Isolated Anencephaly |
|
Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes |
ORPHA:563609 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Overweight, Obesity, Maturity-onset diabetes of the young |
OMIM:613375 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Anemia, Hepatomegaly |
ORPHA:294 |
Spermatogenic Failure, X-Linked, 1 |
|
Sertoli cell-only phenotype, Obesity |
OMIM:305700 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyperinsulinemic ... |
OMIM:601820 |
Immunodeficiency 42 |
|
Splenomegaly, Hypoplasia of the thymus, Hepatomegaly |
OMIM:616622 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Failure to thrive in infancy, Hepatomegaly |
OMIM:619175 |
Obesity |
|
Increased waist to hip ratio, Obesity |
OMIM:601665 |
Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus |
OMIM:267500 |
Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Adenocarcinoma Of The Esophagus |
|
Obesity, Lymphadenopathy |
ORPHA:99976 |
Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia |
OMIM:256450 |
Proteus-Like Syndrome |
|
Splenomegaly, Abnormality of the parathyroid gland, Thymus hyperplasia, Polycystic ovaries |
ORPHA:2969 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly |
ORPHA:46532 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia |
OMIM:206400 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Bardet-Biedl Syndrome 11 |
|
Hypogonadism, Obesity |
OMIM:615988 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Cryptorchidism, Obesity, Thick eyebrow |
OMIM:309585 |
Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Lymphocytosis, Hepatomegaly |
OMIM:606445 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Obesity And Hypopigmentation |
|
Hyperinsulinemia, Obesity, Overgrowth, Red hair, Hepatic steatosis |
OMIM:620195 |
Hypothyroidism, Central, With Testicular Enlargement |
|
Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra... |
OMIM:300888 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Thymus hyperplasia |
OMIM:619036 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Syndromic X-Linked Intellectual Disability 7 |
|
Cryptorchidism, Hypogonadism, Obesity, Sparse body hair |
ORPHA:85274 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... |
ORPHA:71526 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytosis |
ORPHA:66661 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Failure to thrive, Hepatic steatosis |
OMIM:614480 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Intellectual Developmental Disorder, X-Linked 97 |
|
Synophrys, Obesity |
OMIM:300803 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Failure to thrive, ... |
OMIM:618963 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
Sea-Blue Histiocyte Disease |
|
Splenomegaly, Cirrhosis, Sea-blue histiocytosis, Absent axillary hair, Thrombocytopenia |
OMIM:269600 |
Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Truncal obesity, Obesity, Hypoinsulinemia, Large for gestational age |
OMIM:240900 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Intermittent jaundice |
OMIM:179700 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Obesity, Reduced circulating prolactin concentration |
OMIM:264120 |
Bardet-Biedl Syndrome 10 |
|
Hypogonadism, Obesity |
OMIM:615987 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Hepatomegaly, Large for gestational age |
ORPHA:2432 |
Tyrosinemia Type 1 |
|
Splenomegaly, Hepatocellular carcinoma, Hepatomegaly |
ORPHA:882 |
Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Obesity, Hirsutism |
OMIM:184700 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Failure to thrive in infancy, Small for gestational age, Decreased proportion of CD8-positive T c... |
OMIM:617241 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, T lymphocytopenia, Hypo... |
OMIM:300400 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly |
OMIM:610293 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Obesity, Congenital hypothyroidism |
ORPHA:88643 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Diabetes mellitus, Obesity |
OMIM:608320 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Splenoportal Vascular Anomalies |
|
Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosi... |
OMIM:271500 |
Omenn Syndrome |
|
Hepatomegaly, Alopecia, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, L... |
OMIM:603554 |
Portal Hypertension, Noncirrhotic, 1 |
|
Splenomegaly, Portal hypertension, Hepatomegaly |
OMIM:617068 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Obesity, Tall stature |
OMIM:618406 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Increased circulating free T4 concentration, Diabetes mellitus, Small for gestational age, Elevat... |
OMIM:274300 |
Cortisone Reductase Deficiency 2 |
|
Obesity, Premature pubarche |
OMIM:614662 |
Hepatic Veno-Occlusive Disease |
|
Hepatomegaly, Jaundice, Ascites, Increased body weight |
ORPHA:890 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Cortisone Reductase Deficiency 1 |
|
Precocious puberty, Alopecia, Obesity, Hirsutism |
OMIM:604931 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal... |
OMIM:619755 |
Summitt Syndrome |
|
Obesity |
OMIM:272350 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... |
OMIM:602450 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Type II diabetes mellitus, Childhood-onset truncal obesity, Obesity |
ORPHA:71529 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Truncal obesity, Abdominal obesity, Decreased response to growth hormone stimulation test, Anteri... |
OMIM:618160 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Large for gestational age, Enlarged tonsils, Abnormal circulating insulin concentration, Truncal ... |
ORPHA:293964 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Increased body mass index, Increased T3/T4 ratio, Increased body weight, Congenital hypothyroidis... |
OMIM:614450 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Failure to thrive, Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T... |
OMIM:242700 |
Microduplication Xp11.22P11.23 Syndrome |
|
Precocious puberty, Obesity |
ORPHA:217377 |
Proteus Syndrome |
|
Thymus hyperplasia, Testicular neoplasm, Cachexia, Neoplasm of the thymus, Splenomegaly, Enlarged... |
ORPHA:744 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:616860 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... |
OMIM:609734 |
Leptin Deficiency Or Dysfunction |
|
Hypogonadism, Decreased testicular size, Decreased serum leptin, Obesity |
OMIM:614962 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Bardet-Biedl Syndrome 22 |
|
Hypogonadism, Obesity, Large for gestational age |
OMIM:617119 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... |
OMIM:615954 |
Wilson Disease |
|
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Increased body weight, Weight loss, Anemia, Cirr... |
ORPHA:905 |
Pseudohypoparathyroidism, Type Ib |
|
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Obesity |
OMIM:603233 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Abnormal hair quantity, Obesity, Low posterior hairline, Hypogonadism, Abnormal testis morphology |
ORPHA:2233 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Sparse facial hair, Absent facial hair, Hypergonadotropic hypogonadism, Obesity, Low posterior ha... |
ORPHA:2183 |
Biemond Syndrome Type 2 |
|
Hypogonadism, Hypogonadotropic hypogonadism, Obesity, Delayed puberty |
ORPHA:141333 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
Leptin Receptor Deficiency |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
OMIM:614963 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... |
OMIM:619313 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Obesity |
ORPHA:2206 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... |
OMIM:235700 |
Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Large for gestational age, Splenomegaly, Obesity, Hydrocele testis, Coarse hair, Ov... |
OMIM:605309 |
Immunodeficiency 9 |
|
Failure to thrive, Hypoplasia of the thymus |
OMIM:612782 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis |
OMIM:182900 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Low Phospholipid-Associated Cholelithiasis |
|
Diabetes mellitus, Liver abscess, Cholangitis, Overweight, Intrahepatic cholestasis, Biliary cirr... |
ORPHA:69663 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Increased body weight, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypo... |
ORPHA:276608 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Eunuchoid habitus, Abnormality of the thyroid gland, Obesity, Hypogonadism, Type II diabetes mell... |
ORPHA:2234 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Obesity, Absence of pubertal de... |
OMIM:610628 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:612653 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating... |
ORPHA:99832 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Aplasia of the thymus |
ORPHA:3004 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Alopecia, Diabetes mellitus, Adrenal hyperplasia, Increased body weight, Increased circulating co... |
OMIM:615830 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Elliptocytosis 1 |
|
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis |
OMIM:611804 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:616649 |
Bardet-Biedl Syndrome 8 |
|
Hypogonadism, Obesity |
OMIM:615985 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Cryptorchidism, Synophrys, Increased body weight |
ORPHA:589905 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... |
OMIM:619326 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... |
ORPHA:2235 |
Insulinoma |
|
Abnormality of the pancreatic islet cells, Fasting hyperinsulinemia, Primary hyperparathyroidism,... |
ORPHA:97279 |
Abcd Syndrome |
|
White eyelashes, White eyebrow, Albinism, Large for gestational age, Polycythemia |
OMIM:600501 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Hypogonadism, Obesity |
OMIM:601794 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cryptorchidism, Hypogonadism, Obesity |
ORPHA:363741 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Large for gestational age, Multiple pancreatic... |
ORPHA:79644 |
X-Linked Intellectual Disability, Shashi Type |
|
Macroorchidism, Obesity |
ORPHA:85286 |
Mody |
|
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... |
ORPHA:552 |
Congenital Myopathy 9A |
|
Cryptorchidism, Obesity |
OMIM:618822 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Abnormal erythrocyte enzyme level, Splenomegaly, Hepatocellular adenoma, Cholestasi... |
ORPHA:264580 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Hypoplasia of the thymus... |
OMIM:214110 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Hepatic steatosis, Alopecia, Paradoxical increased cortisol sec... |
ORPHA:189427 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Large for gestational age, Anemia, Bone marrow hypocellularity, Neutropenia, Failure to thrive, T... |
OMIM:614520 |
Syndromic Diarrhea |
|
Hepatomegaly, Hypopigmentation of hair, Brittle hair, Small for gestational age, Increased mean p... |
ORPHA:84064 |
Obesity-Hypoventilation Syndrome |
|
Obesity |
OMIM:257500 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Large for gestational age, Hyperinsulinemia, Increased body weight, Pancreatic isle... |
ORPHA:263455 |
Blue Diaper Syndrome |
|
Decreased circulating T4 concentration, Elevated circulating thyroid-stimulating hormone concentr... |
ORPHA:94086 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Failure to thrive, Intermittent thrombocytopenia, Cryptorchidism, Erythroid hypopla... |
OMIM:612541 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Abnormal hair whorl, Synophrys, Increased body weight, Low posterior hairline, Nail dystrophy, Hi... |
OMIM:300860 |
MĂĽllerian Aplasia And Hyperandrogenism |
|
Thick eyebrow, Frontal balding, Synophrys, Obesity, Facial hirsutism, Increased serum testosteron... |
ORPHA:247768 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Adrenal cortical sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, ... |
OMIM:102700 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperinsulinemia, Obesity, Increased serum leptin |
OMIM:617885 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Splenomegaly, Hepatocellular adenoma, Increased body weight, Polycystic ovaries, He... |
ORPHA:79240 |
Perrault Syndrome 4 |
|
Increased circulating gonadotropin level, Obesity, Disproportionate tall stature, Hypoplasia of t... |
OMIM:615300 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... |
OMIM:243150 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Obesity |
OMIM:600955 |
Acitretin/Etretinate Embryopathy |
|
Hypoplasia of the thymus |
ORPHA:40366 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, Th... |
ORPHA:83471 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Type II diabetes mellitus, Elevated hemoglobin A1c, Obesity |
OMIM:618620 |
Smith-Magenis Syndrome |
|
Abnormality of the thyroid gland, Synophrys, Increased body weight |
OMIM:182290 |
Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Increased body weight, Leukopenia, Abnormal salivary gland morphology, ... |
ORPHA:2298 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hepatitis, Cholestasis, Obesity, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular ... |
ORPHA:209902 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Cryptorchidism, Streak ovary, Obesity |
OMIM:194072 |
Sheehan Syndrome |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Sparse axillar... |
ORPHA:91355 |
Ataxia-Telangiectasia |
|
Failure to thrive, Diabetes mellitus, Female hypogonadism, Abnormal hair morphology, Acute lympho... |
OMIM:208900 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Absent eyebrow, Autoimmune hemolytic anemia, Hepatitis, Hypoplasia of the thymus, Sparse hair, Na... |
ORPHA:436252 |
Narcolepsy 7 |
|
Type II diabetes mellitus, Obesity |
OMIM:614250 |
Lethal Congenital Contracture Syndrome 10 |
|
Hypoplasia of the thymus, Cardiomegaly |
OMIM:617022 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Premature pubarche, Hypopigmentation of hair, Precocious puberty, Cryptorchidism, Increased body ... |
ORPHA:398069 |
Sotos Syndrome |
|
Sparse eyebrow, Cryptorchidism, Increased body weight, Overgrowth, Prolonged neonatal jaundice, H... |
OMIM:117550 |
Gaisböck Syndrome |
|
Diabetes mellitus, Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentration,... |
ORPHA:90041 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism, Enlarged polycys... |
ORPHA:91 |
Monosomy 22 |
|
Aplasia of the thymus, Synophrys, Hypochromic microcytic anemia, Hepatosplenomegaly, Sparse hair |
ORPHA:96123 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Increased body weight |
ORPHA:64745 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... |
OMIM:618223 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... |
ORPHA:99889 |
Treacher-Collins Syndrome |
|
Absent eyelashes, Cryptorchidism, Abnormal hair morphology, Low anterior hairline, Abnormality of... |
ORPHA:861 |
Cushing Disease |
|
Increased urinary cortisol level, Sparse scalp hair, Adrenal hyperplasia, Diabetes mellitus, Para... |
ORPHA:96253 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Adrenal hypoplasia, Hypoplasia of the thymus, Ascites, Right ventricular hypert... |
OMIM:613177 |
Eec Syndrome |
|
Slow-growing hair, Decreased response to growth hormone stimulation test, Sparse eyebrow, Fine ha... |
ORPHA:1896 |
Wiskott-Aldrich Syndrome |
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Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... |
ORPHA:906 |
Carney Complex |
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Hepatocellular carcinoma, Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, ... |
ORPHA:1359 |
Digeorge Syndrome |
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Hepatic steatosis, Parathyroid agenesis, Decreased circulating parathyroid hormone level, Thrombo... |
OMIM:188400 |
Hellp Syndrome |
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Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Increased body weight, Mic... |
ORPHA:244242 |
Fraser Syndrome 2 |
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Hypoplasia of the thymus, Low anterior hairline |
OMIM:617666 |
22Q11.2 Deletion Syndrome |
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Hypoparathyroidism, Hyperthyroidism, Abnormality of the tonsils, Cryptorchidism, Splenomegaly, Ob... |
ORPHA:567 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
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Absent nipple, Aplasia of the thymus, Sparse eyebrow, Congenital hypothyroidism, Hydrocele testis... |
OMIM:620186 |
Wiedemann-Rautenstrauch Syndrome |
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Sparse scalp hair, Absent eyebrow, Alopecia, Small for gestational age, Sparse eyelashes, Absent ... |
OMIM:264090 |
Truncus Arteriosus |
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Adrenocortical abnormality, Hypoplasia of the thymus, Right ventricular hypertrophy, Cardiomegaly |
ORPHA:3384 |