Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Increased circulating ACTH level, Ambiguous genitalia, Congenital adrenal hyperplasia |
OMIM:613571 |
Lipoid Congenital Adrenal Hyperplasia |
|
Hypospadias, Adrenogenital syndrome, Congenital adrenal hyperplasia |
OMIM:201710 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Infertility, Abnormal lymph node morphology |
OMIM:136580 |
Testicular Regression Syndrome |
|
Decreased testicular size, Absent testis, Abnormal morphology of female internal genitalia, Ambig... |
ORPHA:983 |
Ovarian Dysgenesis 2 |
|
Delayed puberty, Premature ovarian insufficiency, Primary amenorrhea, Hypoplasia of the uterus, H... |
OMIM:300510 |
Hypogonadism, Male |
|
Male hypogonadism, Testicular atrophy, Micropenis, Hypospadias |
OMIM:241100 |
46,Xy Sex Reversal 11 |
|
Decreased cirrculating antimullerian hormone circulation, Aplasia of the uterus, Primary amenorrh... |
OMIM:273250 |
Ovarian Dysgenesis 6 |
|
Primary amenorrhea, Absence of pubertal development, Hypoplasia of the uterus, Hypergonadotropic ... |
OMIM:618078 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Delayed puberty, Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Inc... |
ORPHA:90793 |
Leydig Cell Hypoplasia |
|
Ambiguous genitalia, Primary amenorrhea, Abnormal internal genitalia, Testicular gonadoblastoma, ... |
ORPHA:755 |
Uterine Anomalies |
|
Abnormality of the uterus, Bicornuate uterus |
OMIM:192000 |
Androgen Insensitivity Syndrome |
|
Delayed puberty, Aplasia/Hypoplasia of the fallopian tube, Cryptorchidism, Abnormal morphology of... |
ORPHA:754 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Ambiguous genitalia, Primary amenorrhea, Adrenogenital syndrome, Male pseudo... |
OMIM:202110 |
Spermatogenic Failure, X-Linked, 2 |
|
Azoospermia, Spermatogenesis maturation arrest, Testicular atrophy, Male infertility |
OMIM:309120 |
Complete Androgen Insensitivity Syndrome |
|
Delayed puberty, Increased serum testosterone level, Aplasia/Hypoplasia of the fallopian tube, Ap... |
ORPHA:99429 |
Premature Ovarian Failure 7 |
|
Premature ovarian insufficiency, Primary amenorrhea, Clitoral hypertrophy, Elevated circulating f... |
OMIM:612964 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Oligomenorrhea, Delayed puberty, Decreased testicular size, Bilateral breast hypoplasia, Testicul... |
ORPHA:52901 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Delayed puberty, Hypoplasia of the ovary, Cryptorchidism, Decreased testicular size, Decreased ci... |
OMIM:614841 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Adrenal hyperplasia, Increased circulating cortisol level |
OMIM:614190 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Impaired cortisol response to corticotropin releasing hormone stimulation test, Adrenal hyperplas... |
OMIM:201810 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Increased circulating androstenedione concentration, Premature adrenarche, Abnormal labia majora ... |
ORPHA:90791 |
46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Ambiguous genitalia, Clitoral hypertrophy, Elevated circulating follicle... |
OMIM:612965 |
Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level, Adrenogenital syndrome |
OMIM:103900 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Increased circulating androstenedione concentration, Increased serum testosterone level, Decrease... |
OMIM:202010 |
Partial Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, Primary amenorrhea, Fused labia majora, Bilateral cryptorchidism, Male infer... |
ORPHA:90797 |
Ovarian Dysgenesis 9 |
|
Delayed puberty, Hypoplasia of the ovary, Decreased cirrculating antimullerian hormone circulatio... |
OMIM:619665 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Cryptorchidism, Abnormal morphology of female internal genitalia, Ambiguous genitalia, Polycystic... |
ORPHA:2138 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Primary amenorrhea, Gonadal dysgenesis with female appearance, male, Gonadoblastoma, Testicular d... |
ORPHA:168563 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Adrenogenital syndrome, Hypospadias |
OMIM:201910 |
Premature Ovarian Failure 18 |
|
Hypoplasia of the ovary, Decreased cirrculating antimullerian hormone circulation, Premature ovar... |
OMIM:619203 |
Perrault Syndrome 6 |
|
Premature ovarian insufficiency, Primary amenorrhea, Hypoplasia of the uterus, Irregular menstrua... |
OMIM:617565 |
Ovarian Dysgenesis 7 |
|
Delayed puberty, Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Hyp... |
OMIM:618117 |
Premature Ovarian Failure 6 |
|
Premature ovarian insufficiency, Primary amenorrhea, Elevated circulating follicle stimulating ho... |
OMIM:612310 |
Autoimmune Polyendocrinopathy Type 1 |
|
Adrenal hyperplasia, Hypoparathyroidism, Decreased circulating aldosterone level, Increased circu... |
ORPHA:3453 |
Mullerian Aplasia And Hyperandrogenism |
|
Increased circulating androstenedione concentration, Aplasia of the fallopian tube, Primary ameno... |
OMIM:158330 |
Diethylstilbestrol Syndrome |
|
Decreased fertility in females, Cryptorchidism, Premature ovarian insufficiency, Micropenis, Abno... |
ORPHA:1916 |
Spinocerebellar Ataxia 32 |
|
Infertility, Azoospermia, Testicular atrophy |
OMIM:613909 |
Premature Ovarian Failure 13 |
|
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Hypoplasia of the uterus... |
OMIM:617442 |
Premature Ovarian Failure 3 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus |
OMIM:608996 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Decreased circulating ... |
OMIM:614837 |
Spinocerebellar Ataxia Type 32 |
|
Azoospermia, Testicular atrophy, Male infertility |
ORPHA:276183 |
Testicular Agenesis |
|
Absent testis, Micropenis, Ambiguous genitalia, Urethrovaginal fistula, Urogenital sinus anomaly,... |
ORPHA:325124 |
Kennedy Disease |
|
Decreased fertility, Erectile dysfunction, Type II diabetes mellitus, Testicular atrophy |
ORPHA:481 |
Generalized Glucocorticoid Resistance Syndrome |
|
Oligomenorrhea, Adrenal hyperplasia, Increased circulating ACTH level, Ambiguous genitalia, Front... |
ORPHA:786 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Adrenal hyperplasia, Diabetes mellitus, Increased circulating cortisol level, Alopecia, Primary h... |
OMIM:615830 |
Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Abnormal circulating renin, Glucocortocoid-insensitive primary hyperaldoster... |
ORPHA:404 |
Perrault Syndrome 3 |
|
Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Hypoplasia of the ut... |
OMIM:614129 |
Ovarian Dysgenesis 5 |
|
Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Hypoplasia of the ut... |
OMIM:617690 |
46,Xy Partial Gonadal Dysgenesis |
|
Delayed puberty, Ambiguous genitalia, Primary amenorrhea, Elevated circulating follicle stimulati... |
ORPHA:251510 |
46,Xy Sex Reversal 7 |
|
Dysgerminoma, Primary amenorrhea, Gonadoblastoma, Hypoplasia of the fallopian tube, Hypoplasia of... |
OMIM:233420 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Adrenal hyperplasia, Increased circulating ACTH level, Abnormal circulating androgen level, Femal... |
ORPHA:90790 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Testicular atrophy, Micropenis, Decreased circulating ... |
OMIM:308700 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Abnormal circulating renin, Dexamethasone-suppressible primary hyperaldoster... |
ORPHA:403 |
Kallmann Syndrome With Spastic Paraplegia |
|
Cryptorchidism, Testicular atrophy, Micropenis, Decreased circulating follicle stimulating hormon... |
OMIM:308750 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Delayed puberty, Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Hyp... |
ORPHA:90796 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Hypoplasia of the uterus, Decre... |
OMIM:614842 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Goiter, Nodular goiter, Papillary thyroid carcinoma, Chronic noninfectious lymphadenopathy, Abnor... |
ORPHA:319487 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Delayed puberty, Elevated circulating follicle stimulating hormone level, Male pseudohermaphrodit... |
ORPHA:289548 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Goiter, Nodular goiter, Papillary thyroid carcinoma, Chronic noninfectious lymphadenopathy, Abnor... |
ORPHA:97290 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Clitoral hypertrophy, Hydrocele testis, Increased serum testosterone level, Congenital adrenal hy... |
ORPHA:96181 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Generalized lymphadenopathy, Absent tonsils, Aplasia of the thymus, Alopecia of scalp, Genital ul... |
OMIM:602450 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Delayed puberty, Hypoplasia of the ovary, Cryptorchidism, Decreased testicular size, Micropenis, ... |
ORPHA:432 |
Müllerian Aplasia And Hyperandrogenism |
|
Increased serum testosterone level, Frontal balding, Primary amenorrhea, Abnormality of the ovary... |
ORPHA:247768 |
Satoyoshi Syndrome |
|
Hypoplasia of the ovary, Alopecia universalis, Abnormality of the ovary, Nephrogenic diabetes ins... |
ORPHA:3130 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Adrenal hyperplasia, Increased circulating cortisol level, Primary hypercortisolism, Decreased ci... |
OMIM:219080 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Delayed puberty, Elevated circulating follicle stimulating hormone level, Male pseudohermaphrodit... |
ORPHA:168558 |
Obsolete: Primary Pigmented Nodular Adrenocortical Disease |
|
Abnormal libido, Adrenal hyperplasia, Diabetes mellitus, Increased circulating cortisol level, Al... |
ORPHA:189439 |
Hydatidiform Mole |
|
Menometrorrhagia, Hyperthyroidism, Enlarged uterus |
ORPHA:99927 |
46,Xx Sex Reversal 2 |
|
Perineal hypospadias, Micropenis, Hypoplasia of the vagina, Hypoplasia of the uterus, Azoospermia... |
OMIM:278850 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Decreased fertility, Testicular atrophy |
OMIM:313200 |
Hemochromatosis, Type 1 |
|
Testicular atrophy, Diabetes mellitus, Alopecia, Splenomegaly, Azoospermia, Impotence, Amenorrhea... |
OMIM:235200 |
Perrault Syndrome 4 |
|
Oligomenorrhea, Hypoplasia of the ovary, Premature ovarian insufficiency, Primary amenorrhea, Hyp... |
OMIM:615300 |
Familial Hyperaldosteronism Type Iii |
|
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:251274 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Cryptorchidism, Gonadoblastoma, Streak ovary, Abnormality of the uterus, Abnormal vagina morpholo... |
OMIM:194072 |
Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level |
OMIM:613677 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Bone marrow hypocellularity, Testicular atrophy, Nail dystrophy |
OMIM:613987 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Abnormal libido, Hyperaldosteronism, Abnormal response to corticotropin releasing hormone stimula... |
ORPHA:189427 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Delayed puberty, Increased size of the clitoris, Ambiguous genitalia, Primary amenorrhea, Elevate... |
ORPHA:95699 |
Estrogen Resistance Syndrome |
|
Primary amenorrhea, Breast hypoplasia, Abnormality of the pubic hair, Hypoplasia of the uterus, H... |
ORPHA:785 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Increased urinary cortiso... |
OMIM:615954 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Amenorrhea, Aplasia of the vagina, Hypoplasia of the uterus |
OMIM:277000 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Increased circulating androstenedione concentration, Ambiguous genitalia, Fused labia majora, Inc... |
ORPHA:90794 |
Estrogen Resistance |
|
Delayed puberty, Increased circulating osteocalcin level, Primary amenorrhea, Polycystic ovaries,... |
OMIM:615363 |
Renal And Mullerian Duct Hypoplasia |
|
Anteriorly displaced urethral meatus, Aplasia of the uterus, Hydrocele testis |
OMIM:266810 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Increased size of the clitoris, Primary amenorrhea, Abnormality of the ovary,... |
ORPHA:2975 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Hypospadias, Adrenal gland agenesis, Ovotestis, Sex reversal |
OMIM:611812 |
Amed Syndrome, Digenic |
|
Bone marrow hypocellularity, Adrenal hypoplasia, Hypoplasia of the uterus |
OMIM:619151 |
Myotonic Dystrophy 1 |
|
Frontal balding, Cholelithiasis, Testicular atrophy, Hypogonadism |
OMIM:160900 |
Vaginal Atresia |
|
Uterus didelphys, Cervicitis, Primary amenorrhea, Imperforate hymen, Transverse vaginal septum, V... |
ORPHA:65681 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Adrenal hyperplasia, Hyperaldosteronism, Abnormal circulating renin, Dexamethasone-suppressible p... |
ORPHA:369929 |
Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Decreased circulating... |
ORPHA:231580 |
Woodhouse-Sakati Syndrome |
|
Decreased testicular size, Premature ovarian insufficiency, Micropenis, Diabetes mellitus, Fine h... |
OMIM:241080 |
Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Hypogonadism, Nail dystrophy |
OMIM:618165 |
Tetraamelia Syndrome 1 |
|
Asplenia, Hypoplasia of the fallopian tube, Absent external genitalia, Vaginal atresia, Adrenal g... |
OMIM:273395 |
Lumbar Syndrome |
|
Cryptorchidism, Micropenis, Ambiguous genitalia, Hypoplastic labia majora, Bifid uterus, Bifid sc... |
ORPHA:83628 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
Satoyoshi Syndrome |
|
Amenorrhea, Alopecia, Alopecia universalis, Hypoplasia of the uterus |
OMIM:600705 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Primary amenorrhea, Hypoparathyroidism, Septate vagina, Uterus didelphys, Aplasia of the vagina, ... |
OMIM:146255 |
Woodhouse-Sakati Syndrome |
|
Delayed puberty, Decreased testicular size, Premature ovarian insufficiency, Micropenis, Hypogona... |
ORPHA:3464 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Testicular atrophy, Diabetes mellitus, Splenomegaly, Infertility, Erectile dysfunction, Hypothyro... |
ORPHA:465508 |
Aarskog-Scott Syndrome |
|
Delayed puberty, Cryptorchidism, Testicular atrophy, Shawl scrotum, Elevated circulating follicle... |
OMIM:305400 |
Seckel Syndrome 7 |
|
Hypoplasia of the uterus, Primary amenorrhea, Central hypothyroidism |
OMIM:614851 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Diabetes mellitus, Increased circulating cortisol level, Medullary thyroid carcinoma, Increased u... |
ORPHA:99889 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus |
OMIM:601076 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Parathyroid hypoplasia, Diabetes mellitus, Hypoparathyroidism, Septate vagina, Vaginal atresia, U... |
ORPHA:2237 |
46,Xy Sex Reversal 4 |
|
Agonadism, Hypoplasia of the uterus, Hypoplastic labia majora, Hypergonadotropic hypogonadism, Se... |
OMIM:154230 |
Wolfram Syndrome 1 |
|
Diabetes mellitus, Diabetes insipidus, Testicular atrophy, Hypothyroidism |
OMIM:222300 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Hypoplasia of the uterus, Irregular menstruation, Highly arched ... |
OMIM:110100 |
Hydrolethalus Syndrome 1 |
|
Adrenal gland dysgenesis, Bifid uterus, Accessory spleen, Abnormal vagina morphology, Hypospadias |
OMIM:236680 |
Cushing Disease |
|
Abnormal libido, Adrenal hyperplasia, Increased circulating ACTH level, Oligomenorrhea, Diabetes ... |
ORPHA:96253 |
Meige Disease |
|
Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Absent axillary hair, Elevated circulating follicle stimulating hormone level, Hypoplasia of the ... |
OMIM:618419 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymph node hypoplasia, Absent tonsils |
ORPHA:276 |
Townes-Brocks Syndrome 2 |
|
Bifid uterus, Rectovaginal fistula, Hypospadias |
OMIM:617466 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Delayed puberty, Long eyelashes, Decreased response to growth hormone stimulation test, Hypoplasi... |
OMIM:615866 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Aplasia of the uterus, Hypoplasia of the vagina |
ORPHA:3109 |
Acromesomelic Dysplasia 3 |
|
Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Hypoplasia of the ut... |
OMIM:609441 |
Popliteal Pterygium Syndrome |
|
Cryptorchidism, Hypoplasia of the uterus, Hypoplastic labia majora, Small scrotum, Bifid scrotum,... |
OMIM:119500 |
Oeis Complex |
|
Absent scrotum, Cryptorchidism, Micropenis, Ambiguous genitalia, male, Epispadias, Labial hypopla... |
OMIM:258040 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Oligomenorrhea, Lacrimal gland aplasia, Lacrimal gland hypoplasia, Premature ovarian insufficienc... |
ORPHA:572333 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Testicular atrophy, Primary amenorrhea, Hypergonadotropic hypogo... |
OMIM:157640 |
Purine Nucleoside Phosphorylase Deficiency |
|
Lymph node hypoplasia, Splenomegaly |
OMIM:613179 |
Limb-Mammary Syndrome |
|
Bilateral breast hypoplasia, Primary amenorrhea, Hypoplastic nipples, Alopecia, Breast aplasia, S... |
ORPHA:69085 |
Chromosome 17Q12 Deletion Syndrome |
|
Cryptorchidism, Highly arched eyebrow, Ovarian cyst, Unicornuate uterus, Sparse eyebrow, Nail dys... |
OMIM:614527 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Supernumerary nipple, Low posterior hairline, Bifid uterus, Sparse eyebrow, Abnormal reproductive... |
ORPHA:1521 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
Agammaglobulinemia, X-Linked |
|
Lymph node hypoplasia, Prostatitis, Epididymitis |
OMIM:300755 |
Pontocerebellar Hypoplasia Type 7 |
|
Cryptorchidism, Micropenis, Ambiguous genitalia, Microphallus, Clitoral hypertrophy, Abnormal scr... |
ORPHA:284339 |
Meckel Syndrome 12 |
|
Vaginal atresia, Hypoplasia of the uterus |
OMIM:616258 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Vaginal atresia, Hypoplasia of the uterus |
OMIM:617914 |
Microphthalmia, Syndromic 9 |
|
Cryptorchidism, Hypoplastic spleen, Multilobulated spleen, Hypoplasia of the uterus, Bicornuate u... |
OMIM:601186 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Decreased circulating dehydroepiandrosterone concentration, Ambiguous genitalia, Primary amenorrh... |
OMIM:201750 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Aplasia of the vagina, Absent external genitalia, Aplasia of the uterus |
OMIM:271520 |
Steinert Myotonic Dystrophy |
|
Secondary hyperparathyroidism, Testicular atrophy, Decreased serum testosterone concentration, En... |
ORPHA:273 |
Meckel Syndrome 14 |
|
Ambiguous genitalia, Aplasia of the uterus |
OMIM:619879 |
Cardiac-Urogenital Syndrome |
|
Cryptorchidism, Penoscrotal hypospadias, Micropenis, Ambiguous genitalia, Accessory spleen, Bifid... |
OMIM:618280 |
Doors Syndrome |
|
Adrenal hyperplasia, Congenital hypothyroidism, Ambiguous genitalia, Low anterior hairline |
ORPHA:79500 |
Lesch-Nyhan Syndrome |
|
Testicular atrophy |
OMIM:300322 |
Phocomelia, Schinzel Type |
|
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus |
ORPHA:2879 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus |
ORPHA:3320 |
X-Linked Intellectual Disability, Snyder Type |
|
Cryptorchidism, Testicular atrophy, Abnormality of the Leydig cells, Synophrys, Sparse eyebrow, H... |
ORPHA:3063 |
Renal Cysts And Diabetes Syndrome |
|
Pancreatic hypoplasia, Atretic vas deferens, Diabetes mellitus, Hypoplasia of the uterus, Epididy... |
OMIM:137920 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the vagina, Abnormal hair whorl, Aplasia of the uterus |
ORPHA:457284 |
Exstrophy-Epispadias Complex |
|
Cryptorchidism, Bifid penis, Female sexual dysfunction, Penoscrotal transposition, Epispadias, Ab... |
ORPHA:322 |
Fanconi Anemia, Complementation Group L |
|
Bone marrow hypocellularity, Micropenis, Aplasia of the uterus |
OMIM:614083 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Micropenis, Clitoral hypertrophy, Hypoplasia of the uterus, Ovotestis, Chordee, Hypospadias |
OMIM:309801 |
Thrombocytopenia-Absent Radius Syndrome |
|
Hepatosplenomegaly, Pancreatic cysts, Aplasia of the uterus |
OMIM:274000 |
Coffin-Siris Syndrome 1 |
|
Cryptorchidism, Aplasia of the uterus, Facial hypertrichosis, Long eyelashes, Clitoral hypertroph... |
OMIM:135900 |
Wolf-Hirschhorn Syndrome |
|
Cryptorchidism, Aplasia of the uterus, Precocious puberty, Low posterior hairline, Highly arched ... |
OMIM:194190 |
Okamoto Syndrome |
|
Facial hypertrichosis, Extension of hair growth on temples to lateral eyebrow, Bifid uterus, Hype... |
ORPHA:2729 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Cervical insufficiency, Cryptorchidism, Uterine rupture, Cystocele, Alopecia of scalp, Uterine pr... |
OMIM:130050 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Cryptorchidism, Aplasia of the uterus, Hypoplastic nipples, Anteriorly displaced genitalia, Small... |
OMIM:276820 |
Neu-Laxova Syndrome 1 |
|
Bifid uterus, Cryptorchidism, Absent eyelashes |
OMIM:256520 |
Townes-Brocks Syndrome 1 |
|
Rectoperineal fistula, Cryptorchidism, Bifid uterus, Hypothyroidism, Bifid scrotum, Rectovaginal ... |
OMIM:107480 |
Norrie Disease |
|
Delayed puberty, Cryptorchidism, Diabetes mellitus, Uterine rupture, Erectile dysfunction |
ORPHA:649 |
Vascular Ehlers-Danlos Syndrome |
|
Cryptorchidism, Abnormal eyelash morphology, Alopecia, Uterine rupture, Abnormality of hair textu... |
ORPHA:286 |
Loeys-Dietz Syndrome |
|
Uterine rupture |
ORPHA:60030 |
Pallister-Killian Syndrome |
|
Cryptorchidism, Sparse anterior scalp hair, Supernumerary nipple, Sparse eyelashes, Alopecia, Lab... |
OMIM:601803 |
Pancreatic Cancer |
|
Neoplasm of the pancreas |
OMIM:260350 |