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Gene: Lhx9 MGI:1316721

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
LIM homeobox protein 9
Synonyms:
LH2B,  3110009O07Rik,  Lhx9 alpha

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 Lhx9 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Lhx9 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ... OMIM:614324
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Primary amenorrhea, ... OMIM:273250
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Ovarian Dysgenesis 7
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:618117
Hypogonadism-Cataract Syndrome
Male hypogonadism, Elevated circulating follicle stimulating hormone level, Hypogonadism, Inferti... OMIM:240950
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi... OMIM:612310
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Ovarian Dysgenesis 10
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:619834
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Pituicytoma
Hypopituitarism, Decreased female libido, Hypogonadotropic hypogonadism, Decreased response to gr... ORPHA:251623
Premature Ovarian Failure 7
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... OMIM:612964
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... OMIM:614841
Ovarian Dysgenesis 5
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:617690
46,Xy Sex Reversal 1
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... OMIM:400044
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... OMIM:228300
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... OMIM:620311
46,Xy Sex Reversal 9
Sex reversal, Gonadal dysgenesis, Fused labia minora, Ambiguous genitalia OMIM:616067
Premature Ovarian Failure 8
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male i... OMIM:619528
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Spermatogenic Failure 50
Decreased testicular size, Azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619145
Isochromosomy Yp
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... ORPHA:98797
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Leydig Cell Hypoplasia
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... ORPHA:755
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... OMIM:614129
Spermatogenic Failure 73
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619937
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Spermatogenic Failure 32
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:618115
Spermatogenic Failure 71
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:619831
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... ORPHA:90796
Spermatogenic Failure 14
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... OMIM:615842
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone... OMIM:616030
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:618841
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Primary amenorrhea, Blind vagina, Elevated circul... OMIM:300068
46,Xy Sex Reversal 8
Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia OMIM:614279
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Premature Ovarian Failure 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... OMIM:615724
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... ORPHA:2232
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... OMIM:616950
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula... OMIM:614897
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... OMIM:229070
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Isochromosomy Yq
Decreased testicular size, Male infertility, Gonadal tissue inappropriate for external genitalia ... ORPHA:98798
X-Linked Intellectual Disability, Van Esch Type
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... ORPHA:163976
Ovarian Dysgenesis 8
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplastic labia majora, Dec... OMIM:618187
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility OMIM:619672
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... OMIM:612965
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... OMIM:619613
Premature Ovarian Failure 17
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Decreased inhibi... OMIM:619146
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
46,Xx Sex Reversal 3
Sex reversal OMIM:300833
46,Xy Sex Reversal 2
Sex reversal OMIM:300018
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Chromosome Xq27.3-Q28 Duplication Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Hypogonadism, Decreased serum testoster... OMIM:300869
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... OMIM:619326
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu... OMIM:278850
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Ovarian Dysgenesis 2
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh... OMIM:300510
Premature Ovarian Failure 16
Elevated circulating follicle stimulating hormone level, Premature ovarian insufficiency, Decreas... OMIM:618723
X-Linked Intellectual Disability, Cilliers Type
Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Increased circulating gonadotropin l... ORPHA:163971
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Gonadal dysgenesis, Primary amenorrhea OMIM:233300
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Premature Ovarian Failure 15
Irregular menstruation, Secondary amenorrhea, Elevated circulating follicle stimulating hormone l... OMIM:618096
Persistent Mullerian Duct Syndrome, Types I And Ii
Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation, Male infertility OMIM:261550
49,Xxxyy Syndrome
Decreased serum testosterone concentration, External genital hypoplasia, Abnormality of the testi... ORPHA:261534
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Absence of pubertal development, Primar... OMIM:618078
Ovarian Dysgenesis 4
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Primary ameno... OMIM:616185
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve... OMIM:614839
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Normosmic Congenital Hypogonadotropic Hypogonadism
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Female hypogonadism, N... ORPHA:432
Spermatogenic Failure 25
Non-obstructive azoospermia, Male infertility, Decreased testicular size, Cryptozoospermia OMIM:617960
Hypergonadotropic Hypogonadism-Cataract Syndrome
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of secondary se... ORPHA:2410
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Ambiguous genitalia, female, Ambiguous genitalia, male, Inc... ORPHA:90791
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... ORPHA:99429
46,Xx Sex Reversal 1
True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, Ovotestis, Sex... OMIM:400045
Hyperprolactinemia
Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea, Female infertility OMIM:615555
Testicular Agenesis
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... ORPHA:325124
Premature Ovarian Failure 20
Secondary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follic... OMIM:619938
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614837
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second... OMIM:617565
Spermatogenic Failure 29
Non-obstructive azoospermia, Male infertility, Immotile sperm OMIM:618091
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... ORPHA:529970
Spermatogenic Failure 20
Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Male infertility OMIM:617593
Premature Ovarian Failure 14
Elevated circulating luteinizing hormone level, Decreased serum estradiol, Elevated circulating f... OMIM:618014
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea ORPHA:397685
Spermatogenic Failure 22
Non-obstructive azoospermia, Male infertility, Cryptozoospermia OMIM:617706
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Precocious Puberty, Central, 1
Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti... OMIM:176400
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614840
46,Xy Sex Reversal 5
Sex reversal OMIM:613080
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility OMIM:300604
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... ORPHA:399808
Endometriosis, Susceptibility To, 1
Decreased fertility, Dysmenorrhea, Endometriosis OMIM:131200
Premature Ovarian Failure 2A
Elevated circulating luteinizing hormone level, Premature ovarian insufficiency, Elevated circula... OMIM:300511
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
46,Xy Sex Reversal 6
Hypospadias, Sex reversal, Gonadal dysgenesis, Chordee, Dysgerminoma, Gonadoblastoma, Clitoral hy... OMIM:613762
Spermatogenic Failure, X-Linked, 5
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, A... OMIM:301099
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Congenital adrenal hyperplasia, Ambiguous genital... OMIM:202010
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ... OMIM:615300
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Premature Ovarian Failure 5
Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas... OMIM:611548
Premature Ovarian Failure 11
Elevated circulating follicle stimulating hormone level, Oligomenorrhea, Secondary amenorrhea OMIM:616946
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decrease... ORPHA:453533
49,Xyyyy Syndrome
External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l... ORPHA:99330
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Ambiguous genitalia, male... ORPHA:168558
46,Xx Gonadal Dysgenesis
Streak ovary, Premature ovarian insufficiency, Increased circulating gonadotropin level, Decrease... ORPHA:243
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, Am... ORPHA:289548
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the... OMIM:614842
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Absent s... OMIM:301059
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Frasier Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Male pseudohermaphroditism, Increased circulating g... ORPHA:347
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 11
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Spermatogenic Failure 79
Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:620196
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Male infertility, Immotile sperm OMIM:608653
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Ane Syndrome
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Anterior pituitary h... ORPHA:157954
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... ORPHA:1916
Premature Ovarian Failure 3
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea OMIM:608996
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Gonadal dysgenesis, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:607080
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Spermatogenic Failure 42
Male infertility, Coiled sperm flagella, Absent sperm flagella, Tapered sperm head, Microcephalic... OMIM:618745
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre... OMIM:146110
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... OMIM:300845
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome
Sex reversal ORPHA:85112
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Sex reversal, Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess OMIM:613743
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se... ORPHA:206484
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
Spermatogenic Failure 64
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... OMIM:619696
Estrogen Resistance
Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Primary ame... OMIM:615363
Premature Ovarian Failure 1
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation OMIM:311360
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Male pseudohermaphroditism, Hypothyroidism, Infertility, Female external genitalia in individual ... OMIM:264300
Acromesomelic Dysplasia 3
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe... OMIM:609441
Adenohypophysitis
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... ORPHA:95512
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Streak ovary, Hypoplasia of the fallopian tube, Prema... ORPHA:3464
Panhypophysitis
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... ORPHA:95513
Ovarian Fibrothecoma
Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Abnormal circulating hormone conc... ORPHA:314478
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Female infertility... ORPHA:572333
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Decreased circulating renin level, Isosexual precocious pub... ORPHA:90795
Asherman Syndrome
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... ORPHA:137686
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries ORPHA:1643
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Perrault Syndrome 1
Increased circulating gonadotropin level, Gonadal dysgenesis, Primary amenorrhea OMIM:233400
Gordon Holmes Syndrome
Hypogonadotropic hypogonadism, Secondary amenorrhea, Absence of pubertal development, Primary ame... OMIM:212840
Polyembryoma
Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Abnormality of the... ORPHA:180229
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Prematu... OMIM:241080
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... ORPHA:785
Post-Traumatic Pituitary Deficiency
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c... ORPHA:95619
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypogonadotropic hypogonadism, Cryptorchidism, Male pseudohermaphroditism, Infertility, Ambiguous... ORPHA:752
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary, Premature ovarian insufficiency OMIM:609993
Methemoglobinemia And Ambiguous Genitalia
Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ... OMIM:250790
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Dyspareunia, Partial vaginal septum, Metrorrhagia, Abnormal uterine cervix morphology, Dysmenorrh... ORPHA:3411
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating luteinizing hormone level, Breast aplasia, Elevated circulating follicle sti... ORPHA:3044
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Spermatogenic Failure 17
Male infertility OMIM:617214
Autosomal Recessive Spastic Paraplegia Type 26
Decreased serum testosterone concentration, Premature ovarian insufficiency ORPHA:101006
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ... OMIM:158330
Cortisone Reductase Deficiency 1
Precocious puberty, Infertility, Oligomenorrhea OMIM:604931
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Primary amenorrhea, Hypogonadism, Micropenis, Decreased testicular size OMIM:614962
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... OMIM:305400
Leopard Syndrome 1
Hypospadias, Delayed menarche, Cryptorchidism, Hypoplasia of the ovary, Aplasia of the ovary, Mic... OMIM:151100
Isolated Splenogonadal Fusion
Abnormal penis morphology, Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circula... ORPHA:457083
Limb-Mammary Syndrome
Absent nipple, Primary amenorrhea, Hypohidrosis, Bilateral breast hypoplasia, Breast aplasia, Hyp... ORPHA:69085
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ovaries, Insulin-resista... ORPHA:280356
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Infertility, Erectile dysfuncti... ORPHA:465508
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Bifid scrotum, Hypoplasia of penis, Small scrotum, Abnormality of the endocrine system, Cryptorch... ORPHA:753
Müllerian Aplasia And Hyperandrogenism
Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosterone level, Abnormal vagina... ORPHA:247768
46,Xy Sex Reversal 4
Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen... OMIM:154230
Satoyoshi Syndrome
Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of... ORPHA:3130
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Myotonic Dystrophy 2
Type II diabetes mellitus, Hypogonadism, Elevated circulating follicle stimulating hormone level,... OMIM:602668
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Hydatidiform Mole
Hyperthyroidism, Menometrorrhagia, Enlarged uterus ORPHA:99927
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... OMIM:620356
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Abnormal va... OMIM:194072
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Decreased serum testosterone concentration, Hypogonadism, Decreased testicular size OMIM:201100
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Decreased serum testosterone concentration, Premature ovarian insuffici... ORPHA:2959
Serkal Syndrome
Abnormal penis morphology, Abnormality of the adrenal glands, Hypospadias, Sex reversal ORPHA:139466
Androgen Insensitivity, Partial
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... OMIM:312300
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... OMIM:110100
Aromatase Deficiency
Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Seckel Syndrome 7
Hypoplasia of the uterus, Primary amenorrhea, Central hypothyroidism OMIM:614851
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
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
Pituitary Gigantism
Premature pubarche, Elevated circulating growth hormone concentration, Hyperhidrosis, Increased c... ORPHA:99725
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea OMIM:614858
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Decreased response to growth hormone stimulation test, Precocious puberty, Pituitary adenoma, Adr... ORPHA:91354
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Secondary amenorrhea, Polycysti... ORPHA:3085
Paternal Uniparental Disomy Of Chromosome X
Infertility, Micropenis, Decreased testicular size ORPHA:261524
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
46,Xx Sex Reversal 5
Ambiguous genitalia, Urogenital sinus anomaly, Increased serum testosterone level OMIM:618901
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea OMIM:277000
Hepatic Adenomas, Familial
Maturity-onset diabetes of the young, Polycystic ovaries OMIM:142330
Prolactinoma
Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed puberty, ... ORPHA:2965
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... ORPHA:90794
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... OMIM:262600
Meningioma
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Ne... ORPHA:2495
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Glucocorticoid Resistance, Generalized
Irregular menstruation, Increased circulating ACTH level, Increased circulating cortisol level, I... OMIM:615962
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... OMIM:201810
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of ... OMIM:610628
Spermatogenic Failure 6
Globozoospermia, Decreased acrosin in sperm head, Male infertility OMIM:102530
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Oligomenorrhea, Amenorrhea OMIM:184700
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus OMIM:601076
Hemochromatosis, Type 2A
Azoospermia, Hypogonadotropic hypogonadism, Infertility, Amenorrhea OMIM:602390
Morbid Obesity And Spermatogenic Failure
Azoospermia, Type II diabetes mellitus, Infertility, Oligozoospermia OMIM:615703
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Small pituitary gland, Delayed... OMIM:612702
Satoyoshi Syndrome
Hypoplasia of the uterus, Amenorrhea OMIM:600705
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Hyperthyroidism, Primary hypercortisolism, Elevated circulating ... ORPHA:562
Pituitary Adenoma 1, Multiple Types
Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc... OMIM:102200
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
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
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Male pseudohermaphroditism, Adrenogenital syndrome, Primary amenorrhea, Ambi... OMIM:202110
Bardet-Biedl Syndrome
Cryptorchidism, Hypoplasia of penis, Hypoplasia of the ovary, Hypogonadism ORPHA:110
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... ORPHA:91347
Akt2-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycys... ORPHA:79085
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
Vaginal Atresia
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ... ORPHA:65681
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Congenital adrenal hyperplasia, Clitoral hypertrophy, Increased serum testoster... ORPHA:96181
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Insulin-resistant diabetes mellitus, Hypergonadotropic hypogonadism, Secondary amenorrhea, Polycy... OMIM:268020
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Elevated circulating growt... ORPHA:300373
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... ORPHA:91351
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Aplasia of the uterus ORPHA:3109
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Sex reversal, Adrenal gland agenesis, Hypospadias, Ovotestis OMIM:611812
Frasier Syndrome
Gonadal dysgenesis, Male pseudohermaphroditism, Primary amenorrhea, Ovarian gonadoblastoma OMIM:136680
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating... ORPHA:1227
Myoectodermal Gonadal Dysgenesis Syndrome
Elevated circulating luteinizing hormone level, Hypoplastic labia majora, Hypoplasia of the uteru... OMIM:618419
46,Xy Ovotesticular Difference Of Sex Development
Bifid scrotum, Ambiguous genitalia, True hermaphroditism, Abnormal labia morphology, Fused labia ... ORPHA:325345
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Male pseudoherm... ORPHA:90790
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Small pituitary gland, Micropenis, Decreased testicular size OMIM:614880
Pseudohermaphroditism, Female, With Skeletal Anomalies
Ambiguous genitalia, Primary amenorrhea, Clitoral hypertrophy OMIM:264270
Endocrine-Cerebroosteodysplasia
Small scrotum, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Sex reversal, Microphallus, Ambig... OMIM:612651
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:199310
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycys... ORPHA:435651
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Female infertility, Goiter OMIM:617577
Classic Galactosemia
Male infertility, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, ... ORPHA:79239
Fowler Urethral Sphincter Dysfunction Syndrome
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea ORPHA:2795
Spastic Paraplegia 26, Autosomal Recessive
Decreased serum testosterone concentration OMIM:609195
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Primary amenorrhea, Pol... OMIM:604367
Rudiger Syndrome
Ovarian cyst, Micropenis, Bicornuate uterus OMIM:268650
Bardet-Biedl Syndrome 12
Hypogonadism, Hydrometrocolpos, Vaginal atresia OMIM:615989
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Insulin-resistant diabetes mellitus, Elevated circulating growth hor... ORPHA:90301
Lipe-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycys... ORPHA:435660
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... ORPHA:64739
Familial Partial Lipodystrophy, Köbberling Type
Diabetes mellitus, Hyperinsulinemia, Pancreatitis, Polycystic ovaries ORPHA:79084
Pituitary Apoplexy
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:95613
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone... ORPHA:85327
Amed Syndrome, Digenic
Hypoplasia of the uterus, Adrenal hypoplasia OMIM:619151
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... OMIM:300200
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Primary ame... OMIM:600955
Bardet-Biedl Syndrome 6
Vaginal atresia, Diabetes mellitus, Hypospadias, External genital hypoplasia OMIM:605231
Pituitary Stalk Interruption Syndrome
Hypoplasia of penis, Ectopic posterior pituitary, Adrenal hypoplasia, Cryptorchidism, Hypothyroid... ORPHA:95496
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Cryptorchidism, Hypoplastic labia minora, Absence of labia majora, Absent scrotum, D... ORPHA:495875
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... ORPHA:2975
Congenital Generalized Lipodystrophy
Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in females, Hyperinsuline... ORPHA:528
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Septate vagina, Uterus didelphys, Primary amenorrhea, Aplasia of the vagina, ... OMIM:146255
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:90695
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... OMIM:610489
Renal Hypodysplasia/Aplasia 1
Bicornuate uterus, Vaginal atresia, Primary amenorrhea OMIM:191830
Steinert Myotonic Dystrophy
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... ORPHA:273
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Mccune-Albright Syndrome
Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... OMIM:174800
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Persistent Müllerian Duct Syndrome
Cryptorchidism, Male pseudohermaphroditism ORPHA:2856
Sim1-Related Prader-Willi-Like Syndrome
Hypothalamic luteinizing hormone-releasing hormone deficiency, Small scrotum, Hypogonadotropic hy... ORPHA:398079
Robinow Syndrome
Decreased serum testosterone concentration, Small scrotum, External genital hypoplasia, Cryptorch... ORPHA:97360
Lipodystrophy, Partial, Acquired, Susceptibility To
Diabetes mellitus, Polycystic ovaries OMIM:608709
Pmm2-Cdg
Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, Elevated circul... ORPHA:79318
Ataxia-Telangiectasia
Diabetes mellitus, Polycystic ovaries, Type II diabetes mellitus, Delayed puberty, Abnormal testi... ORPHA:100
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Coiled sperm flagella, Short sperm flagella, Male infertility OMIM:620197
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... ORPHA:361
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:98754
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni... OMIM:201750
Gangliocytoma
Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent... ORPHA:251937
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:98793
Interstitial Cystitis
Dyspareunia, Abnormal vagina morphology, Abnormal labia morphology, Abnormality of the menstrual ... ORPHA:37202
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:177901
Pituitary Carcinoma
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... ORPHA:300385
Hypomelia With Mullerian Duct Anomalies
Uterus didelphys, Longitudinal vaginal septum OMIM:146160
Pparg-Related Familial Partial Lipodystrophy
Diabetes mellitus, Dysmenorrhea, Maternal diabetes, Insulin-resistant diabetes mellitus, Primary ... ORPHA:79083
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus OMIM:266810
Prader-Willi Syndrome
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:739
Seckel Syndrome 10
Acute pancreatitis, Diabetes mellitus, Elevated circulating follicle stimulating hormone level, E... OMIM:617253
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy, Premature ovarian insufficiency, Female infertility OMIM:619518
Denys-Drash Syndrome
True hermaphroditism, Septate vagina, Gonadal tissue inappropriate for external genitalia or chro... OMIM:194080
Microcephaly 20, Primary, Autosomal Recessive
Hypoplasia of the uterus, Vaginal atresia OMIM:617914
Congenital Factor Vii Deficiency
Ovarian cyst, Menorrhagia ORPHA:327
Meckel Syndrome 12
Hypoplasia of the uterus, Vaginal atresia OMIM:616258
Renal Cysts And Diabetes Syndrome
Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the young, Exocrine pancreatic insuffi... OMIM:137920
Rabson-Mendenhall Syndrome
Increased pineal volume, Enlarged ovaries, Precocious puberty, Insulin-resistant diabetes mellitu... ORPHA:769
Renal, Genital, And Middle Ear Anomalies
Vaginal atresia OMIM:267400
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Hypoplasia of the uterus, Decreased response to growth hormone stimulation test, Delayed puberty OMIM:615866
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... ORPHA:91350
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... OMIM:610475
Carney Complex
Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Abnormal sperm motility, O... ORPHA:1359
Meacham Syndrome
Hypoplasia of penis, Cryptorchidism, Hydrometrocolpos, Abnormal fallopian tube morphology, Ambigu... ORPHA:3097
Camptobrachydactyly
Septate vagina ORPHA:1319
Mckusick-Kaufman Syndrome
Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, Rectovaginal fistula, Vesicovaginal ... OMIM:236700
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Ovotestis, Hypoplasia of the uterus, Chordee, Micropenis, Clitoral hypertrophy OMIM:309801
Familial Partial Lipodystrophy, Dunnigan Type
Diabetes mellitus, Dysmenorrhea, Secondary amenorrhea, Polycystic ovaries, Pancreatitis ORPHA:2348
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Enlarged polycystic ovaries, Abnormal circulating leptin concentration, Insulin... ORPHA:2298
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:95494
Camptobrachydactyly
Septate vagina OMIM:114150
Duplication Of Urethra
Bifid scrotum, Hypospadias, Septate vagina, Epispadias, Coronal hypospadias, Uterus didelphys, Ch... ORPHA:237
Cowden Syndrome 6
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Va... OMIM:615109
Peters-Plus Syndrome
Hypoplasia of the vagina, Hypospadias, Bilobate gallbladder, Cryptorchidism, Hypoplasia of the ut... OMIM:261540
Donohue Syndrome
Precocious puberty, Long penis, Hyperinsulinemia, Ovarian cyst, Pancreatic islet-cell hyperplasia... OMIM:246200
Hand-Foot-Genital Syndrome
Bifid scrotum, Hypospadias, Uterus didelphys, Chordee, Longitudinal vaginal septum, Micropenis OMIM:140000
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Campomelic Dysplasia
Sex reversal, Hypospadias OMIM:114290
Genitourinary And/Or Brain Malformation Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Gonadal dysgenesis, Urogenital sinus... OMIM:618820
Lumbar Syndrome
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... ORPHA:83628
Luscan-Lumish Syndrome
Irregular menstruation, Polycystic ovaries OMIM:616831
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Cowden Syndrome 5
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Go... OMIM:615108
Microphthalmia, Syndromic 9
Hypoplasia of the uterus, Cryptorchidism, Bicornuate uterus OMIM:601186
Congenital Fibrinogen Deficiency
Micropenis, Hemorrhagic ovarian cyst, Decreased testicular size ORPHA:335
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Cowden Syndrome 1
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Thyroid adenoma,... OMIM:158350
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis ORPHA:2239
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Diabetes mellitus, Septate vagina, Uterus didelphys, Parathyroid hypoplasia, ... ORPHA:2237
Fibrous Dysplasia Of Bone
Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Testicular neoplasm, Elevated ... ORPHA:249
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility ORPHA:244
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Decreased res... ORPHA:293978
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp... ORPHA:85450
Mckusick-Kaufman Syndrome
Cryptorchidism, Hydrometrocolpos, Glandular hypospadias, Urogenital sinus anomaly ORPHA:2473
Bardet-Biedl Syndrome 1
Diabetes mellitus, Nephrogenic diabetes insipidus, Abnormality of the ovary, Hypogonadism, Vagina... OMIM:209900
Renal Nutcracker Syndrome
Dyspareunia, Dysmenorrhea, Vulval varicose vein, Infertility, Varicocele ORPHA:71273
Chromosome Xq26.3 Duplication Syndrome
Elevated circulating growth hormone concentration, Pituitary adenoma, Hyperhidrosis, Increased ci... OMIM:300942
Lipodystrophy, Congenital Generalized, Type 1
Acute pancreatitis, Diabetes mellitus, Decreased serum leptin, Decreased fertility in females, La... OMIM:608594
Lipodystrophy, Congenital Generalized, Type 2
Acute pancreatitis, Decreased serum leptin, Decreased fertility in females, Labial hypertrophy, H... OMIM:269700
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Cryptorchidism, Pancreatic lymphangiectasis, Abnormality of the uterus, Abnormal fallopian tube m... ORPHA:1655
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm OMIM:614874
Familial Adenomatous Polyposis 4
Ovarian cyst, Uterine leiomyoma, Thyroid adenoma OMIM:617100
Somatomammotropinoma
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating growth hormo... ORPHA:314769
Ciliary Dyskinesia, Primary, 9
Male infertility, Absent outer dynein arms OMIM:612444
Fanconi Anemia, Complementation Group A
Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism OMIM:227650
Ciliary Dyskinesia, Primary, 14
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... OMIM:613807
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Micropenis, Hypoplasia of the ovary, Decreased testicular size OMIM:619321
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Vaginal atresia ORPHA:3301
Acromegaly
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating growth hormo... ORPHA:963
Pituitary Adenoma 2, Growth Hormone-Secreting
Pituitary adenoma, Elevated circulating growth hormone concentration OMIM:300943
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... ORPHA:652
Ppoma
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Abnormality of the t... ORPHA:97278
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Multiple pancreatic beta-cell adenomas, Increa... ORPHA:79644
Alg6-Cdg
Puberty and gonadal disorders, Increased circulating androgen concentration ORPHA:79320
Turner Syndrome Due To Structural X Chromosome Anomalies
Premature ovarian insufficiency, Female infertility, Hashimoto thyroiditis, High urinary gonadotr... ORPHA:99413
Turner Syndrome
Premature ovarian insufficiency, Female infertility, Hashimoto thyroiditis, High urinary gonadotr... ORPHA:881
Mosaic Monosomy X
Premature ovarian insufficiency, Female infertility, Hashimoto thyroiditis, High urinary gonadotr... ORPHA:99228
Monosomy X
Premature ovarian insufficiency, Female infertility, Hashimoto thyroiditis, High urinary gonadotr... ORPHA:99226
Vipoma
Neoplasm of the pancreas, Diabetes mellitus, Follicular thyroid carcinoma, Elevated circulating g... ORPHA:97282
Grfoma
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Neoplasm of the thym... ORPHA:97261
Multiple Endocrine Neoplasia, Type I
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Pituitary adeno... OMIM:131100
Pallister-Hall Syndrome
Small scrotum, Adrenal hypoplasia, Gonadotropin deficiency, Micropenis, Aplasia/hypoplasia of the... ORPHA:672
Somatostatinoma
Neoplasm of the pancreas, Diabetes mellitus, Elevated circulating growth hormone concentration, A... ORPHA:97283
Alg9-Cdg
Bicornuate uterus, Hypoplastic nipples, Hypoplasia of the ovary ORPHA:79328
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Ovarian cyst, Precocious puberty with Sertoli cell tumor, Uterine neoplasm OMIM:175200
Cln3 Disease
Increased circulating androgen concentration ORPHA:228346
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... OMIM:610755
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Meacham Syndrome
Male pseudohermaphroditism, Blind vagina, Bicornuate uterus, Septate vagina OMIM:608978
Oeis Complex
Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Amb... OMIM:258040
Zollinger-Ellison Syndrome
Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ... ORPHA:913
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Septate vagina, Bicornuate uterus, Rectovaginal fistula, Labial hypoplasia, Clitoral hypertrophy OMIM:300707
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Absence of ... OMIM:129900
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Absence of ... OMIM:604292
Glucagonoma
Neoplasm of the pancreas, Diabetes mellitus, Elevated circulating growth hormone concentration, A... ORPHA:97280
Insulin-Like Growth Factor I Deficiency
Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone concentration OMIM:608747
Ciliary Dyskinesia, Primary, 19
Male infertility, Absent inner and outer dynein arms OMIM:614935
Chromosome 17Q12 Deletion Syndrome
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus OMIM:614527
Cystic Echinococcosis
Ovarian cyst, Abnormality of the testis size ORPHA:400
Pontocerebellar Hypoplasia Type 7
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... ORPHA:284339
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hypoplastic labia majora, Vaginal atresia, Fused labia minora OMIM:207410
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia OMIM:271520
Exstrophy-Epispadias Complex
Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ma... ORPHA:322
Peters Plus Syndrome
Hypospadias, Cryptorchidism, Congenital hypothyroidism, Hypoplasia of the uterus, Clitoral hypopl... ORPHA:709
Bronchial Neuroendocrine Tumor
Elevated circulating growth hormone concentration, Increased circulating ACTH level, Pulmonary ca... ORPHA:97287
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Hypospadias, Septate vagina, Precocious puberty, Cryptorchidism, Bi... OMIM:270400
Currarino Syndrome
Bicornuate uterus, Rectovaginal fistula, Septate vagina OMIM:176450
Hemihyperplasia-Multiple Lipomatosis Syndrome
Hydrocele testis, Ovarian serous cystadenoma ORPHA:276280
Townes-Brocks Syndrome 2
Rectovaginal fistula, Hypospadias, Bifid uterus OMIM:617466
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Micropenis, Uterus didelphys, Septate vagina OMIM:617925
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Pituitary adenoma, Pheochromocytoma, Thyroid c... OMIM:160980
Bloom Syndrome
Male infertility, Diabetes mellitus, Premature ovarian insufficiency, Oligozoospermia, Azoospermia ORPHA:125
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Ovarian cyst ORPHA:454840
Schinzel-Giedion Syndrome
Streak ovary, Hypospadias, Annular pancreas, Central hypothyroidism, Micropenis ORPHA:798
Manitoba Oculotrichoanal Syndrome
Vaginal atresia OMIM:248450
Wiedemann-Rautenstrauch Syndrome
Hyperthyroidism, Hypogonadotropic hypogonadism, Hypospadias, Decreased response to growth hormone... ORPHA:3455
Tetraamelia Syndrome 1
Adrenal gland agenesis, Hypoplasia of the fallopian tube, Vaginal atresia, Absent external genitalia OMIM:273395
Fraser Syndrome
Hypoplasia of penis, Small scrotum, Hypospadias, Cryptorchidism, Bicornuate uterus, Ambiguous gen... ORPHA:2052
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Delayed puberty, Breas... OMIM:181450
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Apert Syndrome
Cryptorchidism, Vaginal atresia, Hyperhidrosis OMIM:101200
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the vagina, Aplasia of the uterus ORPHA:457284
Wiedemann-Rautenstrauch Syndrome
Hypospadias, Cryptorchidism, Long penis, Hypoplasia of the thymus, Increased serum testosterone l... OMIM:264090
Microphthalmia, Syndromic 2
Hypospadias, Septate vagina, Cryptorchidism, Adrenal insufficiency, Hypothyroidism OMIM:300166
Waardenburg Syndrome, Type 1
Aplasia of the vagina OMIM:193500
Johanson-Blizzard Syndrome
Diabetes mellitus, Hypospadias, Urethrovaginal fistula, Septate vagina, Cryptorchidism, Rectovagi... OMIM:243800
Fraser Syndrome 1
Hypospadias, Cryptorchidism, Bicornuate uterus, Abnormal thymus morphology, Micropenis, Vaginal a... OMIM:219000
Cardiac-Urogenital Syndrome
Bifid scrotum, Unilateral cryptorchidism, Cryptorchidism, Aplasia of the uterus, Ambiguous genita... OMIM:618280
Ciliary Dyskinesia, Primary, 1
Male infertility, Absent outer dynein arms OMIM:244400
Cystinosis, Nephropathic
Male infertility, Diabetes mellitus, Hypohidrosis, Primary hypothyroidism, Delayed puberty, Male ... OMIM:219800
Noonan Syndrome 1
Hypogonadism, Cryptorchidism, Hypospadias, Male infertility OMIM:163950
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hydrometrocolpos, Vaginal atresia OMIM:617088
Chand Syndrome
Imperforate hymen, Hypohidrosis ORPHA:1401
Alström Syndrome
Precocious puberty in females, Hypergonadotropic hypogonadism, Decreased response to growth hormo... ORPHA:64
Pseudoleprechaunism Syndrome, Patterson Type
Premature adrenarche, Diabetes mellitus, Increased circulating androgen concentration ORPHA:2976
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Hypospadias, Cryptorchidism, Hydrocele testis, Chordee, Hematocolpos, Imperforate hymen OMIM:619522
Trichorhinophalangeal Syndrome, Type Ii
Bilateral cryptorchidism, Hypohidrosis, Hydrometrocolpos, Hyperhidrosis OMIM:150230
Pachydermoperiostosis
Elevated circulating growth hormone concentration, Hyperhidrosis ORPHA:2796
Mowat-Wilson Syndrome
Bifid scrotum, Hypospadias, Septate vagina, Cryptorchidism, Hydrocele testis, Chordee, Oligomenor... ORPHA:2152
Adams-Oliver Syndrome 1
Imperforate hymen, Supernumerary nipple OMIM:100300
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Hypospadias, Septate vagina, Cryptorchidism, Hydrocele testis, Chordee, Webbed pen... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Hypospadias, Septate vagina, Cryptorchidism, Hydrocele testis, Chordee, Webbed pen... ORPHA:261552
Cystic Fibrosis
Male infertility, Pancreatitis, Exocrine pancreatic insufficiency OMIM:219700

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Lhx9

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Lhx9.

No publications found that use IMPC mice or data for Lhx9.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Lhx9tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Lhx9tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Lhx9tm41478(L1L2_gt2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Lhx9tm41477(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Lhx9tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Lhx9tm41476(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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