Maturity-Onset Diabetes Of The Young, Type 11 |
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Obesity, Overweight |
OMIM:613375 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
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Large for gestational age, Truncal obesity |
OMIM:240900 |
Obesity |
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Increased waist to hip ratio, Obesity |
OMIM:601665 |
Triglyceride Storage Disease, Type Ii |
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Obesity |
OMIM:190430 |
Bardet-Biedl Syndrome 14 |
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Obesity |
OMIM:615991 |
Spermatogenic Failure, X-Linked, 1 |
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Obesity |
OMIM:305700 |
Macrosomia With Microphthalmia, Lethal |
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Large for gestational age |
OMIM:248110 |
Athrombia, Essential |
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Impaired platelet aggregation, Impaired platelet adhesion, Prolonged bleeding time |
OMIM:209050 |
Von Willebrand Disease, X-Linked Form |
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Prolonged bleeding time |
OMIM:314560 |
Abdominal Obesity-Metabolic Syndrome 1 |
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Abdominal obesity |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
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Abdominal obesity |
OMIM:605572 |
Glanzmann Thrombasthenia 2 |
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Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619267 |
Bardet-Biedl Syndrome 11 |
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Obesity |
OMIM:615988 |
Halothane Hepatitis |
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Obesity, Hepatitis, Viral hepatitis, Jaundice |
OMIM:234350 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
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Obesity |
ORPHA:1078 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
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Large for gestational age, Truncal obesity |
ORPHA:293964 |
Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
Hyperostosis Frontalis Interna |
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Obesity, Elevated circulating alkaline phosphatase concentration |
OMIM:144800 |
Bardet-Biedl Syndrome 12 |
|
Obesity |
OMIM:615989 |
Tatsumi Factor Deficiency |
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Prolonged bleeding time |
OMIM:272650 |
Intellectual Developmental Disorder, X-Linked 97 |
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Obesity |
OMIM:300803 |
Pseudo-Von Willebrand Disease |
|
Prolonged bleeding time |
OMIM:177820 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age |
OMIM:256450 |
Macrosomia Adiposa Congenita |
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Large for gestational age, Obesity |
OMIM:248100 |
Hepatic Veno-Occlusive Disease |
|
Increased body weight, Jaundice, Elevated hepatic transaminase |
ORPHA:890 |
Summitt Syndrome |
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Obesity |
OMIM:272350 |
Bleeding Disorder, Platelet-Type, 18 |
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Impaired platelet aggregation, Prolonged bleeding time |
OMIM:615888 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
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Large for gestational age |
OMIM:601820 |
Glanzmann Thrombasthenia 1 |
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Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:273800 |
Body Mass Index Quantitative Trait Locus 20 |
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Obesity, Tall stature |
OMIM:618406 |
Nephronophthisis 15 |
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Obesity, Hepatic failure |
OMIM:614845 |
Cortisone Reductase Deficiency 2 |
|
Obesity |
OMIM:614662 |
Central Precocious Puberty |
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Increased body weight, Obesity, Overgrowth |
ORPHA:759 |
Ankylosing Vertebral Hyperostosis With Tylosis |
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Obesity |
ORPHA:2206 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Obesity, Childhood-onset truncal obesity |
ORPHA:71529 |
Bardet-Biedl Syndrome 21 |
|
Obesity, Overweight, Elevated hepatic transaminase |
OMIM:617406 |
Bardet-Biedl Syndrome 22 |
|
Large for gestational age, Obesity |
OMIM:617119 |
Platelet Glycoprotein Iv Deficiency |
|
Prolonged bleeding time |
OMIM:608404 |
Bleeding Disorder, Platelet-Type, 14 |
|
Prolonged bleeding time |
OMIM:614158 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Obesity |
OMIM:264120 |
Bleeding Disorder, Platelet-Type, 11 |
|
Prolonged bleeding time |
OMIM:614201 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity |
ORPHA:88643 |
Wilson Disease |
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Failure to thrive, Acute hepatitis, Acute hepatic failure, Elevated hepatic transaminase, Hepatit... |
ORPHA:905 |
Platelet Disorder, Undefined |
|
Impaired platelet aggregation, Prolonged bleeding time |
OMIM:173420 |
Blue Diaper Syndrome |
|
Increased body weight, Elevated hepatic transaminase |
ORPHA:94086 |
Polycystic Ovary Syndrome 1 |
|
Obesity |
OMIM:184700 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Increased body weight, Increased body mass index |
OMIM:614450 |
Hypothyroidism, Central, With Testicular Enlargement |
|
Overweight |
OMIM:300888 |
Obesity-Hypoventilation Syndrome |
|
Obesity |
OMIM:257500 |
Factor V Deficiency |
|
Prolonged prothrombin time, Prolonged bleeding time |
OMIM:227400 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Increased body weight |
ORPHA:276608 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Obesity |
OMIM:619755 |
Hyperinsulinism Due To Hnf4A Deficiency |
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Large for gestational age, Increased body weight, Elevated circulating alkaline phosphatase conce... |
ORPHA:263455 |
Low Phospholipid-Associated Cholelithiasis |
|
Elevated gamma-glutamyltransferase level, Elevated hepatic transaminase, Intrahepatic cholestasis... |
ORPHA:69663 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Increased body weight, Small for gestational age |
OMIM:274300 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Abdominal obesity, Increased body weight |
OMIM:615954 |
Gray Platelet Syndrome |
|
Impaired collagen-induced platelet aggregation, Impaired thrombin-induced platelet aggregation, P... |
OMIM:139090 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
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Large for gestational age, Elevated hepatic transaminase, Elevated circulating alkaline phosphata... |
OMIM:616026 |
Narcolepsy 7 |
|
Obesity |
OMIM:614250 |
Prothrombin Deficiency, Congenital |
|
Prolonged prothrombin time, Prolonged bleeding time |
OMIM:613679 |
Smith-Magenis Syndrome |
|
Increased body weight |
OMIM:182290 |
Hellp Syndrome |
|
Increased body weight, Elevated hepatic transaminase, Prolonged prothrombin time, Increased circu... |
ORPHA:244242 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Increased body weight |
OMIM:300860 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Failure to thrive, Abnormal enzyme/coenzyme activity, Abnormal erythrocyte enzyme level, Elevated... |
ORPHA:264580 |
Storage Pool Platelet Disease |
|
Prolonged bleeding time |
OMIM:185050 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Increased body weight |
ORPHA:64745 |
Sotos Syndrome |
|
Increased body weight, Overgrowth, Tall stature, Prolonged neonatal jaundice |
OMIM:117550 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Increased body weight, Abnormal enzyme/coenzyme activity, Elevated hepatic transaminase |
ORPHA:79240 |
Insulinoma |
|
Increased body weight |
ORPHA:97279 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Increased body weight |
OMIM:615830 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Abdominal obesity, Increased body weight, Elevated hepatic transaminase |
ORPHA:189439 |
Adrenocortical Carcinoma |
|
Increased body weight, Weight loss |
ORPHA:1501 |
Magel2-Related Prader-Willi-Like Syndrome |
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Abdominal obesity, Increased body weight, Failure to thrive |
ORPHA:398069 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
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Abdominal obesity, Increased body weight |
ORPHA:189427 |
Insulin-Resistance Syndrome Type B |
|
Increased body weight, Weight loss, Decreased body weight, Abnormality of body weight |
ORPHA:2298 |
Cushing Disease |
|
Abdominal obesity, Increased body weight, Truncal obesity |
ORPHA:96253 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Abdominal obesity, Increased body weight, Weight loss, Truncal obesity |
ORPHA:99889 |
Carney Complex |
|
Abdominal obesity, Increased body weight, Tall stature |
ORPHA:1359 |