Acid-Labile Subunit Deficiency |
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Decreased serum insulin-like growth factor 1, Delayed puberty, Mild postnatal growth retardation |
OMIM:615961 |
Delayed Puberty, Self-Limited |
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Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Delayed puberty, Decre... |
OMIM:619613 |
Pituitary Hormone Deficiency, Combined, 2 |
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Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal... |
OMIM:262600 |
Spermatogenic Failure 15 |
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Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin... |
OMIM:616950 |
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome |
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Hypopituitarism, Type II diabetes mellitus, Reduced circulating growth hormone concentration, Sho... |
OMIM:620651 |
Spermatogenic Failure 2 |
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Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm... |
OMIM:108420 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
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Decreased serum estradiol, Decreased serum testosterone concentration, Hypogonadism, Reduced resp... |
OMIM:616030 |
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
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Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Primary amenorrhea, De... |
OMIM:614839 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
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Elevated circulating luteinizing hormone level, Hypogonadism, Azoospermia, Primary amenorrhea, In... |
OMIM:229070 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
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Reduced response to gonadotropin-releasing hormone stimulation test, Decreased circulating lutein... |
OMIM:619755 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
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Decreased serum estradiol, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulat... |
OMIM:614842 |
Polyendocrine-Polyneuropathy Syndrome |
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Central hypothyroidism, Decreased serum testosterone concentration, Postnatal growth retardation,... |
ORPHA:453533 |
Bdv Syndrome |
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Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Type II dia... |
OMIM:619326 |
Spermatogenic Failure 77 |
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Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Abnorma... |
OMIM:620103 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
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Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Androgen insufficienc... |
OMIM:228300 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
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Decreased serum estradiol, Decreased serum testosterone concentration, Hypogonadism, Azoospermia,... |
OMIM:614897 |
Spermatogenic Failure 14 |
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Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... |
OMIM:615842 |
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone |
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Decreased circulating luteinizing hormone level, Congenital adrenal hypoplasia |
OMIM:202150 |
Spermatogenic Failure 13 |
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Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... |
OMIM:615841 |
Pituitary Hormone Deficiency, Combined, 6 |
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Ectopic posterior pituitary, Decreased circulating ACTH concentration, Posterior pituitary hypopl... |
OMIM:613986 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
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Postnatal growth retardation, Decreased serum insulin-like growth factor 1, Delayed puberty, Shor... |
OMIM:618985 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
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Absence of pubertal development, Azoospermia, Hypogonadotropic hypogonadism, Primary amenorrhea, ... |
OMIM:614837 |
Pituitary Hormone Deficiency, Combined Or Isolated, 8 |
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Ectopic posterior pituitary, Anterior pituitary agenesis, Absent pituitary stalk, Interrupted pit... |
OMIM:620303 |
Kallmann Syndrome With Spastic Paraplegia |
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Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Leydig cel... |
OMIM:308750 |
Short Stature, Dauber-Argente Type |
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Short stature, Postnatal growth retardation, Fasting hyperinsulinemia |
OMIM:619489 |
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism |
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Intrauterine growth retardation, Hypogonadotropic hypogonadism, Delayed puberty, Decreased circul... |
OMIM:619761 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
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Decreased serum testosterone concentration, Hypothalamic gonadotropin-releasing hormone deficienc... |
OMIM:308700 |
Insulin-Like Growth Factor I Deficiency |
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Postnatal growth retardation, Intrauterine growth retardation, Decreased serum insulin-like growt... |
OMIM:608747 |
Polyendocrine-Polyneuropathy Syndrome |
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Type I diabetes mellitus, Central hypothyroidism, Postnatal growth retardation, Hypogonadotropic ... |
OMIM:616113 |
46,Xy Sex Reversal 5 |
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Abnormal circulating luteinizing hormone concentration, Elevated circulating follicle stimulating... |
OMIM:613080 |
Late-Onset Familial Hypoaldosteronism |
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Postnatal growth retardation, Decreased circulating aldosterone level, Elevated serum 11-deoxycor... |
ORPHA:556037 |
Early-Onset Familial Hypoaldosteronism |
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Postnatal growth retardation, Decreased circulating aldosterone level, Elevated serum 11-deoxycor... |
ORPHA:556030 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
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Ectopic posterior pituitary, Growth delay, Decreased thyroid-stimulating hormone level, Decreased... |
ORPHA:226307 |
Meningioma |
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Decreased serum estradiol, Secondary growth hormone deficiency, Impotence, Hypothalamic hypothyro... |
ORPHA:2495 |