomegaly, Scarring alope... |
ORPHA:59303 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
ORPHA:86812 |
| Hypomagnesemia 3, Renal |
|
Chronic kidney disease, Hypomature enamel, Hematuria, Macroscopic hematuria, Polydipsia, Sterile ... |
OMIM:248250 |
| Fetal Hydantoin Syndrome |
|
Coarse hair, Bifid scrotum, Hypoplastic fingernail, Intrauterine growth retardation, Cryptorchidi... |
ORPHA:1912 |
| Tangier Disease |
|
Distal amyotrophy, Decreased HDL cholesterol concentration, Facial diplegia, Splenomegaly, Elevat... |
OMIM:205400 |
| 2P15P16.1 Microdeletion Syndrome |
|
Sparse eyebrow, Failure to thrive, Fine hair, Supernumerary nipple, Hypogonadism, Decreased testi... |
ORPHA:261349 |
| Tufted Angioma |
|
Neoplasm of the skin, Hemangioma of the lip, Pain, Facial hemangioma, Thrombocytopenia, Anemia |
ORPHA:1063 |
| Mogs-Cdg |
|
Decreased circulating IgG level, Hepatosplenomegaly, Decreased circulating IgA level, Cardiomegal... |
ORPHA:79330 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Adrenocorticotropin deficient adrenal insufficiency, Failure to thrive, Recurrent hypoglycemia, D... |
ORPHA:293978 |
| Pancreatic Lipase Deficiency |
|
Steatorrhea, Hypocholesterolemia |
OMIM:614338 |
| Infantile Krabbe Disease |
|
Cachexia, Failure to thrive |
ORPHA:206436 |
| Celiac Disease, Susceptibility To, 1 |
|
Type I diabetes mellitus, Alopecia, Failure to thrive, Postnatal growth retardation, Weight loss,... |
OMIM:212750 |
| Chronic Hiccup |
|
Weight loss |
ORPHA:396 |
| Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Thrombo... |
OMIM:231200 |
| Phosphoglycerate Dehydrogenase Deficiency |
|
Megaloblastic anemia, Thrombocytopenia |
OMIM:601815 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Bone marrow hypocellularity, Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leu... |
OMIM:127550 |
| Intrahepatic Cholestasis Of Pregnancy |
|
Hyperbilirubinemia, Increased serum bile acid concentration |
ORPHA:69665 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Hepatic fibrosis, Bone marrow hypocellularity, Aplastic anemia, Failure to thrive, Pancytopenia, ... |
OMIM:613989 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Increased mitochondrial number, Decreased activity of mitochondrial complex IV, Hyperglycinemia |
OMIM:619063 |
| Zebra Body Myopathy |
|
Rimmed vacuoles, Nemaline bodies, Limb-girdle muscular dystrophy, Myofibrillar myopathy, EMG: myo... |
ORPHA:97240 |
| Renal Tubular Dysgenesis |
|
Abnormality of the urinary system, Renotubular dysgenesis, Anuria |
OMIM:267430 |
| Glycosylphosphatidylinositol Biosynthesis Defect 25 |
|
Sparse hair, Coarse hair, Short stature |
OMIM:619985 |
| Cardiofaciocutaneous Syndrome 3 |
|
Short stature, Failure to thrive, Curly hair |
OMIM:615279 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Chronic kidney disease, Unexplained fevers, Atypical scarring of skin, Recurrent fever, Fasciitis... |
ORPHA:642 |
| Glycogen Storage Disease Xii |
|
Normocytic anemia, Increased variability in muscle fiber diameter, Cholelithiasis, Hyperbilirubin... |
OMIM:611881 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Failure to thrive, Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate producti... |
OMIM:612714 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Macrothrombocytopenia, Thrombocytopenia, Decreased platelet glycoprotein Ib, Neutropenia |
OMIM:603585 |
| Cardiofaciocutaneous Syndrome 2 |
|
Sparse hair, Absent eyebrow, Fine hair, Curly hair |
OMIM:615278 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin resistance, Flexion contracture, Hyperlipidemia |
ORPHA:90153 |
| Snakebite Envenomation |
|
Hypopituitarism, Pain, Rhabdomyolysis, Hyponatremia, Thrombocytopenia, Muscle fiber necrosis |
ORPHA:449285 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Cachexia |
ORPHA:300605 |
| Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Hepatic failure, Exercise intolerance, Skeletal muscle atrophy, Failure to thrive, Hypoglycemia, ... |
OMIM:252010 |
| Microphthalmia/Coloboma 12 |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic disc coloboma, Chorioretinal ... |
OMIM:120200 |
| Macrocephaly/Autism Syndrome |
|
Lymphopenia, Obesity, Large for gestational age, Splenomegaly, Hepatomegaly, Decreased circulatin... |
OMIM:605309 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia |
OMIM:601847 |
| Combined Oxidative Phosphorylation Deficiency 40 |
|
Decreased liver function, Hypoglycemia, Decreased activity of mitochondrial complex IV, Decreased... |
OMIM:618835 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Eosino... |
ORPHA:139402 |
| Congenital Myopathy 4A, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Failure to thrive, Type 1 fibers relatively smaller t... |
OMIM:255310 |
| Hypercalcemia, Infantile, 2 |
|
Renal phosphate wasting, Nephrocalcinosis, Failure to thrive, Medullary nephrocalcinosis, Hyperca... |
OMIM:616963 |
| Combined Oxidative Phosphorylation Deficiency 42 |
|
Decreased liver function, Hypoglycemia, Decreased activity of mitochondrial complex IV, Decreased... |
OMIM:618839 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Conjugated hyperbilirubinemia |
OMIM:211600 |
| Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Generalized limb musc... |
OMIM:608358 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Renovascular hypertension, Type II diabetes mellitus, Overweight, Hypercholesterolemia |
ORPHA:401923 |
| Woolly Hair, Autosomal Dominant |
|
Dry hair, Coarse hair, Abnormal eyebrow morphology, Slow-growing hair, Abnormal eyelash morpholog... |
OMIM:194300 |
| Hyperaldosteronism, Familial, Type Iii |
|
Polydipsia, Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level, Hypercalc... |
OMIM:613677 |
| Congenital Analbuminemia |
|
Hypoalbuminemia, Obesity, Hyperlipidemia, Increased circulating antibody level, Lipodystrophy, Hy... |
ORPHA:86816 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubinemia, Anemia of inadequate product... |
OMIM:613673 |
| Alström Syndrome |
|
Chronic kidney disease, Decreased circulating T4 concentration, Hyperinsulinemia, Hepatosplenomeg... |
ORPHA:64 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Recurrent hypoglycemia, Cholestasis, Acute hepatic failure, Decreased activity of mitochondrial c... |
OMIM:256810 |
| Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Precocious puberty, Hypoplastic thumbnail, Hypoplastic fingernail, Hypoplastic fifth fingernail, ... |
OMIM:619356 |
| Thrombocythemia 1 |
|
Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce... |
OMIM:187950 |
| Stormorken Syndrome |
|
Howell-Jolly bodies, Myalgia, Myopathy, Elevated circulating creatine kinase concentration, Throm... |
OMIM:185070 |
| Costello Syndrome |
|
Failure to thrive in infancy, Abnormal hair morphology, Abnormal fingernail morphology, Cryptorch... |
ORPHA:3071 |
| Yellow Fever |
|
Acute kidney injury, Vomiting, Diarrhea, Anuria, Pancreatic hyperplasia, Fever, Elevated circulat... |
ORPHA:99829 |
| Thrombocytopenia 5 |
|
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... |
OMIM:616216 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Precocious puberty, Decreased body weight |
OMIM:300958 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Rhabdomyolysis, Elevated circulating creatine ... |
OMIM:617070 |
| Combined Oxidative Phosphorylation Deficiency 49 |
|
Exercise intolerance, Myalgia, Decreased activity of mitochondrial complex IV, Ragged-red muscle ... |
OMIM:619024 |
| Dehydrated Hereditary Stomatocytosis |
|
Neonatal hyperbilirubinemia, Anemia of inadequate production, Increased circulating hemoglobin co... |
ORPHA:3202 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Absent circulating B cells, Failure to thrive, Thrombocytopenia |
OMIM:619693 |
| Thymic Neuroendocrine Tumor |
|
Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increa... |
ORPHA:97289 |
| Radio-Tartaglia Syndrome |
|
Precocious puberty, Highly arched eyebrow, High anterior hairline, Small nail, Obesity, Long eyel... |
OMIM:619312 |
| Congenital Disorder Of Glycosylation, Type Iiaa |
|
Hepatic fibrosis, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, Hepatic failure, ... |
OMIM:620454 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Intrauterine growth retardation, Microlissencephaly, Vaginal atresia, Hypoplasia of the uterus, S... |
OMIM:617914 |
| Nijmegen Breakage Syndrome |
|
Abnormal hair morphology, Low anterior hairline, Abnormality of neuronal migration, Cachexia, Abn... |
ORPHA:647 |
| Hoyeraal-Hreidarsson Syndrome |
|
Bone marrow hypocellularity, Failure to thrive, Neoplasm, Abnormal leukocyte morphology, Thromboc... |
ORPHA:3322 |
| Tick-Borne Encephalitis |
|
Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Leukopenia, Lim... |
ORPHA:297 |
| Sickle Cell Anemia |
|
Splenic infarction, Cholelithiasis, Hypochromic anemia, Increased mean corpuscular volume, Pigmen... |
ORPHA:232 |
| Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies |
|
Umbilical hernia, Lymphopenia, Pancytopenia, Leukopenia, Obesity, Inguinal hernia, Thrombocytopen... |
OMIM:620654 |
| Sotos Syndrome |
|
Gastroesophageal reflux, Tall stature, Glucose intolerance, Increased body weight, Aggressive beh... |
OMIM:117550 |
| Hall-Riggs Syndrome |
|
Coarse hair, Failure to thrive, Thick hair, Slow-growing hair, Short stature |
ORPHA:2107 |
| Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay |
|
Platelet anisocytosis, Umbilical hernia, Thrombocytopenia, Patent ductus arteriosus, Increased me... |
OMIM:620475 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Umbilical hernia, Cholestasis, Decreased circ... |
OMIM:610199 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Hypochromic anemia, Elevated circulating parathyroid hormone level, Failure to thrive, Leukocytos... |
ORPHA:289157 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Esophageal carcinoma, Type I diabetes mellitus, Hepatitis, Lymphopenia, Hepatosplenomegaly, Autoi... |
ORPHA:391487 |
| Kaposiform Lymphangiomatosis |
|
Exercise intolerance, Chest pain, Hepatosplenomegaly, Splenomegaly, Lymphangioma, Abnormality of ... |
ORPHA:464329 |
| Primary Biliary Cholangitis |
|
Xanthelasma, Cirrhosis, Increased circulating IgA level, Hepatomegaly, Jaundice, Ascites, Abnorma... |
ORPHA:186 |
| Mannosidosis, Alpha B, Lysosomal |
|
Macroglossia, Inguinal hernia, Splenomegaly, Hepatomegaly, Vacuolated lymphocytes, Decreased circ... |
OMIM:248500 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... |
ORPHA:251380 |
| Bleeding Disorder, Platelet-Type, 25 |
|
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll... |
OMIM:620486 |
| 48,Xxxy Syndrome |
|
Gastroesophageal reflux, Hypogonadism, Tall stature, Obesity, Abnormal dental enamel morphology, ... |
ORPHA:96263 |
| Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Dyspareunia, Primary a... |
ORPHA:3109 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
EMG: myopathic abnormalities, Exercise intolerance, Facial palsy, Ragged-red muscle fibers |
OMIM:609283 |
| Spastic Paraplegia 29, Autosomal Dominant |
|
Neonatal hyperbilirubinemia |
OMIM:609727 |
| Tenorio Syndrome |
|
Hypoinsulinemia, Macroglossia, Hypoglycemia |
OMIM:616260 |
| Hirschsprung Disease |
|
Failure to thrive in infancy, Weight loss, Short stature, Neoplasm of the thyroid gland |
ORPHA:388 |
| Myopathy, X-Linked, With Excessive Autophagy |
|
Proximal muscle weakness in lower limbs, Skeletal muscle autophagosome accumulation, Skeletal mus... |
OMIM:310440 |
| Cockayne Syndrome |
|
Severe short stature, Dry hair, Growth delay, Fine hair, Absence of pubertal development, Postnat... |
ORPHA:191 |
| Camptobrachydactyly |
|
Abnormal fingernail morphology, Septate vagina, Hypoplastic toenails |
ORPHA:1319 |
| Ornithine Transcarbamylase Deficiency |
|
Hyperammonemia, Hepatic failure, Splenomegaly, Hypoglycemia |
ORPHA:664 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Elevated circulating 17-hydroxyprogesterone concentration, Microphallus, Bifid scrotum, Adrenal i... |
OMIM:201810 |
| Osteopetrosis, Autosomal Dominant 3 |
|
Hyperparathyroidism, Asthenia, Splenomegaly, Hepatomegaly, Fatigue, Anemia |
OMIM:618107 |
| Smith-Lemli-Opitz Syndrome |
|
Cholestatic liver disease, Hypoalbuminemia, Precocious puberty, Failure to thrive, Hypocholestero... |
OMIM:270400 |
| Dyskeratosis Congenita |
|
Bone marrow hypocellularity, Hepatic failure, Lymphoma, Neoplasm, Splenomegaly, Hepatomegaly, Cir... |
ORPHA:1775 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Increased circulating ferritin concentration, Hypogonadism, Sideroblastic anemia, Azoospermia, Sp... |
OMIM:615234 |
| Angelman Syndrome Due To A Point Mutation |
|
Broad-based gait, Heat intolerance, Inappropriate laughter, Gait imbalance, Abnormal eating behav... |
ORPHA:411511 |
| Lysinuric Protein Intolerance |
|
Skeletal muscle atrophy, Hemophagocytosis, Failure to thrive, Increased circulating ferritin conc... |
OMIM:222700 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Parathyroid hypoplasia, Uterus didelphys, Septate vagina, Hypoparathyroidism, Aplasia of the uter... |
ORPHA:2237 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Decreased circulating antibody level, Autoimmune hemolytic anemia, Thrombocytopenia |
OMIM:616576 |
| Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities |
|
Flexion contracture, Muscle fiber atrophy, Failure to thrive, Elevated circulating creatine kinas... |
OMIM:620240 |
| Mccune-Albright Syndrome |
|
Precocious puberty, Irregular menstruation, Increased circulating cortisol level, Increased circu... |
ORPHA:562 |
| Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Failure to thrive, Thrombocytopenia |
OMIM:616577 |
| Congenital Myopathy 22A, Classic |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:620351 |
| Congenital Erythropoietic Porphyria |
|
Neoplasm of the skin, Leukopenia, Erythroid hyperplasia, Abnormal circulating porphyrin concentra... |
ORPHA:79277 |
| Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
| Nephronophthisis 9 |
|
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Polyuria, Renal cortical microcysts |
OMIM:613824 |
| Von Willebrand Disease, Platelet-Type |
|
Intermittent thrombocytopenia |
OMIM:177820 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Giant platelets, Failure to thrive in infancy, Cholesteatoma, Anemia, Left ventricular hypertroph... |
OMIM:611209 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Short stature, Sparse hair, Brittle hair, Coarse hair |
ORPHA:1883 |
| Bethlem Muscular Dystrophy |
|
Rimmed vacuoles, Ankle flexion contracture, Muscular dystrophy, Cigarette-paper scars, Interphala... |
ORPHA:610 |
| Cushing Disease |
|
Increased circulating cortisol level, Increased urinary cortisol level, Lymphopenia, Increased ci... |
ORPHA:96253 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Cellulitis, Lymphadenitis, Impaired oxidative burst, Deficiency or absence of cytochrome b(-245),... |
OMIM:233690 |
| Methylmalonic Aciduria, Cbla Type |
|
Failure to thrive, Pancytopenia, Hyperglycinemia, Hyperammonemia, Hepatomegaly, Thrombocytopenia,... |
OMIM:251100 |
| Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Hypothyroidism, Ragged-red muscle fibers, Mildly elevated creatine kinase, Abnormal mitochondria ... |
ORPHA:663 |
| Marinesco-Sjogren Syndrome |
|
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Failure to ... |
OMIM:248800 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio... |
ORPHA:404454 |
| Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Nemaline bodies, Increased variability in muscle fiber diameter, Increased endomysial connective ... |
OMIM:620265 |
| Renal Nutcracker Syndrome |
|
Varicocele, Dysmenorrhea, Vulval varicose vein, Weight loss, Dyspareunia, Infertility |
ORPHA:71273 |
| Pediatric Systemic Lupus Erythematosus |
|
Microangiopathic hemolytic anemia, Ascites, Lymphopenia, Leukopenia, Chest pain, Myositis, Arthra... |
ORPHA:93552 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Failure to thriv... |
OMIM:613812 |
| Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Growth delay, Ectopic anterior pituitary gland, Hypopituitarism, Dec... |
ORPHA:90695 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Unconjugated hyperbilirubinemia, Reduced haptoglobin level |
OMIM:266200 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Type I diabetes mellitus, Elevated circulating hepatic transaminase concentration, Increased hepa... |
OMIM:619525 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Type I diabetes mellitus, Retroperitoneal fibrosis, Pancreatic hypoplasia, Camptodactyly of finge... |
OMIM:602782 |
| Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Increased circulating prolactin concentration, Decreased circulating T4 concentration, Reduced ra... |
ORPHA:99832 |
| Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Sparse eyebrow, Leukonychia, Nail dysplasia, Brittle hair, Sparse hair |
OMIM:104100 |
| Anterior Cutaneous Nerve Entrapment Syndrome |
|
Leukocytosis, Inguinal hernia, Decreased body weight, Abdominal pain, Back pain, Allodynia |
ORPHA:51890 |
| Porphyria, Congenital Erythropoietic |
|
Joint contracture of the hand, Atypical scarring of skin, Cholelithiasis, Elevated circulating ur... |
OMIM:263700 |
| Braddock-Carey Syndrome 1 |
|
Camptodactyly, Enamel hypoplasia, Thrombocytopenia |
OMIM:619980 |
| Neutral Lipid Storage Disease With Myopathy |
|
Exercise intolerance, Elevated circulating hepatic transaminase concentration, Myalgia, Chronic p... |
OMIM:610717 |
| Chronic Bilirubin Encephalopathy |
|
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia |
ORPHA:529808 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Sparse hair, Sparse pubic hair, Sparse eyebrow, Fair hair, Decreased response to growth hormone s... |
OMIM:129900 |
| Acute Bilirubin Encephalopathy |
|
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia |
ORPHA:529799 |
| Aneurysm Of Sinus Of Valsalva |
|
Oliguria |
ORPHA:1054 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Coarse hair, Failure to thrive, Polymicrogyria, Postnatal growth retardation, Intrauterine growth... |
ORPHA:357074 |
| Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Myofibrillar myopathy, Skeletal ... |
ORPHA:34516 |
| Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:301075 |
| Trichothiodystrophy 2, Photosensitive |
|
Short stature, Tiger tail banding, Coarse hair |
OMIM:616390 |
| Myopathy, Myofibrillar, 8 |
|
Centrally nucleated skeletal muscle fibers, Nemaline bodies, Limb muscle weakness, Joint contract... |
OMIM:617258 |
| Septo-Optic Dysplasia Spectrum |
|
Polydipsia, Obesity, Constipation, Maternal diabetes, Anterior pituitary hypoplasia, Hypoplasia o... |
ORPHA:3157 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Facial paralysis, Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Thrombocytopeni... |
OMIM:259710 |
| Pseudo-Torch Syndrome 3 |
|
Lymphadenitis, Increased circulating ferritin concentration, Leukocytosis, Cardiomegaly, Congenit... |
OMIM:618886 |
| Camurati-Engelmann Disease |
|
Hypogonadism, Slender build, Cachexia, Delayed puberty |
ORPHA:1328 |
| Reticular Dysgenesis |
|
Weight loss, Failure to thrive, Aplasia/Hypoplasia of the thymus |
ORPHA:33355 |
| Zika Virus Disease |
|
Arthralgia, Myalgia, Increased circulating IgM level, Thrombocytopenia |
ORPHA:448237 |
| Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Polymicrogyria, Large for gestational age, Cryptorchidism, Curly hair, Hypospadias |
ORPHA:457485 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm... |
OMIM:615193 |
| Overhydrated Hereditary Stomatocytosis |
|
Hyperbilirubinemia |
OMIM:185000 |
| Amyotrophic Lateral Sclerosis |
|
Cachexia |
ORPHA:803 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Limb muscle weakness, Myopathy, Hypomimic face, Quadriceps muscle weakness, Goiter, Abnormality o... |
ORPHA:254892 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Sparse pubic hair, Sparse eyebrow, Fair hair, Decreased response to growth hormone stimulation te... |
OMIM:604292 |
| Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Shoulder girdle ... |
OMIM:601846 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle autophagosome accumu... |
OMIM:619518 |
| Adams-Oliver Syndrome |
|
Failure to thrive, Ascites, Leukopenia, Portal hypertension, Congenital hepatic fibrosis, Cirrhos... |
ORPHA:974 |
| Bleeding Disorder, Platelet-Type, 20 |
|
Thrombocytopenia |
OMIM:616913 |
| Von Willebrand Disease, Type 2 |
|
Thrombocytopenia |
OMIM:613554 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Left ventricular hypertrophy, Diabetes mellitus, Ragged-red muscle fibers, Myopathy |
OMIM:540000 |
| Drug-Induced Lupus Erythematosus |
|
Myalgia, Elevated circulating creatine kinase concentration, Arthralgia, Increased blood urea nit... |
ORPHA:231111 |
| Hyper-Igd Syndrome |
|
Lymphadenitis, Hepatosplenomegaly, Myalgia, Leukocytosis, Splenomegaly, Renal angiomyolipoma, Inc... |
OMIM:260920 |
| New-Onset Refractory Status Epilepticus |
|
Abnormal circulating interleukin concentration, Infectious encephalitis |
ORPHA:363558 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Congenital adrenal hyperplasia, Increased serum testosterone level, Inguinal hernia, Thrombocytop... |
ORPHA:96181 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Broad-based gait, Heat intolerance, Inappropriate laughter, Gait imbalance, Abnormal eating behav... |
ORPHA:98794 |
| Dysbetalipoproteinemia |
|
Acute pancreatitis, Xanthelasma, Obesity, Hepatic steatosis, Renal steatosis, Hypercholesterolemi... |
ORPHA:412 |
| Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia, Refract... |
OMIM:619523 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Abnormal temper tantrums, Gastroesophageal reflux, Failure to thrive, Hypogonadism, Overweight, O... |
ORPHA:500055 |
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Clitoral hypertrophy, Septate vagina, Intrauterine growth retardation, Labial hypoplasia, Short s... |
OMIM:300707 |
| Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Neutrophilia, Hepatitis, Increased circulating IgE level, Leukocytosis, Autoimmune hemolytic anem... |
OMIM:620565 |
| Oculoskeletodental Syndrome |
|
Elbow flexion contracture, Splenomegaly, Hypocalcemia, Hypothyroidism, Hepatomegaly, Macroglossia... |
OMIM:618440 |
| Primary Sjögren Syndrome |
|
Normocytic anemia, Thyroiditis, Biliary cirrhosis, Lymphoma, Chronic active hepatitis, Chronic pa... |
ORPHA:289390 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Polydipsia, Hypernatriuria, Failure to thrive, Hyperaldosteronism, Decreased gl... |
OMIM:602522 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Bone marrow hypocellularity, Pancytopenia, Cirrhosis, Thrombocytopenia, Testicular atrophy |
OMIM:613987 |
| Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
| Pseudohypoparathyroidism, Type Ib |
|
Low urinary cyclic AMP response to PTH administration, Obesity, Elevated circulating parathyroid ... |
OMIM:603233 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Acute pancreatitis, Recurrent tonsillitis, Granuloma, Lymphadenitis, Lymphopenia, Hepatosplenomeg... |
OMIM:618935 |
| Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Absence of pubertal developm... |
OMIM:619755 |
| Huntington Disease |
|
Weight loss, Abnormal libido, Decreased body mass index |
ORPHA:399 |
| Aicardi-Goutieres Syndrome 7 |
|
Hepatitis, Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Hepatic stea... |
OMIM:615846 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Optic atrophy, Pigmentary retinopathy, Elevated circulating phytanic acid concentration, Microgna... |
OMIM:614866 |
| Hypotrichosis 13 |
|
Abnormal sweat gland morphology, Sparse hair, Woolly hair, Sparse eyelashes |
OMIM:615896 |
| Noonan Syndrome 9 |
|
Short stature, Sparse eyebrow, Cryptorchidism, Curly hair |
OMIM:616559 |
| Myasthenic Syndrome, Congenital, 12 |
|
Proximal amyotrophy, Facial palsy, Mildly elevated creatine kinase, Ragged-red muscle fibers |
OMIM:610542 |
| Cardiofaciocutaneous Syndrome 4 |
|
Decreased response to growth hormone stimulation test, Alopecia of scalp, Sparse eyelashes, Absen... |
OMIM:615280 |
| Amegakaryocytic Thrombocytopenia, Congenital, 2 |
|
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia... |
OMIM:620481 |
| Immunodeficiency 67 |
|
Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... |
OMIM:607676 |
| Wolfram Syndrome 1 |
|
Sideroblastic anemia, Hypothyroidism, Megaloblastic anemia, Thrombocytopenia, Testicular atrophy,... |
OMIM:222300 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Hypernatriuria, Failure to thrive, Hyperaldosteronism, Decreased glomerular fil... |
OMIM:613090 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Highly arched eyebrow, Cryptorchidism, Low anterior hairline, Hirsutism, Broad eyebrow, Woolly ha... |
OMIM:619244 |
| Thyrocerebroretinal Syndrome |
|
Skeletal muscle atrophy, Thrombocytopenia, Goiter |
OMIM:274240 |
| Ectodermal Dysplasia 13, Hair/Tooth Type |
|
Sparse eyelashes, Thin eyebrow, Low anterior hairline, Brittle hair |
OMIM:617392 |
| Abdominal Obesity-Metabolic Syndrome 4 |
|
Obesity, Type II diabetes mellitus, Hypertriglyceridemia |
OMIM:618620 |
| Neutral Lipid Storage Myopathy |
|
Rimmed vacuoles, Elevated circulating hepatic transaminase concentration, Generalized limb muscle... |
ORPHA:98908 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Renal cortical hyperechogenicity, Anuria, Megacystis, Pyelonephritis, Peritonitis, Fetal megacystis |
OMIM:619351 |
| 19P13.12 Microdeletion Syndrome |
|
Precocious puberty, Obesity, Intrauterine growth retardation, Cryptorchidism, Generalized hirsuti... |
ORPHA:254346 |
| Hand-Foot-Genital Syndrome |
|
Uterus didelphys, Bifid scrotum, Small nail, Chordee, Micropenis, Hypospadias, Longitudinal vagin... |
OMIM:140000 |
| Pili Torti, Early-Onset |
|
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Co... |
OMIM:261900 |
| Sickle Cell Disease |
|
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg... |
OMIM:603903 |
| Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Abnormality of the uterus, Hypertrichosis, Pancreatic lymphangiectasis, Postnatal growth retardat... |
ORPHA:1655 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Precocious puberty, Disproportionate short stature, Fine hair, Abnormal female external genitalia... |
ORPHA:2637 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Failure to thrive, Exocrine pancreatic insufficiency, Hyperechogenic pancreas,... |
OMIM:617941 |
| 46,Xy Sex Reversal 7 |
|
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... |
OMIM:233420 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Growth delay, Hypospadias, Fine hair, Synophrys |
OMIM:619428 |
| Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Interosseus muscle atrophy, Distal lower limb amyotrophy, Decreased activity of mitochondrial com... |
OMIM:500013 |
| Sheehan Syndrome |
|
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... |
ORPHA:91355 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Hyperkalemia, Hemangioma, Microangiopathic hemolytic anemia |
OMIM:141000 |
| Dentici-Novelli Neurodevelopmental Syndrome |
|
Precocious puberty, Simplified gyral pattern |
OMIM:619877 |
| Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Centrally nucleated skeletal muscle fibers, Ankle flexion contracture, Increased variability in m... |
OMIM:617072 |
| Giant Axonal Neuropathy |
|
Woolly hair, Pili canaliculi, Abnormal pituitary gland morphology |
ORPHA:643 |
| Classic Multiminicore Myopathy |
|
Muscular dystrophy, Failure to thrive, Muscle fiber atrophy, Multiple joint contractures, Increas... |
ORPHA:324604 |
| Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Acute leukemia, Lymphoma, Microcytic anemia, Lymphopenia, Chest p... |
ORPHA:906 |
| Cranioectodermal Dysplasia 2 |
|
Retrognathia, Widely spaced teeth, Micrognathia, Hyperbilirubinemia, Microdontia, Fused teeth, Sm... |
OMIM:613610 |
| Odontotrichoungual-Digital-Palmar Syndrome |
|
Abnormality of hair texture, Nail dysplasia, Nail dystrophy |
OMIM:601957 |
| Glycogen Storage Disease Ib |
|
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Xanthelasma, Hyperlipidemi... |
OMIM:232220 |
| Granulomatous Disease, Chronic, X-Linked |
|
Cellulitis, Granuloma, Lymphadenitis, Ascites, Impaired oxidative burst, Deficiency or absence of... |
OMIM:306400 |
| Central Diabetes Insipidus |
|
Weight loss, Failure to thrive, Diabetes insipidus |
ORPHA:178029 |
| Senior-Loken Syndrome 9 |
|
Hepatic fibrosis, Nephronophthisis, Cholestasis, Hypogonadism, Obesity, Stage 5 chronic kidney di... |
OMIM:616629 |
| King-Denborough Syndrome |
|
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Failure to thrive, Muscle fiber at... |
OMIM:619542 |
| Acrogeria |
|
Short stature, Fine hair |
ORPHA:2500 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Exercise intolerance, Decreased activity of mitochondrial complex IV, Ragged-red muscle fibers, E... |
OMIM:615084 |
| Wiskott-Aldrich Syndrome |
|
Decreased mean platelet volume, Decreased specific anti-polysaccharide antibody level, Decreased ... |
OMIM:301000 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Cholelithiasis, Failure to thrive in infancy, Abnormal circulating aldosterone, Glucocortocoid-in... |
ORPHA:171876 |
| Inflammatory Pseudotumor Of The Liver |
|
Weight loss, Diabetes mellitus |
ORPHA:90003 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Failure to thrive, Impaired T cell function, Hypogonadism, Decreased serum testosterone concentra... |
OMIM:201100 |
| Trichothiodystrophy 7, Nonphotosensitive |
|
Tiger tail banding, Brittle hair |
OMIM:618546 |
| Distal Duplication 6P |
|
Fine hair, Intrauterine growth retardation, Abnormal hair quantity, Short stature, Abnormal eyela... |
ORPHA:1745 |
| Beckwith-Wiedemann Syndrome |
|
Congenital diaphragmatic hernia, Hepatoblastoma, Hepatomegaly, Neonatal hypoglycemia, Visceromega... |
ORPHA:116 |
| Koolen-De Vries Syndrome |
|
Fair hair, Failure to thrive, Intrauterine growth retardation, Cryptorchidism, Short stature, Abn... |
OMIM:610443 |
| Acute Adrenal Insufficiency |
|
Failure to thrive, Androgen insufficiency, Increased circulating ACTH level, Primary adrenal insu... |
ORPHA:95409 |
| Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Minicore myopathy, Flexion contracture, Arthrogryposis multiplex congenita, Increased endomysial ... |
ORPHA:178148 |
| Mckusick-Kaufman Syndrome |
|
Failure to thrive, Hydrometrocolpos, Glandular hypospadias, Cryptorchidism, Urogenital sinus anom... |
ORPHA:2473 |
| Optic Pathway Glioma |
|
Precocious puberty, Growth delay |
ORPHA:2086 |
| Cold Agglutinin Disease |
|
Splenomegaly, Arthralgia, Fatigue, Lymphadenopathy, Hepatomegaly, Hemolytic anemia, Back pain |
ORPHA:56425 |
| Myopathy, Centronuclear, 4 |
|
Centrally nucleated skeletal muscle fibers, Exercise intolerance, Abnormal circulating creatine k... |
OMIM:614807 |
| Carney Complex |
|
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level... |
ORPHA:1359 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Weight loss |
ORPHA:2198 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Failure to thrive, Thrombocytopenia |
OMIM:615597 |
| Palmoplantar Keratoderma, Epidermolytic, 2 |
|
Curly hair |
OMIM:620411 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis, ... |
OMIM:224120 |
| Bartter Syndrome, Type 3 |
|
Nephrocalcinosis, Hyperchloriduria, Hypocalciuria, Hyperaldosteronism, Increased urinary potassiu... |
OMIM:607364 |
| Stt3B-Cdg |
|
Failure to thrive, Thrombocytopenia |
ORPHA:370924 |
| Myopathy, Centronuclear, 2 |
|
Centrally nucleated skeletal muscle fibers, Scapular winging, Flexion contracture, Facial palsy, ... |
OMIM:255200 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Short stature, Cachexia, Abnormality of the thyroid gland |
ORPHA:1969 |
| Trichothiodystrophy 8, Nonphotosensitive |
|
Trichorrhexis nodosa, Woolly hair, Sparse eyebrow, Sparse hair |
OMIM:619691 |
| Hurler-Scheie Syndrome |
|
Umbilical hernia, Camptodactyly of finger, Contracture of the distal interphalangeal joint of the... |
OMIM:607015 |
| Copper Deficiency, Familial Benign |
|
Early balding, Failure to thrive, Curly hair |
OMIM:121270 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Decreased muscle mass, Muscle fiber atrophy, Myalgia, Exercise-induced rhabdomyolysis, Skeletal m... |
ORPHA:57 |
| Imerslund-Gräsbeck Syndrome |
|
Anisopoikilocytosis, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancytopenia, Ret... |
ORPHA:35858 |
| Fucosidosis |
|
Macroglossia, Failure to thrive, Splenomegaly, Hernia, Cardiomegaly, Hepatomegaly, Vacuolated lym... |
OMIM:230000 |
| Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Decreased response to growth hormone stimulation test, Hypocalcemia, Ragged-re... |
OMIM:606407 |
| Miyoshi Muscular Dystrophy 1 |
|
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Distal amyotrophy, Lower lim... |
OMIM:254130 |
| Fanconi Anemia, Complementation Group V |
|
Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-fe... |
OMIM:617243 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice |
OMIM:224100 |
| Hypomelia With Mullerian Duct Anomalies |
|
Uterus didelphys, Longitudinal vaginal septum |
OMIM:146160 |
| Thalidomide Embryopathy |
|
Insulin resistance |
ORPHA:3312 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Exercise intolerance, Hand muscle weakness, Muscle fiber atrophy, Ragged-red muscle fibers, Myopa... |
ORPHA:254886 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe... |
OMIM:616924 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Nodular regenerative hyperplasia of liver, Hepatic failure, Increased mean corpuscular volume, Po... |
OMIM:620367 |
| Bazex-Dupre-Christol Syndrome |
|
Coarse hair, Trichorrhexis nodosa, Pili torti, Sparse hair, Trichoepithelioma |
OMIM:301845 |
| Anal Fistula |
|
Cellulitis, Chills, Leukocytosis, Anal pain |
ORPHA:228113 |
| Pseudohypoparathyroidism, Type Ic |
|
Elevated circulating parathyroid hormone level, Elevated circulating thyroid-stimulating hormone ... |
OMIM:612462 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Hepatic steatosis, EMG: myopathi... |
ORPHA:52430 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Hepatic failure, Pancytopenia, Ragged-red muscle fibers, Elevated circulating creatine kinase con... |
OMIM:607426 |
| Tubular Aggregate Myopathy |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myalg... |
ORPHA:2593 |
| Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Decreased circulating antibody level, Leukocytosis, Splenomegaly |
OMIM:618042 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Cellulitis, Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopath... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Cellulitis, Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopath... |
OMIM:233710 |
| Ogden Syndrome |
|
Abnormality of the dentition, Narrow palate, Microretrognathia, Everted upper lip vermilion, Long... |
OMIM:300855 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Polydipsia, Elevated circulating parathyroid hormone level, Nephrolithiasis, Polyuria, Parathyroi... |
OMIM:617994 |
| Hereditary Spherocytosis |
|
Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration... |
ORPHA:822 |
| Isolated Biliary Atresia |
|
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Small for gestation... |
ORPHA:30391 |
| Gaucher Disease Type 3 |
|
Pancytopenia, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Fatigue, Delayed ... |
ORPHA:77261 |
| Multiple Endocrine Neoplasia, Type I |
|
Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Hypoglycemia, Subcutane... |
OMIM:131100 |
| Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
| Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Decreased activity of mitochondrial complex I, Ragged-red muscle fibers, Myopathy |
OMIM:618242 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Unconjugated hyperbilirubinemia, Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz... |
OMIM:300908 |
| Netherton Syndrome |
|
Brittle scalp hair, Sparse eyebrow, Failure to thrive, Brittle hair, Sparse scalp hair |
OMIM:256500 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Distal amyotrophy, Upper limb muscle weakness, Lower limb muscle weakness, Angulated muscle fiber... |
OMIM:608340 |
| Myh9-Related Disease |
|
Elevated circulating hepatic transaminase concentration, Giant platelets, Congenital thrombocytop... |
ORPHA:182050 |
| Pseudo-Torch Syndrome 2 |
|
Elevated circulating hepatic transaminase concentration, Ascites, Thrombocytopenia, Hepatomegaly,... |
OMIM:617397 |
| Hutchinson-Gilford Progeria Syndrome |
|
Insulin resistance, Shuffling gait, Delayed menarche, Absence of subcutaneous fat, Cyanosis, Seve... |
ORPHA:740 |
| Juvenile Polyposis Of Infancy |
|
Short stature, Cachexia, Freckled genitalia |
ORPHA:79076 |
| Alpha-Thalassemia |
|
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... |
ORPHA:846 |
| Waldenström Macroglobulinemia |
|
Normocytic anemia, Monoclonal immunoglobulin M proteinemia, Lymphoma, Splenomegaly, Hepatomegaly,... |
ORPHA:33226 |
| Adams-Oliver Syndrome 5 |
|
Umbilical hernia, Hypersplenism, Splenomegaly, Inguinal hernia, Portal vein thrombosis, Right ven... |
OMIM:616028 |
| Renal Cysts And Diabetes Syndrome |
|
Decreased numbers of nephrons, Pancreatic atrophy, Abnormality of the kidney, Hypospadias, Glucos... |
OMIM:137920 |
| Crimean-Congo Hemorrhagic Fever |
|
Pancytopenia, Arthralgia, Neutrophilia, Hepatomegaly, Jaundice, Abdominal pain, Increased circula... |
ORPHA:99827 |
| Hereditary Elliptocytosis |
|
Neonatal hyperbilirubinemia, Hyperbilirubinemia |
ORPHA:288 |
| Noonan Syndrome 4 |
|
Sparse eyebrow, High anterior hairline, Large for gestational age, Cryptorchidism, Curly hair, Sh... |
OMIM:610733 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Nephrocalcinosis, Renal magnesium wasting, Hyperactivity, Polyuria, Self-biting, Renal potassium ... |
OMIM:618314 |
| Sulfite Oxidase Deficiency, Isolated |
|
Fine hair |
OMIM:272300 |
| Holocarboxylase Synthetase Deficiency |
|
Weight loss, Hyperammonemia, Thrombocytopenia |
ORPHA:79242 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Exercise intolerance, Hypogonadism, Myalgia, Abnormality of the thyroid gland, Limb muscle weakne... |
OMIM:609286 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased circulating IgG level, Failure to thrive, Hepatocellular necrosis, Hepatosplenomegaly, ... |
OMIM:618278 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Exerc... |
OMIM:620138 |
| Myopathy, Centronuclear, 5 |
|
Centrally nucleated skeletal muscle fibers, Abnormal circulating creatine kinase concentration, H... |
OMIM:615959 |
| Hermansky-Pudlak Syndrome 9 |
|
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia |
OMIM:614171 |
| Medullary Thyroid Carcinoma |
|
Elevated circulating calcitonin concentration, Pheochromocytoma, Medullary thyroid carcinoma, Wei... |
ORPHA:1332 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Elevated circulating hepatic tran... |
OMIM:602347 |
| X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Precocious puberty |
ORPHA:457260 |
| Amaurosis-Hypertrichosis Syndrome |
|
Abnormal eyelash morphology, Coarse hair, Thick eyebrow, Synophrys |
ORPHA:1021 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Cholelithiasis, Azoospermia, Cachexia, Delayed puberty, Growth delay |
ORPHA:2072 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:603041 |
| Parenteral Nutrition-Associated Cholestasis |
|
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... |
ORPHA:567983 |
| Norrie Disease |
|
Failure to thrive, Uterine rupture, Cryptorchidism, Cachexia, Delayed puberty, Erectile dysfuncti... |
ORPHA:649 |
| Congenital Disorder Of Glycosylation, Type Iim |
|
Neonatal hyperbilirubinemia, Open mouth, Exaggerated cupid's bow, Short philtrum, Fused teeth, En... |
OMIM:300896 |
| Bainbridge-Ropers Syndrome |
|
Precocious puberty, Highly arched eyebrow, Failure to thrive, Supernumerary nipple, Thin eyebrow,... |
OMIM:615485 |
| Gray Platelet Syndrome |
|
Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Splenomegaly, ... |
OMIM:139090 |
| Platelet Disorder, Undefined |
|
Hematological neoplasm, Neuroblastoma, Thrombocytopenia, Impaired platelet aggregation |
OMIM:173420 |
| Adrenomyeloneuropathy |
|
Frontal balding, Male sexual dysfunction, Female sexual dysfunction, Fine hair, Adrenal insuffici... |
ORPHA:139399 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Bifid uvula, Carious teeth, Natal tooth, Downturned corners of mouth, Optic disc coloboma, Ankylo... |
OMIM:620186 |
| Sabinas Brittle Hair Syndrome |
|
Dry hair, Nail dystrophy, Nail dysplasia, Brittle hair, Sparse hair |
OMIM:211390 |
| Incontinentia Pigmenti |
|
Alopecia, Coarse hair, Fine hair, Supernumerary nipple, Breast aplasia, Breast hypoplasia, Ridged... |
OMIM:308300 |
| Peeling Skin Syndrome 1 |
|
Short stature, Onycholysis, Nail dystrophy, Brittle hair |
OMIM:270300 |
| Rh Deficiency Syndrome |
|
Hyperbilirubinemia, Reduced haptoglobin level |
ORPHA:71275 |
| Kaufman Oculocerebrofacial Syndrome |
|
Hypocholesterolemia, Failure to thrive |
OMIM:244450 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Short stature, Cachexia |
ORPHA:220295 |
| Jaberi-Elahi Syndrome |
|
Sparse eyebrow, Failure to thrive, Fine hair, Sparse eyelashes, Brittle hair, Sparse hair |
OMIM:617988 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hematochezia, Secretory diarrhea, Elevated circulating thyroid-stimulating hormone concentration,... |
OMIM:618183 |
| Narcolepsy 7 |
|
Obesity, Type II diabetes mellitus |
OMIM:614250 |
| Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Scapuloperoneal amy... |
OMIM:255160 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:612999 |
| Noonan Syndrome 7 |
|
Large for gestational age, Low posterior hairline, Curly hair, Short stature, Growth delay |
OMIM:613706 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Cellulitis, Fasciitis, Chest pain, Myalgia, Leukocytosis, Splenomegaly, Myositis, Peritonitis, Ar... |
ORPHA:32960 |
| Koolen-De Vries Syndrome |
|
Cryptorchidism, Hypothyroidism, Short stature, Abnormality of hair texture, Hypopigmentation of h... |
ORPHA:96169 |
| Trichohepatoenteric Syndrome 1 |
|
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Hypermethioninemia, Increased circulating iro... |
OMIM:222470 |
| Systemic Lupus Erythematosus |
|
Leukopenia, Hemolytic anemia, Thrombocytopenia |
OMIM:152700 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Xanthelasma, Hepatic steatosis, Hepatomegaly, Chronic neutropenia, Hypothyroidism, Hypertriglycer... |
ORPHA:79259 |
| Ogden Syndrome |
|
Postnatal growth retardation, Cryptorchidism, Fine hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:276432 |
| Slc35A2-Cdg |
|
Precocious puberty, Elevated circulating thyroid-stimulating hormone concentration, Failure to th... |
ORPHA:356961 |
| Smith-Magenis Syndrome |
|
Precocious puberty, Failure to thrive in infancy, Obesity, Hypothyroidism, Delayed puberty, Short... |
ORPHA:819 |
| Moyamoya Disease 6 With Or Without Achalasia |
|
Thrombocytopenia |
OMIM:615750 |
| Congenital Syphilis |
|
Extramedullary hematopoiesis, Hypoglycemia, Hepatosplenomegaly, Prolonged neonatal jaundice, Panc... |
ORPHA:499009 |
| Trichodermodysplasia-Dental Alterations Syndrome |
|
Adenoma sebaceum, Sparse lateral eyebrow, Fine hair, Abnormal morphology of female internal genit... |
ORPHA:3353 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Increased endomysial connecti... |
OMIM:613157 |
| Fructose Intolerance, Hereditary |
|
Glycosuria, Hypoglycemia, Hyperbilirubinemia, Hyperuricemia, Hypophosphatemia, Bicarbonaturia |
OMIM:229600 |
| Vulto-Van Silfhout-De Vries Syndrome |
|
Horizontal eyebrow, Widow's peak, Fine hair |
OMIM:615828 |
| Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature |
|
Lymphopenia, Leukopenia, Elevated circulating creatinine concentration, Reduced haptoglobin level... |
OMIM:301110 |
| Netherton Syndrome |
|
Sparse eyebrow, Fine hair, Abnormal hair morphology, Trichorrhexis nodosa, Sparse eyelashes, Shor... |
ORPHA:634 |
| Oculopharyngodistal Myopathy |
|
Weight loss |
ORPHA:98897 |
| Pmm2-Cdg |
|
Insulin resistance, Hepatic fibrosis, Vomiting, Elevated circulating hepatic transaminase concent... |
ORPHA:79318 |
| Congenital Myopathy 18 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre... |
OMIM:620246 |
| Hypotrichosis Simplex Of The Scalp |
|
Slow-growing scalp hair, Sparse scalp hair, Alopecia of scalp, Fine hair |
ORPHA:90368 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Fine hair, Supernumerary nipple, Cryptorchidism, Aplastic/hypoplastic toenail, Hypothyroidism, Ap... |
ORPHA:1812 |
| Chops Syndrome |
|
Coarse hair, Long eyelashes, Obesity, Thick eyebrow, Cryptorchidism, Thick hair, Curly hair, Shor... |
OMIM:616368 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Sparse eyebrow, Coarse hair, Sparse eyelashes, Severe postnatal growth retardation, Patchy alopec... |
ORPHA:35173 |
| Helix Syndrome |
|
Hyperparathyroidism, Hypocalciuria, Polydipsia, Xerostomia, Heat intolerance, Renal insufficiency... |
OMIM:617671 |
| Takenouchi-Kosaki Syndrome |
|
Inguinal hernia, Thrombocytopenia, Camptodactyly, Patent ductus arteriosus, Increased mean platel... |
OMIM:616737 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Splenomegaly, Autoimmune hemolytic anemia, Chronic lymphatic leukemia, Arthralgia, Fatigue, Jaund... |
ORPHA:90033 |
| Mccune-Albright Syndrome |
|
Precocious puberty, Hyperparathyroidism, Pituitary adenoma, Increased circulating cortisol level,... |
OMIM:174800 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Increased variability in muscle fiber diameter, Mitochondrial swelling, Lower limb muscle weaknes... |
ORPHA:397744 |
| Fanconi Anemia, Complementation Group D2 |
|
Bone marrow hypocellularity, Annular pancreas, Pancytopenia, Anemia, Reticulocytopenia, Patent du... |
OMIM:227646 |
| Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
| Vexas Syndrome |
|
Macrocytic anemia, Night sweats, Arthralgia, Fatigue, Thrombocytopenia, Elevated circulating C-re... |
OMIM:301054 |
| Acute Radiation Syndrome |
|
Lymphopenia, Granulocytopenia, Fatigue, Thrombocytopenia |
ORPHA:454831 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Hypogonadism, Weight loss, Oligozoospermia, Abnormal testis morphology, Primary testicular failur... |
ORPHA:85450 |
| Autosomal Dominant Centronuclear Myopathy |
|
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... |
ORPHA:169189 |
| Leopard Syndrome 3 |
|
Low posterior hairline, Growth delay, Short stature, Curly hair |
OMIM:613707 |
| Cystic Echinococcosis |
|
Hyperbilirubinemia |
ORPHA:400 |
| Meacham Syndrome |
|
Abnormal vagina morphology, Hydrometrocolpos, Cryptorchidism, Ambiguous genitalia, Abnormal fallo... |
ORPHA:3097 |
| Proteus-Like Syndrome |
|
Thymus hyperplasia, Abnormality of the parathyroid gland, Subcutaneous lipoma, Splenomegaly, Hema... |
ORPHA:2969 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
High, narrow palate, Short uvula, Chorioretinal coloboma, Ankyloglossia, Hyperbilirubinemia, Thin... |
OMIM:619475 |
| Nephronophthisis 11 |
|
Hepatic fibrosis, Tubular basement membrane disintegration, Nephronophthisis, Polydipsia, Stage 5... |
OMIM:613550 |
| Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Exercise intolerance, Failure to thrive, Mitochondrial swelling, Myalgia, Fatigue, Decreased acti... |
OMIM:618250 |
| Lysosomal Acid Lipase Deficiency |
|
Failure to thrive, Adrenal calcification, Primary adrenal insufficiency, Cachexia, Weight loss |
ORPHA:275761 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Increased hepatic glycogen content, Copper accumulation in liver, Elevated hepatic iron concentra... |
OMIM:614946 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Thrombocytopenia |
OMIM:188025 |
| Uncombable Hair Syndrome 1 |
|
Dry hair, Pili canaliculi, Uncombable hair |
OMIM:191480 |
| Lissencephaly Due To Lis1 Mutation |
|
Neonatal hyperbilirubinemia |
ORPHA:95232 |
| Acrofacial Dysostosis, Catania Type |
|
Coarse hair, Intrauterine growth retardation, Cryptorchidism, Abnormal hair pattern, Short statur... |
ORPHA:1786 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Impaired platelet aggregation, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Incre... |
OMIM:617443 |
| Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia |
ORPHA:3217 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Severe short stature, Intrauterine growth retardation, Weight loss, Proportionate short stature |
ORPHA:3208 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Failure to thrive, Cholestasis, Elevated circulating aspartate aminotransferase concentration, De... |
OMIM:614924 |
| Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Intrauterine growth retardation, Hypospadias, Fine hair |
ORPHA:363686 |
| Adult Syndrome |
|
Alopecia, Absent nipple, Toenail dysplasia, Fine hair, Breast hypoplasia, Fingernail dysplasia, H... |
ORPHA:978 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Precocious puberty, Cryptorchidism, Hirsutism, Labial hypoplasia, Micropenis |
OMIM:620073 |
| Atelis Syndrome 2 |
|
Downturned corners of mouth, Diastema, Thick lower lip vermilion, Hyperinsulinemia, Micrognathia,... |
OMIM:620185 |
| Fanconi Anemia, Complementation Group F |
|
Bone marrow hypocellularity, Failure to thrive, Decreased response to growth hormone stimulation ... |
OMIM:603467 |
| Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Rimmed vacuoles, Necrotizing myopathy, Myalgia, Facial diplegia, Foot dorsiflexor weakness, EMG: ... |
ORPHA:329478 |
| Leopard Syndrome 2 |
|
Short stature, Curly hair |
OMIM:611554 |
| Allergic Bronchopulmonary Aspergillosis |
|
Abnormal fingernail morphology, Weight loss |
ORPHA:1164 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate... |
OMIM:153670 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Type 2 muscle fiber predominance, Skeletal muscle atrophy, Hypomagnesemia, Hypophosphatemic ricke... |
OMIM:619743 |
| Bcard Syndrome |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow flexion contracture, C... |
OMIM:612394 |
| Ollier Disease |
|
Precocious puberty |
ORPHA:296 |
| Juvenile Huntington Disease |
|
Weight loss |
ORPHA:248111 |
| Deeah Syndrome |
|
Exocrine pancreatic insufficiency, Decreased response to growth hormone stimulation test, Panhypo... |
OMIM:619004 |
| Arima Syndrome |
|
Hepatic fibrosis, Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Hepatic steatosis... |
OMIM:243910 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hyperbilirubinemia, Hypocalcemia, Thin upper lip vermilion, Short philtrum, Cleft palate |
ORPHA:163979 |
| Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Decreased circulating ferritin concentration, Abnormal muscle fiber protein expression |
ORPHA:330054 |
| Diamond-Blackfan Anemia |
|
Adenocarcinoma of the colon, Macrocytic dyserythropoietic anemia, Increased mean corpuscular volu... |
ORPHA:124 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Increased variability in muscle fiber diameter, Exercise intolerance, Skeletal muscle atrophy, Mu... |
OMIM:258450 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retrognathia, Elevated circulating creatine kinase concentration, Retinal detachment, Remnants of... |
OMIM:614643 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Abnormality of hair texture, Growth delay, Failure to thrive |
ORPHA:88618 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Decreased activity of mitochondrial complex III, Ragged-red muscle fibers |
OMIM:615159 |
| 19P13.3 Microduplication Syndrome |
|
Precocious puberty, Unilateral cryptorchidism, Intrauterine growth retardation, Growth delay |
ORPHA:447980 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Cystathioninemia, Failure to thrive, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia... |
OMIM:277400 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Self-injurious behavior, Horseshoe kidney, Increased body weight, Aggressive behavior, Micropenis |
OMIM:300860 |
| Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia, Small for gesta... |
OMIM:600901 |
| Melas |
|
Type I diabetes mellitus, Exercise intolerance, Failure to thrive, Type II diabetes mellitus, Hyp... |
ORPHA:550 |
| Letterer-Siwe Disease |
|
Hepatosplenomegaly, Neutropenia, Thrombocytopenia, Anemia, Jaundice |
OMIM:246400 |
| Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Nephronophthisis, Polydipsia, Stage 5 chronic kidney di... |
OMIM:256100 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Patent ductus arteriosus, Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
| Cardiofaciocutaneous Syndrome |
|
Fine hair, Failure to thrive in infancy, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyel... |
ORPHA:1340 |
| Nijmegen Breakage Syndrome |
|
Glioma, Lymphoma, Rhabdomyosarcoma, Autoimmune hemolytic anemia, Medulloblastoma, Dysgammaglobuli... |
OMIM:251260 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Rhizomelia, Severe short-limb dwarfism, Weight loss, Failure to thrive |
ORPHA:1842 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Ascites, Abnormality of the liver, Hyperbilirubinemia, Hip contracture, Muscle hemorrhage, Thromb... |
ORPHA:464321 |
| Oculopharyngodistal Myopathy 4 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Elevated circulating creatine ki... |
OMIM:619790 |
| Kasabach-Merritt Phenomenon |
|
Neoplasm of the skin, Microangiopathic hemolytic anemia, Capillary hemangioma, Leukopenia, Reticu... |
ORPHA:2330 |
| Brachycephaly, Trichomegaly, And Developmental Delay |
|
Highly arched eyebrow, Long eyelashes, Thick eyebrow, Brittle hair, Short stature, Synophrys |
OMIM:617412 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Short stature, Failure to thrive, Curly hair |
OMIM:300986 |
| Chromosome 17Q12 Deletion Syndrome |
|
Highly arched eyebrow, Sparse eyebrow, Small nail, Hypertrichosis, Cryptorchidism, Ovarian cyst, ... |
OMIM:614527 |
| Multiple Myeloma |
|
Elevated circulating creatinine concentration, Splenomegaly, Increased circulating IgA level, Fat... |
ORPHA:29073 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Camptodactyly, Failure to thrive in infancy, Anemia, Thrombocytopenia |
ORPHA:261323 |
| Cockayne Syndrome A |
|
Irregular menstruation, Dry hair, Failure to thrive, Hypogonadism, Intrauterine growth retardatio... |
OMIM:216400 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Bone marrow hypocellularity, Leukopenia, Refractory anemia, Thrombocytopenia |
OMIM:231095 |
| Tibial Muscular Dystrophy, Tardive |
|
Rimmed vacuoles, Muscular dystrophy, Tibialis anterior muscle atrophy, Tibialis muscle weakness, ... |
OMIM:600334 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Impaired collagen-induced platelet aggregation, Acute monocytic leukemia, Lymphoma, Impaired arac... |
OMIM:601399 |
| Acrodermatitis Enteropathica |
|
Alopecia, Ridged fingernail, Failure to thrive, Abnormal eyebrow morphology, Ridged nail, Weight ... |
ORPHA:37 |
| Craniofrontonasal Syndrome |
|
Breast hypoplasia, Ridged nail, Cryptorchidism, Low posterior hairline, Split nail, Short stature... |
OMIM:304110 |
| Muscular Dystrophy, Congenital, Megaconial Type |
|
Muscular dystrophy, Increased endomysial connective tissue, Myopathy, Elevated circulating creati... |
OMIM:602541 |
| Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Ragged-red muscle fibers, Hyperammonemia, Rhabdomyolysis, Elevated circulating creatine kinase co... |
OMIM:618416 |
| Gaucher Disease, Type Ii |
|
Failure to thrive, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia |
OMIM:230900 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
| Tyrosinemia, Type I |
|
Hypermethioninemia, Elevated circulating alpha-fetoprotein concentration, Hepatic failure, Elevat... |
OMIM:276700 |
| Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia, Small for gesta... |
OMIM:227650 |
| 9P13 Microdeletion Syndrome |
|
Precocious puberty, Highly arched eyebrow, External genital hypoplasia, Thick eyebrow, Hypoplasti... |
ORPHA:324313 |
| Spherocytosis, Type 5 |
|
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... |
OMIM:612690 |
| Digeorge Syndrome |
|
Cholelithiasis, Parathyroid hypoplasia, Impaired T cell function, Umbilical hernia, Obesity, Sple... |
OMIM:188400 |
| Congenital Myopathy 9B, Proximal, With Minicore Lesions |
|
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Z-band streaming, Type 1 muscle fi... |
OMIM:618823 |
| Johanson-Blizzard Syndrome |
|
Clitoral hypertrophy, Small for gestational age, Abnormality of the nail, Failure to thrive, Fair... |
OMIM:243800 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Weight loss, Growth delay |
OMIM:266600 |
| Mckusick-Kaufman Syndrome |
|
Hydrometrocolpos, Transverse vaginal septum, Cryptorchidism, Vaginal atresia, Rectovaginal fistul... |
OMIM:236700 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Precocious puberty, Disproportionate short stature, Postnatal growth retardation, Intrauterine gr... |
OMIM:210720 |
| Ritscher-Schinzel Syndrome 4 |
|
Micropenis, Short stature, Cryptorchidism, Curly hair |
OMIM:619435 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Alopecia, Sparse eyebrow, Failure to thrive, Nail dystrophy, Sparse eyelashes, Woolly hair |
OMIM:605676 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho... |
OMIM:607626 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Failure to thrive in infancy, Splenomegaly, Abscess, Arthralgia, Elevated circulating C-reactive ... |
OMIM:612852 |
| Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities |
|
High anterior hairline, Dry hair, Coarse hair, Failure to thrive, Nail dystrophy, Woolly scalp ha... |
OMIM:620519 |
| Tricho-Retino-Dento-Digital Syndrome |
|
Sparse hair, Uncombable hair |
ORPHA:1264 |
| Braddock-Carey Syndrome 2 |
|
Thrombocytopenia |
OMIM:619981 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Bone marrow hypocellularity, Hepatic fibrosis, Aplastic anemia, Pancytopenia, Thrombocytopenia |
OMIM:224230 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Weight loss, Hyperthyroidism, Goiter |
OMIM:188580 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Exercise intolerance, Skeletal muscle atrophy, Lower limb muscle weakness, Myalgia, Ragged-red mu... |
OMIM:616479 |
| Budd-Chiari Syndrome |
|
Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Ascites, Portal h... |
ORPHA:131 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Precocious puberty, Large for gestational age, Short stature, Failure to thrive |
ORPHA:261652 |
| 22Q11.2 Deletion Syndrome |
|
Cholelithiasis, Abnormality of thrombocytes, Failure to thrive, Impaired T cell function, Umbilic... |
ORPHA:567 |
| Meacham Syndrome |
|
Septate vagina, Neonatal death, Male pseudohermaphroditism, Stillbirth, Bicornuate uterus, Blind ... |
OMIM:608978 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Hypoalbuminemia, Reduced natural killer cell count, Decreased lymphocyte proliferation in respons... |
OMIM:619381 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Reticulocytosis... |
OMIM:274150 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No... |
OMIM:613470 |
| Stevens-Johnson Syndrome |
|
Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Fatigue, Pancreat... |
ORPHA:36426 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis |
OMIM:617441 |
| Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Long eyelashes, Obesity, Fine hair, Synophrys |
OMIM:620250 |
| Autosomal Recessive Centronuclear Myopathy |
|
Centrally nucleated skeletal muscle fibers, Facial diplegia, Type 1 muscle fiber predominance, Hi... |
ORPHA:169186 |
| Hereditary Chronic Pancreatitis |
|
Leukocytosis, Pancreatic calcification, Recurrent pancreatitis, Abdominal pain, Elevated circulat... |
ORPHA:676 |
| Testicular Agenesis |
|
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Decreased serum testostero... |
ORPHA:325124 |
| Myelofibrosis |
|
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di... |
OMIM:254450 |
| Fanconi Anemia |
|
Umbilical hernia, Hypogonadism, Leukopenia, Abnormality of the liver, Azoospermia, Neoplasm, Pate... |
ORPHA:84 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Bone marrow hypocellularity, Failure to thrive, Pancytopenia, Leukopenia, Hypocalcemia, Elevated ... |
ORPHA:2785 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Neonatal hypoglycemia, Limb hypertonia, Thrombocytopenia, Generalized amyotrophy |
ORPHA:572798 |
| Hellp Syndrome |
|
Elevated circulating hepatic transaminase concentration, Shoulder pain, Microangiopathic hemolyti... |
ORPHA:244242 |
| Renal, Genital, And Middle Ear Anomalies |
|
Vaginal atresia |
OMIM:267400 |
| Striatonigral Degeneration, Infantile, Mitochondrial |
|
Ragged-red muscle fibers |
OMIM:500003 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Neoplasm of the skin, Hypophosphatemia, Atypical scarring of skin, Inguinal hernia, Anemia, Hyper... |
ORPHA:534 |
| Familial Thrombocytosis |
|
Chronic myelogenous leukemia, Chest pain, Splenomegaly, Acute myeloid leukemia, Weight loss, Thro... |
ORPHA:71493 |
| Hyperlipoproteinemia, Type Id |
|
Failure to thrive, Increased circulating chylomicron concentration, Splenomegaly, Hypertriglyceri... |
OMIM:615947 |
| Pleural Mesothelioma |
|
Weight loss |
ORPHA:50251 |
| Lathosterolosis |
|
Intrahepatic cholestasis, Hepatic failure, Failure to thrive, Abnormal platelet morphology, Throm... |
ORPHA:46059 |
| Idiopathic Aplastic Anemia |
|
Bone marrow hypocellularity, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia |
ORPHA:88 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... |
OMIM:618992 |
| Anaplastic Thyroid Carcinoma |
|
Nodular goiter, Weight loss, Anaplastic thyroid carcinoma, Goiter |
ORPHA:142 |
| Retinitis Pigmentosa |
|
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus, Obesity |
ORPHA:791 |
| Simpson-Golabi-Behmel Syndrome |
|
Polysplenia, Umbilical hernia, Camptodactyly of finger, Hypoglycemia, Increased circulating IgE l... |
ORPHA:373 |
| Rift Valley Fever |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Thrombocytopenia, Increased c... |
ORPHA:319251 |
| Multiple Endocrine Neoplasia Type 1 |
|
Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma... |
ORPHA:652 |
| Blue Rubber Bleb Nevus |
|
Abnormality of the liver, Hemangioma, Iron deficiency anemia, Thrombocytopenia, Cerebellar medull... |
OMIM:112200 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Centr... |
ORPHA:401768 |
| Toxic Epidermal Necrolysis |
|
Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Fatigue, Pancreat... |
ORPHA:537 |
| Bronchial Neuroendocrine Tumor |
|
Increased serum serotonin, Increased circulating cortisol level, Increased circulating ACTH level... |
ORPHA:97287 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Leukopenia, Macrocytic anemia, Neutro... |
OMIM:613990 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Decreased proportion of memory B cells, Reduced natural killer cell count, Perianal abscess, Iron... |
OMIM:301074 |
| Camptobrachydactyly |
|
Septate vagina |
OMIM:114150 |
| Waardenburg Syndrome, Type 1 |
|
Premature graying of hair, Thick eyebrow, White forelock, Aplasia of the vagina, White eyebrow, W... |
OMIM:193500 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Increased variability in muscle fiber diameter, Generalized amyotrophy, Muscle fiber atrophy, Spi... |
OMIM:616866 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Woolly hair |
OMIM:611528 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Fine hair, Nail dysplasia, Aplasia/Hypoplasia of the eyebrow, Short stature, Sparse hair, Hypospa... |
OMIM:614091 |
| Trichorhinophalangeal Syndrome, Type Iii |
|
Short stature, Sparse hair, Sparse lateral eyebrow, Fine hair |
OMIM:190351 |
| Craniopharyngioma |
|
Increased circulating prolactin concentration, Hypopituitarism, Hypogonadism, Obesity, Central ad... |
ORPHA:54595 |
| Pallister-Hall Syndrome |
|
Small scrotum, Hydrometrocolpos, Hypopituitarism, Central adrenal insufficiency, Cryptorchidism, ... |
ORPHA:672 |
| Distal Deletion 12Q |
|
Annular pancreas, Maturity-onset diabetes of the young, Pituitary adenoma, Failure to thrive in i... |
ORPHA:96149 |
| Ulnar-Mammary Syndrome |
|
Ectopic posterior pituitary, Imperforate hymen, Small scrotum, Axillary apocrine gland hypoplasia... |
OMIM:181450 |
| Meckel Syndrome 12 |
|
Vaginal atresia, Intrauterine growth retardation, Hypoplasia of the uterus |
OMIM:616258 |
| Proteus Syndrome |
|
Long penis, Thymus hyperplasia, Diabetes insipidus, Neoplasm of the thymus, Enlarged polycystic o... |
ORPHA:744 |
| Nephronophthisis 4 |
|
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubul... |
OMIM:606966 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Neonatal hyperbilirubinemia, Downturned corners of mouth, Deep philtrum, Thin vermilion border, W... |
ORPHA:163956 |
| Amelogenesis Imperfecta, Type Ig |
|
Nephrocalcinosis, Renal insufficiency, Impaired renal concentrating ability, Overgrowth, Amelogen... |
OMIM:204690 |
| Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Synophrys, Coarse hair, Curly hair |
OMIM:616351 |
| 8P23.1 Microdeletion Syndrome |
|
Growth delay, Intrauterine growth retardation, Obesity, Cryptorchidism, Weight loss, Short statur... |
ORPHA:251071 |
| Hallermann-Streiff Syndrome |
|
Alopecia, Sparse eyebrow, Sparse body hair, Cryptorchidism, Sparse eyelashes, Proportionate short... |
ORPHA:2108 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia, Spherocytosis, Splenomegaly |
ORPHA:66518 |
| Immune-Mediated Necrotizing Myopathy |
|
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Chest pain, Neoplasm, Myalgia, ... |
ORPHA:206569 |
| Kearns-Sayre Syndrome |
|
Skeletal muscle atrophy, Anterior hypopituitarism, Ragged-red muscle fibers |
ORPHA:480 |
| Gm1 Gangliosidosis |
|
Failure to thrive, Abnormal scrotum morphology, Hirsutism, Generalized hirsutism, Weight loss, Sh... |
ORPHA:354 |
| Enamel-Renal Syndrome |
|
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Abnormal dental enamel morpho... |
ORPHA:1031 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Increased circulating IgG4 level, Abnormality of the extraocular muscles, Myositis, Increased cir... |
ORPHA:79078 |
| Kearns-Sayre Syndrome |
|
Sideroblastic anemia, Primary adrenal insufficiency, Ragged-red muscle fibers, Hypoparathyroidism... |
OMIM:530000 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Postnatal growth retardation, Intrauterine growth retardation, Hypospadias, Brittle hair |
OMIM:619184 |
| Ivic Syndrome |
|
Leukocytosis, Hypoplasia of deltoid muscle, Small thenar eminence, Thrombocytopenia, Pectoralis m... |
OMIM:147750 |
| Trichorhinophalangeal Syndrome, Type I |
|
Sparse lateral eyebrow, Fine hair, Thin eyebrow, Leukonychia, Concave nail, Slow-growing hair, Th... |
OMIM:190350 |
| Creatine Phosphokinase, Elevated Serum |
|
Muscular dystrophy, Myalgia, Inflammatory myopathy, Myopathy, Elevated circulating creatine kinas... |
OMIM:123320 |
| Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Synophrys, Sparse eyebrow, Sparse hair, Curly hair |
OMIM:620075 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Precocious puberty, Alopecia, Short stature, Growth delay |
OMIM:163200 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Hepatosplenomegaly, Decreased circulating antibody level, Leukocytosis, Facial capillary hemangio... |
OMIM:274000 |
| Frontonasal Dysplasia 2 |
|
Sparse eyebrow, Fine hair, Bilateral cryptorchidism, Alopecia totalis, Intrauterine growth retard... |
OMIM:613451 |
| Perlman Syndrome |
|
Renal hamartoma, Hypoglycemia, Nephroblastomatosis, Nephrogenic rest, Large for gestational age, ... |
OMIM:267000 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Precocious puberty, Cholelithiasis, Hypoglycemia, Umbilical hernia, Hepatosplenomegaly, Obesity, ... |
OMIM:301066 |
| Rodrigues Blindness |
|
Short stature, Sparse hair, Fine hair |
OMIM:268320 |
| Noonan Syndrome 14 |
|
Sparse eyebrow, Cryptorchidism, Low posterior hairline, Curly hair, Short stature, Sparse hair |
OMIM:619745 |
| Sclerosing Cholangitis, Neonatal |
|
Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Asci... |
OMIM:617394 |
| Dyskeratosis Congenita, X-Linked |
|
Bone marrow hypocellularity, Pancytopenia, Leukopenia, Oropharyngeal squamous cell carcinoma, Hod... |
OMIM:305000 |
| Genitopatellar Syndrome |
|
Small scrotum, Clitoral hypertrophy, Fine hair, Cryptorchidism, Short stature, Sparse scalp hair |
ORPHA:85201 |
| Spinocerebellar Ataxia 28 |
|
Abnormal activity of mitochondrial respiratory chain, Ragged-red muscle fibers, Lower limb hypert... |
OMIM:610246 |
| Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Lipoma, Splenomegaly, Nephroblastoma |
OMIM:612918 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Fine hair, Decreased testicular size, External genital hypoplasia, Postnatal growth retardation, ... |
ORPHA:251028 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Ell... |
OMIM:300835 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Highly arched eyebrow, High anterior hairline, Coarse hair, Failure to thrive, Sparse lateral eye... |
OMIM:617506 |
| Reynolds Syndrome |
|
Biliary cirrhosis, Elevated circulating hepatic transaminase concentration, Cholestasis, Lymphope... |
OMIM:613471 |
| Hennekam Syndrome |
|
Camptodactyly of finger, Ascites, Lymphopenia, Decreased circulating antibody level, Benign neopl... |
ORPHA:2136 |
| Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Leukonychia, Woolly hair, Nail dystrophy, Fragile nails |
OMIM:615821 |
| X-Linked Centronuclear Myopathy |
|
Centrally nucleated skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, ... |
ORPHA:596 |
| Degcags Syndrome |
|
Retrognathia, Long philtrum, Micrognathia, Hyperbilirubinemia, Protruding tongue, Smooth philtrum... |
OMIM:619488 |
| Teratoma, Pineal |
|
Teratoma, Polydipsia, Polyuria |
OMIM:273120 |
| Von Willebrand Disease |
|
Abnormality of thrombocytes, Microcytic anemia, Muscle hemorrhage, Thrombocytopenia, Abnormal pla... |
ORPHA:903 |
| Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Highly arched eyebrow, Failure to thrive, Fine hair, Postnatal growth retardation, Cryptorchidism... |
OMIM:613563 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Uterus didelphys, Septate vagina, Absent gallbladder, Neonatal death, Low posterior hairline, Mic... |
OMIM:617925 |
| Lethal Congenital Contracture Syndrome 5 |
|
Centrally nucleated skeletal muscle fibers, Congenital contracture, Elevated circulating creatine... |
OMIM:615368 |
| Diamond-Blackfan Anemia 21 |
|
Obesity, Erythroid hypoplasia, Thrombocytopenia, Anemia, Osteosarcoma |
OMIM:620072 |
| Fontaine Progeroid Syndrome |
|
Small scrotum, Small nail, Cryptorchidism, Neonatal death, Low posterior hairline, Hypoplastic la... |
OMIM:612289 |
| Nicolaides-Baraitser Syndrome |
|
Dry hair, Failure to thrive, Sparse medial eyebrow, Hypertrichosis, Long eyelashes, Intrauterine ... |
OMIM:601358 |
| Mirizzi Syndrome |
|
Hyperbilirubinemia |
ORPHA:521219 |
| Trichohepatoneurodevelopmental Syndrome |
|
Cholelithiasis, Thoracic hypertrichosis, Coarse hair, Long eyelashes, Decreased body weight, Hypo... |
OMIM:618268 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Increased circula... |
OMIM:194380 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Inguinal hernia, Abnormality of the endocrine system, Abnormality of the lymphatic system, Thromb... |
ORPHA:487796 |
| Oculo-Palato-Cerebral Syndrome |
|
High, narrow palate, Cleft palate, Retinal detachment, Remnants of the hyaloid vascular system |
ORPHA:2714 |
| Neurooculorenal Syndrome |
|
Broad philtrum, Micrognathia, Conjugated hyperbilirubinemia, Recurrent hypoglycemia |
OMIM:620305 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hyperkalemia, Conjugated hyperbilirubinemia |
OMIM:608885 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Decreased circulating iron concentration, Glycosuria, Unconjugated hyperbilirubinemia, Asthenia, ... |
ORPHA:447 |
| Dubowitz Syndrome |
|
Sparse lateral eyebrow, Fine hair, Abnormal female external genitalia morphology, Postnatal growt... |
ORPHA:235 |
| Meningioma |
|
Neoplasm of the skin, Increased circulating prolactin concentration, Difficulty walking, Neoplasm... |
ORPHA:2495 |
| Thymic Carcinoma |
|
Neoplasm of the thymus, Weight loss |
ORPHA:99868 |
| Non-Functioning Paraganglioma |
|
Weight loss, Paraganglioma, Paraganglioma of head and neck |
ORPHA:94080 |
| Jacobsen Syndrome |
|
Flexion contracture, Annular pancreas, Failure to thrive, Thrombocytopenia |
OMIM:147791 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, ... |
OMIM:616959 |
| X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Dry hair, Nail dystrophy, Brittle hair, Short stature, Growth delay |
ORPHA:93947 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormal blood inorganic cation concentration, Elevated circulating hepatic transaminase concentr... |
ORPHA:309854 |
| Acute Liver Failure |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Hypoglycemia, Hepatocellular ... |
ORPHA:90062 |
| Odontoonychodermal Dysplasia |
|
Sparse eyebrow, Dry hair, Short nail, Dystrophic toenail, Fine hair, Sparse body hair, Ridged nai... |
OMIM:257980 |
| Myhre Syndrome |
|
Abnormal penis morphology, Precocious puberty, Severe short stature, Hypogonadism, External genit... |
ORPHA:2588 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Loose anagen hair, Failure to thrive, Large for gestational age, Long eyelashes, Cryptorchidism, ... |
OMIM:607721 |
| Cerebellar-Facial-Dental Syndrome |
|
Severe short stature, Sparse eyebrow, Infancy onset short-trunk short stature, Failure to thrive,... |
ORPHA:444072 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Increased RBC distribution width, Absence of alpha granules, Thrombocytopenia, Macrothrombocytope... |
OMIM:187900 |
| Immune Thrombocytopenia |
|
Thrombocytopenia |
ORPHA:3002 |
| Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Sparse hair, Absent nipple, Brittle hair, Absent hair |
OMIM:614940 |
| Bullous Pemphigoid |
|
Weight loss, Diabetes mellitus |
ORPHA:703 |
| Gaisböck Syndrome |
|
Nephrocalcinosis, Hypernatriuria, Obesity, Cholecystitis, Hypercholesterolemia, Hypertriglyceride... |
ORPHA:90041 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocyto... |
OMIM:616084 |
| Thrombocytopenia 2 |
|
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia |
OMIM:188000 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Failure to thrive, Fine hair, Sparse eyelashes, Short stature, Sparse hair |
OMIM:257850 |
| Senior-Loken Syndrome 3 |
|
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyu... |
OMIM:606995 |
| Trisomy 20P |
|
Highly arched eyebrow, Coarse hair, Thick eyebrow, Cryptorchidism, Low anterior hairline, Low pos... |
ORPHA:261318 |
| Ehlers-Danlos Syndrome, Classic-Like, 1 |
|
Atrophic scars, Increased connective tissue, Hiatus hernia, Proximal amyotrophy, Arthralgia, Musc... |
OMIM:606408 |
| Noonan Syndrome |
|
Coarse hair, Delayed menarche, Postnatal growth retardation, Cryptorchidism, Low posterior hairli... |
ORPHA:648 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Nephropathy, Obesity, Streak ovary, Renal insufficiency, Nephroblastoma, Gonadoblastoma, Hypospadias |
OMIM:194072 |
| Erythrokeratodermia Variabilis Et Progressiva 7 |
|
Woolly hair, Dystrophic toenail |
OMIM:619209 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Short stature, Postnatal growth retardation, Thick eyebrow, Fine hair |
OMIM:614800 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Highly arched eyebrow, Intrauterine growth retardation, Thick eyebrow, Low posterior hairline, Cu... |
OMIM:617360 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Precocious puberty, Obesity, Abnormality of neuronal migration |
ORPHA:163681 |
| Familial Mediterranean Fever |
|
Chest pain, Myalgia, Leukocytosis, Splenomegaly, Episodic abdominal pain, Peritonitis, Arthralgia... |
OMIM:249100 |
| Woodhouse-Sakati Syndrome |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased response to growth horm... |
ORPHA:3464 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Failure to thrive, Brittle hair |
OMIM:236200 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Skeletal muscle atrophy, Decreased activity of mitochondrial complex IV, Ragged-red muscle fibers... |
OMIM:616239 |
| Pachyonychia Congenita 2 |
|
Sparse eyebrow, Dry hair, Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Sparse scalp ... |
OMIM:167210 |
| Ablepharon Macrostomia Syndrome |
|
Fine hair, Abnormal female external genitalia morphology, Breast hypoplasia, Absent eyelashes, Ab... |
ORPHA:920 |
| Focal Myositis |
|
Weight loss |
ORPHA:48918 |
| Apolipoprotein C-Ii Deficiency |
|
Increased circulating chylomicron concentration, Splenomegaly, Pancreatitis, Hypercholesterolemia... |
OMIM:207750 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Precocious puberty, Moderate albuminuria, Type I diabetes mellitus, Dentinogenesis imperfecta, Ob... |
OMIM:619269 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Decreased muscle glycogen content, Decreased muscle mass, Upper limb muscle weakness, Increased m... |
ORPHA:263297 |
| Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Central core regions in muscle fibers, Muscular dystrophy |
OMIM:159050 |
| Mucopolysaccharidosis, Type Iiic |
|
Hirsutism, Hypertrichosis, Coarse hair, Synophrys |
OMIM:252930 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Cholelithiasis, Weight loss |
ORPHA:65682 |
| Myopathy, Myofibrillar, 4 |
|
Myofibrillar myopathy, EMG: myopathic abnormalities, Elevated circulating creatine kinase concent... |
OMIM:609452 |
| Secondary Short Bowel Syndrome |
|
Central hypothyroidism, Failure to thrive, Primary hypothyroidism, Weight loss, Growth delay |
ORPHA:95427 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Weight loss,... |
ORPHA:424 |
| Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Intrauterine growth retardation, Sparse hair, Cryptorchidism, Fine hair |
OMIM:614438 |
| Perry Syndrome |
|
Weight loss |
ORPHA:178509 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Hepatomegaly, Decreased hemoglobin concentration, Thrombocytopenia, Decreased body weight |
OMIM:619005 |
| Holoprosencephaly 2 |
|
Bifid uvula, Chorioretinal coloboma, Median cleft palate, Malar flattening, Submucous cleft hard ... |
OMIM:157170 |
| Diamond-Blackfan Anemia 1 |
|
Basal cell carcinoma, Increased mean corpuscular volume, Failure to thrive, Persistence of hemogl... |
OMIM:105650 |
| Carpenter Syndrome 1 |
|
Precocious puberty, External genital hypoplasia, Obesity, Cryptorchidism, Short stature |
OMIM:201000 |
| Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Short stature, Coarse hair |
ORPHA:1185 |
| Pseudomyxoma Peritonei |
|
Weight loss |
ORPHA:26790 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Distal amyotrophy, Muscle fiber atrophy, Cyanosis, Frontalis muscle weakness, Distal lower limb m... |
ORPHA:98914 |
| Congenital Myasthenic Syndrome |
|
Distal amyotrophy, Muscle fiber atrophy, Cyanosis, Frontalis muscle weakness, Distal lower limb m... |
ORPHA:590 |
| Glycogen Storage Disease Ic |
|
Hypoglycemia, Cyclic neutropenia, Xanthelasma, Chronic pancreatitis, Hyperlipidemia, Hyperuricemi... |
OMIM:232240 |
| Senior-Loken Syndrome 1 |
|
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal insufficiency, Impaired renal... |
OMIM:266900 |
| Mucopolysaccharidosis, Type Iiib |
|
Hirsutism, Coarse hair, Synophrys |
OMIM:252920 |
| Huntington Disease-Like 1 |
|
Weight loss |
ORPHA:157941 |
| Basilicata-Akhtar Syndrome |
|
Precocious puberty |
OMIM:301032 |
| Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
|
Thrombocytopenia, Hypochromic microcytic anemia, Increased circulating ferritin concentration |
ORPHA:3240 |
| Fanconi Anemia, Complementation Group B |
|
Aplastic anemia, Hypogonadism, Thrombocytopenia, Patent ductus arteriosus, Hypergonadotropic hypo... |
OMIM:300514 |
| Von Willebrand Disease, Type 3 |
|
Thrombocytopenia, Impaired platelet aggregation |
OMIM:277480 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypoalbuminemia, Hypoglycemia, Hypocalcemia, Unconjugated hyperbilirubinemia, High palate |
OMIM:613658 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Varicocele, Hashimoto thyroiditis, Weight loss, Retrograde ejaculation, Hydrocele testis, Impotence |
ORPHA:49041 |
| Trichothiodystrophy |
|
Aplasia/Hypoplasia of the nails, Gonadal dysgenesis, Tiger tail banding, Intrauterine growth reta... |
ORPHA:33364 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Abnormal mitochondrial shape, Cyanosis |
OMIM:610773 |
| Recon Progeroid Syndrome |
|
Anemia, Skeletal muscle atrophy, Thrombocytopenia |
OMIM:620370 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Sparse eyebrow, Dry hair, Sparse eyelashes, Nail dysplasia, Pili torti, Brittle hair, Progressive... |
OMIM:225060 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Conjugated hyperbilirubinemia, Retinal degeneration |
OMIM:208500 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Weight loss, Abnormal testis morphology |
ORPHA:54251 |
| Hermansky-Pudlak Syndrome 5 |
|
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia |
OMIM:614074 |
| Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Fine hair |
ORPHA:3236 |
| Hyperlipoproteinemia, Type I |
|
Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid... |
OMIM:238600 |
| Cartilage-Hair Hypoplasia |
|
Sparse eyebrow, Absent pubertal growth spurt, Neonatal short-limb short stature, Fair hair, Fine ... |
OMIM:250250 |
| Mucopolysaccharidosis, Type Iiia |
|
Hirsutism, Coarse hair, Synophrys |
OMIM:252900 |
| Hallermann-Streiff Syndrome |
|
Sparse eyebrow, Fine hair, Cryptorchidism, Sparse eyelashes, Proportionate short stature, Sparse ... |
OMIM:234100 |
| Persistent Hyperplastic Primary Vitreous |
|
Hyaloid vascular remnant and retrolental mass, Tractional retinal detachment, Remnants of the hya... |
ORPHA:91495 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Muscle fibe... |
OMIM:615422 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... |
OMIM:208540 |
| Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Lower limb muscle weakness, Angulated muscle fibers, Quadriceps muscle atrophy, Intrinsic hand mu... |
OMIM:620285 |
| Immunodeficiency 17 |
|
Abnormal B cell morphology, Failure to thrive, Decreased proportion of CD8-positive T cells, Chro... |
OMIM:615607 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
High nonceruloplasmin-bound serum copper, Limb hypertonia, Thrombocytopenia |
ORPHA:457351 |
| Microphthalmia, Syndromic 2 |
|
Adrenal insufficiency, Septate vagina, Thick eyebrow, Cryptorchidism, Laterally curved eyebrow, D... |
OMIM:300166 |
| Intellectual Disability, Buenos-Aires Type |
|
Short stature, Hyperconvex thumb nails, Abnormal fingernail morphology, Fine hair |
ORPHA:3079 |
| Cap Myopathy |
|
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Abnormal muscle fiber... |
ORPHA:171881 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Exerc... |
OMIM:616812 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Sparse eyebrow, Absent nipple, Fine hair, Sparse body hair, Concave nail, Sparse eyelashes, Absen... |
OMIM:305100 |
| Quebec Platelet Disorder |
|
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
| Cockayne Syndrome B |
|
Severe short stature, Dry hair, Failure to thrive, Abnormal hair morphology, Postnatal growth ret... |
OMIM:133540 |
| Neuroendocrine Tumor Of The Colon |
|
Increased serum serotonin, Weight loss, Carcinoid tumor, Atypical pulmonary carcinoid tumor |
ORPHA:100080 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Muscular dystrophy, Absent muscle fiber merosin, Muscle fiber atrophy, Decreased body weight, Inc... |
ORPHA:258 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Short stature, Abnormal fingernail morphology, Sparse hair, Fine hair |
ORPHA:1806 |
| Catastrophic Antiphospholipid Syndrome |
|
Microangiopathic hemolytic anemia, Gangrene, Arthralgia, Coombs-positive hemolytic anemia, Thromb... |
ORPHA:464343 |
| Amyotrophic Lateral Sclerosis 20 |
|
Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy |
OMIM:615426 |
| Hermansky-Pudlak Syndrome |
|
Menometrorrhagia, Long eyelashes, Weight loss, Hypopigmentation of hair |
ORPHA:79430 |
| Cerebrofaciothoracic Dysplasia |
|
Coarse hair, Thick eyebrow, Low posterior hairline, Abnormal hair pattern, Short stature, Synophrys |
ORPHA:1394 |
| Noonan Syndrome 1 |
|
Hypogonadism, Failure to thrive in infancy, Postnatal growth retardation, Cryptorchidism, Low pos... |
OMIM:163950 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Hyperbilirubinemia |
ORPHA:562639 |
| Benign Samaritan Congenital Myopathy |
|
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers |
ORPHA:324581 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Fine hair, Premature graying of hair, Postnatal growth retardation, Intrauterine growth retardati... |
OMIM:612199 |
| Cardiofaciocutaneous Syndrome 1 |
|
Failure to thrive, Absent eyelashes, Low posterior hairline, Absent eyebrow, Slow-growing hair, C... |
OMIM:115150 |
| Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
| Familial Colorectal Cancer Type X |
|
Uterine neoplasm, Pituitary adenoma, Pancreatic adenocarcinoma, Neoplasm of the thyroid gland, We... |
ORPHA:440437 |
| Marshall-Smith Syndrome |
|
Highly arched eyebrow, Failure to thrive, Bilateral cryptorchidism, Hypertrichosis, Thick eyebrow... |
OMIM:602535 |
| Cornelia De Lange Syndrome 1 |
|
Elbow flexion contracture, Inguinal hernia, Congenital diaphragmatic hernia, Hiatus hernia, Throm... |
OMIM:122470 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Generalized hirsutism, Coarse hair, Short stature, Low anterior hairline |
ORPHA:2095 |
| Chand Syndrome |
|
Nail dysplasia, Curly hair |
OMIM:214350 |
| Takayasu Arteritis |
|
Weight loss |
ORPHA:3287 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Medullary nephrocalcinosis, Hypercalciuria, Polyuria, Increased circulating renin level |
OMIM:300971 |
| Overhydrated Hereditary Stomatocytosis |
|
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... |
ORPHA:3203 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Short stature, Intrauterine growth retardation, Weight loss, Cryptorchidism |
OMIM:301310 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Precocious puberty, Neonatal insulin-dependent diabetes mellitus, Hypoplastic fingernail, Postnat... |
ORPHA:96191 |
| Sarcoidosis, Susceptibility To, 1 |
|
Chest pain, Pancytopenia, Abnormality of T cell physiology, Splenomegaly, Increased circulating a... |
OMIM:181000 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Conjugated hyperbilirubinemia |
ORPHA:168577 |
| Aicardi-Goutieres Syndrome 9 |
|
Failure to thrive, Intrauterine growth retardation, Hypothyroidism, Weight loss, Micropenis |
OMIM:619487 |
| Opitz-Kaveggia Syndrome |
|
Fine hair, Frontal upsweep of hair, Cryptorchidism, Short stature, Gray matter heterotopia, Spars... |
OMIM:305450 |
| Jacobsen Syndrome |
|
Bone marrow hypocellularity, Annular pancreas, Inguinal hernia, Thrombocytopenia |
ORPHA:2308 |
| Keppen-Lubinsky Syndrome |
|
Failure to thrive, Generalized lipodystrophy, Absence of subcutaneous fat, Lack of facial subcuta... |
OMIM:614098 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Splenomegaly, Hepatomegaly, Dec... |
OMIM:612301 |
| Eec Syndrome |
|
Sparse eyebrow, Coarse hair, Fine hair, Decreased response to growth hormone stimulation test, Th... |
ORPHA:1896 |
| Combined Oxidative Phosphorylation Deficiency 58 |
|
Hypoglycemia, Decreased activity of mitochondrial complex IV, Ragged-red muscle fibers, Hyperprol... |
OMIM:620451 |
| Pallister-Hall Syndrome |
|
Precocious puberty, Growth delay, Decreased response to growth hormone stimulation test, Decrease... |
OMIM:146510 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Inflammation of the large intestine, Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatos... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Inflammation of the large intestine, Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatos... |
ORPHA:99228 |
| Monosomy X |
|
Inflammation of the large intestine, Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatos... |
ORPHA:99226 |
| Turner Syndrome |
|
Inflammation of the large intestine, Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatos... |
ORPHA:881 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss |
ORPHA:312 |
| Mucopolysaccharidosis, Type Vii |
|
Severe short stature, Coarse hair, Postnatal growth retardation, Thick eyebrow, Hirsutism, Short ... |
OMIM:253220 |
| Nestor-Guillermo Progeria Syndrome |
|
Flexion contracture, Lipoatrophy, Failure to thrive, Decreased serum leptin |
OMIM:614008 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Exerc... |
OMIM:607459 |
| Olmsted Syndrome 2 |
|
Alopecia universalis, Sparse hair, Woolly hair |
OMIM:619208 |
| Ivic Syndrome |
|
Leukocytosis, Thrombocytopenia |
ORPHA:2307 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Vaginal atresia, Hypoplastic labia majora, Fused labia minora |
OMIM:207410 |
| Mucolipidosis Type Ii |
|
Dry hair, Fine hair, White hair, Postnatal growth retardation, Weight loss, Short stature |
ORPHA:576 |
| Familial Gestational Hyperthyroidism |
|
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Weight loss,... |
ORPHA:99819 |
| Pemphigus Vulgaris |
|
Weight loss, Alopecia of scalp |
ORPHA:704 |
| Cerebellofaciodental Syndrome |
|
Short stature, Sparse eyebrow, Cryptorchidism, Fine hair |
OMIM:616202 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Nephrocalcinosis, Polyuria |
OMIM:620152 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Atypical scarring of skin, Widened atrophic scar, Decreased muscle mass, Umbilical hernia, Elbow ... |
ORPHA:1900 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Precocious puberty, Frontal balding, Cryptorchidism, Aplasia/Hypoplasia of the gallbladder, Micro... |
ORPHA:96092 |
| Neuroendocrine Tumor Of The Rectum |
|
Increased serum serotonin, Weight loss, Carcinoid tumor, Atypical pulmonary carcinoid tumor |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Increased serum serotonin, Weight loss, Carcinoid tumor, Atypical pulmonary carcinoid tumor |
ORPHA:100082 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Precocious puberty, High anterior hairline, Horizontal eyebrow, Failure to thrive, Sparse lateral... |
OMIM:619950 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Aplastic anemia, Congenital thrombocytopenia, Amegakaryocytic thrombocytopenia |
OMIM:605432 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Dry hair, Coarse hair, Shawl scrotum, Short stature, Hypopigmentation of hair, Widow's peak |
ORPHA:1974 |
| Acquired Central Diabetes Insipidus |
|
Weight loss, Diabetes insipidus |
ORPHA:95626 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Vaginal atresia, Cryptorchidism |
ORPHA:3301 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Hypogonadotropic hypogonadism, Facial palsy, Skeletal muscle atrophy, Abnormal muscle fiber morph... |
ORPHA:3068 |
| Chronic Beryllium Disease |
|
Weight loss |
ORPHA:133 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Acute hepatic steatosis, Hepatitis, Cholestasis, Obesity, Hepatic steatosis, Hypercholesterolemia... |
ORPHA:209902 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Uterine neoplasm, Failure to thrive, Vaginal neoplasm, Abnormality of the female genitalia, Weigh... |
ORPHA:1018 |
| Cryohydrocytosis |
|
Pseudohyperkalemia, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia |
OMIM:185020 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Woolly hair |
OMIM:607450 |
| 16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Thrombocytopenia |
ORPHA:261250 |
| Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Precocious puberty, Rectovaginal fistula, Thick eyebrow |
OMIM:608980 |
| Erdheim-Chester Disease |
|
Hypogonadotropic hypogonadism, Weight loss, Diabetes insipidus |
ORPHA:35687 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Sparse eyebrow, Abnormal cortical gyration, Disproportionate short stature, Failure to thrive, Fi... |
OMIM:210710 |
| Osteosarcoma |
|
Weight loss |
ORPHA:668 |
| Hajdu-Cheney Syndrome |
|
Coarse hair, Failure to thrive, Abnormal fingernail morphology, Thick eyebrow, Low anterior hairl... |
ORPHA:955 |
| Kaposi Sarcoma |
|
Weight loss |
ORPHA:33276 |
| Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Abnormal mitochondrial shape, Failure to thrive |
ORPHA:543470 |
| Holocarboxylase Synthetase Deficiency |
|
Hyperammonemia, Thrombocytopenia |
OMIM:253270 |
| Lateral Meningocele Syndrome |
|
Short stature, Coarse hair, Cryptorchidism |
OMIM:130720 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Progressive distal muscular atrophy, Peroneal muscle atrophy, Scapular muscle atrophy, Amyoplasia... |
OMIM:181405 |
| Weaver Syndrome |
|
Fine hair, Cryptorchidism, Thin nail, Deep-set nails, Sparse hair, Hydrocele testis |
OMIM:277590 |
| Beemer-Ertbruggen Syndrome |
|
Thrombocytopenia |
ORPHA:1237 |
| Multiple Sulfatase Deficiency |
|
Short stature, Coarse hair, Thick eyebrow |
ORPHA:585 |
| Marfan Syndrome |
|
Slender build, Cachexia |
ORPHA:558 |
| Stickler Syndrome |
|
Short stature, Slender build, Cachexia |
ORPHA:828 |
| Craniolenticulosutural Dysplasia |
|
Coarse hair, Cryptorchidism, Brittle hair, Short stature, Sparse hair |
OMIM:607812 |
| Popliteal Pterygium Syndrome |
|
Small scrotum, Bifid scrotum, Cryptorchidism, Pyramidal skinfold extending from the base to the t... |
OMIM:119500 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Nemaline bodies, Joint contracture of the hand, Increased endomysial connective tissue, Skeletal ... |
OMIM:620278 |
| Orofaciodigital Syndrome I |
|
Alopecia, Dry hair, Abnormal cortical gyration, Pancreatic cysts, Ovarian cyst, Gray matter heter... |
OMIM:311200 |
| Phakomatosis Pigmentokeratotica |
|
Precocious puberty, Patchy alopecia, Pheochromocytoma, Cryptorchidism |
ORPHA:2874 |
| Osteogenesis Imperfecta |
|
Dentinogenesis imperfecta, Exercise intolerance, Small for gestational age, Umbilical hernia, Abn... |
ORPHA:666 |
| Naxos Disease |
|
Sparse eyebrow, Subungual hyperkeratosis, Sparse body hair, Nail dystrophy, Onycholysis, Curly ha... |
OMIM:601214 |
| Adams-Oliver Syndrome 1 |
|
Imperforate hymen, Alopecia, Small nail, Polymicrogyria, Supernumerary nipple, Pachygyria |
OMIM:100300 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Acanthocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Poikilocytosis |
OMIM:300367 |
| Williams-Beuren Syndrome |
|
Obsessive-compulsive trait, Chronic constipation, Gastroesophageal reflux, Failure to thrive in i... |
OMIM:194050 |
| Argininosuccinic Aciduria |
|
Trichorrhexis nodosa, Dry hair, Failure to thrive, Brittle hair |
OMIM:207900 |
| Kabuki Syndrome |
|
Precocious puberty, Highly arched eyebrow, Failure to thrive, Sparse lateral eyebrow, Obesity, Lo... |
ORPHA:2322 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Sparse eyebrow, Coarse hair, Dystrophic toenail, Supernumerary nipple, Hyperconvex fingernails, S... |
ORPHA:1071 |
| Thymoma |
|
Weight loss, Prostate neoplasm, Neoplasm of the thyroid gland |
ORPHA:99867 |
| Systemic Lupus Erythematosus |
|
Leukopenia, Malaise, Fatigue, Weight loss, Lymphadenopathy, Thrombocytopenia, Hemolytic anemia |
ORPHA:536 |
| Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Curly hair |
OMIM:256850 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the uterus, Abnormal hair whorl, Aplasia of the vagina |
ORPHA:457284 |
| Parathyroid Carcinoma |
|
Elevated circulating parathyroid hormone level, Parathyroid carcinoma, Pancreatic adenocarcinoma,... |
ORPHA:143 |
| Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
| Liposarcoma |
|
Weight loss |
ORPHA:69078 |
| Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Coarse hair, Chronic monilial nail infection, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:158310 |
| Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Weight loss, Diabetes mellitus, Ovarian carcinoma |
ORPHA:1333 |
| Senior-Boichis Syndrome |
|
Increased total bilirubin |
ORPHA:84081 |
| Manitoba Oculotrichoanal Syndrome |
|
Vaginal atresia, Abnormality of the hairline |
OMIM:248450 |
| Tropical Pancreatitis |
|
Insulin-dependent but ketosis-resistant diabetes, Pancreatic adenocarcinoma, Pancreatic calcifica... |
ORPHA:103918 |
| Ppoma |
|
Cholelithiasis, Intestinal carcinoid, Pituitary adenoma, Increased circulating cortisol level, In... |
ORPHA:97278 |
| Oculodentodigital Dysplasia |
|
Fine hair, Abnormal fingernail morphology, Curly hair, Slow-growing hair, Brittle hair, Sparse ha... |
ORPHA:2710 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Elevated circulating acylcarnitine concentration, Exercise intolerance, Muscle fiber atrophy, Mya... |
ORPHA:228302 |
| Currarino Syndrome |
|
Septate vagina, Rectovaginal fistula, Bicornuate uterus |
OMIM:176450 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Weight loss |
ORPHA:103910 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hypoalbuminemia, Increased circulating ferritin concentration, Elevated circulating creatinine co... |
OMIM:619534 |
| Giant Cell Arteritis |
|
Alopecia, Weight loss, Diabetes insipidus |
ORPHA:397 |
| Woolly Hair-Skin Fragility Syndrome |
|
Woolly hair |
OMIM:620415 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Weight loss |
ORPHA:411703 |
| Onychotrichodysplasia And Neutropenia |
|
Sparse pubic hair, Hypoplastic fingernail, Trichorrhexis nodosa, Curly eyelashes, Concave nail, C... |
OMIM:258360 |
| Neuroendocrine Tumor Of Stomach |
|
Increased serum serotonin, Increased circulating ACTH level, Atypical pulmonary carcinoid tumor, ... |
ORPHA:100075 |
| Myhre Syndrome |
|
Fine hair, Obesity, Thick eyebrow, Intrauterine growth retardation, Cryptorchidism, Birth length ... |
OMIM:139210 |
| Dystonia-Aphonia Syndrome |
|
Abnormal mitochondrial shape, Macroglossia |
ORPHA:412217 |
| Polyarteritis Nodosa |
|
Weight loss |
ORPHA:767 |
| Malignant Peritoneal Mesothelioma |
|
Weight loss |
ORPHA:168811 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Weight loss |
ORPHA:216866 |
| Noonan Syndrome 10 |
|
Short stature, Sparse eyebrow, Cryptorchidism, Curly hair |
OMIM:616564 |
| Leptospirosis |
|
Hepatitis, Myalgia, Rhabdomyolysis, Elevated serum transaminases during infections, Abdominal pai... |
ORPHA:509 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Retinal nonattachment, Iris coloboma, Remnants of the hyaloid vascular system |
OMIM:221900 |
| Fraser Syndrome 1 |
|
Clitoral hypertrophy, Abnormal cortical gyration, Small nail, Extension of hair growth on temples... |
OMIM:219000 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Bilateral cryptorchidism, Hydrometrocolpos, Thick eyebrow, Alopecia of scalp, Mild postnatal grow... |
OMIM:150230 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Weight loss, Paraganglioma of head and n... |
ORPHA:276621 |
| Al Amyloidosis |
|
Abnormal salivary gland morphology, Weight loss, Autonomic erectile dysfunction |
ORPHA:85443 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Weight loss, Paraganglioma of head and n... |
ORPHA:29072 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Increased serum serotonin, Weight loss, Carcinoid tumor, Neuroendocrine neoplasm |
ORPHA:100085 |
| Roberts Syndrome |
|
Knee flexion contracture, Midface capillary hemangioma, Wrist flexion contracture, Progressive fl... |
ORPHA:3103 |
| Craniolenticulosutural Dysplasia |
|
Short stature, Sparse hair, Coarse hair, Brittle hair |
ORPHA:50814 |
| Chondrodysplasia Punctata, Autosomal Dominant |
|
Sparse hair, Moderate postnatal growth retardation, Coarse hair |
OMIM:118650 |
| Mucopolysaccharidosis, Type Iiid |
|
Coarse hair, Facial hirsutism, Thick eyebrow, Hirsutism, Short stature, Synophrys |
OMIM:252940 |
| Cranioectodermal Dysplasia 3 |
|
Rhizomelia, Short nail, Fine hair, Broad nail, Short stature, Sparse hair |
OMIM:614099 |
| Grfoma |
|
Cholelithiasis, Intestinal carcinoid, Pituitary adenoma, Increased circulating cortisol level, In... |
ORPHA:97261 |
| Mucolipidosis Ii Alpha/Beta |
|
Sparse eyebrow, Failure to thrive, Severe postnatal growth retardation, Brittle hair, Sparse hair... |
OMIM:252500 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Vaginal atresia, Nail dysplasia, Short stature, Hydrometrocolpos |
OMIM:617088 |
| Chand Syndrome |
|
Imperforate hymen, Nail dysplasia, Curly hair |
ORPHA:1401 |
| Pulmonary Alveolar Microlithiasis |
|
Decreased fertility, Gonadal calcification, Testicular microlithiasis, Weight loss |
ORPHA:60025 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Increased variability in muscle fiber diameter, Exercise intolerance, Skeletal muscle atrophy, Li... |
OMIM:157640 |
| Mowat-Wilson Syndrome |
|
Webbed penis, Horizontal eyebrow, Growth delay, Bifid scrotum, Polymicrogyria, Septate vagina, Pe... |
ORPHA:2152 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Precocious puberty, Long eyelashes, Hypospadias, Rhizomelia |
OMIM:615877 |
| Neuromuscular Oculoauditory Syndrome |
|
Knee flexion contracture, Elevated circulating creatine kinase concentration, Wrist flexion contr... |
OMIM:618733 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina |
OMIM:271520 |
| Thrombocytopenia 6 |
|
Thrombocytopenia |
OMIM:616937 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Sparse hair, Highly arched eyebrow, Sparse lateral eyebrow, Fine hair, Large for gestational age,... |
OMIM:280000 |
| Fibular Hemimelia |
|
Impairment of activities of daily living, Pain, Thrombocytopenia |
ORPHA:93323 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, D... |
OMIM:174000 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Cholelithiasis, Coarse hair, Failure to thrive, Pancreatic hypoplasia, Postnatal growth retardati... |
ORPHA:83617 |
| Apert Syndrome |
|
Vaginal atresia, Rhizomelic arm shortening, Cryptorchidism |
OMIM:101200 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Muscular dystrophy, Increased endomysial connective tissue, Elevated circulating aspartate aminot... |
OMIM:613154 |
| Revesz Syndrome |
|
Ridged fingernail, Fine hair, Intrauterine growth retardation, Nail dystrophy, Sparse hair, Nail ... |
OMIM:268130 |
| Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Abnormal mitochondrial shape |
ORPHA:485421 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Thrombocytopenia |
ORPHA:3320 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Centrally nucleated skeletal muscle fibers, Foot dorsiflexor weakness, Night sweats, Intrinsic ha... |
OMIM:619574 |
| Thrombocytopenia 1 |
|
Decreased mean platelet volume, Increased circulating IgE level, Increased circulating IgA level,... |
OMIM:313900 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Hypoalbuminemia, Thrombocytopenia, Normochromic anemia |
OMIM:254900 |
| Aicardi Syndrome |
|
Precocious puberty, Sparse lateral eyebrow, Pachygyria, Polymicrogyria, Postnatal growth retardat... |
OMIM:304050 |
| Oculopharyngodistal Myopathy 1 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Autophagic va... |
OMIM:164310 |
| Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Dry hair, Hypothyroidism, Low anterior hairline |
OMIM:618569 |
| Zttk Syndrome |
|
Unilateral renal agenesis, Failure to thrive, Horseshoe kidney, Absent gallbladder, Polyuria, Fle... |
OMIM:617140 |
| Pierson Syndrome |
|
Retinal detachment, Remnants of the hyaloid vascular system, Retinal hemorrhage, Posterior lentic... |
OMIM:609049 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Precocious puberty, Alopecia, Fair hair, Decreased response to growth hormone stimulation test, S... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Precocious puberty, Alopecia, Fair hair, Decreased response to growth hormone stimulation test, S... |
ORPHA:363958 |
| Yao Syndrome |
|
Weight loss |
OMIM:617321 |
| Perry Syndrome |
|
Weight loss |
OMIM:168605 |
| Vocal Cord And Pharyngeal Distal Myopathy |
|
Rimmed vacuoles, Shoulder girdle muscle weakness, Mildly elevated creatine kinase, Distal upper l... |
ORPHA:600 |
| Nephroblastoma |
|
Weight loss |
ORPHA:654 |
| Alport Syndrome 1, X-Linked |
|
Hypoparathyroidism, Diffuse leiomyomatosis, Thrombocytopenia |
OMIM:301050 |
| Amyotrophic Lateral Sclerosis 21 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... |
OMIM:606070 |
| Eosinophilic Gastroenteritis |
|
Weight loss |
ORPHA:2070 |
| Loeffler Endocarditis |
|
Weight loss |
ORPHA:75566 |
| Scalp-Ear-Nipple Syndrome |
|
Sparse pubic hair, Fine hair, Breast aplasia, Sparse axillary hair, Patchy alopecia, Nail dysplas... |
OMIM:181270 |
| Witteveen-Kolk Syndrome |
|
High anterior hairline, Growth delay, Male urethral meatus stenosis, Microphallus, Decreased resp... |
OMIM:613406 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Woolly hair |
OMIM:610193 |
| Galloway-Mowat Syndrome 9 |
|
Coarse hair |
OMIM:619603 |
| Choreoacanthocytosis |
|
Peroneal muscle atrophy, Distal amyotrophy, Elevated circulating aspartate aminotransferase conce... |
ORPHA:2388 |
| Wild Type Attr Amyloidosis |
|
Weight loss |
ORPHA:330001 |
| Tuberous Sclerosis 1 |
|
Precocious puberty, Preauricular hair displacement, Subungual fibromas, Hypothyroidism, Adenoma s... |
OMIM:191100 |
| Igg4-Related Aortitis |
|
Weight loss |
ORPHA:449400 |
| Congenital Tufting Enteropathy |
|
Weight loss, Failure to thrive |
ORPHA:92050 |
| Wolf-Hirschhorn Syndrome |
|
Precocious puberty, Highly arched eyebrow, Growth delay, Failure to thrive, Hyperconvex fingernai... |
OMIM:194190 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Imperforate hymen, Hematocolpos, Growth delay, Intrauterine growth retardation, Cryptorchidism, H... |
OMIM:619522 |
| Oromandibular Dystonia |
|
Weight loss |
ORPHA:93958 |
| Neuroocular Syndrome 1 |
|
Short uvula, Downturned corners of mouth, Retrognathia, Widely spaced teeth, Ankyloglossia, Submu... |
OMIM:619539 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Webbed penis, Failure to thrive, Bifid scrotum, Polymicrogyria, Septate vagina, Periventricular h... |
ORPHA:261537 |
| Coffin-Siris Syndrome 1 |
|
Clitoral hypertrophy, Facial hypertrichosis, Dry hair, Hypertrichosis, Postnatal growth retardati... |
OMIM:135900 |
| Glucagonoma |
|
Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr... |
ORPHA:97280 |
| Glucose-Galactose Malabsorption |
|
Weight loss, Failure to thrive |
ORPHA:35710 |
| Primary Intestinal Lymphangiectasia |
|
Weight loss, Growth delay |
ORPHA:90362 |
| Early Infantile Epileptic Encephalopathy |
|
Precocious puberty, Failure to thrive, Pachygyria, Micropenis, Absent thumbnail |
ORPHA:1934 |
| Neuroblastoma, Susceptibility To, 1 |
|
Weight loss, Failure to thrive |
OMIM:256700 |
| Acromelic Frontonasal Dysostosis |
|
Cleft upper lip, Submucous cleft soft palate, Remnants of the hyaloid vascular system, U-Shaped u... |
OMIM:603671 |
| Fatal Familial Insomnia |
|
Weight loss |
OMIM:600072 |
| Fraser Syndrome |
|
Small scrotum, Abnormal vagina morphology, Female pseudohermaphroditism, Cryptorchidism, Abnormal... |
ORPHA:2052 |
| Ménétrier Disease |
|
Weight loss |
ORPHA:2494 |
| Aicardi Syndrome |
|
Precocious puberty, Sparse lateral eyebrow, Polymicrogyria, Delayed puberty, Pachygyria |
ORPHA:50 |
| Rheumatoid Arthritis |
|
Weight loss |
OMIM:180300 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Neonatal alloimmune thrombocytopenia |
ORPHA:853 |
| African Trypanosomiasis |
|
Alopecia, Abnormality of the menstrual cycle, Abnormality of circulating cortisol level, Weight l... |
ORPHA:3385 |
| Lynch Syndrome |
|
Pituitary adenoma, Pancreatic adenocarcinoma, Endometrial carcinoma, Neoplasm of the thyroid glan... |
ORPHA:144 |
| Danon Disease |
|
Skeletal muscle autophagosome accumulation, Exercise intolerance, Myocardial necrosis, Limb muscl... |
OMIM:300257 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Weight loss |
ORPHA:324964 |
| Oculodentodigital Dysplasia |
|
Dry hair, Fine hair, Slow-growing hair, Sparse hair, Fragile nails |
OMIM:164200 |
| Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
| Coffin-Lowry Syndrome |
|
Highly arched eyebrow, Coarse hair, Hyperconvex fingernails, Thick eyebrow, Uterine prolapse, Dec... |
OMIM:303600 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Curly hair |
ORPHA:85184 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Webbed penis, Highly arched eyebrow, Failure to thrive, Bifid scrotum, Polymicrogyria, Septate va... |
ORPHA:261552 |
| Pneumocystosis |
|
Weight loss |
ORPHA:723 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Hyperparathyroidism, Nephrocalcinosis, Decreased renal tubular phosphate excretion, Increased ren... |
OMIM:211900 |
| Focal Dermal Hypoplasia |
|
Supernumerary nipple, Ridged nail, Absent toenail, Nail dystrophy, Cryptorchidism, Nail dysplasia... |
OMIM:305600 |
| Refractory Celiac Disease |
|
Weight loss |
ORPHA:398063 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Precocious puberty, Obesity, Hypoparathyroidism |
ORPHA:369837 |
| Lethal Congenital Contracture Syndrome 9 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Joint... |
OMIM:616503 |
| Native American Myopathy |
|
Congenital contracture, Skeletal muscle atrophy, Muscle fiber atrophy, Facial hemangioma, Camptod... |
ORPHA:168572 |
| Peters-Plus Syndrome |
|
Facial hypertrichosis, Rhizomelia, Disproportionate short-limb short stature, Postnatal growth re... |
OMIM:261540 |
| Noonan Syndrome 2 |
|
Sparse eyebrow, Cryptorchidism, Low posterior hairline, Curly hair, Short stature |
OMIM:605275 |
| Melnick-Needles Syndrome |
|
Frontal hirsutism, Coarse hair, Failure to thrive, Stillbirth |
OMIM:309350 |
| Tetraamelia Syndrome 1 |
|
Vaginal atresia, Absent external genitalia, Adrenal gland agenesis, Hypoplasia of the fallopian tube |
OMIM:273395 |
| Carney-Stratakis Syndrome |
|
Weight loss, Paraganglioma |
ORPHA:97286 |
| Mucopolysaccharidosis Type 3 |
|
Coarse hair, Hirsutism, Generalized hirsutism, Thick hair, Synophrys |
ORPHA:581 |
| Lymphoid Interstitial Pneumonia |
|
Weight loss, Failure to thrive |
ORPHA:79128 |
| Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Increased body weight |
ORPHA:64745 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Weight loss |
ORPHA:183 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Centrally nucleated skeletal muscle fibers, Myopathy |
OMIM:300219 |
| Pyomyositis |
|
Testicular teratoma, Weight loss |
ORPHA:764 |
| Thrombocytopenia 3 |
|
Decreased mean platelet volume, Thrombocytopenia |
OMIM:273900 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Small pituitary gland, Thoracic hypertrichosis, High anterior hairline, Horizontal eyebrow, Failu... |
OMIM:619503 |
| Thrombocytopenia 10 |
|
Decreased mean platelet volume, Thrombocytopenia |
OMIM:620484 |
| Renpenning Syndrome 1 |
|
Sparse lateral eyebrow, Decreased testicular size, Phimosis, Brittle hair, Short stature, Sparse ... |
OMIM:309500 |
| Osteootohepatoenteric Syndrome |
|
Weight loss, Failure to thrive |
OMIM:619377 |
| Granulomatosis With Polyangiitis |
|
Prostatitis, Weight loss, Abnormality of the hypothalamus-pituitary axis, Diabetes insipidus |
ORPHA:900 |
| Tropical Endomyocardial Fibrosis |
|
Cachexia |
ORPHA:75565 |
| Tolchin-Le Caignec Syndrome |
|
Precocious puberty, Thick eyebrow, Hirsutism |
OMIM:618971 |
| Juvenile Dermatomyositis |
|
Alopecia, Weight loss |
ORPHA:93672 |
| Costello Syndrome |
|
Failure to thrive, Concave nail, Deep-set nails, Thin nail, Curly hair, Short stature, Sparse hai... |
OMIM:218040 |
| Alveolar Echinococcosis |
|
Pancreatic cysts, Weight loss, Abnormal adrenal morphology |
ORPHA:284 |
| Myoglobinuria, Recurrent |
|
Ragged-red muscle fibers |
OMIM:550500 |
| Tay-Sachs Disease |
|
Precocious puberty |
ORPHA:845 |
| Glossopharyngeal Neuralgia |
|
Weight loss |
ORPHA:221098 |
| Igg4-Related Kidney Disease |
|
Sialadenitis, Prostatitis, Weight loss, Abnormality of the anterior pituitary, Thyroiditis |
ORPHA:449395 |
| Cranioectodermal Dysplasia 1 |
|
Rhizomelia, Short nail, Fine hair, Slow-growing hair, Thin nail, Sparse hair |
OMIM:218330 |
| Gerstmann-Straussler Disease |
|
Weight loss |
OMIM:137440 |
| Ileal Neuroendocrine Tumor |
|
Increased serum serotonin, Small intestine carcinoid, Weight loss |
ORPHA:100078 |
| Tuberous Sclerosis 2 |
|
Precocious puberty, Subungual fibromas, Hypothyroidism, Adenoma sebaceum |
OMIM:613254 |
| Orofaciodigital Syndrome Type 1 |
|
Sparse hair, Alopecia, Coarse hair, Brittle hair, Pancreatic cysts |
ORPHA:2750 |
| Cockayne Syndrome Type 3 |
|
Dry hair, Mild postnatal growth retardation, Premature graying of hair |
ORPHA:90324 |
| Chronic Graft Versus Host Disease |
|
Alopecia, Abnormal vagina morphology, Nail dystrophy, Phimosis, Onycholysis, Weight loss |
ORPHA:99921 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Precocious puberty, Nail dysplasia, Sparse hair, Cryptorchidism |
OMIM:616682 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Abnormal cortical gyration, Hypertrichosis, Hypoplastic nipples, Delayed puberty, Curly hair, Sho... |
ORPHA:480880 |
| Reactive Arthritis |
|
Dystrophic fingernails, Weight loss, Abnormality of the nail |
ORPHA:29207 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Weight loss |
ORPHA:747 |
| Gallbladder Neuroendocrine Tumor |
|
Weight loss, Neuroendocrine neoplasm |
ORPHA:100086 |
| Klatskin Tumor |
|
Weight loss |
ORPHA:99978 |
| Pallister-Killian Syndrome |
|
Small scrotum, Sparse eyebrow, Alopecia, Rhizomelia, Growth delay, Supernumerary nipple, Sparse a... |
OMIM:601803 |
| Postinfectious Vasculitis |
|
Weight loss, Orchitis |
ORPHA:48435 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Sparse eyebrow, Polymicrogyria, Failure to thrive in infancy, Intrauterine growth retardation, Br... |
ORPHA:500150 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Weight loss |
ORPHA:67 |
| Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Increased variability in muscle fiber diameter, Ragged-red muscle fibers |
ORPHA:70595 |
| Pancreatoblastoma |
|
Pancreatic calcification, Weight loss |
ORPHA:677 |
| Neurofibromatosis Type 1 |
|
Precocious puberty, Pheochromocytoma, Cryptorchidism, Delayed puberty, Carcinoid tumor, Abnormal ... |
ORPHA:636 |
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Weight loss, Mild postnatal growth retardation |
ORPHA:85408 |
| Simple Cryoglobulinemia |
|
Weight loss |
ORPHA:91139 |
| Floating-Harbor Syndrome |
|
Precocious puberty, Varicocele, Growth delay, Cryptorchidism, Short stature, Epididymal cyst, Hyp... |
ORPHA:2044 |
| Malignant Atrophic Papulosis |
|
Weight loss |
ORPHA:679 |
| Riddle Syndrome |
|
Short stature, Weight loss |
ORPHA:420741 |
| Williams Syndrome |
|
Precocious puberty, Cholelithiasis, Failure to thrive in infancy, Abnormal fingernail morphology,... |
ORPHA:904 |
| Occipital Horn Syndrome |
|
Pili torti, Growth delay, Coarse hair |
OMIM:304150 |
| Behçet Disease |
|
Weight loss, Orchitis |
ORPHA:117 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
White hair, Fine hair |
ORPHA:935 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Abnormality of hair texture, Growth delay |
ORPHA:667 |
| Full Nf2-Related Schwannomatosis |
|
Remnants of the hyaloid vascular system |
ORPHA:637 |
| Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Abnormality of hair texture, Thick eyebrow, Hypoplastic sweat glands, Synophrys |
ORPHA:73223 |
| Hereditary Late-Onset Parkinson Disease |
|
Weight loss |
ORPHA:411602 |
| Malt Lymphoma |
|
Weight loss, Abnormality of the thyroid gland |
ORPHA:52417 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Weight loss, Growth delay |
ORPHA:309031 |
| Chime Syndrome |
|
Sparse hair, Fine hair |
ORPHA:3474 |
| Rat-Bite Fever |
|
Weight loss, Parotitis |
ORPHA:31205 |
| Granulomatosis With Polyangiitis |
|
Weight loss |
OMIM:608710 |
| Vascular Ehlers-Danlos Syndrome |
|
Alopecia, Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Short stature, Aplasia/Hy... |
ORPHA:286 |
| Sponastrime Dysplasia |
|
Precocious puberty, Rhizomelia, Disproportionate short-limb short stature, Intrauterine growth re... |
ORPHA:93357 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Renal phosphate wasting, Abnormality of renal excretion, Hyperphosphaturia, Enthesitis |
ORPHA:289176 |
| Dermatomyositis |
|
Alopecia, Weight loss, Abnormality of the nail, Abnormal hair quantity |
ORPHA:221 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Sparse eyebrow, Fine hair, Nail dystrophy, Sparse eyelashes, Onycholysis, Sparse scalp hair |
OMIM:614748 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Weight loss, Failure to thrive |
ORPHA:2020 |
| Early-Onset Autosomal Dominant Alzheimer Disease |
|
Deposits immunoreactive to beta-amyloid protein |
ORPHA:1020 |
| Nocardiosis |
|
Abnormality of the adrenal glands, Weight loss, Thyroiditis |
ORPHA:31204 |
| 17Q11 Microdeletion Syndrome |
|
Precocious puberty, Elevated circulating parathyroid hormone level, Pheochromocytoma, Intrauterin... |
ORPHA:97685 |
| Primary Fanconi Renotubular Syndrome |
|
Weight loss, Growth delay |
ORPHA:3337 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Weight loss |
ORPHA:91500 |
| Singleton-Merten Syndrome 1 |
|
Cardiomegaly, Tendon rupture, Muscle fiber atrophy, Decreased body weight |
OMIM:182250 |
| Goodpasture Syndrome |
|
Weight loss |
OMIM:233450 |
