Maturity-Onset Diabetes Of The Young, Type 2 |
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Maturity-onset diabetes of the young |
OMIM:125851 |
Type 1 Diabetes Mellitus 2 |
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Type I diabetes mellitus |
OMIM:125852 |
Maturity-Onset Diabetes Of The Young, Type 9 |
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Maturity-onset diabetes of the young |
OMIM:612225 |
Maturity-Onset Diabetes Of The Young, Type 4 |
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Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:606392 |
Maturity-Onset Diabetes Of The Young, Type 6 |
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Maturity-onset diabetes of the young |
OMIM:606394 |
Maturity-Onset Diabetes Of The Young, Type 7 |
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Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:610508 |
Type 1 Diabetes Mellitus 20 |
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Type I diabetes mellitus |
OMIM:612520 |
Type 1 Diabetes Mellitus 15 |
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Type I diabetes mellitus, Diabetes mellitus |
OMIM:601666 |
Type 1 Diabetes Mellitus 6 |
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Diabetes mellitus |
OMIM:601941 |
Type 1 Diabetes Mellitus 10 |
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Diabetes mellitus |
OMIM:601942 |
Pituitary Adenoma 5, Multiple Types |
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Pituitary adenoma |
OMIM:617540 |
Diabetes Mellitus, Transient Neonatal, 2 |
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Transient neonatal diabetes mellitus, Type II diabetes mellitus |
OMIM:610374 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
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Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... |
OMIM:601820 |
Panhypopituitarism, X-Linked |
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Panhypopituitarism |
OMIM:312000 |
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism |
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Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimulation test |
OMIM:300123 |
Non-Acquired Isolated Growth Hormone Deficiency |
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Anterior hypopituitarism |
ORPHA:631 |
Pituitary Adenoma 2, Growth Hormone-Secreting |
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Pituitary adenoma, Elevated circulating growth hormone concentration |
OMIM:300943 |
Leydig Cell Hypoplasia, Type I |
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Increased circulating gonadotropin level, Hypergonadotropic hypogonadism |
OMIM:238320 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
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Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Pituitary Dwarfism With Large Sella Turcica |
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Hypothyroidism, Decreased response to growth hormone stimulation test |
OMIM:262710 |
Maturity-Onset Diabetes Of The Young, Type 3 |
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Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
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Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... |
OMIM:256450 |
Pituicytoma |
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Hypopituitarism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ... |
ORPHA:251623 |
Hyperprolactinemia |
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Increased circulating prolactin concentration |
OMIM:615555 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
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Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Maturity-Onset Diabetes Of The Young, Type 10 |
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Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
Type 2 Diabetes Mellitus |
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Insulin resistance, Type II diabetes mellitus |
OMIM:125853 |
Pituitary Carcinoma |
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Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... |
ORPHA:300385 |
Pituitary Adenoma 1, Multiple Types |
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Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... |
OMIM:102200 |
Short Stature Due To Ghsr Deficiency |
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Decreased serum insulin-like growth factor 1, Hypoglycemia, Abnormality of body weight, Decreased... |
ORPHA:314811 |
Premature Ovarian Failure 1 |
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Increased circulating gonadotropin level |
OMIM:311360 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
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Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin... |
OMIM:606762 |
Isolated Growth Hormone Deficiency, Type Ib |
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Reduced circulating growth hormone concentration, Decreased response to growth hormone stimulatio... |
OMIM:612781 |
Isolated Growth Hormone Deficiency, Type Iv |
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Impaired growth-hormone response to insulin stimulation test, Decreased serum insulin-like growth... |
OMIM:618157 |
Growth Hormone Deficiency, Isolated Partial |
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Small pituitary gland, Decreased response to growth hormone stimulation test |
OMIM:615925 |
Laryngeal Neuroendocrine Tumor |
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Adrenocorticotropic hormone excess, Increased serum serotonin, Elevated circulating calcitonin co... |
ORPHA:100083 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
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Hypoglycemia |
ORPHA:35701 |
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome |
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Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Adrenocorti... |
ORPHA:231720 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
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Decreased response to growth hormone stimulation test, Precocious puberty, Pituitary adenoma, Adr... |
ORPHA:91354 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
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Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
Pituitary Hormone Deficiency, Combined, 3 |
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Anterior hypopituitarism, Gonadotropin deficiency, Decreased response to growth hormone stimulati... |
OMIM:221750 |
Ovarian Dysgenesis 1 |
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Increased circulating gonadotropin level |
OMIM:233300 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
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Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess |
OMIM:613743 |
Glucocorticoid Deficiency 3 |
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Recurrent hypoglycemia |
OMIM:609197 |
Hyperinsulinism Due To Insr Deficiency |
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Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
Premature Ovarian Failure 17 |
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Elevated circulating luteinizing hormone level, Decreased inhibin B level, Decreased serum estrad... |
OMIM:619146 |
Precocious Puberty, Central, 1 |
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Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti... |
OMIM:176400 |
Glycogen Storage Disease 0, Liver |
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Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Premature Ovarian Failure 14 |
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Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ... |
OMIM:618014 |
Diabetes Mellitus, Ketosis-Prone |
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Beta-cell dysfunction, Insulin resistance, Diabetes mellitus |
OMIM:612227 |
Insulin Autoimmune Syndrome |
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Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
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Increased circulating gonadotropin level, Decreased testicular size |
ORPHA:399805 |
Isolated Growth Hormone Deficiency, Type Ia |
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Decreased serum insulin-like growth factor 1, Hypoglycemia, Reduced circulating growth hormone co... |
OMIM:262400 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
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Impaired gluconeogenesis, Hypoglycemia, Hepatic steatosis |
OMIM:261650 |
Pituitary Hormone Deficiency, Combined, 4 |
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Hypothyroidism, Hypoglycemia, Impaired growth-hormone response to insulin stimulation test, Adren... |
OMIM:262700 |
Short Stature Due To Partial Ghr Deficiency |
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Decreased serum insulin-like growth factor 1, Hypoglycemia, Delayed puberty |
ORPHA:314802 |
Isolated Growth Hormone Deficiency, Type Ii |
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Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te... |
OMIM:173100 |
Hypothyroidism, Central, With Testicular Enlargement |
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Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Inappropriately normal t... |
OMIM:300888 |
3-Methylglutaconic Aciduria Type 1 |
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Hepatomegaly, Failure to thrive, Hypoglycemia |
ORPHA:67046 |
Premature Ovarian Failure 2A |
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Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:300511 |
Glycogen Storage Disease Vi |
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Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia, Failure to thrive in infancy |
OMIM:232700 |
Spermatogenic Failure, X-Linked, 4 |
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Abnormal prolactin level, Decreased serum testosterone concentration, Elevated circulating follic... |
OMIM:301077 |
Spermatogenic Failure 75 |
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Elevated circulating follicle stimulating hormone level |
OMIM:619949 |
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
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Hypoglycemia |
OMIM:223500 |
Hypertriglyceridemia 1 |
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Hypopituitarism |
OMIM:145750 |
Premature Ovarian Failure 20 |
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Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:619938 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
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Hepatomegaly, Hypoglycemia |
OMIM:609016 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
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Nonketotic hypoglycemia, Large for gestational age, Abnormal circulating insulin concentration, H... |
ORPHA:293964 |
Fructose And Galactose Intolerance |
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Hypoglycemia |
OMIM:229500 |
Mccune-Albright Syndrome |
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Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... |
OMIM:174800 |
Panhypophysitis |
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Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... |
ORPHA:95513 |
Thymic Neuroendocrine Tumor |
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Pituitary null cell adenoma, Pancreatic islet cell adenoma, Neoplasm of the thymus, Pituitary ade... |
ORPHA:97289 |
Pituitary Dermoid And Epidermoid Cysts |
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Enlarged pituitary gland, Neoplasm of the anterior pituitary, Hypogonadism, Hyperpituitarism, Ant... |
ORPHA:91351 |
Premature Ovarian Failure 16 |
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Decreased serum estradiol, Elevated circulating follicle stimulating hormone level |
OMIM:618723 |
Adenohypophysitis |
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Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... |
ORPHA:95512 |
Maturity-Onset Diabetes Of The Young, Type 14 |
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Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:616511 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
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Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... |
ORPHA:91350 |
Spermatogenic Failure 28 |
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Decreased testicular size, Decreased serum testosterone concentration, Elevated circulating folli... |
OMIM:618086 |
Joubert Syndrome 26 |
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Panhypopituitarism, Decreased response to growth hormone stimulation test, Central hypothyroidism |
OMIM:616784 |
Hyperinsulinism Due To Hnf1A Deficiency |
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Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypogl... |
ORPHA:324575 |
Prolactin Deficiency With Obesity And Enlarged Testes |
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Macroorchidism, Reduced circulating prolactin concentration |
OMIM:264120 |
Diarrhea 13 |
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Recurrent hypoglycemia, Failure to thrive, Hepatic steatosis |
OMIM:620357 |
Multiple Endocrine Neoplasia, Type I |
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Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Pituitary adeno... |
OMIM:131100 |
Pituitary Gigantism |
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Elevated circulating growth hormone concentration, Hyperhidrosis, Increased circulating insulin-l... |
ORPHA:99725 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
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Reduced circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone con... |
ORPHA:99832 |
Prolactin Deficiency, Isolated |
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Reduced circulating prolactin concentration |
OMIM:264110 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
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Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of secondary se... |
ORPHA:2410 |
Hypogonadism-Cataract Syndrome |
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Male hypogonadism, Hypogonadism, Elevated circulating follicle stimulating hormone level |
OMIM:240950 |
X-Linked Acrogigantism |
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Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Elevated circulating growt... |
ORPHA:300373 |
Multiple Endocrine Neoplasia, Type Iv |
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Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... |
OMIM:610755 |
Ovarian Dysgenesis 7 |
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Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ... |
OMIM:618117 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
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Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Hyperhidrosis, Pancreatic islet-c... |
ORPHA:276608 |
Homozygous 11P15-P14 Deletion Syndrome |
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Failure to thrive, Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
Bonnemann-Meinecke-Reich Syndrome |
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Decreased response to growth hormone stimulation test |
ORPHA:1261 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
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Exaggerated startle response |
OMIM:617028 |
46,Xy Sex Reversal 5 |
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Elevated circulating follicle stimulating hormone level |
OMIM:613080 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
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Glucose intolerance, Hyperglycemia |
OMIM:307500 |
Spermatogenic Failure 14 |
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Abnormal circulating testosterone concentration, Abnormal circulating luteinizing hormone concent... |
OMIM:615842 |
Premature Ovarian Failure 11 |
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Elevated circulating follicle stimulating hormone level |
OMIM:616946 |
Chromosome Xq26.3 Duplication Syndrome |
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Elevated circulating growth hormone concentration, Pituitary adenoma, Hyperhidrosis, Increased ci... |
OMIM:300942 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
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Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... |
OMIM:609734 |
Premature Ovarian Failure 9 |
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Hypoplasia of the ovary, Elevated circulating follicle stimulating hormone level, Elevated circul... |
OMIM:615724 |
Gangliocytoma |
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Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar... |
ORPHA:251937 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
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Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for gestational a... |
ORPHA:79644 |
Obesity Due To Prohormone Convertase I Deficiency |
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Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
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Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... |
ORPHA:71526 |
Pancreatic Agenesis 2 |
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Diabetes mellitus, Small for gestational age, Pancreatic aplasia, Pancreatic hypoplasia, Exocrine... |
OMIM:615935 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
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Hypoglycemia |
ORPHA:366 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
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Hepatomegaly, Hypoglycemia |
OMIM:615158 |
Pituitary Hormone Deficiency, Combined, 2 |
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Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... |
OMIM:262600 |
Ovarian Dysgenesis 10 |
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Streak ovary, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Decreased ... |
OMIM:619834 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
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Increased circulating gonadotropin level, Decreased testicular size |
ORPHA:399808 |
Non-Acquired Panhypopituitarism |
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Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:90695 |
Premature Ovarian Failure 8 |
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Streak ovary, Elevated circulating luteinizing hormone level, Ovarian neoplasm, Decreased serum e... |
OMIM:615723 |
Post-Traumatic Pituitary Deficiency |
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Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c... |
ORPHA:95619 |
Leptin Receptor Deficiency |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
OMIM:614963 |
Ovarian Dysgenesis 5 |
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Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ... |
OMIM:617690 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
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Decreased response to growth hormone stimulation test |
OMIM:245590 |
Pituitary Apoplexy |
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Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... |
ORPHA:95613 |
Premature Ovarian Failure 10 |
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Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Elevated circulating fol... |
OMIM:612885 |
Mody |
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Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... |
ORPHA:552 |
Acth Deficiency, Isolated |
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Decreased circulating cortisol level, Adrenocorticotropic hormone deficiency, Adrenal hypoplasia |
OMIM:201400 |
Premature Ovarian Failure 15 |
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Decreased cirrculating antimullerian hormone circulation, Elevated circulating follicle stimulati... |
OMIM:618096 |
Endocardial Fibroelastosis |
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Cryptorchidism, Anterior hypopituitarism |
ORPHA:2022 |
Functioning Gonadotropic Adenoma |
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Macroorchidism, postpubertal, Decreased response to growth hormone stimulation test, Isosexual pr... |
ORPHA:91348 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulating thyroid-stimulat... |
OMIM:617872 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
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Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,... |
OMIM:262190 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
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Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ... |
ORPHA:90793 |
Ovarian Dysgenesis 3 |
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Aplasia of the ovary, Elevated circulating follicle stimulating hormone level, Elevated circulati... |
OMIM:614324 |
Tropical Pancreatitis |
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Pancreatic adenocarcinoma, Maternal diabetes, Insulin-dependent but ketosis-resistant diabetes, J... |
ORPHA:103918 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Hypoglycemia, Failure to thrive in infancy |
ORPHA:6 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia |
OMIM:618160 |
Immunodeficiency 54 |
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Adrenal insufficiency, Adrenocorticotropic hormone excess |
OMIM:609981 |
Non-Functioning Pituitary Adenoma |
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Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
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Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Cryptorchidism, Abnormal ... |
OMIM:614736 |
Nelson Syndrome |
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Increased urinary cortisol level, Testicular neoplasm, Pituitary corticotropic cell adenoma, Adre... |
ORPHA:199244 |
Ovarian Dysgenesis 9 |
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Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Decreased serum estradio... |
OMIM:619665 |
Kearns-Sayre Syndrome |
|
Anterior hypopituitarism |
ORPHA:480 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
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Enlarged polycystic ovaries, Insulin-resistant diabetes mellitus, Elevated circulating growth hor... |
ORPHA:90301 |
Pancreatic Agenesis 1 |
|
Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Exocrine pancreatic insufficienc... |
OMIM:260370 |
Septooptic Dysplasia |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Anterior pituitary hyp... |
OMIM:182230 |
Glucocorticoid Deficiency 2 |
|
Decreased circulating cortisol level, Increased circulating ACTH level, Recurrent hypoglycemia |
OMIM:607398 |
Culler-Jones Syndrome |
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Ectopic posterior pituitary, Anterior pituitary hypoplasia, Cryptorchidism, Hypogonadism, Hypopit... |
OMIM:615849 |
Pituitary Stalk Interruption Syndrome |
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Ectopic posterior pituitary, Failure to thrive, Hypoglycemia, Adrenal hypoplasia, Hypothyroidism,... |
ORPHA:95496 |
Ovarian Dysgenesis 8 |
|
Decreased cirrculating antimullerian hormone circulation, Decreased serum estradiol, Elevated cir... |
OMIM:618187 |
Rhyns Syndrome |
|
Hypopituitarism |
ORPHA:140976 |
X-Linked Intellectual Disability, Van Esch Type |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... |
ORPHA:163976 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... |
OMIM:620211 |
Premature Ovarian Failure 21 |
|
Decreased serum estradiol, Streak ovary, Precocious puberty in females, Elevated circulating foll... |
OMIM:620311 |
Premature Ovarian Failure 18 |
|
Decreased cirrculating antimullerian hormone circulation, Hypoplasia of the ovary, Elevated circu... |
OMIM:619203 |
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
|
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Decreased response to ... |
ORPHA:67045 |
Craniopharyngioma |
|
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu... |
ORPHA:54595 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... |
ORPHA:2235 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:95494 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response, Diabetes mellitus |
ORPHA:3198 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Type I diabetes mellitus, Anterior hypopituitarism, Hypohidrosis |
ORPHA:181 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Cryptorchidism, Increased circulating gonadotropin level, Hypogonadism, Decreased serum testoster... |
OMIM:300869 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Decreased thyroid-stimulating hormone level, Anterior pituitary hypoplasia, Reduced circulating p... |
OMIM:613038 |
46,Xy Sex Reversal 11 |
|
Elevated circulating luteinizing hormone level, Absence of pubertal development, Vanishing testis... |
OMIM:273250 |
Ppoma |
|
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Abnormality of the t... |
ORPHA:97278 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased... |
OMIM:613986 |
Propionic Acidemia |
|
Hepatomegaly, Hypoglycemia |
ORPHA:35 |
Pituitary Hormone Deficiency, Combined Or Isolated, 8 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... |
OMIM:620303 |
Premature Ovarian Failure 6 |
|
Streak ovary, Elevated circulating follicle stimulating hormone level, Elevated circulating lutei... |
OMIM:612310 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... |
OMIM:600955 |
Glycogen Storage Disease Ixb |
|
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia |
OMIM:261750 |
Hemochromatosis, Neonatal |
|
Hypoglycemia, Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged neonat... |
OMIM:231100 |
Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone l... |
OMIM:614129 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... |
ORPHA:91347 |
Grfoma |
|
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Neoplasm of the thym... |
ORPHA:97261 |
X-Linked Intellectual Disability, Cilliers Type |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... |
ORPHA:163971 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Hypoglycemia, Splenomegaly, Bile duct proliferation, Cirrhosis, Fasting hypoglycemi... |
OMIM:613027 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Hypoglycemia |
ORPHA:664 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Increased circulating androstenedione concentration, Congen... |
ORPHA:90791 |
Myasthenic Syndrome, Congenital, 22 |
|
Decreased response to growth hormone stimulation test |
OMIM:616224 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Micronodular cirrhosi... |
ORPHA:139507 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Hypoglycemia, Adrenogenital syndrome |
OMIM:201910 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone... |
ORPHA:85327 |
Somatostatinoma |
|
Neoplasm of the pancreas, Diabetes mellitus, Elevated circulating growth hormone concentration, A... |
ORPHA:97283 |
Ane Syndrome |
|
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Anterior pituitary h... |
ORPHA:157954 |
Perrault Syndrome 1 |
|
Increased circulating gonadotropin level |
OMIM:233400 |
Mccune-Albright Syndrome |
|
Hyperplasia of the Leydig cells, Hyperthyroidism, Macroorchidism, Elevated circulating growth hor... |
ORPHA:562 |
Congenital Isolated Acth Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Hepatitis, Hypoglycemic seizures, Adren... |
ORPHA:199296 |
Polyendocrine-Polyneuropathy Syndrome |
|
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglyc... |
ORPHA:453533 |
Pancreatitis, Hereditary |
|
Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Exocrine pancre... |
OMIM:167800 |
Septopreoptic Holoprosencephaly |
|
Precocious puberty, Anterior hypopituitarism, Central diabetes insipidus |
ORPHA:280195 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Pituitary hy... |
ORPHA:90674 |
Vipoma |
|
Neoplasm of the pancreas, Diabetes mellitus, Follicular thyroid carcinoma, Elevated circulating g... |
ORPHA:97282 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Small pituitary gland |
OMIM:614880 |
Meningioma |
|
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Re... |
ORPHA:2495 |
Orthostatic Hypotension 2 |
|
Hypoglycemia |
OMIM:618182 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Hypogonadotropic hyp... |
ORPHA:52901 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Cryptorchidism, Anterior hypopituitarism |
ORPHA:2863 |
Carney Complex, Type 1 |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Pheochromocytoma, Thyroid c... |
OMIM:160980 |
Triple A Syndrome |
|
Anterior hypopituitarism, Adrenal insufficiency |
ORPHA:869 |
Isolated Splenogonadal Fusion |
|
Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circulating gonadotropin level, Te... |
ORPHA:457083 |
Rhyns Syndrome |
|
Anterior hypopituitarism, Reduced circulating growth hormone concentration, Decreased response to... |
OMIM:602152 |
49,Xxxyy Syndrome |
|
Abnormality of the testis size, Increased circulating gonadotropin level, Primary gonadal insuffi... |
ORPHA:261534 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Diabetes mellitus, Opisthotonus |
OMIM:184850 |
Prolactinoma |
|
Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating growth hormone concentra... |
ORPHA:2965 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Elevated circula... |
ORPHA:289548 |
Zollinger-Ellison Syndrome |
|
Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ... |
ORPHA:913 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Elevated circulating luteinizing hormone level, Adrenal hyp... |
ORPHA:168558 |
Glucagonoma |
|
Neoplasm of the pancreas, Diabetes mellitus, Elevated circulating growth hormone concentration, A... |
ORPHA:97280 |
Fibrous Dysplasia Of Bone |
|
Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Elevated circulating growth ho... |
ORPHA:249 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Central hypothyroidis... |
OMIM:616113 |
Glucocorticoid Resistance, Generalized |
|
Hypoglycemia, Increased circulating ACTH level, Increased circulating cortisol level, Increased s... |
OMIM:615962 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypopituitarism, Hypothyroidism |
OMIM:619013 |
Myopathy, Mitochondrial, And Ataxia |
|
Hyperthyroidism, Increased circulating prolactin concentration |
OMIM:617675 |
Igg4-Related Thyroid Disease |
|
Nodular goiter, Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland... |
ORPHA:64744 |
Sheehan Syndrome |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... |
ORPHA:91355 |
Poems Syndrome |
|
Diabetes mellitus, Abnormality of the endocrine system, Primary adrenal insufficiency, Hypogonadi... |
ORPHA:2905 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Increased circulating gonadotropin level, Testicular dysgenesis, Decreased serum es... |
ORPHA:168563 |
Webb-Dattani Syndrome |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... |
OMIM:615926 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Pallister-Hall-Like Syndrome |
|
Anterior hypopituitarism, Hypothalamic hamartoma |
OMIM:241800 |
Leydig Cell Hypoplasia |
|
Hypergonadotropic hypogonadism, Female hypogonadism, Cryptorchidism, Testicular gonadoblastoma, A... |
ORPHA:755 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Hyperthyroidism, Increased circulating prolactin concentration |
ORPHA:502423 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... |
ORPHA:226307 |
Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... |
ORPHA:785 |
Insulin-Like Growth Factor I Deficiency |
|
Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone concentration |
OMIM:608747 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Jaundice, Failure to thrive, Hypoglycemia, Cirrhosis |
OMIM:617049 |
Frasier Syndrome |
|
Decreased serum estradiol, Increased circulating gonadotropin level, Streak ovary, Hypergonadotro... |
ORPHA:347 |
49,Xyyyy Syndrome |
|
Abnormality of the testis size, Increased circulating gonadotropin level, Primary gonadal insuffi... |
ORPHA:99330 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hepatomegaly, Diabetes mellitus, Hypoglycemia, Large for gestational age, Glycosuria |
OMIM:616026 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... |
OMIM:608643 |
Giant Axonal Neuropathy |
|
Abnormal pituitary gland morphology |
ORPHA:643 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Adrenomyeloneuropathy |
|
Primary adrenal insufficiency, Adrenocortical abnormality, Adrenal insufficiency, Adrenocorticotr... |
ORPHA:139399 |
Perrault Syndrome 4 |
|
Increased circulating gonadotropin level, Hypoplasia of the ovary, Decreased serum estradiol |
OMIM:615300 |
Pancreatic And Cerebellar Agenesis |
|
Failure to thrive, Diabetes mellitus, Hypoglycemia, Hyperglycemia, Pancreatic hypoplasia, Pancrea... |
OMIM:609069 |
Somatomammotropinoma |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentrati... |
ORPHA:314769 |
46,Xx Gonadal Dysgenesis |
|
Increased circulating gonadotropin level, Streak ovary, Decreased serum estradiol, Delayed puberty |
ORPHA:243 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Hypopituitarism, Hypohidrosis |
ORPHA:98813 |
Solitary Median Maxillary Central Incisor |
|
Anterior hypopituitarism, Decreased response to growth hormone stimulation test |
OMIM:147250 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... |
ORPHA:652 |
Snakebite Envenomation |
|
Hypopituitarism |
ORPHA:449285 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Jaundice, Increased circ... |
ORPHA:90790 |
Joubert Syndrome 38 |
|
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Small pituitary gland,... |
OMIM:619476 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Hypopituitarism, Delayed puberty |
OMIM:600462 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
ORPHA:309246 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Decreased response to growth hormone stimulation test, Central diabetes insipidus, Adrenocorticot... |
ORPHA:293987 |
Neuroendocrine Neoplasm Of Appendix |
|
Ovarian neoplasm, Adrenocorticotropic hormone excess, Intestinal carcinoid, Increased serum serot... |
ORPHA:100079 |
Ovarian Hyperstimulation Syndrome |
|
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... |
ORPHA:64739 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
OMIM:610978 |
Xq21 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi... |
ORPHA:1435 |
Acromelic Frontonasal Dysplasia |
|
Cryptorchidism, Hypopituitarism, Anterior pituitary hypoplasia |
ORPHA:1827 |
Carney Complex |
|
Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ovarian serous cystadenoma... |
ORPHA:1359 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response |
OMIM:609541 |
47,Xyy Syndrome |
|
Macroorchidism, Cryptorchidism, Increased circulating gonadotropin level, Increased serum testost... |
ORPHA:8 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypopituitarism, Hypothyroidism |
ORPHA:90065 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin ... |
ORPHA:2232 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Tremor, Exaggerated startle response, Truncal titubation |
OMIM:618056 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Panhypopituitarism, Decreased testicular size |
OMIM:300953 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response |
ORPHA:320406 |
Bronchial Neuroendocrine Tumor |
|
Elevated circulating growth hormone concentration, Increased circulating ACTH level, Pulmonary ca... |
ORPHA:97287 |
Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
Testicular Agenesis |
|
Vanishing testis, Increased circulating gonadotropin level, Decreased serum testosterone concentr... |
ORPHA:325124 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response |
OMIM:620114 |
Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Decreased circulating cortisol level, Decreased circulating ACTH concentratio... |
ORPHA:199299 |
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
|
Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimulation test |
OMIM:618922 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
OMIM:272750 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response |
OMIM:620327 |
Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Diabetes mellitus, Adrenal insufficiency, Delayed puberty, Hypopituitarism, H... |
ORPHA:231226 |
46,Xy Partial Gonadal Dysgenesis |
|
Decreased serum testosterone concentration, Streak ovary, Hypergonadotropic hypogonadism, Elevate... |
ORPHA:251510 |
Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response |
OMIM:616881 |
Kallmann Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... |
ORPHA:478 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response |
ORPHA:309155 |
Frontorhiny |
|
Hypopituitarism, Diabetes insipidus |
ORPHA:391474 |
Beta-Thalassemia Major |
|
Hypoparathyroidism, Diabetes mellitus, Adrenal insufficiency, Delayed puberty, Hypopituitarism, H... |
ORPHA:231214 |
Isolated Biliary Atresia |
|
Atretic gallbladder, Hypopituitarism, Bile duct proliferation, Hypothyroidism |
ORPHA:30391 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response, Dystonia |
ORPHA:438216 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response |
OMIM:617864 |
Microform Holoprosencephaly |
|
Hypothyroidism, Panhypopituitarism, Maternal diabetes |
ORPHA:280200 |
Tay-Sachs Disease |
|
Tremor, Exaggerated startle response, Laryngeal dystonia, Dystonia |
ORPHA:845 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Abnormality of the endocrine system, Cryptorchidism, Precocious puberty, Abnormality of the anter... |
ORPHA:438213 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Increased circulating gonadotropin level |
OMIM:110100 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... |
OMIM:146510 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response |
OMIM:617301 |
Sandhoff Disease |
|
Exaggerated startle response |
OMIM:268800 |
Deeah Syndrome |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... |
OMIM:619004 |
Duplication Of The Pituitary Gland |
|
Abnormal hypothalamus morphology, Abnormal pituitary gland morphology |
ORPHA:314621 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response |
OMIM:617281 |
Wiedemann-Rautenstrauch Syndrome |
|
Hyperthyroidism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ... |
ORPHA:3455 |
Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Dystonia |
ORPHA:521426 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Dystonia |
ORPHA:79255 |
Holoprosencephaly 9 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... |
OMIM:610829 |
Asparagine Synthetase Deficiency |
|
Tremor, Exaggerated startle response |
OMIM:615574 |
Acromelic Frontonasal Dysostosis |
|
Cryptorchidism, Hypopituitarism |
OMIM:603671 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response |
OMIM:253800 |
Acromegaly |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentrati... |
ORPHA:963 |
Pachydermoperiostosis |
|
Elevated circulating growth hormone concentration, Hyperhidrosis |
ORPHA:2796 |
Shwachman-Diamond Syndrome |
|
Diabetes mellitus, Decreased response to growth hormone stimulation test, Hypopituitarism, Pancre... |
ORPHA:811 |
Pallister-Hall Syndrome |
|
Thyroid hypoplasia, Adrenal hypoplasia, Precocious puberty, Cryptorchidism, Adrenocorticotropic h... |
ORPHA:672 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response |
OMIM:617527 |
Eec Syndrome |
|
Decreased response to growth hormone stimulation test, Xerostomia, Hypohidrosis, Hypoplasia of th... |
ORPHA:1896 |
Holoprosencephaly |
|
Diabetes mellitus, Cryptorchidism, Panhypopituitarism, Anterior hypopituitarism, Diabetes insipidus |
ORPHA:2162 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Streak ovary, Unilateral cryptorchidism, Bilateral cryptorchidism, Cryptorchidism, Increased circ... |
ORPHA:1772 |
Semilobar Holoprosencephaly |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... |
ORPHA:93924 |
Hartsfield Syndrome |
|
Cryptorchidism, Gonadotropin deficiency, Diabetes insipidus |
OMIM:615465 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... |
ORPHA:99413 |
Turner Syndrome |
|
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... |
ORPHA:881 |
Mosaic Monosomy X |
|
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... |
ORPHA:99228 |
Monosomy X |
|
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... |
ORPHA:99226 |
Holoprosencephaly 7 |
|
Fusion of the left and right thalami, Panhypopituitarism |
OMIM:610828 |
Charge Syndrome |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Abnormality of the adrenal glands, Delayed puberty... |
ORPHA:138 |
Pmm2-Cdg |
|
Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, Elevated circul... |
ORPHA:79318 |
Microphthalmia, Syndromic 6 |
|
Female hypogonadism, Adrenal hypoplasia, Cryptorchidism, Anterior hypopituitarism, Abnormality of... |
OMIM:607932 |
Charge Syndrome |
|
Hypoparathyroidism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
OMIM:214800 |
Peters Plus Syndrome |
|
Cryptorchidism, Anterior hypopituitarism, Congenital hypothyroidism |
ORPHA:709 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response |
OMIM:619522 |