Photoparoxysmal Response 1 |
|
EEG with photoparoxysmal response |
OMIM:132100 |
Electroencephalographic Peculiarity: 14 And 6 Per Sec. Positive Spike Phenomenon |
|
EEG abnormality |
OMIM:130200 |
Electroencephalographic Peculiarity: Fronto-Precentral Beta Wave Groups |
|
EEG abnormality |
OMIM:130300 |
Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Overweight, Obesity |
OMIM:613375 |
Obesity |
|
Increased waist to hip ratio, Obesity |
OMIM:601665 |
Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Abdominal obesity |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Abdominal obesity |
OMIM:605572 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly, Dementia |
ORPHA:2274 |
Prader-Willi Syndrome (Type 2) |
|
Truncal obesity |
DECIPHER:53 |
Prader-Willi syndrome (Type 1) |
|
Truncal obesity |
DECIPHER:14 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Bardet-Biedl Syndrome 11 |
|
Obesity |
OMIM:615988 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia |
OMIM:118830 |
Summitt Syndrome |
|
Obesity |
OMIM:272350 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Large for gestational age |
ORPHA:356996 |
Dysplasia Epiphysealis Hemimelica |
|
Overgrowth |
OMIM:127800 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age |
OMIM:256450 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Large for gestational age |
OMIM:601820 |
Narcolepsy Type 1 |
|
Obesity |
ORPHA:2073 |
Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Tall stature |
OMIM:618406 |
Bardet-Biedl Syndrome 18 |
|
Obesity |
OMIM:615995 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly, Hypertriglyceridemia |
OMIM:619175 |
Autism, Susceptibility To, X-Linked 6 |
|
Obesity |
OMIM:300872 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity |
OMIM:619058 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice |
OMIM:179700 |
Cortisone Reductase Deficiency 2 |
|
Obesity |
OMIM:614662 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili... |
OMIM:237800 |
Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Obesity |
ORPHA:2206 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Truncal obesity, Obesity, Large for gestational age |
OMIM:240900 |
Bardet-Biedl Syndrome 10 |
|
Obesity |
OMIM:615987 |
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Obesity |
ORPHA:436141 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Obesity |
OMIM:264120 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Obesity |
OMIM:309585 |
Obesity And Hypopigmentation |
|
Overgrowth, Obesity |
OMIM:620195 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Obesity |
OMIM:608320 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Trimethylaminuria |
|
Splenomegaly, Depression, Anemia, Neutropenia |
OMIM:602079 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia |
OMIM:206400 |
Adenocarcinoma Of The Esophagus |
|
Obesity |
ORPHA:99976 |
Microduplication Xp11.22P11.23 Syndrome |
|
Obesity |
ORPHA:217377 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stools, Portal fibro... |
OMIM:619868 |
Hernández-Aguirre Negrete Syndrome |
|
Obesity |
ORPHA:2139 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Large for gestational age |
ORPHA:2432 |
Adiposis Dolorosa |
|
Obesity |
OMIM:103200 |
Bardet-Biedl Syndrome 5 |
|
Obesity |
OMIM:615983 |
Obesity-Hypoventilation Syndrome |
|
Obesity |
OMIM:257500 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl... |
OMIM:618963 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis, ... |
OMIM:271500 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Overweight |
OMIM:620065 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Childhood-onset truncal obesity, Obesity |
ORPHA:71529 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... |
ORPHA:766 |
Hypothyroidism, Central, With Testicular Enlargement |
|
Overweight |
OMIM:300888 |
Polycystic Ovary Syndrome 1 |
|
Obesity |
OMIM:184700 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Obesity |
OMIM:619755 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concent... |
OMIM:616860 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity |
ORPHA:88643 |
Bardet-Biedl Syndrome 22 |
|
Obesity, Large for gestational age |
OMIM:617119 |
Achalasia, Familial Esophageal |
|
Achalasia, Xerostomia |
OMIM:200400 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1 |
|
Class III obesity |
OMIM:616418 |
Cortisone Reductase Deficiency 1 |
|
Obesity |
OMIM:604931 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... |
OMIM:616278 |
Obesity, Hyperphagia, And Developmental Delay |
|
Obesity |
OMIM:613886 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Nephronophthisis 15 |
|
Obesity |
OMIM:614845 |
Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... |
OMIM:207750 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Obesity |
OMIM:618725 |
Hepatic Veno-Occlusive Disease |
|
Increased body weight |
ORPHA:890 |
Portal Hypertension, Noncirrhotic, 1 |
|
Splenomegaly, Hepatomegaly, Portal hypertension |
OMIM:617068 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia |
OMIM:612653 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Sple... |
OMIM:615234 |
Bardet-Biedl Syndrome 8 |
|
Obesity |
OMIM:615985 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Truncal obesity, Abdominal obesity |
OMIM:618160 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Overweight, Obesity |
OMIM:614651 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Obesity |
ORPHA:329249 |
Chromosome Xq21 Deletion Syndrome |
|
Obesity |
OMIM:303110 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho... |
OMIM:182900 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H... |
OMIM:235700 |
Biemond Syndrome Type 2 |
|
Obesity |
ORPHA:141333 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi... |
OMIM:616649 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Childhood-onset truncal obesity, Obesity |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Childhood-onset truncal obesity, Obesity |
ORPHA:71526 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... |
OMIM:266200 |
Erythermalgia, Primary |
|
Diarrhea, Constipation, Xerostomia, Hyperhidrosis |
OMIM:133020 |
Fish-Eye Disease |
|
Splenomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy, Hepatomegaly |
ORPHA:79292 |
Sjogren Syndrome |
|
Xerostomia |
OMIM:270150 |
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Obesity |
ORPHA:521390 |
Leptin Deficiency Or Dysfunction |
|
Obesity |
OMIM:614962 |
Retinal Dystrophy And Obesity |
|
Obesity |
OMIM:616188 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Truncal obesity, Large for gestational age |
ORPHA:293964 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Increased body mass index, Increased body weight |
OMIM:614450 |
Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Obesity |
OMIM:300238 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Bardet-Biedl Syndrome 2 |
|
Obesity |
OMIM:615981 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Intestinal Botulism |
|
Diarrhea, Xerostomia, Dysphagia |
ORPHA:178481 |
Joubert Syndrome 32 |
|
Tall stature, Large for gestational age |
OMIM:617757 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Reticulocytosis, Increased circulating ferritin concentration, Splenomegaly, Jaundi... |
OMIM:194380 |
Pseudohypoparathyroidism, Type Ib |
|
Obesity |
OMIM:603233 |
Bardet-Biedl Syndrome 3 |
|
Obesity |
OMIM:600151 |
Laurence-Moon Syndrome |
|
Obesity |
OMIM:245800 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Increased body weight |
ORPHA:276608 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Postorgasmic Illness Syndrome |
|
Xerostomia, Hyperhidrosis |
ORPHA:279947 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Abdominal obesity, Increased body weight |
OMIM:615954 |
X-Linked Intellectual Disability, Shashi Type |
|
Obesity |
ORPHA:85286 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... |
OMIM:300908 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Increased body weight |
ORPHA:589905 |
Narcolepsy 7 |
|
Obesity |
OMIM:614250 |
Congenital Myopathy 9A |
|
Obesity |
OMIM:618822 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... |
OMIM:185000 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Obesity |
OMIM:601794 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Iatrogenic Botulism |
|
Constipation, Xerostomia, Dysphagia |
ORPHA:254509 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Small for gestational age, Increased body weight |
OMIM:274300 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati... |
OMIM:238600 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:363741 |
Body Mass Index Quantitative Trait Locus 19 |
|
Obesity |
OMIM:617885 |
Inhalational Botulism |
|
Diarrhea, Xerostomia, Constipation |
ORPHA:254504 |
Hyperlipoproteinemia, Type Id |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre... |
OMIM:615947 |
Blue Diaper Syndrome |
|
Increased body weight |
ORPHA:94086 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Small for gestational age, Overgrowth, Large for gestational age |
ORPHA:254534 |
Elliptocytosis 1 |
|
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis |
OMIM:611804 |
Botulism |
|
Diarrhea, Xerostomia, Dysphagia, Constipation |
ORPHA:1267 |
Aplasia Of Lacrimal And Salivary Glands |
|
Xerostomia |
OMIM:180920 |
Bardet-Biedl Syndrome 6 |
|
Obesity |
OMIM:605231 |
Prune Belly Syndrome |
|
Xerostomia, Oligohydramnios |
OMIM:100100 |
Proprotein Convertase 1/3 Deficiency |
|
Obesity |
OMIM:600955 |
Foodborne Botulism |
|
Diarrhea, Xerostomia, Dysphagia, Constipation |
ORPHA:228371 |
Adiposis Dolorosa |
|
Hypothyroidism, Constipation, Xerostomia, Diarrhea |
ORPHA:36397 |
Abcd Syndrome |
|
Large for gestational age |
OMIM:600501 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Increased body weight |
ORPHA:64745 |
Burning Mouth Syndrome |
|
Xerostomia |
ORPHA:353253 |
Smith-Magenis Syndrome |
|
Increased body weight |
OMIM:182290 |
Yao Syndrome |
|
Diarrhea, Xerostomia |
OMIM:617321 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Increased body weight |
OMIM:300860 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Obesity |
OMIM:194072 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Obesity |
OMIM:618620 |
Helix Syndrome |
|
Anhidrosis, Hyperparathyroidism, Xerostomia, Hypohidrosis |
OMIM:617671 |
Wilson Disease |
|
Failure to thrive, Increased body weight, Weight loss |
ORPHA:905 |
Reynolds Syndrome |
|
Gastroesophageal reflux, Ascites, Xerostomia, Dysphagia |
ORPHA:779 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Increased body weight, Large for gestational age |
ORPHA:263455 |
Infant Botulism |
|
Constipation, Xerostomia, Bowel incontinence, Dysphagia |
ORPHA:178478 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Increased body weight |
OMIM:615830 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hematochezia, Diarrhea, Xerostomia, Vomiting |
OMIM:175500 |
Lambert-Eaton Myasthenic Syndrome |
|
Constipation, Xerostomia, Hypohidrosis |
ORPHA:43393 |
Insulinoma |
|
Increased body weight |
ORPHA:97279 |
Retinitis Pigmentosa 74 |
|
Obesity |
OMIM:616562 |
Kilquist Syndrome |
|
Gastroesophageal reflux, Xerostomia, Chronic constipation |
OMIM:619080 |
Sotos Syndrome |
|
Overgrowth, Increased body weight, Tall stature |
OMIM:117550 |
Lacrimoauriculodentodigital Syndrome 3 |
|
Xerostomia |
OMIM:620193 |
Adrenocortical Carcinoma |
|
Increased body weight, Weight loss |
ORPHA:1501 |
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Anhidrosis, Xerostomia |
OMIM:614941 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Abdominal obesity, Increased body weight |
ORPHA:189427 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Abdominal obesity, Failure to thrive, Increased body weight |
ORPHA:398069 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Failure to thrive, Increased body weight |
ORPHA:264580 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Increased body weight |
ORPHA:79240 |
Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Autoimmune hypoparathyroidism, Primary adrenal insufficiency, Xerostomia, Gra... |
ORPHA:227982 |
Insulin-Resistance Syndrome Type B |
|
Abnormality of body weight, Decreased body weight, Increased body weight, Weight loss |
ORPHA:2298 |
Hellp Syndrome |
|
Increased body weight |
ORPHA:244242 |
Igg4-Related Submandibular Gland Disease |
|
Facial edema, Periorbital edema, Prostatitis, Xerostomia |
ORPHA:449432 |
Cushing Disease |
|
Truncal obesity, Abdominal obesity, Increased body weight |
ORPHA:96253 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Truncal obesity, Abdominal obesity, Increased body weight, Weight loss |
ORPHA:99889 |
Carney Complex |
|
Abdominal obesity, Increased body weight, Tall stature |
ORPHA:1359 |