Gene: Gnrhr MGI:95790

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

gonadotropin releasing hormone receptor

Synonyms:

N/A

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Gnrhr mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Gnrhr (2 diseases)
Human diseases predicted to be associated with Gnrhr (1462 diseases)

The table below shows human diseases associated to Gnrhr by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Normosmic Congenital Hypogonadotropic Hypogonadism		Increased female libido, Hypoplasia of the uterus, Hypoplasia of the ovary, Cryptorchidism, Impot...	ORPHA:432
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia		Infertility, Micropenis, Sparse axillary hair, Hypogonadotropic hypogonadism, Primary amenorrhea,...	OMIM:146110

The table below shows human diseases predicted to be associated to Gnrhr by phenotypic similarity.

Disease	Matching phenotypes	Source
Partial Chromosome Y Deletion	Oligospermia, Non-obstructive azoospermia, Male infertility, Decreased testicular size, Abnormal ...	ORPHA:1646
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circul...	OMIM:229070
Spermatogenic Failure 51	Microcephalic sperm head, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm mot...	OMIM:619177
Spermatogenic Failure 65	Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced...	OMIM:619712
Spermatogenic Failure, X-Linked, 3	Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short...	OMIM:301059
Spermatogenic Failure 54	Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel...	OMIM:619379
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Decreased serum testosterone concentration, Testicular microlithiasis, Micropenis, Ovarian cyst, ...	OMIM:228300
Spermatogenic Failure 63	Male infertility, Reduced progressive sperm motility, Oligospermia, Decreased testicular size	OMIM:619689
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypoplasia of the uterus, Hypoplasia of the ovary, Decreased serum testosterone concentration, Mi...	OMIM:614841
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone	Cryptorchidism, Congenital adrenal hypoplasia, Decreased circulating luteinizing hormone level, M...	OMIM:202150
Spermatogenic Failure 56	Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced...	OMIM:619515
Delayed Puberty, Self-Limited	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ...	OMIM:619613
Spermatogenic Failure 40	Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse...	OMIM:618664
Spermatogenic Failure 39	Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili...	OMIM:618643
Spermatogenic Failure 35	Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella	OMIM:618341
Spermatogenic Failure 33	Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella	OMIM:618152
Spermatogenic Failure 34	Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella	OMIM:618153
Spermatogenic Failure 18	Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella	OMIM:617576
Spermatogenic Failure 19	Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella	OMIM:617592
Spermatogenic Failure 20	Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella	OMIM:617593
Spermatogenic Failure 25	Azoospermia, Cryptozoospermia, Decreased testicular size	OMIM:617960
Spermatogenic Failure 47	Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella	OMIM:619102
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypoplasia of the uterus, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulati...	OMIM:614842
Spermatogenic Failure 72	Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s...	OMIM:619867
Spermatogenic Failure 58	Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ...	OMIM:619585
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Decreased serum testosterone concentration, Micropenis, Decreased circulating follicle stimulatin...	OMIM:614897
Spermatogenic Failure 15	Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating...	OMIM:616950
Spermatogenic Failure 11	Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility	OMIM:615081
Male Infertility Due To Acephalic Spermatozoa	Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid...	ORPHA:529970
Spermatogenic Failure 46	Coiled sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagell...	OMIM:619095
Spermatogenic Failure 10	Infertility, Abnormal sperm morphology	OMIM:614822
Spermatogenic Failure 41	Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head	OMIM:618670
Spermatogenic Failure 36	Male infertility, Abnormal sperm morphology	OMIM:618420
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo...	OMIM:619326
Spermatogenic Failure 43	Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai...	OMIM:618751
Spermatogenic Failure 49	Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe...	OMIM:619144
Spermatogenic Failure 45	Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe...	OMIM:619094
Spermatogenic Failure 48	Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility	OMIM:619108
Ovarian Dysgenesis 9	Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level...	OMIM:619665
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Abnormal vagina morphology, Infertility, Hypoplasia of the uterus, Decreased serum testosterone c...	ORPHA:168563
46,Xy Sex Reversal 11	Urogenital sinus anomaly, Decreased serum testosterone concentration, Gonadal dysgenesis with fem...	OMIM:273250
Spermatogenic Failure 1	Cryptozoospermia, Oligospermia, Male infertility	OMIM:258150
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona...	OMIM:308700
Spermatogenic Failure 2	Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating...	OMIM:108420
Spermatogenic Failure 42	Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma...	OMIM:618745
Kallmann Syndrome With Spastic Paraplegia	Testicular atrophy, Leydig cell insensitivity to gonadotropin, Eunuchoid habitus, Micropenis, Uni...	OMIM:308750
Spermatogenic Failure 64	Reduced progressive sperm motility, Abnormal sperm head morphology, Oligospermia, Male infertility	OMIM:619696
Spermatogenic Failure 24	Coiled sperm flagella, Reduced sperm motility, Microcephalic sperm head, Short sperm flagella, Ta...	OMIM:617959
Spermatogenic Failure 8	Azoospermia, Oligospermia, Cryptozoospermia	OMIM:613957
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Immotile sperm, Male infertility, Abnormal sperm morphology	OMIM:608653
Leydig Cell Hypoplasia	Abnormal external genitalia, Hypergonadotropic hypogonadism, Primary amenorrhea, Hyoplasia of the...	ORPHA:755
Spermatogenic Failure 7	Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility	OMIM:612997
Testes, Rudimentary	Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia	OMIM:273150
Spermatogenic Failure 22	Cryptozoospermia, Male infertility, Non-obstructive azoospermia	OMIM:617706
Spermatogenic Failure 70	Azoospermia, Oligospermia, Male infertility, Reduced sperm motility	OMIM:619828
Deafness-Infertility Syndrome	Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi...	OMIM:611102
Spermatogenic Failure 5	Male infertility, Multiflagellar spermatozoa, Macrocephalic sperm head	OMIM:243060
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Gonadotr...	OMIM:614837
Hypogonadotropic Hypogonadism 25 With Anosmia	Hypoplasia of the ovary, Decreased serum testosterone concentration, Micropenis, Primary amenorrh...	OMIM:618841
Chromosome Xq27.3-Q28 Duplication Syndrome	Abdominal obesity, Decreased serum testosterone concentration, Cryptorchidism, Small for gestatio...	OMIM:300869
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Decreased testicula...	ORPHA:399808
Isolated Follicle Stimulating Hormone Deficiency	Testicular atrophy, Decreased serum testosterone concentration, Sparse axillary hair, Delayed men...	ORPHA:52901
Premature Ovarian Failure 18	Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level...	OMIM:619203
X-Linked Intellectual Disability, Van Esch Type	Increased circulating gonadotropin level, Type II diabetes mellitus, Decreased serum testosterone...	ORPHA:163976
Hypogonadotropic Hypogonadism 27 Without Anosmia	Absence of pubertal development, Decreased circulating follicle stimulating hormone concentration...	OMIM:619755
Isochromosomy Yp	Ambiguous genitalia, Male infertility, Decreased testicular size, Primary gonadal insufficiency, ...	ORPHA:98797
Spermatogenic Failure 26	Acephalic spermatozoa, Infertility	OMIM:617961
Cone-Rod Dystrophy 1	Hypogonadism	OMIM:600624
Ovarian Dysgenesis 7	Hypoplasia of the uterus, Primary amenorrhea, Delayed puberty	OMIM:618117
Ring Chromosome Y Syndrome	Urogenital sinus anomaly, Ambiguous genitalia, female, Female infertility, Ambiguous genitalia, m...	ORPHA:261529
Spermatogenic Failure 50	Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size	OMIM:619145
Spermatogenic Failure 57	Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi...	OMIM:619528
Polyendocrine-Polyneuropathy Syndrome	Type II diabetes mellitus, Hypoinsulinemia, Decreased serum testosterone concentration, Hypogonad...	ORPHA:453533
Premature Ovarian Failure 7	Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Gon...	OMIM:612964
Ovarian Dysgenesis 2	Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Secon...	OMIM:300510
Spermatogenic Failure 21	Acephalic spermatozoa, Infertility, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16	Acephalic spermatozoa, Infertility, Reduced sperm motility	OMIM:617187
Spermatogenic Failure 31	Acephalic spermatozoa, Male infertility	OMIM:618112
Spermatogenic Failure 53	Male infertility, Tapered sperm head	OMIM:619258
Obesity Due To Congenital Leptin Deficiency	Hypoplasia of the ovary, Hyperinsulinemia, Decreased serum testosterone concentration, Hypergonad...	ORPHA:66628
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Blind vagina, Ovarian cyst, Decreased circulating cortisol level, Primary amenorrhea, Abnormal re...	ORPHA:90793
Spermatogenic Failure 30	Azoospermia, Cryptozoospermia	OMIM:618110
Persistent Mullerian Duct Syndrome, Types I And Ii	Decreased antimullerian hormone level, Bilateral cryptorchidism, Male infertility	OMIM:261550
X-Linked Intellectual Disability, Cilliers Type	Increased circulating gonadotropin level, Failure to thrive, Decreased serum testosterone concent...	ORPHA:163971
Spermatogenic Failure 71	Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility	OMIM:619831
Spermatogenic Failure 44	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:619044
Obesity Due To Leptin Receptor Gene Deficiency	Hypoplasia of the ovary, Hyperinsulinemia, Decreased serum testosterone concentration, Hypergonad...	ORPHA:179494
Spermatogenic Failure 38	Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti...	OMIM:618433
46,Xy Partial Gonadal Dysgenesis	Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h...	ORPHA:251510
46,Xy Sex Reversal 3	Sex reversal, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Gonadal d...	OMIM:612965
49,Xxxyy Syndrome	Abnormality of the testis size, Decreased serum testosterone concentration, External genital hypo...	ORPHA:261534
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Decreased fertility in males, Decreased circulating androgen concentration, Hypergonadotropic hyp...	ORPHA:90796
Isochromosomy Yq	Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Primary gonadal ins...	ORPHA:98798
Normosmic Congenital Hypogonadotropic Hypogonadism	Increased female libido, Hypoplasia of the uterus, Hypoplasia of the ovary, Cryptorchidism, Impot...	ORPHA:432
Premature Ovarian Failure 6	Female infertility, Hypoplasia of the uterus, Streak ovary, Elevated circulating luteinizing horm...	OMIM:612310
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism	Micropenis, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone con...	OMIM:619761
Estrogen Resistance	Hyperinsulinemia, Hypoplasia of the uterus, Primary amenorrhea	OMIM:615363
Pituicytoma	Amenorrhea, Abnormality of the pituitary gland, Impotence, Decreased serum testosterone concentra...	ORPHA:251623
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome	Hypogonadotropic hypogonadism	ORPHA:1180
Perrault Syndrome 4	Hypoplasia of the uterus, Hypoplasia of the ovary, Bicornuate uterus, Cleft palate, Primary ameno...	OMIM:615300
Syndromic X-Linked Intellectual Disability 7	Hypoplasia of penis, Micropenis, Sparse body hair, Hypogonadism, Obesity, Cryptorchidism	ORPHA:85274
Spermatogenic Failure, X-Linked, 4	Decreased serum testosterone concentration, Abnormal prolactin level, Elevated circulating lutein...	OMIM:301077
Perrault Syndrome 3	Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Primary amenorrhea	OMIM:614129
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia	Micropenis, Hypogonadotropic hypogonadism, Absence of pubertal development, Primary amenorrhea, D...	OMIM:614840
Testicular Agenesis	Urogenital sinus anomaly, Hypoplasia of the uterus, Absent testis, Absent external genitalia, Abn...	ORPHA:325124
46,Xx Testicular Disorder Of Sex Development	Polycystic ovaries, Ambiguous genitalia, Male hypogonadism, Decreased testicular size	ORPHA:393
Premature Ovarian Failure 13	Amenorrhea, Hypoplasia of the uterus, Female infertility, Oligomenorrhea, Elevated circulating fo...	OMIM:617442
Complete Androgen Insensitivity Syndrome	Blind vagina, Tall stature, Primary amenorrhea, Bilateral cryptorchidism, Increased antimullerian...	ORPHA:99429
Ovarian Dysgenesis 10	Hypoplasia of the ovary, Streak ovary, Elevated circulating luteinizing hormone level, Primary am...	OMIM:619834
Gonadoblastoma	Ovarian gonadoblastoma, Increased serum testosterone level, Gonadal dysgenesis with female appear...	ORPHA:206484
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Ambiguous genitalia, female, Decreased fertility in males, Decreased circulating cortisol level, ...	ORPHA:90791
Premature Ovarian Failure 10	Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypo...	OMIM:612885
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Abnormality of the ovary, Decreased testicular size, Hypogonadism	ORPHA:1875
Perrault Syndrome 6	Hypoplasia of the uterus, Streak ovary, Irregular menstruation, Primary amenorrhea, Secondary ame...	OMIM:617565
Spermatogenic Failure 12	Azoospermia, Infertility, Abnormal male germ cell morphology	OMIM:615413
Spermatogenic Failure 62	Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest	OMIM:619673
Spermatogenic Failure 61	Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest	OMIM:619672
Spermatogenic Failure 73	Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest	OMIM:619878
Spermatogenic Failure 59	Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest	OMIM:619645
Spermatogenic Failure 60	Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest	OMIM:619646
Spermatogenic Failure 74	Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest	OMIM:619937
49,Xyyyy Syndrome	Abnormality of the testis size, Decreased serum testosterone concentration, External genital hypo...	ORPHA:99330
Spermatogenic Failure 4	Azoospermia, Male infertility	OMIM:270960
Spermatogenic Failure, X-Linked, 2	Azoospermia, Testicular atrophy, Male infertility	OMIM:309120
Prader-Willi syndrome (Type 1)	Truncal obesity, Hypogonadism	DECIPHER:14
Prader-Willi Syndrome (Type 2)	Truncal obesity, Hypogonadism	DECIPHER:53
Müllerian Aplasia And Hyperandrogenism	Abnormal vagina morphology, Increased serum testosterone level, Hypoplasia of the uterus, Cleft p...	ORPHA:247768
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Non-obstructive azoospermia, Decreased testicular size, Abnormal spermatogenesis, Azoospermia, In...	ORPHA:399805
46,Xx Sex Reversal 2	Sex reversal, Hypoplasia of the uterus, Decreased serum testosterone concentration, Micropenis, B...	OMIM:278850
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Cryptorchidism, Micropenis, Hypospadias, Decreased fertility in females...	ORPHA:1916
Deafness, Congenital, With Total Albinism	Hypogonadism	OMIM:220900
Spermatogenic Failure, X-Linked, 1	Sertoli cell-only phenotype, Obesity	OMIM:305700
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Increased serum testosterone level, Decreased circulating aldosterone level, Hypoplasia of the ut...	OMIM:202010
Hypersecretion Of Adrenal Androgens, Familial	Amenorrhea, Premature pubarche, Increased circulating androgen concentration, Adrenal overactivity	OMIM:145295
Estrogen Resistance Syndrome	Hyperinsulinemia, Hypoplasia of the uterus, Absence of pubertal development, Primary amenorrhea, ...	ORPHA:785
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Impotence, Sparse eyebrow, Streak ovary, Hypergonadotropic hypogonadism, Alopecia, Primary amenor...	ORPHA:2232
Oocyte Maturation Defect 9	Oocyte arrest at metaphase I, Female infertility	OMIM:619011
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Infertility, Micropenis, Sparse axillary hair, Hypogonadotropic hypogonadism, Primary amenorrhea,...	OMIM:146110
Familial Male-Limited Precocious Puberty	Precocious puberty, Oligospermia, Long penis, Male infertility, Macroorchidism	ORPHA:3000
Premature Ovarian Failure 8	Ovarian neoplasm, Streak ovary, Elevated circulating luteinizing hormone level, Primary amenorrhe...	OMIM:615723
Partial Androgen Insensitivity Syndrome	Abnormal circulating estrogen level, Blind vagina, Primary amenorrhea, Ambiguous genitalia, Clito...	ORPHA:90797
Cryptorchidism, Unilateral Or Bilateral	Cryptorchidism, Unilateral cryptorchidism	OMIM:219050
7P22.1 Microduplication Syndrome	Cryptorchidism	ORPHA:314034
Premature Ovarian Failure 5	Hypoplasia of the ovary, Streak ovary, Reduced antral follicle count, Primary amenorrhea, Seconda...	OMIM:611548
Hypogonadism, Male	Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis	OMIM:241100
Premature Ovarian Failure 1	Increased circulating gonadotropin level, Irregular menstruation, Premature ovarian insufficiency	OMIM:311360
Ovarian Dysgenesis 3	Female infertility, Elevated circulating follicle stimulating hormone level, Elevated circulating...	OMIM:614324
Bardet-Biedl Syndrome 11	Obesity, Hypogonadism	OMIM:615988
Boucher-Neuhauser Syndrome	Hypogonadotropic hypogonadism, Decreased circulating gonadotropin concentration	OMIM:215470
Bardet-Biedl Syndrome 5	Obesity, Hypogonadism, External genital hypoplasia, Micropenis	OMIM:615983
Leptin Deficiency Or Dysfunction	Micropenis, Primary amenorrhea, Decreased serum leptin, Decreased testicular size, Hypogonadism, ...	OMIM:614962
Testicular Anomalies With Or Without Congenital Heart Disease	Micropenis, Ambiguous genitalia, Testicular dysgenesis, Cryptorchidism, Perineal hypospadias, Mic...	OMIM:615542
Ovarian Dysgenesis 5	Hypoplasia of the uterus, Primary amenorrhea	OMIM:617690
Female Infertility Due To Oocyte Meiotic Arrest	Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis	ORPHA:488191
Frasier Syndrome	Nephrotic syndrome, Ambiguous genitalia, male, Gonadal dysgenesis with female appearance, male, S...	ORPHA:347
Spermatogenic Failure 32	Azoospermia, Infertility	OMIM:618115
Spermatogenic Failure 23	Azoospermia, Infertility	OMIM:617707
Bardet-Biedl Syndrome 12	Obesity, Hypogonadism	OMIM:615989
Satoyoshi Syndrome	Amenorrhea, Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Ab...	ORPHA:3130
Spermatogenic Failure 6	Globozoospermia, Male infertility, Decreased acrosin in sperm head	OMIM:102530
Xq27.3Q28 Duplication Syndrome	Failure to thrive, Sparse body hair, Truncal obesity, Decreased testicular size, Hypogonadism, Cr...	ORPHA:261483
Familial Hyperprolactinemia	Amenorrhea, Infertility, Oligomenorrhea, Menorrhagia, Hemorrhagic ovarian cyst, Female hypogonadism	ORPHA:397685
Gordon Holmes Syndrome	Infertility, Oligomenorrhea, Hypogonadotropic hypogonadism	OMIM:212840
Caudal Appendage-Deafness Syndrome	Cryptorchidism	ORPHA:1123
Premature Ovarian Failure 9	Amenorrhea, Increased circulating gonadotropin level, Premature ovarian insufficiency	OMIM:615724
Spermatogenic Failure 52	Azoospermia, Male infertility	OMIM:619202
Spermatogenic Failure, Y-Linked, 2	Azoospermia, Male infertility	OMIM:415000
Asherman Syndrome	Infertility, Dysmenorrhea, Metrorrhagia, Oligomenorrhea, Abnormality of the menstrual cycle, Decr...	ORPHA:137686
Premature Ovarian Failure 16	Reduced antral follicle count, Elevated circulating follicle stimulating hormone level, Decreased...	OMIM:618723
Premature Ovarian Failure 3	Secondary amenorrhea, Hypoplasia of the uterus, Premature ovarian insufficiency	OMIM:608996
Testicular Regression Syndrome	Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma...	ORPHA:983
Premature Ovarian Failure 17	Elevated circulating luteinizing hormone level, Decreased inhibin B level, Decreased serum estrad...	OMIM:619146
Endometriosis, Susceptibility To, 1	Endometriosis, Dysmenorrhea, Decreased fertility	OMIM:131200
Young Syndrome	Obstructive azoospermia, Decreased fertility	ORPHA:3471
Oocyte Maturation Defect 2	Oocyte arrest at metaphase I, Female infertility	OMIM:616780
Oocyte Maturation Defect 4	Oocyte arrest at metaphase I, Female infertility	OMIM:617743
Invasive Mole	Menometrorrhagia	ORPHA:99925
Oocyte Maturation Defect 10	Female infertility	OMIM:619176
Oocyte Maturation Defect 8	Female infertility	OMIM:619009
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	Azoospermia, Male hypogonadism	OMIM:241000
Bifid Nose, Autosomal Dominant	Cryptorchidism	OMIM:109740
Spastic Paraparesis And Deafness	Hypogonadism	OMIM:312910
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cryptorchidism	OMIM:274205
Oocyte Maturation Defect 12	Female infertility	OMIM:619697
Spinocerebellar Ataxia Type 32	Azoospermia, Testicular atrophy, Male infertility	ORPHA:276183
Woodhouse-Sakati Syndrome	Hypoplasia of the uterus, Hyperinsulinemia, Decreased serum testosterone concentration, Decreased...	ORPHA:3464
Spinocerebellar Ataxia 32	Azoospermia, Testicular atrophy, Infertility	OMIM:613909
45,X/46,Xy Mixed Gonadal Dysgenesis	Ambiguous genitalia, female, Streak ovary, Ambiguous genitalia, Horseshoe kidney, Abnormal intern...	ORPHA:1772
Androgen Insensitivity Syndrome	Ambiguous genitalia, male, Male pseudohermaphroditism, Aplasia/hypoplasia of the uterus, Testicul...	ORPHA:754
Autosomal Recessive Spastic Paraplegia Type 26	Decreased serum testosterone concentration, Premature ovarian insufficiency	ORPHA:101006
Woodhouse-Sakati Syndrome	Hypoplasia of the uterus, Decreased serum testosterone concentration, Micropenis, Hypergonadotrop...	OMIM:241080
Hydatidiform Mole, Recurrent, 4	Female infertility	OMIM:618432
Hypergonadotropic Hypogonadism And Partial Alopecia	Hypergonadotropic hypogonadism, Streak ovary	OMIM:241090
Premature Ovarian Failure 19	Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency	OMIM:619245
Deafness-Infertility Syndrome	Azoospermia, Male infertility	ORPHA:94064
Ovarian Fibrothecoma	Increased serum testosterone level, Hirsutism, Abnormal endometrium morphology, Metrorrhagia, Abn...	ORPHA:314478
Hyperprolactinemia	Increased circulating prolactin concentration, Infertility, Oligomenorrhea, Menorrhagia	OMIM:615555
46,Xx Gonadal Dysgenesis	Streak ovary, Primary amenorrhea, Aplasia/hypoplasia of the uterus, Gonadal dysgenesis, Sparse pu...	ORPHA:243
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy	Hypergonadotropic hypogonadism, Primary amenorrhea, Gonadal dysgenesis	OMIM:607080
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type	Obesity, Cryptorchidism, Thick eyebrow	OMIM:309585
Bardet-Biedl Syndrome 6	External genital hypoplasia, Hypospadias, Renal cyst, Diabetes mellitus, Vaginal atresia, Obesity	OMIM:605231
Spermatogenic Failure 29	Azoospermia	OMIM:618091
Spermatogenic Failure 13	Azoospermia	OMIM:615841
Spermatogenic Failure 14	Azoospermia	OMIM:615842
Deleted in azoospermia	Azoospermia	OMIM:400003
Premature Ovarian Failure 20	Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Female infertility...	OMIM:619938
Bardet-Biedl Syndrome 10	Obesity, Renal cyst, Renal insufficiency, Hypogonadism	OMIM:615987
Functioning Gonadotropic Adenoma	Impotence, Ovarian cyst, Central diabetes insipidus, Pituitary gonadotropic cell adenoma, Enlarge...	ORPHA:91348
Hypogonadism-Cataract Syndrome	Infertility, Elevated circulating follicle stimulating hormone level, Male hypogonadism, Hypogona...	OMIM:240950
Polyembryoma	Increased serum serotonin, Abnormality of the endocrine system, Increased serum testosterone leve...	ORPHA:180229
Seckel Syndrome 7	Hypoplasia of the uterus, Primary amenorrhea, Central hypothyroidism	OMIM:614851
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome	Abnormal vagina morphology, Streak ovary, Hypospadias, Nephropathy, Abnormality of the uterus, Re...	OMIM:194072
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Ambiguous genitalia, female, Alopecia, Decreased circulating cortisol level, Premature thelarche,...	ORPHA:90795
Congenital Bilateral Absence Of Vas Deferens	Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility	ORPHA:48
Ane Syndrome	Decreased serum testosterone concentration, Decreased response to growth hormone stimulation test...	ORPHA:157954
46,Xy Sex Reversal 4	High palate, Sex reversal, Anal atresia, Hypoplasia of the uterus, Cleft palate, Hypergonadotropi...	OMIM:154230
46,Xy Sex Reversal 7	Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Primary amenorrhe...	OMIM:233420
Spastic Paraparesis-Deafness Syndrome	Hypogonadism	ORPHA:2815
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Hypoplasia of the uterus, Bicornuate uterus, Cleft palate, Unilateral renal agenesis, Ectopic kid...	OMIM:601076
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Micropenis, Hypogonadotropic hypogonadism, Absence of pubertal development, Primary amenorrhea, D...	OMIM:610628
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Hypergonadotropic hypogonadism	ORPHA:1014
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency	Urogenital sinus anomaly, Abnormality of the endocrine system, Hypoplasia of penis, Ambiguous gen...	ORPHA:753
Ovarian Dysgenesis 4	Decreased serum estradiol, Primary amenorrhea, Elevated circulating follicle stimulating hormone ...	OMIM:616185
Spermatogenic Failure 75	Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Early sperm...	OMIM:619949
Aarskog-Scott Syndrome	Failure to thrive, Testicular atrophy, Decreased serum testosterone concentration, Cryptorchidism...	OMIM:305400
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Secondary amenorrhea...	ORPHA:3085
Kennedy Disease	Testicular atrophy, Erectile dysfunction, Type II diabetes mellitus, Decreased fertility	ORPHA:481
Spermatogenic Failure 9	Globozoospermia, Male infertility	OMIM:613958
Spermatogenic Failure 67	Globozoospermia, Male infertility	OMIM:619803
Spermatogenic Failure 68	Globozoospermia, Male infertility	OMIM:619805
Spermatogenic Failure 69	Globozoospermia, Male infertility	OMIM:619826
Spermatogenic Failure 66	Globozoospermia, Male infertility	OMIM:619799
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Abnormal hair quantity, Abnormal testis morphology, Hypogonadism, Obesity, Low posterior hairline...	ORPHA:2233
Adenomyosis	Adenomyosis, Dysmenorrhea	OMIM:600458
Bardet-Biedl Syndrome 16	External genital hypoplasia, Renal cyst, Renal insufficiency, Hypogonadism, Obesity	OMIM:615993
Hao-Fountain Syndrome	Cryptorchidism, Premature adrenarche, Micropenis	OMIM:616863
Amed Syndrome, Digenic	Adrenal hypoplasia, Hypoplasia of the uterus	OMIM:619151
Bardet-Biedl Syndrome 4	External genital hypoplasia, Renal cyst, Hypogonadism, Obesity, Cryptorchidism	OMIM:615982
Pseudovaginal Perineoscrotal Hypospadias	Abnormality of the endocrine system, Ambiguous genitalia, male, Micropenis, Bifid scrotum, Crypto...	OMIM:264600
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism	Hypergonadotropic hypogonadism, Decreased testicular size, Micropenis	OMIM:601217
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Failure to thrive, Decreased serum testosterone concentration, Decreased testicular size, Hypogon...	OMIM:201100
46,Xx Sex Reversal 5	Urogenital sinus anomaly, Ambiguous genitalia, Increased serum testosterone level	OMIM:618901
47,Xyy Syndrome	Increased circulating gonadotropin level, Increased serum testosterone level, Tall stature, Micro...	ORPHA:8
Symptomatic Form Of Hemochromatosis Type 1	Amenorrhea, Infertility, Testicular atrophy, Decreased serum testosterone concentration, Hypogona...	ORPHA:465508
Aromatase Deficiency	Generalized hirsutism, Ambiguous genitalia, female, Female infertility, Type II diabetes mellitus...	ORPHA:91
Bardet-Biedl Syndrome 19	Renal insufficiency, Obesity, External genital hypoplasia, Hypogonadism	OMIM:615996
Perrault Syndrome 2	Amenorrhea, Streak ovary	OMIM:614926
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Abnormality of the thyroid gland, Type II diabetes mellitus, Hypoplasia of penis, Eunuchoid habit...	ORPHA:2234
46,Xy Sex Reversal 1	Sex reversal, Male pseudohermaphroditism, Abnormality of male external genitalia, Primary amenorr...	OMIM:400044
Cataract-Deafness-Hypogonadism Syndrome	Hypogonadism	ORPHA:1383
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Decreased serum testosterone concentration, Eunuchoid habitus, Elevated circulating luteinizing h...	ORPHA:3044
Ovarian Dysgenesis 6	Hypoplasia of the uterus	OMIM:618078
Amenorrhea-Galactorrhea Syndrome	Pituitary adenoma, Secondary amenorrhea	OMIM:104600
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Hypoplasia of the ovary, Reduced circulating prolactin concentration, Hypogonadotropic hypogonadi...	ORPHA:2235
Osteosclerosis With Ichthyosis And Premature Ovarian Failure	Hypoplasia of the ovary, Premature ovarian insufficiency	OMIM:609993
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	Obesity, Cryptorchidism, Hypoplasia of penis, Aplasia/Hypoplasia of the testes	ORPHA:3055
Acromesomelic Dysplasia 3	Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormon...	OMIM:609441
Premature Ovarian Failure 11	Secondary amenorrhea, Oligomenorrhea, Elevated circulating follicle stimulating hormone level	OMIM:616946
Macrocephaly, Acquired, With Impaired Intellectual Development	Unilateral cryptorchidism	OMIM:618286
Ovarian Dysgenesis 1	Increased circulating gonadotropin level, Primary amenorrhea, Gonadal dysgenesis	OMIM:233300
Hepatic Adenomas, Familial	Polycystic ovaries, Maturity-onset diabetes of the young	OMIM:142330
Hypergonadotropic Hypogonadism-Cataract Syndrome	Hypergonadotropic hypogonadism, Primary amenorrhea, Absence of secondary sex characteristics, Sec...	ORPHA:2410
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o...	ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o...	ORPHA:289548
Prolactin Deficiency, Isolated	Infertility, Irregular menstruation, Reduced circulating prolactin concentration	OMIM:264110
Progeria-Short Stature-Pigmented Nevi Syndrome	Neoplasm of the pancreas, Decreased serum testosterone concentration, Micropenis, Hypergonadotrop...	ORPHA:2959
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	External genital hypoplasia, Central adrenal insufficiency, Primary amenorrhea, Clitoral hypoplas...	ORPHA:98754
Kennerknecht syndrome	High palate, Agonadism, Hypoplasia of the uterus, Malrotation of colon	OMIM:600908
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Childhood-onset truncal obesity, Truncal obesity, Micropenis	OMIM:610156
46,Xy Complete Gonadal Dysgenesis	Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis, Hypogonadotropic hypogonadism	ORPHA:242
Uterine Anomalies	Abnormality of the uterus, Bicornuate uterus	OMIM:192000
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	External genital hypoplasia, Central adrenal insufficiency, Primary amenorrhea, Clitoral hypoplas...	ORPHA:98793
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Decreased re...	ORPHA:226307
Mehmo Syndrome	Hypoplasia of penis, External genital hypoplasia, Micropenis, Diabetes mellitus, Obesity, Cryptor...	ORPHA:85282
Cortisone Reductase Deficiency 1	Infertility, Hirsutism, Precocious puberty, Alopecia, Oligomenorrhea, Obesity	OMIM:604931
N Syndrome	Hypospadias, Cryptorchidism	ORPHA:2608
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Micropenis, Primary amenorrhea, Decreased testicular size, Hypogonadism, Cryptorchidism	OMIM:616030
Bardet-Biedl Syndrome	Generalized hirsutism, Hypoplasia of the ovary, Nephrotic syndrome, Hypoplasia of penis, Multicys...	ORPHA:110
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	External genital hypoplasia, Central adrenal insufficiency, Primary amenorrhea, Clitoral hypoplas...	ORPHA:177904
Morbid Obesity And Spermatogenic Failure	Azoospermia, Oligospermia, Infertility, Type II diabetes mellitus	OMIM:615703
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	External genital hypoplasia, Central adrenal insufficiency, Primary amenorrhea, Clitoral hypoplas...	ORPHA:177901
Oocyte Maturation Defect 11	Female infertility	OMIM:619643
Oocyte Maturation Defect 7	Female infertility	OMIM:618550
Oocyte Maturation Defect 6	Female infertility	OMIM:618353
Progesterone Resistance	Female infertility	OMIM:264080
Preimplantation Embryonic Lethality 1	Female infertility	OMIM:616814
Oocyte Maturation Defect 1	Female infertility	OMIM:615774
Double Uterus-Hemivagina-Renal Agenesis Syndrome	Dyspareunia, Dysmenorrhea, Metrorrhagia, Uterus didelphys, Abnormal uterine cervix morphology, Pa...	ORPHA:3411
Meningioma	Amenorrhea, Enlarged pituitary gland, Impotence, Decreased serum testosterone concentration, Redu...	ORPHA:2495
Bone Marrow Failure Syndrome 5	Testicular atrophy, Hypogonadism	OMIM:618165
Plin1-Related Familial Partial Lipodystrophy	Infertility, Hyperinsulinemia, Oligomenorrhea, Insulin-resistant diabetes mellitus at puberty, Ab...	ORPHA:280356
Leydig Cell Hypoplasia, Type I	Hypergonadotropic hypogonadism, Increased circulating gonadotropin level	OMIM:238320
Premature Ovarian Failure 15	Oligomenorrhea	OMIM:618096
46,Xx Ovotesticular Disorder Of Sex Development	Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid...	ORPHA:2138
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Female infertility, Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Eleva...	ORPHA:572333
Blepharophimosis, Ptosis, And Epicanthus Inversus	Amenorrhea, High palate, Female infertility, Hypoplasia of the uterus, Irregular menstruation, In...	OMIM:110100
Image Syndrome	Hypospadias, Adrenal hypoplasia, Hydronephrosis, Hypogonadism, Cryptorchidism	ORPHA:85173
Polyendocrine-Polyneuropathy Syndrome	Central hypothyroidism, Hypogonadism	OMIM:616113
Craniostenosis, Sagittal, With Congenital Heart Disease, Mental Deficiency, And Mandibular Ankylosis	Cryptorchidism, Microphallus, Micropenis	OMIM:218450
Oliver-Mcfarlane Syndrome	Decreased response to growth hormone stimulation test, Hypoplasia of penis, Alopecia, Sparse hair...	OMIM:275400
Satoyoshi Syndrome	Amenorrhea, Malabsorption, Hypoplasia of the uterus	OMIM:600705
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency	Infertility, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Abnormality of the urethr...	ORPHA:752
Spermatogenic Failure 28	Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul...	OMIM:618086
Xp22.3 Microdeletion Syndrome	Polycystic ovaries, Hypogonadotropic hypogonadism, Secondary amenorrhea, Decreased fertility	ORPHA:1643
Retinitis Pigmentosa 59	Cryptorchidism, Renal insufficiency, Micropenis	OMIM:613861
Azoospermia, Obstructive, With Nephrolithiasis	Spermatocele, Obstructive azoospermia, Male infertility	OMIM:301060
Post-Traumatic Pituitary Deficiency	Amenorrhea, Infertility, Abnormal prolactin level, Decreased response to growth hormone stimulati...	ORPHA:95619
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	Cryptorchidism, Cleft palate	ORPHA:1074
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyperactive renin-angiotensin system, Ambiguous genitalia, female, Abnormal external genitalia, T...	ORPHA:90794
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Obesity, Cryptorchidism, External genital hypoplasia, Hypogonadism	ORPHA:363741
Premature Ovarian Failure 2B	Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency	OMIM:300604
Spastic Paraplegia-Precocious Puberty Syndrome	Hyperplasia of the Leydig cells, Precocious puberty in males	ORPHA:2826
Androgen Insensitivity Syndrome	Labial hypoplasia, Blind vagina, Sparse axillary hair, Absent facial hair, Elevated circulating l...	OMIM:300068
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Hypogonadism	OMIM:254000
Retinitis Pigmentosa	Type II diabetes mellitus, Hyperinsulinemia, Hypoplasia of penis, Hypogonadism, Obesity, Abnormal...	ORPHA:791
Prader-Willi-Like Syndrome	External genital hypoplasia, Central adrenal insufficiency, Primary amenorrhea, Clitoral hypoplas...	ORPHA:398073
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia	Hypogonadotropic hypogonadism	OMIM:615269
Growth Hormone Insensitivity Syndrome	Failure to thrive, Type II diabetes mellitus, Hypoplasia of penis, Truncal obesity, Fine hair, Di...	ORPHA:181393
Prader-Willi Syndrome	Infertility, Precocious puberty, External genital hypoplasia, Small pituitary gland, Decreased re...	ORPHA:739
Biemond Syndrome Type 2	Hypogonadotropic hypogonadism, Hypospadias, Delayed puberty, Hypogonadism, Obesity	ORPHA:141333
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility	OMIM:313200
Placental Site Trophoblastic Tumor	Amenorrhea, Metrorrhagia	ORPHA:99928
Renal Cysts And Diabetes Syndrome	Nephrolithiasis, Hypoplasia of the uterus, Atretic vas deferens, Bicornuate uterus, Reduced sperm...	OMIM:137920
Adenohypophysitis	Amenorrhea, Adrenocorticotropic hormone deficiency, Impotence, Decreased male libido, Decreased s...	ORPHA:95512
Wilson-Turner Syndrome	Hypogonadotropic hypogonadism, Cryptorchidism, Thick eyebrow, Truncal obesity	ORPHA:3459
Fowler Urethral Sphincter Dysfunction Syndrome	Dysuria, Amenorrhea, Hirsutism, Abnormality of the urethra, Menorrhagia, Oligomenorrhea, Urinary ...	ORPHA:2795
Adrenal Hypoplasia, Congenital	Adrenal insufficiency, Decreased circulating aldosterone level, Precocious puberty, Decreased cir...	OMIM:300200
Non-Functioning Pituitary Adenoma	Impotence, Decreased fertility in males, Central adrenal insufficiency, Erectile dysfunction, Hyp...	ORPHA:91349
Polycystic Ovary Syndrome 1	Amenorrhea, Hirsutism, Oligomenorrhea, Obesity, Enlarged polycystic ovaries	OMIM:184700
Premature Ovarian Failure 2A	Secondary amenorrhea, Premature ovarian insufficiency	OMIM:300511
Bardet-Biedl Syndrome 2	Diabetes mellitus, Obesity, External genital hypoplasia, Hypogonadism	OMIM:615981
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy	Abnormal calcium-phosphate regulating hormone level, Precocious puberty, Abnormal hair quantity, ...	ORPHA:457059
Periventricular Nodular Heterotopia 7	Cryptorchidism, Cleft palate	OMIM:617201
Hydatidiform Mole	Menometrorrhagia, Hyperthyroidism, Enlarged uterus	ORPHA:99927
Bowen-Conradi Syndrome	Cryptorchidism	ORPHA:1270
Vaginal Atresia	Bicornuate uterus, Imperforate hymen, Uterus didelphys, Primary amenorrhea, Cervicitis, Transvers...	ORPHA:65681
Mental Retardation Syndrome, Belgian Type	Hypergonadotropic hypogonadism, Diabetes mellitus	OMIM:249599
Renal Hypodysplasia/Aplasia 1	Vaginal atresia, Primary amenorrhea, Bicornuate uterus, Proteinuria	OMIM:191830
Central Precocious Puberty	Premature thelarche, Isosexual precocious puberty, Overgrowth, Abnormality of secondary sexual ha...	ORPHA:759
Panhypophysitis	Amenorrhea, Adrenocorticotropic hormone deficiency, Impotence, Decreased male libido, Decreased s...	ORPHA:95513
Multicore Myopathy With Mental Retardation, Short Stature, And Hypogonadotropic Hypogonadism	Hypogonadotropic hypogonadism	OMIM:253320
Young Syndrome	Azoospermia	OMIM:279000
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Aplasia/hypoplasia of the uterus, Azoospermia, Ectopic kidney, Bicornuate uterus	ORPHA:2578
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Obesity, Cryptorchidism, Hypogonadism	OMIM:601794
Tetragametic Chimerism	Gonadal dysgenesis with female appearance, male, Micropenis, Bifid scrotum, Perineal hypospadias,...	ORPHA:199310
Precocious Puberty, Male-Limited	Precocious puberty in males, Decreased testicular size	OMIM:176410
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyperactive renin-angiotensin system, Decreased circulating cortisol level, Male pseudohermaphrod...	ORPHA:90790
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome	Cryptorchidism	ORPHA:1568
Prader-Willi Syndrome Due To Imprinting Mutation	Hypogonadotropic hypogonadism, Hypopigmentation of hair, Obesity, External genital hypoplasia	ORPHA:177910
Hyperostosis Frontalis Interna	Increased circulating prolactin concentration, Irregular menstruation, Diabetes mellitus	OMIM:144800
Bardet-Biedl Syndrome 8	Hypospadias, Obesity, Hypogonadism	OMIM:615985
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Small pituitary gland, Micropenis, Cleft palate, Primary amenorrhea, Decreased testicular size, C...	OMIM:614880
Crandall Syndrome	Pili torti, Hypoplasia of penis, Brittle hair, Alopecia, Sparse body hair, Aplasia/Hypoplasia of ...	ORPHA:202
Deafness, Conductive, With Malformed External Ear	Hypogonadism	OMIM:221300
Spermatogenic Failure 3	Male infertility, Reduced sperm motility	OMIM:606766
Spermatogenic Failure, Y-Linked, 1	Male infertility, Reduced sperm motility	OMIM:400042
Spermatogenic Failure 55	Male infertility, Reduced sperm motility	OMIM:619380
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Polycystic ovaries, Precocious puberty	ORPHA:2229
Borjeson-Forssman-Lehmann Syndrome	Micropenis, Delayed puberty, Hypoplasia of the prostate, Obesity, Cryptorchidism	OMIM:301900
Premature Ovarian Failure 14	Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated circulating follicle...	OMIM:618014
Bardet-Biedl Syndrome 22	Large for gestational age, Obesity, Hypogonadism	OMIM:617119
Precocious Puberty, Central, 2	Premature thelarche, Premature pubarche	OMIM:615346
Microduplication Xp11.22P11.23 Syndrome	Obesity, Precocious puberty	ORPHA:217377
X-Linked Intellectual Disability, Siderius Type	Cryptorchidism, Decreased testicular size	ORPHA:85287
Bardet-Biedl Syndrome 1	Abdominal obesity, Nephrogenic diabetes insipidus, Hirsutism, Micropenis, Truncal obesity, Decrea...	OMIM:209900
Generalized Glucocorticoid Resistance Syndrome	Infertility, Decreased circulating aldosterone level, Precocious puberty, Hirsutism, Increased ci...	ORPHA:786
Gestational Choriocarcinoma	Metrorrhagia	ORPHA:99926
Polydactyly-Myopia Syndrome	Cryptorchidism	ORPHA:2917
Chromosome 18P Deletion Syndrome	High palate, Micropenis, Gonadal dysgenesis, Decreased testicular size, Cryptorchidism	OMIM:146390
Mayer-Rokitansky-Kuster-Hauser Syndrome	Amenorrhea, Aplasia of the vagina, Hypoplasia of the uterus	OMIM:277000
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Cleft palate	OMIM:612370
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Absent facial hair, Abnormality of the hypothalamus-pituitary axi...	ORPHA:2183
Endocardial Fibroelastosis	Cryptorchidism, Anterior hypopituitarism, Hypoplasia of penis	ORPHA:2022
Pituitary Hormone Deficiency, Combined, 2	Adrenal insufficiency, Reduced circulating prolactin concentration, Panhypopituitarism, Hypothyro...	OMIM:262600
Perrault Syndrome 5	Hypergonadotropic hypogonadism, Primary amenorrhea, Gonadal dysgenesis	OMIM:616138
Isolated Glycerol Kinase Deficiency	Adrenocortical hypoplasia, Cryptorchidism	ORPHA:408
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia	High palate, Small pituitary gland, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea...	OMIM:612702
Mullerian Aplasia And Hyperandrogenism	Amenorrhea, Abnormality of the endocrine system, Hirsutism, Unilateral renal agenesis, Aplasia/Hy...	OMIM:158330
Autosomal Recessive Spastic Paraplegia Type 46	Infertility, Reduced sperm motility, Decreased testicular size, Abnormal sperm head morphology, A...	ORPHA:320391
Leukodystrophy, Hypomyelinating, 21	Hypogonadotropic hypogonadism, Cryptorchidism	OMIM:619310
Bardet-Biedl Syndrome 7	Obesity, Hypogonadism	OMIM:615984
Mucocutaneous Ulceration, Chronic	Vaginal mucosal ulceration	OMIM:618287
Kallmann Syndrome	Dyspareunia, Hypoplasia of penis, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, ...	ORPHA:478
Myoectodermal Gonadal Dysgenesis Syndrome	Anal atresia, Hypoplasia of the uterus, Unilateral renal agenesis, Elevated circulating luteinizi...	OMIM:618419
Maternal Uniparental Disomy Of Chromosome 6	Hydrocele testis, Increased serum testosterone level, Cleft palate, Congenital adrenal hyperplasi...	ORPHA:96181
Coffin-Siris Syndrome 9	High palate, Hypoplasia of the uterus, Decreased response to growth hormone stimulation test, Del...	OMIM:615866
Intellectual Developmental Disorder, X-Linked 103	Bilateral cryptorchidism, Micropenis	OMIM:300982
Hymen, Imperforate	Amenorrhea, Hematocolpos, Imperforate hymen, Hydrocolpos	OMIM:237100
Aromatase Deficiency	Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism	OMIM:613546
Spastic Paraplegia 26, Autosomal Recessive	Decreased serum testosterone concentration, Urinary urgency	OMIM:609195
Laurence-Moon Syndrome	Type II diabetes mellitus, Hypoplasia of penis, Renal insufficiency, Displacement of the urethral...	ORPHA:2377
Mehmo Syndrome	Decreased response to growth hormone stimulation test, Micropenis, Small for gestational age, Del...	OMIM:300148
Rudiger Syndrome	Ovarian cyst, Ureterovesical stenosis, Bicornuate uterus, Micropenis	OMIM:268650
Gordon Syndrome	High palate, Cryptorchidism, Cleft palate	ORPHA:376
Lipodystrophy, Partial, Acquired, Susceptibility To	Hirsutism, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Hematuria, Proteinuria, ...	OMIM:608709
3Q13 Microdeletion Syndrome	Cryptorchidism, Hypoplasia of penis	ORPHA:1621
Popliteal Pterygium Syndrome	Hypoplasia of the uterus, Cleft palate, Bifid scrotum, Small scrotum, Hypoplasia of the vagina, B...	OMIM:119500
Cortisone Reductase Deficiency 2	Obesity, Premature pubarche	OMIM:614662
Renal, Genital, And Middle Ear Anomalies	Vaginal atresia	OMIM:267400
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Cryptorchidism, Oligospermia	OMIM:314300
Androgen Insensitivity, Partial	Infertility, Micropenis, Bifid scrotum, Male pseudohermaphroditism, Absent vas deferens, Hypogona...	OMIM:312300
Mccune-Albright Syndrome	Renal phosphate wasting, Renal tubular dysfunction, Increased serum testosterone level, Precociou...	ORPHA:562
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Abnormal circulating insulin concentration, Decreased circulating free T3, Increased circulating ...	ORPHA:171706
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Adrenal insufficiency, Central adrenal insufficiency, Delayed puberty, Hypogonadism	OMIM:612079
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency	Increased circulating ACTH level, Ambiguous genitalia, Congenital adrenal hyperplasia	OMIM:613571
Microcephaly-Microcornea Syndrome, Seemanova Type	High palate, Hypogonadism	ORPHA:2528
Temple Syndrome	Small for gestational age, Maturity-onset diabetes of the young, Truncal obesity, Decreased testi...	OMIM:616222
Renal And Mullerian Duct Hypoplasia	Hydrocele testis, Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney, Aplas...	OMIM:266810
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Hypergonadotropic hypogonadism, Male hypogonadism	OMIM:307500
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Decreased circulating androgen concentration, Abnormal external genitalia, Disproportionate tall ...	ORPHA:95699
Bangstad Syndrome	Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gland, Hyp...	ORPHA:1227
Temple Syndrome	Precocious puberty, Type II diabetes mellitus, Decreased response to growth hormone stimulation t...	ORPHA:254516
Spinocerebellar Ataxia, Autosomal Recessive 16	Hypogonadism	OMIM:615768
Classic Galactosemia	Oligomenorrhea, Primary amenorrhea, Decreased fertility in females, Secondary amenorrhea, Male in...	ORPHA:79239
Conductive Deafness-Malformed External Ear Syndrome	High palate, Hypogonadism	ORPHA:3216
Fetal Minoxidil Syndrome	Cryptorchidism	ORPHA:1918
Ovarian Dysgenesis 8	Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated circulating follicle...	OMIM:618187
Lessel-Kubisch Syndrome	Renal hypoplasia, Renal insufficiency, Hypogonadism	OMIM:618681
Non-Syndromic Posterior Hypospadias	Anal atresia, Abnormality of the endocrine system, Cleft palate, Bifid scrotum, Micropenis, Ureth...	ORPHA:95706
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Hirsutism, Low anterior hairline, Decreased serum testosterone concentration, Sparse eyebrow, Hyp...	ORPHA:495875
Prolactinoma	Impotence, Dyspareunia, Decreased fertility in males, Central adrenal insufficiency, Erectile dys...	ORPHA:2965
Hypothyroidism, Congenital, Nongoitrous, 8	Secondary amenorrhea, Inappropriately normal thyroid-stimulating hormone level, Central hypothyro...	OMIM:301033
Tetralogy Of Fallot	Cryptorchidism	ORPHA:3303
Familial Glucocorticoid Deficiency	Adrenal insufficiency, Decreased circulating aldosterone level, Precocious puberty, Leydig cell n...	ORPHA:361
Prolactin Deficiency With Obesity And Enlarged Testes	Obesity, Reduced circulating prolactin concentration, Macroorchidism	OMIM:264120
Hypotonia, Infantile, With Psychomotor Retardation	Cryptorchidism	OMIM:616816
Ovarian Fibroma	Ovarian fibroma, Gonadal calcification, Abnormality of the ovary	ORPHA:314473
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency	Hypothyroidism, Male pseudohermaphroditism, Female external genitalia in individual with 46,XY ka...	OMIM:264300
Hemochromatosis, Type 1	Amenorrhea, Testicular atrophy, Impotence, Alopecia, Hypogonadotropic hypogonadism, Diabetes mell...	OMIM:235200
Retinopathy, Pigmentary, And Mental Retardation	Truncal obesity, Hypogonadism	OMIM:268050
Microcephaly 16, Primary, Autosomal Recessive	Cryptorchidism	OMIM:616681
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased seru...	OMIM:604168
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Sparse hair, Hypergonadotropic hypogonadism, Secondary amenorrhea, Insulin-resistant diabetes mel...	OMIM:268020
Wagr Syndrome	Obesity, Ambiguous genitalia, Cryptorchidism, Displacement of the urethral meatus	ORPHA:893
Microphthalmia, Syndromic 9	Hypoplasia of the uterus, Bicornuate uterus, Renal hypoplasia, Horseshoe kidney, Hydronephrosis, ...	OMIM:601186
Congenital Generalized Lipodystrophy	Amenorrhea, Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Hypertrichosis, L...	ORPHA:528
X-Linked Intellectual Disability, Miles-Carpenter Type	Hypogonadism	ORPHA:85283
Pituitary Stalk Interruption Syndrome	Failure to thrive, Hypoplasia of penis, Abnormality of the hypothalamus-pituitary axis, Primary a...	ORPHA:95496
Sim1-Related Prader-Willi-Like Syndrome	External genital hypoplasia, Primary amenorrhea, Clitoral hypoplasia, Hypogonadism, Small scrotum...	ORPHA:398079
Pigmented Nodular Adrenocortical Disease, Primary, 1	Paradoxical increased cortisol secretion on dexamethasone suppression test, Increased serum testo...	OMIM:610489
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Cleft palate, Micropenis, Unilateral renal agenesis, Hypogonadotropic hypogonadism, Primary ameno...	OMIM:244200
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	High palate, Blind vagina, Bifid scrotum, Micropenis, Glandular hypospadias, Penile hypospadias, ...	ORPHA:456328
Renal Hypodysplasia/Aplasia 3	Multicystic kidney dysplasia, Abnormality of the uterus, Horseshoe kidney, Hydronephrosis, Vesico...	OMIM:617805
Intellectual Developmental Disorder, X-Linked, Syndromic 11	Obesity, Macroorchidism	OMIM:300238
Moynahan Syndrome	Hypogonadism	ORPHA:2574
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome	Hypergonadotropic hypogonadism	ORPHA:88637
Leptin Receptor Deficiency	Decreased response to growth hormone stimulation test, Hypergonadotropic hypogonadism, Delayed pu...	OMIM:614963
Akt2-Related Familial Partial Lipodystrophy	Oligomenorrhea, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycystic ovaries, ...	ORPHA:79085
Vas Deferens, Congenital Bilateral Aplasia Of	Azoospermia, Male infertility, Absent vas deferens	OMIM:277180
Gabriele-De Vries Syndrome	Cryptorchidism	OMIM:617557
Linear Skin Defects With Multiple Congenital Anomalies 1	Chordee, Anal atresia, Hypoplasia of the uterus, Cleft palate, Micropenis, Hypospadias, Ovotestis...	OMIM:309801
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hypoparathyroidism, Chronic kidney disease, Nephrotic syndrome, Uterus didelphys, Proximal renal ...	OMIM:146255
Whim Syndrome 1	Abnormal morphology of female internal genitalia, Abnormality of female external genitalia	OMIM:193670
Ovarian Hyperstimulation Syndrome	Increased serum testosterone level, Ovarian cyst, Hemorrhagic ovarian cyst, Increased circulating...	ORPHA:64739
Lig4 Syndrome	Amenorrhea, Failure to thrive, Micropenis, Hypothyroidism, Cryptorchidism	OMIM:606593
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cleft palate, Decreased testicular size, Micropenis	OMIM:614838
Premature Ovarian Failure 12	Primary amenorrhea	OMIM:616947
Familial Partial Lipodystrophy, Köbberling Type	Polycystic ovaries, Hyperinsulinemia, Diabetes mellitus	ORPHA:79084
Dysmyelination With Jaundice	Hydroureter, Cryptorchidism, Hypoplasia of penis, Hydronephrosis	OMIM:224250
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia	Hypogonadotropic hypogonadism, Primary amenorrhea	OMIM:614839
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia	Cryptorchidism, Primary amenorrhea, Decreased testicular size	OMIM:614858
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia	Absence of pubertal development, Hypogonadism	OMIM:615267
Urban-Rogers-Meyer Syndrome	Hypoplasia of penis, Abnormality of the ureter, Hypogonadism, Obesity, Cryptorchidism	ORPHA:3409
Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism Syndrome	Hypogonadotropic hypogonadism	ORPHA:2560
Diencephalic Syndrome	Cachexia, Abnormality of the hypothalamus-pituitary axis, Decreased body weight, Long penis	ORPHA:1672
Hemochromatosis, Type 2A	Amenorrhea, Infertility, Hypogonadotropic hypogonadism, Azoospermia	OMIM:602390
1Q21.1 Microduplication Syndrome	Hypospadias, Cryptorchidism	ORPHA:250994
Isolated Splenogonadal Fusion	Hydrocele testis, Abnormal penis morphology, Unilateral cryptorchidism, Testicular mass, Bilatera...	ORPHA:457083
Cidec-Related Familial Partial Lipodystrophy	Pancreatitis, Oligomenorrhea, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycy...	ORPHA:435651
Mmep Syndrome	Cryptorchidism	ORPHA:3434
48,Xxyy Syndrome	Infertility, Type II diabetes mellitus, Hypoplasia of penis, Tall stature, Hypergonadotropic hypo...	ORPHA:10
Ataxia-Telangiectasia	Failure to thrive, Premature graying of hair, Type II diabetes mellitus, Hypopigmentation of hair...	ORPHA:100
Silver-Russell Syndrome 3	Ambiguous genitalia, Cryptorchidism, Hypospadias	OMIM:616489
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Cryptorchidism	ORPHA:2489
Morm Syndrome	Truncal obesity, Micropenis	ORPHA:75858
Megalencephaly	Macroorchidism, Truncal obesity, Long penis	ORPHA:2477
Perlman Syndrome	Hyperinsulinemia, Abnormal pancreas morphology, High, narrow palate, Hypoplasia of penis, Cryptor...	ORPHA:2849
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Myotonic Dystrophy 1	Cholelithiasis, Frontal balding, Testicular atrophy, Hypogonadism	OMIM:160900
Borjeson-Forssman-Lehmann Syndrome	Thick eyebrow, Hypoplasia of penis, Sparse hair, Truncal obesity, Decreased testicular size, Hypo...	ORPHA:127
Preeclampsia	Chronic kidney disease, Small for gestational age, Increased body mass index, Type I diabetes mel...	ORPHA:275555
Syndromic Recessive X-Linked Ichthyosis	Abnormal stomach morphology, Unilateral renal agenesis, Testicular seminoma, Renal insufficiency,...	ORPHA:281090
Trisomy 5P	Obesity, Hypoplasia of penis	ORPHA:1742
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia	Delayed puberty, Hypogonadism	OMIM:615270
Burkitt Lymphoma	Abnormality of the ovary	ORPHA:543
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Primary amenorrhea, Obesity	OMIM:600955
46,Xy Sex Reversal 10	Sex reversal, Micropenis, Ambiguous genitalia, Dysgerminoma, Decreased testicular size, Gonadobla...	OMIM:616425
Meacham Syndrome	Abnormal vagina morphology, Hypoplasia of penis, Hydrometrocolpos, Crossed fused renal ectopia, A...	ORPHA:3097
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	High palate, Hyperinsulinemia, Precocious puberty, Diabetic ketoacidosis, Long penis, Clitoral hy...	OMIM:262190
Pituitary Gigantism	Amenorrhea, Pituitary growth hormone cell adenoma, Increased circulating insulin-like growth fact...	ORPHA:99725
Lipodystrophy, Familial Partial, Type 3	Hirsutism, Hyperinsulinemia, Type II diabetes mellitus, Oligomenorrhea, Primary amenorrhea, Mater...	OMIM:604367
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia	Hypogonadism	OMIM:251240
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Cryptorchidism, Precocious puberty, Congenital hypothyroidism, Renal salt wasting	OMIM:614736
Perrault Syndrome 1	Increased circulating gonadotropin level, Primary amenorrhea, Gonadal dysgenesis	OMIM:233400
Robinow Syndrome	Decreased serum testosterone concentration, External genital hypoplasia, Cryptorchidism, Micropen...	ORPHA:97360
Acrodysostosis 2 With Or Without Hormone Resistance	Fair hair, Hypospadias, Congenital hypothyroidism, Diabetes mellitus, Obesity, Cryptorchidism, Re...	OMIM:614613
Meckel Syndrome 12	Vaginal atresia, Ureteral hypoplasia, Renal hypoplasia	OMIM:616258
Retinal Dystrophy With Or Without Extraocular Anomalies	Secondary amenorrhea, Premature ovarian insufficiency, Goiter	OMIM:617175
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Adrenocorticotropic hormone deficiency, Impotence, Precocious puberty, Decreased response to grow...	ORPHA:91354
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hypertrichosis, Micropenis, Abnormal fallopian tube morphology, Abnormality of the uterus, Pancre...	ORPHA:1655
Hyperinsulinemic Hypoglycemia, Familial, 2	Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Nesi...	OMIM:601820
N Syndrome	Hypospadias, Cryptorchidism	OMIM:310465
Autoimmune Polyendocrinopathy Type 2	Hypoparathyroidism, Abnormality of the thyroid gland, Graves disease, Primary adrenal insufficien...	ORPHA:3143
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Premature pubarche, Cryptorchidism	ORPHA:457205
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Cryptorchidism	ORPHA:1174
Anemia, Hypochromic Microcytic, With Iron Overload 2	Azoospermia, Hypogonadism	OMIM:615234
Galactosemia	Failure to thrive, Primary amenorrhea, Oligomenorrhea, Secondary amenorrhea, Renal insufficiency,...	ORPHA:352
Leukoencephalopathy With Dystonia And Motor Neuropathy	Hypergonadotropic hypogonadism, Azoospermia	OMIM:613724
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Hypospadias, Cryptorchidism, Anal atresia, Hypoplasia of penis	ORPHA:1381
Mckusick-Kaufman Syndrome	Vesicovaginal fistula, Hydrometrocolpos, Hydroureter, Transverse vaginal septum, Polycystic kidne...	OMIM:236700
8p23.1 deletion syndrome	Cryptorchidism	DECIPHER:39
Fetal Akinesia Deformation Sequence 4	High palate, Cryptorchidism	OMIM:618393
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Unilateral renal agenesis, Uterus didelphys, Septate vagina, Polycystic kidne...	ORPHA:2237
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Decreased response to growth hormone stimulation test, Micropenis, Hypospadias, Hypercalciuria, A...	OMIM:614732
Hemochromatosis Type 2	Abnormality of endocrine pancreas physiology, Impotence, Diabetes mellitus, Hypogonadism	ORPHA:79230
Precocious Puberty, Central, 1	Hypothyroidism, Elevated circulating luteinizing hormone level, Elevated circulating follicle sti...	OMIM:176400
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome

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