Post-Traumatic Pituitary Deficiency |
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Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c... |
ORPHA:95619 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
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Hypogonadotropic hypogonadism, Sparse axillary hair, Sparse pubic hair, Decreased circulating dih... |
OMIM:228300 |
Pituitary Hormone Deficiency, Combined, 2 |
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Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... |
OMIM:262600 |
Hyperprolactinemia |
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Female infertility, Menorrhagia, Oligomenorrhea, Increased circulating prolactin concentration |
OMIM:615555 |
Pituitary Dermoid And Epidermoid Cysts |
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Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... |
ORPHA:91351 |
Pituitary Carcinoma |
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Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... |
ORPHA:300385 |
Polyendocrine-Polyneuropathy Syndrome |
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Hypoinsulinemia, Alopecia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decrease... |
ORPHA:453533 |
Prolactin Deficiency, Isolated |
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Irregular menstruation, Infertility, Reduced circulating prolactin concentration |
OMIM:264110 |
X-Linked Acrogigantism |
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Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Elevated circulating growt... |
ORPHA:300373 |
Spermatogenic Failure 14 |
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Male infertility, Abnormal prolactin level, Abnormal circulating testosterone concentration, Azoo... |
OMIM:615842 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
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Reduced response to gonadotropin-releasing hormone stimulation test, Cryptorchidism, Primary amen... |
OMIM:616030 |
Functioning Gonadotropic Adenoma |
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Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... |
ORPHA:91348 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
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Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Decreased circulating luteiniz... |
OMIM:614837 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
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Cryptorchidism, Primary amenorrhea, Decreased circulating luteinizing hormone level, Decreased ci... |
OMIM:614897 |
Pituicytoma |
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Decreased serum testosterone concentration, Decreased female libido, Pituicytoma, Decreased respo... |
ORPHA:251623 |
Spermatogenic Failure, X-Linked, 4 |
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Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... |
OMIM:301077 |
Non-Functioning Pituitary Adenoma |
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Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
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Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... |
ORPHA:2235 |
Gangliocytoma |
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Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent... |
ORPHA:251937 |
Kallmann Syndrome With Spastic Paraplegia |
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Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Sparse pub... |
OMIM:308750 |
Adenohypophysitis |
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Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... |
ORPHA:95512 |
Tsh-Secreting Pituitary Adenoma |
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Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... |
ORPHA:91347 |
Panhypophysitis |
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Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... |
ORPHA:95513 |
Isolated Growth Hormone Deficiency, Type Ib |
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Micropenis, Reduced circulating growth hormone concentration, Decreased response to growth hormon... |
OMIM:612781 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
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Hypothalamic gonadotropin-releasing hormone deficiency, Small scrotum, Hypogonadotropic hypogonad... |
OMIM:308700 |
Spermatogenic Failure 77 |
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Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
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Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... |
OMIM:229070 |
Meningioma |
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Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th... |
ORPHA:2495 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
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Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Sec... |
ORPHA:91350 |
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
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Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Small pituitary gland, Delayed... |
OMIM:612702 |
Delayed Puberty, Self-Limited |
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Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... |
OMIM:619613 |
Ane Syndrome |
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Decreased serum insulin-like growth factor 1, Alopecia, Hypogonadotropic hypogonadism, Anterior p... |
ORPHA:157954 |
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone |
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Congenital adrenal hypoplasia, Cryptorchidism, Micropenis, Decreased circulating luteinizing horm... |
OMIM:202150 |
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
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Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve... |
OMIM:614839 |
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 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
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Cryptorchidism, Primary amenorrhea, Small pituitary gland, Micropenis, Decreased testicular size |
OMIM:614880 |
Pituitary Hormone Deficiency, Combined Or Isolated, 8 |
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Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... |
OMIM:620303 |
Hypothyroidism, Central, With Testicular Enlargement |
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Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Inappropriately normal t... |
OMIM:300888 |
Sheehan Syndrome |
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Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ... |
ORPHA:91355 |
Craniopharyngioma |
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Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu... |
ORPHA:54595 |
Premature Ovarian Failure 1 |
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Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation |
OMIM:311360 |
Non-Acquired Panhypopituitarism |
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Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:90695 |
Pituitary Hormone Deficiency, Combined, 6 |
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Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased circulating A... |
OMIM:613986 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
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Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... |
OMIM:614842 |
Pituitary Adenoma 1, Multiple Types |
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Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc... |
OMIM:102200 |
Ovarian Dysgenesis 1 |
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Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea |
OMIM:233300 |
Spermatogenic Failure 15 |
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Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... |
OMIM:616950 |
Prolactin Deficiency With Obesity And Enlarged Testes |
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Macroorchidism, Reduced circulating prolactin concentration |
OMIM:264120 |
Growth Hormone Deficiency, Isolated Partial |
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Small pituitary gland, Decreased response to growth hormone stimulation test |
OMIM:615925 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
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Decreased thyroid-stimulating hormone level, Anterior pituitary hypoplasia, Reduced circulating p... |
OMIM:613038 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
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Alopecia, Hypogonadotropic hypogonadism, Central adrenal insufficiency, Small pituitary gland, De... |
OMIM:612079 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
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Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... |
ORPHA:226307 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
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Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... |
ORPHA:399805 |
Premature Ovarian Failure 20 |
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Secondary amenorrhea, Female infertility, Elevated circulating follicle stimulating hormone level... |
OMIM:619938 |
Premature Ovarian Failure 6 |
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Premature ovarian insufficiency, Streak ovary, Female infertility, Elevated circulating luteinizi... |
OMIM:612310 |
Premature Ovarian Failure 2B |
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Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty |
OMIM:300604 |
Premature Ovarian Failure 13 |
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Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... |
OMIM:617442 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
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Sparse facial hair, Decreased serum estradiol, Aplasia of the ovary, Aplasia/hypoplasia of the ut... |
ORPHA:2232 |
Spermatogenic Failure 2 |
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Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... |
OMIM:108420 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
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Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of secondary se... |
ORPHA:2410 |
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism |
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Hypogonadotropic hypogonadism, Cryptorchidism, Decreased circulating luteinizing hormone level, D... |
OMIM:619761 |
Isolated Follicle Stimulating Hormone Deficiency |
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Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... |
ORPHA:52901 |
Ovarian Dysgenesis 4 |
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Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Primary ameno... |
OMIM:616185 |
Pituitary Apoplexy |
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Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... |
ORPHA:95613 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
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Decreased circulating follicle stimulating hormone concentration, Reduced response to gonadotropi... |
OMIM:619755 |
Premature Ovarian Failure 17 |
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Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Decreased inhibi... |
OMIM:619146 |
Premature Ovarian Failure 15 |
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Irregular menstruation, Secondary amenorrhea, Elevated circulating follicle stimulating hormone l... |
OMIM:618096 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
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Reduced circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone con... |
ORPHA:99832 |
Ovarian Dysgenesis 7 |
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Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... |
OMIM:618117 |
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 |
Premature Ovarian Failure 16 |
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Reduced antral follicle count, Premature ovarian insufficiency, Decreased serum estradiol, Elevat... |
OMIM:618723 |
Non-Acquired Isolated Growth Hormone Deficiency |
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Anterior hypopituitarism |
ORPHA:631 |
Ovarian Dysgenesis 9 |
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Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:619665 |
Bdv Syndrome |
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Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... |
OMIM:619326 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
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Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:95494 |
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 |
46,Xy Sex Reversal 11 |
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Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Primary amenorrhea, ... |
OMIM:273250 |
Ovarian Dysgenesis 3 |
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Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... |
OMIM:614324 |
Premature Ovarian Failure 7 |
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Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... |
OMIM:612964 |
Androgen Insensitivity Syndrome |
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Absent facial hair, Elevated circulating luteinizing hormone level, Sparse axillary hair, Sparse ... |
OMIM:300068 |
Pituitary Dwarfism With Large Sella Turcica |
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Hypothyroidism, Decreased response to growth hormone stimulation test |
OMIM:262710 |
Leydig Cell Hypoplasia, Type I |
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Increased circulating gonadotropin level, Hypergonadotropic hypogonadism |
OMIM:238320 |
Female Infertility Due To Oocyte Meiotic Arrest |
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Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... |
ORPHA:488191 |
Ovarian Dysgenesis 5 |
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Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... |
OMIM:617690 |
Oliver-Mcfarlane Syndrome |
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Hypoplasia of penis, Alopecia, Hypogonadotropic hypogonadism, Decreased response to growth hormon... |
OMIM:275400 |
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism |
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Hypothyroidism, Panhypopituitarism, Decreased response to growth hormone stimulation test |
OMIM:300123 |
Ovarian Dysgenesis 10 |
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Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:619834 |
Leydig Cell Hypoplasia |
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Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... |
ORPHA:755 |
Premature Ovarian Failure 18 |
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Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... |
OMIM:619203 |
Endocardial Fibroelastosis |
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Cryptorchidism, Anterior hypopituitarism, Hypoplasia of penis |
ORPHA:2022 |
Panhypopituitarism, X-Linked |
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Panhypopituitarism |
OMIM:312000 |
Prolactinoma |
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Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed puberty, ... |
ORPHA:2965 |
Premature Ovarian Failure 8 |
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Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:615723 |
Premature Ovarian Failure 2A |
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Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... |
OMIM:300511 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
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Alopecia, Decreased response to growth hormone stimulation test, Cryptorchidism, Hypogonadism, Lo... |
ORPHA:3363 |
Sim1-Related Prader-Willi-Like Syndrome |
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Small scrotum, External genital hypoplasia, Xerostomia, Clitoral hypoplasia, Premature adrenarche... |
ORPHA:398079 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Central hypothyroidism, Abnormal th... |
OMIM:616113 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
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Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... |
ORPHA:168563 |
Premature Ovarian Failure 14 |
|
Primary amenorrhea, Decreased serum estradiol, Elevated circulating follicle stimulating hormone ... |
OMIM:618014 |
46,Xy Sex Reversal 1 |
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Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... |
OMIM:400044 |
Perrault Syndrome 1 |
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Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea |
OMIM:233400 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
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Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... |
ORPHA:399808 |
Prader-Willi Syndrome |
|
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... |
ORPHA:739 |
46,Xx Gonadal Dysgenesis |
|
Streak ovary, Premature ovarian insufficiency, Sparse pubic hair, Increased circulating gonadotro... |
ORPHA:243 |
Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612885 |
Joubert Syndrome 26 |
|
Micropenis, Panhypopituitarism, Decreased response to growth hormone stimulation test, Central hy... |
OMIM:616784 |
Obesity Due To Prohormone Convertase I Deficiency |
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Decreased response to growth hormone stimulation test, Hyperinsulinemia, Gonadotropin deficiency,... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Gonadotropin deficiency,... |
ORPHA:71526 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
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Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Premature Ovarian Failure 11 |
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Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Oligomenorrhea |
OMIM:616946 |
Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
Ovarian Dysgenesis 8 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplastic labia majora, Dec... |
OMIM:618187 |
Hypogonadism-Cataract Syndrome |
|
Infertility, Male hypogonadism, Hypogonadism, Elevated circulating follicle stimulating hormone l... |
OMIM:240950 |
Orthostatic Hypotension 1 |
|
Retrograde ejaculation, Reduced circulating prolactin concentration |
OMIM:223360 |
Complete Androgen Insensitivity Syndrome |
|
Bilateral cryptorchidism, Absent pubic hair, Blind vagina, Increased circulating antimullerian ho... |
ORPHA:99429 |
Cog2-Cdg |
|
Small pituitary gland, Decreased liver function |
ORPHA:435934 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Absent pubic hair,... |
ORPHA:90793 |
Congenital Disorder Of Glycosylation, Type Iiq |
|
Elevated hepatic transaminase, Small pituitary gland |
OMIM:617395 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Micropenis, Decreased circulat... |
OMIM:614841 |
Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... |
OMIM:619949 |
Developmental And Epileptic Encephalopathy 108 |
|
Small pituitary gland |
OMIM:620115 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Primary amenorrhe... |
OMIM:614840 |
Pituitary Gigantism |
|
Premature pubarche, Elevated circulating growth hormone concentration, Hyperhidrosis, Increased c... |
ORPHA:99725 |
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Adrenocorti... |
ORPHA:231720 |
Estrogen Resistance Syndrome |
|
Abnormality of the pubic hair, Enlarged polycystic ovaries, Increased circulating gonadotropin le... |
ORPHA:785 |
Ring Chromosome Y Syndrome |
|
Male infertility, Bifid scrotum, Ambiguous genitalia, Streak ovary, Unilateral cryptorchidism, Hy... |
ORPHA:261529 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l... |
OMIM:301033 |
Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ... |
OMIM:615300 |
Premature Ovarian Failure 21 |
|
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... |
OMIM:620311 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Cryptorchidism, Increased circulating gonadotropin level, Hypogonadism, Sparse body hair, Decreas... |
OMIM:300869 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
Bonnemann-Meinecke-Reich Syndrome |
|
Decreased response to growth hormone stimulation test |
ORPHA:1261 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ovaries, Insulin-resista... |
ORPHA:280356 |
Pseudohypoparathyroidism Type 1C |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... |
ORPHA:79444 |
Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... |
OMIM:615724 |
Pituitary Hormone Deficiency, Combined, 3 |
|
Anterior hypopituitarism, Gonadotropin deficiency, Decreased response to growth hormone stimulati... |
OMIM:221750 |
X-Linked Intellectual Disability, Van Esch Type |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... |
ORPHA:163976 |
Culler-Jones Syndrome |
|
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Cryptorchidism, Micropenis, Hypogonad... |
OMIM:615849 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
ORPHA:98754 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
Frasier Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Male pseu... |
ORPHA:347 |
Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... |
OMIM:614129 |
Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Lack of oocyte pronucleus formation, Female infertility |
OMIM:617996 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Highly arched eyebrow, Sparse pubic hair, In... |
OMIM:110100 |
Polyembryoma |
|
Abnormal peritoneum morphology, Abnormal circulating gonadotropin concentration, Neoplasm of head... |
ORPHA:180229 |
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
|
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Decreased response to ... |
ORPHA:67045 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
ORPHA:98793 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
ORPHA:177904 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
ORPHA:177901 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia |
OMIM:618160 |
Septooptic Dysplasia |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Anterior pituitary hyp... |
OMIM:182230 |
Familial Hyperprolactinemia |
|
Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea |
ORPHA:397685 |
X-Linked Intellectual Disability, Cilliers Type |
|
Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Increased circulating gonadotropin l... |
ORPHA:163971 |
Laryngeal Neuroendocrine Tumor |
|
Neoplasm of the larynx, Adrenocorticotropic hormone excess, Increased serum serotonin, Elevated c... |
ORPHA:100083 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Premature pubarche, Small scrotum, Hypopigmentation of hair, External genital hypoplasia, Precoci... |
ORPHA:398069 |
Leptin Receptor Deficiency |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
OMIM:614963 |
Joubert Syndrome 38 |
|
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Small pituitary gland,... |
OMIM:619476 |
Leptin Deficiency Or Dysfunction |
|
Decreased serum leptin, Primary amenorrhea, Hypogonadism, Micropenis, Decreased testicular size |
OMIM:614962 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... |
ORPHA:90797 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Ovari... |
ORPHA:251510 |
Asherman Syndrome |
|
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... |
ORPHA:137686 |
Gordon Holmes Syndrome |
|
Hypogonadotropic hypogonadism, Secondary amenorrhea, Absence of pubertal development, Primary ame... |
OMIM:212840 |
Pheochromocytoma/Paraganglioma Syndrome 6 |
|
Elevated circulating catecholamine level, Paraganglioma |
OMIM:618464 |
49,Xxxyy Syndrome |
|
External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l... |
ORPHA:261534 |
Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Female infertility, Goiter |
OMIM:617577 |
Kallmann Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Hypogon... |
ORPHA:478 |
Pseudohypoparathyroidism Type 1A |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... |
ORPHA:79443 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Gonadal dysgenesis, Hypergonadotropic hypogonadism, Primary amenorrhea |
OMIM:607080 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Pituitary Stalk Interruption Syndrome |
|
Ectopic posterior pituitary, Hypoplasia of penis, Adrenal hypoplasia, Cryptorchidism, Hypothyroid... |
ORPHA:95496 |
Mehmo Syndrome |
|
Male hypogonadism, Micropenis, Decreased response to growth hormone stimulation test, Delayed pub... |
OMIM:300148 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Alopecia, Dec... |
ORPHA:293978 |
Ovarian Fibrothecoma |
|
Diffuse leiomyomatosis, Ovarian fibroma, Metrorrhagia, Peritonitis, Abnormal circulating hormone ... |
ORPHA:314478 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Primary amenorrhea, Micro... |
OMIM:618841 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Sparse axillary hair, Sparse pubic hair, Cryptorchidism, Primary a... |
OMIM:146110 |
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism |
|
Anterior pituitary hypoplasia, Synophrys, Pituitary hypothyroidism, Long eyelashes, Micropenis, H... |
OMIM:619983 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Cryptorchidism, Anterior hypopituitarism, Long eyelashes, Midshaft hypospadias |
ORPHA:2863 |
Webb-Dattani Syndrome |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... |
OMIM:615926 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Dysmenorrhea, Decreased serum estradiol, Decreased circulating androgen... |
ORPHA:90796 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Hypohidrosis, Sparse hair, Type I diabetes mellitus, Anterior hypopituitarism, Sparse body hair, ... |
ORPHA:181 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
Rhyns Syndrome |
|
Hypopituitarism, Abnormality of the liver |
ORPHA:140976 |
Kearns-Sayre Syndrome |
|
Anterior hypopituitarism |
ORPHA:480 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... |
OMIM:609734 |
Septo-Optic Dysplasia Spectrum |
|
Hypoplasia of penis, Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchidism, Hypohidros... |
ORPHA:3157 |
Isolated Splenogonadal Fusion |
|
Abnormal penis morphology, Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circula... |
ORPHA:457083 |
Cortisone Reductase Deficiency 1 |
|
Alopecia, Precocious puberty, Infertility, Oligomenorrhea, Hirsutism |
OMIM:604931 |
Acth Deficiency, Isolated |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Adrenocorticotropic hormone deficiency,... |
OMIM:201400 |
49,Xyyyy Syndrome |
|
External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l... |
ORPHA:99330 |
Hypertriglyceridemia 1 |
|
Hypopituitarism |
OMIM:145750 |
Temple Syndrome |
|
Precocious puberty, Cryptorchidism, Type II diabetes mellitus, Decreased response to growth hormo... |
ORPHA:254516 |
Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... |
OMIM:300845 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Elevated circulati... |
ORPHA:572333 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mel... |
ORPHA:79085 |
Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Premature ovarian insufficiency, Secondary amenorrhea, Goiter |
OMIM:617175 |
Chromosome Xq26.3 Duplication Syndrome |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Hyperhidrosis, Increased ci... |
OMIM:300942 |
Classic Galactosemia |
|
Male infertility, Hepatomegaly, Decreased serum insulin-like growth factor 1, Premature ovarian i... |
ORPHA:79239 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypospadias, Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Cryptorch... |
OMIM:614732 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Premature ... |
ORPHA:280679 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mel... |
ORPHA:435651 |
Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Primary amenorrhea, Pol... |
OMIM:604367 |
Glucocorticoid Resistance, Generalized |
|
Irregular menstruation, Increased circulating ACTH level, Increased circulating cortisol level, I... |
OMIM:615962 |
47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... |
ORPHA:8 |
Acromelic Frontonasal Dysplasia |
|
Cryptorchidism, Hypopituitarism, Anterior pituitary hypoplasia, Midline central nervous system li... |
ORPHA:1827 |
Giant Axonal Neuropathy |
|
Woolly hair, Abnormal pituitary gland morphology, Pili canaliculi |
ORPHA:643 |
Multiple Endocrine Neoplasia, Type I |
|
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Pituitary adeno... |
OMIM:131100 |
4H Leukodystrophy |
|
Abnormality of thyroid physiology, Hypogonadotropic hypogonadism, Decreased response to growth ho... |
ORPHA:289494 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Primary ame... |
OMIM:615363 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Small pituitary gland |
OMIM:614195 |
Septopreoptic Holoprosencephaly |
|
Precocious puberty, Anterior hypopituitarism, Central diabetes insipidus |
ORPHA:280195 |
Boucher-Neuhauser Syndrome |
|
Decreased circulating gonadotropin concentration, Hypogonadotropic hypogonadism |
OMIM:215470 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Hepatic steatosis, Alopecia, Abnormal response to corticotropin... |
ORPHA:189427 |
Pure Autonomic Failure |
|
Anhidrosis, Abnormality of circulating catecholamine level, Impotence |
ORPHA:441 |
African Trypanosomiasis |
|
Hepatomegaly, Alopecia, Abnormality of the menstrual cycle, Abnormality of the endocrine system, ... |
ORPHA:3385 |
Ovarian Dysgenesis 2 |
|
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Primary amenorrhea... |
OMIM:300510 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Hepatic steatosis, Alopecia, Chronic active hepatitis, Hypergonado... |
OMIM:203800 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Azoospermia, Infertility, Cirrhosis, A... |
OMIM:602390 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... |
OMIM:168000 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Extraadrenal pheochromocytoma, Chemodectoma, Adrenal pheochromocytoma, Glomus jugular tumor, Hype... |
OMIM:605373 |
Precocious Puberty, Central, 1 |
|
Hypothyroidism, Isosexual precocious puberty, Elevated circulating follicle stimulating hormone l... |
OMIM:176400 |
Fg Syndrome Type 1 |
|
Cryptorchidism, Frontal upsweep of hair, Hypospadias, Small pituitary gland |
ORPHA:93932 |
Xp22.3 Microdeletion Syndrome |
|
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries |
ORPHA:1643 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Irregular menstruation, Diabet... |
OMIM:615238 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Elevated circulating luteinizing hormone level, Sparse pubic hair, Breast aplasia, Elevated circu... |
ORPHA:3044 |
Triple A Syndrome |
|
Anterior hypopituitarism, Adrenal insufficiency |
ORPHA:869 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Brittle hair, Slow-growing hair, Sparse eyebrow, Tiger tail banding, Reduced hair sulfur content,... |
OMIM:300953 |
Rhyns Syndrome |
|
Anterior hypopituitarism, Pituitary hypothyroidism, Decreased response to growth hormone stimulat... |
OMIM:602152 |
Boomerang Dysplasia |
|
Cryptorchidism, Decreased response to growth hormone stimulation test |
ORPHA:1263 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mel... |
ORPHA:435660 |
Mccune-Albright Syndrome |
|
Hyperthyroidism, Precocious puberty, Hepatitis, Ovarian cyst, Increased circulating cortisol leve... |
ORPHA:562 |
Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Decreased circulating cortisol level, Premature ovarian insufficiency, Pituit... |
ORPHA:199299 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... |
ORPHA:432 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Ambiguous genitalia, female, Increased circulating renin le... |
ORPHA:90791 |
Perrault Syndrome 6 |
|
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim... |
OMIM:617565 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Angiofibromas, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemi... |
ORPHA:276152 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in females,... |
ORPHA:528 |
Nelson Syndrome |
|
Increased urinary cortisol level, Testicular neoplasm, Pituitary corticotropic cell adenoma, Adre... |
ORPHA:199244 |
Myasthenic Syndrome, Congenital, 22 |
|
Decreased response to growth hormone stimulation test |
OMIM:616224 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of ... |
OMIM:610628 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone... |
ORPHA:85327 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Secondary amenorrhea, Hypogonadism, He... |
OMIM:613313 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Decreased response to growth hormone stimulation test |
OMIM:245590 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Premature ovarian insufficiency, Hypospadias, Decreased response to growth hormone stimulation te... |
ORPHA:96179 |
Hidrotic Ectodermal Dysplasia, Halal Type |
|
Sparse scalp hair, Absent eyebrow, Supernumerary nipple, Absent eyelashes, Irregular menstruation... |
ORPHA:1809 |
Woodhouse-Sakati Syndrome |
|
Alopecia, Streak ovary, Premature ovarian insufficiency, Decreased response to growth hormone sti... |
ORPHA:3464 |
Deeah Syndrome |
|
Hepatomegaly, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasi... |
OMIM:619004 |
Pallister-Hall Syndrome |
|
Small scrotum, Adrenal hypoplasia, Gonadotropin deficiency, Micropenis, Aplasia/hypoplasia of the... |
ORPHA:672 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature thelarche, Ambiguous genitalia, female, Premature... |
ORPHA:90795 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Diabetes mellitus, Hypogonadotropic hypogo... |
OMIM:235200 |
46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... |
OMIM:612965 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Elevated hepatic transaminase, Hypothyroidism, Hepatosplenomegaly, Hypopituitarism, Hepatic steat... |
OMIM:619013 |
Silver-Russell Syndrome 1 |
|
Hypospadias, Decreased response to growth hormone stimulation test, Craniopharyngioma, Hepatocell... |
OMIM:180860 |
Pallister-Hall-Like Syndrome |
|
Anterior hypopituitarism, Glioma, Hypothalamic hamartoma, Micropenis |
OMIM:241800 |
Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Oligomenorrhea, Hirsutism, Amenorrhea |
OMIM:184700 |
Methemoglobinemia And Ambiguous Genitalia |
|
Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ... |
OMIM:250790 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Decreased response to growth hormone stimulation test |
OMIM:615286 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Diabetes mellitus, Splenomegaly, Primary amenorrhea, Hepatosplenomegaly, Hepatic st... |
OMIM:612526 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Male pseudohermaphroditism, Adrenogenital syndrome, Primary amenorrhea, Ambi... |
OMIM:202110 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Unilateral cryptorchidism, Anterior pituitary hypoplasia, Bilateral cryptorchidism, Cryptorchidis... |
OMIM:613457 |
Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... |
ORPHA:325124 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea |
OMIM:614858 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Diabetes mellitus, Dysmenorrhea, Maternal diabetes, Splenomegaly, Insulin-resistant... |
ORPHA:79083 |
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis |
|
Abnormal hair morphology, Hypoplasia of penis, Decreased response to growth hormone stimulation t... |
OMIM:601427 |
Hypotonia-Cystinuria Syndrome |
|
Long eyelashes, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation ... |
OMIM:606407 |
Acromesomelic Dysplasia 3 |
|
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe... |
OMIM:609441 |
Thymic Neuroendocrine Tumor |
|
Pituitary null cell adenoma, Pancreatic islet cell adenoma, Neoplasm of the thymus, Pituitary ade... |
ORPHA:97289 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Decreased testicular size, Micropenis, Decreased response to growth hormone stimulation test |
ORPHA:457240 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Increased circulating ren... |
ORPHA:168558 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, In... |
ORPHA:289548 |
Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pitui... |
ORPHA:64744 |
Juberg-Hayward Syndrome |
|
Decreased response to growth hormone stimulation test, Highly arched eyebrow |
OMIM:216100 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Frontal balding, Precocious puberty, Incre... |
ORPHA:786 |
Premature Ovarian Failure 5 |
|
Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas... |
OMIM:611548 |
Noonan Syndrome 12 |
|
Glabellar hemangioma, Decreased response to growth hormone stimulation test |
OMIM:618624 |
Hemochromatosis, Type 3 |
|
Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Impotence, Cirrhosis, Amenorrhea |
OMIM:604250 |
Pituitary Adenoma 2, Growth Hormone-Secreting |
|
Pituitary adenoma, Elevated circulating growth hormone concentration |
OMIM:300943 |
Ovarian Dysgenesis 6 |
|
Absence of pubertal development, Hypergonadotropic hypogonadism, Primary amenorrhea, Hypoplasia o... |
OMIM:618078 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ... |
OMIM:241410 |
Lipodystrophy, Familial Partial, Type 4 |
|
Insulin-resistant diabetes mellitus, Hepatic steatosis, Oligomenorrhea |
OMIM:613877 |
Müllerian Aplasia And Hyperandrogenism |
|
Thick eyebrow, Frontal balding, Synophrys, Primary amenorrhea, Hypoplasia of the uterus, Facial h... |
ORPHA:247768 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Micropenis, Hypospadias, Small pituitary gland, Hypertrichosis |
OMIM:619479 |
Pituitary Adenoma 4, Acth-Secreting |
|
Pituitary adenoma, Increased circulating ACTH level, Hirsutism, Oligomenorrhea |
OMIM:219090 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Alopecia, Brittle hair, Abnormality of the anterior pituitary, Coarse hair, Posterior pituitary h... |
ORPHA:75389 |
Williams-Beuren Region Duplication Syndrome |
|
Cryptorchidism, Long eyelashes, Decreased response to growth hormone stimulation test, Horizontal... |
OMIM:609757 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert... |
ORPHA:465508 |
Galloway-Mowat Syndrome 6 |
|
Hypothyroidism, Decreased response to growth hormone stimulation test |
OMIM:618347 |
46,Xx Sex Reversal 1 |
|
True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, Ovotestis, Sex... |
OMIM:400045 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency |
|
Hypospadias, Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, T-c... |
OMIM:618336 |
Carney Complex, Type 1 |
|
Elevated circulating growth hormone concentration, Cardiac myxoma, Pituitary adenoma, Palatine my... |
OMIM:160980 |
Multiple Endocrine Neoplasia Type 1 |
|
Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancrea... |
ORPHA:652 |
Srd5A3-Cdg |
|
Elevated hepatic transaminase, Decreased response to growth hormone stimulation test, Abnormal ha... |
ORPHA:324737 |
Isolated Exencephaly |
|
Anterior pituitary hypoplasia, Posterior pituitary agenesis, Maternal diabetes |
ORPHA:563612 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Multiple pancreatic beta-cell adenomas, Increa... |
ORPHA:79644 |
Ppoma |
|
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Abnorm... |
ORPHA:97278 |
Perrault Syndrome 2 |
|
Streak ovary, Amenorrhea |
OMIM:614926 |
Hydatidiform Mole |
|
Hyperthyroidism, Menometrorrhagia, Enlarged uterus |
ORPHA:99927 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Pituitary hy... |
ORPHA:90674 |
Vipoma |
|
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Follicular thyroid carcinoma, Elevated... |
ORPHA:97282 |
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Decreased response to growth hormone stimulation test, Thick eyebrow |
ORPHA:436174 |
Mccune-Albright Syndrome |
|
Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... |
OMIM:174800 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Primary ame... |
OMIM:600955 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
OMIM:610978 |
Grfoma |
|
Neoplasm of the thymus, Pheochromocytoma, Hepatomegaly, Intermittent jaundice, Increased circulat... |
ORPHA:97261 |
Lig4 Syndrome |
|
Myelodysplasia, Cryptorchidism, Low anterior hairline, Acute lymphoblastic leukemia, Type II diab... |
OMIM:606593 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Cryptorchidism, Elevated circulating thyroid-stimulating hormone concentration, Irregular menstru... |
OMIM:101800 |
Prader-Willi Syndrome |
|
Hypopigmentation of hair, Small scrotum, Hypogonadotropic hypogonadism, Decreased response to gro... |
OMIM:176270 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... |
ORPHA:90794 |
Somatomammotropinoma |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating growth hormo... |
ORPHA:314769 |
Microphthalmia, Syndromic 3 |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypospadias, Cryptorchidism, Hypoth... |
OMIM:206900 |
Satoyoshi Syndrome |
|
Nephrogenic diabetes insipidus, Abnormal hair morphology, Hypoplasia of the uterus, Sparse or abs... |
ORPHA:3130 |
Multiple Endocrine Neoplasia, Type Iv |
|
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... |
OMIM:610755 |
14Q22Q23 Microdeletion Syndrome |
|
Small scrotum, Anterior pituitary hypoplasia, Adrenal hypoplasia, Cryptorchidism, Abnormality of ... |
ORPHA:264200 |
Mpdu1-Cdg |
|
Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation test |
ORPHA:79323 |
Gray Platelet Syndrome |
|
Splenomegaly, Myelodysplasia, Abnormality of the menstrual cycle |
ORPHA:721 |
Mullerian Aplasia And Hyperandrogenism |
|
Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ... |
OMIM:158330 |
Somatostatinoma |
|
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Elevated circulating growth hormone co... |
ORPHA:97283 |
Insulin-Like Growth Factor I Deficiency |
|
Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone concentration |
OMIM:608747 |
Holoprosencephaly 9 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... |
OMIM:610829 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Sex reversal, Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess |
OMIM:613743 |
Myotonic Dystrophy 2 |
|
Frontal balding, Oligozoospermia, Hypogonadism, Type II diabetes mellitus, Elevated circulating f... |
OMIM:602668 |
16P12.1P12.3 Triplication Syndrome |
|
Bilateral cryptorchidism, Abnormal intrahepatic bile duct morphology, Decreased response to growt... |
ORPHA:485405 |
15Q24 Microdeletion Syndrome |
|
Hypospadias, Decreased response to growth hormone stimulation test, Cryptorchidism, Microphallus,... |
ORPHA:94065 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Alopecia, Hypogonadism, Infertility, Oligomenorrhea, Type II diabetes mellitus, Type I diabetes m... |
ORPHA:412057 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant... |
ORPHA:90301 |
Hydranencephaly |
|
Thalamic edema, Dysgenesis of the thalamus, Atrophic pituitary gland |
ORPHA:2177 |
Intellectual Disability-Strabismus Syndrome |
|
Decreased serum insulin-like growth factor 1, Hypospadias, Decreased response to growth hormone s... |
ORPHA:363528 |
Acromegaly |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating growth hormo... |
ORPHA:963 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Widow's... |
OMIM:305400 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Brain neoplasm, Metrorrhagia, Precocious puberty, Jaundice, Spinal cord... |
ORPHA:370348 |
Prader-Willi Syndrome Due To Translocation |
|
Hypopigmentation of hair, Hypogonadotropic hypogonadism, External genital hypoplasia, Decreased r... |
ORPHA:177907 |
Autoimmune Polyendocrinopathy Type 4 |
|
Alopecia, Hypergonadotropic hypogonadism, Primary adrenal insufficiency, Biliary cirrhosis, Anter... |
ORPHA:227990 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest... |
ORPHA:30391 |
Autoimmune Polyendocrinopathy Type 3 |
|
Alopecia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Primary adrenal insuffic... |
ORPHA:227982 |
46,Xy Sex Reversal 5 |
|
Sex reversal, Elevated circulating follicle stimulating hormone level |
OMIM:613080 |
Cardiofaciocutaneous Syndrome 4 |
|
Absent eyebrow, Curly hair, Sparse eyelashes, Decreased response to growth hormone stimulation te... |
OMIM:615280 |
Immunodeficiency, Common Variable, 10 |
|
Central adrenal insufficiency, Abnormal response to ACTH stimulation test, Decreased response to ... |
OMIM:615577 |
Fanconi Anemia, Complementation Group W |
|
Polysplenia, Decreased response to growth hormone stimulation test, Myelodysplasia |
OMIM:617784 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Par... |
OMIM:610489 |
Carney Complex |
|
Hepatocellular carcinoma, Thyroid carcinoma, Papillary thyroid carcinoma, Neoplasm of the breast,... |
ORPHA:1359 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Pancreatic endocrine t... |
ORPHA:892 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Sparse hair, Hypopituitarism, Nail dystrophy, Hypohidrosis |
ORPHA:98813 |
Zollinger-Ellison Syndrome |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Elevated circulating... |
ORPHA:913 |
Ritscher-Schinzel Syndrome 1 |
|
Hypospadias, Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Low poste... |
OMIM:220210 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Decreased response to growth hormone stimulation test, Enteroviral hepatitis, Epididymitis, Delay... |
OMIM:307200 |
Ovarian Hyperstimulation Syndrome |
|
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... |
ORPHA:64739 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hypospadias, Anterior pituitary hypoplasia, Cryptorchidism, Micropenis, Breast hypoplasia |
ORPHA:464306 |
Solitary Median Maxillary Central Incisor |
|
Anterior hypopituitarism, Decreased response to growth hormone stimulation test |
OMIM:147250 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Hypopituitarism, Distichiasis, Delayed puberty |
OMIM:600462 |
Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Diabetes mellitus, Hepatocellular carcinoma, Hypersplenism, Splenomegaly, Jau... |
ORPHA:231226 |
Lead Poisoning |
|
Decreased female libido, Abnormality of the menstrual cycle, Oligozoospermia, Decreased circulati... |
ORPHA:330015 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Hypospadias, Anterior pituitary hypoplasia, Cryptorchidism, Chordee, Sparse hair |
OMIM:151050 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Alopecia, Premature ovarian insuffici... |
ORPHA:99413 |
Turner Syndrome |
|
Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Alopecia, Premature ovarian insuffici... |
ORPHA:881 |
Mosaic Monosomy X |
|
Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Alopecia, Premature ovarian insuffici... |
ORPHA:99228 |
Monosomy X |
|
Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Alopecia, Premature ovarian insuffici... |
ORPHA:99226 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Hirsutism, Amenorrhea |
ORPHA:2795 |
Glucagonoma |
|
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Elevated circulating growth hormone co... |
ORPHA:97280 |
Microform Holoprosencephaly |
|
Hypoplasia of penis, Maternal diabetes, Panhypopituitarism, Ambiguous genitalia, Hemangioma, Hypo... |
ORPHA:280200 |
Snakebite Envenomation |
|
Hypopituitarism |
ORPHA:449285 |
Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... |
ORPHA:1916 |
Pseudohypoparathyroidism Type 1B |
|
Elevated circulating parathyroid hormone level, Decreased response to growth hormone stimulation ... |
ORPHA:94089 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... |
ORPHA:95699 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dysmenorrhea, Splenomegaly, Irregular menstruation, ... |
ORPHA:264580 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Premature ovarian insufficiency, Female infertility |
OMIM:619518 |
Beta-Thalassemia Major |
|
Hypoparathyroidism, Hepatomegaly, Diabetes mellitus, Hepatocellular carcinoma, Hypersplenism, Spl... |
ORPHA:231214 |
Gomez-Lopez-Hernandez Syndrome |
|
Alopecia, Decreased response to growth hormone stimulation test |
OMIM:601853 |
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
|
Hypothyroidism, Panhypopituitarism, Decreased response to growth hormone stimulation test |
OMIM:618922 |
Ulnar-Mammary Syndrome |
|
Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Sparse axillary hair, ... |
OMIM:181450 |
Xq21 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi... |
ORPHA:1435 |
Aromatase Deficiency |
|
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism |
OMIM:613546 |
Cushing Disease |
|
Increased urinary cortisol level, Sparse scalp hair, Adrenal hyperplasia, Diabetes mellitus, Para... |
ORPHA:96253 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... |
OMIM:602782 |
Duplication Of The Pituitary Gland |
|
Abnormal hypothalamus morphology, Teratoma, Abnormal pituitary gland morphology |
ORPHA:314621 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... |
OMIM:146510 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Medial flaring of the eyebrow, Sparse scalp hair, Thick eyebrow, Curly hair, Decreased response t... |
OMIM:619503 |
Cohen Syndrome |
|
Decreased response to growth hormone stimulation test, Thick eyebrow, Delayed puberty |
OMIM:216550 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Sparse scalp hair, Decreased response to growth hormone stimulation test, Highly arched eyebrow, ... |
OMIM:615866 |
17Q24.2 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Synophrys, Secondary amenorrhea, Pineal cy... |
ORPHA:529962 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... |
ORPHA:99889 |
Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Dyspareunia, Partial vaginal septum, Metrorrhagia, Dysmenorrhea, Abnormal uterine cervix morpholo... |
ORPHA:3411 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypopituitarism, Hypothyroidism |
ORPHA:90065 |
Frontorhiny |
|
Pericallosal lipoma, Hypopituitarism, Diabetes insipidus, Widow's peak |
ORPHA:391474 |
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Hypothyroidism, Decreased response to growth hormone stimulation test, Delayed puberty |
OMIM:619234 |
Igg4-Related Ophthalmic Disease |
|
Cholangitis, Orchitis, Retroperitoneal fibrosis, Abnormality of the anterior pituitary, Enlarged ... |
ORPHA:449563 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Anterior pituitary hypoplasia, Supernumerary nipple, Bilateral cryptorchidism, Cryptorchidism, De... |
ORPHA:466791 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Decreased ser... |
OMIM:608594 |
Seckel Syndrome 10 |
|
Acute pancreatitis, Diabetes mellitus, Elevated circulating aspartate aminotransferase concentrat... |
OMIM:617253 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dysmenorrhea, Splenomegaly, Irregular menstruation, ... |
ORPHA:79240 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormality of the menstrual ... |
ORPHA:905 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Decreased serum leptin, Decrease... |
OMIM:269700 |
Peritoneal Cystic Mesothelioma |
|
Dyspareunia, Metrorrhagia, Peritonitis, Neoplasm, Menorrhagia |
ORPHA:168816 |
Fanconi Anemia, Complementation Group F |
|
Cryptorchidism, Microphallus, Decreased response to growth hormone stimulation test |
OMIM:603467 |
Fanconi Anemia, Complementation Group I |
|
Hypothyroidism, Decreased response to growth hormone stimulation test |
OMIM:609053 |
Primary Ciliary Dyskinesia |
|
Male infertility, Female infertility, Asplenia, Polysplenia, Abnormal sperm motility |
ORPHA:244 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Sparse scalp hair, Hypospadias, Anterior pituitary hypoplasia, Highly arched eyebrow, Sparse eyeb... |
OMIM:619841 |
Hartsfield Syndrome |
|
Hypospadias, Cryptorchidism, Gonadotropin deficiency, Micropenis, Diabetes insipidus |
OMIM:615465 |
H Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Diabetes mellitus, Hypertrichosis, Hepatosplenomegaly, Azo... |
ORPHA:168569 |
Wolfram Syndrome 2 |
|
Diabetes mellitus, Oligomenorrhea, Primary amenorrhea |
OMIM:604928 |
Acromelic Frontonasal Dysostosis |
|
Tubulonodular pericallosal lipoma, Cryptorchidism, Hypopituitarism, Lipoma |
OMIM:603671 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... |
OMIM:233420 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Hypospadias, Decreased response to growth hormone stimulation test, Precocious puberty, Cryptorch... |
ORPHA:96182 |
Tbck-Related Intellectual Disability Syndrome |
|
Thick eyebrow, Hyperthyroidism, Decreased response to growth hormone stimulation test, Cryptorchi... |
ORPHA:488632 |
Pycnodysostosis |
|
Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te... |
ORPHA:763 |
Meier-Gorlin Syndrome 6 |
|
Hypoplastic labia majora, Cryptorchidism, Decreased response to growth hormone stimulation test, ... |
OMIM:616835 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Accessory spleen, Elevated circulating luteinizing hormone level, Highly arched eyebrow, Sparse e... |
OMIM:618419 |
Steinert Myotonic Dystrophy |
|
Brain neoplasm, Decreased response to growth hormone stimulation test, Non-medullary thyroid carc... |
ORPHA:273 |
Chromosome 18Q Deletion Syndrome |
|
Hypospadias, Decreased response to growth hormone stimulation test, Cryptorchidism, Low anterior ... |
OMIM:601808 |
Eec Syndrome |
|
Hypospadias, Decreased response to growth hormone stimulation test, Slow-growing hair, Sparse eye... |
ORPHA:1896 |
Holoprosencephaly |
|
Hypoplasia of penis, Diabetes mellitus, Diabetes insipidus, Highly arched eyebrow, Cryptorchidism... |
ORPHA:2162 |
Acrootoocular Syndrome |
|
Decreased response to growth hormone stimulation test |
ORPHA:2980 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Sparse scalp hair, Fair hair, Absence of Stensen duct, Decreased response to growth hormone stimu... |
OMIM:604292 |
Monosomy 18Q |
|
Astrocytoma, Bilateral cryptorchidism, Low anterior hairline, Micropenis, Hypothyroidism, Seconda... |
ORPHA:1600 |
Klippel-Trénaunay Syndrome |
|
Hepatomegaly, Hemangioma, Abnormality of the menstrual cycle |
ORPHA:90308 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Congenital hypoparathyroidism, Decreased testicular size, Abnormal circulating follicle-stimulati... |
ORPHA:93325 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Sparse scalp hair, Fair hair, Absence of Stensen duct, Decreased response to growth hormone stimu... |
OMIM:129900 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Sparse hair, Hypothyroidism, Decreased response to growth hormone stimulation test |
OMIM:614114 |
Spondyloenchondrodysplasia |
|
Enchondroma, Hepatitis, Hypothyroidism, Decreased response to growth hormone stimulation test |
ORPHA:1855 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Elevated hepatic transaminase, Decreased response to growth hormone stimulation test, Ganglioneur... |
ORPHA:293987 |
Shwachman-Diamond Syndrome |
|
Acute myeloid leukemia, Hepatomegaly, Elevated hepatic transaminase, Diabetes mellitus, Decreased... |
ORPHA:811 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... |
OMIM:618223 |
Gabriele-De Vries Syndrome |
|
Decreased response to growth hormone stimulation test, Sparse eyebrow, Cryptorchidism, Frontal up... |
ORPHA:506358 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hypospadias, Decreased response to growth hormone stimulation test, Premature thelarche, Abnormal... |
ORPHA:268261 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Central adrenal insufficiency, Decreased response to growth hormone stimulation test, Thick eyebrow |
OMIM:616007 |
Igg4-Related Kidney Disease |
|
Retroperitoneal fibrosis, Abnormal mesentery morphology, Abnormality of the anterior pituitary, T... |
ORPHA:449395 |
Microphthalmia, Syndromic 6 |
|
Small scrotum, Female hypogonadism, Adrenal hypoplasia, Cryptorchidism, Anterior hypopituitarism,... |
OMIM:607932 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Decreased response to growth hormone stimulation test |
OMIM:617260 |
Pearson Syndrome |
|
Hypoparathyroidism, Hepatic steatosis, Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Decr... |
ORPHA:699 |
Malakoplakia |
|
Orchitis, Prostate neoplasm, Abnormality of the menstrual cycle |
ORPHA:556 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Decreased response to growth hormone stimulation test, Supernumerary nipple, Highly arched eyebro... |
OMIM:213980 |
Interstitial Cystitis |
|
Dyspareunia, Abnormal vagina morphology, Abnormal labia morphology, Abnormality of the menstrual ... |
ORPHA:37202 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hepatomegaly, Anterior pituitary hypoplasia, Elevated circulating aspartate aminotransferase conc... |
OMIM:619534 |
Charge Syndrome |
|
Bifid scrotum, Hypogonadotropic hypogonadism, Highly arched eyebrow, Cryptorchidism, Micropenis, ... |
ORPHA:138 |
Wiedemann-Steiner Syndrome |
|
Decreased response to growth hormone stimulation test, Synophrys, Long eyelashes, Congenital, gen... |
ORPHA:319182 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Cryptorchidism, Micropenis, Posterior pituitary hypoplasia, Hypospadias |
ORPHA:464311 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Abnormality of the endocrine system, Cryptorchidism, Precocious puberty, Abnormality of the anter... |
ORPHA:438213 |
Wiskott-Aldrich Syndrome |
|
Abnormality of the menstrual cycle, Lymphoma, Chronic leukemia, Acute leukemia, Neoplasm, Hypopla... |
ORPHA:906 |
Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
ORPHA:64 |
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 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Exocrine pancreatic insufficiency, Biliary atresia,... |
ORPHA:2255 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Alopecia, Hypospadias, Decreased response to growth hormone stimulation test, Testicular neoplasm... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Alopecia, Hypospadias, Decreased response to growth hormone stimulation test, Testicular neoplasm... |
ORPHA:363958 |
Holoprosencephaly 7 |
|
Fusion of the left and right thalami, Synophrys, Panhypopituitarism |
OMIM:610828 |
Peters Plus Syndrome |
|
Hypospadias, Cryptorchidism, Congenital hypothyroidism, Hypoplasia of the uterus, Clitoral hypopl... |
ORPHA:709 |
Charge Syndrome |
|
Hypoparathyroidism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
OMIM:214800 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Curly hair, Hypospadias, Decreased response to growth hormone stimulation test, Highly arched eye... |
ORPHA:444077 |
Lysinuric Protein Intolerance |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased response to growth hormone stimulation tes... |
ORPHA:470 |
Helsmoortel-Van Der Aa Syndrome |
|
Cryptorchidism, High anterior hairline, Decreased response to growth hormone stimulation test, Pi... |
OMIM:615873 |
Wiedemann-Rautenstrauch Syndrome |
|
Sparse scalp hair, Hyperthyroidism, Hypogonadotropic hypogonadism, Decreased response to growth h... |
ORPHA:3455 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea |
OMIM:277000 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Hypospadias, Decreased response to growth hormone stimulation test |
OMIM:180500 |
Witteveen-Kolk Syndrome |
|
Medial flaring of the eyebrow, Unilateral cryptorchidism, Decreased response to growth hormone st... |
OMIM:613406 |
Holoprosencephaly 2 |
|
Adrenal hypoplasia, Diabetes insipidus, Anterior pituitary agenesis |
OMIM:157170 |
Hypermobile Ehlers-Danlos Syndrome |
|
Cystocele, Decreased fertility, Abnormality of the menstrual cycle |
ORPHA:285 |