Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hirsutism, Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatos... |
OMIM:612526 |
Plin1-Related Familial Partial Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Infertility, Hyperinsulinemia, Lipoatrophy, Loss of gluteal ... |
ORPHA:280356 |
Lipodystrophy, Familial Partial, Type 3 |
|
Reduced subcutaneous adipose tissue, Hirsutism, Hyperinsulinemia, Type II diabetes mellitus, Insu... |
OMIM:604367 |
Lipe-Related Familial Partial Lipodystrophy |
|
Increased adipose tissue around the neck, Hyperlipidemia, Hepatomegaly, Decreased adiponectin lev... |
ORPHA:435660 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hyperlipidemia, Hepatomegaly, Insulin resistance, Oligomenorrhea, Decreased serum leptin, Lipodys... |
ORPHA:79085 |
Schizophrenia 19 |
|
Cognitive impairment |
OMIM:617629 |
Monoamine Oxidase A Deficiency |
|
Cognitive impairment |
ORPHA:3057 |
Lipodystrophy, Familial Partial, Type 4 |
|
Lipoatrophy, Oligomenorrhea, Hypertriglyceridemia, Lipodystrophy, Insulin-resistant diabetes mell... |
OMIM:613877 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hyperlipidemia, Pancreatitis, Hepatomegaly, Decreased adiponectin level, Loss of gluteal subcutan... |
ORPHA:435651 |
Lipodystrophy, Familial Partial, Type 1 |
|
Increased adipose tissue around the neck, Hepatomegaly, Loss of gluteal subcutaneous adipose tiss... |
OMIM:608600 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Diabetic ketoacidosis, Increased C-peptide level, Irregular menstruation, Decreased... |
OMIM:615238 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Childhood-onset truncal obesit... |
ORPHA:71529 |
Congenital Generalized Lipodystrophy |
|
Amenorrhea, Hypertrichosis, Low anterior hairline, Hepatomegaly, Precocious puberty in females, H... |
ORPHA:528 |
Morbid Obesity And Spermatogenic Failure |
|
Infertility, Type II diabetes mellitus, Increased LDL cholesterol concentration, Oligospermia, De... |
OMIM:615703 |
Multiple Symmetric Lipomatosis |
|
Insulin resistance, Multiple lipomas, Hepatomegaly, Abnormal adipose tissue morphology |
ORPHA:2398 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hepatomegaly, Flexion contracture, Elevated hepatic transaminase, Lipodystrophy, Hypertriglycerid... |
OMIM:615381 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Pancreatitis, Lipoatrophy, Hepatomegaly, Insulin resistance, Diabetes mellitus,... |
ORPHA:79084 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Generalized hirsutism, Lipoatrophy, Pancreatitis, Cellulitis, Dysmenorrhea, Hepatomegaly, Splenom... |
ORPHA:2348 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... |
ORPHA:71526 |
Lipase Deficiency, Combined |
|
Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus, Pancreatitis |
OMIM:246650 |
Lipodystrophy, Familial Partial, Type 2 |
|
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Hepatomegaly, Lipodystrophy, Polycystic ov... |
OMIM:151660 |
Lipodystrophy, Familial Partial, Type 6 |
|
Abdominal obesity, Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating... |
OMIM:615980 |
Mandibuloacral Dysplasia |
|
High palate, Increased adipose tissue around the neck, Glucose intolerance, Hyperinsulinemia, Lip... |
ORPHA:2457 |
Primary Lipodystrophy |
|
Hyperlipidemia, Lipoatrophy, Pancreatitis, Type II diabetes mellitus, Splenomegaly, Insulin resis... |
ORPHA:90970 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Reduced subcutaneous adipose tissue, Pancreatitis, Hepatomegaly, Lipodystrophy, Secondary amenorr... |
ORPHA:280365 |
Pparg-Related Familial Partial Lipodystrophy |
|
Generalized hirsutism, Lipoatrophy, Pancreatitis, Dysmenorrhea, Hepatomegaly, Splenomegaly, Cirrh... |
ORPHA:79083 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Generalized hirsutism... |
ORPHA:363400 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Hepatomegaly, Lipodystrophy, Clitoral hype... |
OMIM:608594 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Small for gestational age, Maturit... |
ORPHA:324575 |
Glycogen Storage Disease Vi |
|
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia, Elevated hepatic ... |
OMIM:232700 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Hepatomegaly, Lipodystrophy, Clitoral hype... |
OMIM:269700 |
Transient Neonatal Diabetes Mellitus |
|
Failure to thrive, Hypoinsulinemia, Macroglossia, Small for gestational age, Maturity-onset diabe... |
ORPHA:99886 |
Autoinflammatory-Pancytopenia Syndrome |
|
Failure to thrive, Cholestatic liver disease, Intestinal inflammation, Hepatosplenomegaly, Lipody... |
OMIM:619858 |
Spermatogenic Failure 65 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619712 |
Hemophagocytic Syndrome Associated With An Infection |
|
Increased circulating ferritin concentration, Ataxia, Neutropenia, Abnormal T cell subset distrib... |
ORPHA:158048 |
Acquired Partial Lipodystrophy |
|
Generalized hirsutism, Lipoatrophy, Lymphocytosis, Insulin resistance, Hepatic steatosis |
ORPHA:79087 |
Acquired Generalized Lipodystrophy |
|
Generalized hirsutism, Hyperinsulinemia, Hepatomegaly, Abnormal circulating lipid concentration, ... |
ORPHA:79086 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Ane... |
OMIM:205950 |
Growth Hormone Insensitivity Syndrome |
|
Failure to thrive, Type II diabetes mellitus, Hypoplasia of penis, Truncal obesity, Hypoglycemia,... |
ORPHA:181393 |
Spermatogenic Failure 56 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619515 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas... |
ORPHA:276575 |
H Syndrome |
|
Amenorrhea, Abnormal eyebrow morphology, Hypertrichosis, Histiocytosis, Alopecia, Micropenis, Hep... |
ORPHA:168569 |
Spermatogenic Failure, X-Linked, 3 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... |
OMIM:301059 |
Sickle Cell Anemia |
|
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
Spermatogenic Failure 54 |
|
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... |
OMIM:619379 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Hypoketotic hy... |
ORPHA:276556 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas... |
ORPHA:276580 |
Spermatogenic Failure 51 |
|
Microcephalic sperm head, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm mot... |
OMIM:619177 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Failure to thrive, Ileus, Hyperinsulinemia, Hepatomegaly, Flexion contracture, Splenomegaly, Elev... |
OMIM:613327 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Hyperlipidemia, Osteoporosis, Impaired glucose tolerance, Hypertriglyceridem... |
OMIM:610947 |
Neutral Lipid Storage Disease With Myopathy |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Elevated ... |
OMIM:610717 |
Spermatogenic Failure 40 |
|
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... |
OMIM:618664 |
Spermatogenic Failure 58 |
|
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... |
OMIM:619585 |
Spermatogenic Failure 39 |
|
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... |
OMIM:618643 |
Gaisböck Syndrome |
|
Increased hematocrit, Elevated plasma cell count, Hyperproteinemia, Increased mean corpuscular he... |
ORPHA:90041 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, High palate, Hyper... |
OMIM:248370 |
Growth Factors, Combined Defect Of |
|
Reduced subcutaneous adipose tissue, Lipodystrophy, Insulin-resistant diabetes mellitus, Flexion ... |
OMIM:233805 |
Partial Chromosome Y Deletion |
|
Oligospermia, Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Decreased ... |
ORPHA:1646 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Low anterior hairline, Hyperinsulinemic hypoglycemia, Primary amenorrhea, Delayed thelarche, Diab... |
OMIM:616033 |
Temple Syndrome |
|
High palate, Flexion contracture, Small for gestational age, Maturity-onset diabetes of the young... |
OMIM:616222 |
Spermatogenic Failure 72 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... |
OMIM:619867 |
Spermatogenic Failure 47 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella |
OMIM:619102 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Failure to thrive, Abnormal circulating acetylcarnitine concentration, Hyperinsulinemic hypoglyce... |
ORPHA:71212 |
Spermatogenic Failure 11 |
|
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility |
OMIM:615081 |
Spermatogenic Failure 46 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... |
OMIM:619095 |
Spermatogenic Failure 63 |
|
Reduced progressive sperm motility, Oligospermia, Decreased testicular size, Male infertility |
OMIM:619689 |
Male Infertility Due To Acephalic Spermatozoa |
|
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... |
ORPHA:529970 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
High palate, Glucose intolerance, Hyperlipidemia, Hyperinsulinemia, Sparse hair, Flexion contract... |
OMIM:608612 |
Spermatogenic Failure 41 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head |
OMIM:618670 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Reduced subcutaneous adipose tissue, Lipoatrophy, Hyperlipoproteinemia, Flexion contracture, Abno... |
ORPHA:1979 |
Donohue Syndrome |
|
Postprandial hyperglycemia, Precocious puberty, Hyperinsulinemia, Severe failure to thrive, Ovari... |
OMIM:246200 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia, Hepatomegaly, Failure to thrive in infancy, Splenomegaly |
OMIM:619175 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperinsulinemia, Hyperlipidemia, Increased serum leptin, Hypertriglyceridemia, Polyphagia, Insul... |
OMIM:617885 |
Spermatogenic Failure 20 |
|
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Spermatogenic Failure 43 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619094 |
Spermatogenic Failure 35 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618341 |
Spermatogenic Failure 33 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618152 |
Spermatogenic Failure 34 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618153 |
Spermatogenic Failure 18 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617576 |
Spermatogenic Failure 19 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617592 |
Ddost-Cdg |
|
Failure to thrive, Gastroesophageal reflux, Elevated hepatic transaminase, Lipodystrophy, Primary... |
ORPHA:300536 |
Pseudohypoparathyroidism, Type Ia |
|
Short toe, Subcutaneous ossification, Brachydactyly, Osteoporosis, Enamel hypoplasia, Hypocalcemi... |
OMIM:103580 |
Multiple Myeloma |
|
Splenomegaly, Osteopenia, Hyperproteinemia, Elevated circulating creatinine concentration, Weight... |
ORPHA:29073 |
Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... |
ORPHA:263458 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Decreased antimullerian hormone level, Bilateral cryptorchidism, Male infertility, Inguinal hernia |
OMIM:261550 |
Spermatogenic Failure 7 |
|
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility |
OMIM:612997 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Immotile sperm, Abnormal sperm morphology |
OMIM:608653 |
Galactokinase Deficiency |
|
Failure to thrive, Hyperinsulinemia, Hepatomegaly, Small for gestational age, Hypergonadotropic h... |
ORPHA:79237 |
Perlman Syndrome |
|
Abnormal pancreas morphology, Hepatomegaly, Hypoplasia of penis, Inguinal hernia, Hyperinsulinemi... |
ORPHA:2849 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Lipodyst... |
OMIM:616000 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Abnormal circulating insulin concentration, Increased hepatic glycogen content, Hypoketotic hypog... |
ORPHA:293964 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Keloids, Secondary a... |
ORPHA:3085 |
Cimdag Syndrome |
|
Cholelithiasis, Microvesicular hepatic steatosis, Hepatomegaly, Polymicrogyria, Lipodystrophy, Hy... |
OMIM:619273 |
Hypophosphatasia |
|
Craniosynostosis, Hypercalcemia, Bowing of the long bones, Abnormal metaphysis morphology, Anemia... |
ORPHA:436 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Insulin resistance, Decreased serum insulin-like growth factor 1, Truncal obesity, Delayed puberty |
ORPHA:140941 |
Insulin Autoimmune Syndrome |
|
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... |
ORPHA:411593 |
Methylcobalamin Deficiency Type Cble |
|
Increased mean corpuscular volume, Failure to thrive, Neutropenia, Hypomethioninemia, Syndactyly,... |
ORPHA:2169 |
Retinitis Pigmentosa |
|
Hyperinsulinemia, Type II diabetes mellitus, Hypoplasia of penis, Hypogonadism, Atypical scarring... |
ORPHA:791 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ... |
ORPHA:398063 |
Spermatogenic Failure 42 |
|
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... |
OMIM:618745 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... |
OMIM:610021 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypoplasia of the ovary, Hyperinsulinemia, Decreased serum testosterone concentration, Hypergonad... |
ORPHA:66628 |
Dehydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... |
ORPHA:3202 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Large for gestational age, Hypoglycemia, Pancreatic islet-cell hyp... |
OMIM:601820 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypo... |
OMIM:256450 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Pseudohypoparathyroidism, Type Ic |
|
Brachydactyly, Osteoporosis, Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemia, Cataract,... |
OMIM:612462 |
Deafness-Infertility Syndrome |
|
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... |
OMIM:611102 |
Werner Syndrome |
|
Pili torti, Sparse scalp hair, Type II diabetes mellitus, Lipoatrophy, Ovarian neoplasm, Abnormal... |
ORPHA:902 |
Poems Syndrome |
|
Hypertrichosis, Leukonychia, Abnormality of the endocrine system, Polycythemia, Increased circula... |
ORPHA:2905 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypoplasia of the ovary, Hyperinsulinemia, Decreased serum testosterone concentration, Hypergonad... |
ORPHA:179494 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoketotic h... |
ORPHA:79299 |
Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility |
OMIM:619696 |
Blue Diaper Syndrome |
|
Increased body weight, Hyperphosphatemia, Increased proinsulin:insulin ratio, Hypercalcemia, Recu... |
ORPHA:94086 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility |
OMIM:619108 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Reduced C-peptide level, Flexion contracture, Hyperglycemia |
OMIM:618856 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Ataxia, Pes cavus, Hypoalbuminemia, Hypercholesterolemia, Steppage gait |
OMIM:607250 |
Spermatogenic Failure 1 |
|
Cryptozoospermia, Oligospermia, Male infertility |
OMIM:258150 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Spermatogenic Failure 10 |
|
Infertility, Abnormal sperm morphology |
OMIM:614822 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Hirsutism, Nephrotic syndrome, Abnormal circulating lipid concentration, Loss of truncal subcutan... |
OMIM:608709 |
Leprechaunism |
|
Reduced subcutaneous adipose tissue, Hypertrichosis, Hyperinsulinemia, Hepatomegaly, Facial hyper... |
ORPHA:508 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia, Hepatic steatosis, Insulin-resistant diabetes mellitus, Primary gonadal ins... |
ORPHA:436182 |
Familial Multiple Lipomatosis |
|
Hyperlipidemia, Lipodystrophy, Increased adipose tissue, Insulin resistance, Abnormal tricuspid v... |
ORPHA:199276 |
Hemochromatosis, Type 4 |
|
Increased circulating ferritin concentration, Glucose intolerance, Impotence, Hepatomegaly, Cirrh... |
OMIM:606069 |
Fibular Hemimelia |
|
Craniosynostosis, Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Thrombo... |
ORPHA:93323 |
Pseudohypoparathyroidism Type 1B |
|
Hypocalcemia, Diaphyseal sclerosis, Increased bone mineral density, Enamel hypoplasia, Hypocalcem... |
ORPHA:94089 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Failure to thrive, Increased bone mineral density, Retinal degeneration, Hydroxyprolinemia, Osteo... |
OMIM:239000 |
Spermatogenic Failure 70 |
|
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:619828 |
Pressure-Induced Localized Lipoatrophy |
|
Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy |
ORPHA:90160 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
High palate, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Enlarge... |
OMIM:608836 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypocalcemia, Increased bone mineral density, Small for gestational age, Papilledema, Abnormality... |
OMIM:127000 |
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Loss of facial adipose tissue, Lipodystrophy, Progressive loss of facial adipose tissue, Loss of ... |
OMIM:613913 |
Hypophosphatasia, Infantile |
|
Bowing of the legs, Failure to thrive, Metaphyseal cupping, Short ribs, Craniosynostosis, Elevate... |
OMIM:241500 |
Familial Isolated Dilated Cardiomyopathy |
|
Abnormality of neutrophils, Elevated circulating creatine kinase concentration, Lipoatrophy |
ORPHA:154 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, High palate, Hyperinsulinemia, Precocious puberty, Small for gestatio... |
OMIM:262190 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Sparse scalp hair, Sparse eyebrow, Flexion contracture, Sparse eyelashes, Lipodystrophy, Testicul... |
ORPHA:75496 |
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Hypergonadotropic hypogonadism, Lipodystrophy |
OMIM:212112 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Failure to thrive, Ataxia, Hemophagocytosis, Spleno... |
OMIM:267700 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Lipoatrophy, Abnormal hair quantity, Cryptorchidism, Shagreen patch, Premature graying of hair, L... |
ORPHA:2617 |
Bardet-Biedl Syndrome 9 |
|
Polydipsia, Retinal degeneration, Rod-cone dystrophy, Postaxial polydactyly, Syndactyly, Brachyda... |
OMIM:615986 |
Aredyld Syndrome |
|
Type II diabetes mellitus, Lipoatrophy, Hepatomegaly, Splenomegaly, Sparse body hair, Aplasia/Hyp... |
ORPHA:1133 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Coxa valga, Hypercalcemia |
OMIM:191420 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Spl... |
OMIM:615234 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
Pseudohypoparathyroidism Type 1A |
|
Band keratopathy, Short 3rd metacarpal, Cataract, Calcinosis, Broad distal phalanx of the thumb, ... |
ORPHA:79443 |
Shwachman-Diamond Syndrome |
|
Steatorrhea, Osteopenia, Aplastic anemia, Macrocytic anemia, Proximal femoral epiphysiolysis, Pan... |
ORPHA:811 |
Type 2 Diabetes Mellitus |
|
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus |
OMIM:125853 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
Pseudohypoparathyroidism Type 1C |
|
Short fifth metatarsal, Hypocalcemia, Conjunctivitis, Increased bone mineral density, Ectopic oss... |
ORPHA:79444 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Ataxia, Pes cavus, Hypoalbuminemia, Hypercholesterolemia, Distal lower limb muscle weakness, Step... |
ORPHA:94124 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism, Hyperglycemia |
OMIM:307500 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypocalcemia, Hepatomegaly, Atrial septal defect, Hypoproteinemia, Small for gestational age, Hyp... |
ORPHA:26793 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Increased circulating ferritin concentration, Cholangiocarcinoma, Testicular atrophy, Hepatomegal... |
ORPHA:465508 |
Type 1 Diabetes Mellitus |
|
Polydipsia, Decreased level of 1,5 anhydroglucitol in serum, Polyphagia, Diabetes mellitus, Hyper... |
OMIM:222100 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Anemia, Bone cyst, Hypercalcemia |
ORPHA:2668 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus |
OMIM:602485 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Hepatic fibrosis... |
OMIM:614480 |
Short Syndrome |
|
Glucose intolerance, Lipoatrophy, Inguinal hernia, Small for gestational age, Lipodystrophy, Insu... |
OMIM:269880 |
Ectodermal Dysplasia, Trichoodontoonychial Type |
|
Lipoatrophy, Sparse hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Abnormal eyelash m... |
ORPHA:1818 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Adrenal insufficiency, Adrenocorticotropic hormone deficiency, Decreased response to growth hormo... |
OMIM:609734 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Failure to thrive, Abnormal intestine morphology, Hyperinsulinemia |
OMIM:606528 |
Insulin-Resistance Syndrome Type B |
|
Hyperinsulinemia, Abnormal circulating fatty-acid concentration, Glycosuria, Abnormality of circu... |
ORPHA:2298 |
Pseudohypoparathyroidism, Type Ib |
|
Hypocalcemia, Brachydactyly, Hyperphosphatemia, Obesity, Short metacarpal |
OMIM:603233 |
Immunodeficiency 91 And Hyperinflammation |
|
Failure to thrive, Elevated circulating C-reactive protein concentration, Neutrophilia, Hemophago... |
OMIM:619644 |
Diffuse Neonatal Hemangiomatosis |
|
Anemia, Thrombocytopenia, Hypercalcemia |
ORPHA:2123 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Alopecia, Increased body weight, Dorsocervical fat pad, Abnormal subcutaneous fat tissue distribu... |
ORPHA:189439 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Severe failure to thrive, Hyperglycemia |
OMIM:601410 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Clinodactyly of the 5th finger, Lymphopenia, Hypoproteinemia, Chorioretinal coloboma |
ORPHA:1116 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... |
ORPHA:79506 |
Drug-Induced Localized Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy |
ORPHA:90157 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemia, Increased bone mineral density, Hypocalcemic tetany, Hyperphosphatemia, Cataract, C... |
ORPHA:36913 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Hi... |
ORPHA:189427 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Anisopoikilocytosis, Acantho... |
OMIM:616689 |
Lipodystrophy-Intellectual Disability-Deafness Syndrome |
|
Slender build, Failure to thrive, Generalized lipodystrophy, Small for gestational age |
ORPHA:50811 |
Rhabdoid Tumor |
|
Weight loss, Anemia, Thrombocytopenia, Hypercalcemia |
ORPHA:69077 |
Rapidly Involuting Congenital Hemangioma |
|
Hepatic hemangioma, Thrombocytopenia, Lipoatrophy |
ORPHA:141184 |
Spermatogenic Failure 24 |
|
Coiled sperm flagella, Microcephalic sperm head, Reduced sperm motility, Short sperm flagella, Ta... |
OMIM:617959 |
Congenital Short Bowel Syndrome |
|
Displacement of the urethral meatus, Lipoatrophy, Sparse hair |
ORPHA:2301 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Failure to thrive, Hepatomegaly, Lymphopenia, Flexion contracture, Splenomegaly, Thrombocytopenia... |
OMIM:617591 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemia, Small hand, Micrognathia, Patchy osteosclerosis, Hyperphosphatemia, Short foot, Sho... |
OMIM:241410 |
Mody |
|
Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Hyperinsulinemic hypogly... |
ORPHA:552 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609968 |
Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
Cystinosis |
|
Failure to thrive, Polydipsia, Hypophosphatemia, Hypokalemia, Corneal opacity, Retinopathy, Gait ... |
ORPHA:213 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Decr... |
OMIM:607616 |
Panniculitis-Induced Localized Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy |
ORPHA:90159 |
Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Areflexia of lower limbs, Flexion contracture, Elevated circulating creatine kinase... |
OMIM:615883 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Hepatic failure, Steatorrhea, Elevated circulating aspartate aminotransferase conce... |
OMIM:278000 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Episodic hemolytic anemia, Increased blood urea nitrogen, Macular dystrophy, Abnormal retinal mor... |
ORPHA:251004 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia |
OMIM:600496 |
Diabetes Mellitus, Ketosis-Prone |
|
Insulin resistance, Beta-cell dysfunction, Diabetes mellitus |
OMIM:612227 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... |
OMIM:202700 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Hemolytic anemia, Pancytop... |
OMIM:614470 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Increased se... |
ORPHA:98870 |
Fibrous Dysplasia Of Bone |
|
Abnormality of femur morphology, Abnormality of the humerus, Thin bony cortex, Abnormal bone stru... |
ORPHA:249 |
Ane Syndrome |
|
Multiple joint contractures, Lipoatrophy, Decreased serum testosterone concentration, Reduced cir... |
ORPHA:157954 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Failure to thrive, Hepatomegaly, Hepatic failure, Hypoglycemia, Primary adrenal insufficiency, Hy... |
OMIM:617872 |
Pseudohypoparathyroidism Type 2 |
|
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:94090 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Central hypothyroidism, Secondary amenorrhea, Inappropriately normal thyroid-stimulating hormone ... |
OMIM:301033 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... |
OMIM:607778 |
Isochromosomy Yp |
|
Ambiguous genitalia, Male infertility, Decreased testicular size, Primary gonadal insufficiency, ... |
ORPHA:98797 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Type I diabetes mellitus... |
OMIM:620044 |
Refractory Anemia With Excess Blasts |
|
Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Retinal hemorrha... |
ORPHA:86839 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Dysmenorrhea, Splenomegaly, Cirrhosis, Oligomenorrhea, Irregular menstruation, Hepa... |
ORPHA:370 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Failure to thrive, Splenomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoal... |
OMIM:619868 |
Fanconi-Bickel Syndrome |
|
Postprandial hyperglycemia, Failure to thrive, Hypophosphatemia, Hepatomegaly, Hepatic failure, I... |
ORPHA:2088 |
Secondary Short Bowel Syndrome |
|
Failure to thrive, Malabsorption, Enterocolitis, Intestinal atresia, Steatorrhea, Small intestina... |
ORPHA:95427 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Typ... |
OMIM:616860 |
Sanjad-Sakati Syndrome |
|
Corneal opacity, Hypocalcemia, Small hand, Micrognathia, Patchy osteosclerosis, Astigmatism, Hype... |
ORPHA:2323 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:618883 |
Spermatogenic Failure 8 |
|
Azoospermia, Oligospermia, Cryptozoospermia |
OMIM:613957 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609975 |
Stiff Skin Syndrome |
|
Lipodystrophy, Elbow flexion contracture, Knee flexion contracture, Camptodactyly |
OMIM:184900 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... |
OMIM:619041 |
Late-Onset Isolated Acth Deficiency |
|
Failure to thrive, Decreased circulating cortisol level, Eosinophilia, Normocytic anemia, Macrocy... |
ORPHA:199299 |
Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu... |
OMIM:616516 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Cortical thickening of long bone diaphyses, Stenosis of the medullary cavity of the long bones, P... |
ORPHA:93325 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:154275 |
Insulinoma |
|
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... |
ORPHA:97279 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hypertrichosis, Flexion contracture of finger, Hepatomegaly, Elevated circulating C-reactive prot... |
OMIM:256040 |
Spermatogenic Failure 21 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Stiff Skin Syndrome |
|
Type II diabetes mellitus, Lipoatrophy, Abnormal circulating lipid concentration |
ORPHA:2833 |
Omenn Syndrome |
|
Failure to thrive, Hypoproteinemia, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe ... |
OMIM:603554 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Splenomegaly, Hypoglycemia, Hypertriglyceridemia, Elevated hepatic transaminase, Hy... |
OMIM:306000 |
Isochromosomy Yq |
|
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Primary gonadal ins... |
ORPHA:98798 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Testicular atrophy, Decreased serum testosterone concentration, Sparse axillary hair, Delayed men... |
ORPHA:52901 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Adrenal calcification, Hypertriglyceridem... |
ORPHA:75234 |
Rabson-Mendenhall Syndrome |
|
Reduced subcutaneous adipose tissue, High palate, Hypertrichosis, Polydipsia, Long penis, Ventric... |
ORPHA:769 |
Spermatogenic Failure 25 |
|
Azoospermia, Cryptozoospermia, Decreased testicular size |
OMIM:617960 |
Membranoproliferative Glomerulonephritis, X-Linked |
|
Lipodystrophy |
OMIM:305800 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:154276 |
Aromatase Deficiency |
|
Generalized hirsutism, Female infertility, Ambiguous genitalia, female, Hyperlipidemia, Type II d... |
ORPHA:91 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... |
ORPHA:276608 |
Alg3-Cdg |
|
High palate, Decreased liver function, Abnormality of the endocrine system, Macroglossia, Abnorma... |
ORPHA:79321 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased circulating ferritin concentration, Failure to thrive, Ataxia, Hemophagocytosis, Spleno... |
OMIM:603553 |
Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Multiple lipomas, Abnormality of the lymph... |
ORPHA:1414 |
Spermatogenic Failure 2 |
|
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... |
OMIM:108420 |
Genetic Recurrent Myoglobinuria |
|
Hypocalcemia, Difficulty walking, Hyperphosphatemia, Fatigable weakness of swallowing muscles, Hi... |
ORPHA:99845 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hip contracture, Clinodactyly of the 5th finger, Hypophosphatemia, Metaphyseal cupping, Short rib... |
OMIM:156400 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Increased mean corpuscular volume, Megaloblastic anemia, Hypomethioninemia, Hyperhomocystinemia, ... |
OMIM:277410 |
Vitamin D-Dependent Rickets, Type 3 |
|
Bowing of the legs, Hypophosphatemia, Metaphyseal cupping, Hypocalcemia, Osteopenia, Flared metap... |
OMIM:619073 |
Linear Verrucous Nevus Syndrome |
|
Abnormal cornea morphology, Hypophosphatemia, Genu recurvatum, Aplasia/Hypoplasia of the fovea, R... |
ORPHA:2611 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Hypoalbuminemia, Hypoproteinemia, Neutropenia |
OMIM:600351 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Failure to thrive, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Asym... |
OMIM:606762 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Dislocated radial head, Long hallux, Cone-shaped epiphyses of the phalanges of the hand, Hypoplas... |
OMIM:101800 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypocalcemia, Hyperphosphatemia, Cataract, Hypocalcemic seizures |
OMIM:146200 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Cholestasis, Hepatocellular adenoma, Polycystic ovaries, Portal fibrosis, Dysmenorr... |
ORPHA:264580 |
Hyperproinsulinemia |
|
Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
Spermatogenic Failure 5 |
|
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa |
OMIM:243060 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia, Hepatomegaly |
OMIM:615924 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Metaphyseal irregularity, Tibial bowing, Hypophosphatemia, Delayed epiphyseal ossification, Bowin... |
OMIM:600081 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Failure to thrive, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria, ... |
ORPHA:2089 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Failure to thrive, Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, A... |
ORPHA:369 |
Distal Myopathy, Tateyama Type |
|
Calf muscle pseudohypertrophy, Abnormal circulating creatine kinase concentration, Progressive pe... |
ORPHA:488650 |
Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Focal Segmental Glomerulosclerosis 1 |
|
Anemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Immunodeficiency 27A |
|
Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Hypoplasia of the femoral head, Th... |
OMIM:209950 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Failure to thrive, Hepatomegaly, Left ventricular hypertrophy, Increased urine succinate level, E... |
OMIM:619048 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Throm... |
OMIM:603552 |
Spermatogenic Failure 38 |
|
Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti... |
OMIM:618433 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Decreased mean corpuscular volume, Failure to thrive, Hypokalemia, Hepatosplenomegaly, Rickets, H... |
OMIM:611590 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypomagnesemia, Hypokalemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia |
OMIM:601198 |
Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Elevated circulating C-reactive protein concentration, B lymphocytopenia, Thrombocytopenia, Lipod... |
OMIM:618048 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperlipidemia, Alopecia, Generalized lipodystrophy, Calcinosis, Nail dystrophy, Delayed puberty,... |
ORPHA:90154 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi... |
OMIM:618398 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Increased circulating ferritin concentration, Colitis, Hepatomegaly, Hemophagocytosis, Splenomega... |
OMIM:300635 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Failure to thrive, Hepatomegaly, Hyperinsulinemic hypoglycemia, Steatorrhea, Hepatic failure, Cir... |
OMIM:602579 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Craniosynostosis, Osteopenia, Hypercalcemia |
OMIM:614732 |
Hyperlipoproteinemia, Type Iv |
|
Hypertriglyceridemia, Glucose intolerance, Increased VLDL cholesterol concentration, Hypopituitarism |
OMIM:144600 |
Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Glucose intolerance, Increased VLDL cholesterol concentration, Hypopituitarism |
OMIM:145750 |
Alstrom Syndrome |
|
Chronic active hepatitis, Hepatomegaly, Hyperinsulinemia, Decreased response to growth hormone st... |
OMIM:203800 |
Familial Male-Limited Precocious Puberty |
|
Precocious puberty, Oligospermia, Long penis, Male infertility, Abnormal hair morphology, Macroor... |
ORPHA:3000 |
Insulin-Like Growth Factor I, Resistance To |
|
Reduced subcutaneous adipose tissue, High palate, Decreased body weight, Truncal obesity, Lipodys... |
OMIM:270450 |
Pseudohypoparathyroidism, Type Ii |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:203330 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Increased LDL... |
ORPHA:98855 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatoge... |
ORPHA:399808 |
Insulinomatosis And Diabetes Mellitus |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... |
OMIM:147630 |
Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Osteopenia, Neutrope... |
OMIM:618849 |
Hemochromatosis, Type 1 |
|
Amenorrhea, Increased circulating ferritin concentration, Testicular atrophy, Impotence, Hepatome... |
OMIM:235200 |
Atherosclerosis Susceptibility |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:108725 |
Short Syndrome |
|
Inguinal hernia, Lipodystrophy, Diabetes mellitus, Insulin resistance, Weight loss, Abnormal dent... |
ORPHA:3163 |
Hyperparathyroidism, Neonatal Severe |
|
Metaphyseal irregularity, Failure to thrive, Hypophosphatemia, Polydipsia, Splenomegaly, Hypercal... |
OMIM:239200 |
C3 Glomerulopathy |
|
Lipodystrophy, Elevated circulating creatinine concentration |
ORPHA:329918 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Broad-based gait, Microcytic anemia, Cataract, Hypoalbuminemia, Failure to thrive in infancy |
OMIM:618805 |
Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia, Pedal edema, Lymphopenia |
OMIM:152800 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Failure to thrive, Ethylmalonic aciduria, Ketot... |
ORPHA:26792 |
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... |
OMIM:206000 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Corneal arcus, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, H... |
OMIM:616828 |
Neuroleptic Malignant Syndrome |
|
Hypomagnesemia, Hypocalcemia, Leukocytosis, Elevated circulating creatine kinase concentration, H... |
ORPHA:94093 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Coarse hair, Enlarged kidney, Thrombocytopenia, Long eyelashes, Proteinuria, Bone m... |
OMIM:617303 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Elevated circulating reverse T3 concentration, Elevated circulating rT3/T3 ratio, Hypercholestero... |
OMIM:619855 |
Glycogen Storage Disease Ib |
|
Nephrolithiasis, Hyperlipidemia, Pancreatitis, Hepatomegaly, Neutropenia, Splenomegaly, Decreased... |
OMIM:232220 |
Glycerol Kinase Deficiency |
|
Adrenal insufficiency, Small for gestational age, Increased urinary glycerol, Hypoglycemia, Hyper... |
OMIM:307030 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... |
OMIM:616829 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Obesity Due To Sim1 Deficiency |
|
Obesity, Glucose intolerance, Hyperinsulinemia, Polyphagia |
ORPHA:369873 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypophosphatemia, Hypocalcemia, Bone cyst, Abnormal adipose tissue morphology, Abnormal hip bone ... |
ORPHA:93160 |
Temple Syndrome |
|
Precocious puberty, Type II diabetes mellitus, Decreased response to growth hormone stimulation t... |
ORPHA:254516 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Obesity, Polyphagia, Hyperinsulinemia |
ORPHA:329249 |
Glycogen Storage Disease Ia |
|
Nephrolithiasis, Hyperlipidemia, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate... |
OMIM:232200 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
Lipodystrophy, Familial Partial, Type 7 |
|
Reduced subcutaneous adipose tissue, Failure to thrive, Glucose intolerance, Small for gestationa... |
OMIM:606721 |
Spermatogenic Failure 26 |
|
Infertility, Acephalic spermatozoa |
OMIM:617961 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Decreased liver function, Hepatomegaly, Hyperammonemia, Cachexia, Elevated circulating creatine k... |
ORPHA:42 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:145600 |
Schaaf-Yang Syndrome |
|
Thick eyebrow, Gastroesophageal reflux, Flexion contracture, Micropenis, Camptodactyly, Polyphagi... |
OMIM:615547 |
African Iron Overload |
|
Increased circulating ferritin concentration, Abnormal pancreas morphology, Hepatomegaly, Microno... |
ORPHA:139507 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Metaphyseal irregularity, Tibial bowing, Hypophosphatemia, Subperiosteal bone resorption, Delayed... |
OMIM:264700 |
Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Increased LDL... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Increased LDL... |
ORPHA:98853 |
Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Short distal phalanx of finger, Hypocalcemia, Optic atrophy, Abnor... |
ORPHA:53 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Dysmenorrhea, Splenomegaly, Ketotic hypoglycemia, Cirrhosis, Irregular menstruation... |
ORPHA:79240 |
Oculocerebrodental Syndrome |
|
Metaphyseal dysplasia, Hypocalcemia, Short 5th finger, Hypoplasia of the capital femoral epiphysi... |
ORPHA:557003 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Small hand, Micrognathia, Maturity-onset diabetes of the young, Short foot, Clinodactyly, Hyperch... |
ORPHA:254531 |
Leptin Deficiency Or Dysfunction |
|
Micropenis, Primary amenorrhea, Decreased serum leptin, Abnormal eating behavior, Polyphagia, Dec... |
OMIM:614962 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Pancreatitis, Hepatomegaly, Hepatocellular adenoma, Enlarged kidney, Proteinuria, Hyperuricemia, ... |
ORPHA:79259 |
Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612563 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
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Osteopenia, Metacarpal periosteal thickening, Achilles tendon calcification, Hyperphosphatemia, H... |
OMIM:617994 |
Spermatogenic Failure 50 |
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Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size |
OMIM:619145 |
Autoinflammation With Infantile Enterocolitis |
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Increased circulating ferritin concentration, Failure to thrive, Elevated circulating C-reactive ... |
OMIM:616050 |
Hypervitaminosis A, Susceptibility To |
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Papilledema, Hypercalcemia |
OMIM:240150 |
Slc35A2-Cdg |
|
Inability to walk, Talipes equinovarus, Increased circulating thyroglobulin level, Craniosynostos... |
ORPHA:356961 |
Carnitine Deficiency, Systemic Primary |
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Failure to thrive, Hepatomegaly, Hyperammonemia, Endocardial fibroelastosis, Hypoglycemia, Elevat... |
OMIM:212140 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
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Hypochromia, Decreased mean corpuscular volume, Anemia |
OMIM:206100 |
Glycogen Storage Disease 0, Liver |
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Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Holoprosencephaly, Recurrent Infections, And Monocytosis |
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Failure to thrive, Short toe, Monocytosis, Brachydactyly, Tapered finger, Short finger |
OMIM:610680 |
Cortisone Reductase Deficiency 2 |
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Insulin resistance, Premature pubarche |
OMIM:614662 |
Alg6-Cdg |
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Failure to thrive, Ataxia, Retinal degeneration, Shortening of all distal phalanges of the finger... |
ORPHA:79320 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
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Decreased cervical spine flexion due to contractures of posterior cervical muscles, Increased LDL... |
ORPHA:98863 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
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Ataxia, Loss of ambulation, Limb ataxia, Pes cavus, Elevated circulating creatine kinase concentr... |
OMIM:208920 |
Atypical Werner Syndrome |
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Hyperinsulinemia, Ovarian neoplasm, Alopecia, Glycosuria, Secondary amenorrhea, Abnormality of ci... |
ORPHA:79474 |
Calciphylaxis |
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Ectopic ossification, Hyperphosphatemia, Cellulitis |
ORPHA:280062 |
Glycogen Storage Disease Ixc |
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Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypoglycemia, Elevated... |
OMIM:613027 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
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Failure to thrive, Microvesicular hepatic steatosis, Hypoglycemia, Increased hepatocellular lipid... |
OMIM:220111 |
Becker Nevus Syndrome |
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Hypoplastic labia minora, Abnormality of the scrotum, Lipoatrophy, Supernumerary nipple |
ORPHA:64755 |
Hyperinsulinism Due To Hnf4A Deficiency |
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Hypophosphatemic rickets, Hyperinsulinemia, Hepatomegaly, Abnormal circulating fatty-acid concent... |
ORPHA:263455 |
Greig Cephalopolysyndactyly Syndrome |
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Joint contracture of the hand, Inguinal hernia, Camptodactyly of toe, Hypospadias, Umbilical hern... |
OMIM:175700 |
Congenital Disorder Of Glycosylation, Type Im |
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Failure to thrive, Sparse eyebrow, Sparse eyelashes, Alopecia, Hypoketotic hypoglycemia, Dilated ... |
OMIM:610768 |
Hypotonia-Cystinuria Syndrome |
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Nephrolithiasis, Failure to thrive, Hypocalcemia, Decreased response to growth hormone stimulatio... |
OMIM:606407 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
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Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... |
OMIM:118651 |
Pancreatic And Cerebellar Agenesis |
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Reduced subcutaneous adipose tissue, Failure to thrive, Pancreatic hypoplasia, Hypoglycemia, Diab... |
OMIM:609069 |
Spermatogenic Failure 30 |
|
Azoospermia, Cryptozoospermia |
OMIM:618110 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
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Conjunctival whitish salt-like deposits, Angioid streaks of the fundus, Enamel hypoplasia, Hyperp... |
OMIM:211900 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, Hepatic failure |
OMIM:261650 |
Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:619831 |
Congenital Analbuminemia |
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Hyperlipidemia, Hypoproteinemia, Small for gestational age, Increased alpha-globulin, Lipodystrop... |
ORPHA:86816 |
Diarrhea 7, Protein-Losing Enteropathy Type |
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Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia |
OMIM:615863 |
Beta-Thalassemia Intermedia |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Leukocytosis, Splenomegaly, E... |
ORPHA:231222 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Renal tubular acidosis, Hyperammonemia, Hypoketotic hypoglycemia, Elevated circulat... |
OMIM:255120 |
Primary Intestinal Lymphangiectasia |
|
Hypomagnesemia, Hypocalcemia, Lymphopenia, Hypoproteinemia, Reduced proportion of CD4+ effector m... |
ORPHA:90362 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Slender build, Failure to thrive, Small for gestational age, Generalized lipodystrophy, Congenita... |
OMIM:608154 |
Blue Diaper Syndrome |
|
Hypercalcemia, Abnormal circulating tryptophan concentration |
OMIM:211000 |
Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Polyphagia, Hyperinsulinemia |
OMIM:618406 |
Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619937 |
Spermatogenic Failure 73 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619878 |
Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619672 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Lymphopenia, Cellulitis, Osteopenia, Eosinophilia, Monocytosis, Aplastic anemia, Acute lymphoblas... |
ORPHA:486 |
Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Micrognathia, ... |
OMIM:612561 |
Mpi-Cdg |
|
Decreased liver function, Failure to thrive, Hepatomegaly, Hyperinsulinemic hypoglycemia, Hypothy... |
ORPHA:79319 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:2239 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
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Metaphyseal irregularity, Hypophosphatemic rickets, Hypophosphatemia, Tibial bowing, Delayed epip... |
OMIM:241530 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Failure to thrive, Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Cholestasis, Hyp... |
OMIM:617156 |
Addison Disease |
|
Failure to thrive, Decreased circulating cortisol level, Salt craving, Normocytic anemia, Increas... |
ORPHA:85138 |
Ruijs-Aalfs Syndrome |
|
Lipodystrophy, Hepatocellular carcinoma, Elbow flexion contracture, Decreased body weight |
OMIM:616200 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... |
ORPHA:79644 |
Familial Isolated Hyperparathyroidism |
|
Hypophosphatemia, Osteopenia, Chondrocalcinosis, Generalized osteoporosis, Hypercalcemia, Infanti... |
ORPHA:99879 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Granulocytopenia, Hemophagocytosis, Hepatosplenomegaly, Hypertriglyceridemia, Anemia |
OMIM:608898 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Abdominal obesity, Increased circulating cortisol level, Macronodular adrenal hyperplasia, Increa... |
OMIM:615954 |
Estrogen Resistance |
|
Glucose intolerance, Hyperinsulinemia, Hypoplasia of the uterus, Primary amenorrhea, Impaired glu... |
OMIM:615363 |
Acute Adrenal Insufficiency |
|
Failure to thrive, Decreased circulating cortisol level, Salt craving, Normocytic anemia, Increas... |
ORPHA:95409 |
Fucosidosis |
|
Failure to thrive, Lipoatrophy, Hepatomegaly, Abnormality of the gallbladder, Hypothyroidism, Acr... |
ORPHA:349 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Colitis, Hemophagocytosis, Splenomegaly, Hepatosple... |
OMIM:613101 |
Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
Citrullinemia Type Ii |
|
Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Decreased HDL cholesterol concentration, D... |
ORPHA:247585 |
Hemochromatosis, Type 2A |
|
Amenorrhea, Infertility, Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly... |
OMIM:602390 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
High palate, Hypertriglyceridemia |
OMIM:618010 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Splenomegaly, Flexion contracture, Hypogonadism |
OMIM:608540 |
Vitamin D-Dependent Rickets, Type 2A |
|
Metaphyseal irregularity, Tibial bowing, Hypophosphatemia, Subperiosteal bone resorption, Delayed... |
OMIM:277440 |
Intrinsic Factor Deficiency |
|
Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia |
OMIM:261000 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei... |
ORPHA:158057 |
Chédiak-Higashi Syndrome |
|
Increased circulating ferritin concentration, Ataxia, Inability to walk, Hemophagocytosis, Increa... |
ORPHA:167 |
Acromesomelic Dysplasia 2A |
|
Flexion contracture, Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/H... |
OMIM:200700 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Failure to thrive, Hypocalcemia, Talipes equinovarus, Short ribs, Hypoplasia of the radius, Short... |
OMIM:607143 |
Wolcott-Rallison Syndrome |
|
Metaphyseal dysplasia, Decreased body weight, Hyperbilirubinemia, Lymphocytosis, Hyperammonemia, ... |
ORPHA:1667 |
Eosinophilic Gastroenteritis |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Steatorrhea, Eosinophilia, W... |
ORPHA:2070 |
Infantile Myofibromatosis |
|
Bone cyst, Chondrocalcinosis, Osteolysis, Hypercalcemia, Abnormal metaphysis morphology |
ORPHA:2591 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia, T lymphocytopenia |
DECIPHER:16 |
Huntington Disease |
|
Gait imbalance, Inability to walk, Bradykinesia, Decreased body mass index, Gait disturbance, Dif... |
ORPHA:399 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Hyperparathyroidism 4 |
|
Osteopenia, Hypercalcemia |
OMIM:617343 |
Familial Pseudohyperkalemia |
|
Increased mean corpuscular volume, Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Hy... |
ORPHA:90044 |
Dengue Fever |
|
Lethargy, Leukopenia, Thrombocytopenia, Hypoproteinemia |
ORPHA:99828 |
Hypercalcemia, Infantile, 2 |
|
Failure to thrive, Hypophosphatemia, Hypercalcemia |
OMIM:616963 |
Nephrotic Syndrome, Type 14 |
|
Adrenal insufficiency, Lymphopenia, Micropenis, Hypoglycemia, Hypertriglyceridemia, Hypothyroidis... |
OMIM:617575 |
Idiopathic Localized Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy |
ORPHA:90158 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Refractory anemia, Leukopenia, Monocytosis, Acute myeloid leukemia |
OMIM:616871 |
Leptospirosis |
|
Optic neuritis, Papilledema, Hyperproteinemia, Retinal hemorrhage, Chorioretinitis, Macular cotto... |
ORPHA:509 |
Hepatorenocardiac Degenerative Fibrosis |
|
Reduced renal corticomedullary differentiation, Cirrhosis, Hepatosplenomegaly, Hepatocellular car... |
OMIM:619902 |
Progressive Familial Intrahepatic Cholestasis |
|
Failure to thrive, Reduced bone mineral density, Hypocalcemia, Splenomegaly |
ORPHA:172 |
Leishmaniasis |
|
Splenomegaly, Leukopenia, Abnormal macrophage morphology, Weight loss, Hypoalbuminemia, Pancytope... |
ORPHA:507 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Adrenal insufficiency, Pancreatitis, Aminoaciduria, Lacticaciduria, Elevated circulating creatine... |
OMIM:619386 |
Hyperphosphatemia, Polyuria, And Seizures |
|
Hyperphosphatemia |
OMIM:239350 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Hemophagocytos... |
OMIM:308240 |
D-Glyceric Aciduria |
|
Nonketotic hyperglycinemia, Hyperglycinemia, Hyperglycinuria, Increased circulating free fatty ac... |
ORPHA:941 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Bowing of the legs, Hypocalcemia, Hypophosphatemia, Osteomalacia, Iron deficiency anemia, Tooth a... |
ORPHA:89937 |
Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia, Hypoproteinemia |
OMIM:207731 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Metaphyseal irregularity, Hypophosphatemic rickets, Hypophosphatemia, Abnormal circulating calciu... |
OMIM:307800 |
Graft Versus Host Disease |
|
Hyperbilirubinemia, Dupuytren contracture, Hemophagocytosis, Chronic hepatitis, Hepatosplenomegal... |
ORPHA:39812 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Steatorrhea, Hypergonadotropic hypogonadism, Proteinuria, Proximal tubulopathy, Per... |
OMIM:212065 |
Central Diabetes Insipidus |
|
Failure to thrive, Polydipsia, Hyponatremia, Weight loss, Lethargy |
ORPHA:178029 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoproteinemia, Iron deficiency anemia, Thrombocytosis, Hypoalbuminemia, Clubbing of fingers, Cl... |
OMIM:226300 |
Diabetes And Deafness, Maternally Inherited |
|
Type II diabetes mellitus, Hyperglycemia |
OMIM:520000 |
Syndactyly Type 4 |
|
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... |
ORPHA:93405 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Hirsutism, Joint contracture of the hand, Flexion contracture, Camptodactyly, Elbow flexion contr... |
OMIM:214150 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Small for gestational age, Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellit... |
OMIM:618858 |
Osteopetrosis, Autosomal Recessive 1 |
|
Coxa vara, Failure to thrive, Hypocalcemia, Increased bone mineral density, Splenomegaly, Cranios... |
OMIM:259700 |
East Syndrome |
|
Hypomagnesemia, Hypokalemia, Ataxia, Inability to walk, Polydipsia, Salt craving, Increased circu... |
ORPHA:199343 |
Porphyria Cutanea Tarda |
|
|