Hyperinsulinemic Hypoglycemia, Familial, 5 |
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Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... |
OMIM:609968 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
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Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
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Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypo... |
OMIM:610021 |
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 |
Maturity-Onset Diabetes Of The Young, Type 10 |
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Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young |
OMIM:613370 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
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Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia |
OMIM:240900 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
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Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism |
OMIM:307500 |
Transient Neonatal Diabetes Mellitus |
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Maternal diabetes, Hypothyroidism, Hyperglycemia, Transient neonatal diabetes mellitus, Hypoinsul... |
ORPHA:99886 |
Hyperproinsulinemia |
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Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Hyperinsulinism Due To Insr Deficiency |
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Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Insulin resistan... |
ORPHA:263458 |
Proprotein Convertase 1/3 Deficiency |
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Primary amenorrhea, Reactive hypoglycemia, Hypoinsulinemia, Hypogonadotropic hypogonadism, Decrea... |
OMIM:600955 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
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Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Congenital Glucokinase-Related Hyperinsulinism |
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Recurrent hypoglycemia, Fasting hyperinsulinemia, Type II diabetes mellitus, Hyperinsulinemic hyp... |
ORPHA:79299 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
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Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:256450 |
Insulinomatosis And Diabetes Mellitus |
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Impaired glucose tolerance, Multiple pancreatic beta-cell adenomas, Insulinoma, Type II diabetes ... |
OMIM:147630 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
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Pancreatic islet-cell hyperplasia, Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
Polyendocrine-Polyneuropathy Syndrome |
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Anterior pituitary hypoplasia, Central hypothyroidism, Decreased circulating follicle stimulating... |
ORPHA:453533 |
Glycogen Storage Disease 0, Liver |
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Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia |
OMIM:240600 |
Insulin Autoimmune Syndrome |
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Fasting hypoglycemia, Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin resistance, Hyperin... |
ORPHA:411593 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
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Fasting hypoglycemia, Abnormal circulating insulin concentration, Elevated circulating thyroid-st... |
ORPHA:171706 |
Mody |
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Neonatal hypoglycemia, Abnormal circulating insulin concentration, Glycosuria, Abnormal oral gluc... |
ORPHA:552 |
Hypoglycemia, Leucine-Induced |
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Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Plin1-Related Familial Partial Lipodystrophy |
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Oligomenorrhea, Hyperinsulinemia, Infertility, Abnormal circulating hormone concentration, Insuli... |
ORPHA:280356 |
Diabetes Mellitus, Transient Neonatal, 1 |
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Hyperglycemia, Transient neonatal diabetes mellitus |
OMIM:601410 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
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Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:606762 |
Hyperinsulinism Due To Hnf1A Deficiency |
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Fasting hypoglycemia, Maternal diabetes, Neonatal hypoglycemia, Excessive insulin response to glu... |
ORPHA:324575 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
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Delayed puberty, Primary amenorrhea, Diabetes mellitus, Delayed thelarche, Hyperinsulinemic hypog... |
OMIM:616033 |
Estrogen Resistance |
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Delayed puberty, Impaired glucose tolerance, Increased circulating osteocalcin level, Primary ame... |
OMIM:615363 |
Hyperinsulinism-Hyperammonemia Syndrome |
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Fasting hyperinsulinemia, Reactive hypoglycemia, Hyperinsulinemic hypoglycemia |
ORPHA:35878 |
Lipodystrophy, Familial Partial, Type 3 |
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Oligomenorrhea, Maternal diabetes, Primary amenorrhea, Hyperinsulinemia, Hyperglycemia, Type II d... |
OMIM:604367 |
Homozygous 11P15-P14 Deletion Syndrome |
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Hypoglycemia, Hyperinsulinemia |
OMIM:606528 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
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Fasting hypoglycemia, Maternal diabetes, Excessive insulin response to glucagon test, Abnormal or... |
ORPHA:276580 |
Bdv Syndrome |
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Delayed puberty, Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Decreas... |
OMIM:619326 |
Obesity Due To Congenital Leptin Deficiency |
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Hypoplasia of the ovary, Primary amenorrhea, Hyperinsulinemia, Hypergonadotropic hypogonadism, De... |
ORPHA:66628 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
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Fasting hypoglycemia, Pancreatic islet-cell hyperplasia, Reactive hypoglycemia, Hyperinsulinemia,... |
ORPHA:276608 |
Maturity-Onset Diabetes Of The Young, Type 13 |
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Diabetes mellitus, Maternal diabetes, Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:616329 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
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Fasting hypoglycemia, Postprandial hyperglycemia, Hyperinsulinemia, Hyperglycemia, Diabetic ketoa... |
OMIM:262190 |
Obesity Due To Leptin Receptor Gene Deficiency |
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Hypoplasia of the ovary, Primary amenorrhea, Hyperinsulinemia, Hypergonadotropic hypogonadism, De... |
ORPHA:179494 |
Familial Partial Lipodystrophy, Köbberling Type |
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Diabetes mellitus, Insulin resistance, Hyperinsulinemia |
ORPHA:79084 |
Essential Fructosuria |
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Hyperglycemia |
ORPHA:2056 |
Diabetes Mellitus, Permanent Neonatal, 4 |
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Hyperglycemia, Type I diabetes mellitus, Diabetic ketoacidosis |
OMIM:618858 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
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Fasting hypoglycemia, Excessive insulin response to glucagon test, Hypoglycemic seizures, Hyperin... |
ORPHA:276575 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
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Type II diabetes mellitus, Hyperinsulinemia |
ORPHA:71529 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
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Hyperglycemia, Hyperinsulinemia |
ORPHA:329249 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
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Hypoglycemic seizures, Hyperinsulinemia, Elevated circulating thyroid-stimulating hormone concent... |
OMIM:620211 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
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Neonatal hypoglycemia, Abnormal circulating insulin concentration, Nonketotic hypoglycemia, Hypog... |
ORPHA:293964 |
Diabetes Mellitus, Permanent Neonatal, 1 |
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Diabetes mellitus, Hyperglycemia, Type I diabetes mellitus |
OMIM:606176 |
Diabetes Mellitus, Transient Neonatal, 3 |
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Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus |
OMIM:610582 |
Body Mass Index Quantitative Trait Locus 20 |
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Hyperinsulinemia |
OMIM:618406 |
Obesity And Hypopigmentation |
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Hyperinsulinemia |
OMIM:620195 |
Obesity Due To Prohormone Convertase I Deficiency |
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Delayed puberty, Central adrenal insufficiency, Decreased response to growth hormone stimulation ... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
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Delayed puberty, Central adrenal insufficiency, Decreased response to growth hormone stimulation ... |
ORPHA:71526 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
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Secondary amenorrhea, Type II diabetes mellitus, Hyperinsulinemia, Hypergonadotropic hypogonadism |
ORPHA:3085 |
Diabetes Mellitus, Permanent Neonatal, 2 |
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Hyperglycemia, Type I diabetes mellitus |
OMIM:618856 |
Type 1 Diabetes Mellitus |
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Diabetes mellitus, Hyperglycemia |
OMIM:222100 |
Body Mass Index Quantitative Trait Locus 19 |
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Insulin resistance, Hyperinsulinemia, Increased serum leptin |
OMIM:617885 |
Estrogen Resistance Syndrome |
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Primary amenorrhea, Hyperinsulinemia, Glucose intolerance, Abnormality of the adrenal glands, Abs... |
ORPHA:785 |
Retinitis Pigmentosa |
|
Type II diabetes mellitus, Hypogonadism, Hyperinsulinemia |
ORPHA:791 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
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Hyperglycemia |
OMIM:618970 |
Insulinoma |
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Pituitary prolactin cell adenoma, Recurrent hypoglycemia, Fasting hyperinsulinemia, Reactive hypo... |
ORPHA:97279 |
Familial Renal Glucosuria |
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Abnormal circulating insulin concentration, Glycosuria, Abnormal oral glucose tolerance, Hypergly... |
ORPHA:69076 |
Obesity Due To Sim1 Deficiency |
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Glucose intolerance, Hyperinsulinemia |
ORPHA:369873 |
Hyperinsulinism Due To Ucp2 Deficiency |
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Excessive insulin response to glucagon test, Recurrent hypoglycemia, Reactive hypoglycemia, Hypog... |
ORPHA:276556 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
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Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:609812 |
Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
Solitary Fibrous Tumor |
|
Hypoinsulinemia, Recurrent hypoglycemia, Hypoglycemia |
ORPHA:2126 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
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Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Multiple pancreatic bet... |
ORPHA:79644 |
Galactokinase Deficiency |
|
Premature ovarian insufficiency, Hypoglycemia, Hyperinsulinemia, Hypergonadotropic hypogonadism |
ORPHA:79237 |
Diabetes Mellitus, Permanent Neonatal, 3 |
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Hyperglycemia, Type I diabetes mellitus, Glycosuria |
OMIM:618857 |
Bangstad Syndrome |
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Primary gonadal insufficiency, Increased circulating cortisol level, Abnormality of the parathyro... |
ORPHA:1227 |
Tenorio Syndrome |
|
Hypoinsulinemia, Hypoglycemia |
OMIM:616260 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased circulating cortisol level, Decreased circulating ACTH level, Hyperglycemia, Macronodul... |
OMIM:615954 |
Insulin-Resistance Syndrome Type B |
|
Fasting hypoglycemia, Increased serum testosterone level, Glycosuria, Postprandial hyperglycemia,... |
ORPHA:2298 |
Congenital Generalized Lipodystrophy |
|
Oligomenorrhea, Diabetes mellitus, Precocious puberty in females, Hyperinsulinemia, Insulin resis... |
ORPHA:528 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia |
ORPHA:66518 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Fasting hypoglycemia, Neonatal hypoglycemia, Glycosuria, Pancreatic islet-cell hyperplasia, Hyper... |
ORPHA:263455 |
X-Linked Acrogigantism |
|
Delayed puberty, Hypopituitarism, Elevated circulating growth hormone concentration, Hypogonadism... |
ORPHA:300373 |
Perlman Syndrome |
|
Hyperinsulinemia |
ORPHA:2849 |
Donohue Syndrome |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulin... |
OMIM:246200 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Insulin resistance, Hyperinsulinemia |
ORPHA:363400 |
Multiple Endocrine Neoplasia Type 4 |
|
Thymoma, Parathyroid carcinoma, Adrenocortical adenoma, Hyperparathyroidism, Increased circulatin... |
ORPHA:276152 |
Alstrom Syndrome |
|
Multinodular goiter, Diabetes insipidus, Decreased response to growth hormone stimulation test, H... |
OMIM:203800 |
Dopamine Beta-Hydroxylase Deficiency |
|
Insulin resistance, Hypoglycemia, Retrograde ejaculation, Hyperinsulinemia |
ORPHA:230 |
Woodhouse-Sakati Syndrome |
|
Delayed puberty, Premature ovarian insufficiency, Hypogonadism, Decreased response to growth horm... |
ORPHA:3464 |
Mandibuloacral Dysplasia |
|
Insulin resistance, Glucose intolerance, Insulin-resistant diabetes mellitus, Hyperinsulinemia |
ORPHA:2457 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperglycemia, Glucose intolerance, Insulin-resistant diabetes mellitus, Hyperinsulinemia |
OMIM:608612 |
Prader-Willi Syndrome |
|
Oligomenorrhea, Delayed puberty, Primary amenorrhea, Decreased response to growth hormone stimula... |
OMIM:176270 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:615812 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hyperglycemia, Insulin-resistant diabetes mellitus, Type II diabetes mellitus, Hyperinsulinemia |
OMIM:151660 |
Acquired Generalized Lipodystrophy |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia |
ORPHA:79086 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperglycemia, Insulin-resistant diabetes mellitus, Impaired glucose tolerance, Hyperinsulinemia |
OMIM:248370 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Decreased fertility in females, Hyperinsulinemia, Decreased fertility, Type II diabetes mellitus,... |
OMIM:269700 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Decreased fertility in females, Diabetes mellitus, Hyperinsulinemia, Decreased serum leptin, Insu... |
OMIM:608594 |
Atypical Werner Syndrome |
|
Neoplasm of the thyroid gland, Delayed puberty, Premature ovarian insufficiency, Hypogonadism, Gl... |
ORPHA:79474 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Insulin resistance, Hyperinsulinemia |
OMIM:613327 |
Leprechaunism |
|
Fasting hypoglycemia, Hyperaldosteronism, Increased circulating renin level, Central hypothyroidi... |
ORPHA:508 |
Steinert Myotonic Dystrophy |
|
Secondary hyperparathyroidism, Testicular atrophy, Decreased serum testosterone concentration, Di... |
ORPHA:273 |
Atelis Syndrome 2 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia |
OMIM:620185 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Delayed puberty, Premature ovarian insufficiency, Primary amenorrhea, Hashimoto thyroiditis, High... |
ORPHA:99413 |
Turner Syndrome |
|
Delayed puberty, Premature ovarian insufficiency, Primary amenorrhea, Hashimoto thyroiditis, High... |
ORPHA:881 |
Mosaic Monosomy X |
|
Delayed puberty, Premature ovarian insufficiency, Primary amenorrhea, Hashimoto thyroiditis, High... |
ORPHA:99228 |
Monosomy X |
|
Delayed puberty, Premature ovarian insufficiency, Primary amenorrhea, Hashimoto thyroiditis, High... |
ORPHA:99226 |
Alström Syndrome |
|
Precocious puberty in females, Decreased response to growth hormone stimulation test, Hyperinsuli... |
ORPHA:64 |
Pmm2-Cdg |
|
Elevated circulating growth hormone concentration, Increased circulating prolactin concentration,... |
ORPHA:79318 |