Spermatogenic Failure 28 |
|
Elevated circulating luteinizing hormone level, Decreased testicular size, Elevated circulating f... |
OMIM:618086 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Azoospermia, Obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermato... |
ORPHA:399805 |
Hypogonadism-Cataract Syndrome |
|
Hypogonadism, Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone l... |
OMIM:240950 |
Testicular Microlithiasis |
|
Testicular microlithiasis |
OMIM:610441 |
Testicular Torsion |
|
Testicular torsion, Torsion of appendix of testis |
OMIM:187400 |
Premature Ovarian Failure 10 |
|
Elevated circulating follicle stimulating hormone level, Azoospermia, Hypoplasia of the ovary, Pr... |
OMIM:612885 |
Premature Ovarian Failure 17 |
|
Decreased antimullerian hormone level, Elevated circulating follicle stimulating hormone level, D... |
OMIM:619146 |
Premature Ovarian Failure 16 |
|
Reduced antral follicle count, Premature ovarian insufficiency, Elevated circulating follicle sti... |
OMIM:618723 |
Leydig Cell Hypoplasia, Type I |
|
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level |
OMIM:238320 |
Testes, Rudimentary |
|
Decreased testicular size, Hypoplastic male external genitalia, Hypergonadotropic hypogonadism |
OMIM:273150 |
46,Xy Sex Reversal 11 |
|
Gonadal dysgenesis with female appearance, male, Vanishing testis, Aplasia of the uterus, Decreas... |
OMIM:273250 |
Precocious Puberty, Central, 1 |
|
Hypothyroidism, Isosexual precocious puberty, Elevated circulating luteinizing hormone level, Ele... |
OMIM:176400 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm morphology, Abnormal sperm tail morphology, Increased circulating gonadotropin lev... |
ORPHA:399808 |
Ovarian Dysgenesis 9 |
|
Decreased antimullerian hormone level, Elevated circulating follicle stimulating hormone level, H... |
OMIM:619665 |
Premature Ovarian Failure 14 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated circulating follicle... |
OMIM:618014 |
46,Xy Sex Reversal 5 |
|
Sex reversal, Elevated circulating follicle stimulating hormone level |
OMIM:613080 |
Premature Ovarian Failure 18 |
|
Secondary amenorrhea, Decreased antimullerian hormone level, Elevated circulating follicle stimul... |
OMIM:619203 |
Premature Ovarian Failure 7 |
|
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Clitoral hypertrop... |
OMIM:612964 |
Premature Ovarian Failure 6 |
|
Secondary amenorrhea, Streak ovary, Elevated circulating follicle stimulating hormone level, Fema... |
OMIM:612310 |
46,Xy Sex Reversal 3 |
|
Sex reversal, Elevated circulating follicle stimulating hormone level, Penoscrotal hypospadias, E... |
OMIM:612965 |
Premature Ovarian Failure 11 |
|
Secondary amenorrhea, Oligomenorrhea, Elevated circulating follicle stimulating hormone level |
OMIM:616946 |
46,Xy Sex Reversal 1 |
|
Sex reversal, Elevated circulating follicle stimulating hormone level, Gonadoblastoma, Abnormalit... |
OMIM:400044 |
Premature Ovarian Failure 1 |
|
Irregular menstruation, Premature ovarian insufficiency, Increased circulating gonadotropin level |
OMIM:311360 |
Premature Ovarian Failure 9 |
|
Amenorrhea, Premature ovarian insufficiency, Increased circulating gonadotropin level |
OMIM:615724 |
Spermatogenic Failure, X-Linked, 2 |
|
Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
Ovarian Dysgenesis 1 |
|
Gonadal dysgenesis, Primary amenorrhea, Increased circulating gonadotropin level |
OMIM:233300 |
Ovarian Dysgenesis 8 |
|
Hypoplastic labia majora, Elevated circulating luteinizing hormone level, Primary amenorrhea, Ele... |
OMIM:618187 |
Hypogonadism, Male |
|
Testicular atrophy, Micropenis, Male hypogonadism, Hypospadias |
OMIM:241100 |
Partial Chromosome Y Deletion |
|
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi... |
ORPHA:1646 |
Androgen Insensitivity Syndrome |
|
Elevated circulating follicle stimulating hormone level, Labial hypoplasia, Female external genit... |
OMIM:300068 |
Spermatogenic Failure 25 |
|
Azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
46,Xx Sex Reversal 1 |
|
Hypospadias, True hermaphroditism, Sex reversal, Elevated circulating follicle stimulating hormon... |
OMIM:400045 |
Premature Ovarian Failure 8 |
|
Ovarian neoplasm, Primary amenorrhea, Premature ovarian insufficiency, Increased circulating gona... |
OMIM:615723 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Azoospermia |
OMIM:619145 |
Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Non-obstructive a... |
OMIM:619528 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypospadias, Increased circulating progesterone, Aplasia of the uterus, Bifid scrotum, Elevated c... |
ORPHA:90793 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypospadias, Adrenal insufficiency, Elevated circulating follicle stimulating hormone level, Urog... |
ORPHA:251510 |
Spermatogenic Failure 12 |
|
Infertility, Abnormal male germ cell morphology, Azoospermia |
OMIM:615413 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Increased circulat... |
ORPHA:2410 |
Precocious Puberty, Male-Limited |
|
Precocious puberty in males, Decreased testicular size |
OMIM:176410 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... |
ORPHA:52901 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Absence of pubertal development, Micropenis, Primary amenorrhea, C... |
OMIM:614840 |
Spermatogenic Failure 51 |
|
Oligospermia, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm fla... |
OMIM:619177 |
Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Azoospermia |
OMIM:613909 |
Leydig Cell Hypoplasia |
|
Hypospadias, Secondary amenorrhea, Aplasia of the uterus, Abnormal external genitalia, Micropenis... |
ORPHA:755 |
Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Male infertility, Azoospermia |
ORPHA:276183 |
Myotonic Dystrophy 2 |
|
Oligospermia, Hypogonadism, Elevated circulating follicle stimulating hormone level, Diabetes mel... |
OMIM:602668 |
Spermatogenic Failure 54 |
|
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... |
OMIM:619379 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypospadias, Elevated circulating follicle stimulating hormone level, Ambiguous genitalia, male, ... |
ORPHA:90796 |
Spermatogenic Failure, X-Linked, 3 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:301059 |
46,Xx Testicular Disorder Of Sex Development |
|
Male hypogonadism, Decreased testicular size, Ambiguous genitalia, Polycystic ovaries |
ORPHA:393 |
Spermatogenic Failure 39 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618643 |
X-Linked Intellectual Disability, Van Esch Type |
|
Type II diabetes mellitus, Absence of secondary sex characteristics, Increased circulating gonado... |
ORPHA:163976 |
Spermatogenic Failure 56 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:619515 |
Spermatogenic Failure 40 |
|
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... |
OMIM:618664 |
Spermatogenic Failure 48 |
|
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia |
OMIM:619108 |
Spermatogenic Failure 8 |
|
Oligospermia, Azoospermia, Cryptozoospermia |
OMIM:613957 |
Functioning Gonadotropic Adenoma |
|
Oligospermia, Abnormal prolactin level, Increased serum testosterone level, Abnormality of the me... |
ORPHA:91348 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Reduced circulating prolactin concentration |
OMIM:264120 |
Spermatogenic Failure 1 |
|
Oligospermia, Male infertility, Cryptozoospermia |
OMIM:258150 |
Spermatogenic Failure 47 |
|
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella |
OMIM:619102 |
Testicular Agenesis |
|
Vanishing testis, Urethrovaginal fistula, Absent testis, Increased circulating gonadotropin level... |
ORPHA:325124 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Testicular dysgenesis, Gonadal dysgenesis with female appearance, male, Abnormal vagina morpholog... |
ORPHA:168563 |
Spermatogenic Failure 41 |
|
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella |
OMIM:618670 |
Male Infertility Due To Acephalic Spermatozoa |
|
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... |
ORPHA:529970 |
Spermatogenic Failure 58 |
|
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... |
OMIM:619585 |
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism |
|
Decreased response to growth hormone stimulation test, Panhypopituitarism, Hypothyroidism |
OMIM:300123 |
Testicular Regression Syndrome |
|
Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i... |
ORPHA:983 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Elevated circulating follicle stimulating hormone level, Type I diabetes mellitus, Breast aplasia... |
ORPHA:3044 |
Pituicytoma |
|
Increased circulating prolactin concentration, Amenorrhea, Hypogonadotropic hypogonadism, Pituita... |
ORPHA:251623 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Aplasia of the uterus, Abnormality of the Leydig cells, Elevated circulating follicle stimulating... |
ORPHA:168558 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Aplasia of the uterus, Abnormality of the Leydig cells, Elevated circulating follicle stimulating... |
ORPHA:289548 |
Spermatogenic Failure 2 |
|
Oligospermia, Azoospermia |
OMIM:108420 |
X-Linked Intellectual Disability, Cilliers Type |
|
Hypospadias, Absence of secondary sex characteristics, Increased circulating gonadotropin level, ... |
ORPHA:163971 |
Hyperprolactinemia |
|
Menorrhagia, Infertility, Oligomenorrhea, Increased circulating prolactin concentration |
OMIM:615555 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Increased circulating gonadotropin level, Hypogonadism, Cryptorchidism, Decreased testicular size... |
OMIM:300869 |
Spermatogenic Failure 11 |
|
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility |
OMIM:615081 |
Partial Androgen Insensitivity Syndrome |
|
Hypospadias, Increased antimullerian hormone level, Aplasia of the uterus, Increased serum testos... |
ORPHA:90797 |
Complete Androgen Insensitivity Syndrome |
|
Increased antimullerian hormone level, Aplasia of the uterus, Increased serum testosterone level,... |
ORPHA:99429 |
Spermatogenic Failure 30 |
|
Azoospermia, Cryptozoospermia |
OMIM:618110 |
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
Pituitary Adenoma 2, Growth Hormone-Secreting |
|
Pituitary adenoma, Elevated circulating growth hormone concentration |
OMIM:300943 |
Non-Functioning Pituitary Adenoma |
|
Adrenal insufficiency, Increased serum testosterone level, Abnormality of the menstrual cycle, De... |
ORPHA:91349 |
49,Xxxyy Syndrome |
|
External genital hypoplasia, Increased circulating gonadotropin level, Micropenis, Ambiguous geni... |
ORPHA:261534 |
Frasier Syndrome |
|
Gonadal dysgenesis with female appearance, male, Streak ovary, Gonadoblastoma, Increased circulat... |
ORPHA:347 |
Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Hypogonadism, Microcephaly |
OMIM:618165 |
Kennedy Disease |
|
Testicular atrophy, Type II diabetes mellitus, Erectile dysfunction, Decreased fertility |
ORPHA:481 |
Central Precocious Puberty |
|
Hypothalamic hamartoma, Isosexual precocious puberty, Premature thelarche, Increased circulating ... |
ORPHA:759 |
Aarskog-Scott Syndrome |
|
Testicular atrophy, Elevated circulating follicle stimulating hormone level, Bilateral cryptorchi... |
OMIM:305400 |
Pituitary Adenoma 1, Multiple Types |
|
Irregular menstruation, Increased serum insulin-like growth factor 1, Pituitary growth hormone ce... |
OMIM:102200 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Testicular atrophy, Azoospermia, Hypogonadotropic hypogonadism, Decreased circulating follicle st... |
OMIM:308700 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Adrenal insufficiency, Hypogonadism, Panhypopituitarism, Hypothyroidism, Reduced circulating prol... |
OMIM:262600 |
Prolactin Deficiency, Isolated |
|
Irregular menstruation, Infertility, Reduced circulating prolactin concentration |
OMIM:264110 |
Spermatogenic Failure 38 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618433 |
46,Xx Gonadal Dysgenesis |
|
Secondary amenorrhea, Aplasia/hypoplasia of the uterus, Streak ovary, Decreased serum estradiol, ... |
ORPHA:243 |
Post-Traumatic Pituitary Deficiency |
|
Abnormal prolactin level, Infertility, Amenorrhea, Hypogonadotropic hypogonadism, Pituitary hypot... |
ORPHA:95619 |
Kallmann Syndrome With Spastic Paraplegia |
|
Testicular atrophy, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hor... |
OMIM:308750 |
Perrault Syndrome 1 |
|
Gonadal dysgenesis, Primary amenorrhea, Increased circulating gonadotropin level |
OMIM:233400 |
49,Xyyyy Syndrome |
|
Azoospermia, External genital hypoplasia, Increased circulating gonadotropin level, Male hypogona... |
ORPHA:99330 |
Perrault Syndrome 4 |
|
Secondary amenorrhea, Oligomenorrhea, Hypoplasia of the ovary, Increased circulating gonadotropin... |
OMIM:615300 |
47,Xyy Syndrome |
|
Hypospadias, Oligospermia, Increased serum testosterone level, Macroorchidism, Azoospermia, Incre... |
ORPHA:8 |
Pituitary Carcinoma |
|
Increased circulating prolactin concentration, Enlarged pituitary gland, Diabetes insipidus, Pitu... |
ORPHA:300385 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Oligospermia, Hypospadias, Increased circulating progesterone, Adrenal hyperplasia, Fused labia m... |
ORPHA:95699 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Macroorchidism, Elevated circulating growth hormone concentration, Decreased serum insulin-like g... |
ORPHA:85327 |
Hypothyroidism, Central, With Testicular Enlargement |
|
Inappropriately normal thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-re... |
OMIM:300888 |
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy |
|
Elevated circulating luteinizing hormone level, Agenesis of corpus callosum, Elevated circulating... |
OMIM:618419 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Secondary amenorrhea, Lacrimal gland aplasia, Oligomenorrhea, Elevated circulating follicle stimu... |
ORPHA:572333 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Adrenal insufficiency, Sex reversal, Adrenocorticotropic hormone excess, Hyperaldosteronism |
OMIM:613743 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Oligomenorrhea, Pituitary hypothyroidism, Impotence, Adrenocorticotropic hormone deficiency, Cent... |
ORPHA:91354 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Infertility, Aplasia/hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Abse... |
ORPHA:2232 |
Pituitary Gigantism |
|
Type II diabetes mellitus, Increased serum insulin-like growth factor 1, Amenorrhea, Pituitary gr... |
ORPHA:99725 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy, Cerebral calcification |
OMIM:613987 |
Mccune-Albright Syndrome |
|
Increased circulating cortisol level, Pituitary adenoma, Hyperthyroidism, Hyperparathyroidism, El... |
OMIM:174800 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Insulin-resistant diabetes mellitus, Elevated circulating growth hormone concentration, Polycysti... |
ORPHA:90301 |
Pituitary Dermoid And Epidermoid Cysts |
|
Oligospermia, Increased circulating prolactin concentration, Enlarged pituitary gland, Oligomenor... |
ORPHA:91351 |
Estrogen Resistance Syndrome |
|
Absence of pubertal development, Absence of secondary sex characteristics, Increased circulating ... |
ORPHA:785 |
Prolactinoma |
|
Abnormality of the menstrual cycle, Decreased female libido, Abnormality of the pituitary gland, ... |
ORPHA:2965 |
X-Linked Acrogigantism |
|
Enlarged pituitary gland, Adrenocorticotropic hormone deficiency, Diabetes insipidus, Increased s... |
ORPHA:300373 |
Tsh-Secreting Pituitary Adenoma |
|
Goiter, Abnormality of the menstrual cycle, Decreased female libido, Abnormality of the pituitary... |
ORPHA:91347 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypogonadotropic hypogonadism, Secondary growth hormone deficiency, Absence of secondary sex char... |
ORPHA:2235 |
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome |
|
Pituitary hypothyroidism, Gonadotropin deficiency, Anterior pituitary hypoplasia, Hypothalamic lu... |
ORPHA:231720 |
Seckel Syndrome 10 |
|
Elevated circulating follicle stimulating hormone level, Acute pancreatitis, Diabetes mellitus, E... |
OMIM:617253 |
Multiple Endocrine Neoplasia, Type Iv |
|
Pancreatic endocrine tumor, Hashimoto thyroiditis, Pituitary adenoma, Carcinoid tumor, Primary hy... |
OMIM:610755 |
Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility |
ORPHA:48 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Hypospadias, Bifid scrotum, Ambiguous genitalia, female, Urogenital sinus anomaly, Ambiguous geni... |
ORPHA:1772 |
Pituitary Apoplexy |
|
Increased circulating prolactin concentration, Oligomenorrhea, Hypergonadotropic hypogonadism, In... |
ORPHA:95613 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hypospadias, Increased serum testosterone level, Premature adrenarche, Ambiguous genitalia, femal... |
ORPHA:90791 |
Hemochromatosis, Type 1 |
|
Testicular atrophy, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Diabetes mellitus, Im... |
OMIM:235200 |
Gangliocytoma |
|
Abnormal prolactin level, Amenorrhea, Decreased female libido, Abnormality of the pituitary gland... |
ORPHA:251937 |
Myotonic Dystrophy 1 |
|
Testicular atrophy, Cerebral atrophy, Cholelithiasis, Hypogonadism |
OMIM:160900 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
Multiple Endocrine Neoplasia Type 4 |
|
Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Pituitary corticotrop... |
ORPHA:276152 |
Panhypophysitis |
|
Increased circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Hashimoto ... |
ORPHA:95513 |
Ovarian Hyperstimulation Syndrome |
|
Increased serum testosterone level, Hemorrhagic ovarian cyst, Increased circulating gonadotropin ... |
ORPHA:64739 |
Adenohypophysitis |
|
Increased circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Hashimoto ... |
ORPHA:95512 |
Multiple Endocrine Neoplasia, Type I |
|
Adrenocortical adenoma, Adenoma sebaceum, Increased circulating cortisol level, Insulinoma, Thyro... |
OMIM:131100 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... |
ORPHA:79644 |
Chromosome Xq26.3 Duplication Syndrome |
|
Increased serum insulin-like growth factor 1, Pituitary adenoma, Hyperhidrosis, Hypopituitarism, ... |
OMIM:300942 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Amenorrhea, Increased circulating gonadotropin level, Female infertility, Premature ovarian insuf... |
OMIM:110100 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Diabetes insipidus, Hypogonadotropic hypogonadism, Pituitary hypothyroi... |
ORPHA:91350 |
Ppoma |
|
Adrenocortical adenoma, Increased circulating cortisol level, Neoplasm of the pancreas, Cholelith... |
ORPHA:97278 |
Non-Acquired Panhypopituitarism |
|
Abnormal prolactin level, Infertility, Amenorrhea, Hypogonadotropic hypogonadism, Pituitary hypot... |
ORPHA:90695 |
Mccune-Albright Syndrome |
|
Macroorchidism, Increased serum testosterone level, Increased circulating prolactin concentration... |
ORPHA:562 |
Grfoma |
|
Adrenocortical adenoma, Pheochromocytoma, Neoplasm of the thymus, Increased circulating cortisol ... |
ORPHA:97261 |
Vipoma |
|
Adrenocortical adenoma, Increased circulating cortisol level, Neoplasm of the pancreas, Increased... |
ORPHA:97282 |
Wolfram Syndrome 1 |
|
Testicular atrophy, Diabetes insipidus, Diabetes mellitus, Hypothyroidism, Cerebral atrophy |
OMIM:222300 |
Somatostatinoma |
|
Adrenocortical adenoma, Increased circulating cortisol level, Neoplasm of the pancreas, Medullary... |
ORPHA:97283 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Testicular atrophy, Infertility, Amenorrhea, Hypogonadotropic hypogonadism, Erectile dysfunction,... |
ORPHA:465508 |
Carney Complex, Type 1 |
|
Thyroid follicular hyperplasia, Thyroid carcinoma, Pituitary adenoma, Elevated circulating growth... |
OMIM:160980 |
Zollinger-Ellison Syndrome |
|
Elevated circulating parathyroid hormone level, Neuroendocrine neoplasm, Increased urinary cortis... |
ORPHA:913 |
Glucagonoma |
|
Adrenocortical adenoma, Increased circulating cortisol level, Neoplasm of the pancreas, Increased... |
ORPHA:97280 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Testicular atrophy, Secondary amenorrhea, Primary amenorrhea, Premature ovarian insufficiency, Hy... |
OMIM:157640 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Abnormal prolactin level, Infertility, Agenesis of corpus callosum, Amenorrhea, Septo-optic dyspl... |
ORPHA:95494 |
Van Esch-O'Driscoll Syndrome |
|
Cerebral atrophy, Microcephaly, Increased circulating gonadotropin level |
OMIM:301030 |
Multiple Endocrine Neoplasia Type 1 |
|
Thyroid carcinoma, Goiter, Increased circulating cortisol level, Insulinoma, Intestinal carcinoid... |
ORPHA:652 |
Carney Complex |
|
Oligospermia, Thyroid carcinoma, Sertoli cell neoplasm, Abnormal morphology of female internal ge... |
ORPHA:1359 |
Lesch-Nyhan Syndrome |
|
Testicular atrophy |
OMIM:300322 |
Fibrous Dysplasia Of Bone |
|
Precocious puberty in females, Thyroid carcinoma, Increased circulating cortisol level, Abnormali... |
ORPHA:249 |
Bronchial Neuroendocrine Tumor |
|
Increased serum serotonin, Increased circulating cortisol level, Pulmonary carcinoid tumor, Eleva... |
ORPHA:97287 |
Somatomammotropinoma |
|
Dysmenorrhea, Amenorrhea, Pituitary growth hormone cell adenoma, Hypogonadotropic hypogonadism, P... |
ORPHA:314769 |
Acromegaly |
|
Dysmenorrhea, Long penis, Pituitary growth hormone cell adenoma, Hypogonadotropic hypogonadism, A... |
ORPHA:963 |
X-Linked Intellectual Disability, Snyder Type |
|
Hypospadias, Testicular atrophy, Abnormality of the Leydig cells, Megalencephaly, Cerebral edema,... |
ORPHA:3063 |
Steinert Myotonic Dystrophy |
|
Testicular atrophy, Non-medullary thyroid carcinoma, Endometrial carcinoma, Secondary hyperparath... |
ORPHA:273 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Secondary amenorrhea, Abnormality of the ovary, Type II diabetes mellitus, Gonadoblastoma, High u... |
ORPHA:99413 |
Turner Syndrome |
|
Secondary amenorrhea, Abnormality of the ovary, Type II diabetes mellitus, Gonadoblastoma, High u... |
ORPHA:881 |
Mosaic Monosomy X |
|
Secondary amenorrhea, Abnormality of the ovary, Type II diabetes mellitus, Gonadoblastoma, High u... |
ORPHA:99228 |
Monosomy X |
|
Secondary amenorrhea, Abnormality of the ovary, Type II diabetes mellitus, Gonadoblastoma, High u... |
ORPHA:99226 |
Fanconi Anemia, Complementation Group D2 |
|
Prolonged G2 phase of cell cycle, Hydrocephalus, Patent ductus arteriosus |
OMIM:227646 |
Fanconi Anemia, Complementation Group C |
|
Prolonged G2 phase of cell cycle, Intrauterine growth retardation |
OMIM:227645 |
Fanconi Anemia, Complementation Group E |
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Prolonged G2 phase of cell cycle |
OMIM:600901 |
Duodenal Neuroendocrine Tumor |
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Insulinoma, Paraganglioma, Intestinal carcinoid, Glucagonoma, Elevated circulating growth hormone... |
ORPHA:100076 |
Fanconi Anemia, Complementation Group A |
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Prolonged G2 phase of cell cycle |
OMIM:227650 |
Pachydermoperiostosis |
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Elevated circulating growth hormone concentration, Hyperhidrosis |
ORPHA:2796 |
Pmm2-Cdg |
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Hypogonadotropic hypogonadism, Aplasia of the ovary, Elevated circulating thyroid-stimulating hor... |
ORPHA:79318 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
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Intrauterine growth retardation |
OMIM:616171 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
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Intrauterine growth retardation |
ORPHA:2518 |
Seckel Syndrome |
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Intrauterine growth retardation |
ORPHA:808 |