Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Maternal diabetes, Maturity-onset diabetes of the young |
OMIM:616329 |
Maturity-Onset Diabetes Of The Young, Type 4 |
|
Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:606392 |
Maturity-Onset Diabetes Of The Young, Type 6 |
|
Maturity-onset diabetes of the young |
OMIM:606394 |
Maturity-Onset Diabetes Of The Young, Type 2 |
|
Maturity-onset diabetes of the young |
OMIM:125851 |
Type 1 Diabetes Mellitus 2 |
|
Type I diabetes mellitus |
OMIM:125852 |
Maturity-Onset Diabetes Of The Young, Type 7 |
|
Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:610508 |
Type 1 Diabetes Mellitus 20 |
|
Type I diabetes mellitus |
OMIM:612520 |
Maturity-Onset Diabetes Of The Young, Type 9 |
|
Maturity-onset diabetes of the young |
OMIM:612225 |
Type 1 Diabetes Mellitus 15 |
|
Diabetes mellitus, Type I diabetes mellitus |
OMIM:601666 |
Type 1 Diabetes Mellitus 6 |
|
Diabetes mellitus |
OMIM:601941 |
Type 1 Diabetes Mellitus 10 |
|
Diabetes mellitus |
OMIM:601942 |
Diabetes Mellitus, Transient Neonatal, 2 |
|
Type II diabetes mellitus, Transient neonatal diabetes mellitus |
OMIM:610374 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Obesity, Overweight |
OMIM:613375 |
Tuftsin Deficiency |
|
Abnormality of the spleen |
OMIM:191150 |
Obesity |
|
Obesity, Increased waist to hip ratio |
OMIM:601665 |
Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue, Type II diabetes mel... |
ORPHA:71529 |
Multiple Symmetric Lipomatosis |
|
Multiple lipomas, Insulin resistance, Gait disturbance, Hepatomegaly, Abnormal adipose tissue mor... |
ORPHA:2398 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue, Decreased response t... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue, Decreased response t... |
ORPHA:71526 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Abdominal obesity |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Abdominal obesity |
OMIM:605572 |
Macrosomia Adiposa Congenita |
|
Obesity, Polyphagia, Large for gestational age |
OMIM:248100 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Obesity, Polyphagia, Tall stature |
OMIM:618406 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Ketotic hypoglycemia, Small for gestational age, Mate... |
ORPHA:324575 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Large for gestational age, Truncal obesity |
OMIM:240900 |
Griscelli Syndrome, Type 3 |
|
Silver-gray hair, White eyelashes, Large clumps of pigment irregularly distributed along hair shaft |
OMIM:609227 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Maternal diabetes, Large for gestational age, Agitati... |
ORPHA:276580 |
Obesity Due To Sim1 Deficiency |
|
Hypotension, Hyperinsulinemia, Cognitive impairment, Attention deficit hyperactivity disorder, Po... |
ORPHA:369873 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Splenomegaly, Hepatomegaly |
ORPHA:294 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Large for gestational age, Agitation, Diffuse pancrea... |
ORPHA:276575 |
Prader-Willi syndrome (Type 1) |
|
Truncal obesity |
DECIPHER:14 |
Prader-Willi Syndrome (Type 2) |
|
Truncal obesity |
DECIPHER:53 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypoketotic hypoglycemia, Large for gestational age, Agitation, Diffuse pancreatic islet hyperpla... |
ORPHA:276556 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperinsulinemia, Elevated hepatic transaminase, Polyphagia, Hyperglycemia, Obesity |
ORPHA:329249 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Obesity, Hyperphagia, And Developmental Delay |
|
Obesity, Polyphagia |
OMIM:613886 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Diabetes mellitus, Hepatomegaly, Lipoatr... |
ORPHA:79084 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Delayed puberty, Insulin resistance, Decreased serum insulin-like growth factor 1, Truncal obesity |
ORPHA:140941 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Increased circulating ACTH level, Congenital adrenal hyperplasia |
OMIM:613571 |
Leptin Deficiency Or Dysfunction |
|
Decreased serum leptin, Obesity, Polyphagia, Hypogonadism |
OMIM:614962 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... |
ORPHA:171706 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic fibrosis, Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue, Insulin-resistan... |
ORPHA:280356 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair, Polyphagia, Hypogo... |
ORPHA:177910 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperinsulinemia, Increased serum leptin, Obesity, Polyphagia, Hyperlipidemia, Hypertriglyceridemia |
OMIM:617885 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... |
OMIM:256450 |
Bardet-Biedl Syndrome 22 |
|
Obesity, Polyphagia, Large for gestational age |
OMIM:617119 |
Griscelli Syndrome, Type 1 |
|
Hypopigmentation of the skin, White eyelashes, Accumulation of melanosomes in melanocytes, White ... |
OMIM:214450 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancrea... |
OMIM:601820 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Bardet-Biedl Syndrome 11 |
|
Obesity |
OMIM:615988 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Gonadotropin deficiency, Decreased response to growth hormone stimulation test, Adrenal insuffici... |
OMIM:609734 |
Hemoglobin H Disease |
|
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly |
OMIM:613978 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:613370 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
Type 2 Diabetes Mellitus |
|
Type II diabetes mellitus, Insulin resistance |
OMIM:125853 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Insulin resistance, Hepatosplenomegaly, Hepatic steatosis, L... |
OMIM:612526 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly |
OMIM:206400 |
Insulinoma Tumor Suppressor Gene Locus |
|
Insulinoma |
OMIM:606960 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Agitation, Reactive hy... |
ORPHA:276608 |
Neutrophilia, Hereditary |
|
Neutrophilia, Splenomegaly |
OMIM:162830 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
Reticuloendotheliosis, X-Linked |
|
Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly |
OMIM:312500 |
Lipodystrophy, Familial Partial, Type 3 |
|
Cirrhosis, Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue, Reduced subcutaneous ad... |
OMIM:604367 |
Insulin Autoimmune Syndrome |
|
Weight loss, Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive... |
ORPHA:411593 |
Leptin Receptor Deficiency |
|
Decreased response to growth hormone stimulation test, Diabetes mellitus, Delayed puberty, Polyph... |
OMIM:614963 |
Insulinoma |
|
Hyperinsulinemia, Nonketotic hypoglycemia, Neuroendocrine neoplasm, Hyperinsulinemic hypoglycemia... |
ORPHA:97279 |
Hyperostosis Frontalis Interna |
|
Diabetes mellitus, Increased circulating prolactin concentration, Obesity, Hypertrichosis |
OMIM:144800 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Pancreatic ... |
OMIM:610021 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Gait ataxia, Hyperactivity, Cirrhosis, Hyperinsulinemia, Reduced intraabdominal adipose tissue, R... |
ORPHA:363400 |
Summitt Syndrome |
|
Obesity |
OMIM:272350 |
Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
Akt2-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Hepatic steatosis, Lipodystrophy, Decreased serum leptin, Decreased adiponect... |
ORPHA:79085 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Hypoglycemic seizures, Fasting hyperinsulinemia, Hy... |
OMIM:609968 |
Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Weight loss, Increased circulating free T3, Onycholysis, Decreased thyroid-stimula... |
OMIM:275000 |
Syndromic X-Linked Intellectual Disability 7 |
|
Sparse body hair, Obesity, Hypogonadism, Cryptorchidism |
ORPHA:85274 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Reduced response to gonadotropi... |
OMIM:619755 |
Albinism, Oculocutaneous, Type Iii |
|
Albinism, Red hair, Partial albinism |
OMIM:203290 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Diabetes mellitus, Obesity, Hypercholesterolemia |
OMIM:608320 |
Lipodystrophy, Familial Partial, Type 4 |
|
Insulin resistance, Hepatic steatosis, Lipodystrophy, Insulin-resistant diabetes mellitus, Lipoat... |
OMIM:613877 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia |
OMIM:615593 |
Ceroid storage disease |
|
Abnormality of the spleen |
OMIM:214200 |
Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... |
ORPHA:66628 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:231242 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... |
ORPHA:179494 |
Lipe-Related Familial Partial Lipodystrophy |
|
Loss of gluteal subcutaneous adipose tissue, Insulin resistance, Increased adipose tissue around ... |
ORPHA:435660 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair, Pol... |
ORPHA:411515 |
Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone |
|
Decreased circulating luteinizing hormone level, Congenital adrenal hypoplasia, Cryptorchidism |
OMIM:202150 |
Hyperaldosteronism, Familial, Type I |
|
Hyperaldosteronism, Decreased circulating renin level, Adrenogenital syndrome, Adrenal hyperplasia |
OMIM:103900 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly |
OMIM:619813 |
Lipodystrophy, Familial Partial, Type 6 |
|
Insulin resistance, Hepatic steatosis, Lipodystrophy, Diabetes mellitus, Abdominal obesity |
OMIM:615980 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Delayed speech and language development, Aggressive behavior, Large for gestational age |
ORPHA:356996 |
Acquired Partial Lipodystrophy |
|
Hepatic steatosis, Lipoatrophy, Insulin resistance |
ORPHA:79087 |
Tietz Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormality of skin pigmentation, White e... |
ORPHA:42665 |
Morbid Obesity And Spermatogenic Failure |
|
Hepatic steatosis, Type II diabetes mellitus, Obesity, Insulin resistance |
OMIM:615703 |
Lipodystrophy, Familial Partial, Type 1 |
|
Increased facial adipose tissue, Loss of gluteal subcutaneous adipose tissue, Increased adipose t... |
OMIM:608600 |
Central Precocious Puberty |
|
Abnormality of secondary sexual hair, Isosexual precocious puberty, Premature thelarche, Cafe-au-... |
ORPHA:759 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Splenomegaly, Hepatomegaly |
OMIM:606445 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus, Polyphagia, Polydipsia |
OMIM:222100 |
Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Hypoketotic hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Recurrent hyp... |
ORPHA:79299 |
Cortisone Reductase Deficiency 2 |
|
Obesity, Insulin resistance, Premature pubarche |
OMIM:614662 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Progressive loss of facial adipose tissue, Hepatic steatosis, Diabetes mellitus, Loss of subcutan... |
OMIM:608709 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... |
OMIM:603902 |
Paragangliomas 6 |
|
Elevated circulating catecholamine level, Paraganglioma |
OMIM:618464 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Alopecia, Increased circulating cortisol level, Adrenal hyperplasia, Diabetes mellitus, Primary h... |
OMIM:615830 |
Temple Syndrome |
|
Precocious puberty, Decreased response to growth hormone stimulation test, Small for gestational ... |
ORPHA:254516 |
Uncombable Hair Syndrome |
|
Trichodysplasia, Woolly hair, White hair, Patchy alopecia, Coarse hair, Abnormal hair morphology |
ORPHA:1410 |
Growth Hormone Insensitivity Syndrome |
|
Diabetes insipidus, Hypogonadism, Type II diabetes mellitus, Insulin resistance, Failure to thriv... |
ORPHA:181393 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Cirrhosis, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Insulin-resistant diabetes me... |
OMIM:608594 |
Hypoglycemia, Leucine-Induced |
|
Ataxia, Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Glycosuria, Elevated hepatic transaminase, Large for ... |
ORPHA:263455 |
Lipoid Congenital Adrenal Hyperplasia |
|
Adrenogenital syndrome, Congenital adrenal hyperplasia |
OMIM:201710 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Delayed speech and language development, Obesity, Emotional lability, Absent speech |
OMIM:309585 |
Bardet-Biedl Syndrome 18 |
|
Obesity |
OMIM:615995 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Cidec-Related Familial Partial Lipodystrophy |
|
Loss of gluteal subcutaneous adipose tissue, Hepatic steatosis, Lipodystrophy, Decreased serum le... |
ORPHA:435651 |
Diabetes Mellitus, Ketosis-Prone |
|
Diabetes mellitus, Beta-cell dysfunction, Insulin resistance |
OMIM:612227 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Large for gestational age, Neonatal hypoglycem... |
ORPHA:293964 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Obesity, Polyphagia |
OMIM:616521 |
Bardet-Biedl Syndrome 10 |
|
Obesity, Hypogonadism |
OMIM:615987 |
Red Cell Phospholipid Defect With Hemolysis |
|
Intermittent jaundice, Splenomegaly, Reticulocytosis |
OMIM:179700 |
Lipodystrophy, Familial Partial, Type 5 |
|
Diabetic ketoacidosis, Hepatic steatosis, Lipodystrophy, Decreased serum leptin, Decreased adipon... |
OMIM:615238 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Polyphagia, Decreased body weight |
OMIM:620085 |
Narcolepsy Type 1 |
|
Obesity |
ORPHA:2073 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Failure to thrive, Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulin... |
OMIM:606762 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Autoimmune Polyendocrinopathy Type 1 |
|
Alopecia, Decreased circulating aldosterone level, Increased circulating cortisol level, Primary ... |
ORPHA:3453 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly |
OMIM:619175 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Iris hypopigmentation, Partial albinism |
ORPHA:79478 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... |
OMIM:615954 |
Xq27.3Q28 Duplication Syndrome |
|
Sparse body hair, Hypogonadism, Decreased testicular size, Failure to thrive, Cryptorchidism, Tru... |
ORPHA:261483 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Obesity |
OMIM:264120 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatic steatosis, Diabetes mellitus, Difficulty walking, Hepatome... |
OMIM:610717 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Cirrhosis, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Insulin-resistant diabetes me... |
OMIM:269700 |
Cortisone Reductase Deficiency 1 |
|
Precocious puberty, Alopecia, Obesity, Hirsutism |
OMIM:604931 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity |
OMIM:619058 |
Congenital Generalized Lipodystrophy |
|
Precocious puberty in females, Cirrhosis, Hyperinsulinemia, Adipose tissue loss, Insulin resistan... |
ORPHA:528 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Elevated hepatic transaminase, Insul... |
OMIM:615381 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Hepatomegaly, Thrombocytopen... |
OMIM:133180 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... |
OMIM:219080 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Hyperbilirubinemia, Shunt, Primary |
|
Jaundice, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, ... |
OMIM:237800 |
Carcinoma Of Esophagus |
|
Obesity, Weight loss, Dysphagia |
ORPHA:70482 |
Frontotemporal Dementia |
|
Frontotemporal dementia, Frontal lobe dementia, Dementia, Polyphagia, Disinhibition |
OMIM:600274 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
Bardet-Biedl Syndrome 9 |
|
Polyphagia, Truncal obesity, Hyperglycemia, Renal insufficiency, Obesity, Polydipsia |
OMIM:615986 |
Transient Neonatal Diabetes Mellitus |
|
Hypothyroidism, Transient neonatal diabetes mellitus, Small for gestational age, Diabetic ketoaci... |
ORPHA:99886 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Decreased circulating aldosterone level, Increased circulating renin level, Failure to thrive, In... |
OMIM:610600 |
Bardet-Biedl Syndrome 5 |
|
Obesity, Hypogonadism |
OMIM:615983 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Obesity |
ORPHA:2206 |
Waardenburg Syndrome, Type 2B |
|
White forelock, Heterochromia iridis, Premature graying of hair |
OMIM:600193 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic steatosis, Hepatic failure, Impaired gluconeogenesis, Hypoglycemia |
OMIM:261650 |
Lipodystrophy, Familial Partial, Type 2 |
|
Increased facial adipose tissue, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Type II d... |
OMIM:151660 |
Dilution, Pigmentary |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
OMIM:126070 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Sparse body hair, Hypogonadism, Small for gestational age, Decreased testicular size, Increased c... |
OMIM:300869 |
Medulloblastoma |
|
Medulloblastoma |
OMIM:155255 |
Autism, Susceptibility To, X-Linked 6 |
|
Obesity |
OMIM:300872 |
Insulinomatosis And Diabetes Mellitus |
|
Multiple pancreatic beta-cell adenomas, Impaired glucose tolerance, Type II diabetes mellitus, Hy... |
OMIM:147630 |
Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Polyphagia |
ORPHA:163690 |
Pancreatic Cancer, Susceptibility To, 5 |
|
Pancreatic adenocarcinoma, Melanoma |
OMIM:618680 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Enlarged kidney, Membranoproliferative glomerulonephritis, Hypertension, Delayed puberty, Polypha... |
ORPHA:251004 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Reactive hypoglycemia, Attention deficit hyperactivity disorder, Fasting hyperinsulinemia, Hyperi... |
ORPHA:35878 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Hyperinsulinemic hypoglycemia, Dorsocervical fat pad, Diabetes mellitus, Delayed puberty, Delayed... |
OMIM:616033 |
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Obesity |
ORPHA:436141 |
Mody |
|
Pancreatic hypoplasia, Transient neonatal diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis... |
ORPHA:552 |
Hernández-Aguirre Negrete Syndrome |
|
Delayed puberty, Obesity |
ORPHA:2139 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... |
ORPHA:90793 |
Huntington Disease |
|
Gait imbalance, Weight loss, Inability to walk, Choking episodes, Gait disturbance, Agitation, Po... |
ORPHA:399 |
Pick Disease Of Brain |
|
Disinhibition, Frontotemporal dementia, Polyphagia |
OMIM:172700 |
Schaaf-Yang Syndrome |
|
Flexion contracture, Hypogonadism, Camptodactyly, Impulsivity, Polyphagia, Micropenis, Obesity, F... |
OMIM:615547 |
Retinitis Pigmentosa |
|
Hyperinsulinemia, Hypogonadism, Type II diabetes mellitus, Hypoplasia of penis, Atypical scarring... |
ORPHA:791 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Sparse facial hair, Absent facial hair, Hypergonadotropic hypogonadism, Low posterior hairline, O... |
ORPHA:2183 |
Tyrosinemia Type 1 |
|
Hepatocellular carcinoma, Splenomegaly, Hepatomegaly |
ORPHA:882 |
Portal Hypertension, Noncirrhotic, 1 |
|
Portal hypertension, Splenomegaly, Hepatomegaly |
OMIM:617068 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
6Q16 Microdeletion Syndrome |
|
Thick eyebrow, Polyphagia, Obesity |
ORPHA:171829 |
Delayed Puberty, Self-Limited |
|
Decreased circulating follicle stimulating hormone concentration, Delayed puberty, Decreased seru... |
OMIM:619613 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hypogonadism, A... |
OMIM:262600 |
Late-Onset Familial Hypoaldosteronism |
|
Decreased circulating aldosterone level, Abnormal circulating corticosterone level, Increased cir... |
ORPHA:556037 |
Renal Glucosuria |
|
Enuresis nocturna, Glycosuria, Polyuria, Polyphagia, Polydipsia |
OMIM:233100 |
Waardenburg Syndrome, Type 2F |
|
Hypopigmentation of the skin, Cafe-au-lait spot, Premature graying of hair, White forelock, Heter... |
OMIM:619947 |
Perlman Syndrome |
|
Hyperinsulinemia, Inguinal hernia, Hepatomegaly, Tall stature, Abnormal pancreas morphology, Femo... |
ORPHA:2849 |
Felty Syndrome |
|
Neutropenia, Splenomegaly |
OMIM:134750 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Cellulitis, Pancreatitis, Insulin resistance, Hepatic steatosis, Lipodystrophy, Diabetes mellitus... |
ORPHA:2348 |
Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
Hidrotic Ectodermal Dysplasia |
|
Alopecia, Sparse eyebrow, Small nail, Sparse scalp hair, Brittle scalp hair, Slow-growing nails, ... |
ORPHA:189 |
X-Linked Acrogigantism |
|
Enlarged pituitary gland, Diabetes insipidus, Increased circulating prolactin concentration, Incr... |
ORPHA:300373 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatic steatosis, Failure to thrive, Lethargy, Ketotic hypoglycemia |
ORPHA:26792 |
Pparg-Related Familial Partial Lipodystrophy |
|
Cirrhosis, Pancreatitis, Insulin resistance, Maternal diabetes, Hepatic steatosis, Diabetes melli... |
ORPHA:79083 |
Early-Onset Familial Hypoaldosteronism |
|
Decreased circulating aldosterone level, Abnormal circulating corticosterone level, Increased cir... |
ORPHA:556030 |
Bdv Syndrome |
|
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin... |
OMIM:619326 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Abnormal testis morphology, Hypogonadism, Abnormal hair quantity, Low posterior hairline, Obesity |
ORPHA:2233 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatic failure, Elevated circulating thyroid-stimulating hormone concentration, Primary adrenal ... |
OMIM:617872 |
Rhabdoid Tumor Predisposition Syndrome 1 |
|
Medulloblastoma, Choroid plexus carcinoma |
OMIM:609322 |
Chromosome Xq26.3 Duplication Syndrome |
|
Increased circulating prolactin concentration, Pituitary adenoma, Hypopituitarism, Overgrowth, In... |
OMIM:300942 |
Albinism, Oculocutaneous, Type Ib |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:606952 |
Pediatric-Onset Graves Disease |
|
Hyperactivity, Sinus tachycardia, Increased circulating T4 concentration, Thyrotoxicosis with dif... |
ORPHA:525731 |
Microduplication Xp11.22P11.23 Syndrome |
|
Delayed speech and language development, Precocious puberty, Obesity |
ORPHA:217377 |
Hypotonia-Cystinuria Syndrome |
|
Cystine crystalluria, Decreased response to growth hormone stimulation test, Cystinuria, Neonatal... |
OMIM:606407 |
Adenocarcinoma Of The Esophagus |
|
Obesity |
ORPHA:99976 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperinsulinemia, Keloids, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Obesity |
ORPHA:3085 |
Glucocorticoid Deficiency 5 |
|
Hyperpigmentation of the skin, Decreased circulating cortisol level, Abnormal response to ACTH st... |
OMIM:617825 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hyperinsulinemia, Precocious puberty, Small for gestational age, Diabetic ketoacidosis, Hypoglyce... |
OMIM:262190 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Fetal ascites, Splenomegaly, Hepatomegaly |
OMIM:619462 |
Woolly Hair |
|
Sparse body hair, Sparse lateral eyebrow, Brittle hair, Fine hair, Woolly hair, Hypopigmentation ... |
ORPHA:170 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Alopecia, Hyperaldosteronism, Increased circulating cortisol level, Macronodular adrenal hyperpla... |
ORPHA:189427 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Alopecia, Increased circulating cortisol level, Type II diabetes mellitus, Decreased circulating ... |
ORPHA:189439 |
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Elevated circulating alanine aminotransferase concentration, Left ventricular hypertrophy, Elevat... |
OMIM:619048 |
Adrenocortical Carcinoma |
|
Increased serum estradiol, Hyperaldosteronism, Increased circulating cortisol level, Adrenocortic... |
ORPHA:1501 |
Pancreatic Cancer, Susceptibility To, 1 |
|
Pancreatic adenocarcinoma |
OMIM:606856 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Hepatomega... |
OMIM:614480 |
Pseudohypoparathyroidism, Type Ib |
|
Elevated circulating parathyroid hormone level, Obesity, Pseudohypoparathyroidism |
OMIM:603233 |
Bardet-Biedl Syndrome 16 |
|
Cognitive impairment, Hypogonadism, Renal dysplasia, Stage 5 chronic kidney disease, Renal agenes... |
OMIM:615993 |
Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Increased hepatic glycogen content, Hypoglycemia, Hepatomegaly, Fa... |
OMIM:232700 |
Donohue Syndrome |
|
Hepatic fibrosis, Hyperinsulinemia, Precocious puberty, Adipose tissue loss, Severe failure to th... |
OMIM:246200 |
Erythrocytosis, Familial, 8 |
|
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia |
OMIM:222800 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly, Microcytic anemia, Recurrent tonsillitis |
OMIM:618852 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Jaundice, Reticulocytosis, Cholelithiasis, Anemia of inadequate production, Splenomegaly |
OMIM:224100 |
Mehmo Syndrome |
|
Diabetes mellitus, Obesity, Agitation, Cryptorchidism |
ORPHA:85282 |
Intellectual Developmental Disorder, X-Linked 91 |
|
Obesity, Low posterior hairline |
OMIM:300577 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Hyperactivity, Fair hair, Diabetes mellitus, Blue irides, Congenital hypothyroidism, Cryptorchidi... |
OMIM:614613 |
Familial Hyperaldosteronism Type Ii |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating renin, Adrenal hyperp... |
ORPHA:404 |
Acquired Generalized Lipodystrophy |
|
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Acute pancreatitis, Generaliz... |
ORPHA:79086 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Sparse body hair, Hypogonadism, Decreased testicular size, Type II diabetes mellitus, Eunuchoid h... |
ORPHA:2234 |
Pancreatic Cancer, Susceptibility To, 2 |
|
Neoplasm of the pancreas |
OMIM:613347 |
Primary Lipodystrophy |
|
Splenomegaly, Cirrhosis, Type II diabetes mellitus, Insulin resistance, Hepatic steatosis, Lipody... |
ORPHA:90970 |
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies |
|
Melanocytic nevus, Truncal obesity |
OMIM:300471 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hepatic steatosis, Primary gonadal insufficiency, Insulin-resistant diabetes mellitus |
ORPHA:436182 |
Glioma Susceptibility 3 |
|
Medulloblastoma, Astrocytoma, Glioblastoma multiforme |
OMIM:613029 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Elevated circulating thyroid-stimulating hormone concentration, Small for gestational age, Type I... |
OMIM:274300 |
Hemochromatosis, Type 4 |
|
Cirrhosis, Impaired glucose tolerance, Hepatic steatosis, Diabetes mellitus, Hepatomegaly, Glucos... |
OMIM:606069 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Hepatic steatosis, Gait disturbance, Elevated hepatic transaminase |
OMIM:618400 |
Glucocorticoid Deficiency 1 |
|
Abnormal response to ACTH stimulation test, Increased circulating ACTH level, Decreased circulati... |
OMIM:202200 |
Ermine Phenotype |
|
Albinism, White eyelashes, White eyebrow, Spotty hyperpigmentation, White hair, Vitiligo |
OMIM:227010 |
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Childhood-onset truncal obesity, Truncal obesity |
OMIM:610156 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemi... |
ORPHA:444463 |
Immunodeficiency 42 |
|
Hypoplasia of the thymus, Splenomegaly, Hepatomegaly |
OMIM:616622 |
Obesity-Hypoventilation Syndrome |
|
Obesity |
OMIM:257500 |
Immunodeficiency 84 |
|
Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, El... |
OMIM:615395 |
Man1B1-Cdg |
|
Sparse eyebrow, Long eyebrows, Long eyelashes, Multiple cafe-au-lait spots, Polyphagia, Truncal o... |
ORPHA:397941 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Dexamethasone-... |
ORPHA:403 |
Cebalid Syndrome |
|
Congenital diaphragmatic hernia, Polyphagia, Polymicrogyria |
OMIM:618774 |
Hypothyroidism, Central, With Testicular Enlargement |
|
Hypothyroidism, Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Inapprop... |
OMIM:300888 |
Mehmo Syndrome |
|
Gait ataxia, Decreased response to growth hormone stimulation test, Inability to walk, Small for ... |
OMIM:300148 |
Mandibuloacral Dysplasia |
|
Hyperinsulinemia, Contractures of the large joints, Glucose intolerance, Insulin resistance, Incr... |
ORPHA:2457 |
Albinism, Oculocutaneous, Type Iv |
|
Albinism, Hypopigmentation of hair, Blue irides |
OMIM:606574 |
Asplenia, Isolated Congenital |
|
Asplenia, Howell-Jolly bodies, Thrombocytosis |
OMIM:271400 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... |
OMIM:616030 |
Mast Cell Sarcoma |
|
Mastocytosis, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly |
ORPHA:66661 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Hyperglycemia, Transient neonatal diabetes mellitus, Severe failure to thrive |
OMIM:601410 |
Cryohydrocytosis |
|
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:185020 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hyperinsulinemia, Flexion contracture, Elevated hepatic transaminase, Insulin resistance, Hepatic... |
OMIM:613327 |
Trimethylaminuria |
|
Anemia, Neutropenia, Splenomegaly |
OMIM:602079 |
Encephalopathy Due To Prosaposin Deficiency |
|
Splenomegaly, Hepatomegaly |
ORPHA:139406 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal hypertension, Portal vein thrombosis, Splenomegaly, Hepatomegaly |
OMIM:610293 |
Maturity-Onset Diabetes Of The Young, Type 14 |
|
Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:616511 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Central hypothyroidism, Precocious puberty, Iris hypopigmentation, Decreased circulating T4 conce... |
ORPHA:98754 |
Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly, Cirrhosis |
OMIM:269600 |
Insulin-Resistance Syndrome Type B |
|
Biliary cirrhosis, Decreased body weight, Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia... |
ORPHA:2298 |
Pleuropulmonary Blastoma |
|
Medulloblastoma, Pleuropulmonary blastoma, Rhabdomyosarcoma |
OMIM:601200 |
Splenoportal Vascular Anomalies |
|
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly |
OMIM:271500 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Increased facial adipose tissue, Minimal subcutaneous fat, Reduced subcutaneous adipose tissue, P... |
ORPHA:280365 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Splenomegaly, Abnormal leukocyte morphology, Hemolytic anemia |
ORPHA:228312 |
Hypotrichosis 8 |
|
Dry hair, Sparse eyebrow, Sparse scalp hair, Fair hair, Sparse axillary hair, Nail pits, Woolly h... |
OMIM:278150 |
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Obesity, Hypoplasia of penis, Hernia of the abdominal wall |
ORPHA:3055 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
Galactokinase Deficiency |
|
Hyperinsulinemia, Small for gestational age, Hepatosplenomegaly, Failure to thrive, Hypoglycemia,... |
ORPHA:79237 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Increased circulating cortisol level, Decreased circulating ACTH level, Agitation, Pigmented micr... |
OMIM:610475 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased serum testosterone level, Increased circulating cortisol level, Decreased circulating d... |
OMIM:610489 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Splenomegaly, Eosinophilia, Myeloproliferative disorder |
OMIM:607685 |
Müllerian Aplasia And Hyperandrogenism |
|
High anterior hairline, Increased serum testosterone level, Synophrys, Abnormality of the ovary, ... |
ORPHA:247768 |
Polycystic Ovary Syndrome 1 |
|
Obesity |
OMIM:184700 |
11P15.4 Microduplication Syndrome |
|
Synophrys, Obesity, Highly arched eyebrow |
ORPHA:300305 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Distal arthrogryposis, Cachexia, Elevated hepatic transaminase, Ataxia, Hepatic steatosis, Hypogl... |
ORPHA:42 |
Bardet-Biedl Syndrome 2 |
|
Diabetes mellitus, Obesity, Hypogonadism |
OMIM:615981 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Central hypothyroidism, Precocious puberty, Iris hypopigmentation, Decreased circulating T4 conce... |
ORPHA:98793 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Failure to thrive in infancy, Enuresis, Obesity, Attention deficit hyperactivity disorder |
OMIM:613670 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Elevated circulating alanine aminotransferase concentration, Adrenal insufficiency, Elevated circ... |
OMIM:619386 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Jaundice, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, S... |
OMIM:612690 |
Alpha-Thalassemia |
|
Anemia, Splenomegaly, Hemolytic anemia, Hypersplenism, Jaundice, Abnormal hemoglobin, Cholelithia... |
ORPHA:846 |
Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Sarcoma, Squamous cell carcinom... |
OMIM:606719 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Inguinal hernia, Obesity |
OMIM:300209 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Central hypothyroidism, Precocious puberty, Iris hypopigmentation, Decreased circulating T4 conce... |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Central hypothyroidism, Precocious puberty, Iris hypopigmentation, Decreased circulating T4 conce... |
ORPHA:177901 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Central hypothyroidism, Flexion contracture, Precocious puberty, Cognitive impairment, Hypogonadi... |
ORPHA:398069 |
Luscan-Lumish Syndrome |
|
High anterior hairline, Overgrowth, Hirsutism, Polyphagia, Obesity |
OMIM:616831 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Attention deficit hyperactivity disorder, Overweight |
OMIM:620065 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenogenital syndrome, Adrenal hyperplasia |
OMIM:201910 |
Biemond Syndrome Type 2 |
|
Hypogonadotropic hypogonadism, Delayed puberty, Obesity, Hypogonadism |
ORPHA:141333 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Multiple pancreatic beta-cell adenomas, Increased circulating cortisol level, Abnormal response t... |
ORPHA:79644 |
Immunodeficiency 104 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, Hepatomegaly |
OMIM:608971 |
Adiposis Dolorosa |
|
Obesity, Painful subcutaneous lipomas |
OMIM:103200 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity |
ORPHA:88643 |
Waardenburg Syndrome, Type 4B |
|
Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore... |
OMIM:613265 |
Ddost-Cdg |
|
Elevated hepatic transaminase, Hepatic steatosis, Lipodystrophy, Failure to thrive, Primary hypot... |
ORPHA:300536 |
Bardet-Biedl Syndrome 4 |
|
Obesity, Hypogonadism, Cryptorchidism |
OMIM:615982 |
Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Bardet-Biedl Syndrome 7 |
|
Obesity, Hypogonadism |
OMIM:615984 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance |
OMIM:307500 |
African Iron Overload |
|
Abnormal thyroid morphology, Hepatic fibrosis, Increased circulating cortisol level, Abnormality ... |
ORPHA:139507 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Very long chain fatty acid accumulation, Diffuse hepatic steatosis, Elevated hepatic transaminase... |
OMIM:264470 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Anemia, Enlarged kidney, Hepatomegaly, Extramedullary hematopoiesis, Thrombocytopenia... |
OMIM:615285 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Central hypothyroidism, Hypopigmentation of the skin, Precocious puberty, Hypogonadism, Hypothala... |
ORPHA:398079 |
Halothane Hepatitis |
|
Obesity |
OMIM:234350 |
Griscelli Syndrome, Type 2 |
|
Silver-gray hair, Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melan... |
OMIM:607624 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis, Hepatic failure, Elevated circulating alanine aminotransferase concentration, Impaired ... |
OMIM:261680 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hyperactivity, Hypogonadism, Small for gestational age, Insulin resistance, Failure to thrive, Hy... |
ORPHA:73272 |
Carnitine Deficiency, Systemic Primary |
|
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, Im... |
OMIM:212140 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Synophrys, Polyphagia, Highly arched eyebrow, Generalized hirsutism |
ORPHA:228402 |
Prader-Willi-Like Syndrome |
|
Central hypothyroidism, Precocious puberty, Iris hypopigmentation, Decreased circulating T4 conce... |
ORPHA:398073 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Decreased testicular size, Diabetes mellitus, Absence of pubertal development, Cryptorchidism, Hy... |
OMIM:610628 |
Mpi-Cdg |
|
Hypothyroidism, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Failure to thrive, Hepatomegaly,... |
ORPHA:79319 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Elevated circulating... |
ORPHA:90791 |
Immunodeficiency 69 |
|
Anemia, Pancytopenia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly |
OMIM:618963 |
Prader-Willi Syndrome |
|
Central hypothyroidism, Precocious puberty, Perisylvian polymicrogyria, Decreased response to gro... |
ORPHA:739 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... |
OMIM:614842 |
Nut Midline Carcinoma |
|
Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Pancreatic squamous cell carcinom... |
ORPHA:443167 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Obesity |
OMIM:600955 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly |
OMIM:617441 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly |
OMIM:616452 |
Laurence-Moon Syndrome |
|
Type II diabetes mellitus, Obesity, Ataxia, Congenital hepatic fibrosis |
ORPHA:2377 |
Kallmann Syndrome With Spastic Paraplegia |
|
Decreased circulating follicle stimulating hormone concentration, Hypothalamic gonadotropin-relea... |
OMIM:308750 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenogenital syndrome, Adrenal hyperplasia |
OMIM:202110 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperinsulinemia, Flexion contracture, Hyperglycemia, Decreased adipose tissue around neck, Gener... |
OMIM:608612 |
Morgagni-Stewart-Morel Syndrome |
|
Hypothyroidism, Abnormality of the endocrine system, Diabetes mellitus, Hirsutism, Abnormality of... |
ORPHA:77296 |
Temple Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Precocious puberty, Small for gestational age, Decrea... |
OMIM:616222 |
Familial Hyperaldosteronism Type Iii |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Abnormal circulating ... |
ORPHA:251274 |
Hyperaldosteronism, Familial, Type Iii |
|
Decreased circulating renin level, Hyperaldosteronism, Adrenal hyperplasia |
OMIM:613677 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Sparse body hair, Primary gonadal insufficiency, Abnormal circulating corticosterone level, Decre... |
ORPHA:90796 |
Paragangliomas 7 |
|
Pheochromocytoma, Paraganglioma |
OMIM:618475 |
Thrombocythemia 1 |
|
Splenomegaly, Thrombocytosis |
OMIM:187950 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Inability to walk, Ataxia, Obesity, Broad-based gait, Waddling gait |
OMIM:616756 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Precocious puberty, Congenital posterior occipital a... |
ORPHA:79414 |
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Synophrys, Horizontal eyebrow, Obesity, Congenital hypothyroidism |
ORPHA:352530 |
Waardenburg Syndrome, Type 2A |
|
Premature graying of hair, Albinism, Synophrys, White eyelashes, White eyebrow, Numerous pigmente... |
OMIM:193510 |
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... |
OMIM:614839 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly |
OMIM:269840 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hepatic steatosis, Failure to thrive, Elevated hepatic transaminase, Decreased liver function |
OMIM:617093 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Adrenal insufficiency, Hyperpigmentation of the skin, Hyperaldosteronism, Adrenocorticotropic hor... |
OMIM:613743 |
Bardet-Biedl Syndrome 19 |
|
Hepatic steatosis, Obesity, Hypogonadism |
OMIM:615996 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hypoketotic hypoglycemia, Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Lethargy, Ma... |
OMIM:600649 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Increased facial adipose tissue, Flexion contracture, Hyperinsulinemia, Impaired glucose toleranc... |
OMIM:248370 |
Short Syndrome |
|
Small for gestational age, Insulin resistance, Inguinal hernia, Lipodystrophy, Insulin-resistant ... |
OMIM:269880 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Alopecia, Precocious puberty, Hyperthyroidism, Abnormal testis morphology, Abnormal hair quantity... |
ORPHA:457059 |
Morm Syndrome |
|
Abnormality of the kidney, Hyperactivity, Micropenis, Truncal obesity |
ORPHA:75858 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Congenital adrenal hyperplasia, Increased serum testosterone level, Hydrocele testis, Miscarriage |
ORPHA:96181 |
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Obesity, Lipoma, Oral-pharyngeal dysphagia |
ORPHA:480907 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Macroorchidism, Increased circulating ACTH level, Decreased circulating cortisol level, Adrenal h... |
ORPHA:90790 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Alopecia, Decreased circulating follicle stimulating hormone concentratio... |
ORPHA:453533 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Jaundice, Elevated hepatic transaminase, Hepatic steatosis, Micronodular cirrhosis, Hepatomegaly,... |
OMIM:301045 |
Wagro Syndrome |
|
Nephroblastoma, Hypertension, Agitation, Polyphagia, Proteinuria, Obesity |
OMIM:612469 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Synophrys, Truncal obesity, Low posterior hairline, Thick eyebrow, Thick hair |
ORPHA:2429 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1 |
|
Delayed speech and language development, Absent speech, Class III obesity |
OMIM:616418 |
Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Hepatomegaly |
ORPHA:417 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Pulmonary arterial hypertension, Bulimia, Aortic regurgitation, Mitral regurgitation, Overweight,... |
OMIM:614651 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Urinary incontinence, Urinary bladder sphincter dysfunction, Urinary urgency, Dysphagia, Mental d... |
OMIM:604360 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Precocious puberty, Obesity, Hypercholesterolemia, Maturity-onset diabetes of the young |
ORPHA:254531 |
Bardet-Biedl Syndrome 8 |
|
Obesity, Hypogonadism |
OMIM:615985 |
Wilson-Turner Syndrome |
|
Hypogonadotropic hypogonadism, Thick eyebrow, Cryptorchidism, Truncal obesity |
ORPHA:3459 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Absence of secondary sex characteristics, Anterior hypopituitarism, Hypothalamic gonadotropin-rel... |
ORPHA:2235 |
Galactose Epimerase Deficiency |
|
Jaundice, Splenomegaly, Hepatomegaly |
ORPHA:79238 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hypoketotic hypoglycemia, Elevated circulating alanine aminotransferase concentration, Elevated h... |
OMIM:255120 |
Nephronophthisis 15 |
|
Obesity |
OMIM:614845 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatic fibrosis, Cirrhosis, Hepatocellular carcinoma, Elevated hepatic transaminase, Portal fibr... |
ORPHA:369 |
Chung-Jansen Syndrome |
|
Cafe-au-lait spot, Synophrys, Obesity, Impulsivity, Attention deficit hyperactivity disorder, Cry... |
OMIM:617991 |
Borjeson-Forssman-Lehmann Syndrome |
|
Delayed puberty, Obesity, Cryptorchidism |
OMIM:301900 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Inability to walk, Ataxia, Hepatic steatosis, Failure to thrive, Dysphagia, Decreased liver function |
ORPHA:70472 |
Estrogen Resistance Syndrome |
|
Hyperinsulinemia, Enlarged polycystic ovaries, Absence of secondary sex characteristics, Abnormal... |
ORPHA:785 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Knee flexion contracture, Flexion contracture, Joint contracture of the hand, Small for gestation... |
OMIM:214150 |
Craniopharyngioma |
|
Enlarged pituitary gland, Increased circulating prolactin concentration, Hypogonadism, Cerebral i... |
ORPHA:54595 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Hyperglycemia, Flexion contracture, Type I diabetes mellitus |
OMIM:618856 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Hepatic necrosis, Elevated hepatic transaminase, Hyperinsulinemic hypog... |
ORPHA:71212 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Thick eyebrow, Hyperpigmentation of the skin, Obesity, Attention deficit hyperactivity disorder |
ORPHA:444002 |
Glucocorticoid Deficiency 2 |
|
Hyperpigmentation of the skin, Increased circulating ACTH level, Decreased circulating cortisol l... |
OMIM:607398 |
Alstrom Syndrome |
|
Hypothyroidism, Hyperinsulinemia, Diabetes insipidus, Decreased response to growth hormone stimul... |
OMIM:203800 |
Elliptocytosis 1 |
|
Splenomegaly, Elliptocytosis, Jaundice, Hemolytic anemia |
OMIM:611804 |
Immunodeficiency 76 |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Splenomegaly |
OMIM:619164 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Testicular microlithiasis, Decreased circulating dihydrotestosterone concentration, Sparse axilla... |
OMIM:228300 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Obesity, Attention deficit hyperactivity disorder |
OMIM:618725 |
Wilson Disease |
|
Cirrhosis, Weight loss, Hepatitis, Jaundice, Elevated hepatic transaminase, Hepatic steatosis, Fa... |
ORPHA:905 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... |
ORPHA:251380 |
Pseudopseudohypoparathyroidism |
|
Elevated circulating parathyroid hormone level, Obesity, Abnormality of the endocrine system |
ORPHA:79445 |
Bardet-Biedl Syndrome 6 |
|
Diabetes mellitus, Obesity, Pigmentary retinopathy |
OMIM:605231 |
Low Phospholipid-Associated Cholelithiasis |
|
Biliary cirrhosis, Liver abscess, Sclerosing cholangitis, Neoplasm of the liver, Hepatocellular c... |
ORPHA:69663 |
Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... |
ORPHA:2133 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Increased body mass index, Impaired sensitivity to thyroid hormone, Congenital hypothyroidism, In... |
OMIM:614450 |
Hereditary Central Diabetes Insipidus |
|
Weight loss, Diabetes insipidus, Polydipsia |
ORPHA:30925 |
Secondary Short Bowel Syndrome |
|
Central hypothyroidism, Weight loss, Failure to thrive, Polyphagia, Cholestasis, Primary hypothyr... |
ORPHA:95427 |
Rabson-Mendenhall Syndrome |
|
Hypothyroidism, Precocious puberty, Increased serum testosterone level, Fasting hypoglycemia, Imp... |
ORPHA:769 |
Prader-Willi Syndrome |
|
Failure to thrive in infancy, Hyperinsulinemia, Precocious puberty, Decreased response to growth ... |
OMIM:176270 |
Gangliocytoma |
|
Adrenocorticotropic hormone excess, Dementia, Pituitary null cell adenoma, Abnormal prolactin lev... |
ORPHA:251937 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased circulating follicle stimulating hormone concentration, Decreased circulating ACTH leve... |
OMIM:613986 |
Gray Platelet Syndrome |
|
Thrombocytopenia, Splenomegaly |
ORPHA:721 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... |
OMIM:614897 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Hypo... |
OMIM:308700 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Hepatocellular carcinoma, Hepatic steatosis, Hypoglycemia, Hepatomegaly, Elevated circulating ala... |
OMIM:256810 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatic steatosis, Hypoglycemia, Hepatomegaly, Lethargy |
OMIM:201450 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Jaundice, Reticulocytosis, Splenomegaly, Spherocytosis |
OMIM:612653 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Splenomegaly, Hemolytic anemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Follicu... |
OMIM:614470 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Large for gestational age |
ORPHA:2432 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:86893 |
Chromosome 22Q13 Duplication Syndrome |
|
Impulsivity, Attention deficit hyperactivity disorder, Polyphagia |
OMIM:615538 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Frontotemporal dementia, Agitation, Polyphagia, Disinhibition, Memory impairment, Progressive lan... |
OMIM:607485 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Decreased testicular size, Decreased circulating follicle stimulating hormone concentration, Elev... |
OMIM:229070 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Hepatomeg... |
OMIM:615631 |
Oculocutaneous Albinism, Type Viii |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris transillumination defect |
OMIM:619165 |
Porphyria Cutanea Tarda |
|
Periportal fibrosis, Corneal scarring, Scarring, Hepatocellular carcinoma, Elevated hepatic trans... |
ORPHA:101330 |
Essential Fructosuria |
|
Abnormality of glycolipid metabolism, Hyperglycemia |
ORPHA:2056 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Cirrhosis, Anemia, Jaundice, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:616860 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Anterior pituitary hypoplasia, Abdominal obesity, Decreased response to growth hormone stimulatio... |
OMIM:618160 |
Paragangliomas 3 |
|
Glomus jugular tumor, Elevated circulating catecholamine level, Chemodectoma, Paraganglioma, Extr... |
OMIM:605373 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Hemolytic anemia, Jaundice, Reticulocytosis, Hepatomegaly, Splenomegaly |
OMIM:185000 |
Mu-Heavy Chain Disease |
|
Anemia, Abnormal B cell count, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:100024 |
Generalized Glucocorticoid Resistance Syndrome |
|
Precocious puberty, Decreased circulating aldosterone level, Increased circulating cortisol level... |
ORPHA:786 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Broad-based gait, Hepatic steatosis,... |
OMIM:618805 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Periventricular nodular heterotopia, Hypergonadotropic hypogonadism, Hyperglycemia, Obesity, Memo... |
OMIM:619737 |
Short Syndrome |
|
Weight loss, Insulin resistance, Lipodystrophy, Inguinal hernia, Diabetes mellitus, Abnormal dent... |
ORPHA:3163 |
Cystinosis |
|
Hypothyroidism, Aminoaciduria, Type I diabetes mellitus, Renal tubular dysfunction, Failure to th... |
ORPHA:213 |
Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Hyperaldosteronism, Adrenal hyperplasia, Abnormal circulating renin, Dexamethasone-suppressible p... |
ORPHA:369929 |
Bangstad Syndrome |
|
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Increased circulating cortisol l... |
ORPHA:1227 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatic failure, Hepatic fibrosis, Impaired glucose tolerance, Glucose intolerance, Cholestasis, ... |
OMIM:615630 |
48,Xxyy Syndrome |
|
Type II diabetes mellitus, Hypoplasia of penis, Inguinal hernia, Attention deficit hyperactivity ... |
ORPHA:10 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of the skin, Albinism, Freckles in sun-exposed areas, Hypopigmentation of hair, ... |
OMIM:203200 |
Paragangliomas 1 |
|
Glomus jugular tumor, Elevated circulating catecholamine level, Glomus tympanicum paraganglioma, ... |
OMIM:168000 |
Primary Unilateral Adrenal Hyperplasia |
|
Decreased circulating renin level, Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal... |
ORPHA:231580 |
Waardenburg Syndrome Type 2 |
|
Premature graying of hair, Hypopigmented skin patches, White forelock, Hypopigmentation of hair, ... |
ORPHA:895 |
Pseudohypoparathyroidism Type 1C |
|
Enamel hypoplasia, Decreased response to growth hormone stimulation test, Low urinary cyclic AMP ... |
ORPHA:79444 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Jaundice, Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Fibro-obliterative ... |
OMIM:619849 |
Subaortic Stenosis-Short Stature Syndrome |
|
Inguinal hernia, Obesity, Biliary tract abnormality, Type II diabetes mellitus |
ORPHA:3191 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia |
ORPHA:231401 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
T lymphocytopenia, Increased proportion of transitional B cells, Lymphadenopathy, Decreased propo... |
OMIM:615513 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Anemia, Jaundice, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Thrombocytopenia, Neutropenia,... |
OMIM:603552 |
Adult Acute Respiratory Distress Syndrome |
|
Diabetic ketoacidosis, Abnormal circulating interleukin concentration, Increased circulating inte... |
ORPHA:70578 |
Gitelman Syndrome |
|
Hypotension, Nocturia, Increased circulating renin level, Failure to thrive, Delayed puberty, Pol... |
OMIM:263800 |
Familial Multiple Lipomatosis |
|
Overgrowth, Lipodystrophy, Insulin resistance, Increased adipose tissue |
ORPHA:199276 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, Decreased proporti... |
OMIM:617514 |
Trisomy 18P |
|
Attention deficit hyperactivity disorder, Polyphagia, Highly arched eyebrow |
ORPHA:1715 |
Placental Insufficiency |
|
Small for gestational age, Insulin resistance, Hypoxemia |
ORPHA:439167 |
Central Diabetes Insipidus |
|
Diabetes insipidus, Weight loss, Nocturia, Failure to thrive, Polydipsia |
ORPHA:178029 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatic fibrosis, Hepatic failure, Cirrhosis, Hyperinsulinemic hypoglycemia, Failure to thrive, H... |
OMIM:602579 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Splenomegaly, Jaundice, Cholestasis, Hepatomegaly |
OMIM:620010 |
Perrault Syndrome 4 |
|
Decreased serum estradiol, Disproportionate tall stature, Increased circulating gonadotropin leve... |
OMIM:615300 |
Lysosomal Acid Lipase Deficiency |
|
Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Cirrhosis, Peripor... |
OMIM:278000 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney, Insulin resistance, Insulin-resistant diabetes mell... |
ORPHA:90301 |
Pseudopseudohypoparathyroidism |
|
Cognitive impairment, Enamel hypoplasia, Obesity, Pseudohypoparathyroidism |
OMIM:612463 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Wrist flexion contracture, Flexion contracture, Shuffling gait, Spastic gait, Choreoathetosis, At... |
OMIM:300055 |
Angelman Syndrome |
|
Precocious puberty in females, Hyperactivity, Hypopigmentation of the skin, Fair hair, Iris hypop... |
ORPHA:72 |
Ataxia-Telangiectasia |
|
Premature graying of hair, Abnormal testis morphology, Aplasia/Hypoplasia of the thymus, Type II ... |
ORPHA:100 |
Oculocutaneous Albinism Type 3 |
|
Hypopigmentation of the skin, Generalized hypopigmentation of hair, White eyelashes, Iris hypopig... |
ORPHA:79433 |
Nephronophthisis 19 |
|
Hepatic fibrosis, Malformation of the hepatic ductal plate, Bile duct proliferation, Cholestasis,... |
OMIM:616217 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Multiple joint contractures, Decreased serum estradiol, Small for gestational age, Neoplasm of th... |
ORPHA:2959 |
Familial Renal Glucosuria |
|
Glycosuria, Insulin resistance, Hyperglycemia, Abnormal oral glucose tolerance, Abnormal circulat... |
ORPHA:69076 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
Macrophage Activation Syndrome |
|
Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor secretion... |
ORPHA:158061 |
Galactosemia Iii |
|
Jaundice, Splenomegaly, Hepatomegaly |
OMIM:230350 |
Pseudohypoparathyroidism Type 1A |
|
Enamel hypoplasia, Decreased response to growth hormone stimulation test, Low urinary cyclic AMP ... |
ORPHA:79443 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Jaundice, Reticulocytosis, Cholelithiasis, Splenomegaly, Spherocytosis |
OMIM:182900 |
Acute Lung Injury |
|
Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor secretion... |
ORPHA:178320 |
Bardet-Biedl Syndrome 17 |
|
Cognitive impairment, Hypogonadism, Stage 5 chronic kidney disease, Renal cyst, Polyuria, Obesity... |
OMIM:615994 |
Follicular Lymphoma |
|
Splenomegaly, Lymphadenopathy, Abnormality of the peritoneum, Mediastinal lymphadenopathy |
ORPHA:545 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Splenomegaly, Normocytic anemia, Jaundice, Reticulocytosis, Cholecystitis, Nonspherocytic hemolyt... |
OMIM:235700 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Hepatic steatosis, Elevated hepatic transaminase, Decreased liver function |
OMIM:616829 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Cirrhosis, Jaundice, Biliary tract abnormality, Neonatal cholestatic liver disease, Hepatomegaly,... |
ORPHA:79301 |
Apparent Mineralocorticoid Excess |
|
Decreased circulating aldosterone level, Abnormality of circulating cortisol level, Decreased cir... |
ORPHA:320 |
Neuroblastoma, Susceptibility To, 2 |
|
Neuroblastoma, Ganglioneuroma, Ganglioneuroblastoma |
OMIM:613013 |
Renal Hypoplasia |
|
Vesicoureteral reflux, Abnormal renal cortex morphology, Hydronephrosis, Renal insufficiency, Rec... |
ORPHA:93101 |
Alpha-Heavy Chain Disease |
|
Anemia, Lymphadenopathy, Hepatomegaly, Ascites, Splenomegaly |
ORPHA:100025 |
Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Splenomegaly |
ORPHA:1802 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Jaundice, Reticulocytosis, Splenomegaly, Acanthocytosis, Spherocytosis |
OMIM:616649 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia, Precocious puberty, Small for gestational age, Maturity-onset diabetes of t... |
ORPHA:96184 |
Trisomy 5P |
|
Obesity |
ORPHA:1742 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Obesity |
ORPHA:276630 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic fibrosis, Jaundice, Hepatic bridging fibrosis, Cholestasis, Splenomegaly |
OMIM:619658 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Obesity, Hypogonadism, Cryptorchidism |
OMIM:601794 |
Pseudohypoparathyroidism, Type Ic |
|
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Hypogonadism, Ele... |
OMIM:612462 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Obesity, Hypogonadism, Cryptorchidism |
ORPHA:363741 |
Whipple Disease |
|
Hypothyroidism, Cachexia, Insulin resistance, Ataxia, Hepatomegaly, Splenomegaly, Polydipsia |
ORPHA:3452 |
Chromosome Xq21 Deletion Syndrome |
|
Obesity |
OMIM:303110 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatic failure, Periportal fibrosis, Hepatocellular necrosis, Depletion of mitochondrial DNA in ... |
OMIM:251880 |
Overhydrated Hereditary Stomatocytosis |
|
Intermittent jaundice, Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decrea... |
ORPHA:3203 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Hypothyroidism, Dysdiadochokinesis, Insulin resistance, Gait disturbance, Ataxia, Inguinal hernia... |
OMIM:616541 |
Fish-Eye Disease |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:79292 |
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Precocious puberty, Obesity |
ORPHA:254525 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Jaundice, Anisopoikilocyto... |
OMIM:616689 |
Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
Seckel Syndrome 10 |
|
Elevated circulating alanine aminotransferase concentration, Impaired glucose tolerance, Glycosur... |
OMIM:617253 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Adrenogenital syndrome, Increased serum testosterone level, Decreased circulating aldosterone lev... |
OMIM:202010 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Periportal fibrosis, Hepatocellular necrosis, Nonketotic hypoglycemia, Hepatic steatosis, Hepatom... |
OMIM:201475 |
Cornelia De Lange Syndrome 5 |
|
Hypogonadism, Decreased testicular size, Synophrys, Long eyelashes, Hirsutism, Cryptorchidism, Tr... |
OMIM:300882 |
Gitelman Syndrome |
|
Parathyroid adenoma, Graves disease, Palpitations, Chondrocalcinosis, Decreased urinary potassium... |
ORPHA:358 |
Piebald Trait-Neurologic Defects Syndrome |
|
Irregular hyperpigmentation, Abnormal eyebrow morphology, Hypopigmented skin patches, Hypopigment... |
ORPHA:2885 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Silver-gray hair, Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melan... |
OMIM:256710 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Failure to thrive, Hyperaldosteronism, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism |
OMIM:264350 |
Immunodeficiency 61 |
|
Obesity, Attention deficit hyperactivity disorder |
OMIM:300310 |
Baralle-Macken Syndrome |
|
Cafe-au-lait spot, Obesity, Hirsutism |
OMIM:619255 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Abse... |
OMIM:614837 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Cirrhosis, Elevated hepatic transaminase, Portal fibrosis, Hepatic steatosis, F... |
ORPHA:264580 |
Hyperaldosteronism, Familial, Type Iv |
|
Hyperaldosteronism |
OMIM:617027 |
Insulin-Like Growth Factor I, Resistance To |
|
Decreased body weight, Reduced subcutaneous adipose tissue, Agitation, Lipodystrophy, Increased c... |
OMIM:270450 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:2786 |
Estrogen Resistance |
|
Increased serum estradiol, Hyperinsulinemia, Impaired glucose tolerance, Delayed puberty, Glucose... |
OMIM:615363 |
Multiple Endocrine Neoplasia Type 4 |
|
Pituitary corticotropic cell adenoma, Parathyroid adenoma, Hyperinsulinemic hypoglycemia, Pituita... |
ORPHA:276152 |
Intellectual Developmental Disorder, Autosomal Recessive 46 |
|
Delayed speech and language development, Large for gestational age, Aggressive behavior, Self-inj... |
OMIM:616116 |
Microtriplication 11Q24.1 |
|
Synophrys, Long eyelashes, Obesity, Hyperlipidemia, Thick eyebrow |
ORPHA:289522 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Small for gestational age, Glycosuria, Type I diabetes mellitus, Hyperglycemia, Athetosis |
OMIM:618857 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Hyperactivity, Decreased body weight, Bundle branch block, Dysphagia, Enuresis, Bradyphrenia, Obe... |
ORPHA:589821 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Anemia, Hypersplenism, Hepatomegaly, Thrombocytopenia, Splenomegaly |
OMIM:610539 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperaldosteronism, Pseudohypoaldosteronism, Increased circulating renin level, Failure to thrive... |
OMIM:177735 |
Citrullinemia Type Ii |
|
Hyperactivity, Hepatic fibrosis, Hepatocellular carcinoma, Elevated hepatic transaminase, Hepatic... |
ORPHA:247585 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Failure to thrive, Macrovesicular hepatic steatosis, Hepatomegaly |
OMIM:618234 |
Intellectual Developmental Disorder With Autism And Macrocephaly |
|
Pronoun reversal, Echolalia, Delayed speech and language development, Overweight, Tall stature, A... |
OMIM:615032 |
Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus, Unsteady gait |
OMIM:520000 |
Infantile Liver Failure Syndrome 1 |
|
Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Hepatomegaly, Acute hepatic ... |
OMIM:615438 |
Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia |
OMIM:619489 |
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Obesity |
ORPHA:521390 |
Peripartum Cardiomyopathy |
|
Sinus tachycardia, Cardiogenic shock, Palpitations, Abnormality of thyroid physiology, Elevated j... |
ORPHA:563 |
Lipodystrophy, Familial Partial, Type 7 |
|
Gait ataxia, Recurrent pancreatitis, Dysdiadochokinesis, Impaired glucose tolerance, Small for ge... |
OMIM:606721 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Elevated circulating 17-hydroxyprogesterone concentration, Adrenal insufficiency, Impaired cortis... |
OMIM:201810 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Anemia, Congenital hemolytic anemia, Reticulocytosis, Poikilocytosis, Abnormal erythrocyte morpho... |
ORPHA:766 |
Pure Autonomic Failure |
|
Abnormality of circulating catecholamine level |
ORPHA:441 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Ketotic hypoglycemia, Glycosuria, Elevated hepatic transaminase, Failure to thrive, Postprandial ... |
ORPHA:2089 |
Hemochromatosis, Type 2B |
|
Hepatic fibrosis, Cirrhosis, Anemia, Hepatomegaly, Splenomegaly |
OMIM:613313 |
Narcolepsy 7 |
|
Type II diabetes mellitus, Obesity |
OMIM:614250 |
Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Splenomegaly |
OMIM:214900 |
Progressive Familial Intrahepatic Cholestasis |
|
Splenomegaly, Jaundice, Cholestasis, Hepatomegaly |
ORPHA:172 |
Sheehan Syndrome |
|
Abnormal size of pituitary gland, Gonadotropin deficiency, Decreased serum estradiol, Sparse axil... |
ORPHA:91355 |
7Q11.23 Microduplication Syndrome |
|
Hyperactivity, Simplified gyral pattern, Unilateral renal agenesis, Inguinal hernia, Congenital d... |
ORPHA:96121 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Hypothyroidism, Cirrhosis, Weight loss, Cholangiocarcinoma, Hepatocellular carcinoma, Chronic hep... |
ORPHA:465508 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia, Ataxia |
OMIM:618970 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic fibrosis, Jaundice, Portal fibrosis, Hepatomegaly, Iron deficiency anemia, Portal hyperte... |
OMIM:616278 |
Oligomeganephronia |
|
Renal tubular atrophy, Abnormal renal cortex morphology, Abnormal nephron morphology, Small for g... |
ORPHA:2260 |
Glycogen Storage Disease Ixb |
|
Increased hepatic glycogen content, Hypoglycemia, Hepatomegaly, Increased muscle glycogen content... |
OMIM:261750 |
Retinal Dystrophy And Obesity |
|
Obesity |
OMIM:616188 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Type II diabetes mellitus, Hypertriglyceridemia, Obesity |
OMIM:618620 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia, Splenomegaly |
ORPHA:66518 |
Idiopathic Neonatal Atrial Flutter |
|
Supraventricular tachycardia, Reduced left ventricular ejection fraction, Abnormal EKG, Maternal ... |
ORPHA:45452 |
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome |
|
Melanocytic nevus, Truncal obesity |
ORPHA:85280 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Cirrhosis, Hepatocellular carcinoma, Elevated hepatic transaminase, Portal fibr... |
ORPHA:370 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Reduced natural killer cell activity, Abnormal... |
ORPHA:540 |
Leprechaunism |
|
Central hypothyroidism, Hyperinsulinemia, Hyperaldosteronism, Decreased body weight, Reduced subc... |
ORPHA:508 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased circulating dehydroepiandrosterone-sulfate concentration, Decreased circulating cortiso... |
ORPHA:95699 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Splenomegaly |
OMIM:613101 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Anemia, Bone-marrow foam cells, Hepatomegaly, Thrombocytopenia, Splenomegaly |
OMIM:607616 |
Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... |
ORPHA:521 |
Rett Syndrome |
|
Increased serum leptin, Inability to walk, Gait disturbance, Agitation, Failure to thrive, Cholec... |
ORPHA:778 |
Rafiq Syndrome |
|
Sparse eyebrow, Sparse lateral eyebrow, Broad eyebrow, Long eyebrows, Truncal obesity, Obesity, H... |
OMIM:614202 |
Werner Syndrome |
|
Hypogonadism, Thyroid carcinoma, Type II diabetes mellitus, Insulin resistance, Lipodystrophy, Sl... |
ORPHA:902 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Neonatal hypoglycemia, Hepatic steatosis, Hypoglycemia, Hepatomega... |
OMIM:212138 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Thrombocytopen... |
OMIM:314050 |
Pseudohypoparathyroidism, Type Ia |
|
Hypothyroidism, Hypogonadism, Elevated circulating parathyroid hormone level, Pseudohypoparathyro... |
OMIM:103580 |
Bardet-Biedl Syndrome 1 |
|
Hepatic fibrosis, Gait imbalance, Hypogonadism, Left ventricular hypertrophy, Insulin resistance,... |
OMIM:209900 |
Pituitary Adenoma 4, Acth-Secreting |
|
Increased circulating ACTH level, Pituitary adenoma, Hirsutism, Obesity, Abdominal obesity |
OMIM:219090 |
Radio-Tartaglia Syndrome |
|
High anterior hairline, Small nail, Precocious puberty, Synophrys, Long eyebrows, Long eyelashes,... |
OMIM:619312 |
Nephronophthisis-Like Nephropathy 2 |
|
Stage 5 chronic kidney disease, Polyuria, Tubular luminal dilatation, Renal insufficiency, Perigl... |
OMIM:619468 |
Parathyroid Carcinoma |
|
Nephroblastoma, Primary hyperparathyroidism, Renal insufficiency, Weight loss, Thyroid carcinoma,... |
ORPHA:143 |
Aromatase Deficiency |
|
Enlarged polycystic ovaries, Type II diabetes mellitus, Insulin resistance, Eunuchoid habitus, He... |
ORPHA:91 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi... |
ORPHA:231154 |
Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Obesity |
OMIM:300238 |
Hodgkin Lymphoma |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:98293 |
Carney Complex, Type 1 |
|
Profuse pigmented skin lesions, Thyroid carcinoma, Pituitary adenoma, Multiple lentigines, Pheoch... |
OMIM:160980 |
Cushing Disease |
|
Sparse scalp hair, Pituitary corticotropic cell adenoma, Increased circulating cortisol level, In... |
ORPHA:96253 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Splenomegaly, Pancytopenia |
OMIM:614979 |
Bardet-Biedl Syndrome |
|
Medial flaring of the eyebrow, Hypogonadism, Hypoplasia of the ovary, Cryptorchidism, Obesity, Ge... |
ORPHA:110 |
Amyloidosis, Familial Visceral |
|
Splenomegaly, Cholestasis, Hepatomegaly |
OMIM:105200 |
Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Generalized hyperpigmentation, Premature ... |
ORPHA:33445 |
Hyperaldosteronism, Familial, Type Ii |
|
Hyperaldosteronism |
OMIM:605635 |
Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair, Dysphagia, Abnorma... |
ORPHA:411511 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Hepatic necrosis, Hepatic steatosis, Hypoglycemic seizures, Fulminant h... |
OMIM:231530 |
Clark-Baraitser Syndrome |
|
Hyperactivity, Obesity |
OMIM:617752 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hyperactivity, Obesity |
ORPHA:397973 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Failure to thrive, Hypoglycemia, Lethargy, Acute hepatic steatosis |
OMIM:210200 |
Senior-Loken Syndrome 4 |
|
Stage 5 chronic kidney disease, Polyuria, Nephronophthisis, Polydipsia |
OMIM:606996 |
Fanconi-Bickel Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Abnormal hepatic gl... |
ORPHA:2088 |
Laron Syndrome |
|
Hypercholesterolemia, Delayed puberty, Abnormality of the endocrine system, Truncal obesity |
ORPHA:633 |
13Q12.3 Microdeletion Syndrome |
|
Hyperactivity, Camptodactyly, Congenital diaphragmatic hernia, Failure to thrive, Obesity |
ORPHA:412035 |
Hypomagnesemia 3, Renal |
|
Hypocitraturia, Hypercitraturia, Recurrent urinary tract infections, Hypermagnesiuria, Hypercalci... |
OMIM:248250 |
Hypokalemic Tubulopathy And Deafness |
|
Hyperaldosteronism, Increased circulating renin level |
OMIM:619406 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hypothyroidism, Hepatic fibrosis, Achilles tendon contracture, Ataxia, Hepatic steatosis, Failure... |
OMIM:616263 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Obesity, Congestive heart failure |
ORPHA:3077 |
Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Synophrys, Hyperactivity, Truncal obesity |
OMIM:613192 |
Adiposis Dolorosa |
|
Sparse axillary hair, Hypothyroidism, Obesity, Sparse pubic hair |
ORPHA:36397 |
Waardenburg-Shah Syndrome |
|
Abnormal eyebrow morphology, Premature graying of hair, Synophrys, White eyelashes, White eyebrow... |
ORPHA:897 |
Dpm1-Cdg |
|
Knee flexion contracture, Hepatic fibrosis, Camptodactyly, Elevated hepatic transaminase, Ataxia,... |
ORPHA:79322 |
Hepatic Veno-Occlusive Disease |
|
Jaundice, Elevated hepatic transaminase, Hepatomegaly, Ascites, Increased body weight |
ORPHA:890 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Ataxia, Puberty and gonadal disorders, Difficulty walking, Unsteady gait, Obesity, Waddling gait |
ORPHA:464282 |
Immunodeficiency 64 With Lymphoproliferation |
|
Decreased proportion of CD4-positive T cells, Hepatosplenomegaly, Autoimmune thrombocytopenia, In... |
OMIM:618534 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Elbow flexion contracture, Achilles tendon contracture, Supraventricular ar... |
ORPHA:98855 |
Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Abnormal macrophage morphology, Pancytopenia, Abnormality of neutr... |
ORPHA:2585 |
X-Linked Sideroblastic Anemia |
|
Anemia, Splenomegaly |
ORPHA:75563 |
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies |
|
Obesity |
OMIM:606772 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Unsteady gait, Obesity, Loss of ambulation, Ataxia |
OMIM:618124 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Pulmonary arterial hypertension, Hypothyroidism, Flexion contracture, Abnormality of the kidney, ... |
ORPHA:391372 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly |
ORPHA:664 |
Weaver Syndrome |
|
Joint contracture of the hand, Camptodactyly, Inguinal hernia, Overgrowth, Polyphagia, Umbilical ... |
OMIM:277590 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Jaundice, Acholic stools, Portal fibrosis, Hepatomegaly, Splenomegaly |
OMIM:619868 |
Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Granulocytopenia, Normo... |
ORPHA:75564 |
Monosomy 13Q34 |
|
Hepatic steatosis, Obesity, Insulin resistance |
ORPHA:96168 |
Distal 16P11.2 Microdeletion Syndrome |
|
Vesicoureteral reflux, Abnormality of the kidney, Renal agenesis, Attention deficit hyperactivity... |
ORPHA:261222 |
Acrodysostosis With Multiple Hormone Resistance |
|
Hyperactivity, Decreased response to growth hormone stimulation test, Hypogonadism, Fair hair, El... |
ORPHA:280651 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Abnormal lymph node morphology, Anemia, Hepatosplenomegaly, Leukocytosis, Extramedullary hematopo... |
OMIM:612840 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated circulating alanine aminotransferase concentration, Hepatitis, Elevated hepatic transami... |
OMIM:614921 |
48,Xxxy Syndrome |
|
Pulmonary embolism, Hypogonadism, Renal dysplasia, Type II diabetes mellitus, Hypoplasia of penis... |
ORPHA:96263 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... |
OMIM:614582 |
Ochoa Syndrome |
|
Urinary incontinence, Vesicoureteral reflux, Recurrent urinary tract infections, Hypertension, Re... |
ORPHA:2704 |
Summitt Syndrome |
|
Obesity, Tall stature |
ORPHA:3210 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Obesity, Attention deficit hyperactivity disorder |
OMIM:301013 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Small for gestational age, Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia |
OMIM:618858 |
Adnp Syndrome |
|
Urinary incontinence, Recurrent urinary tract infections, Inguinal hernia, Attention deficit hype... |
ORPHA:404448 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Abnormality of the ureter, Obesity, Umbilical hernia |
ORPHA:1035 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Type II diabetes mellitus, Truncal obesity, Hypercholesterolemia, Hypertriglyceridemia, Abdominal... |
OMIM:615812 |
Blue Diaper Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Elevated hepatic transaminase, Re... |
ORPHA:94086 |
19P13.12 Microdeletion Syndrome |
|
Hypothyroidism, Hyperactivity, Precocious puberty, Synophrys, Hyperlipidemia, Cryptorchidism, Obe... |
ORPHA:254346 |
Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Elbow flexion contracture, Achilles tendon contracture, Supraventricular ar... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Elbow flexion contracture, Achilles tendon contracture, Supraventricular ar... |
ORPHA:98853 |
East Syndrome |
|
Hyperaldosteronism, Renal sodium wasting, Renal salt wasting, Increased circulating renin level, ... |
ORPHA:199343 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Hyperactivity, Hypogonadism, Simplified gyral pattern, Delayed puberty, Hypospadias, Abdominal ob... |
OMIM:300354 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Enamel hypoplasia, Hip contracture, Inguinal hernia, Truncal obesity, Amelogenesis imperfecta, Ob... |
OMIM:618363 |
Bardet-Biedl Syndrome 21 |
|
Obesity, Overweight |
OMIM:617406 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Cirrhosis, Weight loss, Cachexia, Elevated hepatic transaminase, Hypergonadotropic hypogonadism, ... |
ORPHA:298 |
Nephrogenic Diabetes Insipidus |
|
Hyposthenuria, Enuresis nocturna, Hypovolemia, Hydroureter, Nephrogenic diabetes insipidus, Failu... |
ORPHA:223 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Obesity, Cognitive impairment, Telangiectasia |
ORPHA:459033 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Central hypothyroidism, Cyanosis, Increased circulating prolactin concentration, Gonadotropin def... |
ORPHA:293987 |
Silver-Russell Syndrome |
|
Precocious puberty, Cachexia, Insulin resistance, Recurrent hypoglycemia, Obesity, Failure to thr... |
ORPHA:813 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hepatitis, Cholesterol gallstones, Hepatic steatosis, Cholestasis, Acute hepatic steatosis, Obesi... |
ORPHA:209902 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Cirrhosis, Jaundice, Portal inflammation, Portal fibrosis, Intrahepatic cholestasis, Bile duct pr... |
OMIM:602347 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Obesity, Pseudohypoparathyroidism, Cryptorchidism, Abnormality of the endocrine system |
ORPHA:464288 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Nephroblastoma, Primary hyperparathyroidism, Renal insufficiency, Parathyroid adenoma, Thyroid ca... |
ORPHA:99880 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Renal agenesis, Hypospadias, Renal hypoplasia, Obesity, Micropenis, Umbilical hernia |
ORPHA:171839 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Camptodactyly of finger, Gait disturbance, Truncal obesity |
ORPHA:2928 |
Cholesteryl Ester Storage Disease |
|
Jaundice, Cirrhosis, Splenomegaly, Hepatomegaly |
ORPHA:75234 |
Laurence-Moon Syndrome |
|
Obesity, Pigmentary retinopathy |
OMIM:245800 |
Patent Ductus Venosus |
|
Hepatic steatosis, Decreased liver function |
OMIM:601466 |
Dysplastic Cortical Hyperostosis |
|
Splenomegaly, Hepatomegaly |
ORPHA:2204 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Elbow flexion contracture, Achilles tendon contracture, Supraventricular ar... |
ORPHA:98863 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Cholelithiasis, Spontaneous hemolytic crises, Jaundice, Cholecystitis, Impaired neutrophil bacter... |
OMIM:613470 |
Cimdag Syndrome |
|
Microvesicular hepatic steatosis, Hypogonadism, Ataxia, Lipodystrophy, Hepatomegaly, Cholelithiasis |
OMIM:619273 |
Septo-Optic Dysplasia Spectrum |
|
Diabetes insipidus, Anterior pituitary hypoplasia, Maternal diabetes, Hypoplasia of penis, Obesit... |
ORPHA:3157 |
Acquired Central Diabetes Insipidus |
|
Weight loss, Diabetes insipidus, Pollakisuria, Polydipsia |
ORPHA:95626 |
Polycythemia Vera |
|
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... |
OMIM:263300 |
Pfapa Syndrome |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:42642 |
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Hyperactivity, Obesity, Long eyelashes, Tall stature |
OMIM:618089 |
Immunodeficiency 27A |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy, Thrombocytosis, Leukocytosis, Histiocytosis, Enlarge... |
OMIM:209950 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis |
OMIM:615119 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Small for gestational age, Diabetes mellitus, Type I diabetes mellitus, Hyperglycemia |
OMIM:606176 |
15Q24 Microdeletion Syndrome |
|
High anterior hairline, Decreased response to growth hormone stimulation test, Small for gestatio... |
ORPHA:94065 |
Dysbetalipoproteinemia |
|
Hypothyroidism, Hepatic steatosis, Diabetes mellitus, Acute pancreatitis, Hepatomegaly, Obesity |
ORPHA:412 |
Lynch Syndrome 5 |
|
Neoplasm of the pancreas, Ovarian neoplasm, Endometrial carcinoma, Hereditary nonpolyposis colore... |
OMIM:614350 |
Bardet-Biedl Syndrome 3 |
|
Obesity |
OMIM:600151 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Decreased proportion of marginal zone B cells, Coombs-positive hemolytic anemia, Autoimmune throm... |
OMIM:619375 |
Polymerase Proofreading-Related Adenomatous Polyposis |
|
Breast carcinoma, Colorectal polyposis, Adenocarcinoma of the colon, Neoplasm of the rectum, Brai... |
ORPHA:447877 |
Alpha-1-Antitrypsin Deficiency |
|
Cirrhosis, Hepatocellular carcinoma, Splenomegaly |
OMIM:613490 |
Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Jaundice, Acholic stools, Biliary tract abnormality, Neonatal cholestatic liver diseas... |
ORPHA:1414 |
Borjeson-Forssman-Lehmann Syndrome |
|
Hypogonadism, Decreased testicular size, Truncal obesity, Cryptorchidism, Thick eyebrow, Sparse hair |
ORPHA:127 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Cirrhosis, Hepatosplenomegaly, Hepatomegaly, Cholestatic liver disease, Prolonged neonatal jaundi... |
OMIM:616828 |
Glycogen Storage Disease Ixc |
|
Cirrhosis, Elevated hepatic transaminase, Increased hepatic glycogen content, Hypoglycemia, Bile ... |
OMIM:613027 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Hypoketotic hypoglycemia, Hepatic failure, Elevated hepatic transaminase, Hepatic steatosis, Hepa... |
ORPHA:228305 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Hepatic failure, Jaundice, Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, G... |
ORPHA:79303 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Increased circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone c... |
ORPHA:99832 |
Xp22.13P22.2 Duplication Syndrome |
|
Congenital diaphragmatic hernia, Attention deficit hyperactivity disorder, Umbilical hernia, Trun... |
ORPHA:284180 |
Multiple Endocrine Neoplasia, Type I |
|
Increased circulating prolactin concentration, Parathyroid adenoma, Adenoma sebaceum, Increased c... |
OMIM:131100 |
3-Methylglutaconic Aciduria, Type V |
|
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, El... |
OMIM:610198 |
Portal Hypertension, Noncirrhotic, 2 |
|
Nodular regenerative hyperplasia of liver, Hepatocellular carcinoma, Thrombocytopenia, Hepatomega... |
OMIM:619463 |
Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Hepatomegaly, Mediastinal lymphadenopathy, Thrombocytopenia, Splenomegaly |
ORPHA:158029 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Knee flexion contracture, Elevated circulating alanine aminotransferase concentration, Enlarged k... |
OMIM:608836 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, Precocious puberty, Abnormality of neuronal migration, Mental deterioration, Obesi... |
ORPHA:163681 |
X-Linked Intellectual Disability, Hedera Type |
|
Inability to walk, Left ventricular hypertrophy, Gait disturbance, Dysmetria, Unsteady gait, Obesity |
ORPHA:93952 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Cafe-au-lait spot, Hypogonadism, Decreased testicular size, Frontal balding, Blue irides, Truncal... |
ORPHA:3041 |
Piebaldism |
|
Piebaldism, Synophrys, White eyelashes, White eyebrow, Hypopigmented skin patches, White forelock... |
ORPHA:2884 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hypopigmentation of the skin, Hyperactivity, Iris hypopigmentation, Hypopigmentation of hair, Dys... |
ORPHA:98794 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Anemia, Poikilocytosis, Decreased mean corpuscular volume, Hepatomegaly, Elevated hepatic iron co... |
OMIM:615234 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Long eyelashes, Polyphagia, Low posterior hairline, Thick eyebrow, Highly arched eyebrow |
OMIM:156200 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Hyperaldosteronism, Renal sodium wasting, Renal salt wasting, Increased circulating renin level, ... |
OMIM:612780 |
Autoimmune Lymphoproliferative Syndrome |
|
Chronic noninfectious lymphadenopathy, Coombs-positive hemolytic anemia, Neutropenia in presence ... |
OMIM:601859 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Truncal ataxia, Elevated hepatic transaminase, Hepatic steatosis, Difficulty walking, Hepatomegal... |
ORPHA:369840 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Jaundice, Erythroid hyperplasia, Reticulocytosis, Cholecystitis, Chronic hemolytic anemia, Decrea... |
OMIM:266200 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoketotic hypoglycemia, Tip-toe gait, Diffuse hepatic steatosis, Left ventricular hypertrophy, ... |
ORPHA:746 |
Osteopetrosis, Autosomal Recessive 8 |
|
Anemia, Thrombocytopenia, Splenomegaly, Hepatomegaly |
OMIM:615085 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Restlessness, Sparse hair, Fine hair, Polyphagia |
ORPHA:251028 |
Smith-Magenis Syndrome |
|
Hypothyroidism, Hypertriglyceridemia, Precocious puberty, Synophrys, Delayed puberty, Attention d... |
ORPHA:819 |
Helsmoortel-Van Der Aa Syndrome |
|
Hyperactivity, Enuresis nocturna, Decreased response to growth hormone stimulation test, Recurren... |
OMIM:615873 |
Indolent Systemic Mastocytosis |
|
Mastocytosis, Lymphadenopathy, Increased proportion of CD25+ mast cells, Hepatomegaly, Abnormal m... |
ORPHA:98848 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Disproportionate tall stature, Hepatic steatosis, Inguinal hernia, Failure to thrive, Tall statur... |
OMIM:236200 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Pituitary corticotropic cell adenoma, Atypical pulmonary carcinoid tumor, Adrenal hyperplasia, Pa... |
ORPHA:99889 |
Early-Onset Schizophrenia |
|
Cognitive impairment, Addictive behavior, Attention deficit hyperactivity disorder, Polyphagia, R... |
ORPHA:96369 |
Nephronophthisis 1 |
|
Renal tubular atrophy, Hyposthenuria, Stage 5 chronic kidney disease, Renal corticomedullary cyst... |
OMIM:256100 |
Chromosome 16P13.3 Deletion Syndrome, Proximal |
|
Failure to thrive, Abnormality of the hairline, Obesity, Facial hypertrichosis |
OMIM:610543 |
Senior-Loken Syndrome 9 |
|
Obesity, Hypogonadism |
OMIM:616629 |
Urban-Rogers-Meyer Syndrome |
|
Obesity, Hypogonadism, Cryptorchidism |
ORPHA:3409 |
Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Obesity, Arrhythmia |
OMIM:600430 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypothyroidism, Hypopituitarism, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic steat... |
OMIM:619013 |
Neutral Lipid Storage Myopathy |
|
Very long chain fatty acid accumulation, Chronic pancreatitis, Pineal cyst, Elevated hepatic tran... |
ORPHA:98908 |
Oculocutaneous Albinism Type 4 |
|
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Abnormality of re... |
ORPHA:79435 |
X-Linked Intellectual Disability, Stevenson Type |
|
Thick eyebrow, Obesity, Tall stature |
ORPHA:85325 |
Myelofibrosis |
|
Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Impulsivity, Attention deficit hyperactivity disorder, Increased body weight |
ORPHA:589905 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatitis, Pancytopenia, Hemophagocytosis, Hepatomegaly, Aplastic anemia, Splenomegaly |
OMIM:300635 |
Chromosome 3Q29 Duplication Syndrome |
|
Obesity, Low posterior hairline |
OMIM:611936 |
Panhypophysitis |
|
Increased circulating prolactin concentration, Hyposthenuria, Gonadotropin deficiency, Decreased ... |
ORPHA:95513 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly |
OMIM:618495 |
Piebald Trait |
|
Absent pigmentation of the ventral chest, Piebaldism, White forelock, Heterochromia iridis, Parti... |
OMIM:172800 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
B lymphocytopenia, Lymphadenopathy, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocyto... |
OMIM:150550 |
Wolfram Syndrome |
|
Diabetes insipidus, Hypogonadism, Recurrent urinary tract infections, Dysuria, Dementia, Male hyp... |
ORPHA:3463 |
Congenital Myopathy 9A |
|
Obesity |
OMIM:618822 |
Atkin-Flaitz Syndrome |
|
Obesity |
ORPHA:1193 |
Interstitial Lung And Liver Disease |
|
Hypothyroidism, Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Ci... |
OMIM:615486 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Increased intramyocellular lipid droplets, Ataxia, Hepatic steatos... |
ORPHA:98907 |
Sclerosing Cholangitis, Neonatal |
|
Biliary cirrhosis, Cirrhosis, Sclerosing cholangitis, Jaundice, Acholic stools, Portal fibrosis, ... |
OMIM:617394 |
Lymphoproliferative Syndrome 2 |
|
Pancytopenia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Ascites, Aplas... |
OMIM:615122 |
Hyperparathyroidism, Neonatal Severe |
|
Aminoaciduria, Hyperphosphaturia, Hypercalciuria, Failure to thrive, Elevated circulating parathy... |
OMIM:239200 |
Waardenburg Syndrome Type 1 |
|
Premature graying of hair, Synophrys, White eyelashes, White eyebrow, Hypopigmented skin patches,... |
ORPHA:894 |
Infantile Nephropathic Cystinosis |
|
Aminoaciduria, Cognitive impairment, Abnormality of thyroid physiology, Glycosuria, Hyperphosphat... |
ORPHA:411629 |
Retinitis Pigmentosa 51 |
|
Obesity, Bone spicule pigmentation of the retina |
OMIM:613464 |
Hemochromatosis Type 4 |
|
Hepatic steatosis, Cirrhosis, Congenital hepatic fibrosis |
ORPHA:139491 |
X-Linked Intellectual Disability, Shashi Type |
|
Obesity |
ORPHA:85286 |
Schnitzler Syndrome |
|
Anemia, Lymphadenopathy, Leukocytosis, Hepatomegaly, Splenomegaly |
ORPHA:37748 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Delayed puberty, Insulin resistance, Generalized lipodystrophy |
ORPHA:90154 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hyperinsulinemia, Abnormal EKG, Syncope, Insulin resistance, Nocturia, Elevated urinary dopamine,... |
ORPHA:230 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Cirrhosis, Microvesicular hepatic steatosis, Polysplenia, Macronodular cirrhosis, Neonatal hypogl... |
OMIM:619418 |
Idiopathic Copper-Associated Cirrhosis |
|
Hepatic steatosis, Copper accumulation in liver, Cirrhosis |
ORPHA:209919 |
Rotor Syndrome |
|
Intermittent jaundice, Storage in hepatocytes, Jaundice |
ORPHA:3111 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Diabetes insipidus, Failure to thrive, Polyuria, Megacystis, Polydipsia |
OMIM:304800 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Glycosuria, Diffuse hepatic steatosis, Gait disturbance, Ataxia, Failure to thrive, Hepatomegaly,... |
ORPHA:436271 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Failure to thrive, Polyuria, Megacystis, Nephrogenic diabetes insipidus, Polydipsia |
OMIM:125800 |
Cold Agglutinin Disease |
|
Splenomegaly, Lymphadenopathy, Hemolytic anemia, Hepatomegaly |
ORPHA:56425 |
Joubert Syndrome 33 |
|
Splenomegaly |
OMIM:617767 |
Infantile Liver Failure Syndrome 3 |
|
Jaundice, Elevated hepatic transaminase, Hepatic bridging fibrosis, Hepatic steatosis, Cholestasi... |
OMIM:618641 |
Congenital Macroglossia |
|
Hypothyroidism, Abnormal hepatic glycogen storage |
ORPHA:2430 |
Bangstad Syndrome |
|
Primary gonadal insufficiency, Small for gestational age, Insulin-resistant diabetes mellitus, Pr... |
OMIM:210740 |
Beta-Ketothiolase Deficiency |
|
Oral aversion, Weight loss, Agitation, Ataxia, Hypoglycemia, Hepatomegaly, Hyperglycemia |
ORPHA:134 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Small for gestational age, Jaundice, Elevated hepatic transaminase, Ove... |
ORPHA:26793 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, He... |
OMIM:194380 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Camptodactyly, Disproportionate tall stature, Mitral regurgitation, Attention deficit hyperactivi... |
OMIM:301039 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Neonatal hypoglycemia, Hepatic steatosis, Hypoglycemia, Hepatomega... |
ORPHA:348 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hypothyroidism, Hepatic fibrosis, Flexion contracture, Abnormal subcutaneous fat tissue distribut... |
OMIM:212065 |
Wagr Syndrome |
|
Obesity, Cryptorchidism |
ORPHA:893 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, El... |
OMIM:615595 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyperaldosteronism, Increased circulating renin level |
OMIM:620126 |
Immunodeficiency 7 |
|
Hypereosinophilia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Neutropenia, Splen... |
OMIM:615387 |
Harderoporphyria |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly |
OMIM:618892 |
Adrenomyodystrophy |
|
Hepatic steatosis, Failure to thrive, Primary adrenal insufficiency |
ORPHA:977 |
Atypical Werner Syndrome |
|
Decreased body weight, Neoplasm of the thyroid gland, Chondrocalcinosis, Fasting hyperinsulinemia... |
ORPHA:79474 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Jaundice, Cholestasis, Hepatomegaly, Portal hypertension, Splenomegaly |
ORPHA:59303 |
Joubert Syndrome 37 |
|
Decreased testicular size, Obesity, Sparse hair, Cryptorchidism |
OMIM:619185 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Weight loss, Fine hair, Hypopigmentation of hair, Generalized hirsutism |
ORPHA:2221 |
Marbach-Rustad Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Insulin resistance |
OMIM:619322 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyposthenuria, Hyperactive renin-angiotensin system, Hyperaldosteronism, Small for gestational ag... |
OMIM:241200 |
Chanarin-Dorfman Syndrome |
|
Hepatic steatosis, Ataxia, Hepatomegaly |
OMIM:275630 |
Proximal Renal Tubular Acidosis |
|
Aminoaciduria, Hyperuricosuria, Enamel hypomineralization, Hypovolemia, Glycosuria, Hyperphosphat... |
ORPHA:47159 |
Greig Cephalopolysyndactyly Syndrome |
|
Joint contracture of the hand, Camptodactyly of toe, Inguinal hernia, Hyperglycemia, Umbilical he... |
OMIM:175700 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyperaldosteronism, Increased circulating renin level |
OMIM:620125 |
Erythrocytosis, Familial, 1 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly |
OMIM:133100 |
X-Linked Intellectual Disability, Cabezas Type |
|
Hyperactivity, Hypogonadism, Decreased testicular size, Synophrys, Cachexia, Abnormal hair patter... |
ORPHA:85293 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Obesity, Cryptorchidism |
OMIM:615633 |
Citrullinemia, Type Ii, Adult-Onset |
|
Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Ballooning hepatoc... |
OMIM:603471 |
Osteopetrosis, Autosomal Dominant 3 |
|
Anemia, Splenomegaly, Hepatomegaly |
OMIM:618107 |
Clark-Baraitser syndrome |
|
Macroorchidism, Obesity, Tall stature |
OMIM:300602 |
Hepatoportal Sclerosis |
|
Nodular regenerative hyperplasia of liver, Leukopenia, Anemia, Periportal fibrosis, Hypersplenism... |
ORPHA:64743 |
Ring Chromosome Y Syndrome |
|
Male hypogonadism, Unilateral cryptorchidism, Cryptorchidism, Streak ovary, Obesity |
ORPHA:261529 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Glycosuria, Jaundice, Hepatic steatosis, Hypoglycemia, Hepatomegaly, Hepatic periportal necrosis |
OMIM:231680 |
Brain-Lung-Thyroid Syndrome |
|
Pulmonary arterial hypertension, Vesicoureteral reflux, Hyperactivity, Thyroid hemiagenesis, Elev... |
ORPHA:209905 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
Momo Syndrome |
|
Large for gestational age, Overgrowth, Hyperconvex nail, Tall stature, Abnormality of the thyroid... |
ORPHA:2563 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hepatic failure, Cirrhosis, Microvesicular hepatic steatosis, Jaundice, Elevated hepatic transami... |
OMIM:617156 |
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism |
|
Decreased circulating follicle stimulating hormone concentration, Delayed puberty, Cryptorchidism... |
OMIM:619761 |
Beta-Thalassemia |
|
Anemia, Hepatitis, Hepatomegaly, Cholelithiasis, Thrombocytopenia, Abnormal hemoglobin, Splenomeg... |
ORPHA:848 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatic failure, Hepatic fibrosis, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic ste... |
ORPHA:541423 |
Pancreatic And Cerebellar Agenesis |
|
Pancreatic hypoplasia, Flexion contracture, Reduced subcutaneous adipose tissue, Failure to thriv... |
OMIM:609069 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Intermittent jaundice, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Hepatomegal... |
OMIM:601847 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperglycemia, Gait disturbance |
OMIM:604484 |
Cystinosis, Nephropathic |
|
Aminoaciduria, Hyperphosphaturia, Low-molecular-weight proteinuria, Dysphagia, Nephrolithiasis, P... |
OMIM:219800 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Hepatomegaly |
ORPHA:163596 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Oral aversion, Precocious puberty, Decreased response to growth hormone stimulation test, Small f... |
ORPHA:96182 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Hepatic failure, Small for gestational age, Jau... |
ORPHA:567983 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Nonketotic hypoglycemia, Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Acu... |
ORPHA:99901 |
Juvenile Nephropathic Cystinosis |
|
Abnormal urine potassium concentration, Hypothyroidism, Aminoaciduria, Proximal tubulopathy, Rena... |
ORPHA:411634 |
Oculocutaneous Albinism |
|
Hypopigmentation of the skin, Generalized hypopigmentation of hair, Ocular albinism, Generalized ... |
ORPHA:55 |
Immunodeficiency, Common Variable, 1 |
|
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, Decreas... |
OMIM:607594 |
Griscelli Syndrome Type 2 |
|
Jaundice, Pancytopenia, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Neutropenia, Splenomegaly |
ORPHA:79477 |
Combined Oxidative Phosphorylation Deficiency 21 |
|
Hepatic steatosis |
OMIM:615918 |
Wilson Disease |
|
Elevated circulating alanine aminotransferase concentration, Cirrhosis, Hepatic failure, Glycosur... |
OMIM:277900 |
Macrocephaly/Autism Syndrome |
|
Large for gestational age, Hydrocele testis, Overgrowth, Coarse hair, Obesity |
OMIM:605309 |
1P36 Deletion Syndrome |
|
Camptodactyly of finger, Hypothyroidism, Abnormality of the liver, Hypogonadism, Annular pancreas... |
ORPHA:1606 |
3-Methylglutaconic Aciduria, Type Viib |
|
Flexion contracture, Choreoathetosis, Ataxia, Neonatal hypoglycemia, Hepatic steatosis |
OMIM:616271 |
Tatton-Brown-Rahman Syndrome |
|
Tricuspid regurgitation, Neuroendocrine neoplasm, Supraventricular tachycardia with an accessory ... |
ORPHA:404443 |
3-Methylglutaconic Aciduria Type 7 |
|
Hypothyroidism, Choreoathetosis, Elevated hepatic transaminase, Neonatal hypoglycemia, Hepatic st... |
ORPHA:445038 |
Atkin-Flaitz Syndrome |
|
Macroorchidism, Obesity, Tall stature |
OMIM:300431 |
Pde4D Haploinsufficiency Syndrome |
|
Hypotension, Elevated circulating parathyroid hormone level, Hypospadias, Obesity, Abnormal denta... |
ORPHA:439822 |
Glycogen Storage Disease Ixa1 |
|
Splenomegaly, Hepatomegaly |
OMIM:306000 |
Congenital Analbuminemia |
|
Small for gestational age, Lipodystrophy, Obesity, Low pulse pressure |
ORPHA:86816 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Streak ovary, Obesity, Cryptorchidism |
OMIM:194072 |
Familial Chylomicronemia Syndrome |
|
Recurrent pancreatitis, Decreased body weight, Jaundice, Hepatosplenomegaly, Hepatic steatosis, F... |
ORPHA:444490 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatic steatosis, Lethargy, Decreased liver function, Hepatomegaly |
OMIM:614922 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Hyperactivity, Obesity, Tall stature |
OMIM:618430 |
Kallmann Syndrome |
|
Anterior hypopituitarism, Decreased testicular size, Hypothalamic gonadotropin-releasing hormone ... |
ORPHA:478 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Dementia, Overweight, Dysphagia, Orthostatic hypotension, Mental deterioration, Obesity, Memory i... |
ORPHA:2822 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Hypertrophic cardiomyopathy, Achilles tendon contracture, Obesity, Heart murmur |
OMIM:615418 |
Angelman Syndrome |
|
Hypopigmentation of the skin, Hyperactivity, Fair hair, Blue irides, Obesity |
OMIM:105830 |
8P23.1 Microdeletion Syndrome |
|
Weight loss, Congenital diaphragmatic hernia, Hypospadias, Hypertrophic cardiomyopathy, Attention... |
ORPHA:251071 |
Nestor-Guillermo Progeria Syndrome |
|
Pulmonary arterial hypertension, Flexion contracture, Right bundle branch block, Sinus tachycardi... |
OMIM:614008 |
Idiopathic Intracranial Hypertension |
|
Lethargy, Obesity |
ORPHA:238624 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Weight loss, Increased circulating renin l... |
ORPHA:171876 |
Aicardi-Goutieres Syndrome 9 |
|
Hypothyroidism, Hepatic fibrosis, Weight loss, Elevated hepatic transaminase, Left ventricular hy... |
OMIM:619487 |
Carpenter Syndrome |
|
Polysplenia, Obesity, Umbilical hernia |
ORPHA:65759 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Elevated circulating alanine aminotransferase concentration, Portal fibrosis, Hepatic steatosis, ... |
OMIM:614300 |
Alström Syndrome |
|
Dorsocervical fat pad, Glomerulonephritis, Decreased circulating T4 concentration, Abnormal coron... |
ORPHA:64 |
2Q37 Microdeletion Syndrome |
|
Nephroblastoma, Multicystic kidney dysplasia, Congenital diaphragmatic hernia, Attention deficit ... |
ORPHA:1001 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Elevated circulating thyroid-stimulating hormone concentration, Large for gestational age, Decrea... |
ORPHA:226313 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Obesity |
OMIM:619854 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Jaundice, Hepatomegaly, Exocrine pancreatic insufficiency, Anemia of inadequate production, Splen... |
OMIM:612714 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Glycosuria, Truncal ataxia, Increased intramyocellular lipid droplets, Ataxia, Failure to thrive,... |
OMIM:220110 |
Down Syndrome |
|
Hypothyroidism, Obesity, Sparse hair, Type II diabetes mellitus |
ORPHA:870 |
Gracile Syndrome |
|
Hepatic steatosis, Cirrhosis, Cholestasis, Elevated hepatic iron concentration |
ORPHA:53693 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Cognitive impairment, Wolff-Parkinson-White syndrome, Hypertension, Inguinal hernia, Shortened PR... |
OMIM:614947 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Inguinal hernia, Overgrowth, Large for gestational age, Umbilical hernia |
OMIM:618272 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Transient neonatal diabetes mellitus, Maternal diabetes |
OMIM:610582 |
Smith-Magenis Syndrome |
|
Head-banging, Delayed speech and language development, Abnormality of the thyroid gland, Hypercho... |
OMIM:182290 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Congenital diaphragmatic hernia, Failure to thrive, Attention defic... |
ORPHA:261197 |
Joubert Syndrome 8 |
|
Ataxia, Prolonged neonatal jaundice, Obesity, Hepatomegaly |
OMIM:612291 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Aggressive behavior, Echolalia, Self-injurious behavior, Delayed speech and language development,... |
OMIM:300860 |
Leishmaniasis |
|
Leukopenia, Anemia, Abnormal macrophage morphology, Pancytopenia, Lymphadenopathy, Hepatomegaly, ... |
ORPHA:507 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Hepatic failure, Microvesicular hepatic steatosis, Elevated hepatic transaminase, Hypoglycemia |
OMIM:611126 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Exocrine pancreatic insufficiency, Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:609812 |
Megalencephaly |
|
Macroorchidism, Truncal obesity |
ORPHA:2477 |
Bloom Syndrome |
|
Small for gestational age, Insulin resistance, Adipose tissue loss, Diabetes mellitus, Abdominal ... |
ORPHA:125 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Obesity, Stage 1 chronic kidney disease |
OMIM:618821 |
Osteopetrosis, Autosomal Recessive 4 |
|
Anemia, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Splenomegaly |
OMIM:611490 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Weight loss, Jaundice, Nonketotic hypoglycemia, Elevated hepatic transaminase, Ataxia, Acute panc... |
ORPHA:20 |
Cohen Syndrome |
|
Abnormality of skin pigmentation, Long eyelashes, Obesity, Abnormality of retinal pigmentation, D... |
ORPHA:193 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Pelvic mass, Weight loss, Neoplasm of the liver, Abnormality of the peritoneum, Hypoglycemia, Hyp... |
ORPHA:2126 |
Necrotizing Enterocolitis |
|
Abnormal glucose homeostasis, Small for gestational age, Peritonitis, Hyperglycemia, Ascites, Let... |
ORPHA:391673 |
Liver Failure, Infantile, Transient |
|
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, Ja... |
OMIM:613070 |
Pearson Syndrome |
|
Hypothyroidism, Hepatic failure, Abnormality of the liver, Decreased response to growth hormone s... |
ORPHA:699 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis |
OMIM:618042 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Abnormality of skin pigmentation, Obesity |
ORPHA:2180 |
Familial Cold Urticaria |
|
Polydipsia |
ORPHA:47045 |
Wolman Disease |
|
Anemia, Bone-marrow foam cells, Hepatomegaly, Ascites, Splenomegaly |
ORPHA:75233 |
Primary Myelofibrosis |
|
Anemia, Extramedullary hematopoiesis, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Lymphaden... |
ORPHA:824 |
White-Sutton Syndrome |
|
Hyperactivity, Congenital diaphragmatic hernia, Failure to thrive, Duplicated collecting system, ... |
OMIM:616364 |
Hermansky-Pudlak Syndrome 3 |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:614072 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
B lymphocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hemophagocytosis, Bone marrow hy... |
OMIM:301078 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Lymphadenopathy, Abnormal neutrophil count, Bone marrow hypocellularity, Hepatomegaly, Myeloproli... |
ORPHA:3226 |
Meningioma |
|
Enlarged pituitary gland, Decreased circulating follicle stimulating hormone concentration, Incre... |
ORPHA:2495 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Fulminant hepatitis, Lymphocytosis, Pancytopenia, Lymphadenopathy, Thrombocytopenia, Hemophagocyt... |
OMIM:308240 |
Autoimmune Hepatitis |
|
Cirrhosis, Fulminant hepatitis, Sclerosing cholangitis, Diffuse hepatic steatosis, Elevated hepat... |
ORPHA:2137 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyserythropoietic anemia, Po... |
OMIM:224120 |
Immunodeficiency 32B |
|
Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Hepatomegaly, Impaired oxidative burst, Thromb... |
OMIM:226990 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Hepatic steatosis, Waddling gait |
ORPHA:52430 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... |
OMIM:614924 |
Ataxia-Oculomotor Apraxia 4 |
|
Obesity, Hypercholesterolemia |
OMIM:616267 |
Senior-Boichis Syndrome |
|
Abnormal renal insterstitial morphology, Stage 5 chronic kidney disease, Renal corticomedullary c... |
ORPHA:84081 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Jaundice, Splenomegaly, Hepatomegaly, Intrahepatic cholestasis |
OMIM:235555 |
Oculocutaneous Albinism Type 2 |
|
Hypopigmentation of the skin, Iris transillumination defect, White eyelashes, Iris hypopigmentati... |
ORPHA:79432 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased circulating follicle stimulating hormone concentration, Anterior pituitary hypoplasia, ... |
ORPHA:226307 |
Lymphoproliferative Syndrome 1 |
|
Leukopenia, Anemia, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymph... |
OMIM:613011 |
Fructose Intolerance, Hereditary |
|
Cirrhosis, Glycosuria, Jaundice, Elevated hepatic transaminase, Hepatic steatosis, Failure to thr... |
OMIM:229600 |
Shox-Related Short Stature |
|
Obesity |
ORPHA:314795 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Pancreatic hypoplasia, Lower-limb joint contracture, Reduced pancreatic beta cells, Neonatal insu... |
ORPHA:99885 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Heinz bodies, Jaundice, Fava bean-induced hemolytic anemia, Reticulocytosis, Poikilocytosis, Anis... |
OMIM:300908 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Chronic noninfectious lymphadenopathy, Increased B cell count, Coombs-positive hemolytic anemia, ... |
OMIM:603909 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Flexion contracture, Choreoathetosis, Elevated hepatic transaminase, Increased intramyocellular l... |
ORPHA:17 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally low T cell receptor excis... |
OMIM:602450 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyperaldosteronism, Failure to thrive, Hyperactive renin-angiotensin system, Increased circulatin... |
OMIM:214700 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Hypothyroidism, Aplasia/Hypoplasia of the pancreas, Abnormality of endocrine pancreas physiology,... |
ORPHA:93111 |
Immunodeficiency 47 |
|
Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Cirrhosis, Elevate... |
OMIM:300972 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Impaired renal concentrating ability, Hyperaldosteronism, Renal salt wasting, Hypernatriuria, Hyp... |
OMIM:602522 |
Sickle Cell Disease |
|
Cholelithiasis, Splenomegaly, Hemolytic anemia, Target cells, Jaundice, Splenic infarction, Leuko... |
OMIM:603903 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Failure to thrive, Hypoglycemia, Bile duct proliferation, Decrease... |
OMIM:618329 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Camptodactyly of finger, Hypothyroidism, Camptodactyly, Dilated cardiomyopathy, Noncompaction car... |
OMIM:607872 |
Steinert Myotonic Dystrophy |
|
Secondary hyperparathyroidism, Non-medullary thyroid carcinoma, Abnormality of thyroid physiology... |
ORPHA:273 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Alopecia, Supernumerary nipple, Truncal obesity |
ORPHA:3224 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Elevated hepatic transaminase, Failure to thrive, Hypoglycemia, Hyperglycemia, Acute hepatic failure |
OMIM:615453 |
Cohen Syndrome |
|
Childhood-onset truncal obesity, Decreased response to growth hormone stimulation test, Small for... |
OMIM:216550 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Microvesicular hepatic steatosis, Periportal fibrosis, Hyperglycemia, Elevated hepatic transamina... |
OMIM:124000 |
Mitchell-Riley Syndrome |
|
Pancreatic hypoplasia, Absent gallbladder, Biliary atresia, Acholic stools, Diabetes mellitus, Ch... |
OMIM:615710 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic... |
OMIM:211600 |
Isolated Sedoheptulokinase Deficiency |
|
Flexion contracture, Hepatitis, Inguinal hernia, Postprandial hyperglycemia, Cholestasis, Cholest... |
ORPHA:440713 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Vesicoureteral reflux, Hypoplasia of penis, Aortic regurgitation, Inguinal hernia, Failure to thr... |
ORPHA:96147 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Adrenal gland agenesis |
OMIM:611812 |
Gamma-Heavy Chain Disease |
|
Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, ... |
ORPHA:100026 |
Squalene Synthase Deficiency |
|
Abnormality of hair pigmentation, Hypocholesterolemia, Bilateral cryptorchidism, Failure to thriv... |
OMIM:618156 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Small for gestational age, Large for gestational age, Overgrowth, Omphalocele, Umbilical hernia |
ORPHA:254534 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Increased body mass index, Abnormality of neuronal migration, Microphallus, Small for gestational... |
OMIM:300957 |
Carney Complex |
|
Precocious puberty, Neoplasm of the pancreas, Spotty hyperpigmentation, Hirsutism, Multiple cafe-... |
ORPHA:1359 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Inability to walk, Ataxia, Hepatomegaly, Unsteady gait, Obesity |
OMIM:618443 |
Kohlschutter-Tonz Syndrome-Like |
|
Enamel hypoplasia, Decreased body weight, Recurrent urinary tract infections, Agitation, Overweig... |
OMIM:619229 |
Ulnar-Mammary Syndrome |
|
Hypoplastic toenails, Obesity, Breast aplasia, Abnormal fingernail morphology, Delayed puberty, C... |
ORPHA:3138 |
Dilated Cardiomyopathy With Ataxia |
|
Hypothyroidism, Microvesicular hepatic steatosis, Elevated hepatic transaminase, Neonatal hypogly... |
ORPHA:66634 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
High urinary gonadotropin level, Hyperinsulinemia, Renal hypoplasia/aplasia, Type II diabetes mel... |
ORPHA:99413 |
Mosaic Monosomy X |
|
High urinary gonadotropin level, Hyperinsulinemia, Renal hypoplasia/aplasia, Type II diabetes mel... |
ORPHA:99228 |
Monosomy X |
|
High urinary gonadotropin level, Hyperinsulinemia, Renal hypoplasia/aplasia, Type II diabetes mel... |
ORPHA:99226 |
Turner Syndrome |
|
High urinary gonadotropin level, Hyperinsulinemia, Renal hypoplasia/aplasia, Type II diabetes mel... |
ORPHA:881 |
Carpenter Syndrome 1 |
|
Precocious puberty, Joint contracture of the hand, Hydroureter, Camptodactyly, Omphalocele, Obesi... |
OMIM:201000 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Decreased circulating renin level, Glucocortocoid-insensitive primary hyperaldosteronism, Neoplas... |
ORPHA:231625 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:85414 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Anemia, Hemophagocytosis, Splenomegaly, Pancytopenia |
OMIM:618398 |
Chylomicron Retention Disease |
|
Hepatic steatosis, Failure to thrive, Increased hepatocellular lipid droplets, Elevated hepatic t... |
ORPHA:71 |
Keppen-Lubinsky Syndrome |
|
Flexion contracture, Failure to thrive, Decreased serum leptin, Generalized lipodystrophy, Lack o... |
OMIM:614098 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Aplasia/Hypoplasia of the eyebrow, Precocious puberty, Fine hair, Hypopigmented skin patches, Mul... |
ORPHA:2637 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Enuresis nocturna, Obesity, Attention deficit hyperactivity disorder |
OMIM:619680 |
Nephronophthisis 3 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Ne... |
OMIM:604387 |
Oculocutaneous Albinism Type 1B |
|
Hypopigmentation of the skin, Melanocytic nevus, Albinism, Iris hypopigmentation, Abnormality of ... |
ORPHA:79434 |
Immunodeficiency 97 With Autoinflammation |
|
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... |
OMIM:619802 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Splenomegaly |
ORPHA:90037 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Glycosuria, Elevated hepatic transaminase, Large for gestational age, Diabetes mellitus, Hypoglyc... |
OMIM:616026 |
Abetalipoproteinemia |
|
Gait ataxia, Hypothyroidism, Hepatic fibrosis, Cirrhosis, Elevated hepatic transaminase, Ataxia, ... |
ORPHA:14 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Cirrhosis, Jaundice, Acholic stools, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly... |
OMIM:607765 |
Budd-Chiari Syndrome |
|
Cirrhosis, Jaundice, Cholecystitis, Hepatomegaly, Portal hypertension, Ascites, Peritonitis, Sple... |
ORPHA:131 |
Woodhouse-Sakati Syndrome |
|
Abnormal T-wave, Hypothyroidism, Hyperinsulinemia, Decreased response to growth hormone stimulati... |
ORPHA:3464 |
Dehydrated Hereditary Stomatocytosis |
|
Intermittent jaundice, Increased mean corpuscular hemoglobin concentration, Congenital hemolytic ... |
ORPHA:3202 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Precocious puberty, Hepatosplenomegaly, Cholecystitis, Hypoglycemia, Hepatomegaly, Obesity, Chole... |
OMIM:301066 |
Omenn Syndrome |
|
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Lymphadenopathy, E... |
OMIM:603554 |
Tako-Tsubo Cardiomyopathy |
|
Hypotension, Ventricular arrhythmia, Cardiogenic shock, Angina pectoris, Palpitations, Prolonged ... |
ORPHA:66529 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Cirrhosis, Decreased liver function, Small for gestational age, Elevated hepatic transaminase, He... |
OMIM:613658 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Cirrhosis, Hepatitis, Jaundice, Acholic stools, Hepatic bridging fibrosis, Intrahepatic cholestas... |
OMIM:613812 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Acute myelomonocytic leukemia, Lymphocytosis, Pancytopenia, Bone marrow h... |
ORPHA:86843 |
Distal Renal Tubular Acidosis |
|
Aminoaciduria, Proximal tubulopathy, Hypocitraturia, Hypermagnesiuria, Hyperphosphaturia, Hyperca... |
ORPHA:18 |
Nephronophthisis 4 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Ne... |
OMIM:606966 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Lymphadenitis, Hemolytic anemia, Lymphopenia, Hepatosplenomegaly, Acute pancreatitis, Lymphadenop... |
OMIM:618935 |
Ectopic Aldosterone-Producing Tumor |
|
Decreased circulating renin level, Glucocortocoid-insensitive primary hyperaldosteronism, Ovarian... |
ORPHA:231632 |
Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Pancreatitis, Hepatomegaly |
OMIM:207750 |
D-Bifunctional Protein Deficiency |
|
Very long chain fatty acid accumulation, Elevated hepatic transaminase, Primary adrenal insuffici... |
OMIM:261515 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Nodular regenerative hyperplasia of liver, Microvesicular hepatic steatosis, Inability to walk, S... |
ORPHA:404454 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Hepatomegaly |
OMIM:619183 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Erythroid hy... |
OMIM:613673 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Inability to walk, Truncal ataxia, Elevated hepatic transaminase, Ataxia, Hepatic steatosis, Diff... |
OMIM:615356 |
Chops Syndrome |
|
Curly hair, Synophrys, Long eyelashes, Obesity, Cryptorchidism, Coarse hair, Thick eyebrow, Thick... |
OMIM:616368 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Flexion contracture, Insulin resistance |
ORPHA:90153 |
Kleefstra Syndrome |
|
Vesicoureteral reflux, Hernia, Hypoplasia of penis, Renal cyst, Hypospadias, Arrhythmia, Renal in... |
ORPHA:261494 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Cirrhosis, Ketotic hypoglycemia, Elevated hepatic transaminase, Hepatocellular ... |
ORPHA:79240 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Cirrhosis, Abnormality of the liver, Increased HbA2 hemoglobin, Jaundice, Extrame... |
ORPHA:231222 |
Thyrotoxic Periodic Paralysis |
|
Impaired myocardial contractility, Thyrotoxicosis with toxic single thyroid nodule, Hyperthyroidi... |
ORPHA:79102 |
Autoimmune Hemolytic Anemia |
|
Splenomegaly, Abnormal leukocyte morphology, Hemolytic anemia |
ORPHA:98375 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypothyroidism, Enlarged kidney, Thyroiditis, Hepatocellular carcinoma, Hepatic steatosis, Failur... |
ORPHA:79259 |
Senior-Loken Syndrome 3 |
|
Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Nephronophthisis, Enuresi... |
OMIM:606995 |
Distal Monosomy 12Q |
|
Vesicoureteral reflux, Hyperactivity, Hydronephrosis, Elbow flexion contracture, Polycystic kidne... |
ORPHA:96149 |
Teratoma, Pineal |
|
Polyuria, Polydipsia |
OMIM:273120 |
Hypokalemic Periodic Paralysis |
|
Postprandial hyperglycemia, Increased intramyocellular lipid droplets, Adrenocortical adenoma |
ORPHA:681 |
Visceral Steatosis, Congenital |
|
Hepatic steatosis, Jaundice, Lethargy, Hypoglycemia |
OMIM:228100 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated circulating alanine aminotransferase concentration, Increased hepatic echogenicity, Elev... |
OMIM:619525 |
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies |
|
Obesity |
OMIM:619056 |
Hereditary Elliptocytosis |
|
Stomatocytosis, Splenomegaly, Congenital hemolytic anemia, Hemolytic anemia, Elliptocytosis, Jaun... |
ORPHA:288 |
White-Sutton Syndrome |
|
Hyperactivity, Ventral hernia, Inguinal hernia, Congenital diaphragmatic hernia, Duplicated colle... |
ORPHA:468678 |
Gaisböck Syndrome |
|
Elevated diastolic blood pressure, Hypovolemia, Increased circulating renin level, Hypernatriuria... |
ORPHA:90041 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hypoketotic hypoglycemia, Hepatic failure, Hepatic steatosis, Hepatic calcification, Hepatomegaly... |
ORPHA:228308 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Obesity, Neonatal hypoglycemia |
OMIM:608624 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Dentinogenesis imperfecta, Precocious puberty, Moderate albuminuria, Type I diabetes mellitus, Ob... |
OMIM:619269 |
Mucopolysaccharidosis-Plus Syndrome |
|
Splenomegaly, Flexion contracture, Inability to walk, Enlarged kidney, Hepatomegaly, Macrovesicul... |
OMIM:617303 |
Waardenburg Syndrome, Type 4C |
|
Premature graying of hair, Hypogonadism, White eyelashes, White eyebrow, Hypopigmented skin patch... |
OMIM:613266 |
Immunodeficiency 36 With Lymphoproliferation |
|
Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Enla... |
OMIM:616005 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypothyroidism, Left ventricular hypertrophy, Hypopituitarism, Hyperglycemia, Alcoholism |
ORPHA:90065 |
Prader-Willi Syndrome Due To Translocation |
|
Hypopigmentation of the skin, Anterior pituitary hypoplasia, Decreased response to growth hormone... |
ORPHA:177907 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Aminoaciduria, Ketonuria, Large for gestational age, Failure to thrive, Umbilical hernia, Polymic... |
OMIM:614520 |
Arima Syndrome |
|
Renal tubular atrophy, Gray matter heterotopia, Stage 5 chronic kidney disease, Renal sodium wast... |
OMIM:243910 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Precocious puberty, Sparse scalp hair, Cafe-au-lait spot, Type II diabetes mellitus, Areas of hyp... |
OMIM:210720 |
Sweet Syndrome |
|
Elevated circulating C-reactive protein concentration, Abnormal circulating interleukin concentra... |
ORPHA:3243 |
Retinal Dystrophy With Or Without Macular Staphyloma |
|
Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Truncal obesity |
OMIM:617547 |
Bardet-Biedl Syndrome 12 |
|
Cognitive impairment, Hypogonadism, Hydroureter, Cystic renal dysplasia, Obesity, Hydronephrosis |
OMIM:615989 |
Erdheim-Chester Disease |
|
Diabetes insipidus, Weight loss, Dysuria, Congestive heart failure, Hypogonadotropic hypogonadism... |
ORPHA:35687 |
White-Kernohan Syndrome |
|
Hypothyroidism, Horizontal eyebrow, Synophrys, Long eyelashes, Obesity, Attention deficit hyperac... |
OMIM:619426 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, Ci... |
OMIM:605814 |
Liver Disease, Severe Congenital |
|
Peritonitis, Elevated hepatic transaminase, Portal inflammation, Hyperinsulinemic hypoglycemia, H... |
OMIM:619991 |
Momo Syndrome |
|
Overgrowth, Obesity, Hyperconvex nail |
OMIM:157980 |
Nephronophthisis 11 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubular base... |
OMIM:613550 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Type II diabetes mellitus, Dilated cardiomyopathy, Aortic regurgitation, Overweight, Renovascular... |
ORPHA:401923 |
Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Increased circulating prolactin concentration, Hypogonadism, Hyperpitui... |
ORPHA:91351 |
Ermine Phenotype |
|
Irregular hyperpigmentation, Ocular albinism, Iris hypopigmentation, Hypopigmented skin patches, ... |
ORPHA:999 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomeg... |
OMIM:616100 |
Beckwith-Wiedemann Syndrome |
|
Hypothyroidism, Neonatal hypoglycemia, Hepatoblastoma, Hypoglycemia, Hepatomegaly, Splenomegaly, ... |
ORPHA:116 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hip contracture, Inability to walk, Elbow flexion contracture, Unsteady gait, Obesity |
OMIM:618493 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Pancreatic cysts, Asplenia, Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Enlarged kidney, Poly... |
OMIM:208540 |
Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Hypopigmentation ... |
ORPHA:79431 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Hepatic failure, Flexion contracture, Truncal ataxia, Ataxia, Limb joint contracture, Micronodula... |
OMIM:301072 |
Osteootohepatoenteric Syndrome |
|
Hepatic fibrosis, Microvesicular hepatic steatosis, Weight loss, Portal fibrosis, Failure to thri... |
OMIM:619377 |
Hutchinson-Gilford Progeria Syndrome |
|
Female hypogonadism, Cyanosis, Pubertal developmental failure in females, Weight loss, Shuffling ... |
ORPHA:740 |
Helix Syndrome |
|
Hyperparathyroidism, Polyuria, Hypocalciuria, Renal insufficiency, Nephrolithiasis, Polydipsia |
OMIM:617671 |
Albinism, Oculocutaneous, Type Ia |
|
Ocular albinism, Albinism, Hypopigmentation of hair, White hair, Blue irides, Absent skin pigment... |
OMIM:203100 |
Gaucher Disease, Type I |
|
Anemia, Hypersplenism, Pancytopenia, Hepatomegaly, Thrombocytopenia, Splenomegaly |
OMIM:230800 |
Sotos Syndrome |
|
Abnormality of the kidney, Neonatal hypoglycemia, Overgrowth, Attention deficit hyperactivity dis... |
OMIM:117550 |
Diamond-Blackfan Anemia 21 |
|
Horizontal eyebrow, Synophrys, Widow's peak, Coarse hair, Obesity |
OMIM:620072 |
Senior-Loken Syndrome 1 |
|
Impaired renal concentrating ability, Stage 5 chronic kidney disease, Thickening of the tubular b... |
OMIM:266900 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Hypothyroidism, Bilateral cryptorchidism, Decreased serum testosterone concentration, Increased c... |
ORPHA:1772 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Microvesicular hepatic steatosis, Small for gestational age, Truncal ataxia, Left ventricular hyp... |
OMIM:220111 |
Kleefstra Syndrome 1 |
|
Synophrys, Obesity, Cryptorchidism |
OMIM:610253 |
Bardet-Biedl Syndrome 20 |
|
Male hypogonadism, Bilateral cryptorchidism, Obesity, Hypercholesterolemia |
OMIM:619471 |
Immunodeficiency 40 |
|
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... |
OMIM:616433 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Obesity, Waddling gait |
ORPHA:174 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Failure to thrive, Microvesicular hepatic steatosis |
OMIM:616672 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Splenomegaly, Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia |
ORPHA:90033 |
Toxic Epidermal Necrolysis |
|
Sudden cardiac death, Weight loss, Dysuria, Gastrointestinal hemorrhage, Dysphagia, Renal insuffi... |
ORPHA:537 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Hyperbili... |
ORPHA:542323 |
Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Abnormality of skin pigmentation, Premature graying of hair, Synophr... |
ORPHA:3440 |
Desbuquois Dysplasia 1 |
|
Obesity, Waddling gait |
OMIM:251450 |
Retinitis Pigmentosa 74 |
|
Obesity |
OMIM:616562 |
Thalidomide Embryopathy |
|
Insulin resistance |
ORPHA:3312 |
Lysosomal Acid Lipase Deficiency |
|
Hepatic fibrosis, Hepatic failure, Microvesicular hepatic steatosis, Weight loss, Hypersplenism, ... |
ORPHA:275761 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Intrahepatic biliary atresia, Hepatic fibrosis, Sclerosing cholangitis, Jaundice, Bile duct proli... |
OMIM:607626 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Hyperactivity, Synophrys, Hirsutism, Attention deficit hyperactivity disorder, Cryptorchidism, Ob... |
OMIM:616078 |
Williams-Beuren Syndrome |
|
Hypothyroidism, Flexion contracture, Supravalvular aortic stenosis, Glucose intolerance, Vesicour... |
OMIM:194050 |
Caroli Disease |
|
Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Periportal fibrosis, Liver abscess, Jaundice, Cho... |
ORPHA:53035 |
1P21.3 Microdeletion Syndrome |
|
Aggressive behavior, Self-injurious behavior, Shyness, Delayed speech and language development, O... |
ORPHA:293948 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
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Knee flexion contracture, Birth length greater than 97th percentile, Cirrhosis, Flexion contractu... |
OMIM:300868 |
Bloom Syndrome |
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Small for gestational age, Type II diabetes mellitus, Hepatic steatosis |
OMIM:210900 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
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Synophrys, Obesity, Hirsutism, Attention deficit hyperactivity disorder, Truncal obesity, Dysphag... |
ORPHA:466950 |
Achondroplasia |
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Obesity, Hypoxemia |
ORPHA:15 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
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Hepatic failure, Microvesicular hepatic steatosis, Jaundice, Elevated hepatic transaminase, Ataxi... |
OMIM:203700 |
Von Hippel-Lindau Disease |
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Pancreatic cysts, Pancreatic endocrine tumor, Elevated circulating catecholamine level, Neoplasm ... |
ORPHA:892 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
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Failure to thrive, Hyperaldosteronism |
OMIM:613090 |
Partial Deletion Of The Short Arm Of Chromosome 7 |
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Synophrys, Bilateral cryptorchidism, Obesity, Abnormality of the frontal hairline, Dysphagia, Thi... |
ORPHA:261911 |
Hyperlipoproteinemia, Type I |
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Jaundice, Pancreatitis, Splenomegaly, Hepatosplenomegaly |
OMIM:238600 |
Hereditary Spherocytosis |
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Increased mean corpuscular hemoglobin concentration, Splenomegaly, Spontaneous hemolytic crises, ... |
ORPHA:822 |
Xylt1-Cdg |
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Synophrys, Hirsutism, Truncal obesity |
ORPHA:370930 |
Mandibuloacral Dysplasia Progeroid Syndrome |
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Flexion contracture, Glucose intolerance, Elevated hepatic transaminase, Left ventricular hypertr... |
OMIM:619127 |
Gray Platelet Syndrome |
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Thrombocytopenia, Splenomegaly, Abnormal number of alpha granules |
OMIM:139090 |
Xq21 Microdeletion Syndrome |
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Decreased response to growth hormone stimulation test, Anterior hypopituitarism, Anterior pituita... |
ORPHA:1435 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Hyperactivity, Decreased body weight, Tip-toe gait, Falls, Jaundice, Elevated hepatic transaminas... |
OMIM:619475 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
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Obesity, Tip-toe gait, Spastic gait |
OMIM:617296 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Vesicoureteral reflux, Hyperactivity, Social and occupational deterioration, Keloids, Recurrent u... |
ORPHA:353281 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Hypothyroidism, Hypoplastic toenails, Curly hair, Decreased response to growth hormone stimulatio... |
ORPHA:444077 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
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Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Dysphagia |
ORPHA:98795 |
Brittle Cornea Syndrome 1 |
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Red hair, Disproportionate tall stature |
OMIM:229200 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
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Obesity |
OMIM:618395 |
Hermansky-Pudlak Syndrome 1 |
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Hypopigmentation of the skin, Melanocytic nevus, Ocular albinism, Albinism, Freckles in sun-expos... |
OMIM:203300 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
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Precocious puberty, Hypertriglyceridemia, Obesity, Hypoparathyroidism |
ORPHA:369837 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
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Thick eyebrow, Failure to thrive, Obesity, Abnormality of the pineal gland |
ORPHA:369950 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
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Decreased circulating renin level, Primary hyperaldosteronism |
OMIM:615474 |
Autosomal Recessive Polycystic Kidney Disease |
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Cognitive impairment, Recurrent urinary tract infections, Acute kidney injury, Enlarged kidney, P... |
ORPHA:731 |
Digeorge Syndrome |
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Hypothyroidism, Femoral hernia, Hypoplasia of the thymus, Hepatic steatosis, Inguinal hernia, Par... |
OMIM:188400 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
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Increased body weight |
ORPHA:64745 |
Microcephalic Primordial Dwarfism, Dauber Type |
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Obesity, Bilateral breast hypoplasia |
ORPHA:319675 |
Pyruvate Carboxylase Deficiency |
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Tip-toe gait, Ataxia, Failure to thrive, Hypoglycemia, Hepatomegaly, Hyperglycemia |
ORPHA:3008 |
22Q11.2 Deletion Syndrome |
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Vesicoureteral reflux, Hypothyroidism, Hypoplasia of the thymus, Hyperthyroidism, Polycystic kidn... |
ORPHA:567 |
Kabuki Syndrome |
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Precocious puberty, Crossed fused renal ectopia, Renal hypoplasia/aplasia, Hypoplasia of penis, C... |
ORPHA:2322 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
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Iris hypopigmentation, Hypopigmented skin patches, Hypopigmentation of hair, Freckling, Multiple ... |
ORPHA:3214 |
Wiedemann-Rautenstrauch Syndrome |
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Camptodactyly of finger, Increased serum estradiol, Increased circulating prolactin concentration... |
ORPHA:3455 |
Heart Defects, Congenital, And Other Congenital Anomalies |
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Absent gallbladder, Pancreatic hypoplasia, Biliary atresia, Glycosuria, Inguinal hernia, Failure ... |
OMIM:600001 |
Tenorio Syndrome |
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Hypoglycemia, Gait disturbance, Hypoinsulinemia |
OMIM:616260 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
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Vesicoureteral reflux, Heart murmur, Inguinal hernia, Pelvic kidney, Obesity, Micropenis, Hydrone... |
OMIM:618653 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
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Hypogonadism, Jaundice, Elevated hepatic transaminase, Diabetes mellitus, Obesity |
OMIM:614231 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
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Hypopigmentation of hair, Hypopigmentation of the skin, Cafe-au-lait spot |
OMIM:618541 |
Muenke Syndrome |
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Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches |
ORPHA:53271 |
Hydrolethalus Syndrome 1 |
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Adrenal gland dysgenesis, Stillbirth |
OMIM:236680 |
Bartter Syndrome, Type 3 |
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Hyperaldosteronism, Hyperactive renin-angiotensin system, Increased circulating renin level |
OMIM:607364 |
Williams Syndrome |
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Sudden cardiac death, Hypothyroidism, Precocious puberty, Abnormality of the bladder, Supravalvul... |
ORPHA:904 |
Cole Disease |
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Hyperglycemia |
OMIM:615522 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
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Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Hepatomegaly, Impaired oxidative b... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
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Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Hepatomegaly, Impaired oxidative b... |
OMIM:233710 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
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Hepatic steatosis, Attention deficit hyperactivity disorder, Joint contracture of the 5th finger |
OMIM:619934 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
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Stomatocytosis, Splenomegaly, Hemolytic anemia, Thrombocytopenia, Increased mean platelet volume |
OMIM:153670 |
Monosomy 22Q13.3 |
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Vesicoureteral reflux, Hyperactivity, Renal dysplasia, Recurrent pyelonephritis, Obesity, Umbilic... |
ORPHA:48652 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
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Hepatic steatosis, Hypoplasia of the ovary, Flexion contracture, Abdominal obesity |
OMIM:619321 |
Aicardi-Goutieres Syndrome 7 |
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Hypothyroidism, Weight loss, Hepatitis, Hepatic steatosis, Hepatomegaly, Splenomegaly |
OMIM:615846 |
Immunodeficiency 87 And Autoimmunity |
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Elevated circulating alanine aminotransferase concentration, Hepatic failure, Small for gestation... |
OMIM:619573 |
3Q29 Microduplication Syndrome |
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Camptodactyly of toe, Obesity |
ORPHA:251038 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
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Jaundice, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic steatosis, Cholestasis, Hepa... |
ORPHA:247598 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Flexion contracture, Reduced subcutaneous adipose tissue, Elbow flexion contracture, Thyroid hypo... |
OMIM:619503 |
Hyperlipoproteinemia, Type Id |
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Recurrent pancreatitis, Pancreatitis, Splenomegaly, Hepatomegaly |
OMIM:615947 |
Pmm2-Cdg |
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Hepatic fibrosis, Hyperinsulinemia, Elevated circulating thyroid-stimulating hormone concentratio... |
ORPHA:79318 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
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Dilatation of renal calices, Attention deficit hyperactivity disorder, Pelvic kidney, Dysphagia, ... |
ORPHA:466943 |
Syndromic Diarrhea |
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Hypothyroidism, Trichorrhexis nodosa, Cafe-au-lait spot, Generalized hypopigmentation, Brittle ha... |
ORPHA:84064 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
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Pancreatic cysts, Hepatic fibrosis, Periportal fibrosis, Enlarged kidney, Hepatomegaly, Hepatic c... |
OMIM:263200 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
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Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Hepatomegaly, Impaired oxidative b... |
OMIM:233690 |
17Q24.2 Microdeletion Syndrome |
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Decreased response to growth hormone stimulation test, Pineal cyst, Synophrys, Truncal obesity, T... |
ORPHA:529962 |
Anterior Cutaneous Nerve Entrapment Syndrome |
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Allodynia, Decreased body weight |
ORPHA:51890 |
Ogden Syndrome |
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Microvesicular hepatic steatosis, Minimal subcutaneous fat, Enlarged kidney, Jaundice, Maternal d... |
OMIM:300855 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
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Frontal hirsutism, Failure to thrive, Pseudohypoparathyroidism, Obesity, Sparse hair |
OMIM:617157 |
Andersen-Tawil Syndrome |
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Hyperaldosteronism |
ORPHA:37553 |
Tetraamelia Syndrome 1 |
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Adrenal gland agenesis |
OMIM:273395 |
Chronic Thromboembolic Pulmonary Hypertension |
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Pulmonary arterial hypertension, Pulmonary embolism, Abnormal T-wave, Right bundle branch block, ... |
ORPHA:70591 |
Witteveen-Kolk Syndrome |
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Hyperactivity, Bilateral polymicrogyria, Decreased response to growth hormone stimulation test, M... |
OMIM:613406 |
Ulnar-Mammary Syndrome |
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Anterior pituitary hypoplasia, Sparse lateral eyebrow, Sparse axillary hair, Hypoplastic nipples,... |
OMIM:181450 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Microvesicular hepatic steatosis, Hepatocellular necrosis, Hepatosplenomegaly, Failure to thrive,... |
OMIM:618278 |
Doors Syndrome |
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Toenail dysplasia, Malalignment of the great toenail, Absent fingernail, Adrenal hyperplasia, Abn... |
ORPHA:79500 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Vesicoureteral reflux, Hyperactivity, Social and occupational deterioration, Keloids, Recurrent u... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Vesicoureteral reflux, Hyperactivity, Social and occupational deterioration, Keloids, Recurrent u... |
ORPHA:353277 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
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Obesity, Abnormality of the nail |
OMIM:250420 |
Bartter Syndrome Type 4 |
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Hyperaldosteronism, Small for gestational age, Increased circulating renin level, Failure to thri... |
ORPHA:89938 |
Gaucher Disease, Type Iiic |
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Cardiomegaly, Splenomegaly, Pancytopenia, Hepatomegaly |
OMIM:231005 |
Oculocerebrorenal Syndrome Of Lowe |
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Hypercholesterolemia, Diabetes insipidus, Hyperaldosteronism, Sparse scalp hair, Generalized hypo... |
ORPHA:534 |
Desbuquois Dysplasia 2 |
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Synophrys, Truncal obesity |
OMIM:615777 |
Rubinstein-Taybi Syndrome 1 |
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Hyperactivity, Premature thelarche, Cafe-au-lait spot, Frontal upsweep of hair, Broad eyebrow, Sm... |
OMIM:180849 |
Smith-Lemli-Opitz Syndrome |
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Hyperactivity, Cirrhosis, Precocious puberty, Hepatic steatosis, Failure to thrive, Hepatomegaly,... |
OMIM:270400 |
X-Linked Lymphoproliferative Disease |
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T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Bone marrow hypocellularity, Cervi... |
ORPHA:2442 |
Perlman Syndrome |
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Nephroblastoma, Renal hamartoma, Large for gestational age, Congenital diaphragmatic hernia, Hypo... |
OMIM:267000 |
Vici Syndrome |
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Hypopigmentation of the skin, Ocular albinism, Albinism, Abnormality of the thymus, Hypopigmentat... |
OMIM:242840 |
Bartter Syndrome, Type 1, Antenatal |
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Hyperaldosteronism, Small for gestational age, Increased circulating renin level, Failure to thri... |
OMIM:601678 |
Aregenerative Anemia |
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Abnormality of interleukin secretion, Bone marrow hypocellularity |
ORPHA:101096 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
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Abnormal eyebrow morphology, Premature graying of hair, Hypogonadism, Hypopigmented skin patches,... |
ORPHA:163746 |
Myhre Syndrome |
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Small for gestational age, Obesity, Fine hair, Cryptorchidism, Thick eyebrow, Sparse hair |
OMIM:139210 |
Hellp Syndrome |
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Hypotension, Cerebral hemorrhage, Acute kidney injury, Hemoglobinuria, Internal hemorrhage, Prote... |
ORPHA:244242 |
6Q Terminal Deletion Syndrome |
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Gray matter heterotopia, Periventricular heterotopia, Abnormality of neuronal migration, Phimosis... |
ORPHA:75857 |
Complex Regional Pain Syndrome |
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Allodynia |
ORPHA:83452 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
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Abnormality of tumor necrosis factor secretion |
ORPHA:85436 |
Lysinuric Protein Intolerance |
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Failure to thrive, Sparse hair, Fine hair, Truncal obesity |
OMIM:222700 |
Primrose Syndrome |
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Sparse body hair, Restlessness, Hypothyroidism, Sparse scalp hair, Synophrys, Bilateral cryptorch... |
OMIM:259050 |
Scorpion Envenomation |
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Glycosuria, Elevated circulating aspartate aminotransferase concentration, Ataxia, Acute pancreat... |
ORPHA:466677 |
Dend Syndrome |
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Hyperglycemia |
ORPHA:79134 |
Hermansky-Pudlak Syndrome |
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Hypopigmentation of the skin, Melanocytic nevus, Weight loss, Ocular albinism, Iris hypopigmentat... |
ORPHA:79430 |
Cornelia De Lange Syndrome |
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Synophrys, Long eyelashes, Thick eyebrow, Generalized hirsutism, Delayed puberty, Truncal obesity... |
ORPHA:199 |
Joubert Syndrome 39 |
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Overweight, Joint contracture of the 5th finger |
OMIM:619562 |
African Trypanosomiasis |
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Alopecia, Weight loss, Abnormality of circulating cortisol level, Abnormality of renin-angiotensi... |
ORPHA:3385 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
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Hyperaldosteronism |
ORPHA:73224 |
Trigeminal Neuralgia |
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Allodynia |
ORPHA:221091 |
Secondary Intestinal Lymphangiectasia |
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Hypocholesterolemia, Secondary hyperaldosteronism |
ORPHA:90363 |
Carpenter Syndrome 2 |
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Sparse eyebrow, Bilateral cryptorchidism, Obesity, Supernumerary nipple, Cryptorchidism, Hypoplas... |
OMIM:614976 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
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Slender build, Allodynia, Cachexia, Weight loss |
OMIM:603041 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
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Vesicoureteral reflux, Hyperactivity, Hypogonadism, Hypospadias, Renal hypoplasia, Obesity, Micro... |
OMIM:309580 |
Brittle Cornea Syndrome |
|
Abnormality of hair pigmentation |
ORPHA:90354 |
Neurotrophic Keratopathy |
|
Allodynia |
ORPHA:137596 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
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Synophrys, Long lower eyelashes, Failure to thrive, Frontal balding, Truncal obesity, Highly arch... |
OMIM:612474 |
Leukocyte Adhesion Deficiency |
|
Peritonitis, Hyperinsulinemic hypoglycemia |
ORPHA:2968 |
Pallister-Killian Syndrome |
|
Sparse eyebrow, Alopecia, Sparse scalp hair, Hypopigmentation of the skin, Hypopigmented streaks,... |
OMIM:601803 |
Homozygous Familial Hypercholesterolemia |
|
Hepatic steatosis |
ORPHA:391665 |