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 (1344 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		Female hypogonadism, Primary amenorrhea, Impotence, Absence of secondary sex characteristics, Dec...	ORPHA:432
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia		Primary amenorrhea, Decreased testicular size, Sparse axillary hair, Infertility, Sparse pubic ha...	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	Abnormal spermatogenesis, Decreased testicular size, Oligospermia, Male infertility, Cryptorchidi...	ORPHA:1646
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Decreased testicu...	OMIM:229070
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo...	OMIM:616030
Spermatogenic Failure 51	Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s...	OMIM:619177
Spermatogenic Failure 65	Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m...	OMIM:619712
Spermatogenic Failure 25	Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Male infert...	OMIM:617960
Spermatogenic Failure, X-Linked, 3	Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh...	OMIM:301059
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Abnormal spermatogenesis, Testicular microlithiasis, Decreased circulating dihydrotestosterone co...	OMIM:228300
Spermatogenic Failure 63	Decreased testicular size, Oligospermia, Male infertility, Reduced progressive sperm motility	OMIM:619689
Spermatogenic Failure 54	Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,...	OMIM:619379
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Primary amenorrhea, Decreased serum estradiol, Decreased testicular size, Decreased circulating g...	OMIM:614841
Spermatogenic Failure 56	Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh...	OMIM:619515
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone	Decreased circulating luteinizing hormone level, Congenital adrenal hypoplasia, Micropenis, Crypt...	OMIM:202150
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased t...	OMIM:614837
Spermatogenic Failure 35	Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Male infe...	OMIM:618341
Delayed Puberty, Self-Limited	Decreased circulating follicle stimulating hormone concentration, Delayed puberty, Decreased seru...	OMIM:619613
Male Infertility Due To Acephalic Spermatozoa	Abnormal sperm mid-piece morphology, Androgen insufficiency, Reduced sperm motility, Oligospermia...	ORPHA:529970
Spermatogenic Failure 40	Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Coiled sperm flagell...	OMIM:618664
Spermatogenic Failure 76	Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh...	OMIM:620084
Spermatogenic Failure 30	Spermatogenesis maturation arrest, Azoospermia, Cryptozoospermia, Male infertility, Cryptorchidism	OMIM:618110
Spermatogenic Failure 39	Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe...	OMIM:618643
Spermatogenic Failure 20	Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella	OMIM:617593
Spermatogenic Failure 47	Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm	OMIM:619102
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia	Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s...	OMIM:614839
Spermatogenic Failure 72	Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Irregular...	OMIM:619867
Spermatogenic Failure 34	Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s...	OMIM:618153
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo...	OMIM:614842
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s...	OMIM:614897
Spermatogenic Failure 58	Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog...	OMIM:619585
Spermatogenic Failure 15	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Abnormal circul...	OMIM:616950
Spermatogenic Failure 11	Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility	OMIM:615081
Spermatogenic Failure 10	Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility	OMIM:614822
Spermatogenic Failure 33	Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai...	OMIM:618152
Spermatogenic Failure 37	Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai...	OMIM:618429
Spermatogenic Failure 18	Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai...	OMIM:617576
Spermatogenic Failure 46	Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai...	OMIM:619095
Spermatogenic Failure 27	Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s...	OMIM:617965
Spermatogenic Failure 41	Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm	OMIM:618670
Bdv Syndrome	Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin...	OMIM:619326
Spermatogenic Failure 36	Abnormal sperm morphology, Male infertility	OMIM:618420
Spermatogenic Failure 43	Absent sperm flagella, Absent sperm axoneme central pair complex, Reduced sperm motility, Male in...	OMIM:618751
Spermatogenic Failure 19	Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:617592
Spermatogenic Failure 49	Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619144
Spermatogenic Failure 45	Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619094
Ovarian Dysgenesis 9	Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube...	OMIM:619665
Spermatogenic Failure 48	Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia	OMIM:619108
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Primary amenorrhea, Gonadoblastoma, Abnormality of female external genitalia, Decreased serum est...	ORPHA:168563
Spermatogenic Failure 1	Oligospermia, Cryptozoospermia, Male infertility	OMIM:258150
46,Xy Sex Reversal 11	Urogenital sinus anomaly, Primary amenorrhea, Abnormal internal genitalia, Aplasia of the uterus,...	OMIM:273250
Spermatogenic Failure 2	Azoospermia, Non-obstructive azoospermia, Oligospermia, Male infertility, Abnormal circulating te...	OMIM:108420
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Hypo...	OMIM:308700
Spermatogenic Failure 78	Microcephalic sperm head, Male infertility, Tapered sperm head	OMIM:620170
Kallmann Syndrome With Spastic Paraplegia	Decreased circulating follicle stimulating hormone concentration, Hypothalamic gonadotropin-relea...	OMIM:308750
Spermatogenic Failure 42	Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf...	OMIM:618745
Spermatogenic Failure 64	Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology	OMIM:619696
Pituitary Hormone Deficiency, Combined, 2	Hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hypogonadism, A...	OMIM:262600
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Abnormal sperm morphology, Male infertility, Immotile sperm	OMIM:608653
Spermatogenic Failure 24	Tapered sperm head, Short sperm flagella, Reduced sperm motility, Microcephalic sperm head, Coile...	OMIM:617959
Spermatogenic Failure 8	Oligospermia, Cryptozoospermia, Azoospermia	OMIM:613957
Leydig Cell Hypoplasia	Ambiguous genitalia, Breast aplasia, Increased circulating gonadotropin level, Primary amenorrhea...	ORPHA:755
Spermatogenic Failure 7	Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm	OMIM:612997
Testes, Rudimentary	Decreased testicular size, Hypergonadotropic hypogonadism, Hypoplastic male external genitalia	OMIM:273150
Spermatogenic Failure 22	Cryptozoospermia, Male infertility, Non-obstructive azoospermia	OMIM:617706
Spermatogenic Failure 70	Oligospermia, Reduced sperm motility, Azoospermia, Male infertility	OMIM:619828
Isochromosomy Yp	Primary gonadal insufficiency, Ambiguous genitalia, Decreased testicular size, Azoospermia, Male ...	ORPHA:98797
Deafness-Infertility Syndrome	Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motility, Male infertilit...	OMIM:611102
Spermatogenic Failure 50	Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size	OMIM:619145
Spermatogenic Failure 57	Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia, Decreased testi...	OMIM:619528
Chromosome Xq27.3-Q28 Duplication Syndrome	Sparse body hair, Hypogonadism, Decreased testicular size, Small for gestational age, Decreased s...	OMIM:300869
Hypogonadotropic Hypogonadism 25 With Anosmia	Primary amenorrhea, Decreased serum estradiol, Hypothalamic gonadotropin-releasing hormone defici...	OMIM:618841
Spermatogenic Failure 5	Multiflagellar spermatozoa, Male infertility, Macrocephalic sperm head	OMIM:243060
Ovarian Dysgenesis 5	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Primary amenorrhea, El...	OMIM:617690
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Globozoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular s...	ORPHA:399808
Premature Ovarian Failure 18	Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ...	OMIM:619203
X-Linked Intellectual Disability, Van Esch Type	Absence of secondary sex characteristics, Decreased testicular size, Type II diabetes mellitus, M...	ORPHA:163976
Spermatogenic Failure 32	Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia	OMIM:618115
Spermatogenic Failure 71	Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia	OMIM:619831
Hypogonadotropic Hypogonadism 27 Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Reduced response to gonadotropi...	OMIM:619755
Cone-Rod Dystrophy 1	Hypogonadism	OMIM:600624
Ring Chromosome Y Syndrome	Urogenital sinus anomaly, Ambiguous genitalia, Abnormal spermatogenesis, Gonadoblastoma, Ambiguou...	ORPHA:261529
Ovarian Dysgenesis 7	Delayed puberty, Hypoplasia of the uterus, Primary amenorrhea	OMIM:618117
Polyendocrine-Polyneuropathy Syndrome	Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Anterio...	ORPHA:453533
Ovarian Dysgenesis 2	Secondary amenorrhea, Premature ovarian insufficiency, Delayed puberty, Hypergonadotropic hypogon...	OMIM:300510
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin...	ORPHA:90793
Premature Ovarian Failure 7	Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating luteinizing hormone l...	OMIM:612964
Isolated Follicle Stimulating Hormone Deficiency	Female hypogonadism, Primary amenorrhea, Gonadotropin deficiency, Decreased serum estradiol, Decr...	ORPHA:52901
X-Linked Intellectual Disability, Cilliers Type	Absence of secondary sex characteristics, Decreased testicular size, Male hypogonadism, Increased...	ORPHA:163971
Obesity Due To Congenital Leptin Deficiency	Primary amenorrhea, Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex charact...	ORPHA:66628
Spermatogenic Failure 14	Azoospermia, Late spermatogenesis maturation arrest, Abnormal prolactin level, Male infertility, ...	OMIM:615842
Spermatogenic Failure 77	Azoospermia, Oligospermia, Male infertility, Abnormal circulating testosterone concentration, Abn...	OMIM:620103
Spermatogenic Failure 28	Decreased testicular size, Decreased serum testosterone concentration, Male infertility, Elevated...	OMIM:618086
Persistent Mullerian Duct Syndrome, Types I And Ii	Bilateral cryptorchidism, Male infertility, Decreased cirrculating antimullerian hormone circulation	OMIM:261550
Spermatogenic Failure 21	Infertility, Reduced sperm motility, Acephalic spermatozoa	OMIM:617644
Spermatogenic Failure 31	Male infertility, Acephalic spermatozoa	OMIM:618112
Spermatogenic Failure 53	Male infertility, Tapered sperm head	OMIM:619258
Spermatogenic Failure 26	Male infertility, Acephalic spermatozoa	OMIM:617961
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Absence of pubertal development, Hypergonadotropic hypogonadism, Primar...	OMIM:618078
Obesity Due To Leptin Receptor Gene Deficiency	Primary amenorrhea, Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex charact...	ORPHA:179494
Perrault Syndrome 3	Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone...	OMIM:614129
Spermatogenic Failure 16	Male infertility, Reduced sperm motility, Acephalic spermatozoa	OMIM:617187
Spermatogenic Failure 44	Male infertility, Reduced sperm motility, Acephalic spermatozoa	OMIM:619044
Spermatogenic Failure 38	Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c...	OMIM:618433
46,Xy Sex Reversal 3	Ambiguous genitalia, Sex reversal, Penoscrotal hypospadias, Elevated circulating luteinizing horm...	OMIM:612965
46,Xy Partial Gonadal Dysgenesis	Ambiguous genitalia, Gonadoblastoma, Adrenal insufficiency, Increased circulating gonadotropin le...	ORPHA:251510
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Abnormal circulating corticosterone level, Primary amenorrhea, Hypoplasia of the uterus, Primary ...	ORPHA:90796
49,Xxxyy Syndrome	Primary gonadal insufficiency, Ambiguous genitalia, Abnormality of the testis size, External geni...	ORPHA:261534
Isochromosomy Yq	Gonadal tissue inappropriate for external genitalia or chromosomal sex, Primary gonadal insuffici...	ORPHA:98798
Normosmic Congenital Hypogonadotropic Hypogonadism	Female hypogonadism, Primary amenorrhea, Impotence, Absence of secondary sex characteristics, Dec...	ORPHA:432
Premature Ovarian Failure 6	Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ...	OMIM:612310
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism	Decreased circulating follicle stimulating hormone concentration, Delayed puberty, Cryptorchidism...	OMIM:619761
Female Infertility Due To Oocyte Meiotic Arrest	Abnormal spermatogenesis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, A...	ORPHA:488191
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome	Hypogonadotropic hypogonadism	ORPHA:1180
Pituicytoma	Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t...	ORPHA:251623
Perrault Syndrome 4	Decreased serum estradiol, Bicornuate uterus, Premature ovarian insufficiency, Secondary amenorrh...	OMIM:615300
Spermatogenic Failure, X-Linked, 2	Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia	OMIM:309120
Estrogen Resistance	Increased serum estradiol, Hyperinsulinemia, Breast aplasia, Delayed puberty, Polycystic ovaries,...	OMIM:615363
Hyperprolactinemia	Increased circulating prolactin concentration, Female infertility, Menorrhagia, Oligomenorrhea	OMIM:615555
Syndromic X-Linked Intellectual Disability 7	Sparse body hair, Hypogonadism, Hypoplasia of penis, Cryptorchidism, Obesity, Micropenis	ORPHA:85274
Spermatogenic Failure, X-Linked, 4	Azoospermia, Abnormal prolactin level, Male infertility, Elevated circulating luteinizing hormone...	OMIM:301077
Spermatogenic Failure 62	Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia	OMIM:619673
Spermatogenic Failure 61	Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia	OMIM:619672
Spermatogenic Failure 12	Abnormal male germ cell morphology, Infertility, Azoospermia	OMIM:615413
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia	Primary amenorrhea, Microphallus, Decreased testicular size, Absence of pubertal development, Cry...	OMIM:614840
Spermatogenic Failure 73	Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia	OMIM:619878
Spermatogenic Failure 59	Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia	OMIM:619645
Spermatogenic Failure 60	Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia	OMIM:619646
Spermatogenic Failure 74	Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia	OMIM:619937
Spermatogenic Failure 4	Male infertility, Azoospermia	OMIM:270960
46,Xx Testicular Disorder Of Sex Development	Male hypogonadism, Ambiguous genitalia, Polycystic ovaries, Decreased testicular size	ORPHA:393
Ovarian Dysgenesis 10	Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube...	OMIM:619834
Premature Ovarian Failure 13	Female infertility, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Amen...	OMIM:617442
Testicular Agenesis	Urogenital sinus anomaly, Ambiguous genitalia, Absent external genitalia, Urethrovaginal fistula,...	ORPHA:325124
Complete Androgen Insensitivity Syndrome	Abnormal uterine cervix morphology, Absent pubic hair, Blind vagina, Primary amenorrhea, Testicul...	ORPHA:99429
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Ambiguous genitalia,...	ORPHA:90791
Gonadoblastoma	Ambiguous genitalia, Increased serum testosterone level, Gonadal dysgenesis with female appearanc...	ORPHA:206484
Premature Ovarian Failure 10	Hypothyroidism, Premature ovarian insufficiency, Decreased testicular size, Azoospermia, Hypoplas...	OMIM:612885
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Abnormal spermatogenesis, Obstructive azoospermia, Decreased testicular size, Azoospermia, Increa...	ORPHA:399805
Perrault Syndrome 6	Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea...	OMIM:617565
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Decreased testicular size, Abnormality of the ovary, Hypogonadism	ORPHA:1875
49,Xyyyy Syndrome	Primary gonadal insufficiency, Abnormality of the testis size, External genital hypoplasia, Decre...	ORPHA:99330
Estrogen Resistance Syndrome	Hyperinsulinemia, Enlarged polycystic ovaries, Absence of secondary sex characteristics, Abnormal...	ORPHA:785
Prader-Willi syndrome (Type 1)	Hypogonadism, Truncal obesity	DECIPHER:14
Prader-Willi Syndrome (Type 2)	Hypogonadism, Truncal obesity	DECIPHER:53
Müllerian Aplasia And Hyperandrogenism	Increased serum testosterone level, Abnormality of the ovary, Hypoplasia of the uterus, Primary a...	ORPHA:247768
Diethylstilbestrol Syndrome	Decreased fertility in females, Abnormal testis morphology, Premature ovarian insufficiency, Vagi...	ORPHA:1916
46,Xx Sex Reversal 2	Sex reversal, Bifid scrotum, Hypoplasia of the vagina, Perineal hypospadias, True hermaphroditism...	OMIM:278850
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	Adrenogenital syndrome, Increased serum testosterone level, Decreased circulating aldosterone lev...	OMIM:202010
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Impotence, Small pituitary gland, Increased circulating gonadotropin level, Primary amenorrhea, P...	ORPHA:2232
Oocyte/Zygote/Embryo Maturation Arrest 9	Female infertility, Oocyte arrest at metaphase I	OMIM:619011
Premature Ovarian Failure 8	Decreased serum estradiol, Premature ovarian insufficiency, Elevated circulating follicle stimula...	OMIM:615723
Testicular Anomalies With Or Without Congenital Heart Disease	Ambiguous genitalia, Abnormality of thyroid physiology, Microphallus, Perineal hypospadias, Corpu...	OMIM:615542
Leptin Deficiency Or Dysfunction	Hypogonadism, Decreased testicular size, Decreased serum leptin, Primary amenorrhea, Obesity, Mic...	OMIM:614962
Premature Ovarian Failure 15	Irregular menstruation, Secondary amenorrhea, Decreased cirrculating antimullerian hormone circul...	OMIM:618096
Premature Ovarian Failure 2B	Premature ovarian insufficiency, Delayed puberty, Female infertility, Primary amenorrhea	OMIM:300604
Premature Ovarian Failure 9	Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating luteinizing hormon...	OMIM:615724
Cryptorchidism, Unilateral Or Bilateral	Unilateral cryptorchidism, Cryptorchidism	OMIM:219050
Premature Ovarian Failure 5	Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ovary, Reduced antral fo...	OMIM:611548
Partial Androgen Insensitivity Syndrome	Ambiguous genitalia, Male sexual dysfunction, Blind vagina, Primary amenorrhea, Increased circula...	ORPHA:90797
Familial Male-Limited Precocious Puberty	Macroorchidism, Precocious puberty, Long penis, Oligospermia, Male infertility	ORPHA:3000
Premature Ovarian Failure 1	Irregular menstruation, Increased circulating gonadotropin level, Premature ovarian insufficiency	OMIM:311360
Spermatogenic Failure 52	Male infertility, Azoospermia	OMIM:619202
Spermatogenic Failure, Y-Linked, 2	Male infertility, Azoospermia	OMIM:415000
Spermatogenic Failure 23	Male infertility, Azoospermia	OMIM:617707
Hypogonadism, Male	Male hypogonadism, Testicular atrophy, Hypospadias, Micropenis	OMIM:241100
Bardet-Biedl Syndrome 11	Obesity, Hypogonadism	OMIM:615988
Boucher-Neuhauser Syndrome	Hypogonadotropic hypogonadism, Decreased circulating gonadotropin concentration	OMIM:215470
7P22.1 Microduplication Syndrome	Cryptorchidism	ORPHA:314034
Bardet-Biedl Syndrome 5	External genital hypoplasia, Obesity, Micropenis, Hypogonadism	OMIM:615983
Ovarian Dysgenesis 3	Aplasia of the ovary, Delayed puberty, Female infertility, Elevated circulating luteinizing hormo...	OMIM:614324
Spermatogenic Failure 29	Male infertility, Immotile sperm, Non-obstructive azoospermia	OMIM:618091
Young Syndrome	Decreased fertility, Obstructive azoospermia	ORPHA:3471
Frasier Syndrome	Gonadoblastoma, Renal insufficiency, Decreased serum estradiol, Nephrotic syndrome, Ambiguous gen...	ORPHA:347
Satoyoshi Syndrome	Abnormality of the ovary, Abnormality of the uterus, Hypoplasia of the ovary, Nephrogenic diabete...	ORPHA:3130
Familial Hyperprolactinemia	Female hypogonadism, Hemorrhagic ovarian cyst, Infertility, Menorrhagia, Oligomenorrhea, Amenorrhea	ORPHA:397685
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	Male hypogonadism, Azoospermia	OMIM:241000
Xq27.3Q28 Duplication Syndrome	Sparse body hair, Hypogonadism, Premature ovarian insufficiency, Decreased testicular size, Failu...	ORPHA:261483
Caudal Appendage-Deafness Syndrome	Cryptorchidism	ORPHA:1123
Spermatogenic Failure 6	Globozoospermia, Male infertility, Decreased acrosin in sperm head	OMIM:102530
Asherman Syndrome	Decreased fertility in females, Secondary amenorrhea, Infertility, Abnormality of the menstrual c...	ORPHA:137686
Premature Ovarian Failure 16	Premature ovarian insufficiency, Elevated circulating follicle stimulating hormone level, Reduced...	OMIM:618723
Premature Ovarian Failure 3	Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea	OMIM:608996
Deafness-Infertility Syndrome	Male infertility, Azoospermia	ORPHA:94064
Premature Ovarian Failure 17	Decreased serum estradiol, Premature ovarian insufficiency, Elevated circulating luteinizing horm...	OMIM:619146
Endometriosis, Susceptibility To, 1	Decreased fertility, Dysmenorrhea, Endometriosis	OMIM:131200
Testicular Regression Syndrome	Decreased fertility, Ambiguous genitalia, Decreased testicular size, Abnormal male internal genit...	ORPHA:983
Invasive Mole	Menometrorrhagia	ORPHA:99925
Oocyte/Zygote/Embryo Maturation Arrest 2	Female infertility, Oocyte arrest at metaphase I	OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4	Female infertility, Oocyte arrest at metaphase I	OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 10	Female infertility	OMIM:619176
Spermatogenic Failure 13	Azoospermia	OMIM:615841
Deleted in azoospermia	Azoospermia	OMIM:400003
Oocyte/Zygote/Embryo Maturation Arrest 8	Female infertility	OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13	Female infertility	OMIM:620154
Spinocerebellar Ataxia Type 32	Testicular atrophy, Male infertility, Azoospermia	ORPHA:276183
Spinocerebellar Ataxia 32	Testicular atrophy, Infertility, Azoospermia	OMIM:613909
45,X/46,Xy Mixed Gonadal Dysgenesis	Hypothyroidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Increased circu...	ORPHA:1772
Oocyte/Zygote/Embryo Maturation Arrest 12	Female infertility	OMIM:619697
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cryptorchidism	OMIM:274205
Woodhouse-Sakati Syndrome	Hypothyroidism, Hyperinsulinemia, Abnormal spermatogenesis, Decreased response to growth hormone ...	ORPHA:3464
Autosomal Recessive Spastic Paraplegia Type 26	Premature ovarian insufficiency, Decreased serum testosterone concentration	ORPHA:101006
46,Xx Gonadal Dysgenesis	Decreased fertility, Ambiguous genitalia, Decreased serum estradiol, Secondary amenorrhea, Premat...	ORPHA:243
Androgen Insensitivity Syndrome	Ambiguous genitalia, male, Abnormality of the uterus, Delayed puberty, Male infertility, Male pse...	ORPHA:754
Hypergonadotropic Hypogonadism And Partial Alopecia	Streak ovary, Hypergonadotropic hypogonadism	OMIM:241090
Hydatidiform Mole, Recurrent, 4	Female infertility	OMIM:618432
Spastic Paraparesis And Deafness	Hypogonadism	OMIM:312910
Premature Ovarian Failure 19	Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea	OMIM:619245
Bardet-Biedl Syndrome 6	External genital hypoplasia, Renal cyst, Diabetes mellitus, Vaginal atresia, Hypospadias, Obesity	OMIM:605231
Ovarian Fibrothecoma	Increased serum testosterone level, Gonadal calcification, Abnormal circulating hormone concentra...	ORPHA:314478
Bardet-Biedl Syndrome 10	Renal cyst, Renal insufficiency, Obesity, Hypogonadism	OMIM:615987
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy	Gonadal dysgenesis, Hypergonadotropic hypogonadism, Primary amenorrhea	OMIM:607080
Woodhouse-Sakati Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Premature ovarian insufficiency, ...	OMIM:241080
Polyembryoma	Irregular menstruation, Isosexual precocious puberty, Macroorchidism, Increased serum testosteron...	ORPHA:180229
Premature Ovarian Failure 20	Female infertility, Elevated circulating luteinizing hormone level, Elevated circulating follicle...	OMIM:619938
Hypogonadism-Cataract Syndrome	Male hypogonadism, Infertility, Elevated circulating follicle stimulating hormone level, Hypogona...	OMIM:240950
Pituitary Hormone Deficiency, Combined, 6	Decreased circulating follicle stimulating hormone concentration, Decreased circulating ACTH leve...	OMIM:613986
Functioning Gonadotropic Adenoma	Impotence, Anterior hypopituitarism, Decreased female libido, Increased circulating gonadotropin ...	ORPHA:91348
46,Xy Sex Reversal 7	Abnormal epididymis morphology, Gonadoblastoma, Sex reversal, Gonadal dysgenesis, male, Hypoplasi...	OMIM:233420
Ane Syndrome	Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Abnormal re...	ORPHA:157954
Congenital Bilateral Absence Of Vas Deferens	Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia	ORPHA:48
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type	Thick eyebrow, Obesity, Cryptorchidism	OMIM:309585
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Ambiguous genitalia, Premature thelarche, Precocious puberty, Ambiguous genitalia, female, Decrea...	ORPHA:90795
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Gonadoblastoma, Renal insufficiency, Abnormality of the uterus, Hypospadias, Nephropathy, Cryptor...	OMIM:194072
Methemoglobinemia And Ambiguous Genitalia	Scrotal hypospadias, Ambiguous genitalia, Decreased circulating dehydroepiandrosterone-sulfate co...	OMIM:250790
Seckel Syndrome 7	Central hypothyroidism, Hypoplasia of the uterus, Primary amenorrhea	OMIM:614851
Mullerian Aplasia And Hyperandrogenism	Increased circulating dehydroepiandrosterone-sulfate concentration, Abnormal external genitalia, ...	OMIM:158330
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Bicornuate uterus, Azoospermia, Unilateral renal agenesis, Ectopic kidney, Cleft palate, Hypoplas...	OMIM:601076
46,Xy Sex Reversal 4	Hydronephrosis, High palate, Sex reversal, Hypoplastic labia majora, Agonadism, Anal atresia, Ure...	OMIM:154230
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Primary amenorrhea, Decreased testicular size, Sparse axillary hair, Infertility, Sparse pubic ha...	OMIM:146110
Aarskog-Scott Syndrome	Shawl scrotum, Bilateral cryptorchidism, Widow's peak, Testicular atrophy, Delayed puberty, Failu...	OMIM:305400
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Hypergonadotropic hypogonadism	ORPHA:1014
Spermatogenic Failure 75	Early spermatogenesis maturation arrest, Elevated circulating follicle stimulating hormone level,...	OMIM:619949
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency	Decreased fertility, Urogenital sinus anomaly, Ambiguous genitalia, Perineal hypospadias, Bifid s...	ORPHA:753
Ovarian Dysgenesis 4	Elevated circulating follicle stimulating hormone level, Decreased serum estradiol, Primary ameno...	OMIM:616185
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hyperinsulinemia, Secondary amenorrhea, Decreased testicular size, Type II diabetes mellitus, Pol...	ORPHA:3085
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Decreased testicular size, Diabetes mellitus, Absence of pubertal development, Cryptorchidism, Pr...	OMIM:610628
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Decreased fertility, Hypogonadism, Abnormal testis morphology, Abnormal hair quantity, Low poster...	ORPHA:2233
Kennedy Disease	Decreased fertility, Testicular atrophy, Erectile dysfunction, Type II diabetes mellitus	ORPHA:481
Spastic Paraparesis-Deafness Syndrome	Hypogonadism	ORPHA:2815
Bardet-Biedl Syndrome 4	Hypogonadism, External genital hypoplasia, Renal cyst, Cryptorchidism, Obesity	OMIM:615982
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
Amed Syndrome, Digenic	Hypoplasia of the uterus, Adrenal hypoplasia	OMIM:619151
Hydatidiform Mole, Recurrent, 3	Female infertility	OMIM:618431
Pseudovaginal Perineoscrotal Hypospadias	Perineal hypospadias, Bifid scrotum, Ambiguous genitalia, male, Cryptorchidism, Abnormality of th...	OMIM:264600
46,Xx Sex Reversal 5	Urogenital sinus anomaly, Ambiguous genitalia, Increased serum testosterone level	OMIM:618901
Perrault Syndrome 2	Streak ovary, Amenorrhea	OMIM:614926
47,Xyy Syndrome	Macroorchidism, Increased serum testosterone level, Azoospermia, Increased circulating gonadotrop...	ORPHA:8
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hypogonadism, Decreased testicular size, Failure to thrive, Alopecia of scalp, Decreased serum te...	OMIM:201100
Aromatase Deficiency	Enlarged polycystic ovaries, Ambiguous genitalia, female, Type II diabetes mellitus, Eunuchoid ha...	ORPHA:91
Cataract-Deafness-Hypogonadism Syndrome	Hypogonadism	ORPHA:1383
Symptomatic Form Of Hemochromatosis Type 1	Hypothyroidism, Weight loss, Infertility, Erectile dysfunction, Testicular atrophy, Diabetes mell...	ORPHA:465508
Premature Ovarian Failure 14	Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone...	OMIM:618014
46,Xy Sex Reversal 1	Ambiguous genitalia, Abnormality of female external genitalia, Gonadoblastoma, Sex reversal, Abse...	OMIM:400044
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Decreased fertility, Sparse body hair, Hypogonadism, Decreased testicular size, Type II diabetes ...	ORPHA:2234
Hao-Fountain Syndrome	Micropenis, Cryptorchidism, Premature adrenarche	OMIM:616863
Premature Ovarian Failure 11	Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Secondary amenorrhea	OMIM:616946
Gordon Holmes Syndrome	Secondary amenorrhea, Oligomenorrhea, Absence of pubertal development, Primary amenorrhea, Hypogo...	OMIM:212840
Osteosclerosis With Ichthyosis And Premature Ovarian Failure	Premature ovarian insufficiency, Hypoplasia of the ovary	OMIM:609993
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Decreased testicular size, Type I diabetes mellitus, Breast aplasia, Eunuchoid habitus, Sparse pu...	ORPHA:3044
Ovarian Dysgenesis 1	Increased circulating gonadotropin level, Gonadal dysgenesis, Primary amenorrhea	OMIM:233300
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Decreased fertility, Absence of secondary sex characteristics, Anterior hypopituitarism, Hypothal...	ORPHA:2235
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	Aplasia/Hypoplasia of the testes, Hypoplasia of penis, Obesity, Cryptorchidism	ORPHA:3055
Acromesomelic Dysplasia 3	Elevated circulating luteinizing hormone level, Hypergonadotropic hypogonadism, Primary amenorrhe...	OMIM:609441
Hypergonadotropic Hypogonadism-Cataract Syndrome	Decreased fertility, Absence of secondary sex characteristics, Increased circulating gonadotropin...	ORPHA:2410
Glucocorticoid Resistance, Generalized	Irregular menstruation, Increased serum testosterone level, Increased circulating cortisol level,...	OMIM:615962
Hepatic Adenomas, Familial	Polycystic ovaries, Maturity-onset diabetes of the young	OMIM:142330
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin...	ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin...	ORPHA:289548
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Ambiguous genitalia, Absent scrotum, Elevated circulating 17-hydroxyprogesterone concentration, S...	OMIM:201810
Bardet-Biedl Syndrome 16	Hypogonadism, External genital hypoplasia, Stage 5 chronic kidney disease, Renal cyst, Renal insu...	OMIM:615993
Prolactin Deficiency, Isolated	Irregular menstruation, Infertility, Reduced circulating prolactin concentration	OMIM:264110
Spermatogenic Failure 17	Male infertility	OMIM:617214
Progeria-Short Stature-Pigmented Nevi Syndrome	Alopecia, Decreased serum estradiol, Premature ovarian insufficiency, Small for gestational age, ...	ORPHA:2959
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno...	ORPHA:98754
Cortisone Reductase Deficiency 1	Alopecia, Precocious puberty, Infertility, Hirsutism, Oligomenorrhea, Obesity	OMIM:604931
Bardet-Biedl Syndrome	Multicystic kidney dysplasia, Medial flaring of the eyebrow, Hypogonadism, Nephrotic syndrome, Hy...	ORPHA:110
Uterine Anomalies	Abnormality of the uterus, Bicornuate uterus	OMIM:192000
Azoospermia, Obstructive, With Nephrolithiasis	Spermatocele, Male infertility, Obstructive azoospermia	OMIM:301060
N Syndrome	Hypospadias, Cryptorchidism	ORPHA:2608
46,Xy Complete Gonadal Dysgenesis	Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis	ORPHA:242
Premature Ovarian Failure 2A	Premature ovarian insufficiency, Elevated circulating follicle stimulating hormone level, Elevate...	OMIM:300511
Double Uterus-Hemivagina-Renal Agenesis Syndrome	Uterus didelphys, Metrorrhagia, Partial vaginal septum, Dyspareunia, Abnormal uterine cervix morp...	ORPHA:3411
Morbid Obesity And Spermatogenic Failure	Oligospermia, Infertility, Azoospermia, Type II diabetes mellitus	OMIM:615703
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
Progesterone Resistance	Female infertility	OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 15	Female infertility	OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1	Female infertility	OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3	Female infertility	OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 5	Female infertility	OMIM:617996
Mehmo Syndrome	External genital hypoplasia, Hypoplasia of penis, Diabetes mellitus, Cryptorchidism, Obesity, Mic...	ORPHA:85282
Plin1-Related Familial Partial Lipodystrophy	Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Abnormal circulating hormone co...	ORPHA:280356
Leydig Cell Hypoplasia, Type I	Increased circulating gonadotropin level, Hypergonadotropic hypogonadism	OMIM:238320
Bardet-Biedl Syndrome 12	Hypogonadism, Hydroureter, Hydrometrocolpos, Cystic renal dysplasia, Vaginal atresia, Obesity, Hy...	OMIM:615989
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno...	ORPHA:98793
46,Xx Ovotesticular Disorder Of Sex Development	Decreased fertility, Urogenital sinus anomaly, Ambiguous genitalia, Bifid scrotum, Abnormal male ...	ORPHA:2138
Blepharophimosis, Ptosis, And Epicanthus Inversus	Irregular menstruation, High palate, Premature ovarian insufficiency, Increased circulating gonad...	OMIM:110100
Polyendocrine-Polyneuropathy Syndrome	Central hypothyroidism, Hypogonadism	OMIM:616113
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno...	ORPHA:177904
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Decreased fertility, Decreased circulating progesterone, Decreased serum estradiol, Streak ovary,...	ORPHA:572333
Oliver-Mcfarlane Syndrome	Alopecia, Decreased response to growth hormone stimulation test, Small for gestational age, Long ...	OMIM:275400
Image Syndrome	Hypogonadism, Hypospadias, Cryptorchidism, Adrenal hypoplasia, Hydronephrosis	ORPHA:85173
Satoyoshi Syndrome	Malabsorption, Amenorrhea, Hypoplasia of the uterus	OMIM:600705
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Decreased circulating follicle stimulating hormone concentration, Anterior pituitary hypoplasia, ...	ORPHA:226307
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno...	ORPHA:177901
Meningioma	Enlarged pituitary gland, Decreased circulating follicle stimulating hormone concentration, Incre...	ORPHA:2495
Xp22.3 Microdeletion Syndrome	Hypogonadotropic hypogonadism, Decreased fertility, Polycystic ovaries, Secondary amenorrhea	ORPHA:1643
Post-Traumatic Pituitary Deficiency	Decreased response to growth hormone stimulation test, Decreased testicular size, Decreased circu...	ORPHA:95619
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency	Hypothyroidism, Ambiguous genitalia, Infertility, Male pseudohermaphroditism, Cryptorchidism, Hyp...	ORPHA:752
Androgen Insensitivity Syndrome	Sparse axillary hair, Labial hypoplasia, Sparse pubic hair, Absent facial hair, Elevated circulat...	OMIM:300068
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Ambiguous genitalia, Decreased circulating aldosterone level, Ambiguous genitalia, female, Decrea...	ORPHA:90794
Spastic Paraplegia-Precocious Puberty Syndrome	Precocious puberty in males, Hyperplasia of the Leydig cells	ORPHA:2826
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	Cleft palate, Cryptorchidism	ORPHA:1074
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	External genital hypoplasia, Obesity, Hypogonadism, Cryptorchidism	ORPHA:363741
Retinitis Pigmentosa	Hyperinsulinemia, Hypogonadism, Abnormal testis morphology, Type II diabetes mellitus, Hypoplasia...	ORPHA:791
Young Syndrome	Azoospermia	OMIM:279000
Hypothyroidism, Congenital, Nongoitrous, 8	Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu...	OMIM:301033
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Hypogonadism	OMIM:254000
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia	Hypogonadotropic hypogonadism	OMIM:615269
Adenohypophysitis	Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def...	ORPHA:95512
Growth Hormone Insensitivity Syndrome	Diabetes insipidus, Hypogonadism, Type II diabetes mellitus, Hypoplasia of penis, Fine hair, Diab...	ORPHA:181393
Placental Site Trophoblastic Tumor	Metrorrhagia, Amenorrhea	ORPHA:99928
Biemond Syndrome Type 2	Hypogonadism, Delayed puberty, Hypospadias, Hypogonadotropic hypogonadism, Obesity	ORPHA:141333
Prader-Willi-Like Syndrome	Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno...	ORPHA:398073
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Decreased fertility, Testicular atrophy	OMIM:313200
Adrenal Hypoplasia, Congenital	Precocious puberty, Decreased circulating aldosterone level, Adrenal insufficiency, Decreased cir...	OMIM:300200
Renal Cysts And Diabetes Syndrome	Pancreatic hypoplasia, Atretic vas deferens, Bicornuate uterus, Stage 5 chronic kidney disease, G...	OMIM:137920
Prader-Willi Syndrome	Primary amenorrhea, Central hypothyroidism, Precocious puberty, Decreased response to growth horm...	ORPHA:739
Non-Functioning Pituitary Adenoma	Impotence, Anterior hypopituitarism, Adrenal insufficiency, Decreased female libido, Increased ci...	ORPHA:91349
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy	Irregular menstruation, Alopecia, Precocious puberty, Hyperthyroidism, Abnormal testis morphology...	ORPHA:457059
Fowler Urethral Sphincter Dysfunction Syndrome	Urinary incontinence, Urinary retention, Dysuria, Abnormality of the ovary, Polycystic ovaries, H...	ORPHA:2795
Polycystic Ovary Syndrome 1	Enlarged polycystic ovaries, Hirsutism, Oligomenorrhea, Obesity, Amenorrhea	OMIM:184700
Bardet-Biedl Syndrome 2	External genital hypoplasia, Diabetes mellitus, Obesity, Hypogonadism	OMIM:615981
Bowen-Conradi Syndrome	Cryptorchidism	ORPHA:1270
Hydatidiform Mole	Menometrorrhagia, Hyperthyroidism, Enlarged uterus	ORPHA:99927
Renal Hypodysplasia/Aplasia 1	Vaginal atresia, Bicornuate uterus, Proteinuria, Primary amenorrhea	OMIM:191830
Vaginal Atresia	Imperforate hymen, Uterus didelphys, Bicornuate uterus, Transverse vaginal septum, Abnormality of...	ORPHA:65681
Panhypophysitis	Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def...	ORPHA:95513
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia	Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptorchidism, Decreased testicular size	OMIM:614858
Central Precocious Puberty	Isosexual precocious puberty, Abnormality of secondary sexual hair, Premature thelarche, Overgrow...	ORPHA:759
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome	Cryptorchidism	ORPHA:1568
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Ectopic kidney, Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus	ORPHA:2578
Precocious Puberty, Male-Limited	Decreased testicular size, Precocious puberty in males	OMIM:176410
Bardet-Biedl Syndrome 19	Hypogonadism, External genital hypoplasia, Renal hypoplasia, Renal insufficiency, Obesity, Hydron...	OMIM:615996
Hyperostosis Frontalis Interna	Irregular menstruation, Diabetes mellitus, Increased circulating prolactin concentration	OMIM:144800
Tetragametic Chimerism	Abnormality of the scrotum, Ambiguous genitalia, Abnormal testis morphology, Bifid scrotum, Perin...	ORPHA:199310
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Obesity, Hypogonadism, Cryptorchidism	OMIM:601794
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Macroorchidism, Abnormality of female external genitalia, Increased circulating ACTH level, Decre...	ORPHA:90790
Mental Retardation Syndrome, Belgian Type	Diabetes mellitus, Hypergonadotropic hypogonadism	OMIM:249599
Crandall Syndrome	Sparse body hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Pili torti, Hypogonadism, Abnormal...	ORPHA:202
Prader-Willi Syndrome Due To Imprinting Mutation	Hypogonadotropic hypogonadism, Hypopigmentation of hair, Obesity, External genital hypoplasia	ORPHA:177910
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
Bardet-Biedl Syndrome 8	Hypospadias, Obesity, Hypogonadism	OMIM:615985
Deafness, Conductive, With Malformed External Ear	Hypogonadism	OMIM:221300
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Polycystic ovaries, Precocious puberty, Hypergonadotropic hypogonadism	ORPHA:2229
Polydactyly-Myopia Syndrome	Cryptorchidism	ORPHA:2917
Borjeson-Forssman-Lehmann Syndrome	Delayed puberty, Cryptorchidism, Hypoplasia of the prostate, Obesity, Micropenis	OMIM:301900
X-Linked Intellectual Disability, Siderius Type	Decreased testicular size, Cryptorchidism	ORPHA:85287
Precocious Puberty, Central, 2	Premature thelarche, Premature pubarche	OMIM:615346
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Precocious puberty, Increased circulating ACTH level, Decreased circulating cortisol level, Renal...	OMIM:614736
Bardet-Biedl Syndrome 22	Obesity, Large for gestational age, Hypogonadism	OMIM:617119
Microduplication Xp11.22P11.23 Syndrome	Precocious puberty, Obesity	ORPHA:217377
Gestational Choriocarcinoma	Metrorrhagia	ORPHA:99926
Hydrocephalus-Obesity-Hypogonadism Syndrome	Azoospermia, Sparse facial hair, Absent facial hair, Hypergonadotropic hypogonadism, Low posterio...	ORPHA:2183
Isolated Glycerol Kinase Deficiency	Adrenocortical hypoplasia, Cryptorchidism	ORPHA:408
Meckel Syndrome 12	Bifid uvula, Ureteral hypoplasia, Vaginal atresia, Renal hypoplasia, Hypoplasia of the uterus	OMIM:616258
Bardet-Biedl Syndrome 1	Hypogonadism, Decreased testicular size, Abnormality of the ovary, Diabetes mellitus, Vaginal atr...	OMIM:209900
Perrault Syndrome 5	Hypergonadotropic hypogonadism, Gonadal dysgenesis, Primary amenorrhea	OMIM:616138
Endocardial Fibroelastosis	Anterior hypopituitarism, Hypoplasia of penis, Cryptorchidism	ORPHA:2022
Generalized Glucocorticoid Resistance Syndrome	Ambiguous genitalia, Precocious puberty, Decreased circulating aldosterone level, Increased circu...	ORPHA:786
Wilson-Turner Syndrome	Hypogonadotropic hypogonadism, Truncal obesity, Thick eyebrow, Cryptorchidism	ORPHA:3459
Mayer-Rokitansky-Kuster-Hauser Syndrome	Aplasia of the vagina, Amenorrhea, Hypoplasia of the uterus	OMIM:277000
Microcephaly 20, Primary, Autosomal Recessive	Ureteral agenesis, Vaginal atresia, Renal hypoplasia, Hypoplasia of the uterus	OMIM:617914
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cleft palate, Cryptorchidism	OMIM:612370
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia	Primary amenorrhea, High palate, Small pituitary gland, Delayed puberty, Cryptorchidism, Hypogona...	OMIM:612702
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Ambiguous genitalia, Vesicovaginal fistula, Adrenal insufficiency, Decreased circulating renin le...	OMIM:201750
Bardet-Biedl Syndrome 7	Obesity, Hypogonadism	OMIM:615984
Autoinflammatory Disease, Familial, Behcet-Like 3	Vaginal mucosal ulceration	OMIM:618287
Maternal Uniparental Disomy Of Chromosome 6	Increased serum testosterone level, Hydrocele testis, Congenital adrenal hyperplasia, Cleft palat...	ORPHA:96181
Kallmann Syndrome	Decreased fertility, Anterior hypopituitarism, Decreased testicular size, Hypothalamic gonadotrop...	ORPHA:478
Autosomal Recessive Spastic Paraplegia Type 46	Decreased testicular size, Infertility, Reduced sperm motility, Abnormal sperm head morphology, A...	ORPHA:320391
Myoectodermal Gonadal Dysgenesis Syndrome	Pyloric stenosis, Hypoplastic labia majora, Anal atresia, Clitoral hypoplasia, Unilateral renal a...	OMIM:618419
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia	Hypogonadotropic hypogonadism	OMIM:615266
Androgen Insensitivity, Partial	Hypogonadism, Bifid scrotum, Perineal hypospadias, Infertility, Azoospermia, Male pseudohermaphro...	OMIM:312300
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome	Increased size of the clitoris, Ambiguous genitalia, female, Abnormality of the ovary, Abnormalit...	ORPHA:2975
Laurence-Moon Syndrome	Type II diabetes mellitus, Hypoplasia of penis, Cryptorchidism, Renal insufficiency, Obesity, Dis...	ORPHA:2377
Rudiger Syndrome	Ureterovesical stenosis, Ovarian cyst, Micropenis, Bicornuate uterus	OMIM:268650
3Q13 Microdeletion Syndrome	Hypoplasia of penis, Cryptorchidism	ORPHA:1621
Aromatase Deficiency	Female pseudohermaphroditism, Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea	OMIM:613546
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	High palate, Delayed puberty, Decreased response to growth hormone stimulation test, Hypoplasia o...	OMIM:615866
Isolated Splenogonadal Fusion	Abnormal epididymis morphology, Abnormality of the scrotum, Testicular mass, Bilateral cryptorchi...	ORPHA:457083
Gordon Syndrome	Cleft palate, High palate, Cryptorchidism	ORPHA:376
Leukodystrophy, Hypomyelinating, 21	Hypogonadotropic hypogonadism, Cryptorchidism	OMIM:619310
Renal, Genital, And Middle Ear Anomalies	Vaginal atresia	OMIM:267400
Cortisone Reductase Deficiency 2	Obesity, Premature pubarche	OMIM:614662
Popliteal Pterygium Syndrome	Hypoplasia of the vagina, Bifid scrotum, Bifid uvula, Hypoplastic labia majora, Cryptorchidism, C...	OMIM:119500
Mehmo Syndrome	Decreased response to growth hormone stimulation test, Small for gestational age, Male hypogonadi...	OMIM:300148
Spastic Paraplegia 26, Autosomal Recessive	Urinary urgency, Decreased serum testosterone concentration	OMIM:609195
Mccune-Albright Syndrome	Decreased fertility, Irregular menstruation, Increased circulating prolactin concentration, Preco...	ORPHA:562
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Oligospermia, Cryptorchidism	OMIM:314300
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr...	ORPHA:171706
Microcephaly-Microcornea Syndrome, Seemanova Type	High palate, Hypogonadism	ORPHA:2528
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Male hypogonadism, Hypergonadotropic hypogonadism	OMIM:307500
Renal And Mullerian Duct Hypoplasia	Anteriorly displaced urethral meatus, Hydrocele testis, Aplasia of the uterus, Horseshoe kidney, ...	OMIM:266810
Lipodystrophy, Partial, Acquired, Susceptibility To	Nephrotic syndrome, Hematuria, Membranoproliferative glomerulonephritis, Diabetes mellitus, Polyc...	OMIM:608709
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Ambiguous genitalia, Decreased circulating dehydroepiandrosterone-sulfate concentration, Decrease...	ORPHA:95699
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency	Increased circulating ACTH level, Ambiguous genitalia, Congenital adrenal hyperplasia	OMIM:613571
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Absent vas deferens, Male infertility, Azoospermia	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Absent vas deferens, Male infertility, Azoospermia	OMIM:277180
Fetal Minoxidil Syndrome	Cryptorchidism	ORPHA:1918
Temple Syndrome	Precocious puberty, Decreased response to growth hormone stimulation test, Small for gestational ...	ORPHA:254516
Spinocerebellar Ataxia, Autosomal Recessive 16	Hypogonadism	OMIM:615768
Prolactinoma	Impotence, Anterior hypopituitarism, Decreased female libido, Secondary growth hormone deficiency...	ORPHA:2965
Lessel-Kubisch Syndrome	Renal hypoplasia, Renal insufficiency, Hypogonadism	OMIM:618681
Ovarian Dysgenesis 8	Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Hypoplastic labia ma...	OMIM:618187
Conductive Deafness-Malformed External Ear Syndrome	High palate, Hypogonadism	ORPHA:3216
Bangstad Syndrome	Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Increased circulating cortisol l...	ORPHA:1227
Non-Syndromic Posterior Hypospadias	Bifid scrotum, Esophageal atresia, Androgen insufficiency, Urethral diverticulum, Ventral shorten...	ORPHA:95706
Tetralogy Of Fallot	Cryptorchidism	ORPHA:3303
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Secondary amenorrhea, Polycystic ovaries, Hypergonadotropic hypogonadism, Insulin-resistant diabe...	OMIM:268020
Ciliary Dyskinesia, Primary, 37	Hypothyroidism, Female infertility, Goiter	OMIM:617577
Prolactin Deficiency With Obesity And Enlarged Testes	Macroorchidism, Obesity, Reduced circulating prolactin concentration	OMIM:264120
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Sparse eyebrow, Absent scrotum, Absence of labia majora, Synophrys, Broad eyebrow, Hypoplastic la...	ORPHA:495875
Ovarian Fibroma	Abnormality of the ovary, Ovarian fibroma, Gonadal calcification	ORPHA:314473
Hemochromatosis, Type 1	Alopecia, Impotence, Azoospermia, Testicular atrophy, Diabetes mellitus, Hypogonadotropic hypogon...	OMIM:235200
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency	Hypothyroidism, Infertility, Male pseudohermaphroditism, Female external genitalia in individual ...	OMIM:264300
Linear Skin Defects With Multiple Congenital Anomalies 1	Anal atresia, Anteriorly placed anus, Hypospadias, Hypoplasia of the uterus, Colonic atresia, Ovo...	OMIM:309801
X-Linked Intellectual Disability, Miles-Carpenter Type	Hypogonadism	ORPHA:85283
Familial Glucocorticoid Deficiency	Leydig cell neoplasia, Precocious puberty, Decreased circulating aldosterone level, Decreased cir...	ORPHA:361
Pituitary Stalk Interruption Syndrome	Hypothyroidism, Diabetes insipidus, Hypoplasia of penis, Ectopic posterior pituitary, Failure to ...	ORPHA:95496
Wagr Syndrome	Ambiguous genitalia, Obesity, Displacement of the urethral meatus, Cryptorchidism	ORPHA:893
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Penile hypospadias, High palate, Bifid scrotum, Penoscrotal hypospadias, Blind vagina, Cryptorchi...	ORPHA:456328
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Primary amenorrhea, Decreased testicular size, Small pituitary gland, Cryptorchidism, Micropenis	OMIM:614880
Microphthalmia, Syndromic 9	Bicornuate uterus, Hypoplasia of the uterus, Pelvic kidney, Horseshoe kidney, Cryptorchidism, Ren...	OMIM:601186
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Decreased serum estradiol, Decreased testicular size, Hypergonadotropic hypogonadism, Primary ame...	OMIM:604168
Congenital Generalized Lipodystrophy	Precocious puberty in females, Hyperinsulinemia, Low anterior hairline, Clitoral hypertrophy, Ove...	ORPHA:528
Classic Galactosemia	Decreased fertility in females, Secondary amenorrhea, Premature ovarian insufficiency, Oligomenor...	ORPHA:79239
Akt2-Related Familial Partial Lipodystrophy	Decreased serum leptin, Polycystic ovaries, Decreased adiponectin level, Insulin-resistant diabet...	ORPHA:79085
Renal Hypodysplasia/Aplasia 3	Vesicoureteral reflux, Multicystic kidney dysplasia, Abnormality of the uterus, Horseshoe kidney,...	OMIM:617805
Sim1-Related Prader-Willi-Like Syndrome	Central hypothyroidism, Precocious puberty, Small pituitary gland, Primary amenorrhea, Abdominal ...	ORPHA:398079
Moynahan Syndrome	Hypogonadism	ORPHA:2574
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Primary amenorrhea, Unilateral renal agenesis, Cryptorchidism, Hypogonadotropic hypogonadism, Cle...	OMIM:244200
Intellectual Developmental Disorder, X-Linked, Syndromic 11	Macroorchidism, Obesity	OMIM:300238
Whim Syndrome 1	Abnormality of female external genitalia, Abnormal morphology of female internal genitalia	OMIM:193670
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome	Hypergonadotropic hypogonadism	ORPHA:88637
1Q21.1 Microduplication Syndrome	Hypospadias, Cryptorchidism	ORPHA:250994
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Nephrotic syndrome, Nephrocalcinosis, Hematuria, Distal renal tubular acidosis, Proximal renal tu...	OMIM:146255
Lig4 Syndrome	Hypothyroidism, Failure to thrive, Cryptorchidism, Micropenis, Amenorrhea	OMIM:606593
Premature Ovarian Failure 12	Primary amenorrhea	OMIM:616947
Dysmyelination With Jaundice	Hydroureter, Hydronephrosis, Hypoplasia of penis, Cryptorchidism	OMIM:224250
Familial Partial Lipodystrophy, Köbberling Type	Diabetes mellitus, Hyperinsulinemia, Polycystic ovaries	ORPHA:79084
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased serum testosterone level, Increased circulating cortisol level, Secondary amenorrhea, D...	OMIM:610489
Ovarian Hyperstimulation Syndrome	Hemorrhagic ovarian cyst, Increased serum testosterone level, Enlarged polycystic ovaries, Increa...	ORPHA:64739
Hemochromatosis, Type 2A	Hypogonadotropic hypogonadism, Infertility, Azoospermia, Amenorrhea	OMIM:602390
Temple Syndrome	Precocious puberty, Decreased testicular size, Small for gestational age, Maturity-onset diabetes...	OMIM:616222
Urban-Rogers-Meyer Syndrome	Hypogonadism, Hypoplasia of penis, Abnormality of the ureter, Cryptorchidism, Obesity	ORPHA:3409
Pituitary Adenoma 1, Multiple Types	Irregular menstruation, Increased circulating prolactin concentration, Pituitary adenoma, Prolact...	OMIM:102200
Diencephalic Syndrome	Cachexia, Abnormality of the hypothalamus-pituitary axis, Decreased body weight, Long penis	ORPHA:1672
Leptin Receptor Deficiency	Decreased response to growth hormone stimulation test, Diabetes mellitus, Delayed puberty, Hyperg...	OMIM:614963
Microcephaly 16, Primary, Autosomal Recessive	Cryptorchidism	OMIM:616681
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia	Absence of pubertal development, Hypogonadism	OMIM:615267
Leukoencephalopathy With Dystonia And Motor Neuropathy	Azoospermia, Hypergonadotropic hypogonadism	OMIM:613724
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Childhood-onset truncal obesity, Micropenis, Truncal obesity	OMIM:610156
Ataxia-Telangiectasia	Abnormal testis morphology, Premature graying of hair, Aplasia/Hypoplasia of the thymus, Type II ...	ORPHA:100
48,Xxyy Syndrome	Decreased testicular size, Type II diabetes mellitus, Infertility, Azoospermia, Hypoplasia of pen...	ORPHA:10
Cidec-Related Familial Partial Lipodystrophy	Decreased serum leptin, Polycystic ovaries, Decreased adiponectin level, Insulin-resistant diabet...	ORPHA:435651
Megalencephaly	Macroorchidism, Long penis, Truncal obesity	ORPHA:2477
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Increased circulating prolactin concentration, Precocious puberty, Decreased response to growth h...	ORPHA:91354
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Cryptorchidism	ORPHA:2489
Syndromic Recessive X-Linked Ichthyosis	Hypogonadism, Abnormal stomach morphology, Testicular seminoma, Unilateral renal agenesis, Crypto...	ORPHA:281090
Meacham Syndrome	Abnormal fallopian tube morphology, Ambiguous genitalia, Crossed fused renal ectopia, Hydrometroc...	ORPHA:3097
Proprotein Convertase 1/3 Deficiency	Hypogonadotropic hypogonadism, Decreased circulating cortisol level, Obesity, Primary amenorrhea	OMIM:600955
Perrault Syndrome 1	Increased circulating gonadotropin level, Gonadal dysgenesis, Primary amenorrhea	OMIM:233400
Perlman Syndrome	Hyperinsulinemia, Hypoplasia of penis, Cryptorchidism, Abnormal pancreas morphology, High, narrow...	ORPHA:2849
Preeclampsia	Increased body mass index, Small for gestational age, Acute kidney injury, Type I diabetes mellit...	ORPHA:275555
Borjeson-Forssman-Lehmann Syndrome	Hypogonadism, Decreased testicular size, Hypoplasia of penis, Truncal obesity, Sparse hair, Crypt...	ORPHA:127
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Trisomy 5P	Obesity, Hypoplasia of penis	ORPHA:1742
Retinal Dystrophy With Or Without Extraocular Anomalies	Premature ovarian insufficiency, Goiter, Secondary amenorrhea	OMIM:617175
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Abnormal fallopian tube morphology, Abnormality of the uterus, Vaginal atresia, Pancreatic lympha...	ORPHA:1655
Pituitary Gigantism	Hyperhidrosis, Increased circulating prolactin concentration, Type II diabetes mellitus, Increase...	ORPHA:99725
Mmep Syndrome	Cryptorchidism	ORPHA:3434
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hyperinsulinemia, Precocious puberty, High palate, Diabetic ketoacidosis, Long penis, Insulin-res...	OMIM:262190
Burkitt Lymphoma	Abnormality of the ovary	ORPHA:543
N Syndrome	Hypospadias, Cryptorchidism	OMIM:310465
Lipodystrophy, Familial Partial, Type 3	Hyperinsulinemia, Type II diabetes mellitus, Oligomenorrhea, Maternal diabetes, Polycystic ovarie...	OMIM:604367
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia	Delayed puberty, Hypogonadism	OMIM:615270
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cleft palate, Micropenis, Decreased testicular size	OMIM:614838
Myotonic Dystrophy 1	Testicular atrophy, Frontal balding, Cholelithiasis, Hypogonadism	OMIM:160900
Robinow Syndrome	High anterior hairline, Multicystic kidney dysplasia, External genital hypoplasia, Webbed penis, ...	ORPHA:97360
Autoimmune Polyendocrinopathy Type 2	Hypogonadism, Type I diabetes mellitus, Primary adrenal insufficiency, Graves disease, Hashimoto ...	ORPHA:3143
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Cryptorchidism	ORPHA:1174
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell...	OMIM:601820
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Premature pubarche, Cryptorchidism	ORPHA:457205
Microphthalmia, Syndromic 12	Cryptorchidism, Bicornuate uterus	OMIM:615524
8p23.1 deletion syndrome	Cryptorchidism	DECIPHER:39
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Nephrotic syndrome, Type I diabetes mellitus, Nephropathy, Cryptorchidism, Proteinuria	ORPHA:1192
Hemochromatosis Type 2	Diabetes mellitus, Abnormality of endocrine pancreas physiology, Impotence, Hypogonadism	ORPHA:79230
Precocious Puberty, Central, 1	Hypothyroidism, Elevated circulating follicle stimulating hormone level, Elevated circulating lut...	OMIM:176400
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia	Hypogonadism	OMIM:251240
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Hypospadias, Hypoplasia of penis, Anal atresia, Cryptorchidism	ORPHA:1381
Bone Marrow Failure Syndrome 5	Testicular atrophy, Nail dystrophy, Hypogonadism	OMIM:618165
Cornelia De Lange Syndrome 5	Hypogonadism, Decreased testicular size, Synophrys, Long eyelashes, Hirsutism, Cryptorchidism, Tr...	OMIM:300882
Mckusick-Kaufman Syndrome	Vesicovaginal fistula, Hydroureter, Hydrometrocolpos, Transverse vaginal septum, Polycystic kidne...	OMIM:236700
Prune Belly Syndrome	Decreased fertility, Urogenital sinus anomaly, Vesicoureteral reflux, Multicystic kidney dysplasi...	ORPHA:2970
Hereditary Breast And Ovarian Cancer Syndrome	Abnormal fallopian tube morphology, Neoplasm of the pancreas, Prostate cancer, Ovarian neoplasm	ORPHA:145
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Vesicoureteral reflux, Polycystic kidney dysplasia, Unilateral renal agenesis, Diabetes mellitus,...

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us