Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circul... |
OMIM:229070 |
Bardet-Biedl Syndrome 12 |
|
Obesity, Cognitive impairment, Hypogonadism |
OMIM:615989 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... |
OMIM:619326 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Micropenis, Decreased circulating follicle stimulatin... |
OMIM:614897 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Absence of pubertal development, Decreased circulating follicle stimulating hormone concentration... |
OMIM:619755 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypoplasia of the uterus, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulati... |
OMIM:614842 |
Kallmann Syndrome With Spastic Paraplegia |
|
Testicular atrophy, Leydig cell insensitivity to gonadotropin, Eunuchoid habitus, Micropenis, Hyp... |
OMIM:308750 |
Delayed Puberty, Self-Limited |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... |
OMIM:619613 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis |
ORPHA:488191 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona... |
OMIM:308700 |
Gordon Holmes Syndrome |
|
Infertility, Oligomenorrhea, Hypogonadotropic hypogonadism, Dementia |
OMIM:212840 |
Perrault Syndrome 4 |
|
Hypoplasia of the ovary, Hypoplasia of the uterus, Bicornuate uterus, Disproportionate tall statu... |
OMIM:615300 |
Bardet-Biedl Syndrome 5 |
|
External genital hypoplasia, Cognitive impairment, Micropenis, Hypogonadism, Obesity |
OMIM:615983 |
Oocyte Maturation Defect 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Bardet-Biedl Syndrome 10 |
|
Obesity, Cognitive impairment, Hypogonadism |
OMIM:615987 |
Oocyte Maturation Defect 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Oocyte Maturation Defect 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Prader-Willi syndrome (Type 1) |
|
Truncal obesity, Hypogonadism |
DECIPHER:14 |
Prader-Willi Syndrome (Type 2) |
|
Truncal obesity, Hypogonadism |
DECIPHER:53 |
Premature Ovarian Failure 19 |
|
Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency |
OMIM:619245 |
Bardet-Biedl Syndrome 11 |
|
Obesity, Hypogonadism |
OMIM:615988 |
Oocyte Maturation Defect 8 |
|
Female infertility |
OMIM:619009 |
Premature Ovarian Failure 7 |
|
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Gon... |
OMIM:612964 |
Oocyte Maturation Defect 12 |
|
Female infertility |
OMIM:619697 |
Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus, Primary amenorrhea, Delayed puberty |
OMIM:618117 |
Ovarian Dysgenesis 9 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... |
OMIM:619665 |
Ovarian Dysgenesis 2 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Secon... |
OMIM:300510 |
Premature Ovarian Failure 18 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... |
OMIM:619203 |
Asherman Syndrome |
|
Infertility, Dysmenorrhea, Metrorrhagia, Oligomenorrhea, Abnormality of the menstrual cycle, Decr... |
ORPHA:137686 |
Premature Ovarian Failure 6 |
|
Female infertility, Hypoplasia of the uterus, Streak ovary, Elevated circulating luteinizing horm... |
OMIM:612310 |
Polyendocrine-Polyneuropathy Syndrome |
|
Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Hypogonad... |
ORPHA:453533 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypoplasia of the uterus, Decreased serum testosterone concentration, Hypoplasia of the ovary, Mi... |
OMIM:614841 |
Premature Ovarian Failure 13 |
|
Amenorrhea, Female infertility, Hypoplasia of the uterus, Oligomenorrhea, Elevated circulating fo... |
OMIM:617442 |
Endometriosis, Susceptibility To, 1 |
|
Endometriosis, Dysmenorrhea, Decreased fertility |
OMIM:131200 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Micropenis, Hypogonadotropic hypogonadism, Absence of pubertal development, Primary amenorrhea, D... |
OMIM:614840 |
Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary, Irregular menstruation, Primary amenorrhea, Secondary ame... |
OMIM:617565 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Oocyte Maturation Defect 10 |
|
Female infertility |
OMIM:619176 |
Spinocerebellar Ataxia 32 |
|
Infertility, Testicular atrophy, Azoospermia, Cognitive impairment |
OMIM:613909 |
Syndromic X-Linked Intellectual Disability 7 |
|
Hypoplasia of penis, Micropenis, Hypogonadism, Obesity, Cryptorchidism |
ORPHA:85274 |
Oocyte Maturation Defect 11 |
|
Female infertility |
OMIM:619643 |
Oocyte Maturation Defect 7 |
|
Female infertility |
OMIM:618550 |
Preimplantation Embryonic Lethality 1 |
|
Female infertility |
OMIM:616814 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte Maturation Defect 6 |
|
Female infertility |
OMIM:618353 |
Oocyte Maturation Defect 1 |
|
Female infertility |
OMIM:615774 |
Osteomesopyknosis |
|
Infertility, Increased bone mineral density |
OMIM:166450 |
Spermatogenic Failure, X-Linked, 1 |
|
Sertoli cell-only phenotype, Obesity |
OMIM:305700 |
Bardet-Biedl Syndrome 16 |
|
Obesity, Cognitive impairment, External genital hypoplasia, Hypogonadism |
OMIM:615993 |
Spinocerebellar Ataxia Type 32 |
|
Azoospermia, Testicular atrophy, Male infertility, Cognitive impairment |
ORPHA:276183 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Gonadotr... |
OMIM:614837 |
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism |
|
Micropenis, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone con... |
OMIM:619761 |
Leptin Deficiency Or Dysfunction |
|
Micropenis, Primary amenorrhea, Decreased serum leptin, Decreased testicular size, Hypogonadism, ... |
OMIM:614962 |
Premature Ovarian Failure 3 |
|
Secondary amenorrhea, Hypoplasia of the uterus, Premature ovarian insufficiency |
OMIM:608996 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Infertility, Abnormal vagina morphology, Hypoplasia of the uterus, Decreased serum testosterone c... |
ORPHA:168563 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Testicular microlithiasis, Micropenis, Ovarian cyst, ... |
OMIM:228300 |
Invasive Mole |
|
Menometrorrhagia |
ORPHA:99925 |
Polycystic Ovary Syndrome 1 |
|
Amenorrhea, Obesity, Oligomenorrhea, Enlarged polycystic ovaries |
OMIM:184700 |
Xq27.3Q28 Duplication Syndrome |
|
Failure to thrive, Truncal obesity, Decreased testicular size, Hypogonadism, Cryptorchidism, Prem... |
ORPHA:261483 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Maturity-onset diabetes of the young, Obesity, Overweight, Diabetes mellitus |
OMIM:613375 |
Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Female infertility, Ambiguous genitalia, female, Ambiguous genitalia, m... |
ORPHA:261529 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Infertility, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased testicular ... |
OMIM:146110 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Impotence, Eunuchoid habitus, Primary amenorrhea, Secondary amenorrhea, Increased female libido, ... |
ORPHA:432 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Testicular atrophy, Decreased serum testosterone concentration, Delayed menarche, Hypogonadotropi... |
ORPHA:52901 |
46,Xy Sex Reversal 1 |
|
Sex reversal, Tall stature, Male pseudohermaphroditism, Abnormality of male external genitalia, P... |
OMIM:400044 |
Cortisone Reductase Deficiency 1 |
|
Infertility, Precocious puberty, Oligomenorrhea, Obesity |
OMIM:604931 |
Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Small for gestational age, Hypospadias, Dec... |
ORPHA:1916 |
Narcolepsy Type 1 |
|
Transient global amnesia, Obesity |
ORPHA:2073 |
Familial Hyperprolactinemia |
|
Amenorrhea, Infertility, Oligomenorrhea, Menorrhagia, Hemorrhagic ovarian cyst, Female hypogonadism |
ORPHA:397685 |
Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus, Primary amenorrhea |
OMIM:617690 |
Adenomyosis |
|
Adenomyosis, Dysmenorrhea |
OMIM:600458 |
Meningioma |
|
Impotence, Decreased circulating cortisol level, Neoplasm of the posterior pituitary, Abnormal hy... |
ORPHA:2495 |
Hyperostosis Frontalis Interna |
|
Increased circulating prolactin concentration, Obesity, Irregular menstruation, Diabetes mellitus |
OMIM:144800 |
Bardet-Biedl Syndrome 18 |
|
Obesity, Cognitive impairment |
OMIM:615995 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Obesity, Cryptorchidism, Emotional lability |
OMIM:309585 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Micropenis, Hypogonadotropic hypogonadism, Absence of pubertal development, Primary amenorrhea, D... |
OMIM:610628 |
Premature Ovarian Failure 2B |
|
Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency, Tall stature |
OMIM:300604 |
46,Xy Sex Reversal 11 |
|
Urogenital sinus anomaly, Decreased serum testosterone concentration, Gonadal dysgenesis with fem... |
OMIM:273250 |
Perrault Syndrome 3 |
|
Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Primary amenorrhea |
OMIM:614129 |
Hyperprolactinemia |
|
Increased circulating prolactin concentration, Infertility, Oligomenorrhea, Menorrhagia |
OMIM:615555 |
Pituicytoma |
|
Amenorrhea, Abnormality of the pituitary gland, Impotence, Decreased serum testosterone concentra... |
ORPHA:251623 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Decreased fertility in males, Decreased circulating androgen concentration, Hypergonadotropic hyp... |
ORPHA:90796 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity, Cognitive impairment |
OMIM:619058 |
Ovarian Dysgenesis 4 |
|
Decreased serum estradiol, Decreased body weight, Primary amenorrhea, Elevated circulating follic... |
OMIM:616185 |
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Hypergonadotropic hypogonadism, Primary amenorrhea, Gonadal dysgenesis |
OMIM:607080 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Large for gestational age, Aggressive behavior |
ORPHA:356996 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Band keratopathy, Corneal dystrophy |
OMIM:300779 |
Complete Androgen Insensitivity Syndrome |
|
Increased serum testosterone level, Blind vagina, Increased antimullerian hormone level, Tall sta... |
ORPHA:99429 |
Bardet-Biedl Syndrome 19 |
|
Obesity, External genital hypoplasia, Hypogonadism |
OMIM:615996 |
Estrogen Resistance |
|
Hyperinsulinemia, Hypoplasia of the uterus, Primary amenorrhea |
OMIM:615363 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... |
ORPHA:179494 |
Premature Ovarian Failure 15 |
|
Oligomenorrhea |
OMIM:618096 |
Spermatogenic Failure 15 |
|
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... |
OMIM:616950 |
Premature Ovarian Failure 1 |
|
Increased circulating gonadotropin level, Irregular menstruation, Premature ovarian insufficiency |
OMIM:311360 |
Hypogonadism, Male |
|
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis |
OMIM:241100 |
Estrogen Resistance Syndrome |
|
Hyperinsulinemia, Hypoplasia of the uterus, Tall stature, Absence of pubertal development, Primar... |
ORPHA:785 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Large for gestational age, Abnormal circulating insulin concentration, Truncal obesity |
ORPHA:293964 |
Premature Ovarian Failure 9 |
|
Amenorrhea, Increased circulating gonadotropin level, Premature ovarian insufficiency |
OMIM:615724 |
Placental Site Trophoblastic Tumor |
|
Amenorrhea, Metrorrhagia |
ORPHA:99928 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Decreased re... |
ORPHA:226307 |
Biemond Syndrome Type 2 |
|
Hypogonadotropic hypogonadism, Hypospadias, Delayed puberty, Hypogonadism, Obesity |
ORPHA:141333 |
Spermatogenic Failure 2 |
|
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... |
OMIM:108420 |
Hypersecretion Of Adrenal Androgens, Familial |
|
Amenorrhea, Premature pubarche, Increased circulating androgen concentration, Adrenal overactivity |
OMIM:145295 |
Leydig Cell Hypoplasia |
|
Abnormal external genitalia, Hypergonadotropic hypogonadism, Primary amenorrhea, Hyoplasia of the... |
ORPHA:755 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Abnormality of the thyroid gland, Type II diabetes mellitus, Hypoplasia of penis, Eunuchoid habit... |
ORPHA:2234 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Large for gestational age, Truncal obesity |
OMIM:240900 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia |
OMIM:256450 |
Müllerian Aplasia And Hyperandrogenism |
|
Abnormal vagina morphology, Increased serum testosterone level, Hypoplasia of the uterus, Primary... |
ORPHA:247768 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Abnormal circulating insulin concentration, Decreased circulating free T3, Increased circulating ... |
ORPHA:171706 |
Premature Ovarian Failure 2A |
|
Secondary amenorrhea, Premature ovarian insufficiency |
OMIM:300511 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypoplasia of the ovary, Decreased serum testosterone concentration, Hyperinsulinemia, Hypergonad... |
ORPHA:66628 |
Cataract-Microcornea Syndrome |
|
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy |
ORPHA:1377 |
Ovarian Dysgenesis 10 |
|
Hypoplasia of the ovary, Streak ovary, Elevated circulating luteinizing hormone level, Primary am... |
OMIM:619834 |
Ovarian Dysgenesis 1 |
|
Increased circulating gonadotropin level, Primary amenorrhea, Gonadal dysgenesis |
OMIM:233300 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Nesi... |
OMIM:601820 |
46,Xy Sex Reversal 3 |
|
Sex reversal, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Gonadal d... |
OMIM:612965 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Blind vagina, Ovarian cyst, Decreased circulating cortisol level, Primary amenorrhea, Abnormal re... |
ORPHA:90793 |
Bardet-Biedl Syndrome 4 |
|
Obesity, Cryptorchidism, External genital hypoplasia, Hypogonadism |
OMIM:615982 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Secondary amenorrhea... |
ORPHA:3085 |
Ring Dermoid Of Cornea |
|
Abnormal conjunctiva morphology, Abnormal cornea morphology, Corneal astigmatism, Conjunctival de... |
OMIM:180550 |
Bardet-Biedl Syndrome 22 |
|
Large for gestational age, Obesity, Hypogonadism |
OMIM:617119 |
Premature Ovarian Failure 5 |
|
Hypoplasia of the ovary, Streak ovary, Reduced antral follicle count, Primary amenorrhea, Seconda... |
OMIM:611548 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Micropenis, Primary amenorrhea, Decreased testicular size, Hypogonadism, Cryptorchidism |
OMIM:616030 |
Spermatogenic Failure, X-Linked, 2 |
|
Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Abdominal obesity, Decreased serum testosterone concentration, Cryptorchidism, Small for gestatio... |
OMIM:300869 |
Ovarian Dysgenesis 8 |
|
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated c... |
OMIM:618187 |
Kennedy Disease |
|
Testicular atrophy, Erectile dysfunction, Type II diabetes mellitus, Decreased fertility |
ORPHA:481 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Increased serum testo... |
OMIM:610489 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Obesity, Decreased fertility, Abnormal testis morphology, Hypogonadism |
ORPHA:2233 |
Premature Ovarian Failure 10 |
|
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypo... |
OMIM:612885 |
46,Xy Sex Reversal 7 |
|
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Primary amenorrhe... |
OMIM:233420 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Abnormal calcium-phosphate regulating hormone level, Precocious puberty, Hyperthyroidism, Cogniti... |
ORPHA:457059 |
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Obesity, Cryptorchidism, Hypoplasia of penis, Aplasia/Hypoplasia of the testes |
ORPHA:3055 |
Premature Ovarian Failure 8 |
|
Ovarian neoplasm, Streak ovary, Elevated circulating luteinizing hormone level, Primary amenorrhe... |
OMIM:615723 |
Central Precocious Puberty |
|
Premature thelarche, Isosexual precocious puberty, Overgrowth, Increased body weight, Increased c... |
ORPHA:759 |
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type) |
|
Amenorrhea, Depression, Anxiety, Premature ovarian insufficiency |
OMIM:619425 |
Leptin Receptor Deficiency |
|
Decreased response to growth hormone stimulation test, Hypergonadotropic hypogonadism, Aggressive... |
OMIM:614963 |
Lattice Corneal Dystrophy Type I |
|
Corneal scarring, Abnormal cornea morphology, Corneal opacity, Subepithelial corneal opacities, C... |
ORPHA:98964 |
Obesity Due To Sim1 Deficiency |
|
Obesity, Hyperinsulinemia, Memory impairment, Cognitive impairment |
ORPHA:369873 |
Obesity |
|
Increased waist to hip ratio, Obesity |
OMIM:601665 |
Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Dyspareunia, Dysmenorrhea, Metrorrhagia, Uterus didelphys, Abnormal uterine cervix morphology, Pa... |
ORPHA:3411 |
Premature Ovarian Failure 11 |
|
Secondary amenorrhea, Oligomenorrhea, Elevated circulating follicle stimulating hormone level |
OMIM:616946 |
Morbid Obesity And Spermatogenic Failure |
|
Infertility, Type II diabetes mellitus, Azoospermia, Oligospermia, Obesity |
OMIM:615703 |
Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
Bardet-Biedl Syndrome 8 |
|
Hypospadias, Obesity, Hypogonadism |
OMIM:615985 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Primary amenorrhea, Obesity |
OMIM:600955 |
Bardet-Biedl Syndrome 2 |
|
Diabetes mellitus, Obesity, External genital hypoplasia, Hypogonadism |
OMIM:615981 |
Hydatidiform Mole |
|
Enlarged uterus, Hyperthyroidism, Menometrorrhagia |
ORPHA:99927 |
Bardet-Biedl Syndrome 7 |
|
Obesity, Hypogonadism |
OMIM:615984 |
Adrenocortical Carcinoma |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Adrenocorticotropic h... |
ORPHA:1501 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Amenorrhea, Aplasia of the vagina, Hypoplasia of the uterus |
OMIM:277000 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal stromal edema, Descemet Membrane Folds, Corneal degeneration, Corneal dystrophy, Corneal ... |
OMIM:136800 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Progressive neurologic deterioration, Pancreatic... |
ORPHA:276608 |
Mehmo Syndrome |
|
Decreased response to growth hormone stimulation test, Micropenis, Small for gestational age, Agg... |
OMIM:300148 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Pi... |
ORPHA:189427 |
Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Small pituitary gland, Micropenis, Primary amenorrhea, Decreased testicular size, Cryptorchidism |
OMIM:614880 |
Prolactin Deficiency, Isolated |
|
Infertility, Irregular menstruation, Reduced circulating prolactin concentration |
OMIM:264110 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Obesity, Cryptorchidism, External genital hypoplasia, Hypogonadism |
ORPHA:363741 |
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone |
|
Decreased circulating luteinizing hormone level, Congenital adrenal hypoplasia, Cryptorchidism, M... |
OMIM:202150 |
Partial Androgen Insensitivity Syndrome |
|
Abnormal circulating estrogen level, Blind vagina, Primary amenorrhea, Ambiguous genitalia, Clito... |
ORPHA:90797 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypoplasia of the ovary, Reduced circulating prolactin concentration, Hypogonadotropic hypogonadi... |
ORPHA:2235 |
Satoyoshi Syndrome |
|
Amenorrhea, Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Ab... |
ORPHA:3130 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome |
|
Abnormal vagina morphology, Streak ovary, Hypospadias, Abnormality of the uterus, Gonadoblastoma,... |
OMIM:194072 |
Functioning Gonadotropic Adenoma |
|
Impotence, Ovarian cyst, Central diabetes insipidus, Pituitary gonadotropic cell adenoma, Enlarge... |
ORPHA:91348 |
Galactosemia |
|
Failure to thrive, Cognitive impairment, Oligomenorrhea, Primary amenorrhea, Secondary amenorrhea... |
ORPHA:352 |
Cortisone Reductase Deficiency 2 |
|
Obesity, Premature pubarche |
OMIM:614662 |
Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Female infertility |
OMIM:619938 |
Plin1-Related Familial Partial Lipodystrophy |
|
Infertility, Hyperinsulinemia, Oligomenorrhea, Abnormal circulating hormone concentration, Insuli... |
ORPHA:280356 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
External genital hypoplasia, Central adrenal insufficiency, Primary amenorrhea, Clitoral hypoplas... |
ORPHA:98754 |
Woodhouse-Sakati Syndrome |
|
Hyperinsulinemia, Hypoplasia of the uterus, Decreased serum testosterone concentration, Decreased... |
ORPHA:3464 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Pi... |
ORPHA:189439 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypoplasia of the ovary, Decreased serum testosterone concentration, Micropenis, Primary amenorrh... |
OMIM:618841 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
External genital hypoplasia, Central adrenal insufficiency, Primary amenorrhea, Clitoral hypoplas... |
ORPHA:98793 |
Seckel Syndrome 7 |
|
Hypoplasia of the uterus, Primary amenorrhea, Central hypothyroidism |
OMIM:614851 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Cryptorchidism, Primary amenorrhea, Decreased testicular size |
OMIM:614858 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
External genital hypoplasia, Central adrenal insufficiency, Primary amenorrhea, Clitoral hypoplas... |
ORPHA:177904 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Obesity, Reduced circulating prolactin concentration, Macroorchidism |
OMIM:264120 |
Androgen Insensitivity Syndrome |
|
Labial hypoplasia, Blind vagina, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:300068 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
External genital hypoplasia, Central adrenal insufficiency, Primary amenorrhea, Clitoral hypoplas... |
ORPHA:177901 |
Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Hypogonadism |
OMIM:618165 |
Peritoneal Cystic Mesothelioma |
|
Weight loss, Menorrhagia, Dyspareunia, Metrorrhagia |
ORPHA:168816 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Obesity, Cryptorchidism, Hypogonadism |
OMIM:601794 |
Classic Galactosemia |
|
Mental deterioration, Depression, Oligomenorrhea, Primary amenorrhea, Anxiety, Decreased fertilit... |
ORPHA:79239 |
46,Xy Partial Gonadal Dysgenesis |
|
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... |
ORPHA:251510 |
Microduplication Xp11.22P11.23 Syndrome |
|
Obesity, Precocious puberty |
ORPHA:217377 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Azoospermia, Abnormality of the hypothalamus-pituitary axis, Obesity |
ORPHA:2183 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pigmented micronodula... |
OMIM:610475 |
Adiposis Dolorosa |
|
Depression, Obesity, Anxiety |
OMIM:103200 |
Retinitis Pigmentosa |
|
Type II diabetes mellitus, Hyperinsulinemia, Hypoplasia of penis, Hypogonadism, Obesity, Abnormal... |
ORPHA:791 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Hypergonadotropic hypogonadism, Obesity, Primary amenorrhea, Memory impairment |
OMIM:619737 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Obesity, Hyperinsulinemia, Aggressive behavior |
ORPHA:329249 |
Post-Traumatic Pituitary Deficiency |
|
Amenorrhea, Infertility, Abnormal prolactin level, Decreased response to growth hormone stimulati... |
ORPHA:95619 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... |
ORPHA:71526 |
Ovarian Dysgenesis 3 |
|
Female infertility, Elevated circulating follicle stimulating hormone level, Elevated circulating... |
OMIM:614324 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypogonadotropic hypogonadism, Obesity, External genital hypoplasia |
ORPHA:177910 |
Mehmo Syndrome |
|
Hypoplasia of penis, External genital hypoplasia, Micropenis, Diabetes mellitus, Obesity, Cryptor... |
ORPHA:85282 |
46,Xx Sex Reversal 2 |
|
Sex reversal, Hypoplasia of the uterus, Decreased serum testosterone concentration, Bifid scrotum... |
OMIM:278850 |
Aromatase Deficiency |
|
Female infertility, Ambiguous genitalia, female, Type II diabetes mellitus, Eunuchoid habitus, Ta... |
ORPHA:91 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
Perrault Syndrome 2 |
|
Amenorrhea, Streak ovary |
OMIM:614926 |
Testicular Agenesis |
|
Urogenital sinus anomaly, Hypoplasia of the uterus, Absent testis, Absent external genitalia, Abn... |
ORPHA:325124 |
Non-Functioning Pituitary Adenoma |
|
Impotence, Decreased fertility in males, Central adrenal insufficiency, Erectile dysfunction, Hyp... |
ORPHA:91349 |
Prader-Willi-Like Syndrome |
|
External genital hypoplasia, Central adrenal insufficiency, Primary amenorrhea, Clitoral hypoplas... |
ORPHA:398073 |
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Primary amenorrhea |
OMIM:614839 |
Sim1-Related Prader-Willi-Like Syndrome |
|
External genital hypoplasia, Primary amenorrhea, Clitoral hypoplasia, Hypogonadism, Small scrotum... |
ORPHA:398079 |
Pituitary Stalk Interruption Syndrome |
|
Failure to thrive, Hypoplasia of penis, Abnormality of the hypothalamus-pituitary axis, Primary a... |
ORPHA:95496 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Amenorrhea, Female infertility, Hypoplasia of the uterus, Irregular menstruation, Increased circu... |
OMIM:110100 |
Glucocorticoid Resistance, Generalized |
|
Infertility, Irregular menstruation, Anxiety |
OMIM:615962 |
Satoyoshi Syndrome |
|
Amenorrhea, Hypoplasia of the uterus |
OMIM:600705 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Abnormal aggressive, impulsive or violent behavior, Aggre... |
ORPHA:3077 |
Magel2-Related Prader-Willi-Like Syndrome |
|
External genital hypoplasia, Primary amenorrhea, Clitoral hypoplasia, Hypogonadism, Increased bod... |
ORPHA:398069 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Obesity, Childhood-onset truncal obesity, Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:71529 |
Lig4 Syndrome |
|
Amenorrhea, Failure to thrive, Micropenis, Hypothyroidism, Cryptorchidism |
OMIM:606593 |
Macrosomia Adiposa Congenita |
|
Adrenocortical adenoma, Obesity, Large for gestational age |
OMIM:248100 |
Pseudohypoparathyroidism, Type Ic |
|
Cognitive impairment, Elevated circulating parathyroid hormone level, Hypothyroidism, Hypogonadis... |
OMIM:612462 |
Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Hyperinsulinemia, Tall stature |
OMIM:618406 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyperactive renin-angiotensin system, Ambiguous genitalia, female, Abnormal external genitalia, T... |
ORPHA:90794 |
Morgagni-Stewart-Morel Syndrome |
|
Abnormality of the endocrine system, Abnormality of the thyroid gland, Cognitive impairment, Depr... |
ORPHA:77296 |
Ovarian Fibrothecoma |
|
Increased serum testosterone level, Abnormal endometrium morphology, Metrorrhagia, Abnormal circu... |
ORPHA:314478 |
Premature Ovarian Failure 14 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated circulating follicle... |
OMIM:618014 |
Pituitary Gigantism |
|
Amenorrhea, Pituitary growth hormone cell adenoma, Increased circulating insulin-like growth fact... |
ORPHA:99725 |
Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal dystrophy, Corne... |
OMIM:613270 |
Insulinoma |
|
Transient global amnesia, Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsul... |
ORPHA:97279 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Abdominal obesity, Increased circulating cortisol level, Depression, Increased body weight, Macro... |
OMIM:615954 |
Prolactinoma |
|
Impotence, Dyspareunia, Decreased fertility in males, Central adrenal insufficiency, Erectile dys... |
ORPHA:2965 |
Polyembryoma |
|
Increased serum serotonin, Abnormality of the endocrine system, Increased serum testosterone leve... |
ORPHA:180229 |
Acromesomelic Dysplasia 3 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormon... |
OMIM:609441 |
Gray Platelet Syndrome |
|
Abnormality of the menstrual cycle |
ORPHA:721 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Increased serum testosterone level, Decreased circulating aldosterone level, Ambiguous genitalia,... |
OMIM:202010 |
Kallmann Syndrome |
|
Dyspareunia, Hypoplasia of penis, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, ... |
ORPHA:478 |
Wilson Disease |
|
Failure to thrive, Depression, Abnormality of the menstrual cycle, Hypersexuality, Aggressive beh... |
ORPHA:905 |
Amed Syndrome, Digenic |
|
Adrenal hypoplasia, Hypoplasia of the uterus, Failure to thrive |
OMIM:619151 |
48,Xxyy Syndrome |
|
Infertility, Type II diabetes mellitus, Hypoplasia of penis, Tall stature, Hypergonadotropic hypo... |
ORPHA:10 |
Hemochromatosis, Type 2A |
|
Amenorrhea, Infertility, Hypogonadotropic hypogonadism, Azoospermia |
OMIM:602390 |
Hypothyroidism, Central, With Testicular Enlargement |
|
Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Reduced circulating prol... |
OMIM:300888 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Amenorrhea, Infertility, Testicular atrophy, Apathy, Decreased serum testosterone concentration, ... |
ORPHA:465508 |
Frasier Syndrome |
|
Gonadal dysgenesis with female appearance, male, Ambiguous genitalia, male, Streak ovary, Hypergo... |
ORPHA:347 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Increased circulating cortisol level, Mental deterioration, Depression, Anxiety, Truncal obesity,... |
OMIM:219080 |
Woodhouse-Sakati Syndrome |
|
Hypoplasia of the uterus, Decreased serum testosterone concentration, Micropenis, Hypergonadotrop... |
OMIM:241080 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Increased serum testosterone level, Ambiguous genitalia, female, Precocious puberty, Decreased ci... |
ORPHA:90795 |
Amoebic Keratitis |
|
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal anterior chamber mo... |
ORPHA:67043 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Obesity, Cognitive impairment |
ORPHA:459033 |
Luscan-Lumish Syndrome |
|
Irregular menstruation, Anxiety, Overgrowth, Aggressive behavior, Polycystic ovaries, Obesity |
OMIM:616831 |
Pseudopseudohypoparathyroidism |
|
Obesity, Pseudohypoparathyroidism, Cognitive impairment |
OMIM:612463 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Amenorrhea, Abnormality of the urethra, Oligomenorrhea, Menorrhagia, Polycystic ovaries, Abnormal... |
ORPHA:2795 |
Mullerian Aplasia And Hyperandrogenism |
|
Amenorrhea, Abnormality of the endocrine system, Aplasia/Hypoplasia of the fallopian tube, Aplasi... |
OMIM:158330 |
Prader-Willi Syndrome |
|
External genital hypoplasia, Central adrenal insufficiency, Primary amenorrhea, Clitoral hypoplas... |
ORPHA:739 |
Vernal Keratoconjunctivitis |
|
Abnormal cornea morphology, Corneal neovascularization, Abnormal conjunctiva morphology, Punctate... |
ORPHA:70476 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Type II diabetes mellitus, Impaired sensitivity to thyroid hormone, Small for gestational age, Co... |
OMIM:274300 |
Hemochromatosis, Type 1 |
|
Amenorrhea, Testicular atrophy, Impotence, Hypogonadotropic hypogonadism, Diabetes mellitus, Azoo... |
OMIM:235200 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Impaired sensitivity to thyroid hormone, Increased body mass index, Congenital hypothyroidism, In... |
OMIM:614450 |
Pseudohypoparathyroidism, Type Ia |
|
Cognitive impairment, Elevated circulating parathyroid hormone level, Hypothyroidism, Hypogonadis... |
OMIM:103580 |
Lead Poisoning |
|
Infertility, Decreased male libido, Reduced sperm motility, Small for gestational age, Cognitive ... |
ORPHA:330015 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Corneal guttata, Corneal dystrophy, Inguinal hernia |
OMIM:609141 |
Corneal Endothelial Dystrophy |
|
Increased corneal thickness, Opacification of the corneal stroma, Corneal dystrophy, Abnormal Des... |
OMIM:217700 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus |
OMIM:601076 |
Kennerknecht syndrome |
|
Abdominal obesity, Agonadism, Hypoplasia of the uterus |
OMIM:600908 |
Congenital Generalized Lipodystrophy |
|
Amenorrhea, Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Proportionate tal... |
ORPHA:528 |
Boucher-Neuhauser Syndrome |
|
Hypogonadotropic hypogonadism, Decreased circulating gonadotropin concentration |
OMIM:215470 |
Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Corneal guttata, Corneal dystrophy, Corneal degeneration |
OMIM:610158 |
Aromatase Deficiency |
|
Hypergonadotropic hypogonadism, Primary amenorrhea, Ovarian cyst, Female pseudohermaphroditism |
OMIM:613546 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Female infertility, Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Eleva... |
ORPHA:572333 |
Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Obesity, Macroorchidism |
OMIM:300238 |
Temple Syndrome |
|
Precocious puberty, Type II diabetes mellitus, Decreased response to growth hormone stimulation t... |
ORPHA:254516 |
Hymen, Imperforate |
|
Amenorrhea, Hematocolpos, Imperforate hymen, Hydrocolpos |
OMIM:237100 |
Schaaf-Yang Syndrome |
|
Impulsivity, Micropenis, Hypogonadism, Obesity, Cryptorchidism, Failure to thrive in infancy, Ski... |
OMIM:615547 |
Limbal Stem Cell Deficiency |
|
Corneal scarring, Keratitis, Generalized opacification of the cornea, Corneal perforation, Cornea... |
ORPHA:171673 |
Corneal Dystrophy, Thiel-Behnke Type |
|
Corneal scarring, Corneal dystrophy, Juvenile epithelial corneal dystrophy |
OMIM:602082 |
Bardet-Biedl Syndrome 17 |
|
Obesity, Cognitive impairment, Micropenis, Hypogonadism |
OMIM:615994 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Corneal opacity, Band keratopathy, Thinning of Descemet membrane, Abnormal Descemet membrane morp... |
OMIM:122000 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Adrenocorticotropic hormone deficiency, Impotence, Precocious puberty, Decreased response to grow... |
ORPHA:91354 |
Cushing Disease |
|
Amenorrhea, Paradoxical increased cortisol secretion on dexamethasone suppression test, Abdominal... |
ORPHA:96253 |
46,Xy Sex Reversal 4 |
|
Sex reversal, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Agonadism, Gonadal dysgen... |
OMIM:154230 |
Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus |
OMIM:618078 |
Gangliocytoma |
|
Amenorrhea, Abnormality of the pituitary gland, Pituitary null cell adenoma, Impotence, Abnormal ... |
ORPHA:251937 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Decreased response to growth hormone stimulation test, Self-mutilation, Micropenis, Depression, A... |
ORPHA:457240 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Increased circulating cortisol level, Depression, Emotional lability, Adrenal hyperplasia, Primar... |
OMIM:615830 |
Bardet-Biedl Syndrome 6 |
|
External genital hypoplasia, Hypospadias, Diabetes mellitus, Vaginal atresia, Obesity |
OMIM:605231 |
Wagr Syndrome |
|
Obesity, Ambiguous genitalia, Cryptorchidism, Displacement of the urethral meatus |
ORPHA:893 |
Akt2-Related Familial Partial Lipodystrophy |
|
Oligomenorrhea, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycystic ovaries, ... |
ORPHA:79085 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Adrenal insufficiency, Adrenocorticotropic hormone deficiency, Decreased response to growth hormo... |
OMIM:609734 |
Bardet-Biedl Syndrome 9 |
|
Obesity, Irregular menstruation, Truncal obesity |
OMIM:615986 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Testicular atrophy, Hypergonadotropic hypogonadism, Depression, Primary amenorrhea, Secondary ame... |
OMIM:157640 |
Interstitial Cystitis |
|
Abnormal vagina morphology, Dyspareunia, Abnormal labia morphology, Abnormality of the urethra, A... |
ORPHA:37202 |
Lipodystrophy, Familial Partial, Type 3 |
|
Hyperinsulinemia, Type II diabetes mellitus, Oligomenorrhea, Primary amenorrhea, Maternal diabete... |
OMIM:604367 |
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 |
48,Xxxy Syndrome |
|
Infertility, Type II diabetes mellitus, Hypoplasia of penis, Tall stature, Irritability, Anxiety,... |
ORPHA:96263 |
Senior-Loken Syndrome 9 |
|
Obesity, Hypogonadism |
OMIM:616629 |
Brittle Cornea Syndrome 1 |
|
Abnormal cornea morphology, Dentinogenesis imperfecta, Keratoconus, Joint laxity, Keratoglobus, A... |
OMIM:229200 |
Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Central opacification of the cornea, Central corneal dystrophy, ... |
ORPHA:98962 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Congenital hypothyroidism |
ORPHA:88643 |
Aarskog-Scott Syndrome |
|
Failure to thrive, Testicular atrophy, Decreased serum testosterone concentration, Cryptorchidism... |
OMIM:305400 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Progressive neurologic deterioration, Large for ... |
ORPHA:263455 |
Urban-Rogers-Meyer Syndrome |
|
Obesity, Cryptorchidism, Hypoplasia of penis, Hypogonadism |
ORPHA:3409 |
Pituitary Adenoma 4, Acth-Secreting |
|
Abdominal obesity, Pituitary adenoma, Abnormal fear/anxiety-related behavior, Increased circulati... |
OMIM:219090 |
Popliteal Pterygium Syndrome |
|
Hypoplasia of the uterus, Bifid scrotum, Small scrotum, Hypoplasia of the vagina, Cryptorchidism,... |
OMIM:119500 |
Dermochondrocorneal Dystrophy |
|
Subepithelial corneal opacities, Irregular tarsal ossification, Anterior cortical cataract, Corne... |
OMIM:221800 |
Pituitary Adenoma 1, Multiple Types |
|
Pituitary growth hormone cell adenoma, Pituitary adenoma, Elevated circulating growth hormone con... |
OMIM:102200 |
Lipodystrophy, Familial Partial, Type 5 |
|
Diabetic ketoacidosis, Irregular menstruation, Decreased serum leptin, Decreased adiponectin level |
OMIM:615238 |
Myotonic Dystrophy 1 |
|
Cholelithiasis, Testicular atrophy, Hypogonadism |
OMIM:160900 |
Vaginal Atresia |
|
Bicornuate uterus, Imperforate hymen, Uterus didelphys, Primary amenorrhea, Cervicitis, Transvers... |
ORPHA:65681 |
Tsh-Secreting Pituitary Adenoma |
|
Impotence, Decreased fertility in males, Central adrenal insufficiency, Increased circulating pro... |
ORPHA:91347 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Medullary thyroid carcinoma, Neuroendocrine neoplasm, Neoplasm of the thymus, Secondary amenorrhe... |
ORPHA:99889 |
X-Linked Intellectual Disability, Shashi Type |
|
Obesity, Macroorchidism |
ORPHA:85286 |
Bardet-Biedl Syndrome |
|
Hypoplasia of the ovary, Hypoplasia of penis, Hypogonadism, Obesity, Cryptorchidism |
ORPHA:110 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Precocious puberty, Progressive language deterioration, Self-mutilation, Mental deterioration, Lo... |
ORPHA:163681 |
Adiposis Dolorosa |
|
Depression, Anxiety, Memory impairment, Hypothyroidism, Obesity |
ORPHA:36397 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Decreased circulating T4 concentration, Reduced circulating prolactin concentration, Depression, ... |
ORPHA:99832 |
Cidec-Related Familial Partial Lipodystrophy |
|
Oligomenorrhea, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycystic ovaries, ... |
ORPHA:435651 |
Anterior Segment Dysgenesis 2 |
|
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Posterior synechiae o... |
OMIM:610256 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Ambiguous genitalia, female, Streak ovary, Ambiguous genitalia, Abnormal internal genitalia, Bila... |
ORPHA:1772 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Female infertility, Premature ovarian insufficiency |
OMIM:619518 |
Hepatic Veno-Occlusive Disease |
|
Increased body weight |
ORPHA:890 |
Prader-Willi Syndrome |
|
Adrenal insufficiency, Infertility, Abdominal obesity, Type II diabetes mellitus, Hyperinsulinemi... |
OMIM:176270 |
Sheehan Syndrome |
|
Amenorrhea, Adrenocorticotropic hormone deficiency, Impotence, Dyspareunia, Central adrenal insuf... |
ORPHA:91355 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Corneal neovascularization, Developmental... |
OMIM:617315 |
Pseudohypoparathyroidism, Type Ib |
|
Elevated circulating parathyroid hormone level, Obesity, Pseudohypoparathyroidism |
OMIM:603233 |
Lipe-Related Familial Partial Lipodystrophy |
|
Oligomenorrhea, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycystic ovaries, ... |
ORPHA:435660 |
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures |
|
Obesity, Cryptorchidism |
OMIM:618822 |
Body Mass Index Quantitative Trait Locus 19 |
|
Obesity, Hyperinsulinemia, Increased serum leptin |
OMIM:617885 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Failure to thrive, Dysmenorrhea, Irregular menstruation, Oligomenorrhea, Delayed puberty, Polycys... |
ORPHA:264580 |
Pituitary Dermoid And Epidermoid Cysts |
|
Amenorrhea, Enlarged pituitary gland, Panhypopituitarism, Oligomenorrhea, Oligospermia, Anterior ... |
ORPHA:91351 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Increased body weight, Self-injurious behavior, Aggressive behavior, Micropenis |
OMIM:300860 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... |
ORPHA:79644 |
Bardet-Biedl Syndrome 3 |
|
Obesity, External genital hypoplasia |
OMIM:600151 |
Generalized Glucocorticoid Resistance Syndrome |
|
Infertility, Decreased circulating aldosterone level, Precocious puberty, Increased circulating c... |
ORPHA:786 |
Adenohypophysitis |
|
Amenorrhea, Adrenocorticotropic hormone deficiency, Impotence, Decreased male libido, Decreased s... |
ORPHA:95512 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome |
|
Anxiety, Aggressive behavior, Decreased testicular size, Emotional lability, Hypoplastic female e... |
OMIM:612469 |
Blue Diaper Syndrome |
|
Increased body weight, Elevated circulating thyroid-stimulating hormone concentration, Decreased ... |
ORPHA:94086 |
Panhypophysitis |
|
Amenorrhea, Adrenocorticotropic hormone deficiency, Impotence, Decreased male libido, Decreased s... |
ORPHA:95513 |
Smith-Magenis Syndrome |
|
Increased body weight, Head-banging, Abnormality of the thyroid gland, Self-mutilation |
OMIM:182290 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Dysmenorrhea, Irregular menstruation, Oligomenorrhea, Polycystic ovaries, Increased body weight |
ORPHA:79240 |
16P13.2 Microdeletion Syndrome |
|
Failure to thrive, Impulsivity, Micropenis, Aggressive behavior, Hypogonadism, Cryptorchidism, Ov... |
ORPHA:500055 |
Carney Complex |
|
Increased circulating insulin-like growth factor 1 concentration, Pituitary growth hormone cell a... |
ORPHA:1359 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Hypoplasia of the uterus, Small for gestational age, Elevated circulating luteinizing hormone lev... |
OMIM:618419 |
Wolfram Syndrome 2 |
|
Depression, Oligomenorrhea, Primary amenorrhea, Diabetes mellitus |
OMIM:604928 |
Insulin-Resistance Syndrome Type B |
|
Increased serum testosterone level, Hyperinsulinemia, Type II diabetes mellitus, Hyperinsulinemic... |
ORPHA:2298 |
Klippel-Trénaunay Syndrome |
|
Abnormality of the menstrual cycle, Tall stature |
ORPHA:90308 |
Generalized Eruptive Keratoacanthoma |
|
Abnormal cornea morphology, Conjunctivitis, Keratoconjunctivitis sicca |
ORPHA:411777 |
Wolfram Syndrome 1 |
|
Hypothyroidism, Diabetes insipidus, Testicular atrophy, Diabetes mellitus |
OMIM:222300 |
Primary Ciliary Dyskinesia |
|
Female infertility, Abnormal sperm motility, Male infertility |
ORPHA:244 |
Pseudohypoparathyroidism Type 1C |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:79444 |
Mody |
|
Abnormal circulating insulin concentration, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Pancr... |
ORPHA:552 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
Renal Cysts And Diabetes Syndrome |
|
Hypoplasia of the uterus, Atretic vas deferens, Bicornuate uterus, Reduced sperm motility, Maturi... |
OMIM:137920 |
Ulnar-Mammary Syndrome |
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Hypoplasia of penis, Hypoplastic nipples, Breast aplasia, Abnormality of the uterus, Delayed pube... |
ORPHA:3138 |
Steinert Myotonic Dystrophy |
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Cholelithiasis, Testicular atrophy, Impotence, Hyperinsulinemia, Hypergonadotropic hypogonadism, ... |
ORPHA:273 |
Bardet-Biedl Syndrome 1 |
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Abdominal obesity, Nephrogenic diabetes insipidus, Abnormality of the ovary, Micropenis, Truncal ... |
OMIM:209900 |
Coffin-Siris Syndrome 9 |
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Hypoplasia of the uterus, Decreased response to growth hormone stimulation test, Delayed puberty |
OMIM:615866 |
Non-Acquired Panhypopituitarism |
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Amenorrhea, Infertility, Ectopic anterior pituitary gland, Abnormal prolactin level, Decreased re... |
ORPHA:90695 |
Microcephalic Primordial Dwarfism, Dauber Type |
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Bilateral breast hypoplasia, Obesity, Primary amenorrhea |
ORPHA:319675 |
Narcolepsy 7 |
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Obesity, Type II diabetes mellitus |
OMIM:614250 |
Lesch-Nyhan Syndrome |
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Testicular atrophy, Self-injurious behavior |
OMIM:300322 |
Craniopharyngioma |
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Enlarged pituitary gland, Type II diabetes mellitus, Central adrenal insufficiency, Hypogonadotro... |
ORPHA:54595 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
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Chordee, Hypoplasia of the uterus, Micropenis, Hypospadias, Ovotestis, Clitoral hypertrophy |
OMIM:309801 |
Pseudohypoparathyroidism Type 1A |
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Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:79443 |
Sotos Syndrome |
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Tall stature, Overgrowth, Aggressive behavior, Increased body weight, Cryptorchidism |
OMIM:117550 |
Microphthalmia, Syndromic 9 |
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Cryptorchidism, Hypoplasia of the uterus, Bicornuate uterus |
OMIM:601186 |
Bardet-Biedl Syndrome 20 |
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Obesity, Bilateral cryptorchidism, Male hypogonadism, Micropenis |
OMIM:619471 |
Angioosteohypertrophic Syndrome |
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Abnormality of the menstrual cycle, Tall stature, Cognitive impairment |
ORPHA:2346 |
Acrodysostosis With Multiple Hormone Resistance |
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Elevated calcitonin, Cryptorchidism, Decreased response to growth hormone stimulation test, Eleva... |
ORPHA:280651 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Female infertility, Reduced bone mineral density, Osteopenia, Primary amenorrhea, Osteoporosis, S... |
ORPHA:99413 |
Turner Syndrome |
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Female infertility, Reduced bone mineral density, Osteopenia, Primary amenorrhea, Osteoporosis, S... |
ORPHA:881 |
Mosaic Monosomy X |
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Female infertility, Reduced bone mineral density, Osteopenia, Primary amenorrhea, Osteoporosis, S... |
ORPHA:99228 |
Monosomy X |
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Female infertility, Reduced bone mineral density, Osteopenia, Primary amenorrhea, Osteoporosis, S... |
ORPHA:99226 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
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Increased body weight |
ORPHA:64745 |
X-Linked Intellectual Disability, Snyder Type |
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Testicular atrophy, Disproportionate tall stature, Hypospadias, Abnormality of the Leydig cells, ... |
ORPHA:3063 |
Malakoplakia |
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Abnormality of the menstrual cycle, Orchitis, Prostate neoplasm |
ORPHA:556 |
African Trypanosomiasis |
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Infertility, Abnormality of the endocrine system, Impotence, Abnormal prolactin level, Abnormalit... |
ORPHA:3385 |
Peters-Plus Syndrome |
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Hypoplasia of the uterus, Decreased body weight, Hypospadias, Hypoplasia of the vagina, Clitoral ... |
OMIM:261540 |
Peters Plus Syndrome |
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Hypoplasia of the uterus, Hypospadias, Congenital hypothyroidism, Clitoral hypoplasia, Anterior h... |
ORPHA:709 |
Wiskott-Aldrich Syndrome |
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Hypoplasia of the thymus, Abnormality of the menstrual cycle |
ORPHA:906 |
Hellp Syndrome |
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Increased body weight |
ORPHA:244242 |
Hypermobile Ehlers-Danlos Syndrome |
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Depression, Abnormality of the menstrual cycle, Cystocele, Decreased fertility |
ORPHA:285 |