Pituitary Adenoma 5, Multiple Types |
|
Pituitary adenoma |
OMIM:617540 |
Thyroid Hormone Metabolism, Abnormal, 1 |
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Hypothyroidism, Decreased circulating free T3, Elevated circulating thyroid-stimulating hormone c... |
OMIM:609698 |
Post-Traumatic Pituitary Deficiency |
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Amenorrhea, Infertility, Growth delay, Abnormal prolactin level, Decreased response to growth hor... |
ORPHA:95619 |
Functioning Gonadotropic Adenoma |
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Impotence, Ovarian cyst, Central diabetes insipidus, Enlarged polycystic ovaries, Pituitary gonad... |
ORPHA:91348 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Adrenal insufficiency, Reduced circulating prolactin concentration, Short stature, Panhypopituita... |
OMIM:262600 |
Isochromosomy Yp |
|
Ambiguous genitalia, Male infertility, Decreased testicular size, Primary gonadal insufficiency, ... |
ORPHA:98797 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
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Non-obstructive azoospermia, Abnormal spermatogenesis, Decreased testicular size, Azoospermia, In... |
ORPHA:399805 |
Non-Functioning Pituitary Adenoma |
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Impotence, Central adrenal insufficiency, Decreased fertility in males, Erectile dysfunction, Hyp... |
ORPHA:91349 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
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Decreased serum testosterone concentration, Azoospermia, Testicular microlithiasis, Micropenis, O... |
OMIM:228300 |
Isochromosomy Yq |
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Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Primary gonadal ins... |
ORPHA:98798 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
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Decreased circulating free T3, Abnormal circulating insulin concentration, Elevated circulating t... |
ORPHA:171706 |
Spermatogenic Failure, X-Linked, 4 |
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Decreased serum testosterone concentration, Abnormal prolactin level, Elevated circulating lutein... |
OMIM:301077 |
Spermatogenic Failure 15 |
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Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... |
OMIM:616950 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
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Hypoplasia of the ovary, Reduced circulating prolactin concentration, Short stature, Hypogonadotr... |
ORPHA:2235 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
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Abnormal vagina morphology, Infertility, Hypoplasia of the uterus, Decreased serum testosterone c... |
ORPHA:168563 |
Ovarian Dysgenesis 9 |
|
Hypoplasia of the ovary, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level... |
OMIM:619665 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
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Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Gonadotr... |
OMIM:614837 |
Polyendocrine-Polyneuropathy Syndrome |
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Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Hypogonad... |
ORPHA:453533 |
Partial Chromosome Y Deletion |
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Oligospermia, Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Decreased ... |
ORPHA:1646 |
Spermatogenic Failure 2 |
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Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... |
OMIM:108420 |
Isolated Growth Hormone Deficiency, Type Iv |
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Anterior pituitary hypoplasia, Decreased serum insulin-like growth factor 1, Decreased response t... |
OMIM:618157 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
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Infertility, Elevated circulating luteinizing hormone level, Decreased circulating follicle stimu... |
OMIM:229070 |
Panhypopituitarism, X-Linked |
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Panhypopituitarism |
OMIM:312000 |
Non-Acquired Isolated Growth Hormone Deficiency |
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Anterior hypopituitarism |
ORPHA:631 |
Isolated Follicle Stimulating Hormone Deficiency |
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Testicular atrophy, Decreased serum testosterone concentration, Azoospermia, Delayed menarche, Hy... |
ORPHA:52901 |
Ane Syndrome |
|
Decreased serum testosterone concentration, Decreased response to growth hormone stimulation test... |
ORPHA:157954 |
Premature Ovarian Failure 7 |
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Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Gon... |
OMIM:612964 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
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Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona... |
OMIM:308700 |
Pituicytoma |
|
Abnormality of the pituitary gland, Amenorrhea, Impotence, Decreased serum testosterone concentra... |
ORPHA:251623 |
Wolfram-Like Syndrome |
|
Primary gonadal insufficiency, Severe postnatal growth retardation, Hypothyroidism, Male hypogona... |
ORPHA:411590 |
Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size |
OMIM:619145 |
Ring Chromosome Y Syndrome |
|
Ambiguous genitalia, female, Female infertility, Streak ovary, Abnormality of the male genitalia,... |
ORPHA:261529 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
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Absence of pubertal development, Decreased circulating follicle stimulating hormone concentration... |
OMIM:619755 |
Kallmann Syndrome With Spastic Paraplegia |
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Testicular atrophy, Leydig cell insensitivity to gonadotropin, Eunuchoid habitus, Micropenis, Hyp... |
OMIM:308750 |
Hypothyroidism, Central, With Testicular Enlargement |
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Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Reduced circulating prol... |
OMIM:300888 |
Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:619831 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
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Decreased serum testosterone concentration, Micropenis, Decreased circulating follicle stimulatin... |
OMIM:614897 |
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone |
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Cryptorchidism, Congenital adrenal hypoplasia, Decreased circulating luteinizing hormone level |
OMIM:202150 |
Prolactin Deficiency With Obesity And Enlarged Testes |
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Obesity, Reduced circulating prolactin concentration, Macroorchidism |
OMIM:264120 |
Polyendocrine-Polyneuropathy Syndrome |
|
Postnatal growth retardation, Short stature, Hypogonadism, Central hypothyroidism |
OMIM:616113 |
Thyroid Hormone Resistance, Selective Pituitary |
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Elevated circulating thyroid-stimulating hormone concentration, Hyperthyroidism, Impaired sensiti... |
OMIM:145650 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
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Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Decreased testicula... |
ORPHA:399808 |
Diabetes Insipidus, Neurohypophyseal |
|
Decreased circulating osteocalcin level, Central diabetes insipidus |
OMIM:125700 |
Pituitary Dwarfism With Large Sella Turcica |
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Hypothyroidism, Growth delay, Pituitary dwarfism, Decreased response to growth hormone stimulatio... |
OMIM:262710 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... |
OMIM:613038 |
Premature Ovarian Failure 18 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... |
OMIM:619203 |
Amenorrhea-Galactorrhea Syndrome |
|
Pituitary adenoma |
OMIM:104600 |
Prolactin Deficiency, Isolated |
|
Infertility, Irregular menstruation, Reduced circulating prolactin concentration |
OMIM:264110 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... |
OMIM:619326 |
Premature Ovarian Failure 10 |
|
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypo... |
OMIM:612885 |
Non-Acquired Panhypopituitarism |
|
Amenorrhea, Ectopic anterior pituitary gland, Infertility, Growth delay, Abnormal prolactin level... |
ORPHA:90695 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypoplasia of the ovary, Decreased serum testosterone concentration, Hypoplasia of the uterus, Mi... |
OMIM:614841 |
Premature Ovarian Failure 6 |
|
Female infertility, Hypoplasia of the uterus, Streak ovary, Elevated circulating luteinizing horm... |
OMIM:612310 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
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Hypoplasia of the uterus, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulati... |
OMIM:614842 |
Growth Hormone Deficiency, Isolated Partial |
|
Decreased response to growth hormone stimulation test, Small pituitary gland |
OMIM:615925 |
Joubert Syndrome 26 |
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Decreased response to growth hormone stimulation test, Short stature, Micropenis, Panhypopituitar... |
OMIM:616784 |
46,Xy Sex Reversal 11 |
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Urogenital sinus anomaly, Decreased serum testosterone concentration, Gonadal dysgenesis with fem... |
OMIM:273250 |
Premature Ovarian Failure 13 |
|
Amenorrhea, Hypoplasia of the uterus, Female infertility, Oligomenorrhea, Elevated circulating fo... |
OMIM:617442 |
Moynahan Syndrome |
|
Cachexia, Short stature, Hypogonadism |
ORPHA:2574 |
Delayed Puberty, Self-Limited |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... |
OMIM:619613 |
Panhypophysitis |
|
Amenorrhea, Adrenocorticotropic hormone deficiency, Impotence, Decreased serum testosterone conce... |
ORPHA:95513 |
Perrault Syndrome 4 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Bicornuate uterus, Primary amenorrhea, Oligome... |
OMIM:615300 |
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Increased circulating ACTH level, Congenital adrenal hyperplasia |
OMIM:613571 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Decreased circulating androgen concentration, Decreased fertility in males, Hypergonadotropic hyp... |
ORPHA:90796 |
Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Early sperm... |
OMIM:619949 |
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism |
|
Hypothyroidism, Panhypopituitarism, Decreased response to growth hormone stimulation test |
OMIM:300123 |
Adenohypophysitis |
|
Amenorrhea, Adrenocorticotropic hormone deficiency, Impotence, Decreased serum testosterone conce... |
ORPHA:95512 |
46,Xy Partial Gonadal Dysgenesis |
|
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... |
ORPHA:251510 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Azoospermia, Male hypogonadism |
OMIM:241000 |
Spermatogenic Failure 25 |
|
Azoospermia, Cryptozoospermia, Decreased testicular size |
OMIM:617960 |
Partial Androgen Insensitivity Syndrome |
|
Abnormal circulating estrogen level, Blind vagina, Primary amenorrhea, Ambiguous genitalia, Clito... |
ORPHA:90797 |
Pituitary Adenoma 2, Growth Hormone-Secreting |
|
Pituitary adenoma, Elevated circulating growth hormone concentration |
OMIM:300943 |
Diencephalic Syndrome |
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Decreased body weight, Cachexia, Abnormality of the hypothalamus-pituitary axis, Long penis, Hype... |
ORPHA:1672 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Blind vagina, Decreased circulating cortisol level, Ovarian cyst, Primary amenorrhea, Abnormal re... |
ORPHA:90793 |
Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus, Primary amenorrhea, Delayed puberty |
OMIM:618117 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Increased female libido, Hypoplasia of the ovary, Decreased serum testosterone concentration, Cry... |
ORPHA:432 |
Gangliocytoma |
|
Abnormality of the pituitary gland, Amenorrhea, Pituitary null cell adenoma, Elevated circulating... |
ORPHA:251937 |
49,Xyyyy Syndrome |
|
Abnormality of the testis size, Decreased serum testosterone concentration, External genital hypo... |
ORPHA:99330 |
Spermatogenic Failure 28 |
|
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... |
OMIM:618086 |
Pituitary Apoplexy |
|
Adrenocorticotropic hormone deficiency, Pituitary adenoma, Elevated circulating growth hormone co... |
ORPHA:95613 |
Pituitary Stalk Interruption Syndrome |
|
Failure to thrive, Hypoplasia of penis, Short stature, Abnormality of the hypothalamus-pituitary ... |
ORPHA:95496 |
X-Linked Intellectual Disability, Van Esch Type |
|
Failure to thrive, Type II diabetes mellitus, Decreased serum testosterone concentration, Cryptor... |
ORPHA:163976 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Growth delay, Decreased circulating T4 concentration... |
ORPHA:226307 |
Leydig Cell Hypoplasia |
|
Abnormal external genitalia, Hypergonadotropic hypogonadism, Primary amenorrhea, Hyoplasia of the... |
ORPHA:755 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Ambiguous genitalia, female, Decreased fertility in males, Decreased circulating cortisol level, ... |
ORPHA:90791 |
Hyperthyroidism, Familial Gestational |
|
Decreased thyroid-stimulating hormone level, Hyperthyroidism |
OMIM:603373 |
46,Xy Sex Reversal 3 |
|
Sex reversal, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Gonadal d... |
OMIM:612965 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Growth delay, Decreased circulating T4 concentration, Reduced circulating prolactin concentration... |
ORPHA:99832 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Abdominal obesity, Decreased serum testosterone concentration, Cryptorchidism, Short stature, Sma... |
OMIM:300869 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Short stature, Hypergonadotropic hypogonadism, Primary amenorrhea, Absence of secondary sex chara... |
ORPHA:2410 |
Oliver-Mcfarlane Syndrome |
|
Severe short stature, Hypoplasia of penis, Decreased response to growth hormone stimulation test,... |
OMIM:275400 |
Complete Androgen Insensitivity Syndrome |
|
Increased serum testosterone level, Blind vagina, Increased antimullerian hormone level, Abnormal... |
ORPHA:99429 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility |
OMIM:619108 |
Rothmund-Thomson Syndrome, Type 1 |
|
Hypothyroidism, Premature ovarian insufficiency, Male hypogonadism, Short stature |
OMIM:618625 |
Sheehan Syndrome |
|
Amenorrhea, Adrenocorticotropic hormone deficiency, Impotence, Dyspareunia, Central adrenal insuf... |
ORPHA:91355 |
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism |
|
Micropenis, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone con... |
OMIM:619761 |
Estrogen Resistance |
|
Hypoplasia of the uterus, Hyperinsulinemia, Primary amenorrhea |
OMIM:615363 |
Morbid Obesity And Spermatogenic Failure |
|
Infertility, Type II diabetes mellitus, Azoospermia, Oligospermia, Obesity |
OMIM:615703 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Inappropriately normal thyroid-stimulating hormone level, Central hypothyroidism |
OMIM:301033 |
Spermatogenic Failure 73 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619937 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Adrenal insufficiency, Short stature, Severe postnatal growth retardation, Pituitary dwarfism, Hy... |
OMIM:262700 |
Hypothyroidism, Congenital, Nongoitrous, 9 |
|
Inappropriately normal thyroid-stimulating hormone level, Thyroid hypoplasia, Central hypothyroidism |
OMIM:301035 |
Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619672 |
Spermatogenic Failure 12 |
|
Azoospermia, Infertility, Abnormal male germ cell morphology |
OMIM:615413 |
Precocious Puberty, Central, 1 |
|
Short stature, Elevated circulating luteinizing hormone level, Isosexual precocious puberty, Hypo... |
OMIM:176400 |
Hypothyroidism, Congenital, Nongoitrous, 1 |
|
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypoth... |
OMIM:275200 |
Bangstad Syndrome |
|
Hyperinsulinemia, Increased circulating cortisol level, Short stature, Abnormality of the parathy... |
ORPHA:1227 |
Estrogen Resistance Syndrome |
|
Hyperinsulinemia, Hypoplasia of the uterus, Absence of pubertal development, Primary amenorrhea, ... |
ORPHA:785 |
Ovarian Dysgenesis 2 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Secon... |
OMIM:300510 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Short stature, Hypergonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary axis, Az... |
ORPHA:2183 |
Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
X-Linked Intellectual Disability, Cilliers Type |
|
Failure to thrive, Decreased serum testosterone concentration, Cryptorchidism, Short stature, Hyp... |
ORPHA:163971 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Amenorrhea, Ectopic anterior pituitary gland, Infertility, Growth delay, Abnormal prolactin level... |
ORPHA:95494 |
Adrenal Hypoplasia, Congenital |
|
Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Precocious pub... |
OMIM:300200 |
Ovarian Dysgenesis 1 |
|
Increased circulating gonadotropin level, Primary amenorrhea, Gonadal dysgenesis |
OMIM:233300 |
Retinohepatoendocrinologic Syndrome |
|
Maturity-onset diabetes of the young, Infertility, Hypothyroidism |
OMIM:268040 |
Young Syndrome |
|
Obstructive azoospermia, Decreased fertility |
ORPHA:3471 |
Perrault Syndrome 3 |
|
Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Primary amenorrhea, Short stature |
OMIM:614129 |
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Infertility, Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Abnormality of the urethr... |
ORPHA:752 |
Spermatogenic Failure 70 |
|
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:619828 |
Pituitary Carcinoma |
|
Pituitary growth hormone cell adenoma, Enlarged pituitary gland, Elevated circulating growth horm... |
ORPHA:300385 |
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency |
|
Hypothyroidism, Male pseudohermaphroditism, Female external genitalia in individual with 46,XY ka... |
OMIM:264300 |
47,Xyy Syndrome |
|
Increased serum testosterone level, Cryptorchidism, Micropenis, Hypospadias, Oligospermia, Varico... |
ORPHA:8 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Decreased response to growth hormone stimulation test, Short stature, Hypergonadotropic hypogonad... |
ORPHA:280679 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Abnormal calcium-phosphate regulating hormone level, Precocious puberty, Hyperthyroidism, Abnorma... |
ORPHA:457059 |
Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Infertility, Impotence, Decreased serum testosterone concentration, Cryptorchidism, Small pituita... |
ORPHA:2232 |
Müllerian Aplasia And Hyperandrogenism |
|
Increased serum testosterone level, Abnormal vagina morphology, Hypoplasia of the uterus, Short s... |
ORPHA:247768 |
Spermatogenic Failure 32 |
|
Azoospermia, Infertility |
OMIM:618115 |
Spermatogenic Failure 23 |
|
Azoospermia, Infertility |
OMIM:617707 |
49,Xxxyy Syndrome |
|
Abnormality of the testis size, Decreased serum testosterone concentration, External genital hypo... |
ORPHA:261534 |
Seckel Syndrome 7 |
|
Hypoplasia of the uterus, Severe short stature, Primary amenorrhea, Intrauterine growth retardati... |
OMIM:614851 |
Meningioma |
|
Amenorrhea, Enlarged pituitary gland, Impotence, Decreased serum testosterone concentration, Redu... |
ORPHA:2495 |
Leydig Cell Hypoplasia, Type I |
|
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level |
OMIM:238320 |
Woodhouse-Sakati Syndrome |
|
Growth delay, Hyperinsulinemia, Decreased serum testosterone concentration, Decreased response to... |
ORPHA:3464 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Abdominal obesity, Decreased response to growth hormone stimulation test, Short stature, Truncal ... |
OMIM:618160 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Hypergonadotropic hypogonadism, Abnormality of thalamus morphology, Azoospermia |
OMIM:613724 |
Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility |
ORPHA:94064 |
Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
46,Xx Gonadal Dysgenesis |
|
Streak ovary, Short stature, Primary amenorrhea, Gonadal dysgenesis, Aplasia/hypoplasia of the ut... |
ORPHA:243 |
Ovarian Dysgenesis 3 |
|
Female infertility, Elevated circulating follicle stimulating hormone level, Elevated circulating... |
OMIM:614324 |
Central Precocious Puberty |
|
Hypothalamic hamartoma, Premature thelarche, Increased body weight, Isosexual precocious puberty,... |
ORPHA:759 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Graves disease, Increased circulating free T3, Weigh... |
OMIM:275000 |
Endocardial Fibroelastosis |
|
Cryptorchidism, Hypoplasia of penis, Anterior hypopituitarism |
ORPHA:2022 |
Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Central adrenal insufficiency, External genital hypoplasia, Primary amenorrhea, Clitoral hypoplas... |
ORPHA:98754 |
Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Decreased circulating renin level, Hyperaldosteronism, Adrenogenital syndrome |
OMIM:103900 |
Laryngeal Neuroendocrine Tumor |
|
Increased serum serotonin, Adrenocorticotropic hormone excess, Inappropriate antidiuretic hormone... |
ORPHA:100083 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Decreased response to growth hormone stimulation test, Short stature, Hypergonadotropic hypogonad... |
OMIM:300845 |
Riboflavin Transporter Deficiency |
|
Diabetes insipidus, Cachexia, Hypogonadism |
ORPHA:97229 |
Tsh-Secreting Pituitary Adenoma |
|
Impotence, Central adrenal insufficiency, Decreased fertility in males, Increased circulating pro... |
ORPHA:91347 |
Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Micropenis, Small for gestational age, Hypospadias, Vaginal neoplasm, D... |
ORPHA:1916 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Central adrenal insufficiency, External genital hypoplasia, Primary amenorrhea, Clitoral hypoplas... |
ORPHA:98793 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Azoospermia, Growth delay, Hypogonadism |
OMIM:615234 |
Spermatogenic Failure 8 |
|
Azoospermia, Oligospermia, Cryptozoospermia |
OMIM:613957 |
Hypogonadism-Cataract Syndrome |
|
Infertility, Elevated circulating follicle stimulating hormone level, Male hypogonadism, Hypogona... |
OMIM:240950 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Central adrenal insufficiency, External genital hypoplasia, Primary amenorrhea, Clitoral hypoplas... |
ORPHA:177904 |
Spinocerebellar Ataxia Type 32 |
|
Azoospermia, Testicular atrophy, Male infertility |
ORPHA:276183 |
Transient Neonatal Diabetes Mellitus |
|
Failure to thrive, Hypoinsulinemia, Small for gestational age, Maturity-onset diabetes of the you... |
ORPHA:99886 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Central adrenal insufficiency, External genital hypoplasia, Primary amenorrhea, Clitoral hypoplas... |
ORPHA:177901 |
Prolactinoma |
|
Impotence, Dyspareunia, Central adrenal insufficiency, Decreased fertility in males, Erectile dys... |
ORPHA:2965 |
Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary, Irregular menstruation, Primary amenorrhea, Secondary ame... |
OMIM:617565 |
Familial Glucocorticoid Deficiency |
|
Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Precocious pub... |
ORPHA:361 |
Oocyte Maturation Defect 10 |
|
Female infertility, Miscarriage |
OMIM:619176 |
Silver-Russell Syndrome |
|
Abnormal vagina morphology, Precocious puberty, Short stature, Abnormality of male external genit... |
ORPHA:813 |
Spermatogenic Failure, X-Linked, 2 |
|
Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
Perrault Syndrome 1 |
|
Increased circulating gonadotropin level, Primary amenorrhea, Gonadal dysgenesis, Short stature |
OMIM:233400 |
Androgen Insensitivity Syndrome |
|
Labial hypoplasia, Blind vagina, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:300068 |
X-Linked Acrogigantism |
|
Increased circulating insulin-like growth factor 1 concentration, Decreased thyroid-stimulating h... |
ORPHA:300373 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Growth delay, Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulati... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Growth delay, Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulati... |
ORPHA:71526 |
46,Xy Sex Reversal 1 |
|
Sex reversal, Abnormality of male external genitalia, Elevated circulating luteinizing hormone le... |
OMIM:400044 |
Isolated Growth Hormone Deficiency, Type Ib |
|
Decreased response to growth hormone stimulation test, Short stature |
OMIM:612781 |
Mehmo Syndrome |
|
Decreased response to growth hormone stimulation test, Micropenis, Small for gestational age, Bir... |
OMIM:300148 |
Hemochromatosis, Type 2A |
|
Amenorrhea, Hypogonadotropic hypogonadism, Infertility, Azoospermia |
OMIM:602390 |
Hydatidiform Mole |
|
Menometrorrhagia, Miscarriage, Hyperthyroidism, Enlarged uterus |
ORPHA:99927 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Chordee, Miscarriage, Decreased response to growth hormone stimulation test, Hypospadias, Hypothy... |
ORPHA:96179 |
Pseudohypoparathyroidism Type 1C |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:79444 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Adrenal hyperplasia, Increased circulating cortisol level |
OMIM:614190 |
Testicular Agenesis |
|
Urogenital sinus anomaly, Hypoplasia of the uterus, Decreased serum testosterone concentration, A... |
ORPHA:325124 |
Maternal Uniparental Disomy Of Chromosome X |
|
Short stature, Ambiguous genitalia, Primary gonadal insufficiency, Azoospermia, Gonadal tissue in... |
ORPHA:261519 |
Mcdonough Syndrome |
|
Cachexia, Cryptorchidism, Short stature |
ORPHA:2471 |
Spermatogenic Failure 30 |
|
Azoospermia, Cryptozoospermia |
OMIM:618110 |
Lipoid Congenital Adrenal Hyperplasia |
|
Congenital adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201710 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Adrenocorticotropic hormone deficiency, Precocious puberty, Impotence, Decreased response to grow... |
ORPHA:91354 |
Acromesomelic Dysplasia 3 |
|
Disproportionate short-limb short stature, Hypoplasia of the uterus, Hypergonadotropic hypogonadi... |
OMIM:609441 |
Renpenning Syndrome |
|
Severe short stature, Hypospadias, Cachexia, Decreased testicular size, Diabetes mellitus, Growth... |
ORPHA:3242 |
Ovarian Dysgenesis 10 |
|
Hypoplasia of the ovary, Streak ovary, Elevated circulating luteinizing hormone level, Primary am... |
OMIM:619834 |
Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... |
ORPHA:66628 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Type II diabetes mellitus, Impaired sensitivity to thyroid hormone, Small for gestational age, Co... |
OMIM:274300 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Ambiguous genitalia, female, Streak ovary, Ambiguous genitalia, Abnormal internal genitalia, Bila... |
ORPHA:1772 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Increased serum testosterone level, Decreased circulating aldosterone level, Ambiguous genitalia,... |
OMIM:202010 |
46,Xx Sex Reversal 1 |
|
Sex reversal, Bicornuate uterus, Hypospadias, Elevated circulating luteinizing hormone level, Ovo... |
OMIM:400045 |
Ovarian Dysgenesis 4 |
|
Decreased body weight, Short stature, Primary amenorrhea, Decreased serum estradiol, Elevated cir... |
OMIM:616185 |
Pseudohypoparathyroidism, Type Ic |
|
Short stature, Elevated circulating parathyroid hormone level, Hypothyroidism, Hypogonadism, Obes... |
OMIM:612462 |
Leptin Receptor Deficiency |
|
Decreased response to growth hormone stimulation test, Abnormal hypothalamus morphology, Short st... |
OMIM:614963 |
Potocki-Shaffer Syndrome |
|
Hypothyroidism, Delayed puberty, Micropenis |
ORPHA:52022 |
Prader-Willi-Like Syndrome |
|
Central adrenal insufficiency, External genital hypoplasia, Primary amenorrhea, Clitoral hypoplas... |
ORPHA:398073 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Amenorrhea, Female infertility, Hypoplasia of the uterus, Irregular menstruation, Increased circu... |
OMIM:110100 |
Woodhouse-Sakati Syndrome |
|
Hypoplasia of the uterus, Decreased serum testosterone concentration, Micropenis, Hypergonadotrop... |
OMIM:241080 |
Maffucci Syndrome |
|
Pituitary adenoma, Ovarian neoplasm, Parathyroid adenoma, Short stature, Neoplasm of the adrenal ... |
ORPHA:163634 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... |
ORPHA:179494 |
Oocyte Maturation Defect 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Sim1-Related Prader-Willi-Like Syndrome |
|
External genital hypoplasia, Primary amenorrhea, Clitoral hypoplasia, Hypogonadism, Small scrotum... |
ORPHA:398079 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Cryptorchidism, Decreased testicular size, Small pituitary gland |
OMIM:614880 |
Premature Ovarian Failure 20 |
|
Female infertility, Elevated circulating luteinizing hormone level, Elevated circulating follicle... |
OMIM:619938 |
Prader-Willi Syndrome |
|
Central adrenal insufficiency, External genital hypoplasia, Primary amenorrhea, Clitoral hypoplas... |
ORPHA:739 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Oligospermia, Decreased testicular size |
OMIM:619689 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis |
ORPHA:488191 |
Thyroid Dyshormonogenesis 3 |
|
Increased T3/T4 ratio, Goiter, Compensated hypothyroidism, Thyroid carcinoma |
OMIM:274700 |
Pituitary Adenoma 1, Multiple Types |
|
Pituitary growth hormone cell adenoma, Pituitary adenoma, Elevated circulating growth hormone con... |
OMIM:102200 |
Isolated Growth Hormone Deficiency, Type Ii |
|
Pituitary dwarfism, Severe short stature, Decreased response to growth hormone stimulation test |
OMIM:173100 |
Mccune-Albright Syndrome |
|
Increased serum testosterone level, Precocious puberty, Abnormal endocrine physiology, Abnormalit... |
ORPHA:562 |
Temple Syndrome |
|
Precocious puberty, Type II diabetes mellitus, Decreased response to growth hormone stimulation t... |
ORPHA:254516 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... |
ORPHA:168558 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... |
ORPHA:289548 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Growth delay, Decreased circulating T4 concentration... |
ORPHA:90674 |
Congenital Disorder Of Glycosylation, Type Iiq |
|
Small pituitary gland |
OMIM:617395 |
Thyrotropin-Releasing Hormone Deficiency |
|
Hypothyroidism, Short stature, Hypothalamic hypothyroidism |
OMIM:275120 |
Satoyoshi Syndrome |
|
Amenorrhea, Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Sh... |
ORPHA:3130 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Dysmenorrhea, Bifid scrotum, Small for gestational age, Hypospadias, Hypothyroidism, Postnatal gr... |
ORPHA:397590 |
Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus, Primary amenorrhea, Short stature |
OMIM:617690 |
Hypersecretion Of Adrenal Androgens, Familial |
|
Adrenal overactivity, Premature pubarche, Increased circulating androgen concentration, Amenorrhea |
OMIM:145295 |
Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
|
Goiter, Increased circulating free T3, Impaired sensitivity to thyroid hormone |
OMIM:188570 |
Ring Chromosome 21 Syndrome |
|
Amenorrhea, Infertility, Short stature, Azoospermia, Diabetes insipidus |
ORPHA:1445 |
Familial Thyroid Dyshormonogenesis |
|
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... |
ORPHA:95716 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Hypothyroidism, Uterus didelphys, Hypoplasia of penis, Short stature |
ORPHA:2491 |
Congenital Hypothyroidism |
|
Abnormality of the thyroid gland, Short stature, Thyroid dysgenesis, Anterior hypopituitarism, Hy... |
ORPHA:442 |
Thyroid Dyshormonogenesis 6 |
|
Hypothyroidism, Congenital hypothyroidism |
OMIM:607200 |
Frasier Syndrome |
|
Ambiguous genitalia, male, Gonadal dysgenesis with female appearance, male, Streak ovary, Hypergo... |
ORPHA:347 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Abnormal calcium-phosphate regulating hormone level, Decreased circulating al... |
ORPHA:3453 |
Spermatogenic Failure 29 |
|
Azoospermia |
OMIM:618091 |
Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
Spermatogenic Failure 14 |
|
Azoospermia |
OMIM:615842 |
Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
Kallmann Syndrome |
|
Dyspareunia, Hypoplasia of penis, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, ... |
ORPHA:478 |
Li-Campeau Syndrome |
|
Hypothyroidism, Cryptorchidism, Short stature, Micropenis |
OMIM:619189 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Ectopic posterior pituitary |
OMIM:613986 |
Premature Ovarian Failure 1 |
|
Increased circulating gonadotropin level, Irregular menstruation, Premature ovarian insufficiency |
OMIM:311360 |
48,Xxyy Syndrome |
|
Infertility, Type II diabetes mellitus, Hypoplasia of penis, Hypergonadotropic hypogonadism, Decr... |
ORPHA:10 |
Pseudohypoparathyroidism, Type Ia |
|
Short stature, Elevated circulating parathyroid hormone level, Hypothyroidism, Hypogonadism, Obes... |
OMIM:103580 |
Lig4 Syndrome |
|
Amenorrhea, Failure to thrive, Micropenis, Hypothyroidism, Cryptorchidism |
OMIM:606593 |
Fetal Iodine Syndrome |
|
Hypothyroidism |
ORPHA:1910 |
48,Xyyy Syndrome |
|
Azoospermia, Male hypogonadism, Primary gonadal insufficiency |
ORPHA:99329 |
Orthostatic Hypotension 1 |
|
Retrograde ejaculation, Reduced circulating prolactin concentration |
OMIM:223360 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Hypothyroidism, Growth delay, Cryptorchidism, Hypothalamic hamartoma |
OMIM:619908 |
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome |
|
Adrenocorticotropic hormone deficiency, Decreased response to growth hormone stimulation test, Go... |
ORPHA:231720 |
Pseudohypoparathyroidism Type 1A |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:79443 |
Premature Ovarian Failure 8 |
|
Ovarian neoplasm, Streak ovary, Elevated circulating luteinizing hormone level, Primary amenorrhe... |
OMIM:615723 |
Oocyte Maturation Defect 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Oocyte Maturation Defect 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Hypogonadism, Male |
|
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis |
OMIM:241100 |
Familial Male-Limited Precocious Puberty |
|
Precocious puberty, Oligospermia, Long penis, Male infertility, Macroorchidism |
ORPHA:3000 |
Congenital Atransferrinemia |
|
Hypothyroidism |
ORPHA:1195 |
Premature Ovarian Failure 9 |
|
Amenorrhea, Increased circulating gonadotropin level, Premature ovarian insufficiency |
OMIM:615724 |
Kennedy Disease |
|
Erectile dysfunction, Testicular atrophy, Type II diabetes mellitus, Decreased fertility |
ORPHA:481 |
4H Leukodystrophy |
|
Decreased response to growth hormone stimulation test, Short stature, Hypogonadotropic hypogonadi... |
ORPHA:289494 |
46,Xx Sex Reversal 2 |
|
Sex reversal, Hypoplasia of the uterus, Decreased serum testosterone concentration, Micropenis, B... |
OMIM:278850 |
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Small pituitary gland, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptorchidism |
OMIM:612702 |
Pituitary Hormone Deficiency, Combined, 3 |
|
Gonadotropin deficiency, Anterior hypopituitarism, Decreased response to growth hormone stimulati... |
OMIM:221750 |
Androgen Insensitivity, Partial |
|
Infertility, Bifid scrotum, Micropenis, Male pseudohermaphroditism, Absent vas deferens, Hypogona... |
OMIM:312300 |
Oocyte Maturation Defect 8 |
|
Female infertility |
OMIM:619009 |
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Hypothyroidism, Cryptorchidism |
OMIM:613970 |
Premature Ovarian Failure 17 |
|
Elevated circulating luteinizing hormone level, Decreased inhibin B level, Decreased serum estrad... |
OMIM:619146 |
Oocyte Maturation Defect 12 |
|
Female infertility |
OMIM:619697 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Weight loss, Cachexia |
ORPHA:298 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Amenorrhea, Infertility, Testicular atrophy, Decreased serum testosterone concentration, Hypogona... |
ORPHA:465508 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Hypothyroidism |
OMIM:619647 |
Alstrom Syndrome |
|
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Short stature, Hypergona... |
OMIM:203800 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Abnormality of thyroid physiology, Decreased thyroid-stimulating hormone level, Decreased circula... |
ORPHA:95715 |
Polyembryoma |
|
Increased serum serotonin, Abnormality of the endocrine system, Increased serum testosterone leve... |
ORPHA:180229 |
Galloway-Mowat Syndrome 6 |
|
Decreased body weight, Decreased response to growth hormone stimulation test, Short stature, Hypo... |
OMIM:618347 |
Amed Syndrome, Digenic |
|
Adrenal hypoplasia, Hypoplasia of the uterus, Failure to thrive, Short stature |
OMIM:619151 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Spermatocele, Obstructive azoospermia, Male infertility |
OMIM:301060 |
Pituitary Gigantism |
|
Increased circulating insulin-like growth factor 1 concentration, Pituitary growth hormone cell a... |
ORPHA:99725 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyperactive renin-angiotensin system, Ambiguous genitalia, female, Miscarriage, Abnormal external... |
ORPHA:90794 |
Spermatogenic Failure 65 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619712 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Intrauterine growth retardation, Disproportionate short-limb short stature, Decreased growth horm... |
OMIM:101800 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus, Short stature |
ORPHA:2578 |
Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Goiter, Secondary amenorrhea, Premature ovarian insufficiency |
OMIM:617175 |
Hemochromatosis, Type 1 |
|
Amenorrhea, Testicular atrophy, Impotence, Hypogonadotropic hypogonadism, Diabetes mellitus, Azoo... |
OMIM:235200 |
Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Short stature, Hypogonadism |
OMIM:618165 |
Intellectual Disability-Strabismus Syndrome |
|
Failure to thrive, Decreased response to growth hormone stimulation test, Micropenis, Short statu... |
ORPHA:363528 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Decreased circulating T4 concentration, Congenital hypothyroidism, Large for gestational age, Ele... |
ORPHA:226313 |
Bonnemann-Meinecke-Reich Syndrome |
|
Decreased response to growth hormone stimulation test, Short stature |
ORPHA:1261 |
Pituitary Dermoid And Epidermoid Cysts |
|
Amenorrhea, Enlarged pituitary gland, Panhypopituitarism, Oligospermia, Oligomenorrhea, Anterior ... |
ORPHA:91351 |
Thyroid Dyshormonogenesis 5 |
|
Hypothyroidism, Growth delay, Goiter |
OMIM:274900 |
Thyroid Dyshormonogenesis 4 |
|
Hypothyroidism, Growth delay, Goiter |
OMIM:274800 |
Premature Ovarian Failure 3 |
|
Secondary amenorrhea, Hypoplasia of the uterus, Premature ovarian insufficiency |
OMIM:608996 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Cryptorchidism, Midshaft hypospadias, Anterior hypopituitarism, Short stature |
ORPHA:2863 |
Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... |
ORPHA:983 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Short stature, Small for gestational age, Hypothyroidism, Delayed puberty, Growth delay, Cryptorc... |
OMIM:616817 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Impaired sensitivity to thyroid hormone, Increased body weight, Increased body mass index, Congen... |
OMIM:614450 |
Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Glucocortocoid... |
ORPHA:404 |
Spermatogenic Failure 56 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619515 |
Magel2-Related Prader-Willi-Like Syndrome |
|
External genital hypoplasia, Primary amenorrhea, Clitoral hypoplasia, Hypogonadism, Increased bod... |
ORPHA:398069 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Dexamethasone-... |
ORPHA:403 |
Premature Ovarian Failure 16 |
|
Reduced antral follicle count, Elevated circulating follicle stimulating hormone level, Decreased... |
OMIM:618723 |
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis |
|
Growth delay, Hypoplasia of penis, Congenital hypothyroidism, Decreased response to growth hormon... |
OMIM:601427 |
Idiopathic Congenital Hypothyroidism |
|
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 concentr... |
ORPHA:95717 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Hypoplasia of the uterus, Female infertility, Elevated circulating follicle stimulating hormone l... |
ORPHA:572333 |
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism |
|
Ambiguous genitalia, Anterior hypopituitarism |
OMIM:601016 |
Myxedema |
|
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Hypohidrosis, Goiter |
OMIM:255900 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Decreased circulating ACTH le... |
OMIM:615954 |
Aromatase Deficiency |
|
Type II diabetes mellitus, Ambiguous genitalia, female, Female infertility, Eunuchoid habitus, Hy... |
ORPHA:91 |
Premature Ovarian Failure 19 |
|
Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency |
OMIM:619245 |
Cortisone Reductase Deficiency 1 |
|
Infertility, Oligomenorrhea, Precocious puberty, Obesity |
OMIM:604931 |
Ovarian Dysgenesis 8 |
|
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated c... |
OMIM:618187 |
Deafness-Infertility Syndrome |
|
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... |
OMIM:611102 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Increased circulating cortisol level, Adrenal hyperplasia, Primary hypercortisolism, Macronodular... |
OMIM:219080 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Hypospadias, Congenital hypothyroidism, Diabetes mellitus, Obesity, Cryptorchidism, Mild short st... |
OMIM:614613 |
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
|
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Decreased response to ... |
ORPHA:67045 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Decreased circulating parathyroid hormone level, Decreased circulating aldost... |
OMIM:240300 |
Spermatogenic Failure 54 |
|
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... |
OMIM:619379 |
Blue Diaper Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 concentr... |
ORPHA:94086 |
Pallister-Hall Syndrome |
|
Central adrenal insufficiency, Hypothalamic hamartoma, Large for gestational age, Ambiguous genit... |
ORPHA:672 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus, Short stature |
OMIM:601076 |
X-Linked Intellectual Disability, Cabezas Type |
|
Hypoplasia of penis, Short stature, Cachexia, Decreased testicular size, Hypogonadism, Obesity, H... |
ORPHA:85293 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Hypothyroidism, Short stature |
OMIM:617763 |
Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Infertility, Goiter |
OMIM:617577 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Failure to thrive, Neonatal death, Hypothyroidism, Death in infancy, Cryptorchidism, Intrauterine... |
OMIM:608104 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Decreased response to growth hormone stimulation test, Micropenis, Hypospadias, Adrenal hypoplasi... |
OMIM:614732 |
Nephrotic Syndrome, Type 14 |
|
Adrenal insufficiency, Micropenis, Hypothyroidism, Hypogonadism, Cryptorchidism |
OMIM:617575 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Ambiguous genitalia, female, Decreased circulating cortisol level, Premature thelarche, Long peni... |
ORPHA:90795 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201910 |
Allan-Herndon-Dudley Syndrome |
|
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration |
OMIM:300523 |
Coffin-Siris Syndrome 9 |
|
Hypoplasia of the uterus, Decreased response to growth hormone stimulation test, Short stature, D... |
OMIM:615866 |
Septopreoptic Holoprosencephaly |
|
Central diabetes insipidus, Precocious puberty, Anterior hypopituitarism |
ORPHA:280195 |
Permanent Congenital Hypothyroidism |
|
Thyroid dysgenesis, Goiter, Hypothyroidism, Short stature |
ORPHA:226292 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Failure to thrive, Cryptorchidism, Precocious puberty, Congenital hypothyroidism |
OMIM:614736 |
Spermatogenic Failure 51 |
|
Microcephalic sperm head, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm mot... |
OMIM:619177 |
Hyperthyroxinemia, Dystransthyretinemic |
|
Euthyroid hyperthyroxinemia |
OMIM:145680 |
Hyperthyroxinemia, Familial Dysalbuminemic |
|
Euthyroid hyperthyroxinemia |
OMIM:615999 |
19Q13.11 Microdeletion Syndrome |
|
Failure to thrive, Supernumerary nipple, Bifid scrotum, Hypospadias, Cachexia, Growth delay, Cryp... |
ORPHA:217346 |
Young Syndrome |
|
Azoospermia |
OMIM:279000 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Adrenal hyperplasia, Primary hypercortisolism, Diabetes mellitus, Increased circulating cortisol ... |
OMIM:615830 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Adrenal insufficiency, Growth delay, Abnormality of the hypothalamus-pituitary axis, Hypothyroidi... |
ORPHA:300298 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Infertility, Type II diabetes mellitus, Pancreatitis, Delayed menarche, Oligomenorrhea, Hypothyro... |
ORPHA:412057 |
Gne Myopathy |
|
Hypothyroidism |
ORPHA:602 |
Maternal Uniparental Disomy Of Chromosome 9 |
|
Intrauterine growth retardation, Failure to thrive, Congenital hypothyroidism |
ORPHA:96183 |
Pallister-Hall Syndrome |
|
Precocious puberty, Distal urethral duplication, Decreased response to growth hormone stimulation... |
OMIM:146510 |
Oocyte Maturation Defect 11 |
|
Female infertility |
OMIM:619643 |
Oocyte Maturation Defect 7 |
|
Female infertility |
OMIM:618550 |
Oocyte Maturation Defect 6 |
|
Female infertility |
OMIM:618353 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Preimplantation Embryonic Lethality 1 |
|
Female infertility |
OMIM:616814 |
Oocyte Maturation Defect 1 |
|
Female infertility |
OMIM:615774 |
Brain-Lung-Thyroid Syndrome |
|
Hypoparathyroidism, Failure to thrive, Abnormality of the thyroid gland, Short stature, Thyroid d... |
ORPHA:209905 |
Cowden Syndrome 6 |
|
Hydrocele testis, Hyperthyroidism, Ovarian cyst, Hypothyroidism, Varicocele, Goiter, Thyroid aden... |
OMIM:615109 |
Cowden Syndrome 5 |
|
Hydrocele testis, Hyperthyroidism, Ovarian cyst, Hypothyroidism, Goiter, Thyroid adenoma, Thyroid... |
OMIM:615108 |
Poems Syndrome |
|
Abnormality of the endocrine system, Increased circulating prolactin concentration, Primary adren... |
ORPHA:2905 |
Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, male, Male pseudohermaphroditism, Testicular neoplasm, Aplasia/hypoplasia of... |
ORPHA:754 |
48,Xxxy Syndrome |
|
Infertility, Type II diabetes mellitus, Hypoplasia of penis, Decreased testicular size, Hypogonad... |
ORPHA:96263 |
Flynn-Aird Syndrome |
|
Cachexia, Primary adrenal insufficiency, Abnormality of the thyroid gland, Type II diabetes mellitus |
ORPHA:2047 |
46,Xy Sex Reversal 4 |
|
Sex reversal, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Agonadism, Gonadal dysgen... |
OMIM:154230 |
Athyreosis |
|
Hypothyroidism, Thyroid agenesis, Growth delay, Short stature |
ORPHA:95713 |
Rabson-Mendenhall Syndrome |
|
Increased serum testosterone level, Intrauterine growth retardation, Precocious puberty, Short st... |
ORPHA:769 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Goiter, Hyperthyroidism |
OMIM:613239 |
Pendred Syndrome |
|
Goiter, Compensated hypothyroidism, Thyroid carcinoma |
OMIM:274600 |
Aarskog-Scott Syndrome |
|
Failure to thrive, Testicular atrophy, Decreased serum testosterone concentration, Cryptorchidism... |
OMIM:305400 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Hypoplasia of the uterus, Short stature, Small for gestational age, Elevated circulating luteiniz... |
OMIM:618419 |
Rhabdomyosarcoma, Embryonal, 2 |
|
Ovarian thecoma, Multinodular goiter, Thyroid nodule, Goiter |
OMIM:180295 |
49,Xxxxy Syndrome |
|
Infertility, Type II diabetes mellitus, Hypoplasia of penis, Short stature, Decreased testicular ... |
ORPHA:96264 |
Thyroid Dyshormonogenesis 2A |
|
Hypothyroidism, Thyroid defect in oxidation and organification of iodide, Goiter |
OMIM:274500 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Polycystic ovaries, Precocious puberty |
ORPHA:2229 |
Adrenocortical Carcinoma |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Adrenocorticotropic h... |
ORPHA:1501 |
Wolfram Syndrome 1 |
|
Testicular atrophy, Hypothyroidism, Diabetes mellitus, Growth delay, Diabetes insipidus |
OMIM:222300 |
Pallister-Hall-Like Syndrome |
|
Death in infancy, Anterior hypopituitarism, Micropenis, Hypothalamic hamartoma |
OMIM:241800 |
Fetal Iodine Deficiency Disorder |
|
Congenital hypothyroidism, Congenital goiter |
OMIM:228355 |
Immunodeficiency 31C |
|
Short stature, Hypothyroidism, Delayed puberty, Diabetes mellitus, Growth delay |
OMIM:614162 |
Mccune-Albright Syndrome |
|
Pituitary adenoma, Precocious puberty, Elevated circulating growth hormone concentration, Hyperth... |
OMIM:174800 |
Satoyoshi Syndrome |
|
Amenorrhea, Hypoplasia of the uterus, Short stature |
OMIM:600705 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:202110 |
Bangstad Syndrome |
|
Severe short stature, Small for gestational age, Insulin-resistant diabetes mellitus, Primary gon... |
OMIM:210740 |
Giant Axonal Neuropathy |
|
Abnormality of the pituitary gland |
ORPHA:643 |
Genetic Transient Congenital Hypothyroidism |
|
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... |
ORPHA:226316 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pituitary adenoma, Pi... |
ORPHA:189439 |
Culler-Jones Syndrome |
|
Cryptorchidism, Micropenis, Short stature, Ectopic posterior pituitary, Hypogonadism, Hypopituita... |
OMIM:615849 |
Microform Holoprosencephaly |
|
Hypoplasia of penis, Short stature, Panhypopituitarism, Maternal diabetes, Hypothyroidism, Ambigu... |
ORPHA:280200 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Ovarian neoplasm, Cachexia, Testicular neoplasm, Weight loss |
ORPHA:83469 |
Boucher-Neuhauser Syndrome |
|
Hypogonadotropic hypogonadism, Decreased circulating gonadotropin concentration |
OMIM:215470 |
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum |
|
Primary hypothyroidism, Goiter |
OMIM:225040 |
Cowden Syndrome 1 |
|
Hydrocele testis, Hyperthyroidism, Ovarian cyst, Hypothyroidism, Varicocele, Goiter, Ovarian carc... |
OMIM:158350 |
Craniopharyngioma |
|
Growth delay, Enlarged pituitary gland, Type II diabetes mellitus, Postnatal growth retardation, ... |
ORPHA:54595 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Precocious puberty, Hyperinsulinemia, Short stature, Diabetic ketoacidosis, Small for gestational... |
OMIM:262190 |
Cog2-Cdg |
|
Small pituitary gland |
ORPHA:435934 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pituitary adenoma, In... |
ORPHA:189427 |
Erythrokeratodermia Variabilis |
|
Short stature, Weight loss, Abnormal testis morphology, Diabetes mellitus |
ORPHA:317 |
8P11.2 Deletion Syndrome |
|
Growth delay, Hypoplasia of penis, Short stature, Hypogonadotropic hypogonadism, Abnormality of t... |
ORPHA:251066 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Adrenal insufficiency, Adrenocorticotropic hormone deficiency, Decreased response to growth hormo... |
OMIM:609734 |
Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Hypothyroidism |
ORPHA:663 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Hypothyroidism, Diabetes mellitus, Hypogonadism |
ORPHA:98673 |
Microduplication Xp11.22P11.23 Syndrome |
|
Obesity, Precocious puberty |
ORPHA:217377 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypothyroidism, Hypopituitarism, Short stature |
OMIM:619013 |
46,Xy Sex Reversal 7 |
|
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Primary amenorrhe... |
OMIM:233420 |
Thyroid Dyshormonogenesis 1 |
|
Hypothyroidism, Growth delay, Goiter |
OMIM:274400 |
Leukodystrophy, Hypomyelinating, 24 |
|
Hypothyroidism, Severe short stature |
OMIM:619851 |
Thyroid Cancer, Nonmedullary, 1 |
|
Goiter, Papillary thyroid carcinoma, Non-medullary thyroid carcinoma |
OMIM:188550 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Follicular thyroid carcinoma, Goiter, Papillary thyroid carcinoma, Nodular goiter |
ORPHA:319487 |
Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Decreased circulating renin level, Hyperaldosteronism |
OMIM:613677 |
Mulibrey Nanism |
|
Cachexia, Intrauterine growth retardation, Short stature |
ORPHA:2576 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Hypoplasia of penis, Short stature, Bifid scrotum, Hypothyroidism, Cryptorchidism |
ORPHA:85321 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Adrenal insufficiency, Hyperaldosteronism, Adrenocorticotropic hormone excess |
OMIM:613743 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Failure to thrive, Small for gestational age, Hypospadias, Death in childhood, Hypothyroidism, Gr... |
OMIM:619147 |
Congenital Macroglossia |
|
Hypothyroidism |
ORPHA:2430 |
Multiple Endocrine Neoplasia Type 1 |
|
Increased serum serotonin, Pituitary growth hormone cell adenoma, Thymoma, Impotence, Intestinal ... |
ORPHA:652 |
Hawkinsinuria |
|
Hypothyroidism, Failure to thrive |
ORPHA:2118 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Cryptorchidism, Small for gestational age, Hypothyroidism, Bilateral cryptorchidism, Overweight |
OMIM:617796 |
Ring Chromosome 12 Syndrome |
|
Uterine leiomyoma, Small for gestational age, Glandular hypospadias, Hypothyroidism, Breast hypop... |
ORPHA:1439 |
Carney Complex |
|
Increased circulating insulin-like growth factor 1 concentration, Pituitary growth hormone cell a... |
ORPHA:1359 |
Kennerknecht syndrome |
|
Abdominal obesity, Agonadism, Hypoplasia of the uterus, Short stature |
OMIM:600908 |
Hypotonia-Cystinuria Syndrome |
|
Hypergonadotropic hypogonadism, Postnatal growth retardation, Failure to thrive, Decreased respon... |
OMIM:606407 |
Boomerang Dysplasia |
|
Severe short-limb dwarfism, Cryptorchidism, Decreased response to growth hormone stimulation test |
ORPHA:1263 |
Thymic Neuroendocrine Tumor |
|
Pituitary null cell adenoma, Pituitary adenoma, Increased circulating cortisol level, Neuroendocr... |
ORPHA:97289 |
Familial Hyperaldosteronism Type Iii |
|
Adrenal hyperplasia, Abnormal circulating renin, Glucocortocoid-insensitive primary hyperaldoster... |
ORPHA:251274 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Premature pubarche, Secondary amenorrhea, Short stature |
OMIM:612847 |
Deiodinase, iodothyronine, type I |
|
Goiter, Euthyroid hyperthyroxinemia |
OMIM:147892 |
Thyroid Hormone Plasma Membrane Transport Defect |
|
Goiter, Euthyroid hyperthyroxinemia |
OMIM:188560 |
Precocious Puberty, Central, 2 |
|
Premature thelarche, Premature pubarche |
OMIM:615346 |
Lig4 Syndrome |
|
Type II diabetes mellitus, Hypoplasia of penis, Hypothyroidism, Growth delay, Cryptorchidism |
ORPHA:99812 |
Medullary Thyroid Carcinoma |
|
Medullary thyroid carcinoma, Primary hyperparathyroidism, Pheochromocytoma, Elevated calcitonin, ... |
ORPHA:1332 |
Pediatric-Onset Graves Disease |
|
Failure to thrive, Graves disease, Increased circulating free T3, Hyperhidrosis, Increased circul... |
ORPHA:525731 |
19P13.12 Microdeletion Syndrome |
|
Precocious puberty, Hypospadias, Hypothyroidism, Obesity, Cryptorchidism, Intrauterine growth ret... |
ORPHA:254346 |
Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
|
Hypothyroidism, Short stature |
ORPHA:2349 |
Acrodysostosis With Multiple Hormone Resistance |
|
Elevated calcitonin, Intrauterine growth retardation, Decreased response to growth hormone stimul... |
ORPHA:280651 |
Precocious Puberty, Male-Limited |
|
Precocious puberty in males, Decreased testicular size |
OMIM:176410 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Panhypopituitarism, Anterior hypopituita... |
ORPHA:91350 |
Donohue Syndrome |
|
Precocious puberty, Hyperinsulinemia, Severe failure to thrive, Ovarian cyst, Long penis, Pancrea... |
OMIM:246200 |
Generalized Glucocorticoid Resistance Syndrome |
|
Infertility, Decreased circulating aldosterone level, Precocious puberty, Increased circulating c... |
ORPHA:786 |
Wolman Disease |
|
Adrenal insufficiency, Growth delay, Cachexia, Adrenal calcification |
ORPHA:75233 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Decreased circulating T4 concentration, Increased radioactive iodine uptake, Impaired sensitivity... |
ORPHA:90673 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hypothyroidism |
OMIM:619927 |
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors |
|
Euthyroid multinodular goiter, Papillary thyroid carcinoma |
OMIM:138800 |
Methimazole Embryofetopathy |
|
Hypothyroidism, Hypospadias, Abnormality of the thyroid gland, Intrauterine growth retardation |
ORPHA:1923 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Nodular goiter, Goiter, Papillary thyroid carcinoma |
ORPHA:97290 |
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Obesity, Postnatal growth retardation, Precocious puberty, Intrauterine growth retardation |
ORPHA:254525 |
Ascher Syndrome |
|
Hypothyroidism, Goiter |
ORPHA:1253 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Intrauterine growth retardation, Precocious puberty, Maturity-onset diabetes of the young, Postna... |
ORPHA:254531 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Hydrocele testis, Increased serum testosterone level, Congenital adrenal hyperplasia |
ORPHA:96181 |
Multiple Endocrine Neoplasia, Type Iv |
|
Pituitary adenoma, Elevated circulating growth hormone concentration, Parathyroid adenoma, Carcin... |
OMIM:610755 |
Srd5A3-Cdg |
|
Hypothyroidism, Decreased response to growth hormone stimulation test |
ORPHA:324737 |
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration |
|
Severe short stature, Decreased response to growth hormone stimulation test |
OMIM:225755 |
Igg4-Related Thyroid Disease |
|
Abnormality of the pituitary gland, Graves disease, Sialadenitis, Euthyroid goiter, Pancreatic fi... |
ORPHA:64744 |
Premature Ovarian Failure 11 |
|
Oligomenorrhea, Secondary amenorrhea, Elevated circulating follicle stimulating hormone level |
OMIM:616946 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Failure to thrive, Exocrine pancreatic insufficiency, Aplasia/Hypoplasia of the pancreas, Mild po... |
ORPHA:456312 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Precocious puberty, Short stature, Maturity-onset diabetes of the young, Small for gestational ag... |
ORPHA:96184 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Decreased response to growth hormone stimulation test, Short stature, Micropenis, Decreased testi... |
ORPHA:457240 |
Oculoskeletodental Syndrome |
|
Hypothyroidism, Cryptorchidism, Small for gestational age, Short stature |
OMIM:618440 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency |
|
Decreased body weight, Severe short stature, Decreased response to growth hormone stimulation tes... |
OMIM:618336 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Weight loss, Cachexia |
OMIM:612075 |
Allan-Herndon-Dudley Syndrome |
|
Small for gestational age, Short stature, Decreased body mass index, Cryptorchidism, Abnormality ... |
ORPHA:59 |
Ciliary Dyskinesia, Primary, 40 |
|
Azoospermia, Infertility, Absent outer dynein arms |
OMIM:618300 |
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Hypothyroidism, Delayed puberty, Short stature |
ORPHA:2994 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia, Death in infancy |
ORPHA:157973 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:613662 |
Congenital Generalized Lipodystrophy |
|
Amenorrhea, Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Oligomenorrhea, C... |
ORPHA:528 |
Thyroid Cancer, Nonmedullary, 4 |
|
Goiter, Non-medullary thyroid carcinoma |
OMIM:616534 |
Insulin Autoimmune Syndrome |
|
Weight loss, Hyperinsulinemic hypoglycemia, Insulin-resistant diabetes mellitus |
ORPHA:411593 |
Aredyld Syndrome |
|
Type II diabetes mellitus, Short stature, Cachexia, Type I diabetes mellitus, Intrauterine growth... |
ORPHA:1133 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia, Short stature |
ORPHA:1144 |
Cortisone Reductase Deficiency 2 |
|
Obesity, Premature pubarche |
OMIM:614662 |
Joubert Syndrome 38 |
|
Decreased response to growth hormone stimulation test, Ectopic posterior pituitary, Decreased ser... |
OMIM:619476 |
Prader-Willi Syndrome |
|
Hyperinsulinemia, External genital hypoplasia, Primary amenorrhea, Clitoral hypoplasia, Intrauter... |
OMIM:176270 |
African Trypanosomiasis |
|
Infertility, Abnormality of the endocrine system, Miscarriage, Abnormal prolactin level, Abnormal... |
ORPHA:3385 |
Multiple Endocrine Neoplasia, Type I |
|
Pituitary adenoma, Elevated circulating growth hormone concentration, Glucagonoma, Parathyroid ad... |
OMIM:131100 |
Martin-Probst Syndrome |
|
Chordee, Micropenis, Bifid scrotum, Short stature, Hypoplastic nipples, Hypothyroidism, Cryptorch... |
OMIM:300519 |
Diabetes Insipidus, Neurohypophyseal, X-Linked |
|
Central diabetes insipidus |
OMIM:304900 |
Microsporidiosis |
|
Thyroiditis, Prostatitis, Pancreatitis, Abnormal endometrium morphology, Urethritis, Cachexia, Ab... |
ORPHA:2552 |
Whipple Disease |
|
Hypothyroidism, Cachexia, Erectile dysfunction |
ORPHA:3452 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Decreased response to growth hormone stimulation test, Short stature |
OMIM:616430 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Decreased body weight, Small for gestational age, Severe postnatal growth retardation, Hypothyroi... |
ORPHA:391408 |
Mpi-Cdg |
|
Hypothyroidism, Failure to thrive, Hyperinsulinemic hypoglycemia |
ORPHA:79319 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Hypothyroidism, Failure to thrive, Overweight, Diabetes mellitus |
ORPHA:391372 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Goiter, Weight loss, Hyperthyroidism |
OMIM:188580 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Decreased serum testosterone concentration, Eunuchoid habitus, Elevated circulating luteinizing h... |
ORPHA:3044 |
Bloom Syndrome |
|
Growth delay, Type II diabetes mellitus, Postnatal growth retardation, Small for gestational age,... |
OMIM:210900 |
Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Decreased circulating renin level, Glucocortocoid-insensitive primary hypera... |
ORPHA:231580 |
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
|
Failure to thrive, Decreased response to growth hormone stimulation test, Short stature, Panhypop... |
OMIM:618922 |
Silver-Russell Syndrome 1 |
|
Decreased response to growth hormone stimulation test, Small for gestational age, Hypospadias, Te... |
OMIM:180860 |
Premature Ovarian Failure 14 |
|
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... |
OMIM:618014 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Precocious puberty, Gonadal dysgenesis, Hypogonadism, Growth delay, Cryptorchidism |
ORPHA:3306 |
Thyroid Lymphoma |
|
Hypothyroidism, Goiter, Hashimoto thyroiditis, Hyperthyroidism |
ORPHA:97285 |
Glutaric Aciduria Iii |
|
Failure to thrive, Goiter, Hyperthyroidism |
OMIM:231690 |
Multiple Endocrine Neoplasia Type 4 |
|
Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, N... |
ORPHA:276152 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
15Q24 Microdeletion Syndrome |
|
Failure to thrive, Decreased response to growth hormone stimulation test, Short stature, Small fo... |
ORPHA:94065 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Mullerian Aplasia And Hyperandrogenism |
|
Amenorrhea, Abnormality of the endocrine system, Aplasia/Hypoplasia of the fallopian tube, Aplasi... |
OMIM:158330 |
H Syndrome |
|
Amenorrhea, Micropenis, Short stature, Decreased testicular size, Diabetes mellitus, Delayed pube... |
ORPHA:168569 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Hypothyroidism, Hypohidrosis, Short stature |
ORPHA:1882 |
Smith-Magenis Syndrome |
|
Precocious puberty, Short stature, Hypothyroidism, Delayed puberty, Obesity, Failure to thrive in... |
ORPHA:819 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hypothyroidism, Goiter, Hashimoto thyroiditis |
ORPHA:83601 |
Dilated Cardiomyopathy With Ataxia |
|
Hypoplasia of penis, Hypothyroidism, Growth delay, Bilateral cryptorchidism, Perineal hypospadias... |
ORPHA:66634 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Uterine neoplasm, Thyroid carcinoma, Short stature, Cachexia, Neoplasm of the adrenal cortex, Has... |
ORPHA:109 |
Ohdo Syndrome, Sbbys Variant |
|
Hypothyroidism, Cryptorchidism |
OMIM:603736 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multinodular goiter |
ORPHA:2091 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Elevated circulating growth hormone concentration, Decreased serum insulin-like growth factor 1, ... |
ORPHA:85327 |
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies |
|
Multinodular goiter |
OMIM:138790 |
46,Xx Ovotesticular Disorder Of Sex Development |
|
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... |
ORPHA:2138 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Growth delay, Failure to thrive, Severe short stature, Thyroid dysgenesis, Ectopic thyroid, Hypot... |
ORPHA:3047 |
Monosomy 18Q |
|
Slender build, Failure to thrive, Short stature, Micropenis, Hypothyroidism, Secondary growth hor... |
ORPHA:1600 |
Christianson Syndrome |
|
Cachexia, Death in early adulthood |
ORPHA:85278 |
Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|