| Asperger syndrome susceptibility, X-linked 2 |
|
Abnormal nonverbal communicative behavior, Impaired ability to form peer relationships |
OMIM:300497 |
| Asperger syndrome, X-linked, susceptibility to, 1 |
|
Abnormal nonverbal communicative behavior, Impaired ability to form peer relationships |
OMIM:300494 |
| Asperger Syndrome, Susceptibility To, 1 |
|
Abnormal nonverbal communicative behavior, Impaired ability to form peer relationships |
OMIM:608638 |
| Asperger Syndrome, Susceptibility To, 2 |
|
Abnormal nonverbal communicative behavior, Impaired ability to form peer relationships |
OMIM:608631 |
| Partial Chromosome Y Deletion |
|
Abnormal spermatogenesis, Decreased testicular size, Non-obstructive azoospermia, Oligospermia, M... |
ORPHA:1646 |
| Spermatogenic Failure 8 |
|
Oligospermia, Cryptozoospermia, Azoospermia |
OMIM:613957 |
| Spermatogenic Failure 25 |
|
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Male infert... |
OMIM:617960 |
| Spermatogenic Failure 1 |
|
Oligospermia, Cryptozoospermia, Male infertility |
OMIM:258150 |
| Ovarian Dysgenesis 7 |
|
Primary amenorrhea, Delayed puberty, Hypoplasia of the uterus |
OMIM:618117 |
| Spermatogenic Failure 30 |
|
Spermatogenesis maturation arrest, Azoospermia, Cryptozoospermia, Male infertility, Cryptorchidism |
OMIM:618110 |
| Spermatogenic Failure 63 |
|
Decreased testicular size, Oligospermia, Male infertility, Reduced progressive sperm motility |
OMIM:619689 |
| Testicular Torsion |
|
Testicular torsion, Torsion of appendix of testis |
OMIM:187400 |
| Ovarian Dysgenesis 6 |
|
Primary amenorrhea, Absence of pubertal development, Hypergonadotropic hypogonadism, Hypoplasia o... |
OMIM:618078 |
| Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal spermatogenesis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, A... |
ORPHA:488191 |
| Spermatogenic Failure 51 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Macroceph... |
OMIM:619177 |
| Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia |
OMIM:619108 |
| Spermatogenic Failure 54 |
|
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,... |
OMIM:619379 |
| Spermatogenic Failure, X-Linked, 3 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:301059 |
| Spermatogenic Failure 40 |
|
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Coiled sperm flagell... |
OMIM:618664 |
| Spermatogenic Failure 76 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:620084 |
| Spermatogenic Failure 65 |
|
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... |
OMIM:619712 |
| Premature Ovarian Failure 3 |
|
Premature ovarian insufficiency, Secondary amenorrhea, Hypoplasia of the uterus |
OMIM:608996 |
| Spermatogenic Failure 47 |
|
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm |
OMIM:619102 |
| Testicular Microlithiasis |
|
Testicular microlithiasis |
OMIM:610441 |
| Spermatogenic Failure 56 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:619515 |
| Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
| Spermatogenic Failure 39 |
|
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe... |
OMIM:618643 |
| Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:614822 |
| Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:615081 |
| Spermatogenic Failure 58 |
|
Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog... |
OMIM:619585 |
| Spermatogenic Failure 41 |
|
Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm |
OMIM:618670 |
| Premature Ovarian Failure 14 |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:618014 |
| Premature Ovarian Failure 17 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased cirrculating... |
OMIM:619146 |
| Spermatogenic Failure 70 |
|
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility |
OMIM:619828 |
| Ovarian Dysgenesis 9 |
|
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube... |
OMIM:619665 |
| Premature Ovarian Failure 7 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Absent pubic hair, Elevated circulating lu... |
OMIM:612964 |
| Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
| Ovarian Dysgenesis 2 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Delayed puberty, Hypergonadotropic hypogon... |
OMIM:300510 |
| Premature Ovarian Failure 18 |
|
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ... |
OMIM:619203 |
| Leydig Cell Hypoplasia, Type I |
|
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism |
OMIM:238320 |
| Spermatogenic Failure 7 |
|
Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm |
OMIM:612997 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Abnormal sperm mid-piece morphology, Reduced sperm motility, Oligospermia, Male infertility, Acep... |
ORPHA:529970 |
| Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology |
OMIM:619696 |
| Spermatogenic Failure 32 |
|
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia |
OMIM:618115 |
| Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia |
OMIM:619831 |
| Hydatidiform Mole |
|
Menometrorrhagia, Hyperthyroidism, Enlarged uterus |
ORPHA:99927 |
| Endometriosis, Susceptibility To, 1 |
|
Endometriosis, Dysmenorrhea, Decreased fertility |
OMIM:131200 |
| 46,Xx Testicular Disorder Of Sex Development |
|
Male hypogonadism, Ambiguous genitalia, Polycystic ovaries, Decreased testicular size |
ORPHA:393 |
| Ovarian Dysgenesis 5 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Primary amenorrhea, El... |
OMIM:617690 |
| Premature Ovarian Failure 13 |
|
Female infertility, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Amen... |
OMIM:617442 |
| Premature Ovarian Failure 2A |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:300511 |
| 46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Abnormal circulating corticosterone level, Primary amenorrhea, Hypoplasia of the uterus, Primary ... |
ORPHA:90796 |
| Premature Ovarian Failure 6 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... |
OMIM:612310 |
| Perrault Syndrome 6 |
|
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea... |
OMIM:617565 |
| Familial Hyperprolactinemia |
|
Female hypogonadism, Hemorrhagic ovarian cyst, Infertility, Menorrhagia, Oligomenorrhea, Amenorrhea |
ORPHA:397685 |
| Hypogonadism, Male |
|
Male hypogonadism, Testicular atrophy, Hypospadias, Micropenis |
OMIM:241100 |
| Precocious Puberty, Central, 1 |
|
Hypothyroidism, Elevated circulating follicle stimulating hormone level, Elevated circulating lut... |
OMIM:176400 |
| Ovarian Dysgenesis 10 |
|
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated cir... |
OMIM:619834 |
| Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size |
OMIM:619145 |
| Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:619011 |
| Complete Androgen Insensitivity Syndrome |
|
Abnormal uterine cervix morphology, Absent pubic hair, Blind vagina, Primary amenorrhea, Testicul... |
ORPHA:99429 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Primary amenorrhea, Decreased serum estradiol, Decreased testicular size, Decreased serum testost... |
OMIM:614841 |
| Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:617743 |
| Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:616780 |
| Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia, Decreased testi... |
OMIM:619528 |
| Premature Ovarian Failure 20 |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:619938 |
| 46,Xy Sex Reversal 11 |
|
Urogenital sinus anomaly, Abnormal internal genitalia, Primary amenorrhea, Aplasia of the uterus,... |
OMIM:273250 |
| Premature Ovarian Failure 8 |
|
Decreased serum estradiol, Premature ovarian insufficiency, Elevated circulating follicle stimula... |
OMIM:615723 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Ambiguous genitalia, Gonadoblastoma, Adrenal insufficiency, Increased circulating gonadotropin le... |
ORPHA:251510 |
| Melorheostosis With Osteopoikilosis |
|
Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Oste... |
ORPHA:1879 |
| Spermatogenic Failure, X-Linked, 4 |
|
Abnormal prolactin level, Elevated circulating luteinizing hormone level, Elevated circulating fo... |
OMIM:301077 |
| Avascular Necrosis Of Femoral Head, Primary, 1 |
|
Generalized osteoporosis, Avascular necrosis of the capital femoral epiphysis |
OMIM:608805 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Primary amenorrhea, Gonadoblastoma, Abnormality of female external genitalia, Decreased serum est... |
ORPHA:168563 |
| Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Epiphyseal stippling, Short humerus, Rhizomelia, Short femur |
OMIM:600121 |
| Perrault Syndrome 3 |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:614129 |
| Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating luteinizing hormon... |
OMIM:615724 |
| Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
| Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
| Premature Ovarian Failure 10 |
|
Hypothyroidism, Decreased testicular size, Premature ovarian insufficiency, Azoospermia, Hypoplas... |
OMIM:612885 |
| Ovarian Dysgenesis 3 |
|
Aplasia of the ovary, Delayed puberty, Female infertility, Elevated circulating luteinizing hormo... |
OMIM:614324 |
| Osteochondrosis Of The Metatarsal Bone |
|
Pedal edema, Abnormality of the third metatarsal bone, Abnormality of the fifth metatarsal bone, ... |
ORPHA:564003 |
| Perrault Syndrome 4 |
|
Decreased serum estradiol, Bicornuate uterus, Premature ovarian insufficiency, Secondary amenorrh... |
OMIM:615300 |
| Androgen Insensitivity Syndrome |
|
Sparse axillary hair, Labial hypoplasia, Sparse pubic hair, Inguinal hernia, Absent facial hair, ... |
OMIM:300068 |
| Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased t... |
OMIM:614837 |
| Spermatogenic Failure 28 |
|
Decreased testicular size, Non-obstructive azoospermia, Male infertility, Elevated circulating lu... |
OMIM:618086 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... |
OMIM:614842 |
| Müllerian Aplasia And Hyperandrogenism |
|
High anterior hairline, Increased serum testosterone level, Synophrys, Abnormality of the ovary, ... |
ORPHA:247768 |
| 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 |
| Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Azoospermia |
OMIM:613909 |
| 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 |
| Spermatogenic Failure 74 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619937 |
| Spermatogenic Failure 73 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619878 |
| Diethylstilbestrol Syndrome |
|
Decreased fertility in females, Abnormal testis morphology, Premature ovarian insufficiency, Vagi... |
ORPHA:1916 |
| Uterine Anomalies |
|
Abnormality of the uterus, Bicornuate uterus |
OMIM:192000 |
| Premature Ovarian Failure 19 |
|
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:619245 |
| Spermatogenic Failure 12 |
|
Abnormal male germ cell morphology, Infertility, Azoospermia |
OMIM:615413 |
| 12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
| Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
| Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
| Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density, Pedal edema |
ORPHA:75325 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal cortical bone morphology, Abnormal pelvic girdle bone morphol... |
ORPHA:1802 |
| 46,Xx Sex Reversal 2 |
|
Sex reversal, Hypoplasia of the vagina, Bifid scrotum, True hermaphroditism, Azoospermia, Ovotest... |
OMIM:278850 |
| Estrogen Resistance |
|
Increased serum estradiol, Hyperinsulinemia, Breast aplasia, Polycystic ovaries, Delayed puberty,... |
OMIM:615363 |
| Functioning Gonadotropic Adenoma |
|
Impotence, Anterior hypopituitarism, Decreased female libido, Oligospermia, Increased circulating... |
ORPHA:91348 |
| Buschke-Ollendorff Syndrome |
|
Lower limb asymmetry, Joint stiffness, Flexion contracture, Osteopoikilosis |
OMIM:166700 |
| Spermatogenic Failure 38 |
|
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... |
OMIM:618433 |
| Spermatogenic Failure 77 |
|
Azoospermia, Oligospermia, Male infertility, Abnormal circulating testosterone concentration, Abn... |
OMIM:620103 |
| Pituitary Adenoma 2, Growth Hormone-Secreting |
|
Elevated circulating growth hormone concentration, Pituitary adenoma |
OMIM:300943 |
| 46,Xy Sex Reversal 3 |
|
Ambiguous genitalia, Sex reversal, Penoscrotal hypospadias, Elevated circulating luteinizing horm... |
OMIM:612965 |
| Hyperostosis Corticalis Generalisata |
|
Cranial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Diaphyseal t... |
ORPHA:3416 |
| Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Male infertility, Azoospermia |
ORPHA:276183 |
| Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Hirsutism, Oligomenorrhea, Obesity, Amenorrhea |
OMIM:184700 |
| Partial Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, Male sexual dysfunction, Blind vagina, Primary amenorrhea, Increased circula... |
ORPHA:90797 |
| Gonadoblastoma |
|
Ambiguous genitalia, Increased serum testosterone level, Gonadal dysgenesis with female appearanc... |
ORPHA:206484 |
| Estrogen Resistance Syndrome |
|
Hyperinsulinemia, Abnormality of the pubic hair, Enlarged polycystic ovaries, Absence of secondar... |
ORPHA:785 |
| Spermatogenic Failure, X-Linked, 1 |
|
Sertoli cell-only phenotype, Obesity |
OMIM:305700 |
| Multiple Symmetric Lipomatosis |
|
Multiple lipomas, Abnormal adipose tissue morphology, Insulin resistance |
ORPHA:2398 |
| Spermatogenic Failure 35 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Male infe... |
OMIM:618341 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Aplasia of the vagina, Amenorrhea, Hypoplasia of the uterus |
OMIM:277000 |
| Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
| Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
| Premature Ovarian Failure 16 |
|
Premature ovarian insufficiency, Elevated circulating follicle stimulating hormone level, Reduced... |
OMIM:618723 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Abnormal spermatogenesis, Decreased testicular size, Azoospermia, Non-obstructive azoospermia, In... |
ORPHA:399805 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... |
ORPHA:90793 |
| Hepatic Adenomas, Familial |
|
Polycystic ovaries |
OMIM:142330 |
| Prader-Willi syndrome (Type 1) |
|
Hypogonadism, Truncal obesity |
DECIPHER:14 |
| Prader-Willi Syndrome (Type 2) |
|
Hypogonadism, Truncal obesity |
DECIPHER:53 |
| Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
| Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short tibia, Absent ossification of thoracic vertebral bodies, Hypoplasia of the radius, Lytic de... |
OMIM:601376 |
| Osteosclerotic Metaphyseal Dysplasia |
|
Increased bone mineral density, Dense metaphyseal bands, Metaphyseal dysplasia, Clavicular sclerosis |
OMIM:615198 |
| Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Decreased testicu... |
OMIM:229070 |
| Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
| Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
| Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
| 46,Xy Complete Gonadal Dysgenesis |
|
Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis |
ORPHA:242 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia, Decreased circulating IgG level |
OMIM:233650 |
| Hypogonadism-Cataract Syndrome |
|
Male hypogonadism, Elevated circulating follicle stimulating hormone level, Infertility, Hypogona... |
OMIM:240950 |
| Spermatogenic Failure 20 |
|
Absent sperm flagella, Short sperm flagella, Coiled sperm flagella, Male infertility |
OMIM:617593 |
| X-Linked Intellectual Disability, Van Esch Type |
|
Absence of secondary sex characteristics, Decreased testicular size, Type II diabetes mellitus, C... |
ORPHA:163976 |
| Ovarian Fibrothecoma |
|
Increased serum testosterone level, Gonadal calcification, Abnormal circulating hormone concentra... |
ORPHA:314478 |
| Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
| Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
| Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
| Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
| Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
| Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
| Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
| Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
| Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Female infertility |
OMIM:617996 |
| Spermatogenic Failure 75 |
|
Early spermatogenesis maturation arrest, Elevated circulating follicle stimulating hormone level,... |
OMIM:619949 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Testicular microlithiasis, Abnormal spermatogenesis, Decreased circulating dihydrotestosterone co... |
OMIM:228300 |
| Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
| Premature Ovarian Failure 15 |
|
Irregular menstruation, Secondary amenorrhea, Decreased cirrculating antimullerian hormone circul... |
OMIM:618096 |
| Kennedy Disease |
|
Decreased fertility, Testicular atrophy, Erectile dysfunction, Type II diabetes mellitus |
ORPHA:481 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Abnormal circulating hormone co... |
ORPHA:280356 |
| 46,Xy Sex Reversal 1 |
|
Ambiguous genitalia, Abnormality of female external genitalia, Gonadoblastoma, Sex reversal, Abse... |
OMIM:400044 |
| Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Ambiguous genitalia, Gonadoblastoma, Abnormal spermatogenesis, Ambiguou... |
ORPHA:261529 |
| Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Elevated serum 11-deoxycortisol, Adrenogenital syndrome, Increased serum testosterone level, Decr... |
OMIM:202010 |
| Spermatogenic Failure 72 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Irregular... |
OMIM:619867 |
| Spermatogenic Failure 34 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:618153 |
| Xp22.3 Microdeletion Syndrome |
|
Hypogonadotropic hypogonadism, Polycystic ovaries, Secondary amenorrhea, Decreased fertility |
ORPHA:1643 |
| Isochromosomy Yp |
|
Decreased testicular size, Ambiguous genitalia, Male infertility, Azoospermia |
ORPHA:98797 |
| Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hypotension, Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Ambiguo... |
ORPHA:90791 |
| 49,Xyyyy Syndrome |
|
Primary gonadal insufficiency, Short 5th finger, Abnormality of the testis size, Generalized join... |
ORPHA:99330 |
| Spermatogenic Failure 29 |
|
Male infertility, Immotile sperm, Non-obstructive azoospermia |
OMIM:618091 |
| Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Sparse body hair, Small hand, Hypogonadism, Decreased testicular size, Small for gestational age,... |
OMIM:300869 |
| Spermatogenic Failure 14 |
|
Azoospermia, Late spermatogenesis maturation arrest, Abnormal prolactin level, Male infertility, ... |
OMIM:615842 |
| X-Linked Intellectual Disability, Cilliers Type |
|
Small hand, Absence of secondary sex characteristics, Decreased testicular size, Coronal craniosy... |
ORPHA:163971 |
| Immunodeficiency 24 |
|
Decreased CD4:CD8 ratio, Decreased circulating IgG level, Reduced proportion of mucosal-associate... |
OMIM:615897 |
| Hyperprolactinemia |
|
Female infertility, Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea |
OMIM:615555 |
| Spermatogenic Failure 46 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:619095 |
| Spermatogenic Failure 33 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:618152 |
| Spermatogenic Failure 37 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:618429 |
| Spermatogenic Failure 18 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:617576 |
| Spermatogenic Failure 27 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:617965 |
| Osteopetrosis, Autosomal Recessive 6 |
|
Dense metaphyseal bands, Cortical sclerosis of the iliac wing, Osteopetrosis, Erlenmeyer flask de... |
OMIM:611497 |
| Ovarian Dysgenesis 8 |
|
Hypoplastic labia majora, Eunuchoid habitus, Elevated circulating luteinizing hormone level, Elev... |
OMIM:618187 |
| 46,Xy Sex Reversal 7 |
|
Abnormal epididymis morphology, Gonadoblastoma, Gonadal dysgenesis, male, Sex reversal, Hypoplasi... |
OMIM:233420 |
| Non-Functioning Pituitary Adenoma |
|
Hypotension, Impotence, Anterior hypopituitarism, Adrenal insufficiency, Decreased female libido,... |
ORPHA:91349 |
| Gnathodiaphyseal Dysplasia |
|
Recurrent fractures, Thickened cortex of long bones, Mandibular osteomyelitis, Osteopenia, Bowing... |
ORPHA:53697 |
| Bardet-Biedl Syndrome 11 |
|
Obesity, Hypogonadism |
OMIM:615988 |
| Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Recurrent fractures, Increased bone mineral density, Cortical thickening of long bone diaphyses, ... |
OMIM:166740 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Thin bony cortex, Generalized bone demineralization, Genu valgum, Metaphyseal irregularity, Genu ... |
OMIM:600785 |
| Sclerosteosis |
|
Finger syndactyly, 2-3 finger syndactyly, Increased bone mineral density, Curved distal phalanges... |
ORPHA:3152 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Impotence, Camptodactyly, Primary amenorrhea, Hypoplasia of the uterus, Sparse body hair, General... |
ORPHA:432 |
| Obesity Due To Congenital Leptin Deficiency |
|
Primary amenorrhea, Orthostatic hypotension due to autonomic dysfunction, Hyperinsulinemia, Decre... |
ORPHA:66628 |
| 49,Xxxyy Syndrome |
|
Primary gonadal insufficiency, Ambiguous genitalia, Abnormality of the testis size, External geni... |
ORPHA:261534 |
| Ovarian Dysgenesis 4 |
|
Elevated circulating follicle stimulating hormone level, Decreased serum estradiol, Primary ameno... |
OMIM:616185 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Primary amenorrhea, Orthostatic hypotension due to autonomic dysfunction, Hyperinsulinemia, Decre... |
ORPHA:179494 |
| Mueller-Weiss Syndrome |
|
Pedal edema, Fragmented, irregular epiphyses, Limitation of movement at ankles, Tibial torsion, S... |
ORPHA:566943 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Increased bone mineral density, Ectopic ossification |
OMIM:602475 |
| Bdv Syndrome |
|
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin... |
OMIM:619326 |
| Spermatogenic Failure 43 |
|
Absent sperm flagella, Absent sperm axoneme central pair complex, Reduced sperm motility, Male in... |
OMIM:618751 |
| Spermatogenic Failure 49 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619094 |
| Spermatogenic Failure 19 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:617592 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperlordosis, Hyperinsulinemia, Short toe, Broad foot, Kyphosis, Secondary amenorrhea, Decreased... |
ORPHA:3085 |
| 46,Xx Ovotesticular Disorder Of Sex Development |
|
Urogenital sinus anomaly, Decreased fertility, Ambiguous genitalia, Bifid scrotum, Abnormal male ... |
ORPHA:2138 |
| Nephrotic Syndrome, Type 14 |
|
Hypothyroidism, Hypogonadism, Nephrotic syndrome, Adrenal insufficiency, Stage 5 chronic kidney d... |
OMIM:617575 |
| Satoyoshi Syndrome |
|
Sparse or absent eyelashes, Abnormality of the ovary, Alopecia universalis, Abnormality of the ut... |
ORPHA:3130 |
| 47,Xyy Syndrome |
|
Macroorchidism, Increased serum testosterone level, Azoospermia, Increased circulating gonadotrop... |
ORPHA:8 |
| Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
| Ribbing Disease |
|
Diaphyseal sclerosis |
OMIM:601477 |
| Eiken Syndrome |
|
Short phalanx of finger, Thin bony cortex, Broad foot, Short toe, Abnormal bone ossification, Met... |
ORPHA:79106 |
| Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Osteopenia, Hypogonadotropic hypogonadism, Osteoporosis |
OMIM:615269 |
| Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
| Van Buchem Disease |
|
Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis |
OMIM:239100 |
| Testicular Regression Syndrome |
|
Decreased fertility, Ambiguous genitalia, Decreased testicular size, Abnormal male internal genit... |
ORPHA:983 |
| Oocyte/Zygote/Embryo Maturation Arrest 16 |
|
Infertility |
OMIM:617234 |
| Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Clavicu... |
ORPHA:2790 |
| Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
| Mccune-Albright Syndrome |
|
Precocious puberty, Abnormal testis morphology, Hyperphosphaturia, Hyperplasia of the Leydig cell... |
ORPHA:562 |
| Premature Ovarian Failure 1 |
|
Increased circulating gonadotropin level |
OMIM:311360 |
| Isochromosomy Yq |
|
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Ambiguous genitalia, Decr... |
ORPHA:98798 |
| Syndromic X-Linked Intellectual Disability 7 |
|
Sparse body hair, Hypogonadism, Hypoplasia of penis, Cryptorchidism, Obesity, Micropenis |
ORPHA:85274 |
| Spermatogenic Failure 42 |
|
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf... |
OMIM:618745 |
| Spermatogenic Failure 24 |
|
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Microcephalic sperm head, Coile... |
OMIM:617959 |
| Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Polycystic ovaries, Precocious puberty, Hypergonadotropic hypogonadism |
ORPHA:2229 |
| Pituicytoma |
|
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... |
ORPHA:251623 |
| Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Female infertility, Primary amenorrhea |
OMIM:300604 |
| Spermatogenic Failure 15 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Abnormal circul... |
OMIM:616950 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Female hypogonadism, Gonadotropin deficiency, Decreased serum estradiol, Decreased testicular siz... |
ORPHA:52901 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Decreased testicular size, Abnormality of the ovary, Hypogonadism |
ORPHA:1875 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Ambiguous genitalia, Premature thelarche, Precocious puberty, Ambiguous genitalia, female, Decrea... |
ORPHA:90795 |
| Premature Ovarian Failure 11 |
|
Elevated circulating follicle stimulating hormone level, Oligomenorrhea, Secondary amenorrhea |
OMIM:616946 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Impotence, Small pituitary gland, Increased circulating gonadotropin level, Primary amenorrhea, L... |
ORPHA:2232 |
| Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Uterus didelphys, Metrorrhagia, Partial vaginal septum, Abnormal uterine cervix morphology, Dyspa... |
ORPHA:3411 |
| Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Vaginal mucosal ulceration |
OMIM:618287 |
| Acrocapitofemoral Dysplasia |
|
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Enlargement of the... |
OMIM:607778 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hypotension, Ambiguous genitalia, Decreased circulating aldosterone level, Ambiguous genitalia, f... |
ORPHA:90794 |
| Rudiger Syndrome |
|
Ovarian cyst, Micropenis, Bicornuate uterus |
OMIM:268650 |
| Aromatase Deficiency |
|
Female pseudohermaphroditism, Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea |
OMIM:613546 |
| Leydig Cell Hypoplasia |
|
Ambiguous genitalia, Breast aplasia, Increased circulating gonadotropin level, Primary amenorrhea... |
ORPHA:755 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Globozoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular s... |
ORPHA:399808 |
| Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the vagina, Aplasia of the fallopian tube, Aplasia of the uterus, Hirsutism, Primary a... |
OMIM:158330 |
| Ovarian Dysgenesis 1 |
|
Increased circulating gonadotropin level, Gonadal dysgenesis, Primary amenorrhea |
OMIM:233300 |
| Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Thin bony cortex, Broad tibial metaphyses, Increased bone mineral density, Broad femoral head, Fi... |
ORPHA:85188 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
| Insulin-Resistance Syndrome Type B |
|
Decreased circulating complement factor B concentration, Abnormal circulating lipid concentration... |
ORPHA:2298 |
| Rhizomelic Dysplasia, Ain-Naz Type |
|
Rhizomelia, Short femoral neck, Wide distal femoral metaphysis, Hip dysplasia, Limitation of join... |
OMIM:619598 |
| 46,Xx Sex Reversal 5 |
|
Urogenital sinus anomaly, Ambiguous genitalia, Aplasia of the left hemidiaphragm, Increased serum... |
OMIM:618901 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Decreased fertility, Testicular atrophy |
OMIM:313200 |
| Testicular Agenesis |
|
Urogenital sinus anomaly, Ambiguous genitalia, Absent external genitalia, Urethrovaginal fistula,... |
ORPHA:325124 |
| Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrocephalic sperm head |
OMIM:243060 |
| Glucocorticoid Resistance, Generalized |
|
Irregular menstruation, Increased serum testosterone level, Increased circulating cortisol level,... |
OMIM:615962 |
| Maturity-Onset Diabetes Of The Young, Type 11 |
|
Obesity, Overweight, Maturity-onset diabetes of the young |
OMIM:613375 |
| Polyembryoma |
|
Irregular menstruation, Isosexual precocious puberty, Macroorchidism, Increased serum testosteron... |
ORPHA:180229 |
| Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, male, Abnormality of the uterus, Delayed puberty, Male pseudohermaphroditism... |
ORPHA:754 |
| Cortisone Reductase Deficiency 1 |
|
Alopecia, Precocious puberty, Infertility, Hirsutism, Oligomenorrhea, Obesity |
OMIM:604931 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, B lymphocytopenia, Abnormally low T cell receptor excision circl... |
OMIM:618987 |
| Post-Traumatic Pituitary Deficiency |
|
Hypotension, Abnormality of secondary sexual hair, Decreased response to growth hormone stimulati... |
ORPHA:95619 |
| Bardet-Biedl Syndrome 10 |
|
Renal cyst, Obesity, Hypogonadism |
OMIM:615987 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia |
ORPHA:48 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Aplasia of the uterus, Hypoplasia of the vagina |
ORPHA:3109 |
| Fowler Urethral Sphincter Dysfunction Syndrome |
|
Abnormality of the ovary, Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ure... |
ORPHA:2795 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Decreased circulating IgG level |
OMIM:242870 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus |
OMIM:601076 |
| Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
| Fibular Hemimelia |
|
Short tibia, Hip subluxation, Limited knee flexion/extension, Hypoplastic acetabulae, Toe syndact... |
ORPHA:93323 |
| Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, B lymphocytopenia |
OMIM:616941 |
| Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Primary amenorrhea, Microphallus, Decreased testicular size, Cryptorchidism, Hypogonadotropic hyp... |
OMIM:614840 |
| Immunodeficiency 84 |
|
Splenomegaly, B lymphocytopenia, Perianal abscess |
OMIM:619437 |
| Acromesomelic Dysplasia 3 |
|
Aplasia of the proximal phalanx of the 2nd finger, Short phalanx of finger, Broad foot, Radial de... |
OMIM:609441 |
| 46,Xy Sex Reversal 5 |
|
Elevated circulating follicle stimulating hormone level |
OMIM:613080 |
| Spermatogenic Failure 2 |
|
Azoospermia, Non-obstructive azoospermia, Oligospermia, Male infertility, Abnormal circulating te... |
OMIM:108420 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density, Hyperinsulinemia, Obesity, Tall stature |
OMIM:618406 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Progressive loss of facial adipose tissue, Diabetes mellitus, Polycystic ovaries, Loss of subcuta... |
OMIM:608709 |
| Popliteal Pterygium Syndrome |
|
Hypoplasia of the vagina, Bifid scrotum, Hypoplastic labia majora, Cryptorchidism, Small scrotum,... |
OMIM:119500 |
| Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Decreased fertility, Recurrent fractures, Absence of secondary sex characteristics, Increased cir... |
ORPHA:2410 |
| Hyperostosis Frontalis Interna |
|
Irregular menstruation, Increased circulating prolactin concentration, Diabetes mellitus, Obesity... |
OMIM:144800 |
| Familial Cylindromatosis |
|
Telangiectasia of the skin |
ORPHA:211 |
| Aarskog-Scott Syndrome |
|
Broad foot, Short 5th finger, Short neck, Radial deviation of finger, Short palm, Cervical spine ... |
OMIM:305400 |
| Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
| Growth Hormone Insensitivity Syndrome |
|
Diabetes insipidus, Hypogonadism, Type II diabetes mellitus, Hypoplasia of penis, Insulin resista... |
ORPHA:181393 |
| Seckel Syndrome 7 |
|
Central hypothyroidism, Abnormal carpal morphology, Lumbar scoliosis, Short middle phalanx of the... |
OMIM:614851 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Foot acroosteolysis, Abnormality of the knee, Tapered finger, Abnormality of the ankle, Abnormal ... |
ORPHA:970 |
| Porokeratosis 2, Palmar, Plantar, And Disseminated Type |
|
Palmar telangiectasia, Plantar telangiectasia |
OMIM:175850 |
| Spermatogenic Failure 78 |
|
Microcephalic sperm head, Male infertility, Tapered sperm head |
OMIM:620170 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Large for gestational age, Neonatal hypoglycemia, Truncal obesity |
OMIM:240900 |
| Isolated Osteopoikilosis |
|
Tarsal sclerosis, Abnormal bone ossification, Abnormal long bone morphology, Increased bone miner... |
ORPHA:166119 |
| Dysplastic Cortical Hyperostosis |
|
Increased bone mineral density, Limb undergrowth, Abnormal cortical bone morphology, Abnormality ... |
ORPHA:2204 |
| Congenital Factor Vii Deficiency |
|
Post-partum hemorrhage, Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Gingival ble... |
ORPHA:327 |
| Hip Dysplasia, Beukes Type |
|
Broad femoral neck, Abnormal bone ossification, Coxa vara, Abnormality of the epiphysis of the fe... |
ORPHA:2114 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Alopeci... |
ORPHA:453533 |
| Bardet-Biedl Syndrome 5 |
|
External genital hypoplasia, Obesity, Micropenis, Hypogonadism |
OMIM:615983 |
| Immunodeficiency 105 |
|
Increased B cell count, Reduced natural killer cell count, Decreased circulating total IgM, T lym... |
OMIM:619924 |
| Immunodeficiency 19 |
|
Abnormal natural killer cell morphology, T lymphocytopenia, Abnormal B cell morphology |
OMIM:615617 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Hypertension, Diabetes mellitus, Polycystic ovaries, Pancreatitis |
ORPHA:79084 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Hypothyroidism, Splenomegaly, Weight loss, Elevated jugular venous pressure, Arthritis, Testicula... |
ORPHA:465508 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, Neutropenia, B lymphocytopenia |
OMIM:613107 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Hypothyroidism, Ambiguous genitalia, Gonadoblastoma, Short 4th metacarpal, Hallux valgus, Ambiguo... |
ORPHA:1772 |
| Spermatogenic Failure 21 |
|
Infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:617644 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Abnormality of thalamus morphology, T lymphocytopenia, Multiple joint contractures, Micrognathia,... |
ORPHA:2959 |
| Acromesomelic Dysplasia 2A |
|
Short tibia, Short phalanx of finger, Flexion contracture, Aplasia/Hypoplasia involving the metac... |
OMIM:200700 |
| Satoyoshi Syndrome |
|
Alopecia, Alopecia universalis, Amenorrhea, Hypoplasia of the uterus |
OMIM:600705 |
| Rabson-Mendenhall Syndrome |
|
Hypothyroidism, Polydactyly, Precocious puberty, Premature graying of hair, Long penis, Hirsutism... |
ORPHA:769 |
| Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Infertility, Azoospermia, Hypertension, Congestive heart failure, Insu... |
OMIM:615703 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased serum testosterone level, Increased circulating cortisol level, Decreased circulating d... |
OMIM:610489 |
| Femoral-Facial Syndrome |
|
Aplasia/Hypoplasia of the tibia, Micrognathia, Coxa vara, Renal hypoplasia/aplasia, Vertebral seg... |
ORPHA:1988 |
| Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
| Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
| Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
| Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
| Extensor Tendons Of Finger Anomalies |
|
Camptodactyly of finger, Osteoporosis, Limitation of joint mobility |
ORPHA:3294 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Hypo... |
OMIM:308700 |
| Cervical Cancer |
|
Cervix cancer |
OMIM:603956 |
| Weismann-Netter Syndrome |
|
Abnormality of the humerus, Tibial bowing, Abnormal cortical bone morphology, Femoral bowing, Abn... |
ORPHA:3344 |
| Distal Osteosclerosis |
|
Diaphyseal sclerosis, Craniofacial osteosclerosis, Hyperostosis |
OMIM:126250 |
| Xq27.3Q28 Duplication Syndrome |
|
Sparse body hair, Hypogonadism, Decreased testicular size, Premature ovarian insufficiency, Failu... |
ORPHA:261483 |
| Preeclampsia |
|
Increased body mass index, Small for gestational age, Acute kidney injury, Abnormality of the kid... |
ORPHA:275555 |
| Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
| Caffey Disease |
|
Joint hypermobility, Bowing of the legs, Cortical irregularity, Subperiosteal bone formation, Cal... |
OMIM:114000 |
| 46,Xx Sex Reversal 1 |
|
Sex reversal, Bicornuate uterus, True hermaphroditism, Azoospermia, Hypospadias, Elevated circula... |
OMIM:400045 |
| Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s... |
OMIM:616030 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Calvarial osteosclerosis, Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Thi... |
OMIM:607634 |
| Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Primary amenorrhea, Decreased serum estradiol, Hypothalamic gonadotropin-releasing hormone defici... |
OMIM:618841 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue, Type II diabetes mellitus, Oligome... |
OMIM:604367 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Tapered finger, Short foot, Delayed speech and language development, Absent speech, Emotional lab... |
OMIM:309585 |
| Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Upper limb undergrowth, Short foot, Abnormal cortical bone morphology, Limitation of joint mobili... |
ORPHA:166277 |
| Immunodeficiency 12 |
|
Osteoporosis |
OMIM:615468 |
| Epiphyseal Dysplasia, Multiple, 5 |
|
Broad femoral neck, Genu valgum, Metaphyseal irregularity, Coxa vara, Short metacarpal, Short fem... |
OMIM:607078 |
| Spermatogenic Failure 44 |
|
Male infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:619044 |
| Spermatogenic Failure 16 |
|
Male infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:617187 |
| Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s... |
OMIM:614897 |
| 46,Xx Gonadal Dysgenesis |
|
Decreased fertility, Abnormality of secondary sexual hair, Ambiguous genitalia, Decreased serum e... |
ORPHA:243 |
| Melorheostosis |
|
Increased bone mineral density, Arthritis, Joint stiffness, Hyperostosis, Ectopic ossification in... |
ORPHA:2485 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Pancytopenia, Cutaneous anergy, Decreased helper T cell proportion, Splenomegaly |
OMIM:183350 |
| Immunodeficiency 62 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir... |
OMIM:618459 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Increased serum testosterone level, Slender long bone, Hydrocele testis, Eczema, Congenital adren... |
ORPHA:96181 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Irregular menstruation, Premature ovarian insufficiency, Sparse pubic hair, Increased circulating... |
OMIM:110100 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Pedal edema, Impotence, Psoriasiform dermatitis, Retrograde ejaculation, Weight loss, Acute kidne... |
ORPHA:49041 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
| Moyamoya Disease 1 |
|
Telangiectasia, Inflammatory arteriopathy |
OMIM:252350 |
| Ataxia-Telangiectasia |
|
Mucosal telangiectasiae, Abnormal testis morphology, Premature graying of hair, Aplasia/Hypoplasi... |
ORPHA:100 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Loss of gluteal subcutaneous adipose tissue, Decreased serum leptin, Polycystic ovaries, Decrease... |
ORPHA:435651 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus |
ORPHA:2578 |
| Ovarian Hyperstimulation Syndrome |
|
Hemorrhagic ovarian cyst, Increased serum testosterone level, Enlarged polycystic ovaries, Increa... |
ORPHA:64739 |
| Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
| Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Leukopenia, Anemia, Long thumb, Failure to thrive, Bone marrow hypocellul... |
OMIM:619151 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Scrotal hypospadias, Ambiguous genitalia, Decreased circulating dehydroepiandrosterone-sulfate co... |
OMIM:250790 |
| Woodhouse-Sakati Syndrome |
|
Abnormal T-wave, Hypothyroidism, Hyperinsulinemia, Abnormal spermatogenesis, Decreased response t... |
ORPHA:3464 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... |
ORPHA:171706 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Decreased serum leptin, Polycystic ovaries, Decreased adiponectin level, Lipodystrophy, Increased... |
ORPHA:79085 |
| Pyle Disease |
|
Thin bony cortex, Genu valgum, Hypoplastic frontal sinuses, Absent paranasal sinuses, Limited elb... |
OMIM:265900 |
| Leptin Receptor Deficiency |
|
Aggressive behavior, Decreased response to growth hormone stimulation test, Abnormal hypothalamus... |
OMIM:614963 |
| Cranio-Osteoarthropathy |
|
Abnormality of the knee, Arthritis, Abnormal cortical bone morphology, Clubbing of toes, Abnormal... |
ORPHA:1525 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Loss of gluteal subcutaneous adipose tissue, Abnormal labia majora morphology, Increased adipose ... |
ORPHA:435660 |
| Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Nephrolithiasis, Glucose intolerance, Hypoplasia of the uterus, Bicorn... |
OMIM:137920 |
| 46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... |
ORPHA:168558 |
| Immunodeficiency 76 |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Splenomegaly |
OMIM:619164 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... |
ORPHA:289548 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Male infertility, Immotile sperm |
OMIM:608653 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Metacarpal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone morphology, Thickened cort... |
OMIM:144750 |
| Lethal Recessive Chondrodysplasia |
|
Short long bone, Micrognathia, Flared elbow metaphyses, Generalized osteosclerosis, Limb undergro... |
ORPHA:1423 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancrea... |
OMIM:601820 |
| Ane Syndrome |
|
Alopecia, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, A... |
ORPHA:157954 |
| Immunodeficiency 15A |
|
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of memory B... |
OMIM:618204 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged polycystic ovarie... |
ORPHA:90301 |
| Galactosemia I |
|
Aminoaciduria, Hemolytic anemia, Premature ovarian insufficiency, Galactosuria, Failure to thrive... |
OMIM:230400 |
| Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Decreased circulating antibody level, Lymphopenia, ... |
ORPHA:169079 |
| Cortisone Reductase Deficiency 2 |
|
Obesity, Insulin resistance, Premature pubarche |
OMIM:614662 |
| Central Precocious Puberty |
|
Isosexual precocious puberty, Abnormality of secondary sexual hair, Premature thelarche, Obesity,... |
ORPHA:759 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Ambiguous genitalia, Flexion contracture, Decreased circulating dehydroepiandrosterone-sulfate co... |
ORPHA:95699 |
| Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Patellar hypoplasia, Patellar dislocation, Coxa vara, Patellar aplasia, Micrognathia, Flat capita... |
OMIM:147891 |
| Congenital Generalized Lipodystrophy |
|
Increased C-peptide level, Hepatic steatosis, Hypertrophic cardiomyopathy, Hepatomegaly, Hypercho... |
ORPHA:528 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Rickets, Increased bone mineral density, Hypophosphatemic rickets, Craniosynostosis |
OMIM:241520 |
| Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Irregular menstruation, Alopecia, Precocious puberty, Hyperthyroidism, Recurrent fractures, Abnor... |
ORPHA:457059 |
| Epiphyseal Dysplasia, Multiple, 7 |
|
Genu varum, Advanced ossification of carpal bones, Short femoral neck, Flat acetabular roof, Epip... |
OMIM:617719 |
| Type 2 Diabetes Mellitus |
|
Type II diabetes mellitus, Insulin resistance, Increased waist to hip ratio |
OMIM:125853 |
| Leptin Deficiency Or Dysfunction |
|
Hypogonadism, Decreased testicular size, Primary amenorrhea, Obesity, Micropenis |
OMIM:614962 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
T lymphocytopenia, Increased proportion of transitional B cells, Decreased circulating IgG2 level... |
OMIM:615513 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
| Familial Male-Limited Precocious Puberty |
|
Macroorchidism, Precocious puberty, Long penis, Oligospermia, Male infertility |
ORPHA:3000 |
| Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level |
OMIM:616873 |
| Frasier Syndrome |
|
Gonadoblastoma, Decreased serum estradiol, Ambiguous genitalia, male, Hypertension, Increased cir... |
ORPHA:347 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Recurrent sinusitis, Generalized lymphadenopathy, Hepatosplenomegaly, Hepatomegaly, Antinuclear a... |
OMIM:615559 |
| Osteoporosis, Juvenile |
|
Osteoporosis |
OMIM:259750 |
| Temple Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Flexion contracture, Precocious puberty, Short foot, ... |
OMIM:616222 |
| 46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome |
|
Increased size of the clitoris, Ambiguous genitalia, female, Abnormality of the ovary, Abnormalit... |
ORPHA:2975 |
| Familial Expansile Osteolysis |
|
Thin bony cortex, Pathologic fracture, Bowing of the long bones, Osteolysis |
OMIM:174810 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Bilateral cryptorchidism, Male infertility |
OMIM:261550 |
| Asherman Syndrome |
|
Decreased fertility in females, Secondary amenorrhea, Infertility, Abnormality of the menstrual c... |
ORPHA:137686 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... |
OMIM:212050 |
| Reticular Dysgenesis |
|
Leukopenia, Hypoplasia of the thymus, Lack of T cell function, Lymphopenia, Impaired T cell funct... |
OMIM:267500 |
| Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
| Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Decreased fertility, Hypogonadism, Abnormal testis morphology, Abnormal hair quantity, Low poster... |
ORPHA:2233 |
| 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 |
| Hypodontia-Dysplasia Of Nails Syndrome |
|
Polycystic ovaries |
ORPHA:2228 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Absent isohemagglutinin level, Neutropenia, Absent circulating B cell... |
OMIM:613501 |
| Fraser-Like Syndrome |
|
Ovarian cyst |
OMIM:229230 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Decreased testicular size, Diabetes mellitus, Cryptorchidism, Primary amenorrhea, Hypogonadotropi... |
OMIM:610628 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Broad foot, Ambiguous genitalia, Vesicovaginal fistula, Humeroradial synostosis, Adrenal insuffic... |
OMIM:201750 |
| Osteogenesis Imperfecta, Type Xxii |
|
Thin bony cortex, Recurrent fractures, Pseudoarthrosis, Slender long bone, Decreased circulating ... |
OMIM:619795 |
| Deafness-Infertility Syndrome |
|
Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motility, Male infertilit... |
OMIM:611102 |
| Lead Poisoning |
|
Decreased female libido, Decreased circulating osteocalcin level, Oligospermia, Cranial hyperosto... |
ORPHA:330015 |
| Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Joint hyperflexibility, Osteoporosis, Short distal phalanx of finger, Brachydactyly |
ORPHA:2787 |
| Otopalatodigital Syndrome Type 1 |
|
Hypoplastic frontal sinuses, Abnormality of the tarsal bones, Increased bone mineral density, Syn... |
ORPHA:90650 |
| 46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Gonadal dysgenesis, Hypergonadotropic hypogonadism, Primary amenorrhea |
OMIM:607080 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Hypoplastic labia majora, Limited elbow extension, Short palm, Hypoplasia of the uterus, Frontal ... |
OMIM:618419 |
| Spondyloepimetaphyseal Dysplasia With Hypotrichosis |
|
Genu varum, Rhizomelia, Coxa vara, Decreased hip abduction, Short femoral neck, Flared iliac wing... |
OMIM:183849 |
| Young Syndrome |
|
Decreased fertility, Obstructive azoospermia |
ORPHA:3471 |
| Bardet-Biedl Syndrome 4 |
|
Hypogonadism, External genital hypoplasia, Renal cyst, Cryptorchidism, Obesity |
OMIM:615982 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Spermatocele, Male infertility, Obstructive azoospermia |
OMIM:301060 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Decreased fertility, Decreased circulating progesterone, Streak ovary, Decreased serum estradiol,... |
ORPHA:572333 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Lipodystrophy, Insulin resistance, Lipoatrophy, Insulin-resistant diabetes mellitus |
OMIM:613877 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Hepatic steatosis, Hypoglycemia, Hepatomegaly... |
ORPHA:264580 |
| Woodhouse-Sakati Syndrome |
|
Abnormal T-wave, Alopecia, Elevated circulating thyroid-stimulating hormone concentration, Decrea... |
OMIM:241080 |
| Epiphyseal Dysplasia, Multiple, 1 |
|
Short phalanx of finger, Broad femoral neck, Genu valgum, Generalized joint laxity, Avascular nec... |
OMIM:132400 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Decreased circulating follicle stimulating hormone concentration, Hypothalamic gonadotropin-relea... |
OMIM:308750 |
| Flynn-Aird Syndrome |
|
Increased bone density with cystic changes, Increased bone mineral density, Joint stiffness, Oste... |
OMIM:136300 |
| Angioosteohypotrophic Syndrome |
|
Thin bony cortex, Upper limb undergrowth, Abnormal trabecular bone morphology, Abnormal foot morp... |
ORPHA:75508 |
| Metaphyseal Chondrodysplasia, Spahr Type |
|
Genu varum, Progressive leg bowing, Short lower limbs, Hip dysplasia, Metaphyseal chondrodysplasi... |
ORPHA:2501 |
| Silver-Russell Syndrome |
|
Precocious puberty, Abnormality of the calcaneus, Micrognathia, Cachexia, Abnormality of the urin... |
ORPHA:813 |
| Acrodysostosis |
|
Irregular menstruation, Short toe, Abnormality of female external genitalia, Hypogonadism, Short ... |
ORPHA:950 |
| 48,Xxxy Syndrome |
|
Coxa valga, Renal dysplasia, Hip dislocation, Elbow dislocation, Talipes equinovarus, Abnormal de... |
ORPHA:96263 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ... |
ORPHA:3329 |
| Fanconi Anemia |
|
Abnormal testis morphology, Abnormal cardiac septum morphology, Toe syndactyly, Micrognathia, Hip... |
ORPHA:84 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Secondary amenorrhea, Oligomenorrhea, Maternal diabetes, Insulin resistance, Abnormality of skele... |
ORPHA:79083 |
| Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Vaginal fistula |
ORPHA:2597 |
| Slc35A2-Cdg |
|
Camptodactyly of finger, Short tibia, Hip subluxation, Precocious puberty, Coxa valga, Inability ... |
ORPHA:356961 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating total IgM, Absent circulating B cells, Decreased circulating IgA level, Aga... |
OMIM:619707 |
| Paget Disease Of Bone 2, Early-Onset |
|
Increased susceptibility to fractures, Bowing of the long bones, Short femur, Femoral bowing, Ost... |
OMIM:602080 |
| 48,Xxyy Syndrome |
|
Elbow dislocation, Abnormal shoulder morphology, Abnormal dental enamel morphology, Hip dysplasia... |
ORPHA:10 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Abnormal T cell morphology, Decreased circulating total IgM, Absent circulating B cells, Decrease... |
OMIM:613500 |
| Panhypophysitis |
|
Gonadotropin deficiency, Impotence, Decreased female libido, Decreased circulating cortisol level... |
ORPHA:95513 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Precocious puberty, Short foot, Small hand, Impaired social interactions, Delayed speech and lang... |
ORPHA:254531 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Decreased fertility, Sparse body hair, Hypogonadism, Decreased testicular size, Type II diabetes ... |
ORPHA:2234 |
| Brachyolmia Type 1, Hobaek Type |
|
Short femoral neck, Short long bone, Flat acetabular roof, Sclerotic foci of metaphyses of the el... |
OMIM:271530 |
| Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
|
Osteoporosis, Delayed puberty, Osteopenia |
OMIM:615271 |
| Aromatase Deficiency |
|
Primary amenorrhea, Enlarged polycystic ovaries, Ambiguous genitalia, female, Type II diabetes me... |
ORPHA:91 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Glomerulopathy, Secondary amenorrhea, Abnormality of skeletal muscle fiber size, Insulin resistan... |
ORPHA:2348 |
| Bardet-Biedl Syndrome 16 |
|
Polydactyly, Recurrent respiratory infections, Hypogonadism, Renal dysplasia, Stage 5 chronic kid... |
OMIM:615993 |
| Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Insulin resistance, Truncal obesity |
ORPHA:140941 |
| Adenohypophysitis |
|
Gonadotropin deficiency, Impotence, Decreased female libido, Decreased circulating cortisol level... |
ORPHA:95512 |
| Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism |
|
Hypothyroidism, Decreased response to growth hormone stimulation test, Panhypopituitarism |
OMIM:300123 |
| Premature Ovarian Failure 5 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ovary, Reduced antral fo... |
OMIM:611548 |
| Bangstad Syndrome |
|
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Deviation of finger, Increased c... |
ORPHA:1227 |
| Mehmo Syndrome |
|
Gait ataxia, Aggressive behavior, Decreased response to growth hormone stimulation test, Inabilit... |
OMIM:300148 |
| Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Decreased testicular size, Type I diabetes mellitus, Breast aplasia, Eunuchoid habitus, Sparse pu... |
ORPHA:3044 |
| Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Decreased testicular size, Infertility, Cryptorchidism, Primary amenorrhea, Hypogonadotropic hypo... |
OMIM:146110 |
| Acquired Partial Lipodystrophy |
|
Lipoatrophy, Insulin resistance |
ORPHA:79087 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Gonadoblastoma, Abnormality of the uterus, Hypospadias, Cryptorchidism, Streak ovary, Obesity, Ab... |
OMIM:194072 |
| Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Polycystic ovaries, Hypergonadotropic hypogonadism, Secondary amenorrhea |
OMIM:268020 |
| Cystic Echinococcosis |
|
Abnormal subpleural morphology, Abnormality of the testis size, Abnormality of the peritoneum, Mu... |
ORPHA:400 |
| Telangiectasia, Hereditary Benign |
|
Diffuse telangiectasia |
OMIM:187260 |
| 46,Xy Sex Reversal 4 |
|
Hydronephrosis, Distal symphalangism, Sex reversal, Renal dysplasia, Micrognathia, Hypoplastic la... |
OMIM:154230 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Myocardial infarction, Obesity, Diabetes mellitus, Hypertension |
OMIM:608320 |
| X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Aplasia/Hypoplasia of the testes, Hypoplasia of penis, Obesity, Cryptorchidism |
ORPHA:3055 |
| Pituitary Adenoma 1, Multiple Types |
|
Irregular menstruation, Increased circulating prolactin concentration, Pituitary adenoma, Prolact... |
OMIM:102200 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism, Hyperglycemia |
OMIM:307500 |
| Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Genu varum, Delayed ossification of carpal bones, Bowing of the legs, Irregular acetabular roof, ... |
OMIM:617974 |
| Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Male hypogonadism, Azoospermia |
OMIM:241000 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Insulin resistance, Lipodystrophy, Diabetes mellitus, Genera... |
OMIM:612526 |
| Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Thin bony cortex, Short 4th metacarpal, Rhizomelia, Short 5th metacarpal, Femoral bowing, Broad t... |
OMIM:619638 |
| Schaaf-Yang Syndrome |
|
Flexion contracture, Tapered finger, Inability to walk, Camptodactyly, Arthrogryposis multiplex c... |
OMIM:615547 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatocellular carcinoma, Elevated circulating creatine kinase concentration, Hepatomegaly, Hyper... |
ORPHA:79240 |
| Bardet-Biedl Syndrome 2 |
|
Hypogonadism, External genital hypoplasia, Dilated cardiomyopathy, Diabetes mellitus, Obesity |
OMIM:615981 |
| Insulin Autoimmune Syndrome |
|
Weight loss, Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive... |
ORPHA:411593 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Absen... |
OMIM:619846 |
| Caffey Disease |
|
Increased circulating antibody level, Cortical thickening of long bone diaphyses, Cortical irregu... |
ORPHA:1310 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Aplasia of the uterus, Hypoparathyroidism, Primary amenorrhea, Septate vagina, Aplasia of the vag... |
OMIM:146255 |
| Obesity |
|
Obesity, Increased waist to hip ratio |
OMIM:601665 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Central hypothyroidism, Precocious puberty, Small pituitary gland, Primary amenorrhea, Abdominal ... |
ORPHA:398079 |
| Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Obesity, Gait disturbance, Finger joint hypermobility |
ORPHA:436141 |
| Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
| Donohue Syndrome |
|
Hyperinsulinemia, Precocious puberty, Long penis, Long foot, Postprandial hyperglycemia, Severe f... |
OMIM:246200 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Lipodystrophy, Insulin resistance, Abdominal obesity, Diabetes mellitus |
OMIM:615980 |
| Urban-Rogers-Meyer Syndrome |
|
Camptodactyly of finger, Recurrent fractures, Hypogonadism, Short foot, Toe syndactyly, Micrognat... |
ORPHA:3409 |
| Autosomal Recessive Spastic Paraplegia Type 26 |
|
Premature ovarian insufficiency, Pes cavus, Skeletal muscle atrophy, Scoliosis, Decreased serum t... |
ORPHA:101006 |
| Denys-Drash Syndrome |
|
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Nephroblastoma, Wide ante... |
OMIM:194080 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Pes cavus, Abdominal obesity, Polymicrogyria, Gait ataxia, Aggressive behavior, Delayed puberty, ... |
OMIM:300354 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Trapezoidal distal femoral condyles, Genu valgum, Metaphyseal irreg... |
OMIM:307800 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Aplasia/Hypoplasia of the fibula, Abnormality of the upper limb, Finger syndactyly, Clinodactyly ... |
ORPHA:2141 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Short phalanx of finger, Atrioventricular canal defect, Absent thumb, Coxa valga, Patellar disloc... |
OMIM:274000 |
| Immunodeficiency 75 With Lymphoproliferation |
|
Lymphadenopathy, Follicular hyperplasia, Decreased proportion of class-switched memory B cells, H... |
OMIM:619126 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Decreased fertility, Recurrent fractures, Absence of secondary sex characteristics, Anterior hypo... |
ORPHA:2235 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Knee flexion contracture, Flexion contracture, Coxa valga, Joint contracture of the hand, Small f... |
OMIM:214150 |
| Vaginal Atresia |
|
Imperforate hymen, Uterus didelphys, Bicornuate uterus, Transverse vaginal septum, Abnormality of... |
ORPHA:65681 |
| 46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
|
Urogenital sinus anomaly, Decreased fertility, Ambiguous genitalia, Perineal hypospadias, Bifid s... |
ORPHA:753 |
| Luscan-Lumish Syndrome |
|
Irregular menstruation, Aggressive behavior, Advanced ossification of carpal bones, Shyness, Dela... |
OMIM:616831 |
| Werner Syndrome |
|
Abnormal testis morphology, Premature graying of hair, Increased bone mineral density, White fore... |
ORPHA:902 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Flexion contracture, Micrognathia, Pulmonary hypoplasia, Short femur, Pleural effusion, Hypertrop... |
OMIM:616897 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperinsulinemia, Cognitive impairment, Reduced intraabdominal adipose tissue, Reduced subcutaneo... |
ORPHA:363400 |
| Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Sparse scalp hair, Decreased response to growth hormone stimulation test, Renal malrotation, Clin... |
OMIM:615866 |
| Metatropic Dysplasia |
|
Camptodactyly of finger, Abnormal enchondral ossification, Coarse metaphyseal trabecularization, ... |
ORPHA:2635 |
| Caudal Duplication Anomaly |
|
Uterus didelphys |
OMIM:607864 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the fibula, Finger syndactyly, Ventricular septal defect, Shawl scrotum, Sh... |
ORPHA:2256 |
| Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Absent vas deferens, Male infertility, Azoospermia |
OMIM:300985 |
| Vas Deferens, Congenital Bilateral Aplasia Of |
|
Absent vas deferens, Male infertility, Azoospermia |
OMIM:277180 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue, Type II diabetes mel... |
ORPHA:71529 |
| Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Joint stiffness, Obesity |
ORPHA:1078 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Hip osteoarthritis, Generalized osteosclerosis, Abnormal pelvic girdle bone ... |
OMIM:166600 |
| Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Osteoporosis, Osteopenia, Hypogonadism |
OMIM:615270 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Genu valgum, Upper limb undergrowth, Limited elbow movement, Short femoral neck, Short long bone,... |
ORPHA:94068 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Increased circulating cortisol level, Decreased circulating ACTH level, Hypertension, Pigmented m... |
OMIM:610475 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia, Precocious puberty, Short foot, Small hand, Small for gestational age, Dela... |
ORPHA:96184 |
| Immunodeficiency 68 |
|
Lymphadenitis, Abnormal natural killer cell count, T lymphocytopenia, B lymphocytopenia, Abscess |
OMIM:612260 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Kyphosis, Micrognathia, Telangiectasia of the skin, Insulin resistance, Male hypogonadism, Diabet... |
OMIM:615381 |
| Xp22.13P22.2 Duplication Syndrome |
|
Macroorchidism, 2-3 toe syndactyly, High anterior hairline, Tapered finger, Small hand, Congenita... |
ORPHA:284180 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Central hypothyroidism, Pedal edema, Precocious puberty, Perisylvian polymicrogyria, Decreased ci... |
ORPHA:98793 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hyperactivity, Hypogonadism, Small for gestational age, Micrognathia, Clinodactyly, Clinodactyly ... |
ORPHA:73272 |
| Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatocellular carcinoma, Elevated circulating creatine kinase concentration, Hepatic steatosis, ... |
ORPHA:370 |
| 46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
