Gene Summary

Name:
follicle stimulating hormone receptor
Synonyms:
follicle-stimulating hormone receptor,  FSH-R,  Follitropin receptor

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased fasting circulating glucose level Fshrtm1(KOMP)Vlcg HOM Early adult 2.90×10-05
abnormal startle reflex Fshrtm1(KOMP)Vlcg HOM Early adult 9.45×10-05
decreased bone mineral content Fshrtm1(KOMP)Vlcg HOM Early adult 1.98×10-11
decreased lean body mass Fshrtm1(KOMP)Vlcg HOM Early adult 8.46×10-08
decreased bone mineral density Fshrtm1(KOMP)Vlcg HOM Early adult 2.30×10-05
increased total body fat amount Fshrtm1(KOMP)Vlcg HOM Early adult 1.25×10-07

Download data as:  TSV  XLS

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Viewing: all phenotypes

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 Fshr 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.

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Premature Ovarian Failure 6
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Fe... OMIM:612310
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Ovarian Dysgenesis 7
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:618117
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Primary amenorrhea, ... OMIM:273250
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Ovarian Dysgenesis 10
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr... OMIM:619834
Premature Ovarian Failure 7
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... OMIM:612964
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Ovarian Dysgenesis 5
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:617690
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... OMIM:614129
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Premature Ovarian Failure 8
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Premature Ovarian Failure 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... OMIM:615724
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... OMIM:619949
Hypogonadism-Cataract Syndrome
Male hypogonadism, Elevated circulating follicle stimulating hormone level, Hypogonadism, Inferti... OMIM:240950
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... OMIM:229070
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
Premature Ovarian Failure 16
Elevated circulating follicle stimulating hormone level, Premature ovarian insufficiency, Decreas... OMIM:618723
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Primary amenorrhea, Blind vagina, Elevated circul... OMIM:300068
Spermatogenic Failure 14
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... OMIM:615842
Pituicytoma
Hypopituitarism, Decreased female libido, Hypogonadotropic hypogonadism, Decreased response to gr... ORPHA:251623
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 21
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... OMIM:620311
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... OMIM:228300
Ovarian Dysgenesis 3
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... OMIM:614324
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperlordosis, Cryptorchidism, Kyphosis, Short toe, Hyperinsuline... ORPHA:3085
Functioning Gonadotropic Adenoma
Osteopenia, Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell ad... ORPHA:91348
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... ORPHA:529970
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea ORPHA:397685
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Isochromosomy Yp
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... ORPHA:98797
46,Xy Sex Reversal 1
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... OMIM:400044
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... OMIM:614841
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
X-Linked Intellectual Disability, Van Esch Type
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... ORPHA:163976
Premature Ovarian Failure 15
Irregular menstruation, Secondary amenorrhea, Elevated circulating follicle stimulating hormone l... OMIM:618096
Complete Androgen Insensitivity Syndrome
Male infertility, Tall stature, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated... ORPHA:99429
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... OMIM:616950
Leydig Cell Hypoplasia
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... ORPHA:755
49,Xyyyy Syndrome
Eunuchoid habitus, Abnormality of the epiphyses of the elbow, External genital hypoplasia, Abnorm... ORPHA:99330
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
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
Congenital Generalized Lipodystrophy
Adipose tissue loss, Proportionate tall stature, Hepatic steatosis, Hepatomegaly, Bone cyst, Larg... ORPHA:528
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Ovarian Fibrothecoma
Diffuse leiomyomatosis, Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Abnormal ... ORPHA:314478
Müllerian Aplasia And Hyperandrogenism
Short neck, Obesity, Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosterone l... ORPHA:247768
Chromosome Xq27.3-Q28 Duplication Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Hypogonadism, Decreased serum testoster... OMIM:300869
49,Xxxyy Syndrome
Decreased serum testosterone concentration, External genital hypoplasia, Abnormality of the testi... ORPHA:261534
X-Linked Intellectual Disability, Cilliers Type
Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Increased circulating gonadotropin l... ORPHA:163971
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Reduced bone mineral density, Ambiguous genitalia, male, ... ORPHA:90796
Normosmic Congenital Hypogonadotropic Hypogonadism
Osteopenia, Generalized joint laxity, Male hypogonadism, Micropenis, Hypogonadotropic hypogonadis... ORPHA:432
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:618841
Ovarian Dysgenesis 4
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Primary ameno... OMIM:616185
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Premature Ovarian Failure 14
Elevated circulating luteinizing hormone level, Decreased serum estradiol, Elevated circulating f... OMIM:618014
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... OMIM:612965
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Ovarian Dysgenesis 8
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplastic labia majora, Dec... OMIM:618187
Premature Ovarian Failure 2A
Elevated circulating luteinizing hormone level, Premature ovarian insufficiency, Elevated circula... OMIM:300511
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Xp22.3 Microdeletion Syndrome
Sacral dimple, Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycyst... ORPHA:1643
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... ORPHA:399808
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
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
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Polyembryoma
Abnormal circulating gonadotropin concentration, Neoplasm of head and neck, Isosexual precocious ... ORPHA:180229
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... ORPHA:280356
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Ambiguous genitalia, female, Ambiguous genitalia, male, Inc... ORPHA:90791
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Ovarian Dysgenesis 2
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh... OMIM:300510
Mccune-Albright Syndrome
Abnormal femur morphology, Aneurysmal bone cyst, Hyperthyroidism, Osteomalacia, Precocious pubert... ORPHA:562
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
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 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Premature Ovarian Failure 20
Secondary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follic... OMIM:619938
Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome
Decreased testicular size ORPHA:436144
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone... OMIM:616030
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Decreased circulating renin level, Isosexual precocious pub... ORPHA:90795
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... OMIM:619613
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
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
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 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula... OMIM:614897
Premature Ovarian Failure 11
Elevated circulating follicle stimulating hormone level, Oligomenorrhea, Secondary amenorrhea OMIM:616946
Spermatogenic Failure 8
Azoospermia, Cryptozoospermia, Oligozoospermia OMIM:613957
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Osteopenia, Decreased serum estradiol, Triphalangeal thumb, Aplasia of the ovary, Aplasia/hypopla... ORPHA:2232
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Isochromosomy Yq
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... ORPHA:98798
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se... ORPHA:206484
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... OMIM:619326
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Gonadal dysgenesis, Primary amenorrhea OMIM:233300
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second... OMIM:617565
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Hydatidiform Mole
Menometrorrhagia, Hyperthyroidism, Enlarged uterus ORPHA:99927
Aarskog-Scott Syndrome
Hyperextensibility of the finger joints, Short neck, Bilateral cryptorchidism, Short palm, Joint ... OMIM:305400
Prader-Willi syndrome (Type 1)
Truncal obesity, Hypogonadism DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity, Hypogonadism DECIPHER:53
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614837
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Precocious Puberty, Central, 1
Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti... OMIM:176400
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Reduced bone mineral density, Sex rever... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Reduced bone min... ORPHA:289548
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Syndromic X-Linked Intellectual Disability 7
Hypoplasia of penis, Tapered finger, Cryptorchidism, Obesity, Hypogonadism, Micropenis ORPHA:85274
Hyperprolactinemia
Female infertility, Menorrhagia, Oligomenorrhea, Increased circulating prolactin concentration OMIM:615555
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Absence of pubertal development, Primar... OMIM:618078
Cortisone Reductase Deficiency 1
Precocious puberty, Obesity, Infertility, Oligomenorrhea OMIM:604931
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Kyphosis, Joint hyperflexibility, Hypogonadism, Congenital muscular dy... ORPHA:1875
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... ORPHA:90794
Premature Ovarian Failure 5
Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas... OMIM:611548
Pseudohypoparathyroidism Type 1C
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:79444
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Ataxia-Telangiectasia
Lymphopenia, Failure to thrive, Diabetes mellitus, Skeletal muscle atrophy, Polycystic ovaries, N... ORPHA:100
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve... OMIM:614839
Rothmund-Thomson Syndrome Type 1
Osteopenia, Aplastic anemia, Patellar hypoplasia, Squamous cell carcinoma, Facial erythema, Neutr... ORPHA:221008
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decrease... ORPHA:453533
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614840
Premature Ovarian Failure 1
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation OMIM:311360
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ... OMIM:615300
Bardet-Biedl Syndrome 5
Syndactyly, External genital hypoplasia, Obesity, Hypogonadism, Polydactyly, Micropenis, Brachyda... OMIM:615983
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... ORPHA:1916
Maternal Uniparental Disomy Of Chromosome 6
Inguinal hernia, Thrombocytopenia, Hydrocele testis, Slender long bone, Increased serum testoster... ORPHA:96181
Spermatogenic Failure, X-Linked, 1
Sertoli cell-only phenotype, Obesity OMIM:305700
Acromesomelic Dysplasia 3
Short phalanx of finger, Hypoplasia of the ulna, Elevated circulating luteinizing hormone level, ... OMIM:609441
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased muscle mass, Cardiomegaly, Stiff interphalangeal joints, Hypothyroidism, Hepatomegaly, ... ORPHA:465508
Testicular Agenesis
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... ORPHA:325124
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Short foot, Cryptorchidism, Obesity, Tapered finger OMIM:309585
46,Xx Sex Reversal 1
True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, Ovotestis, Sex... OMIM:400045
Pseudohypoparathyroidism Type 1A
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:79443
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Spermatogenic Failure 24
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... OMIM:617959
Rudiger Syndrome
Inguinal hernia, Flexion contracture, Ovarian cyst, Bicornuate uterus, Micropenis, Short digit OMIM:268650
Endometriosis, Susceptibility To, 1
Decreased fertility, Dysmenorrhea, Endometriosis OMIM:131200
Borjeson-Forssman-Lehmann Syndrome
Shortening of all middle phalanges of the fingers, Tapered finger, Cryptorchidism, Kyphosis, Shor... OMIM:301900
Donohue Syndrome
Skeletal muscle atrophy, Precocious puberty, Adipose tissue loss, Long penis, Hyperinsulinemia, C... OMIM:246200
Hypergonadotropic Hypogonadism-Cataract Syndrome
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of secondary se... ORPHA:2410
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
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 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... OMIM:300845
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Obesity, Oligomenorrhea, Amenorrhea OMIM:184700
Xp22.13P22.2 Duplication Syndrome
Congenital diaphragmatic hernia, Short neck, Tapered finger, Small hand, 2-3 toe syndactyly, Poly... ORPHA:284180
Progeria-Short Stature-Pigmented Nevi Syndrome
Osteopenia, Thoracic scoliosis, Multiple joint contractures, Lack of facial subcutaneous fat, Mic... ORPHA:2959
Estrogen Resistance
Increased circulating osteocalcin level, Elevated alkaline phosphatase of bone origin, Hyperinsul... OMIM:615363
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Back pain, Abnormal thoracic spine morphology, Brain neoplasm, Metrorrh... ORPHA:370348
Lipodystrophy, Partial, Acquired, Susceptibility To
Diabetes mellitus, Polycystic ovaries, Progressive loss of facial adipose tissue, Loss of truncal... OMIM:608709
Premature Ovarian Failure 3
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea OMIM:608996
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Proximal muscle weakness in upper lim... ORPHA:435660
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Short metatarsa... ORPHA:1772
Seckel Syndrome 5
11 pairs of ribs, Hypospadias, Abnormal cortical gyration, Cryptorchidism, Simplified gyral patte... OMIM:613823
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Cerebellar atrophy, Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Insulin-resist... OMIM:268020
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased HDL ... OMIM:604367
46,Xx Gonadal Dysgenesis
Osteopenia, Streak ovary, Premature ovarian insufficiency, Arachnodactyly, Increased circulating ... ORPHA:243
C Syndrome
Omphalocele, Fused sternal ossification centers, Short metacarpal, Toe syndactyly, Hepatomegaly, ... OMIM:211750
Preeclampsia
Increased body mass index, Small for gestational age, Elevated circulating creatinine concentrati... ORPHA:275555
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Kyphoscoliosis, Secondary amenorrhea, Irregular vertebral endplates, Platyspondyly, Lumbar scolio... OMIM:612847
Xq27.3Q28 Duplication Syndrome
Cryptorchidism, Small hand, Short foot, Truncal obesity, Hypogonadism, Failure to thrive, Decreas... ORPHA:261483
Renal Hypodysplasia/Aplasia 1
Bicornuate uterus, Vaginal atresia, Primary amenorrhea OMIM:191830
Bardet-Biedl Syndrome 10
Hypogonadism, Obesity, Renal cyst OMIM:615987
Ane Syndrome
Decreased serum insulin-like growth factor 1, Multiple joint contractures, Lipoatrophy, Decreased... ORPHA:157954
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Increased circulating androstenedione concentrati... OMIM:202010
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus, Long penis, H... OMIM:262190
Vaginal Atresia
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ... ORPHA:65681
Fibrous Dysplasia Of Bone
Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Thyroid carcinoma, Neoplasm of t... ORPHA:249
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Obesity, Primary amenorrhea, Hypogonadism, Micropenis, Decreased testicul... OMIM:614962
46,Xx Sex Reversal 5
Ambiguous genitalia, Aplasia of the left hemidiaphragm, Urogenital sinus anomaly, Increased serum... OMIM:618901
Seckel Syndrome 1
11 pairs of ribs, Ivory epiphyses, Pancytopenia, Hypospadias, Abnormal finger flexion crease, San... OMIM:210600
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Myoectodermal Gonadal Dysgenesis Syndrome
Omphalocele, Accessory spleen, Small for gestational age, Diastasis recti, Elevated circulating l... OMIM:618419
Hepatic Adenomas, Familial
Maturity-onset diabetes of the young, Polycystic ovaries OMIM:142330
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Hyperinsulinemia, Polycystic ovaries, Hepatic steat... ORPHA:79084
Silver-Russell Syndrome
Abnormality of male external genitalia, Decreased muscle mass, Hypospadias, Failure to thrive in ... ORPHA:813
Rothmund-Thomson Syndrome Type 2
Osteopenia, Aplastic anemia, Patellar hypoplasia, Squamous cell carcinoma, Facial erythema, Neutr... ORPHA:221016
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the... OMIM:614842
Distal Deletion 10P
Hypoplasia of penis, Short neck, Joint stiffness, Cryptorchidism, Polycystic ovaries, Clinodactyl... ORPHA:1580
Renal, Genital, And Middle Ear Anomalies
Vaginal atresia OMIM:267400
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435651
Pparg-Related Familial Partial Lipodystrophy
Dysmenorrhea, Maternal diabetes, Hepatic steatosis, Loss of facial adipose tissue, Hepatomegaly, ... ORPHA:79083
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Failure to thrive, Metatarsus adductus, Cryptorchi... OMIM:214110
Lipodystrophy, Congenital Generalized, Type 2
Hepatic steatosis, Hepatomegaly, Clitoral hypertrophy, Generalized muscular appearance from birth... OMIM:269700
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Streak ovary, Premature ovarian insufficiency, Hypopl... ORPHA:3464
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Perianal erythema, Splenomegaly, Dry skin, Decreased serum zinc, Hypogonadism, Peri... OMIM:201100
Lipodystrophy, Congenital Generalized, Type 1
Hepatic steatosis, Hepatomegaly, Clitoral hypertrophy, Generalized muscular appearance from birth... OMIM:608594
Pigmented Nodular Adrenocortical Disease, Primary, 2
Osteopenia, Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secreti... OMIM:610475
Morbid Obesity And Spermatogenic Failure
Azoospermia, Type II diabetes mellitus, Infertility, Oligozoospermia OMIM:615703
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Oocyte/Zygote/Embryo Maturation Arrest 10
Miscarriage, Female infertility OMIM:619176
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Deviation of finger, ... ORPHA:1227
Insulin-Resistance Syndrome Type B
Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Leukopenia, Hypoalbuminemia, Abn... ORPHA:2298
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hypoplasia of penis, Cryptorchidism, Obesity, Aplasia/Hypoplasia of the testes, Hernia of the abd... ORPHA:3055
Familial Partial Lipodystrophy, Dunnigan Type
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipoatrophy, Lipod... ORPHA:2348
Pseudohermaphroditism, Female, With Skeletal Anomalies
Ambiguous genitalia, Primary amenorrhea, Clitoral hypertrophy, Ulnar radial head dislocation OMIM:264270
Bardet-Biedl Syndrome 6
Vaginal atresia, Diabetes mellitus, Hypospadias, External genital hypoplasia OMIM:605231
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating luteinizing hormone level, Breast aplasia, Elevated circulating follicle sti... ORPHA:3044
Tetragametic Chimerism
Bifid scrotum, Blood group antigen abnormality, True hermaphroditism, Ovotestis, Cryptorchidism, ... ORPHA:199310
Frasier Syndrome
Gonadal dysgenesis, Male pseudohermaphroditism, Primary amenorrhea, Ovarian gonadoblastoma OMIM:136680
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Eosinophilia, Abnormality of the testis size, Perit... ORPHA:400
Bardet-Biedl Syndrome 4
Syndactyly, External genital hypoplasia, Cryptorchidism, Obesity, Renal cyst, Hypogonadism, Polyd... OMIM:615982
Werner Syndrome
Skeletal muscle atrophy, Squamous cell carcinoma, Neoplasm, Thyroid carcinoma, Sarcoma, Renal neo... ORPHA:902
Estrogen Resistance Syndrome
Osteopenia, Enlarged polycystic ovaries, Delayed epiphyseal ossification, Increased circulating g... ORPHA:785
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... OMIM:620356
Moynahan Syndrome
Hypogonadism, Cachexia ORPHA:2574
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary, Premature ovarian insufficiency OMIM:609993
Satoyoshi Syndrome
Hyperlordosis, Nephrogenic diabetes insipidus, Tapered finger, Abnormality of the humerus, Genu v... ORPHA:3130
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... ORPHA:79085
Frasier Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Male pseudohermaphroditism, Increased circulating g... ORPHA:347
Rabson-Mendenhall Syndrome
Reduced subcutaneous adipose tissue, Enlarged ovaries, Precocious puberty, Hypothyroidism, Insuli... ORPHA:769
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormal morphology of ulna, Short neck, Obesity, Decreased fertility, Hypogonadism, Abnormal met... ORPHA:2233
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Hemiverte... OMIM:201750
Bardet-Biedl Syndrome 16
External genital hypoplasia, Obesity, Renal cyst, Polydactyly, Hypogonadism OMIM:615993
Hereditary Leiomyomatosis And Renal Cell Cancer
Barrett esophagus, Multiple cutaneous leiomyomas, Vaginal neoplasm, Esophageal neoplasm, Papillar... ORPHA:523
Cowden Syndrome 1
Hyperthyroidism, Kyphosis, Fibroadenoma of the breast, Thyroiditis, Breast carcinoma, Carcinoma, ... OMIM:158350
Zellweger Syndrome
Hepatomegaly, Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Jaundice, Primary adrena... ORPHA:912
Mcdonough Syndrome
Cachexia, Cryptorchidism, Kyphosis, Aplasia/Hypoplasia of the abdominal wall musculature, Scoliosis ORPHA:2471
Perrault Syndrome 1
Increased circulating gonadotropin level, Osteoporosis, Primary amenorrhea, Gonadal dysgenesis, T... OMIM:233400
Mehmo Syndrome
Hypoplasia of penis, Diabetes mellitus, External genital hypoplasia, Tapered finger, Cryptorchidi... ORPHA:85282
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Carney Complex
Hepatocellular carcinoma, Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, ... ORPHA:1359
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... ORPHA:327
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Familial Colorectal Cancer Type X
Neoplasm of the pancreas, Glioblastoma multiforme, Pancreatic adenocarcinoma, Gastrointestinal he... ORPHA:440437
Autoinflammatory Disease, Familial, Behcet-Like 3
Vaginal mucosal ulceration OMIM:618287
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Dyspareunia, Partial vaginal septum, Metrorrhagia, Abnormal uterine cervix morphology, Dysmenorrh... ORPHA:3411
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... OMIM:610489
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
Luscan-Lumish Syndrome
Overgrowth, Irregular menstruation, Obesity, Polycystic ovaries OMIM:616831
Methemoglobinemia And Ambiguous Genitalia
Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ... OMIM:250790
Cowden Syndrome 6
Hyperthyroidism, Kyphosis, Fibroadenoma of the breast, Thyroiditis, Breast carcinoma, Hydrocele t... OMIM:615109
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty OMIM:300604
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu... OMIM:278850
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Dysmenorrhea, Elevated circulating creatine kinase concentration, Increa... ORPHA:264580
Central Precocious Puberty In Male
Abnormality of the testis size, Pituitary microadenoma, Hypothalamic hamartoma, Abnormal response... ORPHA:649929
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
Temple Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... ORPHA:254516
Adenohypophysitis
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... ORPHA:95512
Full Schwannomatosis
Neoplasm of the anterior pituitary, Bilateral vestibular schwannoma, Schwannoma, Peripheral schwa... ORPHA:93921
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
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre... OMIM:146110
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Hypoplasia of penis, Small scrotum, Short neck, Abnormality of the thyroid gla... ORPHA:2234
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased HDL cholesterol concentration, Dysmenorrhea, Acroosteolysis of distal phalanges (feet),... ORPHA:280365
Cowden Syndrome 5
Hyperthyroidism, Kyphosis, Thyroiditis, Breast carcinoma, Hydrocele testis, Ovarian cyst, Hamarto... OMIM:615108
Diencephalic Syndrome
Cachexia, Long penis, Hyperhidrosis, Large hands, Neoplasm of the nervous system, Decreased body ... ORPHA:1672
Renpenning Syndrome
Skeletal muscle atrophy, Diabetes mellitus, Hypospadias, Cachexia, Joint stiffness, Abnormal thum... ORPHA:3242
Myotonic Dystrophy 2
Type II diabetes mellitus, Hypogonadism, Elevated circulating follicle stimulating hormone level,... OMIM:602668
Glucocorticoid Resistance, Generalized
Irregular menstruation, Increased circulating ACTH level, Increased circulating cortisol level, I... OMIM:615962
Temple Syndrome
Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Precocious... OMIM:616222
Panhypophysitis
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... ORPHA:95513
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... ORPHA:64739
X-Linked Intellectual Disability, Siderius Type
Cryptorchidism, Decreased testicular size ORPHA:85287
46,Xy Sex Reversal 5
Sex reversal, Elevated circulating follicle stimulating hormone level OMIM:613080
X-Linked Intellectual Disability, Cabezas Type
Inguinal hernia, Hypoplasia of penis, Toe syndactyly, Camptodactyly of finger, Cachexia, Short ne... ORPHA:85293
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Fowler Urethral Sphincter Dysfunction Syndrome
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea ORPHA:2795
Riboflavin Transporter Deficiency
Skeletal muscle atrophy, Facial palsy, Cachexia, Hypogonadism, Limb muscle weakness, Diabetes ins... ORPHA:97229
Aromatase Deficiency
Osteopenia, Macroorchidism, postpubertal, Male infertility, Eunuchoid habitus, Hypergonadotropic ... ORPHA:91
Meier-Gorlin Syndrome 1
Flexion contracture, Hemivertebrae, Flat glenoid fossa, Cutaneous finger syndactyly, Short palm, ... OMIM:224690
Bardet-Biedl Syndrome 12
Hypogonadism, Hydrometrocolpos, Vaginal atresia OMIM:615989
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Short neck, Obesity, Azoospermia, Abnormality of the hypothalamus... ORPHA:2183
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Small for gestational age, Short neck, Thrombocytopenia, Micronodular... OMIM:606003
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati... ORPHA:572333
Solitary Fibrous Tumor
Vaginal neoplasm, Soft tissue neoplasm, Genital neoplasm, Neoplasm of the lung, Neoplasm of the n... ORPHA:2126
Bardet-Biedl Syndrome 1
Hepatic fibrosis, Micropenis, Syndactyly, Nephrogenic diabetes insipidus, Obesity, Postaxial foot... OMIM:209900
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Isolated Splenogonadal Fusion
Abnormal penis morphology, Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circula... ORPHA:457083
Maffucci Syndrome
Neoplasm of the adrenal cortex, Sarcoma, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm o... ORPHA:163634
Mehmo Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Obesity, Delaye... OMIM:300148
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Cachexia, Testicular neop... ORPHA:83469
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Hypertriglyceridemia, Dysmenorrhea, Elevated circulating c... ORPHA:79240
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation OMIM:261550
Bardet-Biedl Syndrome
Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Skeletal muscle atrophy, Sh... ORPHA:110
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Prematu... OMIM:241080
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Schwannoma, Bladder carcinoma, Breast carcinoma, Ovarian neoplasm, Hod... ORPHA:157798
Thyroid Cancer, Nonmedullary, 4
Ovarian neoplasm, Basal cell carcinoma, Papillary thyroid carcinoma, Prostate cancer, Goiter OMIM:616534
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Toe syndactyly, Recurrent fractures, Camptodactyly of finger, Short neck, Cr... ORPHA:3409
48,Xxyy Syndrome
Inguinal hernia, Hypoplasia of penis, Hypergonadotropic hypogonadism, Abnormal dental enamel morp... ORPHA:10
Peroxisome Biogenesis Disorder 1A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Ulnar deviation of the hand, Hypospadias, Rocker b... OMIM:214100
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries ORPHA:2228
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Deformed humerus, Abnormalit... ORPHA:2975
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Abnormal va... OMIM:194072
Hereditary Breast And/Or Ovarian Cancer Syndrome
Neoplasm of the pancreas, Breast carcinoma, Ovarian neoplasm, Melanoma, Prostate cancer, Abnormal... ORPHA:145
Paternal Uniparental Disomy Of Chromosome X
Decreased testicular size, Micropenis, Infertility ORPHA:261524
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus OMIM:601076
Retinitis Pigmentosa
Hypoplasia of penis, Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II ... ORPHA:791
Genitopatellar Syndrome
Hip contracture, Multicystic kidney dysplasia, Small scrotum, Hypoplastic ischia, Hypoplastic ili... ORPHA:85201
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... OMIM:615234
Autosomal Recessive Spastic Paraplegia Type 26
Decreased serum testosterone concentration, Premature ovarian insufficiency ORPHA:101006
Sim1-Related Prader-Willi-Like Syndrome
Osteopenia, Small scrotum, External genital hypoplasia, Xerostomia, Clitoral hypoplasia, Prematur... ORPHA:398079
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Gonadal dysgenesis, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:607080
Carpenter Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, External genital hypoplasia, Craniosynostosis, Kyp... ORPHA:65759
Schaaf-Yang Syndrome
Failure to thrive in infancy, Rocker bottom foot, Tapered finger, Cryptorchidism, Kyphosis, Flexi... OMIM:615547
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Inguinal hernia, Redundant neck skin, Short neck, Cryptorchidism, Pancreatic lympha... ORPHA:1655
Meier-Gorlin Syndrome 3
Absent sternal ossification, Small scrotum, Hypospadias, Aplasia/Hypoplasia of the patella, Crypt... OMIM:613803
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Osteopenia, Small scrotum, External genital hypoplasia, Decreased response to growth hormone stim... ORPHA:98754
Li-Fraumeni Syndrome
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... ORPHA:524
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Decreased response to growth hormone stimulation test, Precocious puberty, Pituitary adenoma, Adr... ORPHA:91354
Autosomal Recessive Spastic Paraplegia Type 46
Reduced sperm motility, Infertility, Abnormal sperm morphology, Decreased testicular size, Abnorm... ORPHA:320391
Seckel Syndrome 7
Abnormal carpal morphology, Primary amenorrhea, Central hypothyroidism, Hypoplasia of the uterus,... OMIM:614851
Infantile Systemic Hyalinosis
Osteopenia, Osteomalacia, Camptodactyly of finger, Recurrent fractures, Joint stiffness, Short ne... ORPHA:2176
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Obesity, Primary amenorrhea, Ab... OMIM:610628
Wilson-Turner Syndrome
Hypogonadotropic hypogonadism, Tapered finger, Cryptorchidism, Small hand, Short foot, Truncal ob... ORPHA:3459
Short Syndrome
Joint laxity, Enlarged epiphyses, Inguinal hernia, Lipoatrophy, Lipodystrophy, Small for gestatio... OMIM:269880
Post-Traumatic Pituitary Deficiency
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c... ORPHA:95619
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Splenic rupture, Clubbing of fingers, Left ventricular hypertrophy, Mic... ORPHA:335
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Joint laxity, Distal lower limb amyotrophy, Hypospadias, Sandal gap, Cryptorchidism, Kyphosis, Sm... OMIM:300354
Bardet-Biedl Syndrome 7
Postaxial polydactyly, Obesity, 2-3 toe syndactyly, Hypogonadism, Polydactyly, Clinodactyly OMIM:615984
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Osteopenia, Small scrotum, External genital hypoplasia, Decreased response to growth hormone stim... ORPHA:98793
46,Xx Sex Reversal 4
Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am... OMIM:617480
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... ORPHA:91351
Ovarian Cancer
Breast carcinoma, Ovarian papillary adenocarcinoma, Dysgerminoma OMIM:167000
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Osteopenia, Small scrotum, External genital hypoplasia, Decreased response to growth hormone stim... ORPHA:177904
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased muscle mass, Foot dorsiflexor weakness, Hypergonadotropic hypogonadism, Hypogonadotropi... ORPHA:298
46,Xy Sex Reversal 6
Hypospadias, Sex reversal, Gonadal dysgenesis, Chordee, Dysgerminoma, Gonadoblastoma, Clitoral hy... OMIM:613762
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Hypogon... ORPHA:478
Asherman Syndrome
Metrorrhagia, Dysmenorrhea, Miscarriage, Abnormality of the menstrual cycle, Decreased fertility ... ORPHA:137686
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Osteopenia, Small scrotum, External genital hypoplasia, Decreased response to growth hormone stim... ORPHA:177901
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, External genital hypoplasia, Small hand, Obesity, Short foot, Abno... ORPHA:177910
Peroxisome Biogenesis Disorder 5A (Zellweger)
Conjugated hyperbilirubinemia, Renal cyst, Pachygyria, Intrahepatic biliary dysgenesis, Hepatomeg... OMIM:614866
Amed Syndrome, Digenic
Acute myeloid leukemia, Adrenal hypoplasia, Myelodysplasia, Thrombocytopenia, Hypoplasia of the u... OMIM:619151
Pituitary Gigantism
Tall stature, Elevated circulating growth hormone concentration, Amenorrhea, Hyperhidrosis, Incre... ORPHA:99725
Testicular Anomalies With Or Without Congenital Heart Disease
Corpus cavernosum hypoplasia, Abnormality of thyroid physiology, Cryptorchidism, Testicular dysge... OMIM:615542
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... OMIM:300200
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Short neck, Knee flexion contractur... ORPHA:3103
Laurence-Moon Syndrome
Finger syndactyly, Hypoplasia of penis, Cryptorchidism, Congenital hepatic fibrosis, Obesity, Han... ORPHA:2377
Breast-Ovarian Cancer, Familial, Susceptibility To, 2
Breast carcinoma, Ovarian neoplasm OMIM:612555
Breast-Ovarian Cancer, Familial, Susceptibility To, 1
Breast carcinoma, Ovarian neoplasm OMIM:604370
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Reduced subcutaneous adipose tissue, Hyperextensibility of the finger joints, Decreased muscle ma... ORPHA:3041
Breast-Ovarian Cancer, Familial, Susceptibility To, 3
Ovarian carcinoma, Breast carcinoma OMIM:613399
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidi... ORPHA:96184
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Bent Bone Dysplasia Syndrome 1
Bent long bone, Hypoplastic pubic bone, Hepatosplenomegaly, Decreased calvarial ossification, Sho... OMIM:614592
Aica-Ribosiduria
Fused labia minora, Clitoral hypertrophy ORPHA:250977
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypospadias, External genital hypoplasia, Laryngeal carcinoma, Ovotestis, C... OMIM:610644
Genitourinary And/Or Brain Malformation Syndrome
Omphalocele, Syndactyly, Streak ovary, Hypospadias, Kyphoscoliosis, Joint stiffness, Cryptorchidi... OMIM:618820
Meier-Gorlin Syndrome 7
Joint laxity, 2-4 finger syndactyly, Hypospadias, Craniosynostosis, Sagittal craniosynostosis, Bo... OMIM:617063
Microcephaly 20, Primary, Autosomal Recessive
Hypoplasia of the uterus, Vaginal atresia OMIM:617914
Seckel Syndrome 9
Small for gestational age, Congenital diaphragmatic hernia, Agonadism, Simplified gyral pattern, ... OMIM:616777
Prader-Willi Syndrome
Osteopenia, Decreased muscle mass, Small scrotum, External genital hypoplasia, Decreased response... OMIM:176270
Meningioma
Back pain, Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neo... ORPHA:2495
15Q24 Microdeletion Syndrome
Joint laxity, Hypospadias, Decreased response to growth hormone stimulation test, Congenital diap... ORPHA:94065
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Omphalocele, Osteopenia, Premature thelarche, Abnormal hand morphology, Osteolysis involving bone... ORPHA:371428
Meckel Syndrome 12
Hypoplasia of the uterus, Vaginal atresia OMIM:616258
Camurati-Engelmann Disease
Skeletal muscle atrophy, Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur m... ORPHA:1328
Bardet-Biedl Syndrome 2
Diabetes mellitus, External genital hypoplasia, Postaxial hand polydactyly, Obesity, Postaxial fo... OMIM:615981
Gordon Holmes Syndrome
Hypogonadotropic hypogonadism, Secondary amenorrhea, Absence of pubertal development, Primary ame... OMIM:212840
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Robinow Syndrome
Small scrotum, External genital hypoplasia, Hemivertebrae, Clitoral hypoplasia, Webbed penis, Mic... ORPHA:97360
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity, Postaxial foot polydactyly, Polydactyly, Hypogonadism OMIM:617119
Meier-Gorlin Syndrome 2
Clitoral hypertrophy, Patellar aplasia, Hypoplastic labia majora, Slender long bone, Labial hypop... OMIM:613800
Familial Adenomatous Polyposis 4
Astrocytoma, Renal cyst, Ovarian cyst, Uterine leiomyoma, Thyroid adenoma OMIM:617100
Rothmund-Thomson Syndrome
Osteopenia, Aplastic anemia, Reduced bone mineral density, Squamous cell carcinoma, Neutropenia, ... ORPHA:2909
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... OMIM:308750
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
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
Mckusick-Kaufman Syndrome
Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, Rectovaginal fistula, Vesicovaginal ... OMIM:236700
Ear-Patella-Short Stature Syndrome
Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Craniosynostosis, Aplastic clavicle, E... ORPHA:2554
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:90695
Prolactinoma
Osteopenia, Pallor, Male hypogonadism, Hypogonadotropic hypogonadism, Osteoporosis, Decreased fer... ORPHA:2965
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Hypospadias, Obesity, Hypogonadism, Delayed puberty ORPHA:141333
Microphthalmia, Isolated 4
Absent testis OMIM:613094
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Adipose tissue loss, Increased intraabdominal fat, Hepat... OMIM:151660
Wagr Syndrome
Cryptorchidism, Obesity, Scoliosis, Ambiguous genitalia, Displacement of the urethral meatus ORPHA:893
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ... OMIM:158330
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Erythrokeratodermia Variabilis
Diabetes mellitus, Tapered finger, Erythema, Dry skin, Weight loss, Neoplasm of the skin, Abnorma... ORPHA:317
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop... ORPHA:848
Clark-Baraitser syndrome
Joint laxity, Tapered finger, Kyphosis, Obesity, Genu valgum, Scoliosis, Short palm, Macroorchidi... OMIM:300602
48,Xxxy Syndrome
Hypoplasia of penis, Small scrotum, Short neck, Clinodactyly of the 5th finger, Abnormal dental e... ORPHA:96263
Hereditary Leiomyomatosis And Renal Cell Cancer
Cutaneous leiomyosarcoma, Multiple cutaneous leiomyomas, Decreased fumarate hydratase activity, R... OMIM:150800
Oculocerebrofacial Syndrome, Kaufman Type
Failure to thrive, Arachnodactyly, Clitoral hypertrophy ORPHA:2707
19Q13.11 Microdeletion Syndrome
Bifid scrotum, Finger syndactyly, Congenital hip dislocation, Hypospadias, Toe syndactyly, Cachex... ORPHA:217346
Lead Poisoning
Decreased HDL cholesterol concentration, Decreased female libido, Small for gestational age, Abno... ORPHA:330015
Meacham Syndrome
Hypoplasia of penis, Cryptorchidism, Hydrometrocolpos, Abnormal fallopian tube morphology, Ambigu... ORPHA:3097
Acquired Hypertrichosis Lanuginosa
Weight loss, Ovarian neoplasm, Neoplasm, Neoplasm of the breast, Neoplasm of the respiratory system ORPHA:2221
Hyperparathyroidism, Transient Neonatal
Osteopenia, Inguinal hernia, Hyperparathyroidism, Short femur, Recurrent fractures, Metaphyseal s... OMIM:618188
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Decreased response to growth hormone stimulation test, Wide penis, Hypoplastic verteb... ORPHA:3455
Bardet-Biedl Syndrome 19
External genital hypoplasia, Mesoaxial hand polydactyly, Postaxial polydactyly, Obesity, Postaxia... OMIM:615996
Cowden-Like syndrome
Endometrial carcinoma, Uterine leiomyoma, Papillary thyroid carcinoma, Breast carcinoma OMIM:612359
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
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Vaginal atresia ORPHA:3301
Prader-Willi Syndrome
Osteopenia, Small scrotum, External genital hypoplasia, Decreased response to growth hormone stim... ORPHA:739
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Small pituitary gland, Micropenis, Decreased testicular size OMIM:614880
Cornelia De Lange Syndrome 5
Toe syndactyly, Proximal placement of thumb, Short neck, Cryptorchidism, Small hand, Short foot, ... OMIM:300882
Pseudohypoparathyroidism, Type Ic
Short metacarpal, Short neck, Elevated circulating thyroid-stimulating hormone concentration, Ost... OMIM:612462
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Precocious puberty, Small hand, Obesity, Short foot, Scolio... ORPHA:254531
Schöpf-Schulz-Passarge Syndrome
Squamous cell carcinoma, Basal cell carcinoma, Ovarian neoplasm ORPHA:50944
Satoyoshi Syndrome
Short metacarpal, Brachydactyly, Short metatarsal, Osteolytic defects of the phalanges of the han... OMIM:600705
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Reticulocytopenia, Anisopoikilocytosis, Hepatosplen... ORPHA:300298
Acrodysostosis 2 With Or Without Hormone Resistance
Short metacarpal, Diabetes mellitus, Hypospadias, Cryptorchidism, Short metatarsal, Spinal canal ... OMIM:614613
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Small pituitary gland, Delayed... OMIM:612702
Pseudohypoparathyroidism, Type Ia
Short metacarpal, Short neck, Short toe, Osteoporosis, Pseudohypoparathyroidism, Obesity, Short m... OMIM:103580
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cryptorchidism, Hypogonadism, External genital hypoplasia, Obesity ORPHA:363741
Aica-Ribosuria Due To Atic Deficiency
Hyponatremia, Clitoral hypertrophy, Fused labia minora OMIM:608688
Beta-Thalassemia Intermedia
Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,... ORPHA:231222
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Calf muscle pseudohypertrophy, Hypertriglyceridemia, Astrocytom... ORPHA:79086
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Facial hypotonia, Kyphoscoliosis, Short neck, Flexion contracture, Small hand, Obesity, Scoliosis... OMIM:300055
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Joint laxity, Toe syndactyly, Small for gestational age, Septate vagina, Craniosynostosis, 4-5 to... OMIM:300707
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... OMIM:110100
Combined Oxidative Phosphorylation Deficiency 54
Hypergonadotropic hypogonadism, Obesity, Primary amenorrhea, Scoliosis, Periventricular nodular h... OMIM:619737
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Insulin-resistant diabetes mellitus, Elevated circulating growth hor... ORPHA:90301
Gestational Choriocarcinoma
Metrorrhagia, Miscarriage, Choriocarcinoma, Neoplasm, Trophoblastic tumor ORPHA:99926
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hepatomegaly, Recurrent fractures, Hypercalcemia, Splenomegaly, Primary hyperparathyr... OMIM:239200
Leprechaunism