Spermatogenic Failure 25 |
|
Azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Partial Chromosome Y Deletion |
|
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi... |
ORPHA:1646 |
Spermatogenic Failure 8 |
|
Oligospermia, Azoospermia, Cryptozoospermia |
OMIM:613957 |
Spermatogenic Failure 1 |
|
Oligospermia, Male infertility, Cryptozoospermia |
OMIM:258150 |
Ovarian Dysgenesis 7 |
|
Delayed puberty, Primary amenorrhea, Hypoplasia of the uterus |
OMIM:618117 |
Ovarian Dysgenesis 2 |
|
Secondary amenorrhea, Delayed puberty, Abnormality of the uterus, Primary amenorrhea, Premature o... |
OMIM:300510 |
Spermatogenic Failure 2 |
|
Oligospermia, Azoospermia |
OMIM:108420 |
Premature Ovarian Failure 3 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus |
OMIM:608996 |
Testicular Torsion |
|
Testicular torsion, Torsion of appendix of testis |
OMIM:187400 |
Spermatogenic Failure 48 |
|
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia |
OMIM:619108 |
Spermatogenic Failure 51 |
|
Oligospermia, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm fla... |
OMIM:619177 |
Spermatogenic Failure 54 |
|
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... |
OMIM:619379 |
Spermatogenic Failure 30 |
|
Azoospermia, Cryptozoospermia |
OMIM:618110 |
Premature Ovarian Failure 14 |
|
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... |
OMIM:618014 |
Spermatogenic Failure, X-Linked, 3 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:301059 |
Spermatogenic Failure 40 |
|
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... |
OMIM:618664 |
Testicular Microlithiasis |
|
Testicular microlithiasis |
OMIM:610441 |
Spermatogenic Failure 39 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618643 |
Spermatogenic Failure 47 |
|
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella |
OMIM:619102 |
Premature Ovarian Failure 17 |
|
Decreased antimullerian hormone level, Elevated circulating follicle stimulating hormone level, D... |
OMIM:619146 |
Spermatogenic Failure 56 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:619515 |
Premature Ovarian Failure 7 |
|
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Clitoral hypertrop... |
OMIM:612964 |
Spermatogenic Failure 11 |
|
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility |
OMIM:615081 |
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 |
Autism, Susceptibility To, 20 |
|
Impaired social interactions |
OMIM:618830 |
Spermatogenic Failure 58 |
|
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... |
OMIM:619585 |
46,Xx Testicular Disorder Of Sex Development |
|
Male hypogonadism, Decreased testicular size, Ambiguous genitalia, Polycystic ovaries |
ORPHA:393 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Female infertility, Irregular menstruation, Premature ovarian insufficiency |
OMIM:619245 |
Ovarian Dysgenesis 9 |
|
Decreased antimullerian hormone level, Elevated circulating follicle stimulating hormone level, H... |
OMIM:619665 |
Premature Ovarian Failure 16 |
|
Reduced antral follicle count, Decreased serum estradiol, Elevated circulating follicle stimulati... |
OMIM:618723 |
Spermatogenic Failure 28 |
|
Elevated circulating luteinizing hormone level, Decreased testicular size, Elevated circulating f... |
OMIM:618086 |
Familial Hyperprolactinemia |
|
Menorrhagia, Infertility, Hemorrhagic ovarian cyst, Oligomenorrhea, Amenorrhea, Female hypogonadism |
ORPHA:397685 |
Premature Ovarian Failure 18 |
|
Secondary amenorrhea, Irregular menstruation, Decreased antimullerian hormone level, Elevated cir... |
OMIM:619203 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:614842 |
Ovarian Dysgenesis 5 |
|
Primary amenorrhea, Hypoplasia of the uterus |
OMIM:617690 |
Leydig Cell Hypoplasia, Type I |
|
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level |
OMIM:238320 |
Spermatogenic Failure 7 |
|
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility |
OMIM:612997 |
Perrault Syndrome 6 |
|
Secondary amenorrhea, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Irregula... |
OMIM:617565 |
Spermatogenic Failure, X-Linked, 2 |
|
Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
Premature Ovarian Failure 6 |
|
Secondary amenorrhea, Streak ovary, Elevated circulating follicle stimulating hormone level, Fema... |
OMIM:612310 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypospadias, Elevated circulating follicle stimulating hormone level, Sparse pubic hair, Ambiguou... |
ORPHA:90796 |
Endometriosis, Susceptibility To, 1 |
|
Endometriosis, Dysmenorrhea, Decreased fertility |
OMIM:131200 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I |
ORPHA:488191 |
Hydatidiform Mole |
|
Hyperthyroidism, Spontaneous abortion, Menometrorrhagia, Enlarged uterus |
ORPHA:99927 |
Precocious Puberty, Central, 1 |
|
Hypothyroidism, Isosexual precocious puberty, Elevated circulating luteinizing hormone level, Ele... |
OMIM:176400 |
Hypogonadism, Male |
|
Testicular atrophy, Micropenis, Male hypogonadism, Hypospadias |
OMIM:241100 |
Complete Androgen Insensitivity Syndrome |
|
Increased antimullerian hormone level, Increased serum testosterone level, Aplasia of the uterus,... |
ORPHA:99429 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Azoospermia, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Micropenis, Primary amenorrh... |
OMIM:614837 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Pedal edema, Increased bone mineral density, Premature ovarian insufficiency |
ORPHA:75325 |
Oocyte Maturation Defect 2 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:616780 |
Oocyte Maturation Defect 9 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:619011 |
46,Xy Sex Reversal 11 |
|
Gonadal dysgenesis with female appearance, male, Vanishing testis, Aplasia of the uterus, Decreas... |
OMIM:273250 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Hypoplasia of the ovar... |
OMIM:614841 |
Ribbing Disease |
|
Diaphyseal sclerosis |
OMIM:601477 |
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 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypospadias, Adrenal insufficiency, Elevated circulating follicle stimulating hormone level, Spar... |
ORPHA:251510 |
Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus |
OMIM:618078 |
Premature Ovarian Failure 10 |
|
Elevated circulating follicle stimulating hormone level, Azoospermia, Hypoplasia of the ovary, Pr... |
OMIM:612885 |
Melorheostosis With Osteopoikilosis |
|
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... |
ORPHA:1879 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Rhizomelia, Short humerus, Short femur, Epiphyseal stippling |
OMIM:600121 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Testicular dysgenesis, Gonadal dysgenesis with female appearance, male, Abnormal vagina morpholog... |
ORPHA:168563 |
Diethylstilbestrol Syndrome |
|
Hypospadias, Testicular dysgenesis, Decreased fertility in females, Abnormal reproductive system ... |
ORPHA:1916 |
Perrault Syndrome 4 |
|
Disproportionate tall stature, Secondary amenorrhea, Oligomenorrhea, Hypoplasia of the ovary, Dec... |
OMIM:615300 |
Oocyte Maturation Defect 8 |
|
Female infertility |
OMIM:619009 |
Osteochondrosis Of The Metatarsal Bone |
|
Structural foot deformity, Sclerosis of foot bone, Abnormality of the third metatarsal bone, Flat... |
ORPHA:564003 |
Androgen Insensitivity Syndrome |
|
Elevated circulating follicle stimulating hormone level, Labial hypoplasia, Sparse pubic hair, Ab... |
OMIM:300068 |
Müllerian Aplasia And Hyperandrogenism |
|
Abnormality of the ovary, Increased serum testosterone level, Abnormal vagina morphology, Hirsuti... |
ORPHA:247768 |
Hepatic Adenomas, Familial |
|
Polycystic ovaries |
OMIM:142330 |
Asperger Syndrome, X-Linked, Susceptibility To, 2 |
|
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors |
OMIM:300497 |
Asperger Syndrome, X-Linked, Susceptibility To, 1 |
|
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors |
OMIM:300494 |
Asperger Syndrome, Susceptibility To, 1 |
|
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors |
OMIM:608631 |
Buschke-Ollendorff Syndrome |
|
Joint stiffness, Osteopoikilosis, Flexion contracture |
OMIM:166700 |
Premature Ovarian Failure 1 |
|
Irregular menstruation, Premature ovarian insufficiency, Increased circulating gonadotropin level |
OMIM:311360 |
46,Xy Complete Gonadal Dysgenesis |
|
Testicular dysgenesis, Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism |
ORPHA:242 |
Avascular Necrosis Of Femoral Head, Primary, 1 |
|
Avascular necrosis of the capital femoral epiphysis, Generalized osteoporosis |
OMIM:608805 |
Estrogen Resistance |
|
Primary amenorrhea, Hyperinsulinemia, Hypoplasia of the uterus |
OMIM:615363 |
Uterine Anomalies |
|
Abnormality of the uterus, Bicornuate uterus |
OMIM:192000 |
Gonadoblastoma |
|
Ovarian gonadoblastoma, Abnormality of the ovary, Increased serum testosterone level, Gonadal dys... |
ORPHA:206484 |
Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Azoospermia |
OMIM:613909 |
Perrault Syndrome 3 |
|
Hypoplasia of the uterus, Primary amenorrhea, Hypergonadotropic hypogonadism |
OMIM:614129 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Pituitary Adenoma 2, Growth Hormone-Secreting |
|
Pituitary adenoma, Elevated circulating growth hormone concentration |
OMIM:300943 |
Spermatogenic Failure 38 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618433 |
Plin1-Related Familial Partial Lipodystrophy |
|
Infertility, Loss of subcutaneous adipose tissue in limbs, Oligomenorrhea, Insulin-resistant diab... |
ORPHA:280356 |
Functioning Gonadotropic Adenoma |
|
Abnormal prolactin level, Oligospermia, Increased serum testosterone level, Abnormality of the me... |
ORPHA:91348 |
46,Xx Sex Reversal 2 |
|
True hermaphroditism, Sex reversal, Bifid scrotum, Azoospermia, Hypoplasia of the vagina, Micrope... |
OMIM:278850 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia |
OMIM:233650 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Spermatogenic Failure 62 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
46,Xy Sex Reversal 3 |
|
Sex reversal, Elevated circulating follicle stimulating hormone level, Penoscrotal hypospadias, E... |
OMIM:612965 |
Ghosal Hematodiaphyseal Dysplasia |
|
Abnormality of femur morphology, Diaphyseal thickening, Bowing of the long bones, Abnormal cortic... |
ORPHA:1802 |
Partial Androgen Insensitivity Syndrome |
|
Increased antimullerian hormone level, Hypospadias, Increased serum testosterone level, Aplasia o... |
ORPHA:90797 |
Premature Ovarian Failure 9 |
|
Amenorrhea, Premature ovarian insufficiency, Increased circulating gonadotropin level |
OMIM:615724 |
Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619646 |
Polycystic Ovary Syndrome 1 |
|
Oligomenorrhea, Hirsutism, Amenorrhea, Obesity, Enlarged polycystic ovaries |
OMIM:184700 |
Xp22.3 Microdeletion Syndrome |
|
Secondary amenorrhea, Hypogonadotropic hypogonadism, Polycystic ovaries, Decreased fertility |
ORPHA:1643 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Cranial hyperostosis, Diaphyseal thickening, Abnormal cortical bone m... |
ORPHA:3416 |
Spermatogenic Failure 12 |
|
Infertility, Abnormal male germ cell morphology, Azoospermia |
OMIM:615413 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Amenorrhea, Aplasia of the vagina, Hypoplasia of the uterus |
OMIM:277000 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Increased circulating progesterone, Hypospadias, Aplasia of the uterus, Bifid scrotum, Elevated c... |
ORPHA:90793 |
Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Male infertility, Azoospermia |
ORPHA:276183 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Absent ossification of cervical vertebral bodies, Sclerotic scapulae, Absent ossification of thor... |
OMIM:601376 |
Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
Estrogen Resistance Syndrome |
|
Overgrowth, Tall stature, Absence of pubertal development, Absence of secondary sex characteristi... |
ORPHA:785 |
Multiple Symmetric Lipomatosis |
|
Abnormal adipose tissue morphology, Multiple lipomas, Insulin resistance |
ORPHA:2398 |
Premature Ovarian Failure 2A |
|
Secondary amenorrhea, Premature ovarian insufficiency |
OMIM:300511 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Prader-Willi syndrome (Type 1) |
|
Hypogonadism, Truncal obesity |
DECIPHER:14 |
Prader-Willi Syndrome (Type 2) |
|
Hypogonadism, Truncal obesity |
DECIPHER:53 |
Ovarian Fibrothecoma |
|
Abnormality of the endometrium, Abnormality of the ovary, Increased serum testosterone level, Hir... |
ORPHA:314478 |
46,Xy Sex Reversal 1 |
|
Sex reversal, Elevated circulating follicle stimulating hormone level, Gonadoblastoma, Tall statu... |
OMIM:400044 |
Hypogonadism-Cataract Syndrome |
|
Hypogonadism, Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone l... |
OMIM:240950 |
X-Linked Intellectual Disability, Van Esch Type |
|
Type II diabetes mellitus, Failure to thrive, Absence of secondary sex characteristics, Increased... |
ORPHA:163976 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Azoospermia |
OMIM:277180 |
Spermatogenic Failure 29 |
|
Azoospermia |
OMIM:618091 |
Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
Spermatogenic Failure 14 |
|
Azoospermia |
OMIM:615842 |
Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia |
OMIM:415000 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating aldosterone level, Increased serum testosterone level, Increased circulatin... |
OMIM:202010 |
Spermatogenic Failure 35 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:618341 |
Spermatogenic Failure 33 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:618152 |
Spermatogenic Failure 34 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:618153 |
Spermatogenic Failure 18 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:617576 |
Spermatogenic Failure 20 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:617593 |
Spermatogenic Failure 19 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:617592 |
Oocyte Maturation Defect 11 |
|
Female infertility |
OMIM:619643 |
Oocyte Maturation Defect 6 |
|
Female infertility |
OMIM:618353 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Preimplantation Embryonic Lethality 1 |
|
Female infertility |
OMIM:616814 |
Oocyte Maturation Defect 7 |
|
Female infertility |
OMIM:618550 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
46,Xx Ovotesticular Disorder Of Sex Development |
|
Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali... |
ORPHA:2138 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Azoospermia, Obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermato... |
ORPHA:399805 |
Kennedy Disease |
|
Testicular atrophy, Type II diabetes mellitus, Erectile dysfunction, Decreased fertility |
ORPHA:481 |
Non-Functioning Pituitary Adenoma |
|
Adrenal insufficiency, Increased serum testosterone level, Abnormality of the menstrual cycle, De... |
ORPHA:91349 |
49,Xyyyy Syndrome |
|
Micrognathia, Radioulnar synostosis, Lower limb asymmetry, Azoospermia, Large hands, Finger clino... |
ORPHA:99330 |
Ring Chromosome Y Syndrome |
|
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Abnormality of the male geni... |
ORPHA:261529 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure 23 |
|
Infertility, Azoospermia |
OMIM:617707 |
Spermatogenic Failure 22 |
|
Infertility, Azoospermia |
OMIM:617706 |
Spermatogenic Failure 32 |
|
Infertility, Azoospermia |
OMIM:618115 |
Craniodiaphyseal Dysplasia |
|
Facial hyperostosis, Cranial hyperostosis, Diaphyseal sclerosis, Diaphyseal dysplasia |
OMIM:218300 |
46,Xy Sex Reversal 7 |
|
Gonadal dysgenesis, male, Sex reversal, Streak ovary, Gonadoblastoma, Hypoplasia of the fallopian... |
OMIM:233420 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hypospadias, Increased serum testosterone level, Hirsutism, Premature adrenarche, Ambiguous genit... |
ORPHA:90791 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... |
ORPHA:52901 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Small for gestational age, Small hand, Increased circulating gonadotropin level, Hypogonadism, Sh... |
OMIM:300869 |
X-Linked Intellectual Disability, Cilliers Type |
|
Hypospadias, Failure to thrive, Small hand, Absence of secondary sex characteristics, Increased c... |
ORPHA:163971 |
Ovarian Dysgenesis 8 |
|
Hypoplastic labia majora, Elevated circulating follicle stimulating hormone level, Osteoporosis, ... |
OMIM:618187 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Polycystic ovaries, Precocious puberty, Hypergonadotropic hypogonadism |
ORPHA:2229 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Secondary amenorrhea, Micropenis, Camptodactyly, Breast hypoplasia, Hypogonadotropic hypogonadism... |
ORPHA:432 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Testicular microlithiasis, Secondary amenorrhea, Abnormality of the Leydig cells, Oligomenorrhea,... |
OMIM:228300 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Increased bone mineral density, Ectopic ossification |
OMIM:602475 |
49,Xxxyy Syndrome |
|
Abnormal plantar dermatoglyphics, Micrognathia, Finger clinodactyly, External genital hypoplasia,... |
ORPHA:261534 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Hirsutism, Progressive loss of facial adipose tissue, Polycystic ovaries, Loss of truncal subcuta... |
OMIM:608709 |
Premature Ovarian Failure 8 |
|
Ovarian neoplasm, Primary amenorrhea, Premature ovarian insufficiency, Increased circulating gona... |
OMIM:615723 |
Immunodeficiency 24 |
|
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Decreased circula... |
OMIM:615897 |
Isochromosomy Yp |
|
Ambiguous genitalia, Male infertility, Decreased testicular size, Azoospermia |
ORPHA:98797 |
Osteopetrosis, Autosomal Recessive 6 |
|
Dense metaphyseal bands, Osteopetrosis, Cortical sclerosis of the iliac wing, Erlenmeyer flask de... |
OMIM:611497 |
Bardet-Biedl Syndrome 11 |
|
Hypogonadism, Obesity |
OMIM:615988 |
Gnathodiaphyseal Dysplasia |
|
Thickened cortex of long bones, Bowing of the long bones, Osteopenia, Mandibular osteomyelitis, R... |
ORPHA:53697 |
Spermatogenic Failure 46 |
|
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... |
OMIM:619095 |
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Hypogonadism, Osteoporosis, Osteopenia |
OMIM:615270 |
Sclerosteosis |
|
Diaphyseal thickening, Abnormal cortical bone morphology, Finger syndactyly, Curved distal phalan... |
ORPHA:3152 |
Aromatase Deficiency |
|
Female pseudohermaphroditism, Primary amenorrhea, Ovarian cyst, Hypergonadotropic hypogonadism |
OMIM:613546 |
Rudiger Syndrome |
|
Bicornuate uterus, Micropenis, Ovarian cyst |
OMIM:268650 |
Obesity Due To Congenital Leptin Deficiency |
|
Orthostatic hypotension due to autonomic dysfunction, Insulin-resistant diabetes mellitus, Pituit... |
ORPHA:66628 |
Mueller-Weiss Syndrome |
|
Sclerosis of foot bone, Abnormality of the os naviculare pedis, Positional foot deformity, Limita... |
ORPHA:566943 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Elevated circulating parathyroid hormone level, Genu varum, Generalized bone demineralization, Th... |
OMIM:600785 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Orthostatic hypotension due to autonomic dysfunction, Insulin-resistant diabetes mellitus, Pituit... |
ORPHA:179494 |
Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Tibial bowing, Increased bone mineral density, Femora... |
OMIM:166740 |
47,Xyy Syndrome |
|
Hypospadias, Macroorchidism, Increased serum testosterone level, Oligospermia, Azoospermia, Tall ... |
ORPHA:8 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Secondary amenorrhea, Type II diabetes mellitus, Polycystic ovaries, Short toe, Kyphosis, Broad f... |
ORPHA:3085 |
Endosteal Hyperostosis, Worth Type |
|
Diaphyseal thickening, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicular ... |
ORPHA:2790 |
Eiken Syndrome |
|
Limited elbow flexion, Abnormal acetabulum morphology, Thin bony cortex, Narrow pelvis bone, Meta... |
ORPHA:79106 |
Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619094 |
Autosomal Recessive Spastic Paraplegia Type 26 |
|
Skeletal muscle atrophy, Abnormality of the urinary system, Hyperintensity of cerebral white matt... |
ORPHA:101006 |
Nephrotic Syndrome, Type 14 |
|
Adrenal insufficiency, Focal segmental glomerulosclerosis, Hypoglycemia, Nephrotic syndrome, Stag... |
OMIM:617575 |
Satoyoshi Syndrome |
|
Abnormality of the ovary, Genu varum, Abnormal hair morphology, Abnormality of the knee, Amenorrh... |
ORPHA:3130 |
Mccune-Albright Syndrome |
|
Increased serum testosterone level, Renal tubular dysfunction, Goiter, Increased circulating cort... |
ORPHA:562 |
Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
Testicular Regression Syndrome |
|
Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i... |
ORPHA:983 |
Agammaglobulinemia 8, Autosomal Dominant |
|
B lymphocytopenia, Agammaglobulinemia |
OMIM:616941 |
Bdv Syndrome |
|
Central hypothyroidism, Micrognathia, Type II diabetes mellitus, Decreased circulating free T4 le... |
OMIM:619326 |
Premature Ovarian Failure 2B |
|
Primary amenorrhea, Premature ovarian insufficiency, Delayed puberty |
OMIM:300604 |
Preimplantation Embryonic Lethality 2 |
|
Infertility |
OMIM:617234 |
Van Buchem Disease |
|
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density |
OMIM:239100 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Bardet-Biedl Syndrome 12 |
|
Hypogonadism, Obesity |
OMIM:615989 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Abnormality of the ovary, Menorrhagia, Oligomenorrhea, Amenorrhea, Polycystic ovaries, Abnormalit... |
ORPHA:2795 |
Syndromic X-Linked Intellectual Disability 7 |
|
Hypogonadism, Micropenis, Obesity, Cryptorchidism, Hypoplasia of penis, Sparse body hair |
ORPHA:85274 |
Spermatogenic Failure 42 |
|
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... |
OMIM:618745 |
Spermatogenic Failure 24 |
|
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Short sperm flagella, Microcep... |
OMIM:617959 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Infertility |
OMIM:614822 |
Mullerian Aplasia And Hyperandrogenism |
|
Amenorrhea, Aplasia of the uterus, Aplasia of the vagina, Aplasia/Hypoplasia of the fallopian tube |
OMIM:158330 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Increased circulating progesterone, Increased serum testosterone level, Aplasia of the uterus, Hy... |
ORPHA:90794 |
Pituicytoma |
|
Increased circulating prolactin concentration, Amenorrhea, Hypogonadotropic hypogonadism, Pituita... |
ORPHA:251623 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Infertility, Azoospermia, Hypogonadism, Primary amenorrhea, Decreased testicular size |
OMIM:229070 |
Immunodeficiency 40 |
|
Lymphopenia |
OMIM:616433 |
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Osteoporosis, Osteopenia |
OMIM:615269 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Increased serum testosterone level, Hirsutism, Premature adrenarche, Ambiguous genitalia, female,... |
ORPHA:90795 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
B lymphocytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circl... |
OMIM:618987 |
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
|
Osteoporosis, Osteopenia |
OMIM:615271 |
Leydig Cell Hypoplasia |
|
Hypospadias, Secondary amenorrhea, Aplasia of the uterus, Abnormal external genitalia, Micropenis... |
ORPHA:755 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Triphalangeal thumb, Sparse pubic hair, Agonadism, Contracture of the proximal interphalangeal jo... |
ORPHA:2232 |
Acrocapitofemoral Dysplasia |
|
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... |
OMIM:607778 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Hypogonadism, Abnormality of the ovary, Decreased testicular size |
ORPHA:1875 |
Premature Ovarian Failure 11 |
|
Secondary amenorrhea, Oligomenorrhea, Elevated circulating follicle stimulating hormone level |
OMIM:616946 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Maturity-onset diabetes of the young, Obesity, Diabetes mellitus, Overweight |
OMIM:613375 |
Isochromosomy Yq |
|
Azoospermia, Varicocele, Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia... |
ORPHA:98798 |
Mucocutaneous Ulceration, Chronic |
|
Vaginal mucosal ulceration |
OMIM:618287 |
Insulin-Resistance Syndrome Type B |
|
Autoimmunity, Increased serum testosterone level, Fasting hypoglycemia, Abnormality of body weigh... |
ORPHA:2298 |
Immunodeficiency 84 |
|
B lymphocytopenia, Perianal abscess, Splenomegaly |
OMIM:619437 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Polycystic ovaries, Pancreatitis, Lipoatrophy, Diabetes mellitus, Hyperinsulinemia |
ORPHA:79084 |
Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Hypogonadism |
OMIM:618165 |
Cortisone Reductase Deficiency 1 |
|
Infertility, Oligomenorrhea, Hirsutism, Obesity, Precocious puberty |
OMIM:604931 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Hypoplasia of the femoral head, Rhizomelia, Hip dysplasia, Limitation of joint mobility, Wide dis... |
OMIM:619598 |
Ovarian Dysgenesis 1 |
|
Gonadal dysgenesis, Primary amenorrhea, Increased circulating gonadotropin level |
OMIM:233300 |
Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Hydrocolpos, Dysmenorrhea, Metrorrhagia, Uterus didelphys, Dyspareunia, Partial vaginal septum, A... |
ORPHA:3411 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
46,Xx Sex Reversal 5 |
|
Aplasia of the left hemidiaphragm, Increased serum testosterone level, Ambiguous genitalia, Uroge... |
OMIM:618901 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Testicular Agenesis |
|
Vanishing testis, Decreased serum testosterone concentration, Urethrovaginal fistula, Abnormal va... |
ORPHA:325124 |
Spermatogenic Failure 3 |
|
Infertility |
OMIM:606766 |
Oocyte Maturation Defect 3 |
|
Infertility |
OMIM:617712 |
Oocyte Maturation Defect 4 |
|
Infertility |
OMIM:617743 |
Spermatogenic Failure 17 |
|
Infertility |
OMIM:617214 |
Oocyte Maturation Defect 1 |
|
Infertility |
OMIM:615774 |
Spermatogenic Failure 27 |
|
Infertility |
OMIM:617965 |
Oocyte Maturation Defect 5 |
|
Infertility |
OMIM:617996 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Bicornuate uterus, Hypoplasia of the uterus, Azoospermia |
OMIM:601076 |
Androgen Insensitivity Syndrome |
|
Aplasia/Hypoplasia of the fallopian tube, Aplasia/hypoplasia of the uterus, Abnormal morphology o... |
ORPHA:754 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Truncal obesity, Neonatal hypoglycemia, Large for gestational age, Abno... |
ORPHA:293964 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Exostoses of the ulna, Exostoses of the radius, Increased bone mineral density, Deformed humerus,... |
ORPHA:85188 |
Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Hirsutism, Loss of subcutaneous adipose tissue in limbs, Oligomenorrhea, Insul... |
OMIM:604367 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm morphology, Abnormal sperm tail morphology, Increased circulating gonadotropin lev... |
ORPHA:399808 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Hypospadias, Insulin-resistant diabetes mellitus, Micropenis, Premature ovarian insufficiency, Ab... |
ORPHA:2959 |
Popliteal Pterygium Syndrome |
|
Hypoplastic labia majora, Bifid scrotum, Hypoplasia of the vagina, Cryptorchidism, Hypoplasia of ... |
OMIM:119500 |
Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility |
ORPHA:48 |
Fibular Hemimelia |
|
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... |
ORPHA:93323 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Aplasia of the uterus, Hypoplasia of the vagina |
ORPHA:3109 |
Prader-Willi Habitus, Osteopenia, And Camptodactyly |
|
Enlarged epiphyses, Osteoporosis, Joint contracture of the hand, Osteopenia, Camptodactyly |
OMIM:264010 |
Post-Traumatic Pituitary Deficiency |
|
Abnormal prolactin level, Abnormality of secondary sexual hair, Infertility, Hypoglycemia, Amenor... |
ORPHA:95619 |
Osteomalacia, Sclerosing, With Cerebral Calcification |
|
Generalized osteosclerosis, Osteomalacia, Increased bone mineral density |
OMIM:259660 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Infertility, Hypogonadotropic hypogonadism, Micropenis, Primary amenorrhea, Cryptorchidism, Decre... |
OMIM:146110 |
46,Xy Sex Reversal 5 |
|
Elevated circulating follicle stimulating hormone level |
OMIM:613080 |
Xq27.3Q28 Duplication Syndrome |
|
Failure to thrive, Truncal obesity, Hypogonadism, Premature ovarian insufficiency, Cryptorchidism... |
ORPHA:261483 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicul... |
OMIM:614840 |
Caffey Disease |
|
Tibial bowing, Bowing of the legs, Periosteal thickening of long tubular bones, Cortical irregula... |
OMIM:114000 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Decreased circulating IgG level, T lymphocytopenia |
OMIM:242870 |
Lipodystrophy, Familial Partial, Type 6 |
|
Lipodystrophy, Abdominal obesity, Diabetes mellitus, Insulin resistance |
OMIM:615980 |
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism |
|
Decreased response to growth hormone stimulation test, Panhypopituitarism, Hypothyroidism |
OMIM:300123 |
Isolated Osteopoikilosis |
|
Sclerotic foci in hand bones, Sclerosis of foot bone, Abnormality of femur morphology, Abnormal b... |
ORPHA:166119 |
Polyembryoma |
|
Macroorchidism, Increased serum testosterone level, Increased serum serotonin, Abnormal sacrum mo... |
ORPHA:180229 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Osteoporosis, Secondary growth hormone deficiency, Absence of secondary sex characteristics, Incr... |
ORPHA:2410 |
Acromesomelic Dysplasia 2A |
|
Aplasia/Hypoplasia of the patella, Valgus hand deformity, Pes valgus, Aplasia/Hypoplasia of metat... |
OMIM:200700 |
Neurologic Disease, Infantile Multisystem, With Osseous Fragility |
|
Hip subluxation, Hip dislocation, Recurrent fractures, Osteoporosis |
OMIM:256720 |
Bardet-Biedl Syndrome 6 |
|
Hypospadias, External genital hypoplasia, Renal cyst, Diabetes mellitus, Obesity |
OMIM:605231 |
Hydatidiform Mole, Recurrent, 3 |
|
Infertility |
OMIM:618431 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Increased serum testosterone level, Eczema, Spontaneous abortion, Clitoral hypertrophy, Congenita... |
ORPHA:96181 |
Seckel Syndrome 7 |
|
Central hypothyroidism, Primary amenorrhea, Hypoplasia of the uterus |
OMIM:614851 |
Growth Hormone Insensitivity Syndrome |
|
Fine hair, Hypoglycemia, Diabetes insipidus, Type II diabetes mellitus, Insulin resistance, Failu... |
ORPHA:181393 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
Hypersecretion Of Adrenal Androgens, Familial |
|
Adrenal overactivity, Hirsutism, Amenorrhea, Increased circulating androgen concentration, Premat... |
OMIM:145295 |
Congenital Factor Vii Deficiency |
|
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Post-partum hemorrhage, Prolonged prothr... |
ORPHA:327 |
Spermatogenic Failure 26 |
|
Infertility, Acephalic spermatozoa |
OMIM:617961 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Obesity, Increased bone mineral density, Tall stature |
OMIM:618406 |
Familial Cylindromatosis |
|
Telangiectasia of the skin |
ORPHA:211 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Abnormality of the knee, Foot acroosteolysis, Tapered finger, Abnormality of epiphysis morphology... |
ORPHA:970 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Splenomegaly, Diabetes mellitus, Stiff interphalangeal joints, Portal hypertension, Infertility, ... |
ORPHA:465508 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Abnormal social behavior |
ORPHA:436151 |
Porokeratosis 2, Palmar, Plantar, And Disseminated Type |
|
Plantar telangiectasia, Palmar telangiectasia |
OMIM:175850 |
Bardet-Biedl Syndrome 10 |
|
Hypogonadism, Obesity, Renal cyst |
OMIM:615987 |
Aarskog-Scott Syndrome |
|
Elevated circulating follicle stimulating hormone level, Pes planus, Syndactyly, Elevated circula... |
OMIM:305400 |
Hyperostosis Frontalis Interna |
|
Hypertrichosis, Diabetes mellitus, Obesity, Irregular menstruation, Increased circulating prolact... |
OMIM:144800 |
Hip Dysplasia, Beukes Type |
|
Abnormality of bone mineral density, Abnormality of epiphysis morphology, Abnormality of the epip... |
ORPHA:2114 |
Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Truncal obesity, Large for gestational age, Neonatal hypoglycemia |
OMIM:240900 |
Femoral-Facial Syndrome |
|
Micrognathia, Maternal diabetes, Long penis, Talipes equinovarus, Abnormal sacrum morphology, Abn... |
ORPHA:1988 |
Bardet-Biedl Syndrome 5 |
|
Hypogonadism, Obesity, Micropenis, External genital hypoplasia |
OMIM:615983 |
Akt2-Related Familial Partial Lipodystrophy |
|
Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, Lipodystrophy, Decreased... |
ORPHA:79085 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
46,Xx Sex Reversal 1 |
|
Hypospadias, True hermaphroditism, Sex reversal, Elevated circulating follicle stimulating hormon... |
OMIM:400045 |
Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Oligomenorrhea, Insulin-resistant diabetes mellitus... |
ORPHA:435660 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Infertility |
OMIM:608653 |
Rabson-Mendenhall Syndrome |
|
Increased serum testosterone level, Fasting hypoglycemia, Hirsutism, Insulin-resistant diabetes m... |
ORPHA:769 |
Dysplastic Cortical Hyperostosis |
|
Limb undergrowth, Increased bone mineral density, Abnormality of limb bone morphology, Abnormal c... |
ORPHA:2204 |
Intellectual Developmental Disorder, Autosomal Recessive 66 |
|
Aggressive behavior, Shyness |
OMIM:618221 |
Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Thickened cortex of long bones, Osteopetrosis, Calvarial osteoscleros... |
OMIM:607634 |
Galactosemia I |
|
Aminoaciduria, Increased level of galactitol in urine, Failure to thrive, Albuminuria, Premature ... |
OMIM:230400 |
Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Oligomenorrhea, Insulin-resistant diabetes mellitus... |
ORPHA:435651 |
Satoyoshi Syndrome |
|
Alopecia universalis, Alopecia, Amenorrhea, Hypoplasia of the uterus |
OMIM:600705 |
Spermatogenic Failure 21 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Obesity, Cryptorchidism, Thick eyebrow |
OMIM:309585 |
Morbid Obesity And Spermatogenic Failure |
|
Oligospermia, Hypertension, Infertility, Type II diabetes mellitus, Azoospermia, Insulin resistan... |
OMIM:615703 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Hypospadias, Hallux valgus, Bifid scrotum, Short metatarsal, Ambiguous genitalia, female, Urogeni... |
ORPHA:1772 |
Spermatogenic Failure 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Highly arched eyebrow, Amenorrhea, Sparse pubic hair, Increased circulating gonadotropin level, F... |
OMIM:110100 |
Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
Isolated Growth Hormone Deficiency, Type Ib |
|
Decreased response to growth hormone stimulation test |
OMIM:612781 |
Osteosclerotic Metaphyseal Dysplasia |
|
Clavicular sclerosis, Metaphyseal dysplasia |
OMIM:615198 |
Congenital Generalized Lipodystrophy |
|
Precocious puberty in females, Hypertrichosis, Oligomenorrhea, Low anterior hairline, Amenorrhea,... |
ORPHA:528 |
Extensor Tendons Of Finger Anomalies |
|
Osteoporosis, Limitation of joint mobility, Camptodactyly of finger |
ORPHA:3294 |
Distal Osteosclerosis |
|
Craniofacial osteosclerosis, Hyperostosis, Diaphyseal sclerosis |
OMIM:126250 |
Autism, Susceptibility To, X-Linked 3 |
|
Lack of peer relationships, Impaired use of nonverbal behaviors |
OMIM:300496 |
Autism, Susceptibility To, X-Linked 1 |
|
Lack of peer relationships, Impaired use of nonverbal behaviors |
OMIM:300425 |
Autism |
|
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors |
OMIM:209850 |
Autism, Susceptibility To, 8 |
|
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors |
OMIM:607373 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors |
OMIM:608636 |
Acromesomelic Dysplasia 3 |
|
Fibular aplasia, Tarsal synostosis, Talipes equinovarus, Short finger, Short toe, Short phalanx o... |
OMIM:609441 |
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Micropenis, Childhood-onset truncal obesity, Truncal obesity |
OMIM:610156 |
Cernunnos-Xlf Deficiency |
|
B lymphocytopenia, Decreased circulating antibody level, Anemia, Lymphopenia, Thrombocytopenia, T... |
ORPHA:169079 |
46,Xx Gonadal Dysgenesis |
|
Abnormality of secondary sexual hair, Secondary amenorrhea, Streak ovary, Aplasia/hypoplasia of t... |
ORPHA:243 |
Kennerknecht Syndrome |
|
Omphalocele, Long eyelashes, Agonadism, Abdominal obesity, Hypoplasia of the uterus |
OMIM:600908 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Proximal muscle weakness in lower limbs, Type II diabetes mellitus, Hypog... |
ORPHA:453533 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Elevated cir... |
ORPHA:171706 |
Capillary Malformation-Arteriovenous Malformation 2 |
|
Telangiectasia |
OMIM:618196 |
Premature Ovarian Failure 5 |
|
Secondary amenorrhea, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Premature ovaria... |
OMIM:611548 |
Preeclampsia |
|
Hypertension, Elevated diastolic blood pressure, Small for gestational age, Polycystic ovaries, I... |
ORPHA:275555 |
Ovarian Hyperstimulation Syndrome |
|
Increased serum testosterone level, Hemorrhagic ovarian cyst, Hirsutism, Increased circulating go... |
ORPHA:64739 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Micropenis, Primary amenorrhea, Diabetes mellitus, Obesity, Crypto... |
OMIM:610628 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Alopecia of scalp, Failure to thrive, Splenomegaly, Hypogonadism, Decreased testicular size, Decr... |
OMIM:201100 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Upper limb undergrowth, Abnormal cortical bone morphology, Pathologic fracture, Short foot, Toe c... |
ORPHA:166277 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Osteopoikilosis, Increased bone mineral density |
ORPHA:1562 |
Weismann-Netter Syndrome |
|
Abnormality of tibia morphology, Abnormality of the ulna, Tibial bowing, Fibular bowing, Abnormal... |
ORPHA:3344 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Polycystic ovaries |
ORPHA:2228 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Abnormality of the Leydig cells, Aplasia of the uterus, Elevated circulating follicle stimulating... |
ORPHA:168558 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Abnormality of the Leydig cells, Aplasia of the uterus, Elevated circulating follicle stimulating... |
ORPHA:289548 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Irregular epiphyses, Delayed tarsal ossification, Arthralgia of the hip, Small epiphyses, Prematu... |
OMIM:607078 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Thickened cortex of long bones, Hyperostosis, Metatarsal diaphyseal endosteal sclerosis, Clavicul... |
OMIM:144750 |
Immunodeficiency 12 |
|
Osteoporosis |
OMIM:615468 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypoplasia of the ovary, Decreased serum estradiol, Micropenis, Hypothalamic gonadotropin-releasi... |
OMIM:618841 |
Winchester Syndrome |
|
Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the feet, Generalize... |
OMIM:277950 |
Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Atretic vas deferens, Pancreatic hypoplasia, Ureteropelvic junction obstruction, Dia... |
OMIM:137920 |
Melorheostosis |
|
Ectopic ossification in muscle tissue, Lower limb asymmetry, Hyperostosis, Arthritis, Increased b... |
ORPHA:2485 |
Igg4-Related Retroperitoneal Fibrosis |
|
Anti-thyroid peroxidase antibody positivity, Rheumatoid factor positive, Ureteropelvic junction o... |
ORPHA:49041 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy, Splenomegaly, Hypersplenism, Decreased helper T cell proportion, Pancytopenia |
OMIM:183350 |
Fraser-Like Syndrome |
|
Ovarian cyst |
OMIM:229230 |
Amed Syndrome, Digenic |
|
Failure to thrive, Adrenal hypoplasia, Microcephaly, Hypoplasia of the uterus |
OMIM:619151 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Bicornuate uterus, Aplasia/hypoplasia of the uterus, Azoospermia |
ORPHA:2578 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Abnormal circulating hormone concentration, Abnormality of male internal genitalia, Male infertil... |
OMIM:261550 |
Ataxia-Telangiectasia |
|
Type II diabetes mellitus, Skeletal muscle atrophy, Failure to thrive, Polycystic ovaries, Telang... |
ORPHA:100 |
Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Irregular epiphyses, Micrognathia, Metatarsus adductus, Flat capital femoral epiphysis, Talipes e... |
OMIM:601560 |
Moyamoya Disease 1 |
|
Telangiectasia, Inflammatory arteriopathy |
OMIM:252350 |
Woodhouse-Sakati Syndrome |
|
Abnormal T-wave, Streak ovary, Insulin-resistant diabetes mellitus, Alopecia, Hypoplasia of the f... |
ORPHA:3464 |
Myotonic Dystrophy 2 |
|
Oligospermia, Elevated circulating follicle stimulating hormone level, Palpitations, Tachycardia,... |
OMIM:602668 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Premature ovarian insufficiency |
ORPHA:2278 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Agammaglobulinemia, Lymphopenia |
OMIM:200900 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Truncal obesity, Postnatal growth retardation, Abdominal obesity, Decreased response to growth ho... |
OMIM:618160 |
Familial Male-Limited Precocious Puberty |
|
Oligospermia, Macroorchidism, Long penis, Male infertility, Precocious puberty |
ORPHA:3000 |
Cranio-Osteoarthropathy |
|
Abnormality of the knee, Osteoarthritis, Abnormal cortical bone morphology, Arthritis, Deviation ... |
ORPHA:1525 |
Deafness-Infertility Syndrome |
|
Abnormal spermatogenesis, Male infertility, Reduced sperm motility |
OMIM:611102 |
Hydatidiform Mole, Recurrent, 4 |
|
Recurrent spontaneous abortion, Female infertility |
OMIM:618432 |
Immunodeficiency 76 |
|
B lymphocytopenia, Lymphadenopathy, Splenomegaly, Lymphopenia, T lymphocytopenia |
OMIM:619164 |
Immunodeficiency 61 |
|
Obesity, Attention deficit hyperactivity disorder, Agammaglobulinemia, Arthritis |
OMIM:300310 |
Testicular Anomalies With Or Without Congenital Heart Disease |
|
Testicular dysgenesis, Micropenis, Ambiguous genitalia, Perineal hypospadias, Cryptorchidism, Mic... |
OMIM:615542 |
Frasier Syndrome |
|
Gonadal dysgenesis with female appearance, male, Hypertension, Streak ovary, Gonadoblastoma, Incr... |
ORPHA:347 |
Immunodeficiency 15A |
|
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... |
OMIM:618204 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Insulin-resistant diabetes mellitus, Elevated circulating growth hormone concentration, Polycysti... |
ORPHA:90301 |
Ane Syndrome |
|
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Pituitary hypothyroi... |
ORPHA:157954 |
Lethal Recessive Chondrodysplasia |
|
Micrognathia, Flared elbow metaphyses, Generalized osteosclerosis, Limb undergrowth, Short long b... |
ORPHA:1423 |
Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
Spermatogenic Failure 5 |
|
Functional abnormality of male internal genitalia, Male infertility |
OMIM:243060 |
Lipodystrophy, Familial Partial, Type 7 |
|
Decreased adipose tissue around neck, Lack of facial subcutaneous fat, Loss of subcutaneous adipo... |
OMIM:606721 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Monkey wrench femoral neck, Genu varum, Epiphyseal dysplasia, Hypoplasia of the capital femoral e... |
OMIM:617719 |
Tetrasomy X |
|
Premature ovarian insufficiency |
ORPHA:9 |
Temple Syndrome |
|
Micrognathia, Small for gestational age, Maturity-onset diabetes of the young, Recurrent otitis m... |
OMIM:616222 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Obesity, Premature ovarian insufficiency |
OMIM:618124 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Increased circulating progesterone, Adrenal hyperplasia, Oligospermia, Hypospadias, Hirsutism, Fu... |
ORPHA:95699 |
Immunodeficiency, Common Variable, 13 |
|
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level |
OMIM:616873 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Tarsal synostosis, Micrognathia, Flat capital femoral epiphysis, Patellar aplasia, Hypoplasia of ... |
OMIM:147891 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Autoimmunity, Lymphadenopathy, Splenomegaly, Increased proportion autoreactive unresponsive CD21-... |
OMIM:615559 |
Central Precocious Puberty |
|
Abnormality of secondary sexual hair, Overgrowth, Hypothalamic hamartoma, Increased circulating g... |
ORPHA:759 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Abnormal penis morphology, Goiter, Abnormality of the menstrual cycle, Alopecia, Polycystic ovari... |
ORPHA:457059 |
Type 2 Diabetes Mellitus |
|
Type II diabetes mellitus, Increased waist to hip ratio, Insulin resistance |
OMIM:125853 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Secondary amenorrhea, Polycystic ovaries, Hypergonadotropic hypogonadism |
OMIM:268020 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Craniosynostosis, Increased bone mineral density |
ORPHA:178377 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Highly arched eyebrow, Lacrimal gland aplasia, Secondary amenorrhea, Oligomenorrhea, Elevated cir... |
ORPHA:572333 |
Cortisone Reductase Deficiency 2 |
|
Obesity, Insulin resistance, Premature pubarche |
OMIM:614662 |
Gordon Holmes Syndrome |
|
Hypogonadotropic hypogonadism, Infertility, Oligomenorrhea |
OMIM:212840 |
Slc35A2-Cdg |
|
Talipes equinovarus, Elevated circulating thyroid-stimulating hormone concentration, Hip subluxat... |
ORPHA:356961 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Craniosynostosis, Increased bone mineral density, Hypophosphatemic rickets, Rickets |
OMIM:241520 |
Oliver-Mcfarlane Syndrome |
|
Hypoplasia of penis, Small for gestational age, Hypogonadotropic hypogonadism, Alopecia, Long eye... |
OMIM:275400 |
Osteoporosis, Juvenile |
|
Osteoporosis |
OMIM:259750 |
Woodhouse-Sakati Syndrome |
|
Fine hair, Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Alopecia,... |
OMIM:241080 |
Immunodeficiency 14A, Autosomal Dominant |
|
Decreased specific pneumococcal antibody level, Increased proportion of transitional B cells, Dec... |
OMIM:615513 |
Pituitary Dwarfism With Large Sella Turcica |
|
Decreased response to growth hormone stimulation test, Hypothyroidism |
OMIM:262710 |
Familial Expansile Osteolysis |
|
Bowing of the long bones, Thin bony cortex, Osteolysis, Pathologic fracture |
OMIM:174810 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Low posterior hairline, Hypogonadism, Abnormal testis morphology, Obesity, Abnormal hair quantity... |
ORPHA:2233 |
Bardet-Biedl Syndrome 19 |
|
Hypogonadism, Obesity, External genital hypoplasia |
OMIM:615996 |
Reticular Dysgenesis |
|
Lack of T cell function, Leukopenia, Impaired T cell function, Hypoplasia of the thymus, Congenit... |
OMIM:267500 |
Isolated Growth Hormone Deficiency, Type Ii |
|
Decreased response to growth hormone stimulation test |
OMIM:173100 |
Panhypopituitarism, X-Linked |
|
Panhypopituitarism |
OMIM:312000 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Primary amenorrhea, Gonadal dysgenesis, Hypergonadotropic hypogonadism |
OMIM:607080 |
Lead Poisoning |
|
Oligospermia, Abnormal sperm morphology, Imbalanced hemoglobin synthesis, Renal tubular dysfuncti... |
ORPHA:330015 |
Otopalatodigital Syndrome Type 1 |
|
Hypoplastic frontal sinuses, Abnormal vertebral segmentation and fusion, Bowing of the long bones... |
ORPHA:90650 |
Bangstad Syndrome |
|
Increased circulating cortisol level, Polycystic ovaries, Abnormal testis morphology, Abnormality... |
ORPHA:1227 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Brachydactyly, Osteoporosis, Short distal phalanx of finger, Joint hyperflexibility |
ORPHA:2787 |
Oocyte Maturation Defect 10 |
|
Female infertility, Spontaneous abortion |
OMIM:619176 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... |
OMIM:616452 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bicornuate uterus |
OMIM:258320 |
Leptin Receptor Deficiency |
|
Abnormal hypothalamus morphology, Aggressive behavior, Pituitary hypothyroidism, Recurrent upper ... |
OMIM:614963 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Irregular epiphyses, Small epiphyses, Hip osteoarthritis, Avascular necrosis of the capital femor... |
OMIM:132400 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Impaired social interactions |
OMIM:606053 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Elevated circulating follicle stimulating hormone level, Sparse pubic hair, Eunuchoid habitus, Ty... |
ORPHA:3044 |
Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Secondary amenorrhea, Goiter, Premature ovarian insufficiency |
OMIM:617175 |
Silver-Russell Syndrome |
|
Hypospadias, Premature adrenarche, Abnormal appendicular skeleton morphology, Micrognathia, Hyper... |
ORPHA:813 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Premature ovarian insufficiency |
OMIM:615889 |
Leptin Deficiency Or Dysfunction |
|
Hypogonadism, Micropenis, Primary amenorrhea, Obesity, Decreased testicular size |
OMIM:614962 |
Angioosteohypotrophic Syndrome |
|
Abnormal foot morphology, Upper limb undergrowth, Thin bony cortex, Hypoplasia of the radius, Abn... |
ORPHA:75508 |
Spondyloepimetaphyseal Dysplasia With Hypotrichosis |
|
Proximal femoral metaphyseal irregularity, Proximal humeral metaphyseal irregularity, Genu varum,... |
OMIM:183849 |
Flynn-Aird Syndrome |
|
Joint stiffness, Osteoporosis, Increased bone mineral density, Increased bone density with cystic... |
OMIM:136300 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hypertrophic cardiomyopathy, Abnormality of skeletal muscle fiber size, Myopathy, Maternal diabet... |
ORPHA:79083 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Abnormality of femur morphology, Patellar aplasia, Fibular hypoplasia, Split hand, Finger syndact... |
ORPHA:3329 |
Chondrodysplasia, Blomstrand Type |
|
Micrognathia, Generalized osteosclerosis, Short ribs, Advanced ossification of carpal bones, Flar... |
OMIM:215045 |
Bardet-Biedl Syndrome 4 |
|
External genital hypoplasia, Renal cyst, Hypogonadism, Obesity, Cryptorchidism |
OMIM:615982 |
Brachyolmia Type 1, Hobaek Type |
|
Short iliac bones, Sclerotic foci of metaphyses of the elbow, Short long bone, Osteopenia, Short ... |
OMIM:271530 |
Panhypophysitis |
|
Normochromic anemia, Decreased female libido, Adrenocorticotropin deficient adrenal insufficiency... |
ORPHA:95513 |
Fanconi Anemia |
|
Hypospadias, Aplasia/Hypoplasia of fingers, Abnormality of the ulna, Abnormal foot morphology, Tr... |
ORPHA:84 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Spermatocele, Obstructive azoospermia, Male infertility |
OMIM:301060 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Type II diabetes mellitus, Tall stature, Insulin resistance, Ambigu... |
ORPHA:91 |
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Vaginal fistula |
ORPHA:2597 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmunity, Thyroid carcinoma, Elevated proportion of CD4-negative, CD8-negative, alpha-beta re... |
ORPHA:3261 |
Acrodysostosis |
|
Abnormality of the ulna, Cone-shaped epiphysis, Epiphyseal stippling, Short metatarsal, Hypoplasi... |
ORPHA:950 |
Adenohypophysitis |
|
Normochromic anemia, Decreased female libido, Adrenocorticotropin deficient adrenal insufficiency... |
ORPHA:95512 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Short lower limbs, Metaphyseal dysplasia, Genu varum, Abnormality of epiphysis morphology, Bowing... |
ORPHA:2501 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Secondary amenorrhea, Loss of subcutaneous adipose tissue in limbs, Dysmenorrhea, Polycystic ovar... |
ORPHA:2348 |
Bardet-Biedl Syndrome 16 |
|
Hypogonadism, Obesity, External genital hypoplasia, Renal cyst |
OMIM:615993 |
Xp22.13P22.2 Duplication Syndrome |
|
Macroorchidism, Congenital diaphragmatic hernia, Polycystic ovaries, Truncal obesity, High anteri... |
ORPHA:284180 |
Spermatogenic Failure 4 |
|
Recurrent spontaneous abortion, Azoospermia |
OMIM:270960 |
Young Syndrome |
|
Obstructive azoospermia, Decreased fertility |
ORPHA:3471 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Truncal obesity, Insulin resistance |
ORPHA:140941 |
Pituitary Adenoma 1, Multiple Types |
|
Hypertension, Increased serum insulin-like growth factor 1, Pituitary growth hormone cell adenoma... |
OMIM:102200 |
Acquired Partial Lipodystrophy |
|
Lipoatrophy, Insulin resistance |
ORPHA:79087 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Micrognathia, Maturity-onset diabetes of the young, Recurrent otitis media, Small hand, Poor eye ... |
ORPHA:254531 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome |
|
Hypospadias, Abnormal vagina morphology, Streak ovary, Gonadoblastoma, Abnormality of the uterus,... |
OMIM:194072 |
Distal Monosomy 10P |
|
Cryptorchidism, Hypoplasia of penis, Polycystic ovaries |
ORPHA:1580 |
Hyperprolactinemia |
|
Menorrhagia, Infertility, Oligomenorrhea, Increased circulating prolactin concentration |
OMIM:615555 |
48,Xxyy Syndrome |
|
Chronic otitis media, Abnormal dental enamel morphology, Pes planus, Elbow dislocation, Anxiety, ... |
ORPHA:10 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
Telangiectasia, Hereditary Benign |
|
Diffuse telangiectasia |
OMIM:187260 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Insulin resistance, Lipodystrophy, Reduced subcutaneous adipose tissue, Generalized lipodystrophy... |
OMIM:612526 |
Donohue Syndrome |
|
Fasting hypoglycemia, Hypertrichosis, Skeletal muscle atrophy, Long penis, Hyperglycemia, Large h... |
OMIM:246200 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism |
OMIM:307500 |
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type) |
|
Amenorrhea, Premature ovarian insufficiency |
OMIM:619425 |
Bardet-Biedl Syndrome 1 |
|
Hirsutism, Foot polydactyly, Micropenis, Syndactyly, Nephrogenic diabetes insipidus, Diabetes mel... |
OMIM:209900 |
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis |
|
Partial vaginal septum, Uterus didelphys, Hematocolpos |
OMIM:192050 |
Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Obesity, Cryptorchidism, Hypoplasia of penis, Aplasia/Hypoplasia of the testes |
ORPHA:3055 |
Cystic Echinococcosis |
|
Eosinophilia, Jaundice, Splenic cyst, Biliary tract obstruction, Hepatic cysts, Renal cyst, Ovari... |
ORPHA:400 |
Lymphoid System Deterioration, Progressive |
|
Abnormal T cell morphology, Decreased circulating IgG level, Lymphopenia, Decreased circulating t... |
OMIM:247630 |
Mehmo Syndrome |
|
Hypoglycemia, Small for gestational age, Aggressive behavior, Micropenis, Male hypogonadism, Inab... |
OMIM:300148 |
Insulin Autoimmune Syndrome |
|
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... |
ORPHA:411593 |
Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Aplasia of the uterus, Hypoparathyroidism, Uterus didelphys, Septate vagina, Primary amenorrhea, ... |
OMIM:146255 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Thin bony cortex, Short 5th metacarpal, Rhizomelia, Pes planus, Femoral bowing, Broad thumb, Shor... |
OMIM:619638 |
Obesity |
|
Obesity, Increased waist to hip ratio |
OMIM:601665 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypogonadotropic hypogonadism, Osteoporosis, Secondary growth hormone deficiency, Absence of seco... |
ORPHA:2235 |
Intermediate Osteopetrosis |
|
Abnormality of bone mineral density, Generalized osteosclerosis, Increased susceptibility to frac... |
ORPHA:210110 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Testicular atrophy, Azoospermia, Hypogonadotropic hypogonadism, Decreased circulating follicle st... |
OMIM:308700 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Male hypogonadism, Azoospermia |
OMIM:241000 |
Bardet-Biedl Syndrome 2 |
|
Dilated cardiomyopathy, External genital hypoplasia, Hypogonadism, Diabetes mellitus, Obesity |
OMIM:615981 |
Luscan-Lumish Syndrome |
|
Overgrowth, Hirsutism, Polycystic ovaries, High anterior hairline, Obesity, Irregular menstruation |
OMIM:616831 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Elevated circulating parathyroid hormone level, Tibial bowing, Fibular bowing, Bowing of the legs... |
OMIM:307800 |
Metatropic Dysplasia |
|
Abnormal cortical bone morphology, Abnormality of the metaphysis, Coarse metaphyseal trabeculariz... |
ORPHA:2635 |
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Infertility, Hypogonadotropic hypogonadism, Abnormality of the urethra, Ambiguous genitalia, Cryp... |
ORPHA:752 |
Kallmann Syndrome With Spastic Paraplegia |
|
Testicular atrophy, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hor... |
OMIM:308750 |
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Obesity, Finger joint hypermobility, Gait disturbance |
ORPHA:436141 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Joint stiffness, Obesity |
ORPHA:1078 |
Spondyloepiphyseal Dysplasia Congenita |
|
Abnormal foot morphology, Upper limb undergrowth, Micrognathia, Small epiphyses, Laryngotracheoma... |
ORPHA:94068 |
Immunodeficiency 75 |
|
Lymphadenopathy, Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Folli... |
OMIM:619126 |
Vaginal Atresia |
|
Imperforate hymen, Vaginal hematocele, Uterus didelphys, Abnormality of the uterus, Vaginal atres... |
ORPHA:65681 |
Galactokinase Deficiency |
|
Hepatomegaly, Hypergalactosemia, Hypoglycemia, Small for gestational age, Increased level of gala... |
ORPHA:79237 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Hypospadias, Short femur, Small for gestational age, Talipes equinovarus, Failure to thrive, Rhiz... |
OMIM:607143 |
Hymen, Imperforate |
|
Hydrocolpos, Imperforate hymen, Amenorrhea, Hematocolpos |
OMIM:237100 |
Urban-Rogers-Meyer Syndrome |
|
Toe syndactyly, Micrognathia, Abnormality of the ureter, Flexion contracture of toe, Abnormality ... |
ORPHA:3409 |
48,Xxxy Syndrome |
|
Talipes equinovarus, Chronic otitis media, Renal dysplasia, Abnormal dental enamel morphology, Pe... |
ORPHA:96263 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Fasting hypoglycemia, Hypoglycemia, Portal fibrosis, Splenomegaly, Abnormal erythrocyte enzyme le... |
ORPHA:264580 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypospadias, Multiple prenatal fractures, Short ribs, Micropenis, Short femur, Hypertrophic cardi... |
OMIM:616897 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Micrognathia, Hypoglycemia, Small for gestational age, Insulin resistance, Failure to thrive, Neo... |
ORPHA:73272 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Increased adipose tissue, Type II diabetes mellitus, Hyperinsulinemia, Obesity, Childhood-onset t... |
ORPHA:71529 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Telangiectasia, Micrognathia, Insulin resistance, Osteoporosis, Kyphosis, Hypogonadism, Diabetes ... |
OMIM:615381 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Renal hypoplasia, Micrognathia, Ventricular septal defect, Abnormality of mesentery morphology, H... |
ORPHA:2256 |
Pseudoachondroplasia |
|
Genu varum, Metaphyseal irregularity, Abnormality of femoral epiphysis, Limited elbow extension, ... |
ORPHA:750 |
Borjeson-Forssman-Lehmann Syndrome |
|
Hypoplasia of the prostate, Widely spaced toes, Tapered finger, Shortening of all distal phalange... |
OMIM:301900 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Azoospermia, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size |
OMIM:614897 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Adrenal insufficiency, Neonatal hypoglycemia, Hypogonadism, Panhypopituitarism, Hypothyroidism, H... |
OMIM:262600 |
Immunodeficiency 68 |
|
B lymphocytopenia, Lymphadenitis, Abscess, T lymphocytopenia, Abnormal natural killer cell count |
OMIM:612260 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... |
ORPHA:231154 |
Osteopetrosis, Autosomal Dominant 2 |
|
Hip osteoarthritis, Fractures of the long bones, Osteopetrosis, Generalized osteosclerosis, Mandi... |
OMIM:166600 |
Caffey Disease |
|
Cortical thickening of long bone diaphyses, Periosteal thickening of long tubular bones, Increase... |
ORPHA:1310 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Hypospadias, Metatarsus adductus, Micrognathia, Hydronephrosis, Aminoaciduria, Talipes equinovaru... |
OMIM:214100 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Type II diabetes mellitus, Small scrotum, Eunuchoid habitus, Hypogonadism, Obesity, Hypoplasia of... |
ORPHA:2234 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Hypertension, Nephrotic syndrome, Anemia, Hyperlordosis, Type I diabetes mellitus, Nephropathy, L... |
ORPHA:1192 |
Immunodeficiency 13 |
|
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased CD... |
OMIM:615518 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial osteosclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis, Cortical sclerosis |
OMIM:122860 |
Gnathodiaphyseal Dysplasia |
|
Diaphyseal cortical sclerosis, Increased susceptibility to fractures, Bowing of the long bones, O... |
OMIM:166260 |
Temple Syndrome |
|
Type II diabetes mellitus, Small for gestational age, Small hand, Precocious puberty, Recurrent h... |
ORPHA:254516 |
Adrenocortical Carcinoma |
|