Premature Ovarian Failure 7 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612964 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Sparse axillary hair, Sparse pubic hair, Decreased circulating dih... |
OMIM:228300 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Sparse axillary hair, Sparse pubic hair, Cryptorchidism, Primary a... |
OMIM:146110 |
Premature Ovarian Failure 6 |
|
Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi... |
OMIM:612310 |
46,Xy Sex Reversal 1 |
|
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... |
OMIM:400044 |
Ovarian Dysgenesis 4 |
|
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Primary ameno... |
OMIM:616185 |
Ovarian Dysgenesis 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:619665 |
Androgen Insensitivity Syndrome |
|
Absent facial hair, Elevated circulating luteinizing hormone level, Sparse axillary hair, Sparse ... |
OMIM:300068 |
Ovarian Dysgenesis 7 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... |
OMIM:618117 |
Ovarian Dysgenesis 10 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:619834 |
Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... |
OMIM:619203 |
Premature Ovarian Failure 13 |
|
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... |
OMIM:617442 |
Premature Ovarian Failure 21 |
|
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... |
OMIM:620311 |
46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ... |
OMIM:273250 |
Hypogonadism-Cataract Syndrome |
|
Male hypogonadism, Elevated circulating follicle stimulating hormone level, Hypogonadism, Inferti... |
OMIM:240950 |
Premature Ovarian Failure 15 |
|
Irregular menstruation, Secondary amenorrhea, Elevated circulating follicle stimulating hormone l... |
OMIM:618096 |
Premature Ovarian Failure 8 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:615723 |
Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612885 |
Premature Ovarian Failure 16 |
|
Elevated circulating follicle stimulating hormone level, Premature ovarian insufficiency, Decreas... |
OMIM:618723 |
Hyperprolactinemia |
|
Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea, Female infertility |
OMIM:615555 |
Premature Ovarian Failure 17 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Decreased inhibi... |
OMIM:619146 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Absent pubic hair,... |
ORPHA:90793 |
Ovarian Dysgenesis 5 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... |
OMIM:617690 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... |
ORPHA:488191 |
Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... |
OMIM:614129 |
Ovarian Dysgenesis 8 |
|
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasti... |
OMIM:618187 |
Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... |
OMIM:615724 |
Premature Ovarian Failure 2A |
|
Elevated circulating luteinizing hormone level, Premature ovarian insufficiency, Elevated circula... |
OMIM:300511 |
Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follic... |
OMIM:619938 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
Premature Ovarian Failure 11 |
|
Elevated circulating follicle stimulating hormone level, Oligomenorrhea, Secondary amenorrhea |
OMIM:616946 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... |
OMIM:619949 |
Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Lack of oocyte pronucleus formation, Female infertility |
OMIM:617996 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Ovarian Dysgenesis 3 |
|
Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ... |
OMIM:614324 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Obesity, Primary ameno... |
OMIM:610628 |
Premature Ovarian Failure 14 |
|
Elevated circulating luteinizing hormone level, Decreased serum estradiol, Elevated circulating f... |
OMIM:618014 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Gonadotropin deficiency, Decreased serum estradiol, Male hypogonadism, Hypogonadotropic hypogonad... |
ORPHA:52901 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Dysmenorrhea, Decreased serum estradiol, Decreased circulating androgen... |
ORPHA:90796 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty |
OMIM:300604 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... |
OMIM:301077 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Ovari... |
ORPHA:251510 |
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Primary amenorrhea, Small pituitary gland... |
OMIM:612702 |
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia |
|
Hyposmia, Hypogonadotropic hypogonadism |
OMIM:615266 |
Spermatogenic Failure 14 |
|
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... |
OMIM:615842 |
Ring Chromosome Y Syndrome |
|
Male infertility, Bifid scrotum, Ambiguous genitalia, Streak ovary, Unilateral cryptorchidism, Hy... |
ORPHA:261529 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Primary amenorrhea, Decreased testicular ... |
OMIM:614858 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Primary amenorrhea, Micropenis, Decreased... |
OMIM:614841 |
Ovarian Dysgenesis 1 |
|
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea |
OMIM:233300 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Cryptorchidism, Anosmia, Primary amenorrhea, Decreased circulating luteinizing hormone level, Dec... |
OMIM:614897 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Primary amenorrhea, Absence of pubertal d... |
OMIM:614837 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Cryptorchidism, Anosmia, Pri... |
OMIM:616030 |
Asherman Syndrome |
|
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... |
ORPHA:137686 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of secondary se... |
ORPHA:2410 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... |
OMIM:229070 |
Premature Ovarian Failure 1 |
|
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation |
OMIM:311360 |
X-Linked Intellectual Disability, Cilliers Type |
|
Hypergonadotropic hypogonadism, Prominent nasal bridge, Hypospadias, Shyness, Cryptorchidism, Inc... |
ORPHA:163971 |
X-Linked Intellectual Disability, Van Esch Type |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... |
ORPHA:163976 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Anosmia, Primary amenorrh... |
OMIM:618841 |
Functioning Gonadotropic Adenoma |
|
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... |
ORPHA:91348 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... |
ORPHA:399805 |
Endometriosis, Susceptibility To, 1 |
|
Decreased fertility, Dysmenorrhea, Endometriosis |
OMIM:131200 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Cryptorchidism, Anosmia, Primary amenorrhea, Small pituitary gland, Micropenis, Decreased testicu... |
OMIM:614880 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Hyposmia, Azoospermia, Focal T2 hyperintense thalamic lesion, Hypergonadotropic hypogonadism |
OMIM:613724 |
Leydig Cell Hypoplasia |
|
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... |
ORPHA:755 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Choanal atresia, Cryptorchidism, Anosmia, Primary amenorrhea, Dela... |
OMIM:147950 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Increased circulating ren... |
ORPHA:168558 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Wide nose, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test,... |
OMIM:300845 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Primary amenorrhea, Hyposmia, Micropenis |
OMIM:244200 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, In... |
ORPHA:289548 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... |
ORPHA:168563 |
Cortisone Reductase Deficiency 1 |
|
Alopecia, Precocious puberty, Obesity, Infertility, Oligomenorrhea, Hirsutism |
OMIM:604931 |
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Anosmia, Primary amenorrhea, Decreased circulating luteinizing hor... |
OMIM:614839 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Small scrotum, Hypogon... |
OMIM:308700 |
Precocious Puberty, Central, 1 |
|
Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti... |
OMIM:176400 |
Familial Hyperprolactinemia |
|
Female hypogonadism, Hemorrhagic ovarian cyst, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea |
ORPHA:397685 |
46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... |
OMIM:612965 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... |
ORPHA:99429 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Small for gestational age, Cryptorchidism, Increased circulating gonadotropin level, Bulbous nose... |
OMIM:300869 |
Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Primary ameno... |
OMIM:615300 |
Leydig Cell Hypoplasia, Type I |
|
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism |
OMIM:238320 |
Kallmann Syndrome With Spastic Paraplegia |
|
Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypog... |
OMIM:308750 |
Kallmann Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Hypogon... |
ORPHA:478 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Eunuchoid habitus, Narrow nasal base, Wide nose, Cleft ala nasi, Elevated circulating luteinizing... |
ORPHA:3044 |
Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Anosmia, Bifid nose, Hyposmia, Micropenis, Decreased testicular size |
OMIM:614838 |
46,Xx Gonadal Dysgenesis |
|
Streak ovary, Premature ovarian insufficiency, Sparse pubic hair, Increased circulating gonadotro... |
ORPHA:243 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Primary amenorrhe... |
OMIM:614840 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Aplasia/Hypoplasia involving the nose, Hypogonadotropic hypogonadism, Choanal atresia, Abnormalit... |
ORPHA:1135 |
Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Anosmia, Decreased circulating luteinizing hormone level, Decrease... |
OMIM:614842 |
46,Xx Sex Reversal 1 |
|
True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, Ovotestis, Sex... |
OMIM:400045 |
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia |
|
Anosmia, Hypogonadism, Absence of pubertal development |
OMIM:615267 |
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Cryptorchidism, Anosmia, Hypogonadotropic hypogonadism |
OMIM:612370 |
Pituicytoma |
|
Hypopituitarism, Decreased female libido, Hypogonadotropic hypogonadism, Decreased response to gr... |
ORPHA:251623 |
Acromesomelic Dysplasia 3 |
|
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe... |
OMIM:609441 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... |
ORPHA:90797 |
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Anosmia, Hypogonadism, Delayed puberty |
OMIM:615270 |
Bardet-Biedl Syndrome 19 |
|
Hyposmia, Hypogonadism, Obesity, External genital hypoplasia |
OMIM:615996 |
Perrault Syndrome 1 |
|
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea |
OMIM:233400 |
Aarskog-Scott Syndrome |
|
Anteverted nares, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Crypt... |
OMIM:305400 |
Gordon Holmes Syndrome |
|
Hypogonadotropic hypogonadism, Secondary amenorrhea, Absence of pubertal development, Primary ame... |
OMIM:212840 |
Frasier Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Male pseu... |
ORPHA:347 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... |
ORPHA:572333 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Depressed nasal bridge, Anosmia, Hypogonadism, Short nose, Short nasal septum |
OMIM:302950 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... |
ORPHA:399808 |
49,Xxxyy Syndrome |
|
Eunuchoid habitus, External genital hypoplasia, Abnormality of the testis size, Increased circula... |
ORPHA:261534 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Decreased response to growth hormone stimulation test, Precocious puberty, Pituitary adenoma, Adr... |
ORPHA:91354 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... |
ORPHA:95699 |
Leptin Deficiency Or Dysfunction |
|
Decreased serum leptin, Recurrent upper respiratory tract infections, Obesity, Primary amenorrhea... |
OMIM:614962 |
Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Obesity, Oligomenorrhea, Hirsutism, Amenorrhea |
OMIM:184700 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Hypogonadism, Decreased testicular size |
ORPHA:1875 |
Johnson Neuroectodermal Syndrome |
|
Absent eyebrow, Alopecia, Choanal atresia, Absent eyelashes, Bulbous nose, Anosmia, Hypohidrosis,... |
ORPHA:2316 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Depressed nasal bridge, Female infertility, Highly arched eyebro... |
OMIM:110100 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Central hypothyroidism, Abnormality... |
OMIM:616113 |
Myotonic Dystrophy 2 |
|
Frontal balding, Oligozoospermia, Hypogonadism, Type II diabetes mellitus, Elevated circulating f... |
OMIM:602668 |
Invasive Mole |
|
Menometrorrhagia |
ORPHA:99925 |
Post-Traumatic Pituitary Deficiency |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c... |
ORPHA:95619 |
Ovarian Dysgenesis 2 |
|
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea... |
OMIM:300510 |
47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... |
ORPHA:8 |
Gorlin Syndrome |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Wide nasal bridge, Abnormality of the sense of smell |
ORPHA:377 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Hypogonadotropic hypogonadism, Synophrys, Anosmia, Abnormal n... |
ORPHA:1295 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Sparse facial hair, Decreased serum estradiol, Aplasia of the ovary, Aplasia/hypoplasia of the ut... |
ORPHA:2232 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Precocious puberty, Hypergonadotropic hypogonadism, Wide nasal bridge, Polycystic ovaries |
ORPHA:2229 |
Estrogen Resistance Syndrome |
|
Abnormality of the pubic hair, Enlarged polycystic ovaries, Increased circulating gonadotropin le... |
ORPHA:785 |
Huntington Disease |
|
Abnormality of the sense of smell, Weight loss, Decreased body mass index, Abnormal libido |
ORPHA:399 |
Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism... |
ORPHA:91 |
Perrault Syndrome 6 |
|
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim... |
OMIM:617565 |
49,Xyyyy Syndrome |
|
Eunuchoid habitus, External genital hypoplasia, Abnormality of the testis size, Increased circula... |
ORPHA:99330 |
46,Xy Sex Reversal 5 |
|
Sex reversal, Elevated circulating follicle stimulating hormone level |
OMIM:613080 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Abnormal hair morphology, Long penis, Oligozoospermia, Macr... |
ORPHA:3000 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Abnormal social behavior |
ORPHA:436151 |
Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Chronic rhinitis, Female infertility, Goiter |
OMIM:617577 |
Pituitary Gigantism |
|
Elevated circulating growth hormone concentration, Amenorrhea, Hyperhidrosis, Increased circulati... |
ORPHA:99725 |
Young-Onset Parkinson Disease |
|
Hyposmia, Female sexual dysfunction, Male sexual dysfunction, Impaired social interactions |
ORPHA:2828 |
Pituitary Adenoma 1, Multiple Types |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc... |
OMIM:102200 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Small for gestational age, Elevated circulating luteinizing hormone level, Underdeveloped nasal a... |
OMIM:618419 |
Prolactinoma |
|
Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed puberty, ... |
ORPHA:2965 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Hirsutism, Secondary amenorrhea, Premature pubarche |
OMIM:612847 |
Bardet-Biedl Syndrome 17 |
|
Anosmia, Obesity, Hypogonadism, Hyposmia, Micropenis |
OMIM:615994 |
Placental Site Trophoblastic Tumor |
|
Metrorrhagia, Amenorrhea |
ORPHA:99928 |
Premature Ovarian Failure 5 |
|
Streak ovary, Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea, Hypoplas... |
OMIM:611548 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ovaries, Insulin-resista... |
ORPHA:280356 |
Meningioma |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th... |
ORPHA:2495 |
Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Dyspareunia, Partial vaginal septum, Metrorrhagia, Dysmenorrhea, Abnormal uterine cervix morpholo... |
ORPHA:3411 |
Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... |
ORPHA:91347 |
Septo-Optic Dysplasia Spectrum |
|
Hypoplasia of penis, Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchidism, Anosmia, O... |
ORPHA:3157 |
Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Dec... |
ORPHA:983 |
Prolactin Deficiency, Isolated |
|
Irregular menstruation, Infertility, Reduced circulating prolactin concentration |
OMIM:264110 |
Hydrolethalus |
|
Cryptorchidism, Agenesis of corpus callosum, Abnormal fallopian tube morphology, Abnormality of t... |
ORPHA:2189 |
Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
Ovarian Fibrothecoma |
|
Ovarian fibroma, Metrorrhagia, Abnormal circulating hormone concentration, Abnormal endometrium m... |
ORPHA:314478 |
Müllerian Aplasia And Hyperandrogenism |
|
Thick eyebrow, Frontal balding, Synophrys, Obesity, Primary amenorrhea, Hypoplasia of the uterus,... |
ORPHA:247768 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... |
ORPHA:2235 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature thelarche, Ambiguous genitalia, female, Premature... |
ORPHA:90795 |
Luscan-Lumish Syndrome |
|
Shyness, Long nose, Irregular menstruation, Obesity, Polycystic ovaries, High anterior hairline, ... |
OMIM:616831 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Failure to thrive, Premature ovarian insufficiency, Female infertility |
OMIM:619518 |
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
|
Hyposmia, Delayed puberty |
OMIM:615271 |
Ovarian Dysgenesis 6 |
|
Absence of pubertal development, Hypergonadotropic hypogonadism, Primary amenorrhea, Hypoplasia o... |
OMIM:618078 |
Gray Platelet Syndrome |
|
Epistaxis, Abnormality of the menstrual cycle |
ORPHA:721 |
Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Small for gestational age, Hypospadias, Vaginal neoplasm, Decrea... |
ORPHA:1916 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
Kleine-Levin Syndrome |
|
Decreased libido, Parosmia, Hyperhidrosis |
ORPHA:33543 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Male hypogonadism, Micropenis, Hypogonadotropic hypogonadism, Depressed nasal bridge, Cryptorchid... |
ORPHA:432 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Small scrotum, External genital hypoplasia, Xerostomia, Clitoral hypoplasia, Premature adrenarche... |
ORPHA:398079 |
Leber Congenital Amaurosis 10 |
|
Hyposmia |
OMIM:611755 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... |
OMIM:619326 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Hirsutism, Amenorrhea |
ORPHA:2795 |
Satoyoshi Syndrome |
|
Nephrogenic diabetes insipidus, Abnormal hair morphology, Hypoplasia of the uterus, Sparse or abs... |
ORPHA:3130 |
Precocious Puberty, Male-Limited |
|
Decreased testicular size, Precocious puberty in males |
OMIM:176410 |
Hemochromatosis, Type 2A |
|
Azoospermia, Hypogonadotropic hypogonadism, Infertility, Amenorrhea |
OMIM:602390 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Wide nose, Maturity-onset diabetes of the young, Precocious puberty, Obesity, Impaired social int... |
ORPHA:254531 |
Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:608996 |
Isolated Splenogonadal Fusion |
|
Abnormal penis morphology, Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circula... |
ORPHA:457083 |
Temple Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... |
ORPHA:254516 |
Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... |
ORPHA:91351 |
Perrault Syndrome 2 |
|
Streak ovary, Amenorrhea |
OMIM:614926 |
Chromosome Xp11.23-P11.22 Duplication Syndrome |
|
Medial flaring of the eyebrow, Prominent nasal bridge, Underdeveloped nasal alae, Precocious pube... |
OMIM:300801 |
Body Mass Index Quantitative Trait Locus 19 |
|
Anosmia, Hyperinsulinemia, Obesity, Increased serum leptin, Hyposmia |
OMIM:617885 |
Methemoglobinemia And Ambiguous Genitalia |
|
Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ... |
OMIM:250790 |
Temple Syndrome |
|
Wide nose, Small for gestational age, Anteverted nares, Maturity-onset diabetes of the young, Dep... |
OMIM:616222 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... |
ORPHA:2975 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
Congenital Generalized Lipodystrophy |
|
Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in females, Hyperinsuline... |
ORPHA:528 |
Adrenal Hypoplasia, Congenital |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... |
OMIM:300200 |
Polyembryoma |
|
Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Abnormality of the... |
ORPHA:180229 |
8P11.2 Deletion Syndrome |
|
Hypoplasia of penis, Hypogonadotropic hypogonadism, Depressed nasal bridge, Cryptorchidism, Anosm... |
ORPHA:251066 |
Gangliocytoma |
|
Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent... |
ORPHA:251937 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
ORPHA:98754 |
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Male pseudohermaphroditism, Infertility, Ambiguous... |
ORPHA:752 |
Bosma Arhinia Microphthalmia Syndrome |
|
Hypogonadotropic hypogonadism, Choanal atresia, Hypospadias, Cryptorchidism, Synophrys, Anosmia, ... |
OMIM:603457 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Abnormal social behavior, Depressed nasal bridge, Obesity, Thick eyebrow |
ORPHA:444002 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
ORPHA:98793 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Hypoplasia of penis, External genital hypoplasia, Cryptorchidism, Single naris, Anosmia, Absent n... |
ORPHA:2250 |
Frasier Syndrome |
|
Gonadal dysgenesis, Ovarian gonadoblastoma, Male pseudohermaphroditism, Primary amenorrhea |
OMIM:136680 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
ORPHA:177904 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Hypogonadotropic hypogonadism, Partial anosmia, Total anosmia, Bilateral cryptorchidism, Delayed ... |
ORPHA:2326 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
ORPHA:177901 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Male pseudohermaphroditism, Adrenogenital syndrome, Primary amenorrhea, Ambi... |
OMIM:202110 |
Pituitary Apoplexy |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... |
ORPHA:95613 |
Adenohypophysitis |
|
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... |
ORPHA:95512 |
Prader-Willi Syndrome |
|
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... |
ORPHA:739 |
Panhypophysitis |
|
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... |
ORPHA:95513 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Anosmia, Delayed puberty, Micropenis |
OMIM:619718 |
X-Linked Acrogigantism |
|
Increased body mass index, Decreased thyroid-stimulating hormone level, Enlarged pituitary gland,... |
ORPHA:300373 |
Waardenburg Syndrome, Type 4C |
|
White eyelashes, White eyebrow, Cryptorchidism, Anosmia, Premature graying of hair, Lacrimal glan... |
OMIM:613266 |
8Q21.11 Microdeletion Syndrome |
|
Wide nose, Hypoplasia of penis, Underdeveloped nasal alae, Cryptorchidism, Abnormality of the sen... |
ORPHA:284160 |
Aromatase Deficiency |
|
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism |
OMIM:613546 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... |
ORPHA:90794 |
Hemochromatosis, Type 3 |
|
Impotence, Hypogonadotropic hypogonadism, Amenorrhea |
OMIM:604250 |
48,Xxxy Syndrome |
|
Hypoplasia of penis, Small scrotum, Cryptorchidism, Depressed nasal ridge, Obesity, Azoospermia, ... |
ORPHA:96263 |
Peritoneal Cystic Mesothelioma |
|
Menorrhagia, Dyspareunia, Metrorrhagia, Weight loss |
ORPHA:168816 |
Hidrotic Ectodermal Dysplasia, Halal Type |
|
Sparse scalp hair, Absent eyebrow, Supernumerary nipple, Absent eyelashes, Irregular menstruation... |
ORPHA:1809 |
Mccune-Albright Syndrome |
|
Hyperplasia of the Leydig cells, Hyperthyroidism, Primary hypercortisolism, Elevated circulating ... |
ORPHA:562 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Ambiguous genitalia, female, Increased circulating renin le... |
ORPHA:90791 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Wide nose, Small for gestational age, Anteverted nares, Maturity-onset diabetes of the young, Dep... |
ORPHA:96184 |
Moebius Syndrome |
|
Breast aplasia, Hypogonadotropic hypogonadism, Abnormality of the sense of smell |
ORPHA:570 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Small scrotum, External genital hypoplasia, Xerostomia, Increased body weight, Clitoral hypoplasi... |
ORPHA:398069 |
Solitary Median Maxillary Central Incisor |
|
Abnormal nasopharynx morphology, Midnasal stenosis, Choanal atresia, Decreased response to growth... |
OMIM:147250 |
46,Xy Complete Gonadal Dysgenesis |
|
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Primary amenorrhea, Pol... |
OMIM:604367 |
Lead Poisoning |
|
Decreased female libido, Small for gestational age, Abnormality of the menstrual cycle, Oligozoos... |
ORPHA:330015 |
Gonadoblastoma |
|
Gonadal dysgenesis with female appearance, male, Hirsutism, Gonadal calcification, Dysgerminoma, ... |
ORPHA:206484 |
Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... |
ORPHA:325124 |
Hydatidiform Mole |
|
Hyperthyroidism, Menometrorrhagia, Enlarged uterus |
ORPHA:99927 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Lig4 Syndrome |
|
Small for gestational age, Prominent nose, Cryptorchidism, Low anterior hairline, Wide nasal brid... |
OMIM:606593 |
Sheehan Syndrome |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... |
ORPHA:91355 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Decreased circulating cortisol level, Precocious puberty, Cryptorchidism, Increased circulating A... |
OMIM:614736 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Broad nasal tip, Precocious puberty, Cryptorchidism, Synophrys, Gonadal dysgenesis, Hypogonadism |
ORPHA:3306 |
Ciliary Dyskinesia, Primary, 1 |
|
Male infertility, Nasal polyposis, Anosmia, Chronic rhinitis |
OMIM:244400 |
Akt2-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycys... |
ORPHA:79085 |
Microduplication Xp11.22P11.23 Syndrome |
|
Precocious puberty, Obesity |
ORPHA:217377 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Frontal balding, Precocious puberty, Incre... |
ORPHA:786 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Obesity, Primary amenorrhea,... |
OMIM:600955 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Metrorrhagia, Precocious puberty, Ovarian neoplasm, Weight loss, Neopla... |
ORPHA:370348 |
Leopard Syndrome 1 |
|
Hypospadias, Cryptorchidism, Depressed nasal ridge, Micropenis, Hypoplasia of the ovary, Delayed ... |
OMIM:151100 |
Thumb Agenesis, Short Stature, And Immunodeficiency |
|
Anosmia, Delayed puberty |
OMIM:274190 |
Seckel Syndrome 10 |
|
Acute pancreatitis, Diabetes mellitus, Elevated circulating follicle stimulating hormone level, E... |
OMIM:617253 |
Glucocorticoid Resistance, Generalized |
|
Irregular menstruation, Increased circulating ACTH level, Increased circulating cortisol level, I... |
OMIM:615962 |
Primary Ciliary Dyskinesia |
|
Male infertility, Nasal polyposis, Female infertility, Nasal congestion, Chronic rhinitis, Abnorm... |
ORPHA:244 |
Holoprosencephaly |
|
Aplasia/Hypoplasia involving the nose, Diabetes mellitus, Failure to thrive in infancy, Choanal a... |
ORPHA:2162 |
Prader-Willi Syndrome |
|
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... |
OMIM:176270 |
Tetragametic Chimerism |
|
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... |
ORPHA:199310 |
Cidec-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycys... |
ORPHA:435651 |
Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:90695 |
Androgen Insensitivity, Partial |
|
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... |
OMIM:312300 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Low anterior hairline, Abnormality of the sense of smell |
ORPHA:3201 |
Mullerian Aplasia And Hyperandrogenism |
|
Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ... |
OMIM:158330 |
Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Alopecia, Alopecia universalis, Amenorrhea |
OMIM:600705 |
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome |
|
Thick eyebrow, Synophrys, Anosmia, Highly arched eyebrow |
ORPHA:2057 |
Blepharophimosis With Ptosis, Syndactyly, And Short Stature |
|
Synophrys, Anosmia, Wide nasal bridge, Thick eyebrow |
OMIM:210745 |
Peroxisome Biogenesis Disorder 9B |
|
Anosmia, Total anosmia |
OMIM:614879 |
Lipe-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycys... |
ORPHA:435660 |
Campomelic Dysplasia |
|
Ambiguous genitalia, Male pseudohermaphroditism, Depressed nasal bridge, Abnormality of the sense... |
ORPHA:140 |
Acro-Renal-Mandibular Syndrome |
|
Bicornuate uterus, Uterus didelphys, Abnormality of the sense of smell |
ORPHA:958 |
Global Developmental Delay With Speech And Behavioral Abnormalities |
|
Precocious puberty, Cryptorchidism, Supernumerary nipple |
OMIM:619243 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... |
OMIM:233420 |
Hyperostosis Cranialis Interna |
|
Hyposmia, Anosmia |
OMIM:144755 |
Interstitial Cystitis |
|
Dyspareunia, Abnormal vagina morphology, Abnormal labia morphology, Abnormality of the menstrual ... |
ORPHA:37202 |
Hsd10 Disease |
|
Abnormal social behavior |
ORPHA:391417 |
Familial Afibrinogenemia |
|
Menometrorrhagia, Epistaxis |
ORPHA:98880 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Narrow nasal bridge, Depressed nasal bridge, Precocious puberty, Cryptorchidism, Wide nasal bridg... |
OMIM:620073 |
Aural Atresia, Congenital |
|
Hyposmia |
OMIM:607842 |
Apnea, Obstructive Sleep |
|
Anosmia |
OMIM:107650 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Supernumerary nipple, Highly arched eyebrow, Cryptorchidism, Obesity, Hyposmia, Micropenis |
OMIM:618653 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Anteverted nares, Precocious puberty, Bulbous nose, Wide nasal bridge, Decreased body weight |
OMIM:300958 |
Indifference To Pain, Congenital, Autosomal Recessive |
|
Hyposmia, Anhidrosis, Anosmia, Hypohidrosis |
OMIM:243000 |
Musk, Inability To Smell |
|
Anosmia |
OMIM:254150 |
Anosmia For Isobutyric Acid |
|
Partial anosmia |
OMIM:207000 |
Familial Glucocorticoid Deficiency |
|
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... |
ORPHA:361 |
Anosmia For Butyl Mercaptan |
|
Anosmia |
OMIM:270350 |
Anosmia, Isolated Congenital, X-Linked |
|
Anosmia |
OMIM:301700 |
Anosmia, Isolated Congenital |
|
Anosmia |
OMIM:107200 |
Isovaleric Acid, Inability To Smell |
|
Anosmia |
OMIM:243450 |
Pituitary Carcinoma |
|
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... |
ORPHA:300385 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Macroorchidism, Decreased serum insulin-like growth factor 1, Long nose, Elevated circulating gro... |
ORPHA:85327 |
Prader-Willi Syndrome Due To Translocation |
|
Narrow nasal bridge, Hypopigmentation of hair, Hypogonadotropic hypogonadism, Anterior pituitary ... |
ORPHA:177907 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus, Long penis, H... |
OMIM:262190 |
Marcus-Gunn Syndrome |
|
Choanal atresia, Abnormality of the sense of smell |
ORPHA:91412 |
Silver-Russell Syndrome |
|
Abnormality of male external genitalia, Failure to thrive in infancy, Hypospadias, Cachexia, Prec... |
ORPHA:813 |
Bainbridge-Ropers Syndrome |
|
Synophrys, Choanal stenosis, Sparse hair, Anteverted nares, Depressed nasal bridge, Highly arched... |
OMIM:615485 |
Carney Complex |
|
Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ova... |
ORPHA:1359 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:95494 |
Mccune-Albright Syndrome |
|
Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... |
OMIM:174800 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Alopecia, Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, High... |
ORPHA:99413 |
Turner Syndrome |
|
Alopecia, Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, High... |
ORPHA:881 |
Mosaic Monosomy X |
|
Alopecia, Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, High... |
ORPHA:99228 |
Monosomy X |
|
Alopecia, Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, High... |
ORPHA:99226 |
Septopreoptic Holoprosencephaly |
|
Precocious puberty, Anterior hypopituitarism, Central diabetes insipidus |
ORPHA:280195 |
Spastic Paraplegia-Precocious Puberty Syndrome |
|
Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
Dystonia 28 |
|
Precocious puberty, Bulbous nose, Hypothyroidism |
ORPHA:589618 |
Wilson Disease |
|
Weight loss, Failure to thrive, Increased body weight, Abnormality of the menstrual cycle |
ORPHA:905 |
Ovarian Hyperstimulation Syndrome |
|
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... |
ORPHA:64739 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... |
OMIM:201810 |
Radio-Tartaglia Syndrome |
|
Thick eyebrow, Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Highly arched ey... |
OMIM:619312 |
Kufor-Rakeb Syndrome |
|
Hyposmia, Anosmia |
OMIM:606693 |
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Precocious puberty, Obesity |
ORPHA:254525 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Alopecia, Abnormal response to corticotropin releasing hormone ... |
ORPHA:189427 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Precocious puberty, Fine hair, Woolly scalp hair, Co... |
ORPHA:79414 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea |
OMIM:277000 |
19P13.12 Microdeletion Syndrome |
|
Narrow nasal bridge, Anteverted nares, Hypospadias, Precocious puberty, Cryptorchidism, Synophrys... |
ORPHA:254346 |
Refsum Disease, Classic |
|
Anosmia |
OMIM:266500 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Anosmia |
OMIM:601152 |
Fg Syndrome Type 1 |
|
Hypospadias, Choanal atresia, Prominent nose, Cryptorchidism, Frontal upsweep of hair, Small pitu... |
ORPHA:93932 |
Malignant Migrating Focal Seizures Of Infancy |
|
Precocious puberty, Failure to thrive |
ORPHA:293181 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
White eyelashes, White eyebrow, Cryptorchidism, Anosmia, Hypohidrosis, White forelock |
OMIM:609136 |
Charge Syndrome |
|
Bifid scrotum, Hypogonadotropic hypogonadism, Choanal atresia, Depressed nasal bridge, Highly arc... |
ORPHA:138 |
19P13.3 Microduplication Syndrome |
|
Precocious puberty, Underdeveloped nasal alae, Unilateral cryptorchidism, Prominent nose |
ORPHA:447980 |
Vaginal Atresia |
|
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ... |
ORPHA:65681 |
Refsum Disease |
|
Anosmia |
ORPHA:773 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant... |
ORPHA:90301 |
Donohue Syndrome |
|
Precocious puberty, Long penis, Hyperinsulinemia, Ovarian cyst, Pancreatic islet-cell hyperplasia... |
OMIM:246200 |
Female Restricted Epilepsy With Intellectual Disability |
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Abnormal social behavior |
ORPHA:101039 |
Multiple Endocrine Neoplasia Type 1 |
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Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... |
ORPHA:652 |
Somatomammotropinoma |
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Wide nose, Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating g... |
ORPHA:314769 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
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Precocious puberty, Short nose, Anteverted nares |
OMIM:619356 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
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Hypoplasia of the vagina, Clitoral hypertrophy, Congenital adrenal hyperplasia, Decreased circula... |
OMIM:202010 |
Dentici-Novelli Neurodevelopmental Syndrome |
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Precocious puberty, Prominent nasal bridge |
OMIM:619877 |
Ppoma |
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Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Abnormality of the t... |
ORPHA:97278 |
Smith-Magenis Syndrome |
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Failure to thrive in infancy, Anteverted nares, Depressed nasal bridge, Precocious puberty, Synop... |
ORPHA:819 |
Neuropathy, Hereditary Sensory And Autonomic, Type Viii |
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Hyposmia, Hypohidrosis |
OMIM:616488 |
Grfoma |
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Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Neoplasm of the thym... |
ORPHA:97261 |
Klippel-Trénaunay Syndrome |
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Abnormality of the menstrual cycle |
ORPHA:90308 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
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Precocious puberty |
ORPHA:457260 |
Basilicata-Akhtar Syndrome |
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Precocious puberty, Anteverted nares, Choanal stenosis, Wide nasal ridge |
OMIM:301032 |
Bardet-Biedl Syndrome 1 |
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Diabetes mellitus, Nephrogenic diabetes insipidus, Obesity, Abnormality of the ovary, Truncal obe... |
OMIM:209900 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Decreased response to growth hormone stimulation test, Pineal cyst, Thick nasal alae, Hypothyroid... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
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Decreased response to growth hormone stimulation test, Pineal cyst, Thick nasal alae, Hypothyroid... |
ORPHA:363958 |
Lamb-Shaffer Syndrome |
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Abnormal social behavior, Broad nasal tip |
ORPHA:530983 |
Acromegaly |
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Wide nose, Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating g... |
ORPHA:963 |
Vipoma |
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Neoplasm of the pancreas, Diabetes mellitus, Follicular thyroid carcinoma, Elevated circulating g... |
ORPHA:97282 |
Somatostatinoma |
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Neoplasm of the pancreas, Diabetes mellitus, Elevated circulating growth hormone concentration, A... |
ORPHA:97283 |
8P Inverted Duplication/Deletion Syndrome |
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Anteverted nares, Frontal balding, Precocious puberty, Cryptorchidism, Synophrys, Wide nasal brid... |
ORPHA:96092 |
Ollier Disease |
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Precocious puberty |
ORPHA:296 |
Ovarian Fibroma |
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Gonadal calcification, Ovarian fibroma, Abnormality of the ovary |
ORPHA:314473 |
Rabson-Mendenhall Syndrome |
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Increased pineal volume, Enlarged ovaries, Wide nose, Anteverted nares, Prominent nasal bridge, T... |
ORPHA:769 |
Fibrous Dysplasia Of Bone |
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Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Testicular neoplasm, Elevated ... |
ORPHA:249 |
Optic Pathway Glioma |
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Precocious puberty |
ORPHA:2086 |
Slc35A2-Cdg |
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Precocious puberty, Lateral ventricle dilatation, Elevated circulating thyroid-stimulating hormon... |
ORPHA:356961 |
Hereditary Late-Onset Parkinson Disease |
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Hyposmia, Weight loss |
ORPHA:411602 |
Charge Syndrome |
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Hypoparathyroidism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
OMIM:214800 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
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Elevated circulating growth hormone concentration, Large for gestational age, Multiple pancreatic... |
ORPHA:79644 |
Carpenter Syndrome 1 |
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Depressed nasal bridge, External genital hypoplasia, Precocious puberty, Cryptorchidism, Obesity |
OMIM:201000 |
Parkinson Disease 8, Autosomal Dominant |
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Hyposmia |
OMIM:607060 |
Pallister-Hall Syndrome |
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Small scrotum, Adrenal hypoplasia, Large for gestational age, Gonadotropin deficiency, Depressed ... |
ORPHA:672 |
Pallister-Hall Syndrome |
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Thyroid dysgenesis, Decreased circulating cortisol level, Anteverted nares, Decreased response to... |
OMIM:146510 |
Glucagonoma |
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Neoplasm of the pancreas, Diabetes mellitus, Elevated circulating growth hormone concentration, A... |
ORPHA:97280 |
Chromosome Xq26.3 Duplication Syndrome |
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Elevated circulating growth hormone concentration, Pituitary adenoma, Hyperhidrosis, Increased ci... |
OMIM:300942 |
Lacrimoauriculodentodigital Syndrome |
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Choanal atresia, Cryptorchidism, Xerostomia, Anosmia, Bicornuate uterus, Abnormal salivary gland ... |
ORPHA:2363 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
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Small for gestational age, Decreased response to growth hormone stimulation test, Hypospadias, Pr... |
ORPHA:96182 |
Burkitt Lymphoma |
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Abnormality of the ovary |
ORPHA:543 |
Waardenburg Syndrome, Type 2E |
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White eyelashes, White eyebrow, Anosmia, Premature graying of hair, White forelock |
OMIM:611584 |
Mend Syndrome |
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Failure to thrive, Prominent nasal bridge, Cryptorchidism, Abnormal nasal bridge morphology, Abno... |
ORPHA:401973 |
Wilson Disease |
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Hypoparathyroidism, Hyposmia |
OMIM:277900 |
Malakoplakia |
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Orchitis, Prostate neoplasm, Abnormality of the menstrual cycle |
ORPHA:556 |
Insulin-Like Growth Factor I Deficiency |
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Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone concentration, ... |
OMIM:608747 |
Multiple Endocrine Neoplasia, Type I |
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Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Pituitary adeno... |
OMIM:131100 |
Superficial Siderosis |
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Anosmia, Partial anosmia |
ORPHA:247245 |
Hypoplasminogenemia |
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Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology |
ORPHA:722 |
Zollinger-Ellison Syndrome |
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Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ... |
ORPHA:913 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
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Underdeveloped nasal alae, Precocious puberty, Prominent nose, Wide nasal bridge, Fine hair, Trun... |
ORPHA:2637 |
Amoebiasis Due To Free-Living Amoebae |
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Abnormal hypothalamus morphology, Hyposmia, Abnormality of the adrenal glands |
ORPHA:68 |
Occipital Horn Syndrome |
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Coarse hair, Thick hair, Abnormality of the sense of smell |
ORPHA:198 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
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Precocious puberty, Obesity, Abnormal neuron morphology |
ORPHA:163681 |
Phakomatosis Pigmentokeratotica |
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Precocious puberty, Cryptorchidism, Hyperhidrosis, Patchy alopecia, Pheochromocytoma |
ORPHA:2874 |
Myhre Syndrome |
|
Abnormal penis morphology, Hypospadias, External genital hypoplasia, Precocious puberty, Cryptorc... |
ORPHA:2588 |
9P13 Microdeletion Syndrome |
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Anteverted nares, External genital hypoplasia, Highly arched eyebrow, Precocious puberty, Wide na... |
ORPHA:324313 |
Kleefstra Syndrome Due To A Point Mutation |
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Precocious puberty, Failure to thrive, Large for gestational age |
ORPHA:261652 |
Pituitary Adenoma 2, Growth Hormone-Secreting |
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Pituitary adenoma, Elevated circulating growth hormone concentration |
OMIM:300943 |
Bronchial Neuroendocrine Tumor |
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Elevated circulating growth hormone concentration, Increased circulating ACTH level, Pulmonary ca... |
ORPHA:97287 |
Multiple Endocrine Neoplasia, Type Iv |
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Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... |
OMIM:610755 |
Kabuki Syndrome |
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Hypoplasia of penis, Hypospadias, Highly arched eyebrow, Precocious puberty, Cryptorchidism, Obes... |
ORPHA:2322 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
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Sparse scalp hair, Hypospadias, Prominent nasal bridge, Prominent nose, Precocious puberty, Trunc... |
OMIM:210720 |
Carney Complex, Type 1 |
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Elevated circulating growth hormone concentration, Pituitary adenoma, Pheochromocytoma, Thyroid c... |
OMIM:160980 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
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Curly hair, Anteverted nares, Thick nasal alae, Prominent nose, Precocious puberty, Broad nasal t... |
OMIM:619950 |
Bifid Nose With Or Without Anorectal And Renal Anomalies |
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Precocious puberty, Bulbous nose, Rectovaginal fistula, Bifid nose, Thick eyebrow |
OMIM:608980 |
Paternal Uniparental Disomy Of Chromosome 6 |
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Neonatal insulin-dependent diabetes mellitus, Prominent nose, Precocious puberty, Cryptorchidism,... |
ORPHA:96191 |
Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Small scrotum, Anteverted nares, Depressed nasal bridge, Septate vagina, Hypospadi... |
OMIM:270400 |
Childhood Absence Epilepsy |
|
Abnormal social behavior |
ORPHA:64280 |
Alexander Disease |
|
Diabetes mellitus, Precocious puberty, Hyperhidrosis, Agenesis of corpus callosum, Failure to thr... |
ORPHA:58 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Abnormal social behavior |
ORPHA:1020 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Precocious puberty, Alopecia |
OMIM:163200 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Depressed nasal bridge, Anteverted nares, Short nail, Long eyelashes, Prominent nasal tip, Abnorm... |
ORPHA:1675 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Depressed nasal bridge, Precocious puberty, Wide nasal bridge, Obesity |
ORPHA:369837 |
Metachromatic Leukodystrophy, Adult Form |
|
Abnormal social behavior, Neoplasm of the gallbladder |
ORPHA:309271 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Abnormal social behavior |
ORPHA:309256 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Depressed nasal bridge, Precocious puberty, Synophrys, Obesity, Bifid nose, Cholelithiasis |
OMIM:301066 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Abnormal social behavior |
ORPHA:309263 |
Wiskott-Aldrich Syndrome |
|
Hypoplasia of the thymus, Epistaxis, Abnormality of the menstrual cycle |
ORPHA:906 |
Wolf-Hirschhorn Syndrome |
|
Small for gestational age, Hypospadias, Highly arched eyebrow, Precocious puberty, Cryptorchidism... |
OMIM:194190 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Precocious puberty, Prominent nasal bridge, Obesity, Type I diabetes mellitus |
OMIM:619269 |
African Trypanosomiasis |
|
Alopecia, Abnormality of the menstrual cycle, Abnormality of the endocrine system, Abnormality of... |
ORPHA:3385 |
Williams Syndrome |
|
Hypoplasia of penis, Hypogonadotropic hypogonadism, Failure to thrive in infancy, Precocious pube... |
ORPHA:904 |
Aicardi Syndrome |
|
Anteverted nares, Precocious puberty, Partial agenesis of the corpus callosum, Lateral ventricle ... |
OMIM:304050 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Precocious puberty, Cryptorchidism, Bulbous nose, Sparse hair |
OMIM:616682 |
Tay-Sachs Disease |
|
Precocious puberty, Abnormal thalamic MRI signal intensity |
ORPHA:845 |
Floating-Harbor Syndrome |
|
Narrow nasal bridge, Small for gestational age, Hypospadias, Broad nasal tip, Precocious puberty,... |
ORPHA:2044 |
Early Infantile Epileptic Encephalopathy |
|
Depressed nasal bridge, Anteverted nares, Precocious puberty, Micropenis, Failure to thrive |
ORPHA:1934 |
Tuberous Sclerosis Complex |
|
Pancreatic endocrine tumor, Pituitary adenoma, Parathyroid hyperplasia, Pheochromocytoma, Parathy... |
ORPHA:805 |
Pachydermoperiostosis |
|
Abnormal hair quantity, Abnormal hair pattern, Elevated circulating growth hormone concentration,... |
ORPHA:2796 |
Tuberous Sclerosis 1 |
|
Precocious puberty, Adenoma sebaceum, Hypothyroidism, Preauricular hair displacement |
OMIM:191100 |
Tolchin-Le Caignec Syndrome |
|
Prominent nose, Precocious puberty, Hirsutism, Wide nasal bridge, Thick eyebrow |
OMIM:618971 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Precocious puberty, Long eyelashes, Hypospadias |
OMIM:615877 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Abnormality of the endocrine system, Cryptorchidism, Precocious puberty, Abnormality of the anter... |
ORPHA:438213 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Bulbous nose, Wide nose, Abnormal social behavior, Anteverted nares |
ORPHA:314647 |
Aicardi Syndrome |
|
Precocious puberty, Partial agenesis of the corpus callosum, Sparse lateral eyebrow, Delayed puberty |
ORPHA:50 |
Neurofibromatosis Type 1 |
|
Abnormal hair quantity, Abnormality of the endocrine system, Cryptorchidism, Precocious puberty, ... |
ORPHA:636 |
Hypermobile Ehlers-Danlos Syndrome |
|
Cystocele, Decreased fertility, Abnormality of the menstrual cycle |
ORPHA:285 |
Sponastrime Dysplasia |
|
Aplasia of the nasal bone, Wide nose, Small for gestational age, Anteverted nares, Depressed nasa... |
ORPHA:93357 |
Tuberous Sclerosis 2 |
|
Precocious puberty, Adenoma sebaceum, Hypothyroidism |
OMIM:613254 |
Pmm2-Cdg |
|
Hypogonadotropic hypogonadism, Prominent nasal bridge, Elevated circulating growth hormone concen... |
ORPHA:79318 |
17Q11 Microdeletion Syndrome |
|
Depressed nasal bridge, Precocious puberty, Glomus jugular tumor, Elevated circulating parathyroi... |
ORPHA:97685 |
Niemann-Pick Disease Type C |
|
Abnormal social behavior |
ORPHA:646 |