Acid-Labile Subunit Deficiency |
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Decreased serum insulin-like growth factor 1, Mild postnatal growth retardation, Delayed puberty |
OMIM:615961 |
Spermatogenic Failure 15 |
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Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... |
OMIM:616950 |
Delayed Puberty, Self-Limited |
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Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... |
OMIM:619613 |
Spermatogenic Failure 2 |
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Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... |
OMIM:108420 |
Pituitary Hormone Deficiency, Combined, 2 |
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Decreased thyroid-stimulating hormone level, Short stature, Reduced circulating prolactin concent... |
OMIM:262600 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
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Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... |
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 22 With Or Without Anosmia |
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Reduced response to gonadotropin-releasing hormone stimulation test, Cryptorchidism, Primary amen... |
OMIM:616030 |
Spermatogenic Failure 77 |
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Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone |
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Congenital adrenal hypoplasia, Cryptorchidism, Decreased circulating luteinizing hormone level |
OMIM:202150 |
Spermatogenic Failure 14 |
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Male infertility, Abnormal circulating testosterone concentration, Abnormal prolactin level, Azoo... |
OMIM:615842 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
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Hypogonadotropic hypogonadism, Decreased circulating dihydrotestosterone concentration, Secondary... |
OMIM:228300 |
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
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Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve... |
OMIM:614839 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
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Cryptorchidism, Primary amenorrhea, Decreased circulating luteinizing hormone level, Decreased ci... |
OMIM:614897 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
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Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... |
OMIM:614842 |
Polyendocrine-Polyneuropathy Syndrome |
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Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Postnata... |
ORPHA:453533 |
Bdv Syndrome |
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Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... |
OMIM:619326 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
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Decreased serum insulin-like growth factor 1, Short stature, Postnatal growth retardation, Thyroi... |
OMIM:618985 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
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Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Decreased circula... |
OMIM:614837 |
Pituitary Hormone Deficiency, Combined, 6 |
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Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Short stature, Decrease... |
OMIM:613986 |
Pituitary Hormone Deficiency, Combined Or Isolated, 8 |
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Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... |
OMIM:620303 |
Short Stature, Dauber-Argente Type |
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Postnatal growth retardation, Fasting hyperinsulinemia, Short stature |
OMIM:619489 |
Kallmann Syndrome With Spastic Paraplegia |
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Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... |
OMIM:308750 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
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Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... |
OMIM:308700 |
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism |
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Hypogonadotropic hypogonadism, Cryptorchidism, Decreased circulating luteinizing hormone level, D... |
OMIM:619761 |
Polyendocrine-Polyneuropathy Syndrome |
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Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Short stature, Postnatal growth ret... |
OMIM:616113 |
Insulin-Like Growth Factor I Deficiency |
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Decreased serum insulin-like growth factor 1, Short stature, Elevated circulating growth hormone ... |
OMIM:608747 |
Late-Onset Familial Hypoaldosteronism |
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Postnatal growth retardation, Abnormal circulating corticosterone level, Elevated serum 11-deoxyc... |
ORPHA:556037 |
Early-Onset Familial Hypoaldosteronism |
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Postnatal growth retardation, Abnormal circulating corticosterone level, Elevated serum 11-deoxyc... |
ORPHA:556030 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
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Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Pituitary dwarfism, Hyp... |
ORPHA:226307 |
Meningioma |
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Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Re... |
ORPHA:2495 |