| Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Truncal obesity, Insulin resistance, Delayed puberty, Decreased serum insulin-like growth factor 1 |
ORPHA:140941 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... |
ORPHA:79085 |
| Moynahan Syndrome |
|
Alopecia, Short stature, Cachexia, Hypogonadism, Sparse hair |
ORPHA:2574 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:435660 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:435651 |
| Crigler-Najjar Syndrome Type 2 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79235 |
| Multiple Symmetric Lipomatosis |
|
Hepatomegaly, Insulin resistance, Multiple lipomas, Gait disturbance, Abnormal adipose tissue mor... |
ORPHA:2398 |
| Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
| Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Abnormality of the kidney, Maternal diabetes, Maturity-onset diabetes ... |
ORPHA:99886 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... |
OMIM:615238 |
| Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:617297 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Elevated hepatic transaminase, Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Obesity, Hy... |
ORPHA:329249 |
| Dentin Dysplasia, Type I |
|
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... |
OMIM:125400 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
|
Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta |
OMIM:613211 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride... |
OMIM:608600 |
| Type 2 Diabetes Mellitus |
|
Increased waist to hip ratio, Insulin resistance, Type II diabetes mellitus |
OMIM:125853 |
| Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
| Amelogenesis Imperfecta |
|
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
OMIM:604367 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... |
OMIM:204700 |
| Mody |
|
Abnormality of the kidney, Large for gestational age, Overweight, Transient neonatal diabetes mel... |
ORPHA:552 |
| Otodental Dysplasia |
|
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Coloboma, Pulp calcification, T... |
OMIM:166750 |
| Amelogenesis Imperfecta, Type Iiib |
|
Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617607 |
| Jaundice, Familial Obstructive, Of Infancy |
|
Neonatal hyperbilirubinemia |
OMIM:308600 |
| Crigler-Najjar Syndrome, Type Ii |
|
Unconjugated hyperbilirubinemia |
OMIM:606785 |
| Hyperbilirubinemia, Conjugated, Type Iii |
|
Conjugated hyperbilirubinemia |
OMIM:237550 |
| Hyperbilirubinemia, Transient Familial Neonatal |
|
Neonatal unconjugated hyperbilirubinemia |
OMIM:237900 |
| Dentin Dysplasia, Type Ii |
|
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp |
OMIM:125420 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617217 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Hepatic steat... |
ORPHA:79084 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Mahvash Disease |
|
Recurrent pancreatitis, Type II diabetes mellitus, Pancreatic alpha-cell hyperplasia, Increased g... |
OMIM:619290 |
| Hypercholanemia, Familial, 2 |
|
Increased serum bile acid concentration, Unconjugated hyperbilirubinemia |
OMIM:619256 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Reduced subcutaneous adipose tissue, ... |
ORPHA:280365 |
| Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:104530 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Chronic fatigue, Hypersplenism, Splenomegaly, Thrombocytopenia, Bone pain, Hypochol... |
OMIM:610539 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Cyanosis, Hypothermia, Oligur... |
ORPHA:159 |
| Type 1 Diabetes Mellitus |
|
Polydipsia, Diabetes mellitus, Polyuria, Hyperglycemia, Polyphagia |
OMIM:222100 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
| Glutathione Peroxidase Deficiency |
|
Neonatal hyperbilirubinemia |
OMIM:614164 |
| Edinburgh Malformation Syndrome |
|
U-Shaped upper lip vermilion, Neonatal hyperbilirubinemia |
OMIM:129850 |
| Cortisone Reductase Deficiency 1 |
|
Alopecia, Precocious puberty, Obesity, Infertility, Oligomenorrhea, Hirsutism |
OMIM:604931 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... |
OMIM:615559 |
| Morbid Obesity And Spermatogenic Failure |
|
Hypertriglyceridemia, Insulin resistance, Obesity, Type II diabetes mellitus, Hypercholesterolemi... |
OMIM:615703 |
| Idiopathic Congenital Hypothyroidism |
|
Hypothermia, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactiv... |
ORPHA:95717 |
| Amelogenesis Imperfecta, Type Iiia |
|
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta |
OMIM:130900 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Hyperbilirubinemia |
OMIM:618660 |
| Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... |
OMIM:125500 |
| Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia |
OMIM:237450 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Hypertriglyc... |
OMIM:612526 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Reduced i... |
ORPHA:363400 |
| Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Abnormal circulating bilirubin concentration, Increased serum bile acid concentration |
OMIM:619874 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se... |
OMIM:617885 |
| Gcgr-Related Hyperglucagonemia |
|
Neoplasm of the pancreas, Diabetes mellitus, Abnormal biliary tract morphology, Stomatitis, Chole... |
ORPHA:438274 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Diabetes Mellitus, Ketosis-Prone |
|
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus |
OMIM:612227 |
| Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
| Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition |
OMIM:114700 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Hyperglycemia, Hypergonadotropic hypogonadism, Male hypogonadism |
OMIM:307500 |
| Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
OMIM:237500 |
| Acquired Partial Lipodystrophy |
|
Lipoatrophy, Insulin resistance, Myopathy, Arthralgia, Lymphocytosis, Hepatic steatosis |
ORPHA:79087 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... |
ORPHA:171706 |
| Crigler-Najjar Syndrome, Type I |
|
Unconjugated hyperbilirubinemia |
OMIM:218800 |
| Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... |
OMIM:616221 |
| Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... |
OMIM:619924 |
| Riboflavin Deficiency |
|
Lethargy, Dicarboxylic aciduria, Hypoglycemia, Hypothermia |
OMIM:615026 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,... |
OMIM:262190 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... |
OMIM:612529 |
| Cortisone Reductase Deficiency 2 |
|
Insulin resistance, Obesity, Premature pubarche |
OMIM:614662 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Polyphagia, Type II di... |
ORPHA:71529 |
| Amelogenesis Imperfecta, Type Iiic |
|
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... |
OMIM:618386 |
| Primary Condylar Hyperplasia |
|
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma... |
ORPHA:477781 |
| Dental Ankylosis |
|
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology |
ORPHA:1077 |
| Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Hyperglycemia, Flexion contracture |
OMIM:618856 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
|
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:614832 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia, Lipodystrophy, Lipoatrophy, Insulin-resistant diabetes mellitus, Insulin re... |
OMIM:613877 |
| Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Hy... |
ORPHA:95716 |
| Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Crowded maxillary incisors, Multiple unerupted teeth, Stillbirth, Micrognathia |
OMIM:183300 |
| 2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Lethargy, Hypoglycemia, Hypothermia, 2-ethylhydracylic aciduria |
OMIM:610006 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Conjugated hyperbilirubinemia, Increased serum bile acid concentration, Hyperbilirubinemia |
OMIM:620010 |
| Immunodeficiency 24 |
|
Decreased circulating IgG level, Lymphoproliferative disorder, Decreased CD4:CD8 ratio, Decreased... |
OMIM:615897 |
| Renal Hypoplasia, Bilateral |
|
Small for gestational age, Proteinuria, Microscopic hematuria, Chronic kidney disease, Renal hypo... |
ORPHA:97362 |
| Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
| Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:616270 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypogl... |
ORPHA:324575 |
| Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2 |
|
Amelogenesis imperfecta |
OMIM:301201 |
| Amelogenesis Imperfecta, Type Ib |
|
Amelogenesis imperfecta |
OMIM:104500 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:615887 |
| Cleft Palate, Isolated |
|
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite |
OMIM:119540 |
| Familial Renal Glucosuria |
|
Recurrent urinary tract infections, Insulin resistance, Abnormal circulating insulin concentratio... |
ORPHA:69076 |
| Maturity-Onset Diabetes Of The Young, Type 11 |
|
Overweight, Obesity, Maturity-onset diabetes of the young |
OMIM:613375 |
| Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Unsteady gait, Type II diabetes mellitus |
OMIM:520000 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Hypothermia, Large for gestational age, Elevated circulating thyroid-stimulating hormone concentr... |
ORPHA:226313 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia... |
ORPHA:71526 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... |
OMIM:256450 |
| Amelogenesis Imperfecta, Type Ie |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... |
OMIM:301200 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Diabetes mellitus, Lipodystrophy, Insulin resistance, Hyperlipidemia, Abdominal obesity, Hepatic ... |
OMIM:615980 |
| Amelogenesis Imperfecta, Type Iv |
|
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth |
OMIM:104510 |
| Rotor Syndrome |
|
Conjugated hyperbilirubinemia, Hyperbilirubinemia |
ORPHA:3111 |
| Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Fasting hypoglycemia, Hyper... |
ORPHA:2298 |
| Crandall Syndrome |
|
Alopecia, Brittle hair, Hypoplasia of penis, Fine hair, Hypogonadism, Pili torti, Abnormal testis... |
ORPHA:202 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... |
OMIM:601820 |
| Crigler-Najjar Syndrome Type 1 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79234 |
| Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Pigmentary retinopathy, Neonatal hyperbilirubinemia, Retinal degeneration, Abnormality of the den... |
ORPHA:3363 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... |
OMIM:615954 |
| Diencephalic Syndrome |
|
Abnormality of the hypothalamus-pituitary axis, Long penis, Cachexia, Decreased body weight |
ORPHA:1672 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Reduced subcutane... |
OMIM:151660 |
| Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Ketonuria, Small for gestational age, Athetosis, Glycosuria, Type I diabetes mellitus, Hyperglycemia |
OMIM:618857 |
| Essential Fructosuria |
|
Abnormal urine carbohydrate level, Hyperglycemia |
ORPHA:2056 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... |
OMIM:616452 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
| Zollinger-Ellison Syndrome |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Elevated circulating... |
ORPHA:913 |
| Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Angiofibromas, Fasting hyperinsulinemi... |
ORPHA:276152 |
| Renpenning Syndrome |
|
Abnormal hairshaft morphology, Alopecia, Severe short stature, Diabetes mellitus, Hypospadias, Ca... |
ORPHA:3242 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Dysmenorrhea, Decreased serum estradiol, Decreased circulating androgen... |
ORPHA:90796 |
| Autoimmune Lymphoproliferative Syndrome |
|
Non-Hodgkin lymphoma, Increased circulating IgG level, Thyroid carcinoma, Lymphocytosis, Increase... |
ORPHA:3261 |
| Acute Monoblastic/Monocytic Leukemia |
|
Fever, Acute monocytic leukemia, Anorexia, Oliguria, Central hypothyroidism, Weight loss |
ORPHA:514 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Lipodystrophy, Elevated circulating C-reactive protein concentration, In... |
OMIM:618048 |
| Donohue Syndrome |
|
Precocious puberty, Adipose tissue loss, Long penis, Hyperinsulinemia, Cholestasis, Severe failur... |
OMIM:246200 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Insulin-resis... |
OMIM:608612 |
| Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Excessive insulin response to glucagon test, Maternal diabetes, Large for gestation... |
ORPHA:276580 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgE level, Lymphadenopathy, Increased proportion of memory T cells, Hepatos... |
OMIM:618982 |
| Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia, Ataxia |
OMIM:618970 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Hyperbilirubinemia |
OMIM:179700 |
| Mitochondrial Myopathy With Diabetes |
|
Exercise intolerance, Elevated circulating creatine kinase concentration, Facial palsy, Decreased... |
OMIM:500002 |
| 19Q13.11 Microdeletion Syndrome |
|
Bifid scrotum, Hypospadias, Supernumerary nipple, Cachexia, Cryptorchidism, Fine hair, Growth del... |
ORPHA:217346 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Lymphopenia, Hypertriglyceridemia, Lipodystrophy, My... |
OMIM:617591 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... |
OMIM:603909 |
| Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Diabetes mellitus, Lipodystrophy, Precocious puberty in females, Hypertriglyceridem... |
ORPHA:528 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia... |
ORPHA:276608 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
ORPHA:280356 |
| Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
| Sepsis In Premature Infants |
|
Fever, Hepatomegaly, Cyanosis, Small for gestational age, Splenomegaly, Jaundice, Diarrhea, Oligu... |
ORPHA:90051 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Elevated circulating C-reactive protein concentration, Squamous cell carcinoma, Prostate cancer, ... |
ORPHA:158057 |
| Otodental Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... |
ORPHA:2791 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Hypothermia, Elevate... |
OMIM:245400 |
| Mcdonough Syndrome |
|
Cryptorchidism, Synophrys, Short stature, Cachexia |
ORPHA:2471 |
| Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... |
ORPHA:2457 |
| Fanconi-Bickel Syndrome |
|
Hepatomegaly, Failure to thrive, Diabetes mellitus, Impaired glucose tolerance, Elevated circulat... |
ORPHA:2088 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:66628 |
| Niemann-Pick Disease, Type B |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cel... |
OMIM:607616 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Pancytopenia, Hemolytic anemia, Lymphoproliferative disorder, Autoimmune thrombocyt... |
OMIM:614470 |
| Amelogenesis Imperfecta, Type Ik |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:620104 |
| Adult Acute Respiratory Distress Syndrome |
|
Increased circulating interleukin 6 concentration, Pneumonia, Sepsis, Abnormal circulating interl... |
ORPHA:70578 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... |
OMIM:619868 |
| Mulibrey Nanism |
|
Intrauterine growth retardation, Short stature, Cachexia |
ORPHA:2576 |
| Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M... |
ORPHA:2972 |
| Witkop Syndrome |
|
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair |
OMIM:189500 |
| Bardet-Biedl Syndrome 9 |
|
Renal insufficiency, Polydipsia, Obesity, Truncal obesity, Hyperglycemia, Polyphagia |
OMIM:615986 |
| Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... |
ORPHA:49042 |
| Acute Lung Injury |
|
Acute pancreatitis, Increased circulating interleukin 6 concentration, Pneumonia, Elevated circul... |
ORPHA:178320 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:179494 |
| Alg12-Cdg |
|
Elevated hepatic transaminase, Hyponatremia, Decreased serum insulin-like growth factor 1, Partia... |
ORPHA:79324 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Diabet... |
OMIM:615381 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... |
ORPHA:976 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Excessive insulin response to glucagon test, Large for gestational age, Hyperinsuli... |
ORPHA:276575 |
| Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome |
|
Abnormality of hair texture, Growth delay, Sparse or absent eyelashes, Pili torti, Aplasia/Hypopl... |
ORPHA:2891 |
| Rapidly Involuting Congenital Hemangioma |
|
Lipoatrophy, Perineal hemangioma, Midfrontal capillary hemangioma, Hepatic hemangioma, Tufted ang... |
ORPHA:141184 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Tegumentary leishmaniasis susceptibility, Pneumonia, Lymphadenitis, Recurrent mycobacterial infec... |
ORPHA:319552 |
| Genetic Transient Congenital Hypothyroidism |
|
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... |
ORPHA:226316 |
| Tooth Agenesis, Selective, 9 |
|
Microdontia, Taurodontia, Selective tooth agenesis |
OMIM:617275 |
| Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia |
OMIM:143500 |
| Lassa Fever |
|
Fever, Jaundice, Diarrhea, Oliguria, Dysphagia |
ORPHA:99824 |
| Florid Cemento-Osseous Dysplasia |
|
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... |
ORPHA:83451 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Decreased circulating IgG level, Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemi... |
OMIM:308240 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Decreased circulating IgG level, Absent peripheral lymph nodes in presence of infection, Abnormal... |
ORPHA:98813 |
| Riboflavin Transporter Deficiency |
|
Cachexia, Hypogonadism, Diabetes insipidus |
ORPHA:97229 |
| Genetic Recurrent Myoglobinuria |
|
Elevated hepatic transaminase, Dark urine, Renal insufficiency, Fever, Recurrent myoglobinuria, E... |
ORPHA:99845 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ... |
OMIM:619802 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... |
OMIM:615513 |
| Malaria |
|
Hyperbilirubinemia, Elevated circulating C-reactive protein concentration |
ORPHA:673 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ... |
ORPHA:293964 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Absent pubic hair,... |
ORPHA:90793 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes, Abnormality of body m... |
OMIM:616329 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Calf muscle pseudohypertrophy, Hypert... |
ORPHA:79083 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipoatrophy, Li... |
ORPHA:2348 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Recurrent ... |
ORPHA:276556 |
| Silver-Russell Syndrome |
|
Abnormality of male external genitalia, Short stature, Hypospadias, Cachexia, Failure to thrive i... |
ORPHA:813 |
| Asherman Syndrome |
|
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... |
ORPHA:137686 |
| Failure Of Tooth Eruption, Primary |
|
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth |
OMIM:125350 |
| Hypotrichosis 4 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair |
OMIM:146550 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Hypothermia, Insulin resistance, Elevated urinary dopamine level, Hyperinsulinemia,... |
ORPHA:230 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Elevated hepatic transaminase, Ketonuria, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postp... |
ORPHA:2089 |
| Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
| Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Dyspareunia, Partial vaginal septum, Metrorrhagia, Abnormal uterine cervix morphology, Dysmenorrh... |
ORPHA:3411 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Impaired sensitivity to thyroid stimulating hormone, Hypothermia, Goiter, Elevated circulating th... |
ORPHA:90673 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... |
ORPHA:52901 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Hypercholesterolemia, Hypothermia, Goiter, Pituitary... |
ORPHA:90674 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu... |
ORPHA:226307 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia, Diabetes mellitus, Obesity |
OMIM:608320 |
| Systemic Capillary Leak Syndrome |
|
Renal insufficiency, Diarrhea, Oliguria, Weight loss, Multiple myeloma, Pancreatitis, Abnormal re... |
ORPHA:188 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Fever, Diabetes mellitus, Anuria, Nausea, Diarrhea, Secretory diarrhea, Oliguria, Bloody diarrhea... |
ORPHA:544482 |
| Familial Hyperprolactinemia |
|
Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea |
ORPHA:397685 |
| Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Astrocytoma, Insulin-resista... |
ORPHA:79086 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Increased circulati... |
OMIM:615285 |
| Blue Diaper Syndrome |
|
Elevated hepatic transaminase, Diarrhea, Elevated circulating thyroid-stimulating hormone concent... |
ORPHA:94086 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperglycemia, Gait disturbance, Hyperlipidemia |
OMIM:604484 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg... |
OMIM:613101 |
| Fused Mandibular Incisors |
|
Advanced eruption of teeth, Abnormality of the dentition |
ORPHA:2287 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia, Small for gestational age |
OMIM:618858 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Large for gestational age, Diarrhea, Hy... |
ORPHA:263455 |
| Leptin Deficiency Or Dysfunction |
|
Decreased serum leptin, Obesity, Hypogonadism, Micropenis, Polyphagia |
OMIM:614962 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Portal hypertension... |
OMIM:251880 |
| Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Short stature, Cachexia |
ORPHA:1144 |
| Mullerian Aplasia And Hyperandrogenism |
|
Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ... |
OMIM:158330 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Hepatomegaly, Decreased circulating total IgM, Lymphocytosis |
OMIM:606445 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Nonketotic hypoglycemia, Ketonur... |
ORPHA:20 |
| Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Fatigue, Pancytopenia, Abnormal macrophage morpholog... |
ORPHA:507 |
| Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Exercise intolerance, Elevated circulating creatine kinase concentration, Facial palsy, Decreased... |
OMIM:616209 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increased circulating ferritin concen... |
OMIM:603552 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased ser... |
ORPHA:465508 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Hyperglycemia, Hypergonadotropic hypogonadism, Obesity |
OMIM:619737 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus, Small for gestational age |
OMIM:606176 |
| Beta-Ketothiolase Deficiency |
|
Fever, Hepatomegaly, Ketonuria, Hypoglycemia, Ataxia, Anorexia, Diarrhea, Weight loss, Vomiting, ... |
ORPHA:134 |
| Ovarian Dysgenesis 2 |
|
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh... |
OMIM:300510 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature thelarche, Ambiguous genitalia, female, Premature... |
ORPHA:90795 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating IgG level, Hypergonadotropic h... |
OMIM:212065 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
| Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Soft tissue neoplasm, Recurrent hypoglycemia, Neoplasm, Prostate ... |
ORPHA:2126 |
| Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Diabetes mellitus, Small for gestational age, Increased circulating free T4 concentration, Elevat... |
OMIM:274300 |
| Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Exercise intolerance, Hypertriglyceridemia, Lipodyst... |
OMIM:613327 |
| Obesity And Hypopigmentation |
|
Hepatic steatosis, Hyperinsulinemia, Obesity, Overgrowth, Polyphagia |
OMIM:620195 |
| Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Secondary amenorrhea, Short stature, Hirsutism, Premature pubarche |
OMIM:612847 |
| Hyperbilirubinemia, Shunt, Primary |
|
Hyperbilirubinemia |
OMIM:237800 |
| Short Syndrome |
|
Inguinal hernia, Small for gestational age, Lipodystrophy, Lipoatrophy, Insulin resistance, Insul... |
OMIM:269880 |
| Hemorrhagic Fever-Renal Syndrome |
|
Elevated hepatic transaminase, Fever, Anuria, Proteinuria, Glomerulonephritis, Nausea, Hematemesi... |
ORPHA:340 |
| Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Fever, Peritonitis, Diarrhea, O... |
ORPHA:727 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Impaired glucose tolerance, Increased LDL cholesterol concentration, Glucos... |
OMIM:610947 |
| Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... |
OMIM:614723 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
| Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Sparse axillary hair, Elevated circulating ... |
ORPHA:99429 |
| Isolated Agammaglobulinemia |
|
Fatigue, Recurrent cutaneous abscess formation, Failure to thrive, Abnormality of the tonsils, Ab... |
ORPHA:229717 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Reduced subcutaneous adipose tissue, ... |
OMIM:248370 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Proximal muscle weakness in upper limbs, Elevated circulating creatine kinase concentration, Gast... |
ORPHA:276435 |
| Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Abnormal hair morphology, Precocious puberty, Long penis, Oligozoospermia, Macr... |
ORPHA:3000 |
| Necrotizing Enterocolitis |
|
Small for gestational age, Peritonitis, Diarrhea, Temperature instability, Bloody diarrhea, Vomit... |
ORPHA:391673 |
| X-Linked Agammaglobulinemia |
|
Fatigue, Recurrent cutaneous abscess formation, Abnormality of the tonsils, Thrombocytopenia, Abn... |
ORPHA:47 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Sparse axillary hair, Sparse pubic hair, Decreased circulating dih... |
OMIM:228300 |
| Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Decreased HDL cholesterol concentration, Adrenal calcification, Bone-marro... |
OMIM:278000 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614727 |
| Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Multiple joint contractures, Decreased mitochondrial number, Limb-girdle muscle weakness, Myopath... |
ORPHA:352470 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Lymphoproliferative disorder, B-cell lymphoma, Auto... |
OMIM:300853 |
| Gigantiform Cementoma, Familial |
|
Cementoma, Tooth malposition, Multiple impacted teeth |
OMIM:137575 |
| Autoinflammation With Infantile Enterocolitis |
|
Fatigue, Pancytopenia, Elevated circulating C-reactive protein concentration, Reduced natural kil... |
OMIM:616050 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... |
ORPHA:75564 |
| Ringed Hair Disease |
|
Abnormal hair pattern, Fine hair |
ORPHA:169 |
| Polyglucosan Body Myopathy 2 |
|
Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Elevated circu... |
OMIM:616199 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Decreased lymphocyte proliferati... |
OMIM:620282 |
| Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
| Greig Cephalopolysyndactyly Syndrome |
|
Inguinal hernia, Hypospadias, Camptodactyly of toe, Umbilical hernia, Hyperglycemia, Joint contra... |
OMIM:175700 |
| Mantle Cell Lymphoma |
|
Fatigue, B-cell lymphoma, Splenomegaly, Lymphadenopathy, Weight loss |
ORPHA:52416 |
| Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Hypothermia, Increased ci... |
ORPHA:26793 |
| Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
| Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Exercise intolerance, Proximal muscle weakness in upper limbs, Increased mitochondrial number, Ra... |
ORPHA:457050 |
| Erythrokeratodermia Variabilis |
|
Alopecia, Diabetes mellitus, Short stature, Abnormal hair morphology, Weight loss, Abnormality of... |
ORPHA:317 |
| Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
| Björnstad Syndrome |
|
Alopecia, Brittle hair, Hypogonadism |
ORPHA:123 |
| Cholestasis-Lymphedema Syndrome |
|
Fatigue, Hepatomegaly, Portal hypertension, Abdominal pain, Splenomegaly, Jaundice, Hyperlipidemi... |
ORPHA:1414 |
| Inclusion Body Myositis |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Abnormal muscle fibe... |
ORPHA:611 |
| 46,Xy Sex Reversal 1 |
|
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... |
OMIM:400044 |
| Jalili Syndrome |
|
Abnormality of retinal pigmentation, Abnormality of dental color, Abnormal dental enamel morpholo... |
ORPHA:1873 |
| Leydig Cell Hypoplasia |
|
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... |
ORPHA:755 |
| Macrophage Activation Syndrome |
|
Increased inflammatory response, Increased circulating interleukin 6 concentration, Hypertriglyce... |
ORPHA:158061 |
| Spontaneous Periodic Hypothermia |
|
Diarrhea, Ataxia, Hypothermia, Gait disturbance |
ORPHA:29822 |
| Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:125490 |
| Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
| Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
| Lujo Hemorrhagic Fever |
|
Elevated hepatic transaminase, Fever, Renal insufficiency, Fulminant hepatitis, Diarrhea, Oliguri... |
ORPHA:319213 |
| Uncombable Hair Syndrome 2 |
|
Uncombable hair, Pili canaliculi |
OMIM:617251 |
| Aggressive Systemic Mastocytosis |
|
Bone pain, Arthralgia, Neutropenia, Fatigue, Portal hypertension, Abdominal pain, Leukocytosis, H... |
ORPHA:98850 |
| Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Obesity, Oligomenorrhea, Hirsutism, Amenorrhea |
OMIM:184700 |
| Mehmo Syndrome |
|
Small for gestational age, Hypoglycemia, Decreased response to growth hormone stimulation test, A... |
OMIM:300148 |
| Werner Syndrome |
|
Renal neoplasm, Acral lentiginous melanoma, Lipodystrophy, Lipoatrophy, Insulin resistance, Breas... |
ORPHA:902 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Conjugated ... |
OMIM:607765 |
| Diffuse Cutaneous Systemic Sclerosis |
|
Renal insufficiency, Flexion contracture, Xerostomia, Oliguria, Gastroesophageal reflux, Dysphagia |
ORPHA:220393 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Fatigue, Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Weight loss, Acute ... |
ORPHA:3226 |
| Hypercalcemia, Infantile, 1 |
|
Polyuria, Decreased circulating parathyroid hormone level, Nephrolithiasis, Hypercalciuria, Weigh... |
OMIM:143880 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Increased total bilirubin |
OMIM:174050 |
| Bilateral Striopallidodentate Calcinosis |
|
Hepatomegaly, Abnormality of the liver, Thrombocytopenia |
ORPHA:1980 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hyperactivity, Small for gestational age, Hypoglycemia, Insulin resistance, Truncal obesity, Hypo... |
ORPHA:73272 |
| Flynn-Aird Syndrome |
|
Alopecia, Cachexia, Abnormality of the thyroid gland, Primary adrenal insufficiency, Type II diab... |
ORPHA:2047 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hepatomegaly, Hemolytic ... |
OMIM:308230 |
| Aredyld Syndrome |
|
Short stature, Cachexia, Type II diabetes mellitus, Type I diabetes mellitus, Intrauterine growth... |
ORPHA:1133 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Compulsive behavi... |
ORPHA:293987 |
| Cronkhite-Canada Syndrome |
|
Alopecia, Abnormal fingernail morphology, Cachexia, Hypoplastic toenails, Dystrophic toenail, Pat... |
ORPHA:2930 |
| Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, B-cell lym... |
OMIM:613011 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Posterior lenticonus, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma |
ORPHA:231736 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Cachexia, Weight loss |
OMIM:612075 |
| Roch-Leri Mesosomatous Lipomatosis |
|
Multiple lipomas, Thrombocytopenia |
ORPHA:529 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Lympho... |
ORPHA:331206 |
| Preeclampsia |
|
Elevated hepatic transaminase, Increased body mass index, Small for gestational age, Abdominal pa... |
ORPHA:275555 |
| Immune Thrombocytopenia |
|
Thrombocytopenia |
OMIM:188030 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Cachexia, Weight loss |
ORPHA:298 |
| Premature Ovarian Failure 7 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... |
OMIM:612964 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:613662 |
| Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia |
ORPHA:3196 |
| Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Precocious puberty, Fine hair, Woolly scalp hair, Co... |
ORPHA:79414 |
| Epidermolysis Bullosa, Junctional 4, Intermediate |
|
Carious teeth, Dental enamel pits |
OMIM:619787 |
| Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
| Premature Ovarian Failure 21 |
|
Streak ovary, Precocious puberty in females, Secondary amenorrhea, Primary amenorrhea, Decreased ... |
OMIM:620311 |
| Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Lymphopenia, Autoimmune thrombocytopenia, Splenomeg... |
OMIM:617514 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Lymphopenia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decrease... |
ORPHA:169154 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Polyphagia, Hyperinsulinemia, Obesity, Tall stature |
OMIM:618406 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Maturity-onset diabetes of the young, Exocrine pancreatic insufficiency |
OMIM:609812 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes |
OMIM:610582 |
| Felty Syndrome |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Lymphoma, Neutropenia, Weight loss, Lymphadenopathy... |
ORPHA:47612 |
| Temple Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Small for gestational age, ... |
ORPHA:254516 |
| Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ... |
OMIM:232700 |
| Timothy Syndrome |
|
Hypothyroidism, Hypoglycemia, Hypothermia |
OMIM:601005 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Lipodystrophy... |
OMIM:608594 |
| Primary Myelofibrosis |
|
Fatigue, Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Cachexia, Portal hypertension,... |
ORPHA:824 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... |
ORPHA:731 |
| Laryngeal Neuroendocrine Tumor |
|
Adrenocorticotropic hormone excess, Weight loss, Increased serum serotonin, Elevated circulating ... |
ORPHA:100083 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Truncal obesity, Abdominal obesity, Type II diabetes mellitus, Hypercholest... |
OMIM:615812 |
| Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity disorder, Polyphagia |
ORPHA:369873 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Hypoplasia of penis, Short stature, Abnormal hair pattern, Cachexia, Synophrys, Obesity, Hypogona... |
ORPHA:85293 |
| Gne Myopathy |
|
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Lower limb muscle weakness,... |
ORPHA:602 |
| Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Refractory anemia with ringed siderob... |
OMIM:133180 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy |
OMIM:619175 |
| Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
| Immunodeficiency 48 |
|
Hepatomegaly, Absence of CD8-positive T cells, Splenomegaly, Failure to thrive, Panhypogammaglobu... |
OMIM:269840 |
| Barth Syndrome |
|
Abnormal mitochondrial morphology, Abnormality of neutrophils |
ORPHA:111 |
| Post-Traumatic Pituitary Deficiency |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c... |
ORPHA:95619 |
| Overlap Myositis |
|
Elevated hepatic transaminase, Proximal muscle weakness in upper limbs, Diabetes mellitus, Elevat... |
ORPHA:206572 |
| Immunodeficiency 104 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, T lymphocytopenia, Failure to thrive secondary to re... |
OMIM:608971 |
| Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absent pubic hair, Decreased c... |
OMIM:614841 |
| Hijazi-Reis Syndrome |
|
Iris coloboma, Hyperbilirubinemia |
OMIM:301094 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
| Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
| Functioning Gonadotropic Adenoma |
|
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... |
ORPHA:91348 |
| Rabson-Mendenhall Syndrome |
|
Reduced subcutaneous adipose tissue, Increased pineal volume, Impaired glucose tolerance, Precoci... |
ORPHA:769 |
| Alexander Disease |
|
Diabetes mellitus, Ataxia, Bowel incontinence, Hypothermia, Precocious puberty, Self-injurious be... |
ORPHA:58 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Hypoglycemia, Hypothermia, 3-Methylglutaconic aciduria, Bile duct ... |
OMIM:618329 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Hepatomegaly, Ataxia, Polyuria, Diarrhea, Proximal tubulopathy, Vomiting, Type I diabetes mellitu... |
OMIM:560000 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hypospadias, Hypothermia, Aggressive b... |
ORPHA:17 |
| Ovarian Dysgenesis 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:619665 |
| Merrf |
|
Multiple lipomas, Ragged-red muscle fibers, Myopathy |
ORPHA:551 |
| Biliary Atresia, Extrahepatic |
|
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin |
OMIM:210500 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Acute hepatic failure, Elevated hepatic transaminase, Ketonuria, Hypoglycemia, Vomiting, Hypergly... |
OMIM:615453 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating IgG level, Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive... |
OMIM:619824 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Abnormal hair morphology, Weight loss, Premature graying of hair, Type I diabetes mellitus |
ORPHA:1979 |
| Pituicytoma |
|
Hypopituitarism, Decreased female libido, Hypogonadotropic hypogonadism, Decreased response to gr... |
ORPHA:251623 |
| Caspase 8 Deficiency |
|
Failure to thrive, Complete or near-complete absence of specific antibody response to unconjugate... |
OMIM:607271 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Skin rash, Maculopapular... |
ORPHA:540 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Ketonuria, Neonatal insulin-dependent diabetes mellitus, Ataxia, Abnormality o... |
ORPHA:99885 |
| Bjornstad Syndrome |
|
Alopecia, Brittle hair, Dry hair, Coarse hair, Hypogonadism, Hair shafts flattened at irregular i... |
OMIM:262000 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Bone pain, Arthralgia, Myeloid leukemia, Fatigue, Hepatomegaly, Neutrophilia, ... |
ORPHA:98849 |
| Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs... |
OMIM:226990 |
| Schnitzler Syndrome |
|
Fatigue, Hepatomegaly, Splenomegaly, Leukocytosis, Lymphoma, Bone pain, Lymphadenopathy, Increase... |
ORPHA:37748 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Inguinal hernia, Diabetes mellitus, Ataxia, Broad-based gait, Unilateral renal agenesis, Ectopic ... |
OMIM:616541 |
| Whipple Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Fever, Ataxia, Cachexia, Anorexia, Splenomegaly, Insul... |
ORPHA:3452 |
| Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Weight loss, Increased circul... |
ORPHA:100024 |
| Babesiosis |
|
Fatigue, Hepatomegaly, Hemolytic anemia, Splenomegaly, Jaundice, Leukopenia, Arthralgia, Myalgia,... |
ORPHA:108 |
| Familial Multiple Lipomatosis |
|
Odontogenic keratocysts of the jaw, Lipodystrophy, Increased adipose tissue, Insulin resistance, ... |
ORPHA:199276 |
| Nonaka Myopathy |
|
Elevated circulating creatine kinase concentration, Distal amyotrophy, EMG: myopathic abnormaliti... |
OMIM:605820 |
| Müllerian Aplasia And Hyperandrogenism |
|
Thick eyebrow, Short stature, Frontal balding, Synophrys, Obesity, Primary amenorrhea, Hypoplasia... |
ORPHA:247768 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... |
ORPHA:90794 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Small for gestational age, Insulin resistance, Flexion contracture, Elbow flexion contracture, Kn... |
OMIM:214150 |
| Acrokeratoderma, Hereditary Papulotranslucent |
|
Fine hair |
OMIM:101840 |
| Placental Insufficiency |
|
Hypoxemia, Insulin resistance, Small for gestational age |
ORPHA:439167 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Lack of facial subcutaneous fat, Dysmetria, Gait ataxia, Glucose intolerance, Vomiting, Decreased... |
OMIM:606721 |
| Hypouricemia, Renal, 1 |
|
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... |
OMIM:220150 |
| Cholera |
|
Fever, Abnormality of renal excretion, Hypoglycemia, Diarrhea, Vomiting, Lethargy, Acute kidney i... |
ORPHA:173 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Exercise intolerance, Decrease... |
OMIM:613561 |
| Aicardi-Goutieres Syndrome 3 |
|
Elevated hepatic transaminase, Thrombocytopenia, Hepatosplenomegaly |
OMIM:610329 |
| Meningococcal Meningitis |
|
Fever, Renal insufficiency, Projectile vomiting, Anorexia, Hypothermia, Lethargy |
ORPHA:33475 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Insulin-resistant diabetes mellitus, Insulin resistance, Enlarged kidney, Elevated circulating gr... |
ORPHA:90301 |
| Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Sparse hair, Cryptorchidism, Fine hair |
ORPHA:1174 |
| Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
Short stature, Small for gestational age, Postnatal growth retardation, Fine hair, Long eyelashes... |
ORPHA:231137 |
| Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Cachexia, Testicular neoplasm, Weight loss, Ovarian neoplasm |
ORPHA:83469 |
| Isolated Polycystic Liver Disease |
|
Increased total bilirubin |
ORPHA:2924 |
| Preeclampsia/Eclampsia 1 |
|
Elevated hepatic transaminase, Thrombocytopenia |
OMIM:189800 |
| Hypodontia-Dysplasia Of Nails Syndrome |
|
Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Polycystic ovaries, Thin toenail... |
ORPHA:2228 |
| Cyclic Neutropenia |
|
Fatigue, Cyclic neutropenia, Abdominal pain, Perianal abscess, Peritonitis, Cervical lymphadenopa... |
ORPHA:2686 |
| Tetrasomy 12P |
|
Sparse hair, Cachexia, Short stature, Sparse eyebrow |
ORPHA:884 |
| Hepatic Veno-Occlusive Disease |
|
Increased total bilirubin |
ORPHA:890 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Elevated circulating creat... |
OMIM:601954 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Reduced subcutaneous adipose tis... |
OMIM:269700 |
| Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Night sweats, Weight loss, Hepatosplenomegaly, Lymphadenopathy, Enlar... |
OMIM:209950 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Male hypogonadism, Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism, Absence of secondar... |
ORPHA:432 |
| 46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ... |
OMIM:273250 |
| Combined Oxidative Phosphorylation Deficiency 38 |
|
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... |
OMIM:618378 |
| Seckel Syndrome 10 |
|
Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Elevated circulating aspartate... |
OMIM:617253 |
| Mitchell-Riley Syndrome |
|
Absent gallbladder, Diabetes mellitus, Diarrhea, Biliary atresia, Cholestasis, Acholic stools, Hy... |
OMIM:615710 |
| Eem Syndrome |
|
Abnormality of retinal pigmentation, Abnormal dental morphology, Selective tooth agenesis, Cariou... |
ORPHA:1897 |
| Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Acanthocytosis, Steatorrhea, EMG: myopathic ... |
ORPHA:71 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
| Nemaline Myopathy 2 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Sternocleidomastoid amyotrophy, Weakness ... |
OMIM:256030 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Failure to thrive, Hypoglycemia, Decreased liver function, Thrombocytopenia |
ORPHA:67048 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Fever, Hip contracture, Abnormality of temperature regulation, Hypothermia, Inability to walk, Un... |
OMIM:618493 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Increased serum bile acid concentration, Increased total iron binding capacity, Hyperbilirubinemia |
OMIM:616278 |
| Adrenal Hypoplasia, Congenital |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... |
OMIM:300200 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Short stature, Generalized hirsutism, Cachexia |
ORPHA:1933 |
| Isolated Sedoheptulokinase Deficiency |
|
Renal insufficiency, Inguinal hernia, Portal hypertension, Flexion contracture, Hepatitis, Choles... |
ORPHA:440713 |
| Sea-Blue Histiocyte Disease |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... |
OMIM:269600 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypopituitarism, Vomiting, Addictive alcohol use, Hypercholesterolemia, Hyperglycemia, Hypothyroi... |
ORPHA:90065 |
| Shaheen Syndrome |
|
Carious teeth, Enamel hypoplasia |
OMIM:615328 |
| Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Achilles tendon contractur... |
OMIM:620068 |
| Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... |
OMIM:619203 |
| Rhabdoid Tumor |
|
Renal neoplasm, Hypercalcemia, Abdominal pain, Thrombocytopenia, Lymphadenopathy, Weight loss, Ne... |
ORPHA:69077 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... |
ORPHA:1028 |
| Secondary Intestinal Lymphangiectasia |
|
Fatigue, Lymphopenia, Abdominal colic, Decreased circulating IgG1 level, B-cell lymphoma, Reduced... |
ORPHA:90363 |
| Tularemia |
|
Brain abscess, Abnormal nasopharyngeal adenoid morphology, Ocular pain, Mediastinal lymphadenopat... |
ORPHA:3392 |
| Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries |
ORPHA:2229 |
| Leptin Receptor Deficiency |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
OMIM:614963 |
| Mehmo Syndrome |
|
Hypoplasia of penis, Diabetes mellitus, Obesity, Agitation, Micropenis |
ORPHA:85282 |
| Primary Erythromelalgia |
|
Leukemia, Hypothermia |
ORPHA:90026 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Decreased circulating IgG level, Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic ... |
OMIM:614700 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Omphalocele, Increased body mass index, Broad-based gait, Increased T3/T4 ratio, Increased body w... |
OMIM:614450 |
| Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
| Sweet Syndrome |
|
Predominantly dermal neutrophilic infiltrate, Myositis, Increased circulating interleukin 6 conce... |
ORPHA:3243 |
| Christianson Syndrome |
|
Cachexia, Thick eyebrow |
ORPHA:85278 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia |
ORPHA:231393 |
| Lipoyltransferase 1 Deficiency |
|
Hyperglutaminemia, Hyperprolinemia, Increased total bilirubin |
OMIM:616299 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Elevated circulating creatine kinase concentration, ... |
ORPHA:206549 |
| Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Conjugated hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:243300 |
| Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia |
ORPHA:157973 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Fatigue, Myelodysplasia, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemogl... |
ORPHA:231401 |
| Proteus Syndrome |
|
Splenomegaly, Multiple lipomas, Lipoma, Lymphangioma, Hemangioma |
OMIM:176920 |
| Cog4-Cdg |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive in infancy, Hepa... |
ORPHA:263501 |
| Laurence-Moon Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Ataxia, Congenital hepatic fibrosis, Obesity, Type II d... |
ORPHA:2377 |
| Developmental And Epileptic Encephalopathy 78 |
|
Inability to walk, Hypothermia |
OMIM:618557 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Skeletal muscle atrophy, Elevated circulating C-reactive... |
OMIM:256040 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Thrombocytopenia, Cryptorchidism, Patent ductus arteriosus, Elevated circulating cr... |
OMIM:608104 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase c... |
OMIM:614576 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Calf muscle pseudohypertrophy, Abetalipoproteinemia, Elevated circulating creatine kinase concent... |
ORPHA:96180 |
| Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Thromboc... |
ORPHA:858 |
| Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased circul... |
OMIM:300635 |
| Gitelman Syndrome |
|
Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Glucose intolerance, Tubulo... |
ORPHA:358 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
ORPHA:98754 |
| Fanconi-Bickel Syndrome |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperphosphaturia, Ketonuria, Proteinuria, Ele... |
OMIM:227810 |
| Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Secondary ame... |
OMIM:615300 |
| Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... |
OMIM:614480 |
| Hawkinsinuria |
|
Sparse hair, Failure to thrive, Hypothyroidism, Fine hair |
ORPHA:2118 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated hepatic transaminase, Fever, Nausea, Diarrhea, Hypoxemia, Vomiting, Acute kidney injury,... |
ORPHA:542323 |
| Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Carious teeth, Enamel hypoplasia, Hypodontia, Oral mucosal blisters |
OMIM:226650 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Hyponatremia, Hypertriglyceridemia, Pancytopenia, Re... |
OMIM:603553 |
| Aicardi-Goutieres Syndrome 6 |
|
Splenomegaly, Hepatomegaly, Hemolytic anemia, Thrombocytopenia |
OMIM:615010 |
| Hereditary Myopathy With Early Respiratory Failure |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Elevated circulating creati... |
ORPHA:178464 |
| Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... |
OMIM:601859 |
| Immunodeficiency 47 |
|
Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal... |
OMIM:300972 |
| Alexander Disease Type I |
|
Failure to thrive, Cachexia |
ORPHA:363717 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Abdominal pain, Splenomegaly, Thrombocytopenia, Hyperammonemia, Neutropenia, Failur... |
ORPHA:79312 |
| Spinocerebellar Ataxia 48 |
|
Cachexia |
OMIM:618093 |
| Megaloblastic Anemia, Folate-Responsive |
|
Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia |
OMIM:601775 |
| Hypertriglyceridemia 1 |
|
Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
| Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:859 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... |
OMIM:301078 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Elevated circulating creatine kinase concentration, Decreased cervical spine flexion d... |
ORPHA:98855 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Lipodystrophy, Failure to thrive in infancy, Elevated circulating C-reactive protei... |
OMIM:617099 |
| Galactokinase Deficiency |
|
Hepatomegaly, Small for gestational age, Hypoglycemia, Hypergonadotropic hypogonadism, Hyperinsul... |
ORPHA:79237 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Fatigue, Hepatomegaly, B-cell lymphoma, Splenomegaly, Lymphoma, Breast carcinoma, Lymphadenopathy... |
ORPHA:86893 |
| Cernunnos-Xlf Deficiency |
|
Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ... |
ORPHA:169079 |
| Pancreatic And Cerebellar Agenesis |
|
Reduced subcutaneous adipose tissue, Failure to thrive, Diabetes mellitus, Hypoglycemia, Flexion ... |
OMIM:609069 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
ORPHA:98793 |
| Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... |
ORPHA:199306 |
| Short Syndrome |
|
Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology, Insulin res... |
ORPHA:3163 |
| Immunodeficiency, Common Variable, 10 |
|
Recurrent oral herpes, Psoriasiform dermatitis, Frequent Giardia lamblia infestation, Hypoglycemi... |
OMIM:615577 |
| Smith-Kingsmore Syndrome |
|
Hypoglycemia, Diastasis recti, Large for gestational age, Cryptorchidism, Umbilical hernia, Throm... |
OMIM:616638 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Decreased circulating cerul... |
OMIM:616828 |
| Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
| Squalene Synthase Deficiency |
|
Failure to thrive in infancy, Increased circulating farnesol concentration, Bilateral cryptorchid... |
OMIM:618156 |
| Alpha-Heavy Chain Disease |
|
Hepatomegaly, Dysgammaglobulinemia, Abdominal pain, Splenomegaly, Lymphoma, Lymphadenopathy, Hypo... |
ORPHA:100025 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Type II diabetes mel... |
OMIM:616860 |
| Multiminicore Myopathy |
|
Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Proximal muscle weakne... |
ORPHA:598 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Dorsocervical fat pad, Paradoxical increased cortisol secretion... |
ORPHA:189427 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy |
OMIM:183350 |
| Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly, Fatigue, Hypertriglyceridemia, Hypoglycemia, Splenom... |
OMIM:306000 |
| Retinitis Pigmentosa |
|
Hypoplasia of penis, Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II ... |
ORPHA:791 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
ORPHA:177904 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... |
ORPHA:247598 |
| Poems Syndrome |
|
Fatigue, Diabetes mellitus, Lipodystrophy, Thrombocytosis, Lymphoproliferative disorder, Abnormal... |
ORPHA:2905 |
| Welander Distal Myopathy |
|
Distal amyotrophy, Mildly elevated creatine kinase, Rimmed vacuoles |
OMIM:604454 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Intrauterine growth retardation, Failure to thrive in infancy, Cachexia |
OMIM:616801 |
| Ovarian Dysgenesis 8 |
|
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasti... |
OMIM:618187 |
| Precocious Puberty, Male-Limited |
|
Decreased testicular size, Precocious puberty in males |
OMIM:176410 |
| Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Fragile nails, Fine hair |
ORPHA:500166 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Decreased serum iron, Increased circulating IgE level, Hypereosinophilia, ... |
OMIM:212050 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
ORPHA:177901 |
| Congenital Glucokinase-Related Hyperinsulinism |
|
Fatigue, Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypogl... |
ORPHA:79299 |
| Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia |
ORPHA:517 |
| Myopathy, Distal, With Rimmed Vacuoles |
|
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... |
OMIM:617158 |
| Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphoma, Lymphadenopathy, Decreased circulati... |
ORPHA:397596 |
| Wt Limb-Blood Syndrome |
|
Pancytopenia, Cryptorchidism, Joint contracture of the 5th finger, Leukemia, Hypoplastic anemia, ... |
OMIM:194350 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:610021 |
| Hsd10 Mitochondrial Disease |
|
Elevated circulating tiglylglycine concentration, Hypoglycemia, Abnormal mitochondrial morphology |
OMIM:300438 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Ketonuria, Elevated circulating growth hormone concentration, Large for gestational age, Abnormal... |
ORPHA:79644 |
| Ovarian Dysgenesis 10 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:619834 |
| Griscelli Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Dec... |
ORPHA:381 |
| Exercise-Induced Malignant Hyperthermia |
|
Ataxia, Hypocapnia, Oliguria, Malignant hyperthermia, Vomiting, Decreased liver function, Hepatic... |
ORPHA:466650 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa... |
OMIM:267700 |
| Immunodeficiency 102 |
|
Decreased circulating IgG level, Hepatomegaly, Partial absence of specific antibody response to H... |
OMIM:301082 |
| Eosinophilic Fasciitis |
|
Fatigue, Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia, Weight loss, Arthralg... |
ORPHA:3165 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Lymphoproliferative disorder, Eosinophilia, Autoimmune thrombocytope... |
ORPHA:911 |
| Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... |
ORPHA:90797 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Short stature, Cachexia |
ORPHA:1389 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Decreased circulating cortisol level, Precocious puberty, Cryptorchidism, Abnormal circulating re... |
OMIM:614736 |
| Exercise Intolerance, Riboflavin-Responsive |
|
Exercise intolerance, Ragged-red muscle fibers |
OMIM:616839 |
| Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl... |
OMIM:618963 |
| Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... |
OMIM:619326 |
| Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Elevated circulating creatine k... |
OMIM:618655 |
| Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
| Cholestasis-Lymphedema Syndrome |
|
Conjugated hyperbilirubinemia, Hyperlipidemia |
OMIM:214900 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Decreased response to growth hormone stimulation test, Precocious puberty, Pituitary adenoma, Adr... |
ORPHA:91354 |
| Perrault Syndrome 6 |
|
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second... |
OMIM:617565 |
| Ethylene Glycol Poisoning |
|
Renal insufficiency, Cyanosis, Gastritis, Ataxia, Nausea, Hypothermia, Renal tubular epithelial n... |
ORPHA:31826 |
| Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Cardiomegaly, Hepatic fibrosis, Hypoalbuminemia, Hypocho... |
ORPHA:14 |
| Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Ago... |
ORPHA:983 |
| Refractory Anemia |
|
Fatigue, Normocytic anemia, Macrocytic anemia, Single lineage myelodysplasia, Anemia of inadequat... |
ORPHA:98826 |
| Infantile Sialic Acid Storage Disease |
|
Conjugated hyperbilirubinemia, High palate, Gingival overgrowth |
OMIM:269920 |
| Forsythe-Wakeling Syndrome |
|
Thrombocytopenia, Decreased body weight |
OMIM:613606 |
| Alg8-Cdg |
|
Elevated hepatic transaminase, Hyponatremia, Abnormality of subcutaneous fat tissue, Small for ge... |
ORPHA:79325 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
| Orthostatic Hypotension 1 |
|
Intermittent hypothermia, Nocturia, Neonatal hypoglycemia, Reduced circulating prolactin concentr... |
OMIM:223360 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Fatigue, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Increased c... |
OMIM:253601 |
| Mast Cell Sarcoma |
|
Fatigue, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphadenopathy, M... |
ORPHA:66661 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Short stature, Hypogonadotropic hypogonad... |
ORPHA:2235 |
| Microduplication Xp11.22P11.23 Syndrome |
|
Precocious puberty, Obesity |
ORPHA:217377 |
| Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Back pain, Splenomegaly, Jaun... |
ORPHA:905 |
| Premature Ovarian Failure 15 |
|
Irregular menstruation, Secondary amenorrhea, Elevated circulating follicle stimulating hormone l... |
OMIM:618096 |
| Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Elevated circul... |
OMIM:619644 |
| Hypokalemic Periodic Paralysis |
|
Postprandial hyperglycemia, Adrenocortical adenoma |
ORPHA:681 |
| Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... |
OMIM:614493 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Failure to thrive in infancy, Decreased proportion... |
OMIM:606367 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Scapular winging, Abnormal macrophage morphology, Calf muscle pseudohypertrophy, Elevated circula... |
ORPHA:353 |
| Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Glomerulopathy, Renal insufficiency, Ketonuria, Hypoglycemia, Ataxia, Hypothermia, Hemolytic-urem... |
ORPHA:79282 |
| Immunodeficiency 22 |
|
Decreased circulating IgG level, Failure to thrive, Abscess, Thrombocytopenia, Decreased circulat... |
OMIM:615758 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Scapular winging, Elevated circulating creatine kinase concentration, Ankle flexion contracture, ... |
OMIM:608099 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Short stature, Small for gestational age, Maturity-onset diabetes of the young, Postnatal growth ... |
ORPHA:96184 |
| Atypical Werner Syndrome |
|
Fasting hyperinsulinemia, Neoplasm of the breast, Hyperglycemia, Hepatic steatosis, Renal neoplas... |
ORPHA:79474 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Elevated circulating creatine kinase concentration, Decreased cervical spine flexion d... |
ORPHA:98863 |
| Congenital Rubella Syndrome |
|
Hepatomegaly, Splenomegaly, Jaundice, Patent ductus arteriosus, Anemia, Type I diabetes mellitus,... |
ORPHA:290 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Hypothermia, Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Co... |
OMIM:218700 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Joint contracture, Inguinal hernia, Hypothermia |
OMIM:614498 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Increased circulating IgE level, Hep... |
OMIM:304790 |
| Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Elevated circulating creatine kinase concentration, Decreased cervical spine flexion d... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Elevated circulating creatine kinase concentration, Decreased cervical spine flexion d... |
ORPHA:98853 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Small scrotum, External genital hypoplasia, Clitoral hypoplasia, Premature adrenarche, Micropenis... |
ORPHA:398079 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ... |
OMIM:614300 |
| Ovarian Fibrothecoma |
|
Ovarian fibroma, Metrorrhagia, Abnormal circulating hormone concentration, Abnormal endometrium m... |
ORPHA:314478 |
| Fetal Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Flexion contracture, Arthrog... |
ORPHA:85212 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... |
ORPHA:766 |
| Temple Syndrome |
|
Short stature, Small for gestational age, Maturity-onset diabetes of the young, Precocious pubert... |
OMIM:616222 |
| Ectodermal Dysplasia 4, Hair/Nail Type |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... |
OMIM:602032 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami... |
OMIM:615558 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Ambiguous genitalia, female, Increased circulating renin le... |
ORPHA:90791 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Hepatic steatosis, Hypertrigl... |
ORPHA:436182 |
| Potocki-Lupski Syndrome |
|
Hypothyroidism, Failure to thrive, Small for gestational age, Hypocholesterolemia |
OMIM:610883 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Back pain, Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concen... |
OMIM:300696 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Increased sarcoplasm... |
ORPHA:264580 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Decreased fertility, G... |
OMIM:234050 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Ketotic hypoglycemia... |
ORPHA:79240 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Woolly hair |
OMIM:610476 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Inguinal hernia, Cryptorchidism, Patent ductus arterio... |
OMIM:614857 |
| Aicardi-Goutieres Syndrome 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thro... |
OMIM:610333 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Abnormal... |
ORPHA:79124 |
| Peroxisome Biogenesis Disorder 3B |
|
Hepatomegaly, Elevated circulating phytanic acid concentration, Steatorrhea, Failure to thrive, H... |
OMIM:266510 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Eosinophilia, Splenomegaly, Myalgia, Myeloproliferative disorder |
OMIM:607685 |
| Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Hypoglycemia, Thrombocytopenia, Hyperammonemia, Hyperglycinemia, Neut... |
OMIM:606054 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, P... |
OMIM:618398 |
| Mevalonic Aciduria |
|
Elevated hepatic transaminase, Normocytic hypoplastic anemia, Failure to thrive in infancy, Eleva... |
OMIM:610377 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Decreased testicular size, Alopecia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia... |
ORPHA:453533 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Inguinal hernia, Lymphopenia, Intermittent thrombocytopenia, Perianal abscess, Sple... |
OMIM:612541 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Recurrent urinary tract infections, Ataxia, Hypothermia, Flexion contracture, Dysmetria, Gait ata... |
ORPHA:99027 |
| X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Fatigue, Splenomegaly, Glucose intolerance, Abnormality of iron ho... |
ORPHA:75563 |
| Bardet-Biedl Syndrome 1 |
|
Diabetes mellitus, Ataxia, Abnormality of the kidney, Nephrogenic diabetes insipidus, Insulin res... |
OMIM:209900 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Hypospadias, Small for gestational age, Decreased response to growth hormone stimulation test, Pr... |
ORPHA:96182 |
| Rett Syndrome |
|
Inability to walk, Bradykinesia, Gait disturbance, Cholecystitis, Difficulty walking, Agitation, ... |
ORPHA:778 |
| Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Myelodysplasia, Thrombocytopenia, Neutropenia, Failure to th... |
OMIM:617475 |
| Renal Glucosuria |
|
Polyuria, Enuresis nocturna, Glycosuria, Polydipsia, Polyphagia |
OMIM:233100 |
| Tooth Agenesis, Selective, X-Linked, 1 |
|
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... |
OMIM:313500 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Nonketotic hypoglycemia, Sudden cardiac dea... |
ORPHA:99901 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Hyperlipidemia, Por... |
ORPHA:369 |
| Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Myelodysplasia, Adrenal hypoplasia, Anemia, Leukopenia, Bone marrow hypoc... |
OMIM:619151 |
| Perlman Syndrome |
|
Hepatomegaly, Inguinal hernia, Femoral hernia, Cryptorchidism, Abnormal pancreas morphology, Hype... |
ORPHA:2849 |
| Bile Acid Conjugation Defect 1 |
|
Conjugated hyperbilirubinemia |
OMIM:619232 |
| Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Increased serum pyruvate, Fatigue, Exercise intolerance, Increased adipose tissue, Ragged-red mus... |
ORPHA:1349 |
| Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Abnormality of thrombocytes, Splenomegaly, Jaundice, Cholestasis, Neoplasm, Hypocal... |
ORPHA:172 |
| Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Increased connective tissue, Scarring alopecia of scalp, Motheaten muscle fibers, Muscular dystro... |
OMIM:226670 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Chronic neutropenia, Anemia |
OMIM:619302 |
| Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Ovarian neoplasm, Fine hair, Weight loss, ... |
ORPHA:2221 |
| Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
| Wolcott-Rallison Syndrome |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hyponatremia, Neonatal insuli... |
ORPHA:1667 |
| Bloom Syndrome |
|
Acute myeloid leukemia, Malignant genitourinary tract tumor, Recurrent urinary tract infections, ... |
ORPHA:125 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Hypothermia |
OMIM:614654 |
| Bachmann-Bupp Syndrome |
|
Thin upper lip vermilion, High palate, Hyperbilirubinemia, Hypoglycemia |
OMIM:619075 |
| Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Postnatal growth retardation, Intrauterine growth retardation, Precocious puberty, Obesity |
ORPHA:254525 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Hyperammonemia, Leukopenia, Hyperglycinemia, ... |
OMIM:251000 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
| Slc35A1-Cdg |
|
Giant platelets, Hypoxemia, Neutropenia, Cellulitis, Abnormal platelet granules, Thrombocytopenia |
ORPHA:238459 |
| Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
| Premature Ovarian Failure 13 |
|
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... |
OMIM:617442 |
| Pyruvate Carboxylase Deficiency |
|
Hepatomegaly, Hypoglycemia, Ataxia, Anorexia, Lacticaciduria, Tip-toe gait, Vomiting, Compulsive ... |
ORPHA:3008 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Failure to thrive, Pancytopenia, Hypoglycemia, Hypergonadotropic hypogonadism, Elev... |
OMIM:617872 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Short stature, Small for gestational age, Cryptorchidism, Fine hair, Growth delay, Delayed pubert... |
OMIM:616817 |
| Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa |
OMIM:616760 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated circulating C-reactive protein concentration, Leukopenia, Arthralgia, Hashimoto thyroidi... |
OMIM:615688 |
| Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... |
ORPHA:64743 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Keloids |
ORPHA:3085 |
| Polyembryoma |
|
Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Abnormality of the... |
ORPHA:180229 |
| Pelger-Huet Anomaly |
|
Foot dorsiflexor weakness, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Gia... |
OMIM:169400 |
| Schimke Immuno-Osseous Dysplasia |
|
Lymphopenia, Non-Hodgkin lymphoma, Small for gestational age, Lymphoproliferative disorder, Abnor... |
ORPHA:1830 |
| Leprechaunism |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Insulin resistance, Long penis, Hyperinsulinem... |
ORPHA:508 |
| Wolman Disease |
|
Growth delay, Adrenal insufficiency, Adrenal calcification, Cachexia |
ORPHA:75233 |
| Trichothiodystrophy 5, Nonphotosensitive |
|
Brittle hair, Short stature, Slow-growing hair, Sparse eyebrow, Micropenis, Reduced hair sulfur c... |
OMIM:300953 |
| Gray Platelet Syndrome |
|
Splenomegaly, Myelodysplasia, Abnormality of thrombocytes, Thrombocytopenia |
ORPHA:721 |
| Non-Involuting Congenital Hemangioma |
|
Perineal hemangioma, Midfrontal capillary hemangioma, Hepatic hemangioma, Tufted angioma, Viscera... |
ORPHA:141179 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Maturity-onset diabetes of the young, Postnatal growth retardation, Precocious puberty, Obesity, ... |
ORPHA:254531 |
| Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Sparse scalp hair, Alopecia, Short stature, Sparse eyebrow, Hypothyroidism, Fine hair, Dystrophic... |
ORPHA:1882 |
| Immunodeficiency 92 |
|
Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S... |
OMIM:619652 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Diabetes mellitus, Abnormality of the kidney, Overweight, Repetitive compulsive behavior, Flexion... |
ORPHA:391372 |
| Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil a... |
OMIM:607594 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Recurrent respiratory infections, Hypoglycemia, Hyperlipidemia, Recurrent infections, Hyperuricemia |
ORPHA:364 |
| Barth Syndrome |
|
Fatigue, Exercise intolerance, Cyclic neutropenia, Abnormal mitochondrial morphology, Hypochromic... |
OMIM:302060 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Adrenal hyperplasia, Diabetes mellitus, Dorsocervical fat pad, Increased body weight, Increased c... |
OMIM:615830 |
| Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Diarr... |
OMIM:600955 |
| Gaucher Disease, Type Iii |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Decreased body weight, Thrombocytopenia |
OMIM:231000 |
| Folate Malabsorption, Hereditary |
|
Folate-responsive megaloblastic anemia, Leukopenia, Neutropenia, Failure to thrive, Thrombocytopenia |
OMIM:229050 |
| Pili Torti |
|
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... |
ORPHA:2889 |
| Muscle Filaminopathy |
|
Extremely elevated creatine kinase, Back pain, Scapular winging, Fatty replacement of skeletal mu... |
ORPHA:171445 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Fatigue, Skeletal muscle atrophy, Hypoglycemia, Elev... |
ORPHA:42 |
| Tuberculosis |
|
Weight loss |
ORPHA:3389 |
| Prader-Willi Syndrome |
|
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... |
ORPHA:739 |
| Premature Ovarian Failure 6 |
|
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Fe... |
OMIM:612310 |
| Mirage Syndrome |
|
Hyponatremia, Hypoglycemia, Hypergonadotropic hypogonadism, Myelodysplasia, Adrenal hypoplasia, T... |
OMIM:617053 |
| Adult-Onset Nemaline Myopathy |
|
Flexion contracture, Paraproteinemia, Increased muscle lipid content, Upper limb muscle weakness,... |
ORPHA:171442 |
| 48,Xxyy Syndrome |
|
Hypoplasia of penis, Inguinal hernia, Ataxia, Abnormal dental enamel morphology, Hypergonadotropi... |
ORPHA:10 |
| Woodhouse-Sakati Syndrome |
|
Alopecia, Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Hypergonad... |
OMIM:241080 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Flexion contracture, Patent ductus arteriosus, Leuk... |
OMIM:617303 |
| Mitochondrial Myopathy, Infantile, Transient |
|
Increased serum pyruvate, Hepatomegaly, Elevated circulating creatine kinase concentration, Facia... |
OMIM:500009 |
| Fanconi Anemia, Complementation Group G |
|
Myelodysplasia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:614082 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Frontal balding, Precocious puberty, Incre... |
ORPHA:786 |
| Colchicine Poisoning |
|
Renal insufficiency, Diarrhea, Oliguria, Vomiting, Nausea |
ORPHA:31824 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Short stature, Congenital adrenal hyperplasia, De... |
OMIM:202010 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Hypercholesterolemia, Incr... |
OMIM:620211 |
| Dubowitz Syndrome |
|
Inguinal hernia, Aplastic anemia, Cryptorchidism, Lymphoma, Acute lymphoblastic leukemia, Hypocho... |
OMIM:223370 |
| Sengers Syndrome |
|
Fatigue, Exercise intolerance, Sudden cardiac death, Decreased activity of mitochondrial complex ... |
OMIM:212350 |
| Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
| Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Hypercalcemia, Hemangiomatosis, Visceral angiomatosis, Patent ductus arteriosus, An... |
ORPHA:2123 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin |
OMIM:618528 |
| Ring Chromosome 10 Syndrome |
|
Intrauterine growth retardation, Cachexia |
ORPHA:1438 |
| Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Hypoplasia of penis, Gastroesophageal reflux, Hypothermia |
ORPHA:168593 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Conjugated hyperbilirubinemia, Hyperammonemia, Hypoglycemia, Elevated circulating alpha-fetoprote... |
OMIM:617049 |
| Obesity |
|
Increased waist to hip ratio, Obesity, Decreased resting energy expenditure |
OMIM:601665 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology... |
ORPHA:75840 |
| Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth |
|
Natal tooth |
OMIM:243185 |
| Teeth Present At Birth |
|
Natal tooth |
OMIM:187050 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Autophagic vacuoles, Elevated circulating creatine kinase concentration, Facial hypotonia, Fatty ... |
ORPHA:266 |
| Refractory Anemia With Excess Blasts |
|
Abnormal circulating protein concentration, Fatigue, Acute myeloid leukemia, Single lineage myelo... |
ORPHA:86839 |
| Myopathy, Myofibrillar, 5 |
|
Myofibrillar myopathy, Elevated circulating creatine kinase concentration, Muscle fiber cytoplasm... |
OMIM:609524 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Elevated circulating creatine kinase concentration, Proximal upper limb amyotrophy, Myopathy, Sho... |
OMIM:609115 |
| Spastic Paraplegia Type 7 |
|
Ragged-red muscle fibers, Abnormal mitochondrial morphology, Upper limb muscle weakness, Lower li... |
ORPHA:99013 |
| Relapsing Fever |
|
Elevated hepatic transaminase, Fatigue, Neutrophilia, Elevated circulating C-reactive protein con... |
ORPHA:91547 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:608799 |
| Congenital Myopathy 10A, Severe Variant |
|
Camptodactyly of finger, Elevated circulating creatine kinase concentration, Facial palsy, Increa... |
OMIM:614399 |
| Pseudo-Torch Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Patent ductus arteriosus, De... |
OMIM:251290 |
| Sandhoff Disease, Adult Form |
|
Muscle fiber atrophy, Upper limb muscle weakness, Elevated circulating creatine kinase concentrat... |
ORPHA:309169 |
| Myopathy, Distal, 5 |
|
Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower... |
OMIM:617030 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Severe failure to thrive, Intrauterine growth retardation, Short stature, Cachexia |
ORPHA:371364 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Leukopenia, Decreased circulating to... |
OMIM:620210 |
| Nephronophthisis-Like Nephropathy 2 |
|
Renal insufficiency, Polyuria, Periglomerular fibrosis, Stage 5 chronic kidney disease, Tubular l... |
OMIM:619468 |
| Distal Xq28 Microduplication Syndrome |
|
Dental crowding, Short lingual frenulum, Hypoplasia of the maxilla, Thick lower lip vermilion, Hi... |
ORPHA:293939 |
| Prolactinoma |
|
Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed puberty, ... |
ORPHA:2965 |
| Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
| Peritoneal Cystic Mesothelioma |
|
Menorrhagia, Dyspareunia, Metrorrhagia, Weight loss |
ORPHA:168816 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Decreased circulating IgG level, Abnormally low T cell receptor excision circle level, Pancytopen... |
OMIM:618986 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Facial palsy, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia |
OMIM:615085 |
| Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Lymphoma, Lymphaden... |
OMIM:240500 |
| Premature Ovarian Failure 5 |
|
Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas... |
OMIM:611548 |
| Premature Ovarian Failure 8 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:615723 |
| Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:158000 |
| Boutonneuse Fever |
|
Elevated hepatic transaminase, Abdominal pain, Cervical lymphadenopathy, Lymphadenopathy, Leukope... |
ORPHA:83313 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Hepatomegaly, Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen... |
ORPHA:254864 |
| Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
|
Foot dorsiflexor weakness, Peroneal muscle atrophy, Z-band streaming, Weakness of facial musculat... |
OMIM:181400 |
| Menkes Disease |
|
Gastrointestinal hemorrhage, Inguinal hernia, Hypoglycemia, Hypothermia, Atypical scarring of ski... |
ORPHA:565 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Fever, Anuria, Hemolytic-uremic syndrome, Diarrhea, Hyperlipidemia, Acute kidney injury |
OMIM:235400 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Diabetes mellitus, Hypomagnesemia, Thrombocytopenia, Leukopenia, Hype... |
OMIM:613845 |
| Jalili Syndrome |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Carious teeth, Retin... |
OMIM:217080 |
| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Abnormal hemoglob... |
ORPHA:90039 |
| Distal Myopathy, Tateyama Type |
|
Calf muscle pseudohypertrophy, Calf muscle hypoplasia, Increased variability in muscle fiber diam... |
ORPHA:488650 |
| Pituitary Hormone Deficiency, Combined, 6 |
|
Neonatal hypoglycemia, Hypoglycemia, Hyperbilirubinemia |
OMIM:613986 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Hepatic melanin-l... |
OMIM:208085 |
| Vaginal Atresia |
|
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ... |
ORPHA:65681 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Diabetes mellitus, Dorsocervical fat pad, Delayed thelarche, Delayed puberty, Hyperinsulinemic hy... |
OMIM:616033 |
| Gamma-Heavy Chain Disease |
|
Fatigue, Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Th... |
ORPHA:100026 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Increased serum iron, Increased total iron binding capacity, Hyperbilirubinemia, Gingival bleeding |
ORPHA:98870 |
| Trichohepatoenteric Syndrome 2 |
|
Brittle hair, Small for gestational age, Woolly hair, Uncombable hair, Sparse hair, Intrauterine ... |
OMIM:614602 |
| Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Arthralgia, Hyp... |
OMIM:616834 |
| Systemic Lupus Erythematosus 17 |
|
Autoimmune thrombocytopenia, Leukopenia, Arthralgia, Lymphopenia, Thrombocytopenia |
OMIM:301080 |
| Clouston Syndrome |
|
Alopecia, Brittle hair, Short stature, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Spa... |
OMIM:129500 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Decreased CD4:CD8 ratio, Splenomegaly, Lymphadenopathy... |
OMIM:618495 |
| Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Lymphoproliferative disorder, Splenomegaly, Lymphoma... |
OMIM:615122 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, Elevated circu... |
OMIM:608423 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Fever, Hepatomegaly, Multiple glomerular cysts, Ataxia, Hypothermia, Lacticaciduria, Dysphagia, G... |
ORPHA:255210 |
| Weaver Syndrome |
|
Deep-set nails, Hypoplasia of penis, Abnormal fingernail morphology, Thin nail, Hypoplastic toena... |
ORPHA:3447 |
| Bardet-Biedl Syndrome 12 |
|
Obesity, Hypogonadism, Vaginal atresia, Hydrometrocolpos |
OMIM:615989 |
| Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Increas... |
OMIM:275000 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Elevated hepatic transaminase, Decreased circulating IgG level, Severe B lympho... |
OMIM:620005 |
| Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i... |
OMIM:619130 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye... |
ORPHA:1433 |
| Sialidosis Type 2 |
|
Hepatomegaly, Inguinal hernia, Skeletal muscle atrophy, Splenomegaly, Flexion contracture, Umbili... |
ORPHA:87876 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, In... |
ORPHA:210136 |
| Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... |
ORPHA:573 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Hypoglycemic seizures, Hyperbilirubinemia |
OMIM:609734 |
| Congenital Myopathy 14 |
|
Hip contracture, Flexion contracture, Elbow flexion contracture, Increased variability in muscle ... |
OMIM:618414 |
| Immunodeficiency 76 |
|
B-cell lymphoma, Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
| Trichothiodystrophy 1, Photosensitive |
|
Brittle hair, Short stature, Trichoschisis, Small for gestational age, Fine hair, Fragile nails, ... |
OMIM:601675 |
| Acute Panmyelosis With Myelofibrosis |
|
Fatigue, Acute myeloid leukemia, Pancytopenia, Low back pain, Splenomegaly, Acute myelomonocytic ... |
ORPHA:86843 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s... |
ORPHA:811 |
| Chronic Myeloid Leukemia |
|
Fatigue, Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder... |
ORPHA:521 |
| Sézary Syndrome |
|
Hepatomegaly, Skeletal muscle atrophy, Cutaneous T-cell lymphoma, Abnormal immunoglobulin level, ... |
ORPHA:3162 |
| Immunodeficiency 46 |
|
Intermittent thrombocytopenia, Decreased circulating antibody level, Neutropenia, Failure to thri... |
OMIM:616740 |
| Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Fatigue, Scapular winging, Angulated muscle fibers, Shoulder girdle muscle weakness, Weakness of ... |
OMIM:619477 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Bifid scrotum, Hypospadias, Dysmenorrhea, Small for gestational age, Postnatal growth retardation... |
ORPHA:397590 |
| Classic Hodgkin Lymphoma |
|
Fatigue, Hepatomegaly, Splenomegaly, Lymphoma, Bone pain, Weight loss, Lymphadenopathy, Chest pai... |
ORPHA:391 |
| Sickle Cell Anemia |
|
Pigment gallstones, Hemolytic anemia, Reticulocytosis, Thrombocytosis, Microcytic anemia, Abnorma... |
ORPHA:232 |
| Shigellosis |
|
Hyponatremia, Fatigue, Failure to thrive in infancy, Abscess, Hypoglycemia, Abdominal pain, Perit... |
ORPHA:810 |
| Immunodeficiency, Common Variable, 7 |
|
Pharyngalgia, Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin leve... |
OMIM:614699 |
| Frasier Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Male pseu... |
ORPHA:347 |
| Transaldolase Deficiency |
|
Thrombocytopenia, Hepatosplenomegaly, Abnormal circulating glutamine concentration, Increased ser... |
ORPHA:101028 |
| Bardet-Biedl Syndrome 2 |
|
Diabetes mellitus, Hypogonadism, Obesity |
OMIM:615981 |
| Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Small for gestational age, Splenomegaly, Micronodular cirrhosis, Thro... |
OMIM:606003 |
| Noonan Syndrome 12 |
|
Glabellar hemangioma, Lymphopenia, Decreased response to growth hormone stimulation test, Thrombo... |
OMIM:618624 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Neonatal death, Cachexia |
OMIM:618186 |
| Smith-Magenis Syndrome |
|
Hyperactivity, Hypertriglyceridemia, Abnormality of the thyroid gland, Abnormal renal morphology,... |
OMIM:182290 |
| Hypotrichosis 7 |
|
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... |
OMIM:604379 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Brittle hair, Short stature, Slow-growing hair, Small for gestational age, Mild intrauterine grow... |
OMIM:616943 |
| Monosomy 13Q34 |
|
Insulin resistance, Fetal pyelectasis, Obesity, Hematochezia, Hepatic steatosis |
ORPHA:96168 |
| Autosomal Dominant Spastic Paraplegia Type 29 |
|
Hyperbilirubinemia |
ORPHA:101009 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Facial palsy, Elevated circulating creatine kinase concentration, Flexion contracture, Shoulder g... |
OMIM:603511 |
| Angioma Serpiginosum, X-Linked |
|
Sparse hair, Nail dystrophy, Fine hair |
OMIM:300652 |
| Avian Influenza |
|
Elevated hepatic transaminase, Fatigue, Elevated circulating creatine kinase concentration, Eleva... |
ORPHA:454836 |
| Distal Myopathy, Welander Type |
|
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Distal upper l... |
ORPHA:603 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Anemia, Increased mean corpuscular volume, ... |
OMIM:619041 |
| Tangier Disease |
|
Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Abdominal... |
ORPHA:31150 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Hypothermia |
OMIM:616501 |
| Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... |
OMIM:159550 |
| Chylomicron Retention Disease |
|
Failure to thrive, Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocho... |
OMIM:246700 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Inguinal hernia, Skeletal muscle atrophy, Bone-marrow foam cells, Cardiomegaly, Spl... |
OMIM:256550 |
| Diffuse Cutaneous Mastocytosis |
|
Hepatomegaly, Abdominal pain, Abnormality of the spleen, Lymphadenopathy, Abnormality of the live... |
ORPHA:79456 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Fatigue, Portal hypertension, Nodular regenerative h... |
OMIM:619463 |
| Cole Disease |
|
Hyperglycemia |
OMIM:615522 |
| Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Abdominal pain, Hypersplenism, Splenomegaly, Thrombocytopenia, Bone p... |
ORPHA:77259 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Elevated circulating creatine kinase concentration, Flexion contracture, Increased variability in... |
OMIM:300718 |
| Hyperparathyroidism, Neonatal Severe |
|
Hepatomegaly, Hyperphosphaturia, Polyuria, Splenomegaly, Primary hyperparathyroidism, Hypercalciu... |
OMIM:239200 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Fatty replacement of skeletal muscle, Highly elevated creatine kinase, Calf muscle hypertrophy, P... |
OMIM:618848 |
| Gitelman Syndrome |
|
Polydipsia, Salt craving, Ataxia, Polyuria, Renal magnesium wasting, Enuresis, Hypocalciuria, Vom... |
OMIM:263800 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Alopecia, Small scrotum, Cryptorchidism, Fine hair, Hypogonadism, Intrauterine growth retardation |
ORPHA:228390 |
| Xfe Progeroid Syndrome |
|
Failure to thrive, Severe short stature, Premature ovarian insufficiency, Cachexia |
OMIM:610965 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Thrombocytopenia, Cr... |
OMIM:617052 |
| Spherocytosis, Type 4 |
|
Hyperbilirubinemia |
OMIM:612653 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Polyuria, Megacystis, Constipation, Vomiting, Unexplained fevers, Polydipsia, Failure to thrive, ... |
OMIM:304800 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
| Combined Oxidative Phosphorylation Deficiency 6 |
|
Increased serum pyruvate, Skeletal muscle atrophy, Decreased activity of mitochondrial complex IV... |
OMIM:300816 |
| Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Splenomegaly, Jaundice, Cirrhosis, Hyp... |
ORPHA:75234 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Intermittent hypothermia, Diarrhea, Tongue thrusting, Choreoathetosis, Athetosis, Constipation, G... |
OMIM:608643 |
| Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Alopecia, Nail dystrophy, Nail dysplasia |
OMIM:175500 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Polyuria, Nephrogenic diabetes insipidus, Megacystis, Constipation, Vomiting, Unexplained fevers,... |
OMIM:125800 |
| Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
| Cardiogenic Shock |
|
Hypoxemia, Oliguria |
ORPHA:97292 |
| Aromatase Deficiency |
|
Eunuchoid habitus, Hypergonadotropic hypogonadism, Insulin resistance, Hyperlipidemia, Obesity, T... |
ORPHA:91 |
| Classic Mycosis Fungoides |
|
Hepatomegaly, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm of the... |
ORPHA:2584 |
| Amelocerebrohypohidrotic Syndrome |
|
Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology, Yellow-b... |
ORPHA:1946 |
| Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Increased circulating ferritin concent... |
OMIM:613313 |
| Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Abdominal pain, Splenomegaly, Elevated circulating ... |
OMIM:210250 |
| Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
| Prolidase Deficiency |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Thromb... |
OMIM:170100 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Elevated circulating creatine kinase concentration, Sudden cardiac death, Centrally nucleated ske... |
OMIM:611705 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Increased serum pyruvate, Fatigue, Abdominal pain, Decreased activity of mitochondrial complex IV... |
OMIM:616794 |
| Beta-Thalassemia |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly... |
ORPHA:848 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, B-cell lymphoma, Splenomegaly, Enlarged tonsils, Chronic lymphat... |
OMIM:616005 |
| Tonne-Kalscheuer Syndrome |
|
Short stature, Hypospadias, Concave nail, Cryptorchidism, Fine hair, Growth delay, Small nail, Mi... |
OMIM:300978 |
| Idiopathic Achalasia |
|
Weight loss |
ORPHA:930 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Elevated hepatic transaminase, Hypoglycemia, Cholangitis, Ataxia, Microvesicular hepatic steatosi... |
OMIM:124000 |
| Immunodeficiency 54 |
|
Hepatomegaly, Lymphoproliferative disorder, Splenomegaly, Lymphadenopathy, Adrenocorticotropic ho... |
OMIM:609981 |
| Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Elevated circulating creatine kinase c... |
OMIM:160500 |
| Bardet-Biedl Syndrome 6 |
|
Diabetes mellitus, Hypospadias, External genital hypoplasia, Obesity, Vaginal atresia |
OMIM:605231 |
| Marburg Hemorrhagic Fever |
|
Elevated hepatic transaminase, Fever, Renal insufficiency, Hypoglycemia, Nausea, Anorexia, Aggres... |
ORPHA:99826 |
| Aicardi-Goutieres Syndrome 5 |
|
Flexion contracture, Thrombocytopenia |
OMIM:612952 |
| Harderoporphyria |
|
Increased circulating ferritin concentration, Neonatal hyperbilirubinemia |
OMIM:618892 |
| Stuve-Wiedemann Syndrome 2 |
|
Thrombocytopenia, Camptodactyly |
OMIM:619751 |
| Majeed Syndrome |
|
Hepatomegaly, Cachexia, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis, Flexion contra... |
ORPHA:77297 |
| Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia, B-cell lymphoma |
OMIM:619437 |
| Legionnaires Disease |
|
Hyponatremia, Fatigue, Abdominal pain, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Arthra... |
ORPHA:549 |
| Beta-Thalassemia Intermedia |
|
Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt... |
ORPHA:231222 |
| Atelis Syndrome 1 |
|
Decreased lymphocyte proliferation in response to anti-CD3, Anemia, Leukopenia, Hypothyroidism, T... |
OMIM:620184 |
| Splenoportal Vascular Anomalies |
|
Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fi... |
OMIM:271500 |
| Follicular Lymphoma |
|
Abnormal peritoneum morphology, Fatigue, Splenomegaly, Mediastinal lymphadenopathy, Night sweats,... |
ORPHA:545 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... |
OMIM:619375 |
| Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Iridocyclitis, Oligoarthritis, Uveitis, Ent... |
ORPHA:85436 |
| Glycogen Storage Disease Ixb |
|
Hepatomegaly, Hypoglycemia, Splenomegaly, Increased muscle glycogen content, Hyperuricemia, Incre... |
OMIM:261750 |
| Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Facial palsy, Thrombocytopenia, Bone marrow hypocellularity... |
OMIM:616435 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Myopathy, Neoplasm, Hypocalcificat... |
ORPHA:169090 |
| Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... |
OMIM:616313 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Lymphopenia, Autoimmune hemolytic anemia, Hypouricemia, Increased circulating guanosine concentra... |
OMIM:613179 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Lymphopenia, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Sple... |
OMIM:602450 |
| Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Diabetes mellitus, Megaloblastic anemia, Neutropenia, Diabetes insipidus, T... |
OMIM:598500 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Thrombocytopenia, Hyperammonemia, Neutropenia, Pancreatitis, Anemia |
ORPHA:289916 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism, Septate vagina, Uterus didelphys, Primary amenorrhea, Aplasia of the vagina, ... |
OMIM:146255 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Flexion contracture, Xerostomia, Increased body weight, Gastroesophageal reflux, Compulsive behav... |
ORPHA:398069 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I... |
OMIM:150550 |
| Fumarase Deficiency |
|
Reduced subcutaneous adipose tissue, Intrahepatic cholestasis, Mitochondrial swelling, Ascites, C... |
OMIM:606812 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Recurrent upper respiratory tract infections, Hypoglycemia, Pancreatitis, Hyperammonemia |
OMIM:620137 |
| Craniofrontonasal Dysplasia |
|
Hypospadias, Abnormality of hair texture, Widow's peak, Low posterior hairline, Shawl scrotum, Ri... |
ORPHA:1520 |
| Familial Glucocorticoid Deficiency |
|
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... |
ORPHA:361 |
| Odontomicronychial Dysplasia |
|
Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit... |
ORPHA:1811 |
| Glucocorticoid Resistance, Generalized |
|
Irregular menstruation, Increased circulating ACTH level, Increased circulating cortisol level, I... |
OMIM:615962 |
| Pelizaeus-Merzbacher Disease |
|
Short stature, Failure to thrive in infancy, Cachexia |
ORPHA:702 |
| Congenital Enterovirus Infection |
|
Fever, Hypothermia, Hepatitis, Cholestasis, Hepatic failure |
ORPHA:292 |
| Distal Myopathy With Anterior Tibial Onset |
|
Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Intrinsic h... |
ORPHA:178400 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Insulin resistance, Delayed puberty, Hyperlipidemia, Generalized lipodystrophy |
ORPHA:90154 |
| Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... |
OMIM:615724 |
| Familial Cold Autoinflammatory Syndrome 2 |
|
Pharyngalgia, Elevated circulating C-reactive protein concentration, Abdominal pain, Splenomegaly... |
OMIM:611762 |
| Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Fatigue, Generalized lymphadenopathy, Neutrophilia, ... |
ORPHA:829 |
| Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... |
ORPHA:91347 |
| Polymyositis |
|
Fatigue, Hepatomegaly, Elevated circulating creatine kinase concentration, Abdominal pain, Abnorm... |
ORPHA:732 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp... |
ORPHA:436159 |
| Pituitary Gigantism |
|
Elevated circulating growth hormone concentration, Amenorrhea, Increased circulating insulin-like... |
ORPHA:99725 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Macrocytic anemia, Thrombocytopenia, Hyperammonemia, Leukopenia, Pancreatitis, Anemia |
ORPHA:27 |
| Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Skeletal muscle atrophy, Myositis, Splenomegaly, Flexi... |
OMIM:619183 |
| Progeroid Syndrome, Petty Type |
|
Brittle hair, Short stature, Abnormal hair morphology, Abnormality of the nail, Long eyelashes in... |
ORPHA:2963 |
| Bone Marrow Failure Syndrome 4 |
|
Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocyt... |
OMIM:618116 |
| Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Carious teeth, Supernumerary tooth, Hypoplasia of the zygomatic bone, Micrognathia |
ORPHA:3145 |
| Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia |
OMIM:605479 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Diabetes mellitus, Small for gestational age, Proportionate short stature, Synophrys, Low anterio... |
ORPHA:391408 |
| Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Alopecia, Brittle hair, Short stature, Intrauterine growth retardation, Failure to thrive |
ORPHA:50812 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Large for gestational age, Thrombocytopenia, Bone marrow hypocellularity, Neutropenia, Umbilical ... |
OMIM:614520 |
| Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:615715 |
| Myasthenic Syndrome, Congenital, 14 |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Ragged... |
OMIM:616228 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Small for gestational age, Centrally nucleated skeletal muscle fibers, Weakness of facial muscula... |
OMIM:618484 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated circulating long chain fatty acid concentration, Prominence of the premaxilla, Hyperbili... |
OMIM:614886 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Portal hypertension, Hypersplenism, Spl... |
OMIM:613385 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea... |
OMIM:301056 |
| Wilson Disease |
|
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Hypoalbuminemia, Hepati... |
OMIM:277900 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Hypoglycemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemi... |
OMIM:617156 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Precocious puberty, Cryptorchidism, Synophrys, Growth delay, Gonadal dysgenesis, Hypogonadism |
ORPHA:3306 |
| Shwachman-Diamond Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Small for gest... |
OMIM:260400 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hyperbilirubinemia |
OMIM:301083 |
| Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Sparse hair, Woolly hair |
OMIM:278200 |
| Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:604498 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Exercise intolerance, Sideroblastic anemia, Pappenheimer bodies, Scapular winging, Microcytic ane... |
OMIM:600462 |
| Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Low back pain, Scapular winging, Proximal muscle weakness in upper limbs, Elevated circulating cr... |
OMIM:619733 |
| Neuroleptic Malignant Syndrome |
|
Elevated hepatic transaminase, Fever, Proteinuria, Urinary incontinence, Hypothermia, Vomiting, A... |
ORPHA:94093 |
| Hypomagnesemia 3, Renal |
|
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... |
OMIM:248250 |
| Rh-Null, Regulator Type |
|
Unconjugated hyperbilirubinemia |
OMIM:268150 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, In... |
ORPHA:158048 |
| Unclassified Myelodysplastic Syndrome |
|
Fatigue, Acute myeloid leukemia, Myelodysplasia, Leukocytosis, Night sweats, Bone marrow hypocell... |
ORPHA:98827 |
| Diffuse Alveolar Hemorrhage |
|
Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Weight loss, Hypox... |
ORPHA:90060 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Conjugated hyperbilirubinemia, Hyperbilirubinemia, Abnormal serum bile acid concentration |
ORPHA:79303 |
| Prader-Willi Syndrome |
|
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... |
OMIM:176270 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... |
ORPHA:79301 |
| Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, I... |
OMIM:613530 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Hypoplasia of penis, Short stature, Slow-growing hair, Abnormal hair morphology, Cryptorchidism, ... |
ORPHA:3082 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Myelodysplasia, Thrombocytopenia, Reticulocytopenia, Leukopenia, Panniculitis, B lymphocytopenia,... |
ORPHA:508542 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Hematuria, Acute ... |
OMIM:612925 |
| Myopathy, Centronuclear, 1 |
|
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... |
OMIM:160150 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Impaired glucose tolerance, Splenomegaly, Chronic kidney disease, Obesity, Cholesta... |
OMIM:615630 |
| Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Diabetes mellitus, Liver abscess, Cholangitis, Hypercholesterolemi... |
ORPHA:69663 |
| 2Q32Q33 Microdeletion Syndrome |
|
Short stature, Fine hair, Growth delay, Sparse hair, Decreased testicular size |
ORPHA:251019 |
| Immunodeficiency 10 |
|
Kaposi's sarcoma, Autoimmune hemolytic anemia, Lymphadenopathy, Myopathy, Thrombocytopenia, Amelo... |
OMIM:612783 |
| Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:616433 |
| Fg Syndrome 3 |
|
Sparse hair, Cryptorchidism, Frontal upsweep of hair, Fine hair |
OMIM:300406 |
| Steinert Myotonic Dystrophy |
|
Brain neoplasm, Decreased response to growth hormone stimulation test, Oral-pharyngeal dysphagia,... |
ORPHA:273 |
| Uncombable Hair Syndrome 3 |
|
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi |
OMIM:617252 |
| Bangstad Syndrome |
|
Small for gestational age, Insulin-resistant diabetes mellitus, Progressive cerebellar ataxia, Pr... |
OMIM:210740 |
| Global Developmental Delay With Speech And Behavioral Abnormalities |
|
Precocious puberty, Cryptorchidism, Supernumerary nipple |
OMIM:619243 |
| Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Fatigue, Weight loss, Hepatosplenomegaly, Panniculitis, Hemophagocytosis, Chills |
ORPHA:86884 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Hip contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, Ankle flex... |
ORPHA:1145 |
| Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Ab... |
OMIM:235200 |
| 46,Xy Complete Gonadal Dysgenesis |
|
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
| Trisomy 18 |
|
Short stature, Cachexia, Cryptorchidism, Growth delay, Intrauterine growth retardation, Abnormal ... |
ORPHA:3380 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Back pain, Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Elevated cir... |
OMIM:167320 |
| 3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Short stature, Abnormal cortical gyration, Abnormality of hair texture, Hypogonadism, Intrauterin... |
ORPHA:79351 |
| Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Fatigue, Hepatic cys... |
ORPHA:400 |
| 46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Eunuchoid habitus, Hypoplasia of penis, Abnormality of the thyroid gland, Obesity, Hypogonadism, ... |
ORPHA:2234 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Neonatal hypoglycemia, Flexion contracture, Leukopenia, Neutropenia, Hepatic steatosis, Thrombocy... |
OMIM:616271 |
| Finnish Upper Limb-Onset Distal Myopathy |
|
Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Mildly elevated creatine kin... |
ORPHA:399086 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Elevated hepatic transaminase, Neoplasm of the pancreas, Broad-based gait, Multiple joint contrac... |
ORPHA:2959 |
| Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level |
ORPHA:95715 |
| Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi... |
OMIM:613027 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Portal hypertension, Myelodysplasia, Thrombocytopenia, Cryptorchidism, Squamous cell carcinoma of... |
OMIM:620365 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Fever, Foamy urine, Proteinuria, Hypertriglyceridemia, Minimal chang... |
ORPHA:567548 |
| Noonan Syndrome 5 |
|
Curly hair, Short stature, Large for gestational age, Sparse eyebrow, Cryptorchidism, Fine hair, ... |
OMIM:611553 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Overweight, Cryptorchidi... |
ORPHA:486815 |
| Lig4 Syndrome |
|
Pancytopenia, Small for gestational age, Myelodysplasia, Cryptorchidism, Acute lymphoblastic leuk... |
OMIM:606593 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Hypoglycemia, Hyperuricemia, Fasting hypoglycemia, Hyperalaninemia, Neonatal hyperbilirubinemia, ... |
ORPHA:348 |
| Spherocytosis, Type 1 |
|
Hyperbilirubinemia |
OMIM:182900 |
| Sea-Blue Histiocytosis |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia |
ORPHA:158029 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Decreased serum bile acid concentration, Hyperbilirubinemia |
OMIM:214950 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hydrocele testis, Hepatomegaly, Hypocholesterolemia |
OMIM:618810 |
| Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Asymptomatic hyperammonemia, Hy... |
OMIM:606762 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Cachexia |
ORPHA:2774 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Leukocyte inclusion bodies, Giant platelets, Macrothrombocytopenia, Neutrophil inclusion bodies, ... |
OMIM:155100 |
| Vipoma |
|
Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Episodic abdominal pain, Neopl... |
ORPHA:97282 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Diabetes mellitus, Elevated circulating creatine kinase concentration, Splenomegaly... |
ORPHA:565612 |
| Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, L... |
ORPHA:470 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Increased serum pyruvate, Macrocytic anemia, Splenomegaly, Hyperprolinemia, Hyperalaninemia, Fail... |
OMIM:619046 |
| Combined Oxidative Phosphorylation Deficiency 18 |
|
Skeletal muscle atrophy, Macrocytic anemia, Increased mitochondrial number, Decreased activity of... |
OMIM:615578 |
| Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:165550 |
| Neonatal Lupus Erythematosus |
|
Elevated hepatic transaminase, Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Spl... |
ORPHA:398124 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... |
OMIM:617760 |
| Elliptocytosis 2 |
|
Neonatal hyperbilirubinemia |
OMIM:130600 |
| Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Anisocytosis, Arthralgia, Hepatic fibrosis, Hypothyroidism, Hypopar... |
ORPHA:231226 |
| Spherocytosis, Type 2 |
|
Hyperbilirubinemia |
OMIM:616649 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Monocytosis, Decreased circulat... |
OMIM:619281 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Metrorrhagia, Precocious puberty, Ovarian neoplasm, Weight loss, Neopla... |
ORPHA:370348 |
| Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyebrow morphology, Sparse scalp hair, Absent facial hair, Abnormality of the pubic hair... |
ORPHA:90368 |
| Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Obesity, Absence of pubertal development, Micro... |
OMIM:610628 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea |
OMIM:277000 |
| Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Brittle hair, Short stature, Hypospadias, Small for gestational age, Failure to thrive in infancy... |
OMIM:618891 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Increased serum bile acid concentration, Hyperbilirubinemia |
OMIM:619685 |
| Atypical Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:2134 |
| Omenn Syndrome |
|
Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphoma, Thyroiditis, Lymphadenopathy, A... |
ORPHA:39041 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Nonketotic hypoglycemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Elevat... |
OMIM:608836 |
| Farber Disease |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Failure to thrive, Intrahepatic cholestas... |
ORPHA:333 |
| Hypotrichosis 12 |
|
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... |
OMIM:615885 |
| Hurler-Scheie Syndrome |
|
Splenomegaly, Hepatomegaly, Abnormality of the tonsils, Hernia |
ORPHA:93476 |
| Pfapa Syndrome |
|
Fatigue, Hepatomegaly, Abdominal pain, Splenomegaly, Weight loss, Lymphadenopathy, Arthralgia |
ORPHA:42642 |
| Brucellosis |
|
Liver abscess, Elevated circulating C-reactive protein concentration, Leukopenia, Abnormality of ... |
ORPHA:1304 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Hyperbilirubinemia |
OMIM:235555 |
| Thyrotoxic Periodic Paralysis |
|
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Decreased urinary potassium, Th... |
ORPHA:79102 |
| Trichothiodystrophy 3, Photosensitive |
|
Brittle hair, Short stature, Bilateral cryptorchidism, Intrauterine growth retardation, Tiger tai... |
OMIM:616395 |
| Congenital Myopathy 20 |
|
Skeletal muscle atrophy, Scapular winging, Elbow contracture, Centrally nucleated skeletal muscle... |
OMIM:620310 |
| Indolent Systemic Mastocytosis |
|
Hepatomegaly, Hematological neoplasm, Splenomegaly, Lymphadenopathy, Increased proportion of CD25... |
ORPHA:98848 |
| Pediatric-Onset Graves Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Puberty and gonadal disorders, Splenomegaly, Jaundic... |
ORPHA:525731 |
| Acute Promyelocytic Leukemia |
|
Fatigue, Pancytopenia, Abdominal pain, Thrombocytopenia, Leukocytosis, Bone pain, Weight loss, Ly... |
ORPHA:520 |
| Menkes Disease |
|
Hypothermia |
OMIM:309400 |
| Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Decreased activity of mitochondrial ATP synthase complex, Elevated circulating creatine kinase co... |
OMIM:609560 |
| Scorpion Envenomation |
|
Fever, Restlessness, Acute pancreatitis, Ketonuria, Ataxia, Elevated circulating aspartate aminot... |
ORPHA:466677 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Absent gallbladder, Failure to thrive, Diabetes mellitus, Ureteral duplication, Inguinal hernia, ... |
OMIM:600001 |
| Precocious Puberty, Central, 1 |
|
Short stature, Elevated circulating luteinizing hormone level, Isosexual precocious puberty, Elev... |
OMIM:176400 |
| Inclusion Body Myositis |
|
Inflammatory myopathy, Rimmed vacuoles |
OMIM:147421 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Adrenal cortical sclerosis, Hepatomegaly, Lymphopenia, Severe B lymphocytopenia, Aplasia of the t... |
OMIM:102700 |
| Occipital Horn Syndrome |
|
Recurrent urinary tract infections, Inguinal hernia, Femoral hernia, Scarring, Gastroparesis, Hia... |
ORPHA:198 |
| Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... |
OMIM:117000 |
| Noonan Syndrome 8 |
|
Curly hair, Short stature, Large for gestational age, Cryptorchidism, Failure to thrive |
OMIM:615355 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diabetes mellitus, Thrombocytopenia, Megaloblastic anemia |
ORPHA:49827 |
| Myopathy, Scapulohumeroperoneal |
|
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Increased connectiv... |
OMIM:616852 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentration, ... |
ORPHA:77293 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
| Good Syndrome |
|
Abnormal leukocyte morphology, Diabetes mellitus, Mediastinal lymphadenopathy, Thrombocytopenia, ... |
ORPHA:169105 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Thrombocytopenia, ... |
OMIM:617021 |
| Ankyloglossia With Or Without Tooth Anomalies |
|
Supernumerary tooth, Ankyloglossia |
OMIM:106280 |
| Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair |
OMIM:129490 |
| Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Impulsivity, Increased body weight, Constipation, Gastroesophageal reflux, Gait disturbance, Atte... |
ORPHA:589905 |
| Congenital Myopathy 1B, Autosomal Recessive |
|
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased conn... |
OMIM:255320 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Hypoglycemia, ... |
OMIM:616026 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Exercise intolerance, Hypoglycemia, Microvesicular hepatic steatos... |
OMIM:611126 |
| Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Impulsivity, Inability to walk, Flexion contracture, Obesity, Gastr... |
OMIM:615547 |
| Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Curly hair, Short stature, Curly eyelashes, Multiple rows of eyelashes, Cryptorchidism, Rhizo-mes... |
ORPHA:163654 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Short stature, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Postnatal growth ret... |
OMIM:616113 |
| Tbck-Related Intellectual Disability Syndrome |
|
Neurogenic bladder, Hyperthyroidism, Decreased response to growth hormone stimulation test, Hypot... |
ORPHA:488632 |
| Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, Ne... |
ORPHA:699 |
| Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Ascites, Anemia |
ORPHA:295 |
| Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Hypoalbuminemia, General... |
ORPHA:171 |
| Myofibrillar Myopathy 11 |
|
Fatigue, Centrally nucleated skeletal muscle fibers, Overweight, Z-band streaming, Calf muscle hy... |
OMIM:619178 |
| Somatostatinoma |
|
Hepatomegaly, Intermittent jaundice, Episodic abdominal pain, Increased circulating cortisol leve... |
ORPHA:97283 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury |
OMIM:612926 |
| Carvajal Syndrome |
|
Woolly hair |
ORPHA:65282 |
| Glycogen Storage Disease Vii |
|
Hyperuricemia, Elevated circulating creatine kinase concentration, Increased total bilirubin |
OMIM:232800 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... |
OMIM:617388 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Pancytopenia, Facial palsy, Splenomegaly, Thrombocytopenia, Hypocalcemia, Facial pa... |
OMIM:259700 |
| Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Arthralgia, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, H... |
ORPHA:231214 |
| Acquired Purpura Fulminans |
|
Elevated circulating C-reactive protein concentration, Neoplasm, Hepatic failure, Gangrene, Acroc... |
ORPHA:49566 |
| Naxos Disease |
|
Woolly hair, Sparse scalp hair, Curly hair, Abnormality of hair texture |
ORPHA:34217 |
| Dend Syndrome |
|
Hyperglycemia, Vomiting |
ORPHA:79134 |
| Nodular Non-Suppurative Panniculitis |
|
Hepatomegaly, Abdominal pain, Splenomegaly, Weight loss, Panniculitis, Arthralgia, Myalgia |
ORPHA:33577 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Fatigue, Exercise intolerance, Skeletal muscle atrophy, Elevated circulating creatine kinase conc... |
OMIM:615418 |
| Fetal Hydantoin Syndrome |
|
Bifid scrotum, Short stature, Cryptorchidism, Low posterior hairline, Coarse hair, Intrauterine g... |
ORPHA:1912 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Night sweats, Hypereosinophi... |
ORPHA:2902 |
| Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m... |
ORPHA:248 |
| Renal Hypodysplasia/Aplasia 1 |
|
Bicornuate uterus, Vaginal atresia, Primary amenorrhea |
OMIM:191830 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Partial development of the penile shaft, Gastroesophageal reflux, Hypothermia |
OMIM:608800 |
| Congenital Myopathy 6 With Ophthalmoplegia |
|
Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Type 1 muscle ... |
OMIM:605637 |
| Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Small for gestational age, Abnormal immunoglobulin level, Bilateral cryptorchidism,... |
OMIM:242900 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Reticulocytosis, Facial palsy, Splenomegaly, Thrombocytopenia, Anemia |
OMIM:611490 |
| Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Abdominal pain, Microangiopathic hemolytic anemia, Decreased serum creatinine, T... |
ORPHA:54057 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Omphalocele, Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic ane... |
OMIM:243150 |
| Cinca Syndrome |
|
Fatigue, Hepatomegaly, Abnormality of thrombocytes, Elevated circulating C-reactive protein conce... |
ORPHA:1451 |
| Central Core Disease |
|
Multiple joint contractures, Elevated circulating creatine kinase concentration, Myopathy, Abnorm... |
ORPHA:597 |
| Immunodeficiency 87 And Autoimmunity |
|
Elevated circulating C-reactive protein concentration, Abnormal lymphocyte proliferation, Hepatic... |
OMIM:619573 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury |
OMIM:612924 |
| Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Conjugated hyperbilirubinemia |
OMIM:619484 |
| Hypotrichosis With Juvenile Macular Degeneration |
|
Sparse scalp hair, Brittle hair, Short stature, Fine hair, Pili torti |
ORPHA:1573 |
| Noonan Syndrome 6 |
|
Curly hair, Short stature, Long eyebrows, Cryptorchidism, Low posterior hairline, Growth delay, S... |
OMIM:613224 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Exercise intolerance, Flexion contracture, Ragged-red muscle fibers, Decreased activity of mitoch... |
OMIM:252011 |
| Niemann-Pick Disease, Type A |
|
Hepatomegaly, Skeletal muscle atrophy, Elevated circulating aspartate aminotransferase concentrat... |
OMIM:257200 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... |
ORPHA:98905 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Diabetes mellitus, Thiamine-responsive megaloblastic anemia, Cryptorchidism... |
OMIM:249270 |
| Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy, Eleva... |
OMIM:607855 |
| Oculopharyngodistal Myopathy 2 |
|
Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscle, Increas... |
OMIM:618940 |
| Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system, Cleft palate |
OMIM:257910 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Elevated circulating c... |
OMIM:254110 |
| Galactose Epimerase Deficiency |
|
Growth delay, Weight loss |
ORPHA:79238 |
| Ebola Hemorrhagic Fever |
|
Acute pancreatitis, Abdominal pain, Hepatitis, Leukopenia, Arthralgia, Recurrent singultus, Chest... |
ORPHA:319218 |
| Myopathy, Distal, 3 |
|
Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contracture of the han... |
OMIM:610099 |
| Cutis Laxa, Autosomal Recessive, Type Iia |
|
Failure to thrive, Brittle hair, Abnormality of hair texture, Coarse hair, Intrauterine growth re... |
OMIM:219200 |
| Ectodermal Dysplasia 7, Hair/Nail Type |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... |
OMIM:614929 |
| Oculopharyngeal Muscular Dystrophy |
|
Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology, Ragged-red ... |
ORPHA:270 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Hyperbilirubinemia |
OMIM:235700 |
| Muckle-Wells Syndrome |
|
Hepatomegaly, Camptodactyly of finger, Abdominal pain, Splenomegaly, Arthralgia, Myalgia, Delayed... |
ORPHA:575 |
| Q Fever |
|
Elevated hepatic transaminase, Hepatomegaly, Fatigue, Splenomegaly, Thrombocytopenia, Night sweat... |
ORPHA:781 |
| Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
| Bacterial Toxic-Shock Syndrome |
|
Pain, Fasciitis, Myositis, Elevated circulating creatine kinase concentration, Abscess, Abdominal... |
ORPHA:36234 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... |
OMIM:619658 |
| Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
ORPHA:234 |
| Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... |
OMIM:613573 |
| Hair Defect With Photosensitivity And Mental Retardation |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair |
OMIM:234030 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... |
ORPHA:399058 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth... |
OMIM:613239 |
| Caroli Syndrome |
|
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho... |
ORPHA:480520 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:301081 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Muscle fiber inclusion bodies, Elevated circulating creatine kinase concentration, Centrally nucl... |
OMIM:615424 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Inguinal hernia, Biliary tract abnormality, Type II diabetes mellitus, Obesity |
ORPHA:3191 |
| Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Hyperlipidemia, Lymphadenopathy, Hemophagocyt... |
ORPHA:79477 |
| Chromosome Xp11.23-P11.22 Duplication Syndrome |
|
Medial flaring of the eyebrow, Precocious puberty, Synophrys, Low posterior hairline, Thick eyebrow |
OMIM:300801 |
| Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Decreased circulating cortisol level, Arthralgia, Hashimoto thyroiditis, Hypon... |
ORPHA:199299 |
| Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Sideroblastic anemia, Pancreatic ... |
OMIM:557000 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Cholelithiasis, Small for gestational age, Hypothermia |
OMIM:618775 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Hyperbilirubinemia |
ORPHA:713 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Hyperactivity, Diabetes mellitus, Hypospadias, Obesity, Congenital hypothyroidism |
OMIM:614613 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... |
OMIM:201810 |
| Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia |
OMIM:615008 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating IgG level, Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocyt... |
OMIM:616100 |
| X-Linked Creatine Transporter Deficiency |
|
Short stature, Cachexia |
ORPHA:52503 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Increased total bilirubin |
ORPHA:90037 |
| Aicardi-Goutières Syndrome |
|
Elevated hepatic transaminase, Enchondroma, Myositis, Multiple joint contractures, Lipoatrophy, D... |
ORPHA:51 |
| Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
|
Postnatal growth retardation, Sparse scalp hair, Fine hair |
ORPHA:2324 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
| Marbach-Rustad Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Insulin resistance |
OMIM:619322 |
| Hypothyroidism, Central, With Testicular Enlargement |
|
Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra... |
OMIM:300888 |
| Alstrom Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Chronic active hepatitis, Hyper... |
OMIM:203800 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu... |
OMIM:314050 |
| Myopathy With Lactic Acidosis, Hereditary |
|
Exercise intolerance, Sideroblastic anemia, Skeletal muscle atrophy, Elevated circulating creatin... |
OMIM:255125 |
| Platelet Signal Processing Defect |
|
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... |
OMIM:173590 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Thrombocytopenia, Patent ductus arteriosus, Flexion contracture, Hepatosplenomegaly, Leukopenia, ... |
ORPHA:505248 |
| Congenital Myopathy 8 |
|
Internally nucleated skeletal muscle fibers, Cardiomegaly, Increased variability in muscle fiber ... |
OMIM:618654 |
| Chédiak-Higashi Syndrome |
|
Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremia, Hepat... |
ORPHA:167 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, T... |
ORPHA:494444 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... |
OMIM:225060 |
| Liver Failure, Infantile, Transient |
|
Hypoalbuminemia, Hyperbilirubinemia |
OMIM:613070 |
| Intermediate Osteopetrosis |
|
Back pain, Hepatosplenomegaly, Anemia, Hypocalcemia, Thrombocytopenia |
ORPHA:210110 |
| Cystinosis, Nephropathic |
|
Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri... |
OMIM:219800 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Ascites, Decrease... |
OMIM:608013 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Generalized amyotrophy, Abnormal mitochondrial morphology |
ORPHA:275872 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Salt craving, Ataxia, Polyuria, Renal salt wasting, Enuresis, Dysdiadochokinesis, Hyperaldosteron... |
OMIM:612780 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Myopathy, Limb... |
OMIM:612937 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Abnormal circulating acylcarnitine concentr... |
ORPHA:71212 |
| Intestinal Dysmotility Syndrome |
|
Failure to thrive, Weight loss |
OMIM:620045 |
| Cryptogenic Organizing Pneumonia |
|
Fatigue, Cyanosis, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocyto... |
ORPHA:1302 |
| Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Leukopenia, Hypocalcemia, Lymphocytosis, Elevated hepatic iron... |
OMIM:619991 |
| Glycogen Storage Disease Ixd |
|
Exercise intolerance, Skeletal muscle atrophy, Hypoglycemia, Elevated circulating creatine kinase... |
OMIM:300559 |
| Denys-Drash Syndrome |
|
True hermaphroditism, Septate vagina, Gonadal tissue inappropriate for external genitalia or chro... |
OMIM:194080 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Abnormality of thrombocytes, Splenomegaly, Leukocytos... |
OMIM:612840 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hypoglycemia, Hyperinsulinemia |
OMIM:606528 |
| Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Foot dorsiflexor weakness, Abnormal dens... |
OMIM:214500 |
| Fowler Urethral Sphincter Dysfunction Syndrome |
|
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Hirsutism, Amenorrhea |
ORPHA:2795 |
| Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Nail dystrophy, Trichodysplasia, Congen... |
ORPHA:2890 |
| Hermansky-Pudlak Syndrome 2 |
|
Hepatomegaly, Absent platelet dense granules, Reduced natural killer cell activity, Splenomegaly,... |
OMIM:608233 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Small for gestational age, Megaloblastic anem... |
OMIM:277380 |
| Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Scapular winging, Elevated circulating creatine kinase concentration, Facial palsy, Generalized w... |
ORPHA:353327 |
| Congenital Bile Acid Synthesis Defect Type 3 |
|
Hyperbilirubinemia |
ORPHA:79302 |
| Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Obesity... |
ORPHA:77296 |
| Hereditary Central Diabetes Insipidus |
|
Growth delay, Diabetes insipidus, Weight loss |
ORPHA:30925 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Skeletal muscle atrophy, Hypoglycemia, Generalized amyotrophy, Thrombocytopenia, Limb hypertonia |
OMIM:617710 |
| Immunodeficiency 31C |
|
Fatigue, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hem... |
OMIM:614162 |
| Attrv30M Amyloidosis |
|
Impotence, Weight loss |
ORPHA:85447 |
| Trichodental Dysplasia |
|
Sparse hair, Brittle hair, Slow-growing hair, Fine hair |
OMIM:601453 |
| Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Myopathy, Autophagic vacuoles, Elevated circulating creatine kinase concentration |
OMIM:609500 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia,... |
OMIM:619418 |
| Marie Unna Hereditary Hypotrichosis |
|
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... |
ORPHA:444 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Neoplasm of the adrenal cortex, Short stature, Cachexia, Thyroid carcinoma, Hashimoto thyroiditis... |
ORPHA:109 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Inguinal hernia, Ketonuria, Hypoglycemia, Small for gestational age, Hypospadias, Increased hepat... |
OMIM:220111 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Decreased mean p... |
OMIM:617718 |
| Hypermanganesemia With Dystonia 1 |
|
Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirubinemia |
OMIM:613280 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Myelodysplasia, Thrombocytopenia |
OMIM:252270 |
| Bazex-Dupré-Christol Syndrome |
|
Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor... |
ORPHA:113 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Cachexia |
ORPHA:93941 |
| Idiopathic Hypereosinophilic Syndrome |
|
Skeletal muscle atrophy, Generalized lymphadenopathy, Cholangitis, Arthralgia, Neutrophilia, Myel... |
ORPHA:3260 |
| Seckel Syndrome |
|
Intrauterine growth retardation, Short stature, Sparse scalp hair, Cachexia |
ORPHA:808 |
| Immunodeficiency 60 And Autoimmunity |
|
Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased... |
OMIM:618394 |
| Congenital Myopathy 10B, Mild Variant |
|
Elbow contracture, Elevated circulating creatine kinase concentration, Fatty replacement of skele... |
OMIM:620249 |
| Rapp-Hodgkin Syndrome |
|
Sparse eyelashes, Short stature, Supernumerary nipple, Slow-growing hair, Sparse eyebrow, Hypospa... |
OMIM:129400 |
| Lig4 Syndrome |
|
Hepatomegaly, Pancytopenia, Cryptorchidism, Leukocytosis, Lymphoma, Lymphadenopathy, Acute leukem... |
ORPHA:99812 |
| Aicardi-Goutieres Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes insipidus, Splenomegaly, Prolonged neonatal... |
OMIM:225750 |
| Microsporidiosis |
|
Cachexia, Abnormality of the parathyroid gland, Thyroiditis, Abnormal endometrium morphology, Wei... |
ORPHA:2552 |
| Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Small for gestational age, Hypergonadotropic hypogonadism, Thrombocytopenia, Crypto... |
OMIM:227645 |
| Syndromic Diarrhea |
|
Hepatomegaly, Inguinal hernia, Small for gestational age, Increased mean platelet volume, Splenom... |
ORPHA:84064 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Impaired glucose tolerance, Pituitary adenoma, Nephrolithiasis, Obesity, Increased circulating AC... |
OMIM:219090 |
| Palmoplantar Keratoderma And Woolly Hair |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair |
OMIM:616099 |
| Rett Syndrome |
|
Short stature, Cachexia |
OMIM:312750 |
| Thyrocerebrorenal Syndrome |
|
Euthyroid goiter, Thrombocytopenia, Abnormality of the musculature of the limbs |
ORPHA:3327 |
| Aregenerative Anemia |
|
Fatigue, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypo... |
ORPHA:101096 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... |
OMIM:619662 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Anemia |
OMIM:616176 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Exercise intolerance, Decreased mitochondrial number, Hypergonadotropic hypogonadism, Elevated ci... |
ORPHA:352447 |
| Myopathy, Distal, Tateyama Type |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating creatine kina... |
OMIM:614321 |
| Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H... |
OMIM:301068 |
| Duplication Of Urethra |
|
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... |
ORPHA:237 |
| Congenital Myopathy 3 With Rigid Spine |
|
Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variabil... |
OMIM:602771 |
| Septopreoptic Holoprosencephaly |
|
Precocious puberty, Anterior hypopituitarism, Central diabetes insipidus, Perisylvian polymicrogyria |
ORPHA:280195 |
| Dengue Fever |
|
Hepatomegaly, Abdominal pain, Leukopenia, Arthralgia, Ascites, Hypoproteinemia, Thrombocytopenia |
ORPHA:99828 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Alopecia, Hyperthyroidism, Failure to thrive in infancy, Cachexia, Abnormality of the endocrine s... |
ORPHA:37042 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... |
OMIM:615595 |
| Sarcoidosis |
|
Fever, Hepatomegaly, Renal insufficiency, Hyperthyroidism, Diabetes insipidus, Scarring, Portal h... |
ORPHA:797 |
| Fryns-Smeets-Thiry Syndrome |
|
Short stature, Cachexia |
ORPHA:2058 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Facial palsy, Splenomegaly, Leukocytosi... |
OMIM:259720 |
| Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Lymphopenia, Diabetes mellitus, Female hypogonadism, Elevated ci... |
OMIM:208900 |
| Late-Onset Familial Hypoaldosteronism |
|
Abnormal external genitalia, Postnatal growth retardation, Abnormal circulating corticosterone le... |
ORPHA:556037 |
| Ameloonychohypohidrotic Syndrome |
|
Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... |
OMIM:104570 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Anuria, Peritonitis, Diarrhea, Bloody diarrhea, Hemoglobinuria, Vomiting, Acute kidney injury, Pa... |
ORPHA:90038 |
| Senior-Loken Syndrome 4 |
|
Polydipsia, Stage 5 chronic kidney disease, Polyuria, Nephronophthisis |
OMIM:606996 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hyperparathyroidism, Renal salt wasting, Nephrocalcinosis, Vomiting, Increased circulating renin ... |
OMIM:601678 |
| Undifferentiated Pleomorphic Sarcoma |
|
Weight loss |
ORPHA:2023 |
| Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Increased serum pyruvate, Myopathy, Ragged-red muscle fibers |
OMIM:545000 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Conjugated hyperbilirubinemia, Glycosuria |
OMIM:613404 |
| Gaisböck Syndrome |
|
Fatigue, Hypertriglyceridemia, Diabetes mellitus, Overweight, Splenomegaly, Increased mean corpus... |
ORPHA:90041 |
| Oculopharyngodistal Myopathy 3 |
|
Internally nucleated skeletal muscle fibers, Elevated circulating creatine kinase concentration, ... |
OMIM:619473 |
| Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Thrombocytopenia, Bone pain, Multiple my... |
OMIM:230800 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat... |
OMIM:187800 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... |
ORPHA:99889 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Scapular winging, Elevated circulating creatine kinase concentration, Quadriceps muscle weakness,... |
OMIM:603689 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
| Hereditary Mucoepithelial Dysplasia |
|
Sparse hair, Alopecia, Abnormal morphology of female internal genitalia, Fine hair |
ORPHA:1839 |
| Isovaleric Acidemia |
|
Leukopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:243500 |
| Idiopathic Neonatal Atrial Flutter |
|
Maternal diabetes, Large for gestational age |
ORPHA:45452 |
| Schwartz-Jampel Syndrome |
|
Decreased testicular size, Abnormal eyebrow morphology, Decreased body weight, Short stature, Cac... |
ORPHA:800 |
| Hypotrichosis 6 |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti |
OMIM:607903 |
| Androgen Insensitivity, Partial |
|
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... |
OMIM:312300 |
| Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Conjugated hyperbilirubinemia, Increased circulating very long-chain fatty acid concentration, Mi... |
OMIM:614887 |
| Hereditary Folate Malabsorption |
|
Skeletal muscle atrophy, Pancytopenia, Eosinophilia, Megaloblastic anemia, Decreased circulating ... |
ORPHA:90045 |
| Phosphoglycerate Dehydrogenase Deficiency |
|
Decreased testicular size, Thrombocytopenia, Megaloblastic anemia |
OMIM:601815 |
| Graft Versus Host Disease |
|
Stomatitis, Trismus, Oral ulcer, Hyperbilirubinemia |
ORPHA:39812 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, Jaund... |
OMIM:615631 |
| Malignant Migrating Focal Seizures Of Infancy |
|
Precocious puberty, Failure to thrive |
ORPHA:293181 |
| Bardet-Biedl Syndrome 17 |
|
Polydipsia, Polyuria, Stage 5 chronic kidney disease, Obesity, Renal cyst, Hypogonadism, Micropenis |
OMIM:615994 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
|
Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concentration, Ra... |
OMIM:617069 |
| Immunodeficiency 59 And Hypoglycemia |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:233600 |
| Bartter Syndrome, Type 2, Antenatal |
|
Renal salt wasting, Nephrocalcinosis, Vomiting, Increased circulating renin level, Renal potassiu... |
OMIM:241200 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase conc... |
OMIM:253700 |
| Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating... |
ORPHA:99832 |
| Dpm3-Cdg |
|
Elevated hepatic transaminase, Calf muscle hypertrophy, Chest pain, Muscular dystrophy, Pelvic gi... |
ORPHA:263494 |
| Costello Syndrome |
|
Deep-set nails, Abnormal fingernail morphology, Short stature, Failure to thrive in infancy, Conc... |
ORPHA:3071 |
| Tibial Muscular Dystrophy |
|
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... |
ORPHA:609 |
| Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Reduced muscle collagen VI, Facial palsy, Flexion contracture, Congenital muscular d... |
OMIM:254090 |
| Kikuchi-Fujimoto Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Fatigue, Generalized lymphadenopathy, Elevated circu... |
ORPHA:50918 |
| Myopathy, Myofibrillar, 2 |
|
Elevated circulating creatine kinase concentration, Limb-girdle muscle weakness, Quadriceps muscl... |
OMIM:608810 |
| Common Variable Immunodeficiency |
|
Elevated hepatic transaminase, Hemolytic anemia, Failure to thrive in infancy, Autoimmune thrombo... |
ORPHA:1572 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Th... |
OMIM:613839 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Increased mitochondrial number, Decreased activity of mitochondrial complex IV, Hyperglycinemia |
OMIM:619063 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hypoglycemia, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc, Hypoalbuminemia |
OMIM:617093 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Alopecia, Brittle hair, Short stature, Abnormality of the anterior pituitary, Coarse hair, Poster... |
ORPHA:75389 |
| Mogs-Cdg |
|
Hepatomegaly, Inappropriate antidiuretic hormone secretion, Cardiomegaly, Hepatosplenomegaly, Hyd... |
ORPHA:79330 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Increase... |
OMIM:617066 |
| Glucagonoma |
|
Hepatomegaly, Acanthocytosis, Intermittent jaundice, Episodic abdominal pain, Increased circulati... |
ORPHA:97280 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Hepatomegaly, Skeletal muscle atrophy, Limb joint contracture, Splenomegaly, Micronodular cirrhos... |
OMIM:301072 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia, Increased circulating IgA level |
OMIM:314000 |
| Early-Onset Familial Hypoaldosteronism |
|
Abnormal external genitalia, Postnatal growth retardation, Abnormal circulating corticosterone le... |
ORPHA:556030 |
| Spinal Muscular Atrophy, Type Iv |
|
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... |
OMIM:271150 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hyperbilirubinemia |
OMIM:616689 |
| Caroli Disease |
|
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Hepatic fibrosis, Chills, Hepatomegaly... |
ORPHA:53035 |
| Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c... |
OMIM:205400 |
| Combined Oxidative Phosphorylation Defect Type 27 |
|
Decreased activity of mitochondrial complex IV, Ragged-red muscle fibers, Decreased activity of m... |
ORPHA:477774 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Back pain, Scapular winging, Elevated circulating creatine kinase concentration, Centrally nuclea... |
OMIM:618129 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, Oropharyngeal squamous cell carcinoma, Autoimmune thrombocytopenia, ... |
ORPHA:391487 |
| Zebra Body Myopathy |
|
Torticollis, Autophagic vacuoles, Facial palsy, Elevated circulating creatine kinase concentratio... |
ORPHA:97240 |
| Castleman Disease |
|
Fatigue, Generalized lymphadenopathy, Abdominal mass, Elevated circulating C-reactive protein con... |
ORPHA:160 |
| Myopathy, Sarcoplasmic Body |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ... |
OMIM:620286 |
| Autoimmune Hepatitis |
|
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Chronic fatigue, Abdom... |
ORPHA:2137 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Elevated circulating creati... |
OMIM:615895 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Uterine prolapse, Broad-based gait, Hypothermia, Abnormality of the endocrine system, Inability t... |
ORPHA:438213 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Elevated circulating creatine kinase concentration, Abdominal pain, Centrally nucleated skeletal ... |
ORPHA:86812 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Hypospadias, Decreased response to growth hormone stimulation test, Obesity, Horseshoe kidney, Ga... |
ORPHA:444077 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Steatorrhea, Failure to th... |
OMIM:612714 |
| Noonan Syndrome 9 |
|
Sparse eyebrow, Curly hair, Short stature, Cryptorchidism |
OMIM:616559 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Leukopenia, Hepatic fibrosis, Bone marrow hypocellularity, Neutrop... |
OMIM:613989 |
| Congenital Analbuminemia |
|
Fatigue, Lipodystrophy, Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globu... |
ORPHA:86816 |
| Dystonia 28 |
|
Precocious puberty, Hypothyroidism, Short stature |
ORPHA:589618 |
| Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... |
OMIM:615387 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Increased total bilirubin |
ORPHA:90036 |
| Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Abnormal dental enamel morphology, Portal hypertension, Splenomegaly, Scarring alop... |
ORPHA:59303 |
| Snakebite Envenomation |
|
Hyponatremia, Rhabdomyolysis, Muscle fiber necrosis, Pain, Hypopituitarism, Thrombocytopenia |
ORPHA:449285 |
| Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Curly hair, Hypospadias, Large for gestational age, Cryptorchidism, Polymicrogyria |
ORPHA:457485 |
| Celiac Disease, Susceptibility To, 1 |
|
Alopecia, Short stature, Postnatal growth retardation, Thyroiditis, Weight loss, Infertility, Del... |
OMIM:212750 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Acute monocytic leukemia, Myelodysplasia, Lymphoma, Neuroblastoma, Impair... |
OMIM:601399 |
| Addison Disease |
|
Hypoparathyroidism, Decreased circulating cortisol level, Primary testicular failure, Premature o... |
ORPHA:85138 |
| Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopenia, Thrombo... |
OMIM:231200 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Myelodysplasia, Microcytic anemia, Hypersplenism, Splenome... |
ORPHA:846 |
| Renal Tubular Dysgenesis |
|
Renotubular dysgenesis, Abnormality of the urinary system, Anuria |
OMIM:267430 |
| Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Large for gestational age, Splenomegaly, Obesity, Decreased circulating antibody le... |
OMIM:605309 |
| Infantile Krabbe Disease |
|
Failure to thrive, Cachexia |
ORPHA:206436 |
| Combined Oxidative Phosphorylation Deficiency 40 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618835 |
| Chronic Hiccup |
|
Weight loss |
ORPHA:396 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Rhabdomyolysis, Skeletal muscle atrophy, Ragged-red muscle fibers, Elevated circulating creatine ... |
OMIM:617070 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Myelodysplasia, Thrombocytopenia, Hepatic necrosis, Leukopenia, Increased mean c... |
OMIM:127550 |
| Combined Oxidative Phosphorylation Deficiency 42 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618839 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Thrombocytopenia, Failure to thrive, Absent circulating B cells |
OMIM:619693 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia |
OMIM:603585 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Nail-biting, Fasciitis, Hyperactivity, Unexplained fevers, Impulsivity, Hypothermia, Chronic kidn... |
ORPHA:642 |
| Stormorken Syndrome |
|
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Thrombocytopen... |
OMIM:185070 |
| Cardiofaciocutaneous Syndrome 3 |
|
Curly hair, Failure to thrive, Short stature |
OMIM:615279 |
| Glycosylphosphatidylinositol Biosynthesis Defect 25 |
|
Sparse hair, Coarse hair, Short stature |
OMIM:619985 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Highly arched eyebrow, Cryptorchidism, Low anterior hairline, Hirsutism, Simplified gyral pattern... |
OMIM:619244 |
| 2P15P16.1 Microdeletion Syndrome |
|
Supernumerary nipple, Sparse eyebrow, Fine hair, Growth delay, Long eyelashes, Hypogonadism, Intr... |
ORPHA:261349 |
| Cardiofaciocutaneous Syndrome 2 |
|
Sparse hair, Curly hair, Absent eyebrow, Fine hair |
OMIM:615278 |
| Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Optic disc coloboma, Remnants of the hyaloid vascular system, Chorioretinal ... |
OMIM:120200 |
| Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Scap... |
OMIM:608358 |
| Yellow Fever |
|
Fever, Acute pancreatitis, Anuria, Renal insufficiency, Elevated circulating aspartate aminotrans... |
ORPHA:99829 |
| Combined Oxidative Phosphorylation Deficiency 49 |
|
Exercise intolerance, Elevated circulating creatine kinase concentration, Decreased activity of m... |
OMIM:619024 |
| Hypercalcemia, Infantile, 2 |
|
Polyuria, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Failure to thrive, Medullary... |
OMIM:616963 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin resistance, Flexion contracture, Hyperlipidemia |
ORPHA:90153 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Increased mitochondrial number, Diabetes mellitus, Decreased muscle mass, Decreased muscle glycog... |
ORPHA:263297 |
| Pancreatic Lipase Deficiency |
|
Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
| Tick-Borne Encephalitis |
|
Elevated hepatic transaminase, Back pain, Fatigue, Skeletal muscle atrophy, Facial palsy, Elevate... |
ORPHA:297 |
| Congenital Myopathy 4A, Autosomal Dominant |
|
Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, Type 1 fibers r... |
OMIM:255310 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Cachexia |
ORPHA:300605 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia |
OMIM:601847 |
| Tufted Angioma |
|
Thrombocytopenia, Neoplasm of the skin, Pain, Hemangioma of the lip, Anemia, Facial hemangioma |
ORPHA:1063 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Overweight, Hypercholesterolemia, Type II diabetes mellitus, Renovascular hypertension |
ORPHA:401923 |
| Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Hypoplastic thumbnail, Hypoplastic toenails, Hypoplastic fifth fingernail, Precocious puberty, Ab... |
OMIM:619356 |
| Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Anemia, Neoplasm, Bone marrow hypocellularity, Failure to thrive, ... |
ORPHA:3322 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Conjugated hyperbilirubinemia |
OMIM:211600 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Precocious puberty, Decreased body weight |
OMIM:300958 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Sparse body hair, Sp... |
OMIM:602400 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Elevated hepatic transaminase, Eosinophilia, Hepatitis, Thyroiditis, Weigh... |
ORPHA:139402 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
Exercise intolerance, EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy |
OMIM:609283 |
| Spastic Paraplegia-Precocious Puberty Syndrome |
|
Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
| Thrombocythemia 1 |
|
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... |
OMIM:187950 |
| Thymic Neuroendocrine Tumor |
|
Pituitary null cell adenoma, Pancreatic islet cell adenoma, Neoplasm of the thymus, Pituitary ade... |
ORPHA:97289 |
| Lathosterolosis |
|
Thick upper lip vermilion, Micrognathia, Gingival overgrowth, Abnormal circulating cholesterol co... |
OMIM:607330 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Diabetes mellitus, Increased circulating thyroglobulin level, Portal hypertension, ... |
OMIM:610199 |
| Radio-Tartaglia Syndrome |
|
Thick eyebrow, Highly arched eyebrow, Long eyebrows, Precocious puberty, Synophrys, Low anterior ... |
OMIM:619312 |
| Nijmegen Breakage Syndrome |
|
Abnormal hair quantity, Short stature, Cachexia, Abnormal hair morphology, Low anterior hairline,... |
ORPHA:647 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Exercise intolerance, Hepatomegaly, Skeletal muscle atrophy, Cyanosis, Hypoglycemia, Splenomegaly... |
OMIM:252010 |
| Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Polyuria, Hypercalciuria, Hyperaldosteronism, Polydipsia, Decreased circulat... |
OMIM:613677 |
| Cockayne Syndrome |
|
Dry hair, Severe short stature, Diabetes mellitus, Cachexia, Postnatal growth retardation, Crypto... |
ORPHA:191 |
| Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly... |
OMIM:611881 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Short stature, Simplified gyral pattern, Microlissencephaly, Hypoplasia of the uterus, Intrauteri... |
OMIM:617914 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... |
OMIM:613673 |
| Rhabdomyolysis, Susceptibility To, 1 |
|
Exercise intolerance, Elevated circulating creatine kinase concentration, Centrally nucleated ske... |
OMIM:620235 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Skeletal muscle atrophy, Microvesicular hepatic steatosis, Decreased activ... |
OMIM:256810 |
| Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
| Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Abnormality of neutrophils, Splenomega... |
ORPHA:1775 |
| Mannosidosis, Alpha B, Lysosomal |
|
Hepatomegaly, Inguinal hernia, Splenomegaly, Vacuolated lymphocytes, Decreased circulating antibo... |
OMIM:248500 |
| Sotos Syndrome |
|
Tall stature, Abnormality of the kidney, Aggressive behavior, Increased body weight, Glucose into... |
OMIM:117550 |
| Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Thrombocytopenia, Hyperammonemia, Hyperglycin... |
OMIM:251110 |
| Myopathy, X-Linked, With Excessive Autophagy |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Flexion contracture,... |
OMIM:310440 |
| 48,Xxxy Syndrome |
|
Hypoplasia of penis, Inguinal hernia, Abnormal dental enamel morphology, Obesity, Gastroesophagea... |
ORPHA:96263 |
| Smith-Lemli-Opitz Syndrome |
|
Hepatomegaly, Facial capillary hemangioma, Precocious puberty, Splenomegaly, Cryptorchidism, Pate... |
OMIM:270400 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Elevated transferrin saturation, Increased circulating ferritin conce... |
OMIM:615234 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Fatigue, Decreased circulating cortisol level, Severe B lymphocytopenia, Decreased ... |
ORPHA:293978 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Abdominal pain, Asplenia, Splenomegaly, Splenic infarction, Hypo... |
ORPHA:251380 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Postnatal growth retardation, Cryptorchidism, Pancreatic lymphangiectasis, Abnormality of the ute... |
ORPHA:1655 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, M... |
OMIM:619518 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Failure to thrive in infancy, Thrombocytopenia, Cryptorchidism, Giant platelets, Camptodactyly, L... |
OMIM:611209 |
| Alström Syndrome |
|
Urinary incontinence, Decreased response to growth hormone stimulation test, Functional abnormali... |
ORPHA:64 |
| 19P13.12 Microdeletion Syndrome |
|
Hypospadias, Precocious puberty, Cryptorchidism, Synophrys, Obesity, Intrauterine growth retardat... |
ORPHA:254346 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Decreased circulating antibody level |
OMIM:616576 |
| Woolly Hair, Autosomal Dominant |
|
Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Coarse hai... |
OMIM:194300 |
| Mckusick-Kaufman Syndrome |
|
Short stature, Cryptorchidism, Hydrometrocolpos, Glandular hypospadias, Failure to thrive, Urogen... |
ORPHA:2473 |
| Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities |
|
Muscle fiber atrophy, Failure to thrive, Flexion contracture, Elevated circulating creatine kinas... |
OMIM:620240 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Diabetes mellitus, Septate vagina, Uterus didelphys, Parathyroid hypoplasia, ... |
ORPHA:2237 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Inguinal hernia, Hydrocele testis, Increased serum testosterone level, Congenital adrenal hyperpl... |
ORPHA:96181 |
| Hall-Riggs Syndrome |
|
Short stature, Thick hair, Slow-growing hair, Coarse hair, Failure to thrive |
ORPHA:2107 |
| Kaposiform Lymphangiomatosis |
|
Exercise intolerance, Pancreatic cysts, Splenomegaly, Thrombocytopenia, Abnormality of the lympha... |
ORPHA:464329 |
| Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
| Tenorio Syndrome |
|
Macroglossia, Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
| Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
| Hirschsprung Disease |
|
Neoplasm of the thyroid gland, Short stature, Failure to thrive in infancy, Weight loss |
ORPHA:388 |
| Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal... |
OMIM:619755 |
| Cushing Disease |
|
Increased urinary cortisol level, Diabetes mellitus, Dorsocervical fat pad, Paradoxical increased... |
ORPHA:96253 |
| Intrahepatic Cholestasis Of Pregnancy |
|
Increased serum bile acid concentration, Hyperbilirubinemia |
ORPHA:69665 |
| Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
| Camptobrachydactyly |
|
Hypoplastic toenails, Abnormal fingernail morphology, Septate vagina |
ORPHA:1319 |
| Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Chronic pan... |
ORPHA:98908 |
| Angelman Syndrome Due To A Point Mutation |
|
Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, Obesity, Gait imbalance, In... |
ORPHA:411511 |
| Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Failure to thrive, Thrombocytopenia |
OMIM:616577 |
| Marinesco-Sjogren Syndrome |
|
Skeletal muscle atrophy, Hypergonadotropic hypogonadism, Elevated circulating creatine kinase con... |
OMIM:248800 |
| Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
| Bethlem Myopathy |
|
Scapular winging, Multiple joint contractures, Reduced muscle collagen VI, Interphalangeal joint ... |
ORPHA:610 |
| Osteopetrosis, Autosomal Dominant 3 |
|
Fatigue, Hepatomegaly, Hyperparathyroidism, Splenomegaly, Asthenia, Anemia |
OMIM:618107 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233690 |
| Dehydrated Hereditary Stomatocytosis |
|
Portal vein thrombosis, Polycythemia, Congenital hemolytic anemia, Abnormal blood potassium conce... |
ORPHA:3202 |
| Lysinuric Protein Intolerance |
|
Hepatomegaly, Skeletal muscle atrophy, Hypolysinemia, Splenomegaly, Increased circulating ferriti... |
OMIM:222700 |
| Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Hepatic failure, Hypoglycemia, Hyperammonemia |
ORPHA:664 |
| Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Reticulocytosis, Scarring, Anisocytosis, Increased connective tissue, Splenomeg... |
ORPHA:79277 |
| Spastic Paraplegia 29, Autosomal Dominant |
|
Neonatal hyperbilirubinemia |
OMIM:609727 |
| Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Increased variability in muscle fiber diameter, Weakness of facial musculature, Increased endomys... |
OMIM:620265 |
| Mccune-Albright Syndrome |
|
Hyperplasia of the Leydig cells, Hyperthyroidism, Macroorchidism, Elevated circulating growth hor... |
ORPHA:562 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Hypergonadotropic hypogonadism, Camptodactyly of finger, Decreased response to grow... |
OMIM:602782 |
| Braddock-Carey Syndrome 1 |
|
Enamel hypoplasia, Thrombocytopenia, Camptodactyly |
OMIM:619980 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Facial paralysis, Thrombo... |
OMIM:259710 |
| Congenital Myopathy 22A, Classic |
|
Fatigue, Hip contracture, Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles ... |
OMIM:620351 |
| Gaucher Disease |
|
Fatigue, Hepatomegaly, Pancytopenia, Elevated circulating C-reactive protein concentration, Abdom... |
ORPHA:355 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... |
OMIM:613812 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Sparse hair, Coarse hair, Brittle hair, Short stature |
ORPHA:1883 |
| Pseudo-Torch Syndrome 3 |
|
Cardiomegaly, Increased circulating ferritin concentration, Leukocytosis, Lymphadenitis, Congenit... |
OMIM:618886 |
| Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... |
ORPHA:34516 |
| Renal Nutcracker Syndrome |
|
Dyspareunia, Dysmenorrhea, Vulval varicose vein, Weight loss, Infertility, Varicocele |
ORPHA:71273 |
| Zika Virus Disease |
|
Increased circulating IgM level, Arthralgia, Myalgia, Thrombocytopenia |
ORPHA:448237 |
| Pediatric Systemic Lupus Erythematosus |
|
Myositis, Abdominal pain, Lymphadenopathy, Leukopenia, Ascites, Chest pain, Arthralgia, Microangi... |
ORPHA:93552 |
| Laing Early-Onset Distal Myopathy |
|
Toe extensor amyotrophy, Abnormality of the calf musculature, Proximal muscle weakness in lower l... |
ORPHA:59135 |
| Septo-Optic Dysplasia Spectrum |
|
Hypoplasia of penis, Anterior pituitary hypoplasia, Maternal diabetes, Obesity, Constipation, Pol... |
ORPHA:3157 |
| Aneurysm Of Sinus Of Valsalva |
|
Oliguria |
ORPHA:1054 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Elevated circulating creatine kinase concentration, Quadriceps muscle weakness, Ragged-red muscle... |
ORPHA:254892 |
| Classic Multiminicore Myopathy |
|
Absent muscle fiber merosin, Multiple joint contractures, Increased muscle lipid content, General... |
ORPHA:324604 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Elevated circulating aspartate amin... |
OMIM:619525 |
| Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Distal lower limb amyotrophy, Thenar muscle atrophy, Mitochondrial hypertrophy, Decreased activit... |
OMIM:500013 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Left ventricular hypertrophy, Myopathy, Diabetes mellitus, Ragged-red muscle fibers |
OMIM:540000 |
| Wolfram Syndrome 1 |
|
Sideroblastic anemia, Diabetes mellitus, Diabetes insipidus, Megaloblastic anemia, Hypothyroidism... |
OMIM:222300 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Bone marrow hypocellularity, Cirrhosis, Testicular atrophy, Thrombocytopenia |
OMIM:613987 |
| Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... |
OMIM:301075 |
| Adams-Oliver Syndrome |
|
Portal hypertension, Congenital hepatic fibrosis, Leukopenia, Ascites, Cirrhosis, Failure to thri... |
ORPHA:974 |
| Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant |
|
Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta... |
OMIM:601846 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Limb joint contracture, Small for... |
ORPHA:404454 |
| Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair |
OMIM:104100 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Cryptorchidism, Failure to thrive, Thrombocytopenia |
OMIM:615597 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Centrally nucleated skeletal muscle fibers, Insulin-resistant diabetes mellitus, Increased variab... |
ORPHA:401768 |
| King-Denborough Syndrome |
|
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, B... |
OMIM:619542 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Reduced haptoglobin level, Unconjugated hyperbilirubinemia |
OMIM:266200 |
| Hereditary Elliptocytosis |
|
Neonatal hyperbilirubinemia, Hyperbilirubinemia |
ORPHA:288 |
| Stt3B-Cdg |
|
Cryptorchidism, Failure to thrive, Thrombocytopenia |
ORPHA:370924 |
| Trichothiodystrophy 2, Photosensitive |
|
Coarse hair, Tiger tail banding, Short stature |
OMIM:616390 |
| Oculoskeletodental Syndrome |
|
Hepatomegaly, Small for gestational age, Hypercalcemia, Splenomegaly, Cryptorchidism, Elbow flexi... |
OMIM:618440 |
| Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
| Acute Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
| Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
| Thyrocerebroretinal Syndrome |
|
Skeletal muscle atrophy, Thrombocytopenia, Goiter |
OMIM:274240 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Failure to thrive, Hepatic fibrosis, Hypoalbuminemia, Cirrhosis, Steatorrhea, Hyper... |
OMIM:602579 |
| Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Refractory anemia with ringed sideroblasts, Redu... |
OMIM:619523 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Broad-based gait, Hyperactivity, Ataxia, Abnormal eating behavior, Tongue thrusting, Obesity, Con... |
ORPHA:98794 |
| Myasthenic Syndrome, Congenital, 12 |
|
Ragged-red muscle fibers, Facial palsy, Mildly elevated creatine kinase, Proximal amyotrophy |
OMIM:610542 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Hemangioma, Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:141000 |
| Reticular Dysgenesis |
|
Failure to thrive, Aplasia/Hypoplasia of the thymus, Weight loss |
ORPHA:33355 |
| Myopathy, Myofibrillar, 8 |
|
Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta... |
OMIM:617258 |
| Camurati-Engelmann Disease |
|
Slender build, Hypogonadism, Cachexia, Delayed puberty |
ORPHA:1328 |
| Pseudohypoparathyroidism, Type Ib |
|
Elevated circulating parathyroid hormone level, Obesity, Low urinary cyclic AMP response to PTH a... |
OMIM:603233 |
| Anterior Cutaneous Nerve Entrapment Syndrome |
|
Back pain, Inguinal hernia, Abdominal pain, Leukocytosis, Decreased body weight, Allodynia |
ORPHA:51890 |
| Bleeding Disorder, Platelet-Type, 20 |
|
Thrombocytopenia |
OMIM:616913 |
| Von Willebrand Disease, Type 2 |
|
Thrombocytopenia |
OMIM:613554 |
| Porphyria, Congenital Erythropoietic |
|
Hepatomegaly, Hemolytic anemia, Splenomegaly, Jaundice, Corneal scarring, Atypical scarring of sk... |
OMIM:263700 |
| Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Cryptorchidism, Flexion contracture, Arthrogryposis multiplex congenita, Increased endomysial con... |
ORPHA:178148 |
| Hyper-Igd Syndrome |
|
Neutrophilia, Abdominal pain, Increased circulating IgA level, Splenomegaly, Lymphadenitis, Leuko... |
OMIM:260920 |
| Overhydrated Hereditary Stomatocytosis |
|
Hyperbilirubinemia |
OMIM:185000 |
| Drug-Induced Lupus Erythematosus |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:231111 |
| Abdominal Obesity-Metabolic Syndrome 4 |
|
Hypertriglyceridemia, Type II diabetes mellitus, Obesity |
OMIM:618620 |
| Non-Acquired Panhypopituitarism |
|
Pituitary dwarfism, Ectopic posterior pituitary, Short stature, Decreased response to growth horm... |
ORPHA:90695 |
| Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
| Dysbetalipoproteinemia |
|
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Hypothyroidism, Renal ... |
ORPHA:412 |
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Short stature, Small for gestational age, Septate vagina, Bicornuate uterus, Rectovaginal fistula... |
OMIM:300707 |
| Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Thrombocytopenia, Hyperammonemia, Hyperglycin... |
OMIM:251100 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Rec... |
OMIM:618935 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Sparse scalp hair, Sparse eyelashes, Decreased response to growth hormone stimulation test, Spars... |
OMIM:129900 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Hepatomegaly, Neutropenia, Steatorrhea, Hyperechogenic pancreas, Failure to th... |
OMIM:617941 |
| Koolen-De Vries Syndrome |
|
Failure to thrive, Short stature, Small for gestational age, Abnormality of hair texture, Cryptor... |
OMIM:610443 |
| Noonan Syndrome 4 |
|
Curly hair, Short stature, Large for gestational age, Sparse eyebrow, Cryptorchidism, High anteri... |
OMIM:610733 |
| Fanconi Anemia, Complementation Group V |
|
Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marrow hypocellulari... |
OMIM:617243 |
| Sheehan Syndrome |
|
Decreased circulating cortisol level, Hypoglycemia, Reduced circulating prolactin concentration, ... |
ORPHA:91355 |
| Primary Sjögren Syndrome |
|
Fatigue, Normocytic anemia, Myositis, Chronic active hepatitis, Lymphoproliferative disorder, Lym... |
ORPHA:289390 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Anuria, Peritonitis, Megacystis, Pyelonephritis, Fetal megacystis, Renal cortical hyperechogenicity |
OMIM:619351 |
| Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Hemolytic anemia, Generalized lymphadenopathy, Pancytopenia, Splenomegaly, Increase... |
OMIM:615846 |
| Cardiofaciocutaneous Syndrome 4 |
|
Absent eyebrow, Curly hair, Short stature, Sparse eyelashes, Decreased response to growth hormone... |
OMIM:615280 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Failure to thrive, Short stature, Thick hair, Postnatal growth retardation, Coarse hair, Lissence... |
ORPHA:357074 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Sparse scalp hair, Sparse eyelashes, Decreased response to growth hormone stimulation test, Spars... |
OMIM:604292 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Impulsivity, Aggressive behavior, Overweight, Flexion contracture, Chronic diarrhea, Chronic cons... |
ORPHA:500055 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hypoplasia of penis, Supernumerary nipple, Cryptorchidism, Aplastic/hypoplastic toenail, Fine hai... |
ORPHA:1812 |
| Ectodermal Dysplasia 13, Hair/Tooth Type |
|
Brittle hair, Sparse eyelashes, Low anterior hairline, Thin eyebrow |
OMIM:617392 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I... |
OMIM:602522 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Leukocytosis, Hypothyroidism, Hashimoto thyroiditis, Thrombocytopenia, Goiter |
ORPHA:83601 |
| Senior-Loken Syndrome 9 |
|
Stage 5 chronic kidney disease, Obesity, Cholestasis, Tubulointerstitial nephritis, Hepatic fibro... |
OMIM:616629 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Abnormality of female external genitalia, Precocious puberty, Disproportionate short stature, Fin... |
ORPHA:2637 |
| Central Diabetes Insipidus |
|
Failure to thrive, Diabetes insipidus, Weight loss |
ORPHA:178029 |
| Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
| Acute Adrenal Insufficiency |
|
Decreased circulating cortisol level, Decreased female libido, Adrenal hypoplasia, Sparse axillar... |
ORPHA:95409 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Exercise intolerance, Hypergonadotropic hypogonadism, Elevated circulating creatine kinase concen... |
OMIM:615084 |
| Bainbridge-Ropers Syndrome |
|
Highly arched eyebrow, Supernumerary nipple, Precocious puberty, Cryptorchidism, Synophrys, Hirsu... |
OMIM:615485 |
| Dentici-Novelli Neurodevelopmental Syndrome |
|
Precocious puberty, Simplified gyral pattern |
OMIM:619877 |
| Beckwith-Wiedemann Syndrome |
|
Congenital diaphragmatic hernia, Large for gestational age, Cardiomegaly, Leiomyosarcoma, Neoplas... |
ORPHA:116 |
| 46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... |
OMIM:233420 |
| Koolen-De Vries Syndrome |
|
Hypopigmentation of hair, Short stature, Hypospadias, Abnormality of hair texture, Cryptorchidism... |
ORPHA:96169 |
| Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Failure to thrive in infancy, Proportionate short stature, Glucocortocoid-insensitive primary hyp... |
ORPHA:171876 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Impaired T cell function, Splenomegaly, Decreased serum zinc, Hypogonadism, Decreas... |
OMIM:201100 |
| Mpi-Cdg |
|
Hepatomegaly, Portal hypertension, Hypoalbuminemia, Hepatic fibrosis, Decreased liver function, H... |
ORPHA:79319 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Renal insufficiency, Polyuria, Renal salt wasting, Increased urinary potassium,... |
OMIM:613090 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Micrognathia, Conjugated hyperbilirubinemia, Optic nerve dysplasia, Optic atrophy, Elevated circu... |
OMIM:614866 |
| Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:306400 |
| Myopathy, Centronuclear, 4 |
|
Exercise intolerance, Centrally nucleated skeletal muscle fibers, Abnormal circulating creatine k... |
OMIM:614807 |
| Miyoshi Muscular Dystrophy 1 |
|
Elevated circulating creatine kinase concentration, Distal amyotrophy, Muscular dystrophy, Lower ... |
OMIM:254130 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Hemolytic anemia, Decreased muscle mass, Exercise-induced rhabdomyolysis, Hyperkalemia, EMG: myop... |
ORPHA:57 |
| Giant Axonal Neuropathy |
|
Woolly hair, Abnormal pituitary gland morphology, Pili canaliculi |
ORPHA:643 |
| Hypotonia-Cystinuria Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Facial pal... |
OMIM:606407 |
| Acrogeria |
|
Short stature, Fine hair |
ORPHA:2500 |
| Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Elevated circulating creatine kinase concentration, Camptodactyly of finger, Ankle flexion contra... |
OMIM:617072 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hydrocele testis, Anemia, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia |
OMIM:616738 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Growth delay, Synophrys, Hypospadias, Fine hair |
OMIM:619428 |
| Odontotrichoungual-Digital-Palmar Syndrome |
|
Nail dystrophy, Nail dysplasia, Abnormality of hair texture |
OMIM:601957 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Abnormality of the thyroid gland, Short stature, Cachexia |
ORPHA:1969 |
| Distal Duplication 6P |
|
Abnormal hair quantity, Short stature, Abnormal eyelash morphology, Fine hair, Intrauterine growt... |
ORPHA:1745 |
| Huntington Disease |
|
Weight loss, Decreased body mass index, Abnormal libido |
ORPHA:399 |
| Sickle Cell Disease |
|
Hepatomegaly, Hemolytic anemia, Abdominal pain, Cardiomegaly, Splenomegaly, Jaundice, Splenic inf... |
OMIM:603903 |
| Acrofacial Dysostosis, Catania Type |
|
Short stature, Hypospadias, Abnormal hair pattern, Cryptorchidism, Coarse hair, Intrauterine grow... |
ORPHA:1786 |
| Ogden Syndrome |
|
Postnatal growth retardation, Cryptorchidism, Aplasia/Hypoplasia of the eyebrow, Fine hair |
ORPHA:276432 |
| Myopathy, Centronuclear, 2 |
|
Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, ... |
OMIM:255200 |
| Copper Deficiency, Familial Benign |
|
Curly hair, Failure to thrive, Early balding |
OMIM:121270 |
| Meacham Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Hydrometrocolpos, Abnormal fallopian tube morphology, Ambigu... |
ORPHA:3097 |
| Wiskott-Aldrich Syndrome |
|
Fatigue, Hemolytic anemia, Abnormal eosinophil morphology, Sudden cardiac death, Microcytic anemi... |
ORPHA:906 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Elevated circulating creatine kinase concentration, Ragged-red muscle fibers, Lower limb amyotrop... |
OMIM:616924 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Exercise intolerance, Scapular winging, Elevated circulating creatine kinase concentration, Facia... |
ORPHA:254886 |
| Pili Torti, Early-Onset |
|
Dry hair, Brittle hair, Coarse hair, Hair shafts flattened at irregular intervals and twisted thr... |
OMIM:261900 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Weight loss |
ORPHA:2198 |
| Cranioectodermal Dysplasia 2 |
|
Micrognathia, Cleft palate, Broad philtrum, Fused teeth, High palate, Widely spaced teeth, Hyperb... |
OMIM:613610 |
| Optic Pathway Glioma |
|
Growth delay, Precocious puberty |
ORPHA:2086 |
| Trichothiodystrophy 7, Nonphotosensitive |
|
Tiger tail banding, Brittle hair |
OMIM:618546 |
| Hurler-Scheie Syndrome |
|
Hepatomegaly, Inguinal hernia, Camptodactyly of finger, Thenar muscle atrophy, Contracture of the... |
OMIM:607015 |
| Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Alopecia, Short stature, Cryptorchidism, Fine hair, Growth delay, Premature graying of hair, Nail... |
OMIM:613990 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Elevated circulating creatine kinase concentration, Hip pain, Fatty replacement of skeletal muscl... |
ORPHA:52430 |
| Trichothiodystrophy 8, Nonphotosensitive |
|
Sparse hair, Woolly hair, Sparse eyebrow, Trichorrhexis nodosa |
OMIM:619691 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Fatigue, Pancytopenia, Hypergonadotropic hypogonadism, Elevated circulating creatine kinase conce... |
OMIM:607426 |
| Cold Agglutinin Disease |
|
Fatigue, Hepatomegaly, Back pain, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Arthralgia |
ORPHA:56425 |
| Hand-Foot-Genital Syndrome |
|
Bifid scrotum, Hypospadias, Uterus didelphys, Chordee, Small nail, Longitudinal vaginal septum, M... |
OMIM:140000 |
| Thalidomide Embryopathy |
|
Insulin resistance |
ORPHA:3312 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Precocious puberty, Cryptorchidism, Labial hypoplasia, Micropenis, Hirsutism |
OMIM:620073 |
| Crimean-Congo Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Leukopenia, Increased circulating IgG level, ... |
ORPHA:99827 |
| Pseudohypoparathyroidism, Type Ic |
|
Elevated circulating thyroid-stimulating hormone concentration, Obesity, Pseudohypoparathyroidism... |
OMIM:612462 |
| Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... |
OMIM:607364 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Vacuolated lymphocytes, Macrogloss... |
OMIM:230000 |
| Mckusick-Kaufman Syndrome |
|
Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, Rectovaginal fistula, Vesicovaginal ... |
OMIM:236700 |
| Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Splenomegaly, Hyp... |
OMIM:232220 |
| Hypomelia With Mullerian Duct Anomalies |
|
Uterus didelphys, Longitudinal vaginal septum |
OMIM:146160 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Fasciitis, Myositis, Elevated circulating C-reactive protein concentration, Abdominal pain, Orchi... |
ORPHA:32960 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Small for gestational age, Anisocytosis, Anemia ... |
OMIM:224120 |
| Gaucher Disease Type 3 |
|
Fatigue, Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Bone pain, Increased circula... |
ORPHA:77261 |
| Hypotrichosis 13 |
|
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology |
OMIM:615896 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233710 |
| Chops Syndrome |
|
Curly hair, Short stature, Thick hair, Cryptorchidism, Synophrys, Obesity, Coarse hair, Long eyel... |
OMIM:616368 |
| Tubular Aggregate Myopathy |
|
Centrally nucleated skeletal muscle fibers, Type 2 muscle fiber atrophy, EMG: myopathic abnormali... |
ORPHA:2593 |
| Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Weight loss, Pheochromocytoma, Elevated circulating calcitonin conce... |
ORPHA:1332 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Type 1 muscle fiber predo... |
OMIM:608340 |
| Bazex-Dupre-Christol Syndrome |
|
Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Trichorrhexis nodosa |
OMIM:301845 |
| Hutchinson-Gilford Progeria Syndrome |
|
Cyanosis, Female hypogonadism, Decreased serum leptin, Insulin resistance, Absence of subcutaneou... |
ORPHA:740 |
| Carney Complex |
|
Increased body weight, Papillary thyroid carcinoma, Thyroid carcinoma, Leydig cell neoplasia, Ova... |
ORPHA:1359 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
| 19P13.3 Microduplication Syndrome |
|
Growth delay, Intrauterine growth retardation, Precocious puberty, Unilateral cryptorchidism |
ORPHA:447980 |
| Myh9-Related Disease |
|
Elevated hepatic transaminase, Increased mean platelet volume, Giant platelets, Neutrophil inclus... |
ORPHA:182050 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Fatigue, Exercise intolerance, Diabetes mellitus, Abnormality of the thyroid gland, Ragged-red mu... |
OMIM:609286 |
| Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis, Decreased circulating antibody level |
OMIM:618042 |
| Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
| Down Syndrome |
|
Renal hypoplasia/aplasia, Obesity, Gait disturbance, Type II diabetes mellitus, Umbilical hernia,... |
ORPHA:870 |
| Pseudo-Torch Syndrome 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Patent ductus arteriosus, Ascites, Thrombocytopenia |
OMIM:617397 |
| Multiple Endocrine Neoplasia, Type I |
|
Hypoglycemia, Hypercalcemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone c... |
OMIM:131100 |
| Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Decreased activity of mitochondrial complex I, Myopathy, Ragged-red muscle fibers |
OMIM:618242 |
| Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in upper limbs, Urinary incontinence, Large for gestational age, Central... |
ORPHA:169189 |
| Ogden Syndrome |
|
Microretrognathia, Thin upper lip vermilion, Everted upper lip vermilion, Maternal diabetes, Abno... |
OMIM:300855 |
| Renal Cysts And Diabetes Syndrome |
|
Renal cyst, Glucose intolerance, Pancreatic hypoplasia, Hypospadias, Abnormality of the kidney, R... |
OMIM:137920 |
| Chromosome 17Q12 Deletion Syndrome |
|
Short stature, Hyperconvex nail, Highly arched eyebrow, Sparse eyebrow, Cryptorchidism, Ovarian c... |
OMIM:614527 |
| Myopathy, Centronuclear, 5 |
|
Hip contracture, Abnormal circulating creatine kinase concentration, Weakness of facial musculatu... |
OMIM:615959 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Renal potassium ... |
OMIM:618314 |
| Sulfite Oxidase Deficiency, Isolated |
|
Fine hair |
OMIM:272300 |
| Gray Platelet Syndrome |
|
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ... |
OMIM:139090 |
| Craniofrontonasal Syndrome |
|
Ridged nail, Curly hair, Split nail, Short stature, Hypospadias, Cryptorchidism, Widow's peak, Lo... |
OMIM:304110 |
| Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Abdo... |
ORPHA:567983 |
| Hermansky-Pudlak Syndrome 9 |
|
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia |
OMIM:614171 |
| Narcolepsy 7 |
|
Type II diabetes mellitus, Obesity |
OMIM:614250 |
| Hereditary Spherocytosis |
|
Hepatomegaly, Reticulocytosis, Extramedullary hematopoiesis, Spontaneous hemolytic crises, Abdomi... |
ORPHA:822 |
| X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Precocious puberty |
ORPHA:457260 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Abdominal pain, Splenomegaly, Jaundice, Leukocytosis, Unconjugated... |
OMIM:300908 |
| Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Atretic gallbladder, Sple... |
ORPHA:30391 |
| Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Small for gestational age, Hypergonadotropic hypogonadism, Thrombocytopenia, Crypto... |
OMIM:227646 |
| Systemic Lupus Erythematosus |
|
Hemolytic anemia, Thrombocytopenia, Leukopenia |
OMIM:152700 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated hepatic transaminase, Exercise intolerance, Skeletal muscle atrophy, Elevated circulatin... |
OMIM:620138 |
| Platelet Disorder, Undefined |
|
Neuroblastoma, Impaired platelet aggregation, Thrombocytopenia, Hematological neoplasm |
OMIM:173420 |
| Waldenström Macroglobulinemia |
|
Fatigue, Hepatomegaly, Normocytic anemia, Abnormality of neutrophils, Splenomegaly, Lymphoma, Lym... |
ORPHA:33226 |
| Netherton Syndrome |
|
Sparse scalp hair, Brittle hair, Brittle scalp hair, Sparse eyebrow, Failure to thrive |
OMIM:256500 |
| Ritscher-Schinzel Syndrome 4 |
|
Curly hair, Micropenis, Short stature, Cryptorchidism |
OMIM:619435 |
| Essential Thrombocythemia |
|
Abnormality of thrombocytes, Myelodysplasia, Splenomegaly, Abnormal platelet morphology, Acute le... |
ORPHA:3318 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Cachexia, Growth delay, Azoospermia, Delayed puberty, Cholelithiasis |
ORPHA:2072 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Fatty replacement of skeletal muscle, Myopathy, Increased variability in muscle fiber diameter, E... |
ORPHA:397744 |
| Adrenomyeloneuropathy |
|
Frontal balding, Primary adrenal insufficiency, Fine hair, Adrenocorticotropic hormone excess, Ma... |
ORPHA:139399 |
| Amaurosis-Hypertrichosis Syndrome |
|
Abnormal eyelash morphology, Synophrys, Coarse hair, Thick eyebrow |
ORPHA:1021 |
| Juvenile Polyposis Of Infancy |
|
Cachexia, Short stature, Freckled genitalia |
ORPHA:79076 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta... |
OMIM:612999 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614924 |
| Holocarboxylase Synthetase Deficiency |
|
Thrombocytopenia, Hyperammonemia, Weight loss |
ORPHA:79242 |
| Polycythemia Vera |
|
Fatigue, Hepatomegaly, Portal hypertension, Abdominal pain, Portal vein thrombosis, Splenomegaly,... |
ORPHA:729 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis, Hyperinsulinemia |
ORPHA:66518 |
| Moyamoya Disease 6 With Or Without Achalasia |
|
Thrombocytopenia |
OMIM:615750 |
| Takenouchi-Kosaki Syndrome |
|
Inguinal hernia, Increased mean platelet volume, Cryptorchidism, Patent ductus arteriosus, Campto... |
OMIM:616737 |
| Incontinentia Pigmenti |
|
Ridged nail, Alopecia, Short stature, Supernumerary nipple, Nail pits, Fine hair, Coarse hair, Br... |
OMIM:308300 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Short stature, Cachexia |
ORPHA:220295 |
| Jaberi-Elahi Syndrome |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair, Failure to thrive |
OMIM:617988 |
| Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Muscle fiber hyaline bodies, Elevated circulating creatine kinase concentration, Centrally nuclea... |
OMIM:255160 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased circulating IgG level, Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, C... |
OMIM:618278 |
| Kaufman Oculocerebrofacial Syndrome |
|
Failure to thrive, Hypocholesterolemia |
OMIM:244450 |
| Congenital Disorder Of Glycosylation, Type Iim |
|
Mandibular prognathia, Exaggerated cupid's bow, Fused teeth, High palate, Short philtrum, Thick v... |
OMIM:300896 |
| Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Fatigue, Exercise intolerance, Exercise-induced myalgia, Myalgia, Decreased activity of mitochond... |
OMIM:618250 |
| Peeling Skin Syndrome 1 |
|
Onycholysis, Brittle hair, Short stature, Nail dystrophy |
OMIM:270300 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Fatigue, Elevated circulating creatine kinase concentration, Skeletal muscle hypertrophy, Calf mu... |
OMIM:613157 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Thin upper lip vermilion, Natal tooth, Micrognathia, Carious teeth, Optic disc coloboma, Downturn... |
OMIM:620186 |
| Mccune-Albright Syndrome |
|
Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... |
OMIM:174800 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypertriglyceridemia, Polyuria, Elevated circulating thyroid-stimulating hormone concentration, S... |
OMIM:618183 |
| Rh Deficiency Syndrome |
|
Reduced haptoglobin level, Hyperbilirubinemia |
ORPHA:71275 |
| Noonan Syndrome 7 |
|
Curly hair, Short stature, Large for gestational age, Low posterior hairline, Growth delay |
OMIM:613706 |
| Congenital Myopathy 18 |
|
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, F... |
OMIM:620246 |
| Vulto-Van Silfhout-De Vries Syndrome |
|
Widow's peak, Horizontal eyebrow, Fine hair |
OMIM:615828 |
| Vexas Syndrome |
|
Fatigue, Macrocytic anemia, Elevated circulating C-reactive protein concentration, Myelodysplasia... |
OMIM:301054 |
| Adams-Oliver Syndrome 5 |
|
Inguinal hernia, Portal vein thrombosis, Splenomegaly, Hypersplenism, Cavernous hemangioma, Umbil... |
OMIM:616028 |
| Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... |
ORPHA:325124 |
| Helix Syndrome |
|
Renal insufficiency, Hyperparathyroidism, Polyuria, Xerostomia, Nephrolithiasis, Hypocalciuria, P... |
OMIM:617671 |
| Fanconi Anemia, Complementation Group F |
|
Decreased response to growth hormone stimulation test, Cryptorchidism, Patent ductus arteriosus, ... |
OMIM:603467 |
| Slc35A2-Cdg |
|
Short stature, Failure to thrive in infancy, Precocious puberty, Elevated circulating thyroid-sti... |
ORPHA:356961 |
| Smith-Magenis Syndrome |
|
Short stature, Failure to thrive in infancy, Precocious puberty, Synophrys, Obesity, Delayed pube... |
ORPHA:819 |
| Trichodermodysplasia-Dental Alterations Syndrome |
|
Sparse scalp hair, Brittle hair, Fine hair, Sparse or absent eyelashes, Adenoma sebaceum, Abnorma... |
ORPHA:3353 |
| Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Small for gestational age, Hypergonadotropic hypogonadism, Cryptorchidism, Reticulo... |
OMIM:600901 |
| Johanson-Blizzard Syndrome |
|
Sparse scalp hair, Failure to thrive, Diabetes mellitus, Short stature, Hypospadias, Septate vagi... |
OMIM:243800 |
| Muscular Dystrophy, Congenital, Megaconial Type |
|
Facial palsy, Elevated circulating creatine kinase concentration, Mitochondrial hypertrophy, Myop... |
OMIM:602541 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:603041 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Copper accumulation in liver, Anemia, Elevated hepatic iron concentration, Increased hepatic glyc... |
OMIM:614946 |
| Norrie Disease |
|
Diabetes mellitus, Cachexia, Cryptorchidism, Erectile dysfunction, Uterine rupture, Failure to th... |
ORPHA:649 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Fatigue, Autoimmune hemolytic anemia, Lymphoproliferative disorder, Splenomegaly, Jaundice, Chron... |
ORPHA:90033 |
| Cardiofaciocutaneous Syndrome |
|
Brittle hair, Short stature, Slow-growing hair, Failure to thrive in infancy, Abnormal eyelash mo... |
ORPHA:1340 |
| Sabinas Brittle Hair Syndrome |
|
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:211390 |
| Fructose Intolerance, Hereditary |
|
Hypoglycemia, Bicarbonaturia, Hypophosphatemia, Hyperuricemia, Hyperbilirubinemia, Glycosuria |
OMIM:229600 |
| Pmm2-Cdg |
|
Elevated hepatic transaminase, Fever, Multiple joint contractures, Proteinuria, Lipodystrophy, At... |
ORPHA:79318 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po... |
OMIM:602347 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Thrombocytopenia |
OMIM:188025 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume |
OMIM:615193 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated hepatic transaminase, Hepatomegaly, Myopathy, Abnormal circulating creatine kinase conce... |
ORPHA:369840 |
| Proteus Syndrome |
|
Thymus hyperplasia, Testicular neoplasm, Cachexia, Neoplasm of the thymus, Enlarged polycystic ov... |
ORPHA:744 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Short stature, Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scal... |
ORPHA:35173 |
| Oculopharyngodistal Myopathy |
|
Weight loss |
ORPHA:98897 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypoglycemic seizures, Hypothyroidism, Hepatic steatosis, Hepatomegaly, Delayed puberty, Anemia, ... |
ORPHA:79259 |
| Congenital Myopathy 9B, Proximal, With Minicore Lesions |
|
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Cryptorchidism,... |
OMIM:618823 |
| Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:613550 |
| Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
| Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Small for gestational age, Hypergonadotropic hypogonadism, Cryptorchidism, Reticulo... |
OMIM:227650 |
| Acute Radiation Syndrome |
|
Fatigue, Lymphopenia, Granulocytopenia, Thrombocytopenia |
ORPHA:454831 |
| Proteus-Like Syndrome |
|
Thymus hyperplasia, Exostoses, Splenomegaly, Abnormality of the parathyroid gland, Hemangioma, Su... |
ORPHA:2969 |
| Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Failure to thrive, Small for gestational age, Increased mean platelet volume, Splen... |
OMIM:222470 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Hypomagnesemia, Thro... |
OMIM:619743 |
| Leopard Syndrome 3 |
|
Growth delay, Curly hair, Short stature, Low posterior hairline |
OMIM:613707 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Exercise intolerance, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration... |
OMIM:258450 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... |
OMIM:617443 |
| Letterer-Siwe Disease |
|
Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Thrombocytopenia |
OMIM:246400 |
| Deeah Syndrome |
|
Hepatomegaly, Decreased hemoglobin concentration, Decreased response to growth hormone stimulatio... |
OMIM:619004 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Thin upper lip vermilion, High, narrow palate, Short uvula, Broad philtrum, Coloboma, Short philt... |
OMIM:619475 |
| Atelis Syndrome 2 |
|
Remnants of the hyaloid vascular system, Micrognathia, Diastema, Thick lower lip vermilion, Hyper... |
OMIM:620185 |
| Myotonic Dystrophy 2 |
|
Elevated circulating creatine kinase concentration, Weakness of facial musculature, Oligozoosperm... |
OMIM:602668 |
| Melas |
|
Exercise intolerance, Hypoparathyroidism, Diabetes mellitus, Hypogonadotropic hypogonadism, Hypot... |
ORPHA:550 |
| Netherton Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Short stature, Sparse eyebrow, Abnormal hair morphology, Fin... |
ORPHA:634 |
| Lissencephaly Due To Lis1 Mutation |
|
Neonatal hyperbilirubinemia |
ORPHA:95232 |
| Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Decreased circulating ferritin concentration, Abnormal muscle fiber protein expression |
ORPHA:330054 |
| Genitopatellar Syndrome |
|
Sparse scalp hair, Small scrotum, Short stature, Cryptorchidism, Fine hair, Clitoral hypertrophy |
ORPHA:85201 |
| Oculopharyngodistal Myopathy 4 |
|
Autophagic vacuoles, Elevated circulating creatine kinase concentration, Fatty replacement of ske... |
OMIM:619790 |
| Lysosomal Acid Lipase Deficiency |
|
Adrenal calcification, Cachexia, Primary adrenal insufficiency, Weight loss, Failure to thrive |
ORPHA:275761 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Abnormality of the thenar eminence, Small for gestational age, Pure red c... |
ORPHA:124 |
| Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Thenar muscle atrophy, Elbow... |
OMIM:612394 |
| Adult Syndrome |
|
Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Fine hair, Fingernail d... |
ORPHA:978 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Ragged-red muscle fibers, Decreased activity of mitochondrial complex III |
OMIM:615159 |
| Ollier Disease |
|
Precocious puberty |
ORPHA:296 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Intrauterine growth retardation, Severe short stature, Proportionate short stature, Weight loss |
ORPHA:3208 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Thin upper lip vermilion, Cleft palate, Short philtrum, Hypocalcemia, Hyperbilirubinemia |
ORPHA:163979 |
| Leopard Syndrome 2 |
|
Curly hair, Short stature |
OMIM:611554 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Elevated cir... |
OMIM:614643 |
| Digeorge Syndrome |
|
Hepatic steatosis, Inguinal hernia, Femoral hernia, Parathyroid agenesis, Decreased circulating p... |
OMIM:188400 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio... |
OMIM:153670 |
| Kasabach-Merritt Syndrome |
|
Reticulocytosis, Abdominal pain, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopen... |
ORPHA:2330 |
| Arima Syndrome |
|
Hepatomegaly, Proteinuria, Polyuria, Ataxia, Stage 5 chronic kidney disease, Hematuria, Renal cor... |
OMIM:243910 |
| Juvenile Huntington Disease |
|
Weight loss |
ORPHA:248111 |
| Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Intrauterine growth retardation, Hypospadias, Fine hair |
ORPHA:363686 |
| Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Glioma, Dysgammaglobulinemia, Rhabdomyosarcoma, Medulloblastoma, Lym... |
OMIM:251260 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:231095 |
| 22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Inguinal hernia, Hyperthyroidism, Abnormal dental enamel morphology, Bowel in... |
ORPHA:567 |
| Uncombable Hair Syndrome 1 |
|
Uncombable hair, Dry hair, Pili canaliculi |
OMIM:191480 |
| Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia |
ORPHA:3217 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Growth delay, Failure to thrive, Abnormality of hair texture |
ORPHA:88618 |
| Gaucher Disease, Type Ii |
|
Hepatomegaly, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia |
OMIM:230900 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Patent ductus arteriosus, Increased mean platelet volume |
OMIM:300048 |
| 8P23.1 Microdeletion Syndrome |
|
Short stature, Hypospadias, Cryptorchidism, Obesity, Weight loss, Growth delay, Intrauterine grow... |
ORPHA:251071 |
| Allergic Bronchopulmonary Aspergillosis |
|
Abnormal fingernail morphology, Weight loss |
ORPHA:1164 |
| Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:256100 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Severe short-limb dwarfism, Failure to thrive, Rhizomelia, Weight loss |
ORPHA:1842 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Thrombocytopenia, Failure to thrive in infancy, Anemia, Camptodactyly |
ORPHA:261323 |
| Brachycephaly, Trichomegaly, And Developmental Delay |
|
Brittle hair, Short stature, Highly arched eyebrow, Synophrys, Long eyelashes, Thick eyebrow |
OMIM:617412 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase concentration, Thrombocytopenia,... |
ORPHA:2785 |
| Interstitial Cystitis |
|
Dyspareunia, Abnormal vagina morphology, Abnormal labia morphology, Abnormality of the menstrual ... |
ORPHA:37202 |
| Keppen-Lubinsky Syndrome |
|
Lack of facial subcutaneous fat, Decreased serum leptin, Flexion contracture, Absence of subcutan... |
OMIM:614098 |
| Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, Myelodysplasia, Cryptorchidism, Patent ductus arterio... |
ORPHA:84 |
| Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
| 9P13 Microdeletion Syndrome |
|
Short stature, Hyperconvex nail, Highly arched eyebrow, External genital hypoplasia, Hypoplastic ... |
ORPHA:324313 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Primary testicular failure, Oligozoospermia, Weight loss, Hypogonadism, Abnorma... |
ORPHA:85450 |
| Braddock-Carey Syndrome 2 |
|
Thrombocytopenia |
OMIM:619981 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Aggressive behavior, Increased body weight, Horseshoe kidney, Self-injurious behavior, Micropenis |
OMIM:300860 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Sparse scalp hair, Hypospadias, Postnatal growth retardation, Precocious puberty, Disproportionat... |
OMIM:210720 |
| Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Back pain, Scapular winging, Abnormality of the musculature of the lower limbs, Urinary incontine... |
ORPHA:329478 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Pancytopenia, Aplastic anemia, Hepatic fibrosis, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:224230 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Curly hair, Failure to thrive, Short stature |
OMIM:300986 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Hypoammonemia, Hyponatremia, Abnormal dental enamel morphology, Cryptorchidi... |
ORPHA:534 |
| Multiple Myeloma |
|
Fatigue, Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating creat... |
ORPHA:29073 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Growth delay, Weight loss |
OMIM:266600 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Weight loss, Hyperthyroidism, Goiter |
OMIM:188580 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Exercise intolerance, Inguinal hernia, Pancytopenia, Small for ges... |
OMIM:613658 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H... |
OMIM:607626 |
| Pallister-Hall Syndrome |
|
Small scrotum, Adrenal hypoplasia, Large for gestational age, Gonadotropin deficiency, Micropenis... |
ORPHA:672 |
| Noonan Syndrome 14 |
|
Curly hair, Short stature, Sparse eyebrow, Cryptorchidism, Low posterior hairline, Sparse hair |
OMIM:619745 |
| Acrodermatitis Enteropathica |
|
Ridged nail, Abnormal eyebrow morphology, Alopecia, Short stature, Paronychia, Weight loss, Ridge... |
ORPHA:37 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Exercise intolerance, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration... |
OMIM:616479 |
| Trichorhinophalangeal Syndrome, Type I |
|
Short stature, Thin nail, Slow-growing hair, Concave nail, Leukonychia, Fine hair, Growth delay, ... |
OMIM:190350 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
| Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Elevated circulating creatine kinase concentration, Ragged-red muscle fibers, Rhabdomyolysis, Hyp... |
OMIM:618416 |
| Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Faci... |
ORPHA:169186 |
| Tricho-Retino-Dento-Digital Syndrome |
|
Uncombable hair, Sparse hair |
ORPHA:1264 |
| Hereditary Chronic Pancreatitis |
|
Diabetes mellitus, Elevated circulating C-reactive protein concentration, Abdominal pain, Jaundic... |
ORPHA:676 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Hepatomegaly, Neutrophilia, Failure to thrive in infancy, Abscess, Elevated circulating C-reactiv... |
OMIM:612852 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Neonatal hypoglycemia, Generalized amyotrophy, Thrombocytopenia, Limb hypertonia |
ORPHA:572798 |
| Simpson-Golabi-Behmel Syndrome |
|
Omphalocele, Hepatomegaly, Inguinal hernia, Hypoglycemia, Camptodactyly of finger, Congenital dia... |
ORPHA:373 |
| Frontonasal Dysplasia 2 |
|
Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Bilateral cryptorchidism, Fine hair, Sparse h... |
OMIM:613451 |
| Hellp Syndrome |
|
Elevated hepatic transaminase, Back pain, Fatigue, Shoulder pain, Hemolytic anemia, Decreased mea... |
ORPHA:244242 |
| Striatonigral Degeneration, Infantile, Mitochondrial |
|
Ragged-red muscle fibers |
OMIM:500003 |
| Hallermann-Streiff Syndrome |
|
Alopecia, Sparse eyelashes, Proportionate short stature, Abnormality of hair texture, Sparse eyeb... |
ORPHA:2108 |
| Meacham Syndrome |
|
Septate vagina, Male pseudohermaphroditism, Blind vagina, Stillbirth, Bicornuate uterus, Neonatal... |
OMIM:608978 |
| Stevens-Johnson Syndrome |
|
Acute hepatic failure, Fatigue, Elevated hepatic transaminase, Sudden cardiac death, Abdominal pa... |
ORPHA:36426 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hip contracture, Muscle hemorrhage, Abnormality of the liver, Hyperbilirubinemia, Ascites, Thromb... |
ORPHA:464321 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
External genital hypoplasia, Postnatal growth retardation, Cryptorchidism, Fine hair, Sparse hair... |
ORPHA:251028 |
| Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Pancre... |
OMIM:615947 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dystrophy, Woolly hair, Failure to thrive |
OMIM:605676 |
| Cockayne Syndrome A |
|
Dry hair, Short stature, Cryptorchidism, Irregular menstruation, Severe postnatal growth retardat... |
OMIM:216400 |
| Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... |
ORPHA:652 |
| Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Synophrys, Long eyelashes, Obesity, Fine hair |
OMIM:620250 |
| Tyrosinemia, Type I |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hypertyrosinemia, Failure to ... |
OMIM:276700 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
| Nestor-Guillermo Progeria Syndrome |
|
Lipoatrophy, Failure to thrive, Flexion contracture, Decreased serum leptin |
OMIM:614008 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Jaundice, Schistocytosis, Elevated circulating creatinine concentration, Prolong... |
OMIM:274150 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Decreased circulating total IgG, B-cell lymphoma, Elevated... |
OMIM:619381 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Highly elevated creatine kinase, Myopathy, Increased variability in muscle fiber diameter, Centra... |
OMIM:618992 |
| Idiopathic Aplastic Anemia |
|
Pancytopenia, Thrombocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia |
ORPHA:88 |
| Budd-Chiari Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Abdomina... |
ORPHA:131 |
| Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Short stature, Highly arched eyebrow, Postnatal growth retardation, Cryptorchidism, Low posterior... |
OMIM:613563 |
| Familial Thrombocytosis |
|
Acute myeloid leukemia, Myelodysplasia, Splenomegaly, Weight loss, Chronic myelogenous leukemia, ... |
ORPHA:71493 |
| Lathosterolosis |
|
Hepatomegaly, Intrahepatic cholestasis, Anisopoikilocytosis, Abnormal platelet morphology, Hepati... |
ORPHA:46059 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Curly hair, Short stature, Slow-growing hair, Highly arched eyebrow, Cryptorchidism, Low posterio... |
OMIM:617506 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Precocious puberty, Failure to thrive, Short stature, Large for gestational age |
ORPHA:261652 |
| Craniopharyngioma |
|
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu... |
ORPHA:54595 |
| Bullous Pemphigoid |
|
Diabetes mellitus, Weight loss |
ORPHA:703 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormal testis morphology, Weight loss |
ORPHA:54251 |
| Dubowitz Syndrome |
|
Hypoparathyroidism, Sparse scalp hair, Short stature, Abnormal fingernail morphology, Hypospadias... |
ORPHA:235 |
| Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Hypothyroidism, Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue, Mildly elevated... |
ORPHA:663 |
| Blue Rubber Bleb Nevus |
|
Iron deficiency anemia, Abnormality of the liver, Hemangioma, Thrombocytopenia, Cerebellar medull... |
OMIM:112200 |
| Renal, Genital, And Middle Ear Anomalies |
|
Vaginal atresia |
OMIM:267400 |
| Kearns-Sayre Syndrome |
|
Hypoparathyroidism, Sideroblastic anemia, Diabetes mellitus, Ragged-red muscle fibers, Primary ad... |
OMIM:530000 |
| Anaplastic Thyroid Carcinoma |
|
Nodular goiter, Weight loss, Anaplastic thyroid carcinoma, Goiter |
ORPHA:142 |
| Toxic Epidermal Necrolysis |
|
Acute hepatic failure, Fatigue, Elevated hepatic transaminase, Sudden cardiac death, Abdominal pa... |
ORPHA:537 |
| Fontaine Progeroid Syndrome |
|
Small scrotum, Synophrys, Low anterior hairline, Coarse hair, Neonatal death, Micropenis, Short s... |
OMIM:612289 |
| Rift Valley Fever |
|
Elevated hepatic transaminase, Back pain, Thrombocytopenia, Jaundice, Ocular pain, Hepatitis, Inc... |
ORPHA:319251 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Curly hair, Sparse scalp hair, Short stature, Large for gestational age, Cryptorchidism, Loose an... |
OMIM:607721 |
| Waardenburg Syndrome, Type 1 |
|
White eyelashes, White eyebrow, Synophrys, Premature graying of hair, White forelock, Aplasia of ... |
OMIM:193500 |
| Distal Deletion 12Q |
|
Hyperactivity, Diabetes mellitus, Failure to thrive in infancy, Maturity-onset diabetes of the yo... |
ORPHA:96149 |
| Camptobrachydactyly |
|
Septate vagina |
OMIM:114150 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Eosinophilia, Shoulder muscle hypoplasia, Facial capillary hemangioma, Pancreatic cysts, Leukocyt... |
OMIM:274000 |
| Pleural Mesothelioma |
|
Weight loss |
ORPHA:50251 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Fatigue, Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Retroperito... |
ORPHA:79078 |
| Immune-Mediated Necrotizing Myopathy |
|
Skeletal muscle atrophy, Myositis, Scapular winging, Elevated circulating creatine kinase concent... |
ORPHA:206569 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Growth delay, Alopecia, Short stature, Precocious puberty |
OMIM:163200 |
| Kearns-Sayre Syndrome |
|
Skeletal muscle atrophy, Anterior hypopituitarism, Ragged-red muscle fibers |
ORPHA:480 |
| Amelogenesis Imperfecta, Type Ig |
|
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Gingival fibromatosis, Nephr... |
OMIM:204690 |
| Ulnar-Mammary Syndrome |
|
Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Sparse axillary hair, ... |
OMIM:181450 |
| Creatine Phosphokinase, Elevated Serum |
|
Fatigue, Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology, My... |
OMIM:123320 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short stature, Hypospadias, Fine hair, Nail dysplasia, Sparse hair, Aplasia/Hypoplasia of the eye... |
OMIM:614091 |
| Meckel Syndrome 12 |
|
Hypoplasia of the uterus, Intrauterine growth retardation, Vaginal atresia |
OMIM:616258 |
| Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Sparse hair, Intrauterine growth retardation, Cryptorchidism, Fine hair |
OMIM:614438 |
| Ivic Syndrome |
|
Leukocytosis, Patent ductus arteriosus, Small thenar eminence, Pectoralis major hypoplasia, Throm... |
OMIM:147750 |
| Nicolaides-Baraitser Syndrome |
|
Absent eyebrow, Dry hair, Sparse scalp hair, Short stature, Failure to thrive, Cryptorchidism, Lo... |
OMIM:601358 |
| Cerebellar-Facial-Dental Syndrome |
|
Infancy onset short-trunk short stature, Severe short stature, Sparse eyebrow, Cryptorchidism, Fi... |
ORPHA:444072 |
| Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
| Bronchial Neuroendocrine Tumor |
|
Elevated circulating growth hormone concentration, Increased circulating ACTH level, Pulmonary ca... |
ORPHA:97287 |
| Jacobsen Syndrome |
|
Cryptorchidism, Flexion contracture, Annular pancreas, Failure to thrive, Thrombocytopenia |
OMIM:147791 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Elevated circulating C-reactive protein concentration, Abdominal pain, Perianal abscess, Weight l... |
OMIM:301074 |
| Gm1 Gangliosidosis |
|
Short stature, Weight loss, Abnormality of the scrotum, Failure to thrive, Generalized hirsutism,... |
ORPHA:354 |
| Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Curly hair, Synophrys, Coarse hair |
OMIM:616351 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatomegaly, Hypoglycemia, Aggressive behavior, Precocious puberty, Obesity, Hepatosplenomegaly,... |
OMIM:301066 |
| Enamel-Renal Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv... |
ORPHA:1031 |
| Perlman Syndrome |
|
Nephrogenic rest, Hypoglycemia, Renal hamartoma, Congenital diaphragmatic hernia, Large for gesta... |
OMIM:267000 |
| Trisomy 20P |
|
Hypospadias, Thick hair, Highly arched eyebrow, Cryptorchidism, Low anterior hairline, Low poster... |
ORPHA:261318 |
| Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Pancytopenia, Oropharyngeal squamous cell carcinoma, Myelodysplasia, Thro... |
OMIM:305000 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Diaphragmatic eventration, Spinal muscular atrophy, Patent ductus arteriosus, Flexion contracture... |
OMIM:616866 |
| Tibial Muscular Dystrophy, Tardive |
|
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles |
OMIM:600334 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Postnatal growth retardation, Intrauterine growth retardation, Brittle hair, Hypospadias |
OMIM:619184 |
| Rodrigues Blindness |
|
Sparse hair, Short stature, Fine hair |
OMIM:268320 |
| Spinocerebellar Ataxia 28 |
|
Ragged-red muscle fibers, Lower limb hypertonia, Abnormal activity of mitochondrial respiratory c... |
OMIM:610246 |
| Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Sparse hair, Curly hair, Synophrys, Sparse eyebrow |
OMIM:620075 |
| Teratoma, Pineal |
|
Polydipsia, Polyuria, Teratoma |
OMIM:273120 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Woolly hair |
OMIM:611528 |
| Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... |
ORPHA:1227 |
| Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Lipoma, Splenomegaly, Nephroblastoma |
OMIM:612918 |
| Diamond-Blackfan Anemia 21 |
|
Erythroid hypoplasia, Obesity, Anemia, Thrombocytopenia, Osteosarcoma |
OMIM:620072 |
| X-Linked Centronuclear Myopathy |
|
Necklace skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, Weakness of... |
ORPHA:596 |
| Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
| Carpenter Syndrome 1 |
|
Short stature, External genital hypoplasia, Precocious puberty, Cryptorchidism, Obesity |
OMIM:201000 |
| Familial Mediterranean Fever |
|
Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Abdominal pain... |
OMIM:249100 |
| Hennekam Syndrome |
|
Benign neoplasm of the central nervous system, Lymphopenia, Camptodactyly of finger, Splenomegaly... |
ORPHA:2136 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Deep philtrum, Downturned corners of mouth, Wide mouth, Thin vermilion border, Neonatal hyperbili... |
ORPHA:163956 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased circulating ferritin concentrati... |
OMIM:194380 |
| Mirizzi Syndrome |
|
Hyperbilirubinemia |
ORPHA:521219 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Septate vagina, Uterus didelphys, Low posterior hairline, Neonatal death, Mic... |
OMIM:617925 |
| Lethal Congenital Contracture Syndrome 5 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Centrally nucleate... |
OMIM:615368 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Neonatal insulin-dependent diabetes mellitus, Postnatal growth retardation, Precocious puberty, C... |
ORPHA:96191 |
| Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Woolly hair, Fragile nails, Nail dystrophy, Leukonychia |
OMIM:615821 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Cystathioni... |
OMIM:277400 |
| Trichohepatoneurodevelopmental Syndrome |
|
Curly hair, Cholelithiasis, Synophrys, Coarse hair, Long eyelashes, Hypoplastic nipples, Decrease... |
OMIM:618268 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym... |
ORPHA:447 |
| Primary Biliary Cholangitis |
|
Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia |
ORPHA:186 |
| Degcags Syndrome |
|
Micrognathia, Protruding tongue, Wide mouth, High palate, Thick vermilion border, Hyperbilirubine... |
OMIM:619488 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Inguinal hernia, Increased mean platelet volume, Abnormality of the endocrine system, Patent duct... |
ORPHA:487796 |
| Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Paraganglioma, Weight loss |
ORPHA:94080 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll... |
OMIM:187900 |
| Trichothiodystrophy |
|
Ridged nail, Sparse scalp hair, Split nail, Brittle hair, Concave nail, Cryptorchidism, Gonadal d... |
ORPHA:33364 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta... |
ORPHA:309854 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis, Abnormal mitochondrial shape |
OMIM:610773 |
| Thymic Carcinoma |
|
Neoplasm of the thymus, Weight loss |
ORPHA:99868 |
| Immune Thrombocytopenia |
|
Thrombocytopenia |
ORPHA:3002 |
| Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... |
OMIM:207750 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... |
OMIM:616084 |
| Odontoonychodermal Dysplasia |
|
Ridged nail, Sparse scalp hair, Dry hair, Thin nail, Short nail, Sparse eyebrow, Fine hair, Nail ... |
OMIM:257980 |
| Hyperlipoproteinemia, Type I |
|
Splenomegaly, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Episodic abdominal pain, Lactescent s... |
OMIM:238600 |
| Reynolds Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Calcinosis, Splenomegaly, Jaundice, Biliary cirrhosi... |
OMIM:613471 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Hepatomegaly, Decreased hemoglobin concentration, Cryptorchidism, Decreased body weight, Thromboc... |
OMIM:619005 |
| Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Sparse hair, Brittle hair, Absent nipple, Absent hair |
OMIM:614940 |
| Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Central core regions in muscle fibers, Muscular dystrophy |
OMIM:159050 |
| Meningioma |
|
Decreased circulating cortisol level, Urinary incontinence, Reduced circulating prolactin concent... |
ORPHA:2495 |
| Ehlers-Danlos Syndrome, Classic-Like |
|
Increased connective tissue, Hiatus hernia, Proximal amyotrophy, Atrophic scars, Arthralgia, Musc... |
OMIM:606408 |
| Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Remnants of the hyaloid vascular system, Cleft palate, High, narrow palate |
ORPHA:2714 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Decreased activity o... |
OMIM:616239 |
| Neurooculorenal Syndrome |
|
Conjugated hyperbilirubinemia, Recurrent hypoglycemia, Broad philtrum, Micrognathia |
OMIM:620305 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Conjugated hyperbilirubinemia, Hyperkalemia |
OMIM:608885 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Sparse eyelashes, Short stature, Fine hair, Sparse hair, Failure to thrive |
OMIM:257850 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Precocious puberty, Abnormality of neuronal migration, Obesity |
ORPHA:163681 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Failure to thrive, Brittle hair |
OMIM:236200 |
| Erythrokeratodermia Variabilis Et Progressiva 7 |
|
Woolly hair, Dystrophic toenail |
OMIM:619209 |
| Myopathy, Myofibrillar, 4 |
|
Autophagic vacuoles, Elevated circulating creatine kinase concentration, Myofibrillar myopathy, E... |
OMIM:609452 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Curly hair, Short stature, Highly arched eyebrow, Low posterior hairline, Intrauterine growth ret... |
OMIM:617360 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Renal insufficiency, Streak ovary, Hypospadias, Obesity, Gonadoblastoma, Nephropathy, Nephroblastoma |
OMIM:194072 |
| Senior-Loken Syndrome 3 |
|
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisi... |
OMIM:606995 |
| Acute Liver Failure |
|
Elevated hepatic transaminase, Hypoglycemia, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellula... |
ORPHA:90062 |
| Hallermann-Streiff Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Small for gestational age, Proportionate short stature, Spar... |
OMIM:234100 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Postnatal growth retardation, Short stature, Thick eyebrow, Fine hair |
OMIM:614800 |
| X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Dry hair, Brittle hair, Short stature, Growth delay, Nail dystrophy |
ORPHA:93947 |
| Microphthalmia, Syndromic 2 |
|
Short stature, Hypospadias, Septate vagina, Cryptorchidism, Laterally curved eyebrow, Adrenal ins... |
OMIM:300166 |
| Ablepharon Macrostomia Syndrome |
|
Absent eyebrow, Hypoplasia of penis, Ambiguous genitalia, Abnormal hair pattern, Absent eyelashes... |
ORPHA:920 |
| Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Short stature, Decreased response to gr... |
OMIM:146510 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Cryptorchidism, Vaginal atresia |
ORPHA:3301 |
| Cockayne Syndrome B |
|
Dry hair, Severe short stature, Small for gestational age, Postnatal growth retardation, Abnormal... |
OMIM:133540 |
| Secondary Short Bowel Syndrome |
|
Weight loss, Growth delay, Central hypothyroidism, Primary hypothyroidism, Failure to thrive |
ORPHA:95427 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Cyanosis, Limb-girdle muscle weakness, Distal amyotrophy, Muscle fiber atrophy, Arthrogryposis mu... |
ORPHA:98914 |
| Congenital Myasthenic Syndrome |
|
Cyanosis, Limb-girdle muscle weakness, Distal amyotrophy, Muscle fiber atrophy, Arthrogryposis mu... |
ORPHA:590 |
| Focal Myositis |
|
Weight loss |
ORPHA:48918 |
| Recon Progeroid Syndrome |
|
Thrombocytopenia, Anemia, Skeletal muscle atrophy |
OMIM:620370 |
| Fanconi Anemia, Complementation Group B |
|
Hypergonadotropic hypogonadism, Aplastic anemia, Patent ductus arteriosus, Hypogonadism, Thromboc... |
OMIM:300514 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Precocious puberty, Obesity, Hydronephrosis, Type I diabetes mellitus, Moderate albuminuria, Dent... |
OMIM:619269 |
| Glycogen Storage Disease Ic |
|
Hepatomegaly, Hypoglycemia, Cyclic neutropenia, Chronic pancreatitis, Hyperlipidemia, Xanthelasma... |
OMIM:232240 |
| Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Curly hair |
OMIM:256850 |
| Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... |
OMIM:119500 |
| Myhre Syndrome |
|
Abnormal penis morphology, Severe short stature, Hypospadias, External genital hypoplasia, Precoc... |
ORPHA:2588 |
| Perry Syndrome |
|
Weight loss |
ORPHA:178509 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Frontal balding, Precocious puberty, Cryptorchidism, Synophrys, Aplasia/Hypoplasia of the gallbla... |
ORPHA:96092 |
| Pachyonychia Congenita 2 |
|
Sparse scalp hair, Dry hair, Subungual hyperkeratosis, Sparse eyebrow, Nail dystrophy, Nail dyspl... |
OMIM:167210 |
| Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Coarse hair, Short stature |
ORPHA:1185 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Cholelithiasis, Weight loss |
ORPHA:65682 |
| Huntington Disease-Like 1 |
|
Weight loss |
ORPHA:157941 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Activating thyroi... |
ORPHA:424 |
| Basilicata-Akhtar Syndrome |
|
Precocious puberty |
OMIM:301032 |
| Senior-Loken Syndrome 1 |
|
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... |
OMIM:266900 |
| Cerebellofaciodental Syndrome |
|
Sparse eyebrow, Cryptorchidism, Short stature, Fine hair |
OMIM:616202 |
| Mucopolysaccharidosis, Type Iiic |
|
Synophrys, Coarse hair, Hirsutism, Hypertrichosis |
OMIM:252930 |
| Opitz-Kaveggia Syndrome |
|
Short stature, Hypospadias, Cryptorchidism, Fine hair, Gray matter heterotopia, Frontal upsweep o... |
OMIM:305450 |
| Pseudomyxoma Peritonei |
|
Weight loss |
ORPHA:26790 |
| Hermansky-Pudlak Syndrome 5 |
|
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia |
OMIM:614074 |
| Phakomatosis Pigmentokeratotica |
|
Precocious puberty, Cryptorchidism, Patchy alopecia, Pheochromocytoma |
ORPHA:2874 |
| Von Willebrand Disease, Type 3 |
|
Impaired platelet aggregation, Thrombocytopenia |
OMIM:277480 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Myositis, Absent muscle fiber merosin, Facial palsy, Increased connective tissue, Flexion contrac... |
ORPHA:258 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
High nonceruloplasmin-bound serum copper, Thrombocytopenia, Limb hypertonia |
ORPHA:457351 |
| Mucopolysaccharidosis, Type Iiib |
|
Synophrys, Coarse hair, Hirsutism |
OMIM:252920 |
| Marshall-Smith Syndrome |
|
Failure to thrive, Brittle hair, Short stature, Highly arched eyebrow, Bilateral cryptorchidism, ... |
OMIM:602535 |
| Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Intrinsic hand muscle atrop... |
OMIM:620285 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Conjugated hyperbilirubinemia, Retinal degeneration |
OMIM:208500 |
| Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Myelodysplasia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence ... |
OMIM:105650 |
| Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Fine hair |
ORPHA:3236 |
| Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Streak ovary, Decreased response to growth hormone st... |
ORPHA:3464 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... |
OMIM:208540 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Skeletal muscle atrophy, Myositis, Elevated circulating creatine kinase concentration, Centrally ... |
OMIM:615422 |
| Amyotrophic Lateral Sclerosis 20 |
|
Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles |
OMIM:615426 |
| Cornelia De Lange Syndrome 1 |
|
Inguinal hernia, Congenital diaphragmatic hernia, Hiatus hernia, Cryptorchidism, Elbow flexion co... |
OMIM:122470 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Increased circulating ferritin concentration, Hypochromic microcytic anemia, Thrombocytopenia |
ORPHA:3240 |
| Cartilage-Hair Hypoplasia |
|
Fair hair, Sparse facial hair, Absent pubertal growth spurt, Sparse eyelashes, Sparse eyebrow, Fi... |
OMIM:250250 |
| Intellectual Disability, Buenos-Aires Type |
|
Hyperconvex thumb nails, Abnormal fingernail morphology, Short stature, Fine hair |
ORPHA:3079 |
| Mucopolysaccharidosis, Type Iiia |
|
Synophrys, Coarse hair, Hirsutism |
OMIM:252900 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Concave nail, Absent eyelashes, Sp... |
OMIM:305100 |
| Noonan Syndrome |
|
Abnormal hair quantity, Short stature, Hypogonadotropic hypogonadism, Cryptorchidism, Low posteri... |
ORPHA:648 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Short stature, Postnatal growth retardation, Fine hair, Premature graying of hair, Nail dystrophy... |
OMIM:612199 |
| Quebec Platelet Disorder |
|
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
| Catastrophic Antiphospholipid Syndrome |
|
Coombs-positive hemolytic anemia, Arthralgia, Microangiopathic hemolytic anemia, Gangrene, Thromb... |
ORPHA:464343 |
| Noonan Syndrome 1 |
|
Male infertility, Short stature, Hypospadias, Failure to thrive in infancy, Postnatal growth reta... |
OMIM:163950 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypercalciuria, Medullary nephrocalcinosis, Increased circulating renin level, Polyuria |
OMIM:300971 |
| Cap Myopathy |
|
Facial palsy, Abnormal muscle fiber morphology, Lower limb amyotrophy, Generalized amyotrophy, In... |
ORPHA:171881 |
| Jacobsen Syndrome |
|
Inguinal hernia, Cryptorchidism, Bone marrow hypocellularity, Annular pancreas, Thrombocytopenia |
ORPHA:2308 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Exercise intolerance, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration... |
OMIM:616812 |
| Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... |
ORPHA:91495 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Sparse hair, Abnormal fingernail morphology, Short stature, Fine hair |
ORPHA:1806 |
| Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Testicular neoplasm, Primary hyperparathyroidism, Abnormal parathyroid... |
ORPHA:143 |
| Benign Samaritan Congenital Myopathy |
|
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers |
ORPHA:324581 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Hyperbilirubinemia |
ORPHA:562639 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Hashimoto thyroiditis, Weight loss, Hydrocele testis, Retrograde ejaculation, Impotence, Varicocele |
ORPHA:49041 |
| Familial Colorectal Cancer Type X |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Pituitary adenoma, Ovarian neoplasm, Weight ... |
ORPHA:440437 |
| Neuroendocrine Tumor Of The Colon |
|
Increased serum serotonin, Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss |
ORPHA:100080 |
| Cardiofaciocutaneous Syndrome 1 |
|
Absent eyebrow, Curly hair, Short stature, Slow-growing hair, Absent eyelashes, Low posterior hai... |
OMIM:115150 |
| Takayasu Arteritis |
|
Weight loss |
ORPHA:3287 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Coarse hair, Short stature, Low anterior hairline, Generalized hirsutism |
ORPHA:2095 |
| Craniolenticulosutural Dysplasia |
|
Brittle hair, Short stature, Cryptorchidism, Coarse hair, Sparse hair |
OMIM:607812 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Curly hair, Short stature, Precocious puberty, Low anterior hairline, Growth delay, Long eyelashe... |
OMIM:619950 |
| Holoprosencephaly 2 |
|
Remnants of the hyaloid vascular system, Aplasia of the premaxilla, Submucous cleft hard palate, ... |
OMIM:157170 |
| Chand Syndrome |
|
Curly hair, Nail dysplasia |
OMIM:214350 |
| Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
| Lateral Meningocele Syndrome |
|
Cryptorchidism, Coarse hair, Short stature |
OMIM:130720 |
| Immunodeficiency 17 |
|
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chronic decreased ciru... |
OMIM:615607 |
| Cerebrofaciothoracic Dysplasia |
|
Short stature, Abnormal hair pattern, Synophrys, Low posterior hairline, Coarse hair, Thick eyebrow |
ORPHA:1394 |
| Aicardi-Goutieres Syndrome 9 |
|
Weight loss, Intrauterine growth retardation, Micropenis, Failure to thrive, Hypothyroidism |
OMIM:619487 |
| Hermansky-Pudlak Syndrome |
|
Hypopigmentation of hair, Menometrorrhagia, Long eyelashes, Weight loss |
ORPHA:79430 |
| 16Q24.3 Microdeletion Syndrome |
|
Cryptorchidism, Increased mean corpuscular volume, Thrombocytopenia |
ORPHA:261250 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Sparse scalp hair, Failure to thrive, Sparse eyelashes, Abnormal cortical gyration, Sparse eyebro... |
OMIM:210710 |
| Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Failure to thrive, Abnormal mitochondrial shape |
ORPHA:543470 |
| Kabuki Syndrome |
|
Hypoplasia of penis, Short stature, Hypospadias, Highly arched eyebrow, Precocious puberty, Crypt... |
ORPHA:2322 |
| Beemer-Ertbruggen Syndrome |
|
Cryptorchidism, Thrombocytopenia |
ORPHA:1237 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Splenomegaly, Decreased circulating total IgM, Hypocalcemic seizures, Decreased cir... |
OMIM:612301 |
| Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Abnormality of T cell physiology, Spleno... |
OMIM:181000 |
| Ivic Syndrome |
|
Leukocytosis, Thrombocytopenia |
ORPHA:2307 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Exercise intolerance, Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal mus... |
OMIM:607459 |
| Eec Syndrome |
|
Short stature, Slow-growing hair, Decreased response to growth hormone stimulation test, Hypospad... |
ORPHA:1896 |
| Lynch Syndrome |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Pituitary adenoma, Ovarian neoplasm, Weight ... |
ORPHA:144 |
| Weaver Syndrome |
|
Deep-set nails, Thin nail, Cryptorchidism, Fine hair, Hydrocele testis, Sparse hair |
OMIM:277590 |
| Olmsted Syndrome 2 |
|
Sparse hair, Woolly hair, Alopecia universalis |
OMIM:619208 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss |
ORPHA:312 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Exercise intolerance, Elevated circulating creatine kinase concentration, Elevated circulating ac... |
ORPHA:228302 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Conjugated hyperbilirubinemia |
ORPHA:168577 |
| Acquired Central Diabetes Insipidus |
|
Diabetes insipidus, Weight loss |
ORPHA:95626 |
| Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... |
ORPHA:785 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia |
OMIM:605432 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Inguinal hernia, Widened atrophic scar, Decreased muscle mass, Elbow flexion contracture, Limb mu... |
ORPHA:1900 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Nephrocalcinosis, Polyuria |
OMIM:620152 |
| Mucopolysaccharidosis, Type Vii |
|
Thick eyebrow, Severe short stature, Short stature, Postnatal growth retardation, Coarse hair, Hi... |
OMIM:253220 |
| Fraser Syndrome 1 |
|
Absent eyebrow, Hypospadias, Abnormal cortical gyration, Absent eyelashes, Cryptorchidism, Extens... |
OMIM:219000 |
| Marfan Syndrome |
|
Slender build, Cachexia |
ORPHA:558 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Skeletal muscle atrophy, Hypogonadotropic hypogonadism, Facial palsy, Abnormal muscle fiber morph... |
ORPHA:3068 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Ectopic kidney, Gastrointestinal inflammation, Glucose intolerance, Inflammation of the large int... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Ectopic kidney, Gastrointestinal inflammation, Glucose intolerance, Inflammation of the large int... |
ORPHA:99228 |
| Monosomy X |
|
Ectopic kidney, Gastrointestinal inflammation, Glucose intolerance, Inflammation of the large int... |
ORPHA:99226 |
| Turner Syndrome |
|
Ectopic kidney, Gastrointestinal inflammation, Glucose intolerance, Inflammation of the large int... |
ORPHA:881 |
| Inflammatory Pseudotumor Of The Liver |
|
Diabetes mellitus, Weight loss |
ORPHA:90003 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Hypoplastic labia majora, Vaginal atresia, Fused labia minora |
OMIM:207410 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Dry hair, Hypopigmentation of hair, Short stature, Widow's peak, Coarse hair, Shawl scrotum |
ORPHA:1974 |
| Familial Gestational Hyperthyroidism |
|
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... |
ORPHA:99819 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... |
OMIM:181405 |
| Stickler Syndrome |
|
Slender build, Short stature, Cachexia |
ORPHA:828 |
| Noonan Syndrome 2 |
|
Curly hair, Short stature, Sparse eyebrow, Cryptorchidism, Low posterior hairline |
OMIM:605275 |
| Williams-Beuren Syndrome |
|
Flexion contracture, Nephrocalcinosis, Glucose intolerance, Early onset of sexual maturation, Gas... |
OMIM:194050 |
| Neuroendocrine Tumor Of The Rectum |
|
Increased serum serotonin, Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Increased serum serotonin, Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss |
ORPHA:100082 |
| Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Precocious puberty, Rectovaginal fistula, Thick eyebrow |
OMIM:608980 |
| Noonan Syndrome 10 |
|
Sparse eyebrow, Curly hair, Short stature, Cryptorchidism |
OMIM:616564 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Sparse scalp hair, Mild postnatal growth retardation, Bilateral cryptorchidism, Hydrometrocolpos,... |
OMIM:150230 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Skeletal muscle atrophy, Nemaline bodies, Abnormality of skeletal muscle fiber size, Increased en... |
OMIM:620278 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis |
OMIM:300367 |
| Acromelic Frontonasal Dysostosis |
|
Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Cleft upper lip, Cleft palate, U... |
OMIM:603671 |
| Osteosarcoma |
|
Weight loss |
ORPHA:668 |
| Mucolipidosis Type Ii |
|
Dry hair, Short stature, Postnatal growth retardation, White hair, Fine hair, Weight loss |
ORPHA:576 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Woolly hair |
OMIM:607450 |
| Dystonia-Aphonia Syndrome |
|
Macroglossia, Abnormal mitochondrial shape |
ORPHA:412217 |
| Kaposi Sarcoma |
|
Weight loss |
ORPHA:33276 |
| Holocarboxylase Synthetase Deficiency |
|
Thrombocytopenia, Hyperammonemia |
OMIM:253270 |
| Argininosuccinic Aciduria |
|
Failure to thrive, Dry hair, Brittle hair, Trichorrhexis nodosa |
OMIM:207900 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Vaginal neoplasm, Abnormality of the female genitalia, Weight loss, Failure to thrive, Uterine ne... |
ORPHA:1018 |
| Hajdu-Cheney Syndrome |
|
Abnormal fingernail morphology, Short stature, Hypospadias, Synophrys, Low anterior hairline, Coa... |
ORPHA:955 |
| Thymoma |
|
Neoplasm of the thyroid gland, Prostate neoplasm, Weight loss |
ORPHA:99867 |
| Chronic Beryllium Disease |
|
Weight loss |
ORPHA:133 |
| Adams-Oliver Syndrome 1 |
|
Alopecia, Supernumerary nipple, Pachygyria, Small nail, Polymicrogyria, Imperforate hymen |
OMIM:100300 |
| Myhre Syndrome |
|
Short stature, Small for gestational age, Cryptorchidism, Obesity, Fine hair, Birth length less t... |
OMIM:139210 |
| Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Diabetes mellitus, Ovarian carcinoma, Weight loss |
ORPHA:1333 |
| Ppoma |
|
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Abnormality of the t... |
ORPHA:97278 |
| Roberts Syndrome |
|
Progressive flexion contractures, Cryptorchidism, Knee flexion contracture, Midface capillary hem... |
ORPHA:3103 |
| Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Maternal diabetes, Insulin-dependent but ketosis-resistant diabetes, W... |
ORPHA:103918 |
| Erdheim-Chester Disease |
|
Hypogonadotropic hypogonadism, Diabetes insipidus, Weight loss |
ORPHA:35687 |
| Naxos Disease |
|
Subungual hyperkeratosis, Curly hair, Sparse eyebrow, Onycholysis, Nail dystrophy, Woolly hair, S... |
OMIM:601214 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Abnormal hair whorl, Aplasia of the vagina, Aplasia of the uterus |
ORPHA:457284 |
| Manitoba Oculotrichoanal Syndrome |
|
Vaginal atresia, Abnormality of the hairline |
OMIM:248450 |
| Orofaciodigital Syndrome I |
|
Alopecia, Dry hair, Short stature, Abnormal cortical gyration, Pancreatic cysts, Ovarian cyst, Gr... |
OMIM:311200 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Failure to thrive, Postnatal growth retardation, Biliary hyperplasia, Cryptorchidism, Coarse hair... |
ORPHA:83617 |
| Multiple Sulfatase Deficiency |
|
Coarse hair, Short stature, Thick eyebrow |
ORPHA:585 |
| Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
| Senior-Boichis Syndrome |
|
Increased total bilirubin |
ORPHA:84081 |
| Liposarcoma |
|
Weight loss |
ORPHA:69078 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Sparse eyebrow, Hyperconvex fingernails... |
ORPHA:1071 |
| Leptospirosis |
|
Hepatomegaly, Abdominal pain, Jaundice, Rhabdomyolysis, Hepatitis, Chills, Lymphadenopathy, Hyper... |
ORPHA:509 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Weight loss |
ORPHA:103910 |
| Giant Cell Arteritis |
|
Alopecia, Diabetes insipidus, Weight loss |
ORPHA:397 |
| Oculodentodigital Dysplasia |
|
Curly hair, Brittle hair, Abnormal fingernail morphology, Slow-growing hair, Fine hair, Sparse ha... |
ORPHA:2710 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating... |
OMIM:619534 |
| Revesz Syndrome |
|
Nail pits, Fine hair, Nail dystrophy, Sparse hair, Intrauterine growth retardation, Ridged finger... |
OMIM:268130 |
| Polyarteritis Nodosa |
|
Weight loss |
ORPHA:767 |
| Apert Syndrome |
|
Rhizomelic arm shortening, Vaginal atresia, Cryptorchidism |
OMIM:101200 |
| Onychotrichodysplasia And Neutropenia |
|
Curly hair, Curly eyelashes, Concave nail, Sparse pubic hair, Short eyelashes, Trichorrhexis nodo... |
OMIM:258360 |
| Grfoma |
|
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Neoplasm of the thym... |
ORPHA:97261 |
| Fraser Syndrome |
|
Hypoplasia of penis, Small scrotum, Hypospadias, Abnormal hair pattern, Cryptorchidism, Bicornuat... |
ORPHA:2052 |
| Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Coarse hair, Nail dystrophy, Nail dysplasia, Sparse hair, Chronic monilial nail infection |
OMIM:158310 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Weight loss, Adrenal pheochromocyt... |
ORPHA:276621 |
| Malignant Peritoneal Mesothelioma |
|
Weight loss |
ORPHA:168811 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Weight l... |
ORPHA:29072 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Hepatitis, Cholestasis, Obesity, Acute hepatic steatosis, Cholesterol galls... |
ORPHA:209902 |
| Neuroendocrine Tumor Of Stomach |
|
Increased circulating ACTH level, Weight loss, Increased serum serotonin, Paraganglioma, Atypical... |
ORPHA:100075 |
| Mucopolysaccharidosis, Type Iiid |
|
Thick eyebrow, Short stature, Synophrys, Coarse hair, Facial hirsutism, Hirsutism |
OMIM:252940 |
| Osteogenesis Imperfecta |
|
Inguinal hernia, Small for gestational age, Abnormal dental enamel morphology, Trigeminal neuralg... |
ORPHA:666 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Exercise intolerance, Skeletal muscle atrophy, Hypergonadotropic hypogonadism, Facial palsy, Ragg... |
OMIM:157640 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Highly arched eyebrow, Large for gestational age, Fine hair, Hydrocele testis, Hypoplastic nipple... |
OMIM:280000 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Weight loss |
ORPHA:216866 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Weight loss |
ORPHA:411703 |
| Craniolenticulosutural Dysplasia |
|
Sparse hair, Coarse hair, Brittle hair, Short stature |
ORPHA:50814 |
| Currarino Syndrome |
|
Bicornuate uterus, Rectovaginal fistula, Septate vagina |
OMIM:176450 |
| Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Abnormal mitochondrial shape |
ORPHA:485421 |
| Chondrodysplasia Punctata, Autosomal Dominant |
|
Sparse hair, Coarse hair, Moderate postnatal growth retardation |
OMIM:118650 |
| Cranioectodermal Dysplasia 3 |
|
Rhizomelia, Short nail, Short stature, Broad nail, Fine hair, Sparse hair |
OMIM:614099 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Retinal nonattachment, Remnants of the hyaloid vascular system, Iris coloboma |
OMIM:221900 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Weight loss, Carcinoid tumor, Increased serum serotonin, Neuroendocrine neoplasm |
ORPHA:100085 |
| Estrogen Resistance |
|
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... |
OMIM:615363 |
| Orofaciodigital Syndrome Type 3 |
|
Abnormality of hair texture |
ORPHA:2752 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Short stature, Vaginal atresia, Nail dysplasia, Hydrometrocolpos |
OMIM:617088 |
| Al Amyloidosis |
|
Abnormal salivary gland morphology, Autonomic erectile dysfunction, Weight loss |
ORPHA:85443 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating creatine kina... |
OMIM:613154 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Alopecia, Hypospadias, Decreased response to growth hormone stimulation test, Testicular neoplasm... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Alopecia, Hypospadias, Decreased response to growth hormone stimulation test, Testicular neoplasm... |
ORPHA:363958 |
| Thrombocytopenia 6 |
|
Thrombocytopenia |
OMIM:616937 |
| Fibular Hemimelia |
|
Pain, Impairment of activities of daily living, Thrombocytopenia |
ORPHA:93323 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
| Neuromuscular Oculoauditory Syndrome |
|
Elevated circulating creatine kinase concentration, Knee flexion contracture, Calf muscle hypertr... |
OMIM:618733 |
| Chand Syndrome |
|
Curly hair, Imperforate hymen, Nail dysplasia |
ORPHA:1401 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Precocious puberty, Long eyelashes, Rhizomelia, Hypospadias |
OMIM:615877 |
| Wolf-Hirschhorn Syndrome |
|
Short stature, Hypospadias, Highly arched eyebrow, Small for gestational age, Precocious puberty,... |
OMIM:194190 |
| Vocal Cord And Pharyngeal Distal Myopathy |
|
Abnormal morphology of musculature of pharynx, Abnormality of the calf musculature, Exercise-indu... |
ORPHA:600 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia |
OMIM:271520 |
| Mowat-Wilson Syndrome |
|
Bifid scrotum, Short stature, Hypospadias, Septate vagina, Periventricular heterotopia, Cryptorch... |
ORPHA:2152 |
| Witteveen-Kolk Syndrome |
|
Medial flaring of the eyebrow, Short stature, Hyperconvex nail, Decreased response to growth horm... |
OMIM:613406 |
| Mucolipidosis Ii Alpha/Beta |
|
Brittle hair, Sparse eyebrow, Growth delay, Severe postnatal growth retardation, Sparse hair, Fai... |
OMIM:252500 |
| Coffin-Siris Syndrome 1 |
|
Sparse scalp hair, Dry hair, Clitoral hypertrophy, Short stature, Hypospadias, Postnatal growth r... |
OMIM:135900 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Centrally nucleated skeletal muscle fibers, Night sweats, Intrinsic hand muscle atrophy, Triceps ... |
OMIM:619574 |
| Thrombocytopenia 1 |
|
Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet volume,... |
OMIM:313900 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Thrombocytopenia |
ORPHA:3320 |
| Yao Syndrome |
|
Weight loss |
OMIM:617321 |
| Oculopharyngodistal Myopathy 1 |
|
Autophagic vacuoles, Elevated circulating creatine kinase concentration, Hypercapnia, Facial pals... |
OMIM:164310 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
| Aicardi Syndrome |
|
Postnatal growth retardation, Precocious puberty, Gray matter heterotopia, Pachygyria, Polymicrog... |
OMIM:304050 |
| Pierson Syndrome |
|
Retinal detachment, Remnants of the hyaloid vascular system, Retinal hemorrhage, Posterior lentic... |
OMIM:609049 |
| Zttk Syndrome |
|
Absent gallbladder, Polyuria, Unilateral renal agenesis, Flexion contracture, Chronic diarrhea, H... |
OMIM:617140 |
| Amyotrophic Lateral Sclerosis 21 |
|
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, H... |
OMIM:606070 |
| Pyomyositis |
|
Weight loss, Testicular teratoma |
ORPHA:764 |
| Perry Syndrome |
|
Weight loss |
OMIM:168605 |
| Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Perianal abscess, Leukocytosis, Peritonitis, Recurrent tonsillitis, Bone ... |
ORPHA:2968 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Normochromic anemia, Hypoalbuminemia, Thrombocytopenia |
OMIM:254900 |
| Wild Type Attr Amyloidosis |
|
Weight loss |
ORPHA:330001 |
| Alport Syndrome 1, X-Linked |
|
Hypoparathyroidism, Diffuse leiomyomatosis, Thrombocytopenia |
OMIM:301050 |
| Nephroblastoma |
|
Weight loss |
ORPHA:654 |
| Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Hypothyroidism, Dry hair, Low anterior hairline |
OMIM:618569 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Woolly hair |
OMIM:610193 |
| Loeffler Endocarditis |
|
Weight loss |
ORPHA:75566 |
| Tuberous Sclerosis 1 |
|
Precocious puberty, Adenoma sebaceum, Preauricular hair displacement, Hypothyroidism, Subungual f... |
OMIM:191100 |
| Eosinophilic Gastroenteritis |
|
Weight loss |
ORPHA:2070 |
| Scalp-Ear-Nipple Syndrome |
|
Short stature, Sparse axillary hair, Sparse pubic hair, Fine hair, Patchy alopecia, Breast aplasi... |
OMIM:181270 |
| Danon Disease |
|
Exercise intolerance, Myocardial necrosis, Elevated circulating creatine kinase concentration, Ca... |
OMIM:300257 |
| Pemphigus Vulgaris |
|
Weight loss |
ORPHA:704 |
| Pulmonary Alveolar Microlithiasis |
|
Gonadal calcification, Testicular microlithiasis, Decreased fertility, Weight loss |
ORPHA:60025 |
| Focal Dermal Hypoplasia |
|
Ridged nail, Brittle hair, Short stature, Supernumerary nipple, Cryptorchidism, Clitoral hypoplas... |
OMIM:305600 |
| Galloway-Mowat Syndrome 9 |
|
Coarse hair |
OMIM:619603 |
| Igg4-Related Aortitis |
|
Weight loss |
ORPHA:449400 |
| Oromandibular Dystonia |
|
Weight loss |
ORPHA:93958 |
| Choreoacanthocytosis |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
ORPHA:2388 |
| Neuroocular Syndrome |
|
Remnants of the hyaloid vascular system, Short uvula, Lens coloboma, Submucous cleft hard palate,... |
OMIM:619539 |
| Glucose-Galactose Malabsorption |
|
Failure to thrive, Weight loss |
ORPHA:35710 |
| African Trypanosomiasis |
|
Alopecia, Abnormality of the menstrual cycle, Abnormality of the endocrine system, Abnormality of... |
ORPHA:3385 |
| Congenital Tufting Enteropathy |
|
Failure to thrive, Weight loss |
ORPHA:92050 |
| Rheumatoid Arthritis |
|
Weight loss |
OMIM:180300 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bifid scrotum, Failure to thrive, Short stature, Hypospadias, Septate vagina, Periventricular het... |
ORPHA:261537 |
| Peters-Plus Syndrome |
|
Hypoplasia of the vagina, Rhizomelia, Bilobate gallbladder, Hypospadias, Postnatal growth retarda... |
OMIM:261540 |
| Ménétrier Disease |
|
Weight loss |
ORPHA:2494 |
| Aicardi Syndrome |
|
Precocious puberty, Pachygyria, Delayed puberty, Polymicrogyria, Sparse lateral eyebrow |
ORPHA:50 |
| Neuroblastoma, Susceptibility To, 1 |
|
Failure to thrive, Weight loss |
OMIM:256700 |
| Fatal Familial Insomnia |
|
Weight loss |
OMIM:600072 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Short stature, Hypospadias, Hypoplastic toenails, Cryptorchidism, Growth delay, Hydrocele testis,... |
OMIM:619522 |
| Early Infantile Epileptic Encephalopathy |
|
Precocious puberty, Pachygyria, Absent thumbnail, Micropenis, Failure to thrive |
ORPHA:1934 |
| Native American Myopathy |
|
Skeletal muscle atrophy, Cryptorchidism, Abnormality of skeletal muscle fiber size, Congenital co... |
ORPHA:168572 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Neonatal alloimmune thrombocytopenia |
ORPHA:853 |
| Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Weight loss |
ORPHA:324964 |
| Primary Intestinal Lymphangiectasia |
|
Growth delay, Weight loss |
ORPHA:90362 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Bilateral cryptorchidism, Myopathy, Unilateral cryptorchidism, Centrally nucleated skeletal muscl... |
OMIM:300219 |
| Coffin-Lowry Syndrome |
|
Short stature, Highly arched eyebrow, Hyperconvex fingernails, Coarse hair, Decreased body weight... |
OMIM:303600 |
| Lethal Congenital Contracture Syndrome 9 |
|
Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Flexion contracture, Inc... |
OMIM:616503 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Curly hair |
ORPHA:85184 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Precocious puberty, Obesity |
ORPHA:369837 |
| Tetraamelia Syndrome 1 |
|
Adrenal gland agenesis, Hypoplasia of the fallopian tube, Vaginal atresia, Absent external genitalia |
OMIM:273395 |
| Refractory Celiac Disease |
|
Weight loss |
ORPHA:398063 |
| Oculodentodigital Dysplasia |
|
Dry hair, Slow-growing hair, Fine hair, Sparse hair, Fragile nails |
OMIM:164200 |
| Renpenning Syndrome 1 |
|
Brittle hair, Short stature, Hypospadias, Phimosis, Sparse hair, Decreased testicular size, Spars... |
OMIM:309500 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Sparse hair, Cryptorchidism, Precocious puberty, Nail dysplasia |
OMIM:616682 |
| Systemic Lupus Erythematosus |
|
Leukopenia, Hemolytic anemia, Thrombocytopenia, Lymphadenopathy |
ORPHA:536 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bifid scrotum, Failure to thrive, Short stature, Hypospadias, Highly arched eyebrow, Periventricu... |
ORPHA:261552 |
| Pneumocystosis |
|
Weight loss |
ORPHA:723 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Medial flaring of the eyebrow, Sparse scalp hair, Thick eyebrow, Curly hair, Decreased response t... |
OMIM:619503 |
| Melnick-Needles Syndrome |
|
Failure to thrive, Coarse hair, Stillbirth, Frontal hirsutism |
OMIM:309350 |
| Carney-Stratakis Syndrome |
|
Paraganglioma, Weight loss |
ORPHA:97286 |
| Neurofibromatosis Type 1 |
|
Abnormal hair quantity, Short stature, Abnormality of the endocrine system, Precocious puberty, C... |
ORPHA:636 |
| Lymphoid Interstitial Pneumonia |
|
Failure to thrive, Weight loss |
ORPHA:79128 |
| Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Increased body weight |
ORPHA:64745 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Weight loss |
ORPHA:183 |
| Juvenile Dermatomyositis |
|
Alopecia, Weight loss |
ORPHA:93672 |
| Mucopolysaccharidosis Type 3 |
|
Thick hair, Synophrys, Coarse hair, Generalized hirsutism, Hirsutism |
ORPHA:581 |
| Tropical Endomyocardial Fibrosis |
|
Cachexia |
ORPHA:75565 |
| Tolchin-Le Caignec Syndrome |
|
Precocious puberty, Thick eyebrow, Hirsutism |
OMIM:618971 |
| Myoglobinuria, Recurrent |
|
Ragged-red muscle fibers |
OMIM:550500 |
| Granulomatosis With Polyangiitis |
|
Prostatitis, Abnormality of the hypothalamus-pituitary axis, Diabetes insipidus, Weight loss |
ORPHA:900 |
| Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
| Costello Syndrome |
|
Deep-set nails, Curly hair, Short stature, Thin nail, Concave nail, Sparse hair, Failure to thriv... |
OMIM:218040 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Aplasia of the uterus |
ORPHA:3109 |
| Osteootohepatoenteric Syndrome |
|
Failure to thrive, Weight loss |
OMIM:619377 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Decreased renal tubular phosphate excretion, Nephrocalcinosis, Enamel hypoplasia, Increased renal... |
OMIM:211900 |
| Alveolar Echinococcosis |
|
Pancreatic cysts, Abnormal adrenal morphology, Weight loss |
ORPHA:284 |
| Ileal Neuroendocrine Tumor |
|
Small intestine carcinoid, Increased serum serotonin, Weight loss |
ORPHA:100078 |
| Glossopharyngeal Neuralgia |
|
Weight loss |
ORPHA:221098 |
| Cranioectodermal Dysplasia 1 |
|
Rhizomelia, Short nail, Thin nail, Slow-growing hair, Fine hair, Sparse hair |
OMIM:218330 |
| Tay-Sachs Disease |
|
Precocious puberty |
ORPHA:845 |
| Floating-Harbor Syndrome |
|
Short stature, Hypospadias, Small for gestational age, Precocious puberty, Cryptorchidism, Growth... |
ORPHA:2044 |
| Tuberous Sclerosis 2 |
|
Precocious puberty, Adenoma sebaceum, Hypothyroidism, Subungual fibromas |
OMIM:613254 |
| Gerstmann-Straussler Disease |
|
Weight loss |
OMIM:137440 |
| Orofaciodigital Syndrome Type 1 |
|
Alopecia, Brittle hair, Pancreatic cysts, Coarse hair, Sparse hair |
ORPHA:2750 |
| Cockayne Syndrome Type 3 |
|
Premature graying of hair, Dry hair, Mild postnatal growth retardation |
ORPHA:90324 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Curly hair, Short stature, Abnormal cortical gyration, Abnormal circulating thyroid hormone conce... |
ORPHA:480880 |
| Gallbladder Neuroendocrine Tumor |
|
Neuroendocrine neoplasm, Weight loss |
ORPHA:100086 |
| Reactive Arthritis |
|
Dystrophic fingernails, Abnormality of the nail, Weight loss |
ORPHA:29207 |
| Klatskin Tumor |
|
Weight loss |
ORPHA:99978 |
| Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Increased variability in muscle fiber diameter, Ragged-red muscle fibers |
ORPHA:70595 |
| Pallister-Killian Syndrome |
|
Sparse scalp hair, Alopecia, Small scrotum, Rhizomelia, Sparse eyelashes, Supernumerary nipple, M... |
OMIM:601803 |
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Mild postnatal growth retardation, Weight loss |
ORPHA:85408 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Weight loss |
ORPHA:67 |
| Simple Cryoglobulinemia |
|
Weight loss |
ORPHA:91139 |
| Chronic Graft Versus Host Disease |
|
Alopecia, Phimosis, Weight loss, Onycholysis, Nail dystrophy, Abnormal vagina morphology |
ORPHA:99921 |
| Malignant Atrophic Papulosis |
|
Weight loss |
ORPHA:679 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Curly hair, Absent gallbladder, Failure to thrive in infancy, Proportionate short stature, Sparse... |
ORPHA:500150 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Weight loss |
ORPHA:747 |
| Igg4-Related Kidney Disease |
|
Abnormality of the anterior pituitary, Thyroiditis, Weight loss, Sialadenitis, Prostatitis |
ORPHA:449395 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Growth delay, Abnormality of hair texture |
ORPHA:667 |
| Riddle Syndrome |
|
Short stature, Weight loss |
ORPHA:420741 |
| Full Nf2-Related Schwannomatosis |
|
Remnants of the hyaloid vascular system |
ORPHA:637 |
| Occipital Horn Syndrome |
|
Growth delay, Coarse hair, Pili torti |
OMIM:304150 |
| Vascular Ehlers-Danlos Syndrome |
|
Alopecia, Short stature, Hypospadias, Abnormality of hair texture, Abnormal eyelash morphology, C... |
ORPHA:286 |
| Pancreatoblastoma |
|
Pancreatic calcification, Weight loss |
ORPHA:677 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
White hair, Fine hair |
ORPHA:935 |
| Postinfectious Vasculitis |
|
Orchitis, Weight loss |
ORPHA:48435 |
| Malt Lymphoma |
|
Abnormality of the thyroid gland, Weight loss |
ORPHA:52417 |
| Hereditary Late-Onset Parkinson Disease |
|
Weight loss |
ORPHA:411602 |
| Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Synophrys, Hypoplastic sweat glands, Thick eyebrow, Abnormality of hair texture |
ORPHA:73223 |
| Williams Syndrome |
|
Hypoplasia of penis, Abnormal fingernail morphology, Short stature, Hypogonadotropic hypogonadism... |
ORPHA:904 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Growth delay, Weight loss |
ORPHA:309031 |
| Chime Syndrome |
|
Sparse hair, Fine hair |
ORPHA:3474 |
| Behçet Disease |
|
Orchitis, Weight loss |
ORPHA:117 |
| Granulomatosis With Polyangiitis |
|
Weight loss |
OMIM:608710 |
| Sponastrime Dysplasia |
|
Rhizomelia, Hypospadias, Small for gestational age, Precocious puberty, Disproportionate short-li... |
ORPHA:93357 |
| Rat-Bite Fever |
|
Parotitis, Weight loss |
ORPHA:31205 |
| Dermatomyositis |
|
Abnormal hair quantity, Abnormality of the nail, Weight loss |
ORPHA:221 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Renal phosphate wasting, Hyperphosphaturia, Abnormality of renal excretion, Enthesitis |
ORPHA:289176 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Onycholysis, Nail dystrophy |
OMIM:614748 |
| Early-Onset Autosomal Dominant Alzheimer Disease |
|
Deposits immunoreactive to beta-amyloid protein |
ORPHA:1020 |
| 17Q11 Microdeletion Syndrome |
|
Short stature, Precocious puberty, Glomus jugular tumor, Elevated circulating parathyroid hormone... |
ORPHA:97685 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Failure to thrive, Weight loss |
ORPHA:2020 |
| Nocardiosis |
|
Abnormality of the adrenal glands, Thyroiditis, Weight loss |
ORPHA:31204 |
| Primary Fanconi Renotubular Syndrome |
|
Growth delay, Weight loss |
ORPHA:3337 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Weight loss |
ORPHA:91500 |
| Singleton-Merten Syndrome 1 |
|
Muscle fiber atrophy, Cardiomegaly, Tendon rupture, Decreased body weight |
OMIM:182250 |
| Goodpasture Syndrome |
|
Weight loss |
OMIM:233450 |
