Short Stature Due To Ghsr Deficiency |
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Decreased serum insulin-like growth factor 1, Short stature, Abnormality of body weight, Hypoglyc... |
ORPHA:314811 |
Short Stature Due To Partial Ghr Deficiency |
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Decreased serum insulin-like growth factor 1, Short stature, Hypoglycemia, Growth delay, Delayed ... |
ORPHA:314802 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
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Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemia, Hyperinsulinemic hypo... |
OMIM:601820 |
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, 4 |
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Pituitary dwarfism, Short stature, Hypoglycemia, Severe postnatal growth retardation, Adrenal ins... |
OMIM:262700 |
Leptin Deficiency Or Dysfunction |
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Hypogonadism, Polyphagia, Decreased serum leptin, Obesity |
OMIM:614962 |
Isolated Growth Hormone Deficiency, Type Ia |
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Decreased serum insulin-like growth factor 1, Severe short stature, Hypoglycemia, Growth delay, R... |
OMIM:262400 |
Body Mass Index Quantitative Trait Locus 19 |
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Insulin resistance, Hyperinsulinemia, Obesity, Increased serum leptin, Polyphagia |
OMIM:617885 |
Insulin Autoimmune Syndrome |
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Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
Hyperinsulinism Due To Hnf1A Deficiency |
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Small for gestational age, Ketotic hypoglycemia, Maturity-onset diabetes of the young, Maternal d... |
ORPHA:324575 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
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Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Child... |
ORPHA:71529 |
Obesity Due To Congenital Leptin Deficiency |
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Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
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Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Obesity Due To Leptin Receptor Gene Deficiency |
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Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
Homozygous 11P15-P14 Deletion Syndrome |
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Failure to thrive, Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
Hyperinsulinism Due To Insr Deficiency |
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Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
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Intrauterine growth retardation, Severe short stature, Hypoglycemia |
OMIM:223500 |
Trichotillomania |
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Hair-pulling, Compulsive behaviors |
OMIM:613229 |
Glycogen Storage Disease Vi |
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Postnatal growth retardation, Failure to thrive in infancy, Hypoglycemia |
OMIM:232700 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
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Nonketotic hypoglycemia, Large for gestational age, Abnormal circulating insulin concentration, H... |
ORPHA:293964 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
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Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Agitation, Pancreatic islet-cell ... |
ORPHA:276608 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
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Short stature, Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hype... |
OMIM:620211 |
Lipe-Related Familial Partial Lipodystrophy |
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Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Decreased adiponectin level, Decreas... |
ORPHA:435660 |
Akt2-Related Familial Partial Lipodystrophy |
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Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes me... |
ORPHA:79085 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
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Short stature, Small for gestational age, Hypoglycemia, Precocious puberty, Insulin-resistant dia... |
OMIM:262190 |
Cidec-Related Familial Partial Lipodystrophy |
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Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Decreased adiponectin level, Decreas... |
ORPHA:435651 |
Insulin-Resistance Syndrome Type B |
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Abnormality of body weight, Abnormal circulating leptin concentration, Insulin-resistant diabetes... |
ORPHA:2298 |
Pituitary Hormone Deficiency, Combined, 2 |
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Decreased thyroid-stimulating hormone level, Short stature, Reduced circulating prolactin concent... |
OMIM:262600 |
Lipodystrophy, Familial Partial, Type 5 |
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Diabetic ketoacidosis, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin |
OMIM:615238 |
Combined Oxidative Phosphorylation Deficiency 34 |
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Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulating thyroid-stimulating hormone co... |
OMIM:617872 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
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Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Abnormal circulating reni... |
OMIM:614736 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
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Failure to thrive in infancy, Hypoglycemia |
ORPHA:6 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
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Hyperactivity, Short stature, Small for gestational age, Hypoglycemia, Postnatal growth retardati... |
ORPHA:73272 |
Pituitary Hormone Deficiency, Combined, 6 |
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Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Short stature, Hypoglyc... |
OMIM:613986 |
Pituitary Stalk Interruption Syndrome |
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Ectopic posterior pituitary, Failure to thrive, Short stature, Hypoglycemia, Adrenal hypoplasia, ... |
ORPHA:95496 |
Mody |
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Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... |
ORPHA:552 |
Proprotein Convertase 1/3 Deficiency |
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Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... |
OMIM:600955 |
Rett Syndrome |
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Agitation, Increased serum leptin, Failure to thrive, Abnormal repetitive mannerisms, Stereotypic... |
ORPHA:778 |
Anterior Cutaneous Nerve Entrapment Syndrome |
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Allodynia, Anorexia |
ORPHA:51890 |
Polyendocrine-Polyneuropathy Syndrome |
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Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Postnatal growth reta... |
ORPHA:453533 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
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Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Diabetes melli... |
ORPHA:280365 |
Polyendocrine-Polyneuropathy Syndrome |
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Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Short stature, Hypoglycemia, Postna... |
OMIM:616113 |
Lipodystrophy, Congenital Generalized, Type 1 |
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Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Reduced intraabdominal adi... |
OMIM:608594 |
Glucocorticoid Resistance, Generalized |
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Hypoglycemia, Increased circulating ACTH level, Increased circulating cortisol level, Increased s... |
OMIM:615962 |
Lipodystrophy, Congenital Generalized, Type 2 |
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Reduced subcutaneous adipose tissue, Lipodystrophy, Reduced intraabdominal adipose tissue, Decrea... |
OMIM:269700 |
Keppen-Lubinsky Syndrome |
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Lack of facial subcutaneous fat, Decreased serum leptin, Absence of subcutaneous fat, Flexion con... |
OMIM:614098 |
Complex Regional Pain Syndrome |
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Allodynia |
ORPHA:83452 |
Atypical Werner Syndrome |
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Failure to thrive, Diabetes mellitus, Short stature, Lipoatrophy, Abnormal circulating leptin con... |
ORPHA:79474 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
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Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms |
OMIM:616393 |
Nestor-Guillermo Progeria Syndrome |
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Short stature, Lipoatrophy, Decreased serum leptin, Flexion contracture, Growth delay, Failure to... |
OMIM:614008 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
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Diabetes mellitus, Short stature, Hypoglycemia, Large for gestational age, Glycosuria |
OMIM:616026 |
Trigeminal Neuralgia |
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Allodynia |
ORPHA:221091 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
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Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Increased circulating AC... |
ORPHA:90790 |
Addison Disease |
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Hypoparathyroidism, Decreased circulating cortisol level, Salt craving, Hypoglycemia, Adrenal cal... |
ORPHA:85138 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
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Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ... |
ORPHA:226307 |
Multiple Endocrine Neoplasia, Type I |
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Subcutaneous lipoma, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentra... |
OMIM:131100 |
Neurotrophic Keratopathy |
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Allodynia |
ORPHA:137596 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
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Hair-pulling, Hyperactivity, Abnormal repetitive mannerisms, Dysphagia |
ORPHA:447997 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
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Allodynia, Dysphagia |
OMIM:603041 |
Choreoacanthocytosis |
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Self-mutilation of tongue and lips due to involuntary movements, Hyperactivity, Aggressive behavi... |
ORPHA:2388 |
Hutchinson-Gilford Progeria Syndrome |
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Female hypogonadism, Decreased serum leptin, Insulin resistance, Absence of subcutaneous fat, Wei... |
ORPHA:740 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
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Nail-biting, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious behavior, Fixated inte... |
OMIM:620330 |
Benign Schwannoma |
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Allodynia |
ORPHA:252164 |
Monosomy 22Q13.3 |
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Hair-pulling, Hyperactivity, Bruxism |
ORPHA:48652 |