Registered for phenotyping at IMPC

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

Gene Summary

Name:
estrogen receptor 1 (alpha)
Synonyms:
ER[a],  ER-alpha,  Nr3a1,  Estra,  ERalpha,  Estr,  ESR,  ERa

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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 Esr1 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 Esr1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Estrogen Resistance
Increased serum estradiol, Hyperinsulinemia, Breast aplasia, Polycystic ovaries, Delayed puberty,... OMIM:615363
Estrogen Resistance Syndrome
Hyperinsulinemia, Abnormality of the pubic hair, Enlarged polycystic ovaries, Absence of secondar... ORPHA:785
Breast Cancer
OMIM:114480
Migraine With Or Without Aura, Susceptibility To, 1
OMIM:157300

The table below shows human diseases predicted to be associated to Esr1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Asperger syndrome susceptibility, X-linked 2
Abnormal nonverbal communicative behavior, Impaired ability to form peer relationships OMIM:300497
Asperger syndrome, X-linked, susceptibility to, 1
Abnormal nonverbal communicative behavior, Impaired ability to form peer relationships OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Abnormal nonverbal communicative behavior, Impaired ability to form peer relationships OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Abnormal nonverbal communicative behavior, Impaired ability to form peer relationships OMIM:608631
Partial Chromosome Y Deletion
Abnormal spermatogenesis, Decreased testicular size, Non-obstructive azoospermia, Oligospermia, M... ORPHA:1646
Spermatogenic Failure 8
Oligospermia, Cryptozoospermia, Azoospermia OMIM:613957
Spermatogenic Failure 25
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Male infert... OMIM:617960
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Ovarian Dysgenesis 7
Primary amenorrhea, Delayed puberty, Hypoplasia of the uterus OMIM:618117
Spermatogenic Failure 30
Spermatogenesis maturation arrest, Azoospermia, Cryptozoospermia, Male infertility, Cryptorchidism OMIM:618110
Spermatogenic Failure 63
Decreased testicular size, Oligospermia, Male infertility, Reduced progressive sperm motility OMIM:619689
Testicular Torsion
Testicular torsion, Torsion of appendix of testis OMIM:187400
Ovarian Dysgenesis 6
Primary amenorrhea, Absence of pubertal development, Hypergonadotropic hypogonadism, Hypoplasia o... OMIM:618078
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal spermatogenesis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, A... ORPHA:488191
Spermatogenic Failure 51
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Macroceph... OMIM:619177
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia OMIM:619108
Spermatogenic Failure 54
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,... OMIM:619379
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:301059
Spermatogenic Failure 40
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Coiled sperm flagell... OMIM:618664
Spermatogenic Failure 76
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:620084
Spermatogenic Failure 65
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... OMIM:619712
Premature Ovarian Failure 3
Premature ovarian insufficiency, Secondary amenorrhea, Hypoplasia of the uterus OMIM:608996
Spermatogenic Failure 47
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm OMIM:619102
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Spermatogenic Failure 56
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:619515
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe... OMIM:618643
Spermatogenic Failure 10
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:614822
Spermatogenic Failure 11
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 58
Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog... OMIM:619585
Spermatogenic Failure 41
Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm OMIM:618670
Premature Ovarian Failure 14
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:618014
Premature Ovarian Failure 17
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased cirrculating... OMIM:619146
Spermatogenic Failure 70
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility OMIM:619828
Ovarian Dysgenesis 9
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube... OMIM:619665
Premature Ovarian Failure 7
Secondary amenorrhea, Premature ovarian insufficiency, Absent pubic hair, Elevated circulating lu... OMIM:612964
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Ovarian Dysgenesis 2
Secondary amenorrhea, Premature ovarian insufficiency, Delayed puberty, Hypergonadotropic hypogon... OMIM:300510
Premature Ovarian Failure 18
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ... OMIM:619203
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Spermatogenic Failure 7
Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm OMIM:612997
Male Infertility Due To Acephalic Spermatozoa
Abnormal sperm mid-piece morphology, Reduced sperm motility, Oligospermia, Male infertility, Acep... ORPHA:529970
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology OMIM:619696
Spermatogenic Failure 32
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia OMIM:619831
Hydatidiform Mole
Menometrorrhagia, Hyperthyroidism, Enlarged uterus ORPHA:99927
Endometriosis, Susceptibility To, 1
Endometriosis, Dysmenorrhea, Decreased fertility OMIM:131200
46,Xx Testicular Disorder Of Sex Development
Male hypogonadism, Ambiguous genitalia, Polycystic ovaries, Decreased testicular size ORPHA:393
Ovarian Dysgenesis 5
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Primary amenorrhea, El... OMIM:617690
Premature Ovarian Failure 13
Female infertility, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Amen... OMIM:617442
Premature Ovarian Failure 2A
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:300511
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Abnormal circulating corticosterone level, Primary amenorrhea, Hypoplasia of the uterus, Primary ... ORPHA:90796
Premature Ovarian Failure 6
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... OMIM:612310
Perrault Syndrome 6
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea... OMIM:617565
Familial Hyperprolactinemia
Female hypogonadism, Hemorrhagic ovarian cyst, Infertility, Menorrhagia, Oligomenorrhea, Amenorrhea ORPHA:397685
Hypogonadism, Male
Male hypogonadism, Testicular atrophy, Hypospadias, Micropenis OMIM:241100
Precocious Puberty, Central, 1
Hypothyroidism, Elevated circulating follicle stimulating hormone level, Elevated circulating lut... OMIM:176400
Ovarian Dysgenesis 10
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated cir... OMIM:619834
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Oocyte/Zygote/Embryo Maturation Arrest 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Complete Androgen Insensitivity Syndrome
Abnormal uterine cervix morphology, Absent pubic hair, Blind vagina, Primary amenorrhea, Testicul... ORPHA:99429
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Primary amenorrhea, Decreased serum estradiol, Decreased testicular size, Decreased serum testost... OMIM:614841
Oocyte/Zygote/Embryo Maturation Arrest 4
Female infertility, Oocyte arrest at metaphase I OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia, Decreased testi... OMIM:619528
Premature Ovarian Failure 20
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:619938
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Abnormal internal genitalia, Primary amenorrhea, Aplasia of the uterus,... OMIM:273250
Premature Ovarian Failure 8
Decreased serum estradiol, Premature ovarian insufficiency, Elevated circulating follicle stimula... OMIM:615723
46,Xy Partial Gonadal Dysgenesis
Ambiguous genitalia, Gonadoblastoma, Adrenal insufficiency, Increased circulating gonadotropin le... ORPHA:251510
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Oste... ORPHA:1879
Spermatogenic Failure, X-Linked, 4
Abnormal prolactin level, Elevated circulating luteinizing hormone level, Elevated circulating fo... OMIM:301077
Avascular Necrosis Of Femoral Head, Primary, 1
Generalized osteoporosis, Avascular necrosis of the capital femoral epiphysis OMIM:608805
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Primary amenorrhea, Gonadoblastoma, Abnormality of female external genitalia, Decreased serum est... ORPHA:168563
Rhizomelic Chondrodysplasia Punctata, Type 3
Epiphyseal stippling, Short humerus, Rhizomelia, Short femur OMIM:600121
Perrault Syndrome 3
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:614129
Premature Ovarian Failure 9
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating luteinizing hormon... OMIM:615724
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Premature Ovarian Failure 10
Hypothyroidism, Decreased testicular size, Premature ovarian insufficiency, Azoospermia, Hypoplas... OMIM:612885
Ovarian Dysgenesis 3
Aplasia of the ovary, Delayed puberty, Female infertility, Elevated circulating luteinizing hormo... OMIM:614324
Osteochondrosis Of The Metatarsal Bone
Pedal edema, Abnormality of the third metatarsal bone, Abnormality of the fifth metatarsal bone, ... ORPHA:564003
Perrault Syndrome 4
Decreased serum estradiol, Bicornuate uterus, Premature ovarian insufficiency, Secondary amenorrh... OMIM:615300
Androgen Insensitivity Syndrome
Sparse axillary hair, Labial hypoplasia, Sparse pubic hair, Inguinal hernia, Absent facial hair, ... OMIM:300068
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased t... OMIM:614837
Spermatogenic Failure 28
Decreased testicular size, Non-obstructive azoospermia, Male infertility, Elevated circulating lu... OMIM:618086
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... OMIM:614842
Müllerian Aplasia And Hyperandrogenism
High anterior hairline, Increased serum testosterone level, Synophrys, Abnormality of the ovary, ... ORPHA:247768
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619937
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619878
Diethylstilbestrol Syndrome
Decreased fertility in females, Abnormal testis morphology, Premature ovarian insufficiency, Vagi... ORPHA:1916
Uterine Anomalies
Abnormality of the uterus, Bicornuate uterus OMIM:192000
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea OMIM:619245
Spermatogenic Failure 12
Abnormal male germ cell morphology, Infertility, Azoospermia OMIM:615413
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density, Pedal edema ORPHA:75325
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal cortical bone morphology, Abnormal pelvic girdle bone morphol... ORPHA:1802
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the vagina, Bifid scrotum, True hermaphroditism, Azoospermia, Ovotest... OMIM:278850
Estrogen Resistance
Increased serum estradiol, Hyperinsulinemia, Breast aplasia, Polycystic ovaries, Delayed puberty,... OMIM:615363
Functioning Gonadotropic Adenoma
Impotence, Anterior hypopituitarism, Decreased female libido, Oligospermia, Increased circulating... ORPHA:91348
Buschke-Ollendorff Syndrome
Lower limb asymmetry, Joint stiffness, Flexion contracture, Osteopoikilosis OMIM:166700
Spermatogenic Failure 38
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... OMIM:618433
Spermatogenic Failure 77
Azoospermia, Oligospermia, Male infertility, Abnormal circulating testosterone concentration, Abn... OMIM:620103
Pituitary Adenoma 2, Growth Hormone-Secreting
Elevated circulating growth hormone concentration, Pituitary adenoma OMIM:300943
46,Xy Sex Reversal 3
Ambiguous genitalia, Sex reversal, Penoscrotal hypospadias, Elevated circulating luteinizing horm... OMIM:612965
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Diaphyseal t... ORPHA:3416
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Hirsutism, Oligomenorrhea, Obesity, Amenorrhea OMIM:184700
Partial Androgen Insensitivity Syndrome
Ambiguous genitalia, Male sexual dysfunction, Blind vagina, Primary amenorrhea, Increased circula... ORPHA:90797
Gonadoblastoma
Ambiguous genitalia, Increased serum testosterone level, Gonadal dysgenesis with female appearanc... ORPHA:206484
Estrogen Resistance Syndrome
Hyperinsulinemia, Abnormality of the pubic hair, Enlarged polycystic ovaries, Absence of secondar... ORPHA:785
Spermatogenic Failure, X-Linked, 1
Sertoli cell-only phenotype, Obesity OMIM:305700
Multiple Symmetric Lipomatosis
Multiple lipomas, Abnormal adipose tissue morphology, Insulin resistance ORPHA:2398
Spermatogenic Failure 35
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Male infe... OMIM:618341
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Amenorrhea, Hypoplasia of the uterus OMIM:277000
Spermatogenic Failure 13
Azoospermia OMIM:615841
Deleted in azoospermia
Azoospermia OMIM:400003
Premature Ovarian Failure 16
Premature ovarian insufficiency, Elevated circulating follicle stimulating hormone level, Reduced... OMIM:618723
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Abnormal spermatogenesis, Decreased testicular size, Azoospermia, Non-obstructive azoospermia, In... ORPHA:399805
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... ORPHA:90793
Hepatic Adenomas, Familial
Polycystic ovaries OMIM:142330
Prader-Willi syndrome (Type 1)
Hypogonadism, Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Hypogonadism, Truncal obesity DECIPHER:53
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short tibia, Absent ossification of thoracic vertebral bodies, Hypoplasia of the radius, Lytic de... OMIM:601376
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Dense metaphyseal bands, Metaphyseal dysplasia, Clavicular sclerosis OMIM:615198
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Decreased testicu... OMIM:229070
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis ORPHA:242
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia, Decreased circulating IgG level OMIM:233650
Hypogonadism-Cataract Syndrome
Male hypogonadism, Elevated circulating follicle stimulating hormone level, Infertility, Hypogona... OMIM:240950
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Coiled sperm flagella, Male infertility OMIM:617593
X-Linked Intellectual Disability, Van Esch Type
Absence of secondary sex characteristics, Decreased testicular size, Type II diabetes mellitus, C... ORPHA:163976
Ovarian Fibrothecoma
Increased serum testosterone level, Gonadal calcification, Abnormal circulating hormone concentra... ORPHA:314478
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility OMIM:617996
Spermatogenic Failure 75
Early spermatogenesis maturation arrest, Elevated circulating follicle stimulating hormone level,... OMIM:619949
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Abnormal spermatogenesis, Decreased circulating dihydrotestosterone co... OMIM:228300
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Premature Ovarian Failure 15
Irregular menstruation, Secondary amenorrhea, Decreased cirrculating antimullerian hormone circul... OMIM:618096
Kennedy Disease
Decreased fertility, Testicular atrophy, Erectile dysfunction, Type II diabetes mellitus ORPHA:481
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Abnormal circulating hormone co... ORPHA:280356
46,Xy Sex Reversal 1
Ambiguous genitalia, Abnormality of female external genitalia, Gonadoblastoma, Sex reversal, Abse... OMIM:400044
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, Gonadoblastoma, Abnormal spermatogenesis, Ambiguou... ORPHA:261529
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Elevated serum 11-deoxycortisol, Adrenogenital syndrome, Increased serum testosterone level, Decr... OMIM:202010
Spermatogenic Failure 72
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Irregular... OMIM:619867
Spermatogenic Failure 34
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:618153
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Polycystic ovaries, Secondary amenorrhea, Decreased fertility ORPHA:1643
Isochromosomy Yp
Decreased testicular size, Ambiguous genitalia, Male infertility, Azoospermia ORPHA:98797
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypotension, Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Ambiguo... ORPHA:90791
49,Xyyyy Syndrome
Primary gonadal insufficiency, Short 5th finger, Abnormality of the testis size, Generalized join... ORPHA:99330
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Chromosome Xq27.3-Q28 Duplication Syndrome
Sparse body hair, Small hand, Hypogonadism, Decreased testicular size, Small for gestational age,... OMIM:300869
Spermatogenic Failure 14
Azoospermia, Late spermatogenesis maturation arrest, Abnormal prolactin level, Male infertility, ... OMIM:615842
X-Linked Intellectual Disability, Cilliers Type
Small hand, Absence of secondary sex characteristics, Decreased testicular size, Coronal craniosy... ORPHA:163971
Immunodeficiency 24
Decreased CD4:CD8 ratio, Decreased circulating IgG level, Reduced proportion of mucosal-associate... OMIM:615897
Hyperprolactinemia
Female infertility, Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea OMIM:615555
Spermatogenic Failure 46
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:619095
Spermatogenic Failure 33
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:618152
Spermatogenic Failure 37
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:618429
Spermatogenic Failure 18
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:617576
Spermatogenic Failure 27
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:617965
Osteopetrosis, Autosomal Recessive 6
Dense metaphyseal bands, Cortical sclerosis of the iliac wing, Osteopetrosis, Erlenmeyer flask de... OMIM:611497
Ovarian Dysgenesis 8
Hypoplastic labia majora, Eunuchoid habitus, Elevated circulating luteinizing hormone level, Elev... OMIM:618187
46,Xy Sex Reversal 7
Abnormal epididymis morphology, Gonadoblastoma, Gonadal dysgenesis, male, Sex reversal, Hypoplasi... OMIM:233420
Non-Functioning Pituitary Adenoma
Hypotension, Impotence, Anterior hypopituitarism, Adrenal insufficiency, Decreased female libido,... ORPHA:91349
Gnathodiaphyseal Dysplasia
Recurrent fractures, Thickened cortex of long bones, Mandibular osteomyelitis, Osteopenia, Bowing... ORPHA:53697
Bardet-Biedl Syndrome 11
Obesity, Hypogonadism OMIM:615988
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Increased bone mineral density, Cortical thickening of long bone diaphyses, ... OMIM:166740
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Thin bony cortex, Generalized bone demineralization, Genu valgum, Metaphyseal irregularity, Genu ... OMIM:600785
Sclerosteosis
Finger syndactyly, 2-3 finger syndactyly, Increased bone mineral density, Curved distal phalanges... ORPHA:3152
Normosmic Congenital Hypogonadotropic Hypogonadism
Impotence, Camptodactyly, Primary amenorrhea, Hypoplasia of the uterus, Sparse body hair, General... ORPHA:432
Obesity Due To Congenital Leptin Deficiency
Primary amenorrhea, Orthostatic hypotension due to autonomic dysfunction, Hyperinsulinemia, Decre... ORPHA:66628
49,Xxxyy Syndrome
Primary gonadal insufficiency, Ambiguous genitalia, Abnormality of the testis size, External geni... ORPHA:261534
Ovarian Dysgenesis 4
Elevated circulating follicle stimulating hormone level, Decreased serum estradiol, Primary ameno... OMIM:616185
Obesity Due To Leptin Receptor Gene Deficiency
Primary amenorrhea, Orthostatic hypotension due to autonomic dysfunction, Hyperinsulinemia, Decre... ORPHA:179494
Mueller-Weiss Syndrome
Pedal edema, Fragmented, irregular epiphyses, Limitation of movement at ankles, Tibial torsion, S... ORPHA:566943
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification OMIM:602475
Bdv Syndrome
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin... OMIM:619326
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spermatogenic Failure 19
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperlordosis, Hyperinsulinemia, Short toe, Broad foot, Kyphosis, Secondary amenorrhea, Decreased... ORPHA:3085
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Decreased fertility, Ambiguous genitalia, Bifid scrotum, Abnormal male ... ORPHA:2138
Nephrotic Syndrome, Type 14
Hypothyroidism, Hypogonadism, Nephrotic syndrome, Adrenal insufficiency, Stage 5 chronic kidney d... OMIM:617575
Satoyoshi Syndrome
Sparse or absent eyelashes, Abnormality of the ovary, Alopecia universalis, Abnormality of the ut... ORPHA:3130
47,Xyy Syndrome
Macroorchidism, Increased serum testosterone level, Azoospermia, Increased circulating gonadotrop... ORPHA:8
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Ribbing Disease
Diaphyseal sclerosis OMIM:601477
Eiken Syndrome
Short phalanx of finger, Thin bony cortex, Broad foot, Short toe, Abnormal bone ossification, Met... ORPHA:79106
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteopenia, Hypogonadotropic hypogonadism, Osteoporosis OMIM:615269
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Van Buchem Disease
Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis OMIM:239100
Testicular Regression Syndrome
Decreased fertility, Ambiguous genitalia, Decreased testicular size, Abnormal male internal genit... ORPHA:983
Oocyte/Zygote/Embryo Maturation Arrest 16
Infertility OMIM:617234
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Clavicu... ORPHA:2790
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Mccune-Albright Syndrome
Precocious puberty, Abnormal testis morphology, Hyperphosphaturia, Hyperplasia of the Leydig cell... ORPHA:562
Premature Ovarian Failure 1
Increased circulating gonadotropin level OMIM:311360
Isochromosomy Yq
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Ambiguous genitalia, Decr... ORPHA:98798
Syndromic X-Linked Intellectual Disability 7
Sparse body hair, Hypogonadism, Hypoplasia of penis, Cryptorchidism, Obesity, Micropenis ORPHA:85274
Spermatogenic Failure 42
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf... OMIM:618745
Spermatogenic Failure 24
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Microcephalic sperm head, Coile... OMIM:617959
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Polycystic ovaries, Precocious puberty, Hypergonadotropic hypogonadism ORPHA:2229
Pituicytoma
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... ORPHA:251623
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Female infertility, Primary amenorrhea OMIM:300604
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Abnormal circul... OMIM:616950
Isolated Follicle Stimulating Hormone Deficiency
Female hypogonadism, Gonadotropin deficiency, Decreased serum estradiol, Decreased testicular siz... ORPHA:52901
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Abnormality of the ovary, Hypogonadism ORPHA:1875
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Ambiguous genitalia, Premature thelarche, Precocious puberty, Ambiguous genitalia, female, Decrea... ORPHA:90795
Premature Ovarian Failure 11
Elevated circulating follicle stimulating hormone level, Oligomenorrhea, Secondary amenorrhea OMIM:616946
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Impotence, Small pituitary gland, Increased circulating gonadotropin level, Primary amenorrhea, L... ORPHA:2232
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Uterus didelphys, Metrorrhagia, Partial vaginal septum, Abnormal uterine cervix morphology, Dyspa... ORPHA:3411
Autoinflammatory Disease, Familial, Behcet-Like 3
Vaginal mucosal ulceration OMIM:618287
Acrocapitofemoral Dysplasia
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Enlargement of the... OMIM:607778
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hypotension, Ambiguous genitalia, Decreased circulating aldosterone level, Ambiguous genitalia, f... ORPHA:90794
Rudiger Syndrome
Ovarian cyst, Micropenis, Bicornuate uterus OMIM:268650
Aromatase Deficiency
Female pseudohermaphroditism, Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:613546
Leydig Cell Hypoplasia
Ambiguous genitalia, Breast aplasia, Increased circulating gonadotropin level, Primary amenorrhea... ORPHA:755
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular s... ORPHA:399808
Mullerian Aplasia And Hyperandrogenism
Aplasia of the vagina, Aplasia of the fallopian tube, Aplasia of the uterus, Hirsutism, Primary a... OMIM:158330
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Gonadal dysgenesis, Primary amenorrhea OMIM:233300
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Metaphyseal Dysplasia, Braun-Tinschert Type
Thin bony cortex, Broad tibial metaphyses, Increased bone mineral density, Broad femoral head, Fi... ORPHA:85188
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Insulin-Resistance Syndrome Type B
Decreased circulating complement factor B concentration, Abnormal circulating lipid concentration... ORPHA:2298
Rhizomelic Dysplasia, Ain-Naz Type
Rhizomelia, Short femoral neck, Wide distal femoral metaphysis, Hip dysplasia, Limitation of join... OMIM:619598
46,Xx Sex Reversal 5
Urogenital sinus anomaly, Ambiguous genitalia, Aplasia of the left hemidiaphragm, Increased serum... OMIM:618901
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Testicular Agenesis
Urogenital sinus anomaly, Ambiguous genitalia, Absent external genitalia, Urethrovaginal fistula,... ORPHA:325124
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrocephalic sperm head OMIM:243060
Glucocorticoid Resistance, Generalized
Irregular menstruation, Increased serum testosterone level, Increased circulating cortisol level,... OMIM:615962
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight, Maturity-onset diabetes of the young OMIM:613375
Polyembryoma
Irregular menstruation, Isosexual precocious puberty, Macroorchidism, Increased serum testosteron... ORPHA:180229
Androgen Insensitivity Syndrome
Ambiguous genitalia, male, Abnormality of the uterus, Delayed puberty, Male pseudohermaphroditism... ORPHA:754
Cortisone Reductase Deficiency 1
Alopecia, Precocious puberty, Infertility, Hirsutism, Oligomenorrhea, Obesity OMIM:604931
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, B lymphocytopenia, Abnormally low T cell receptor excision circl... OMIM:618987
Post-Traumatic Pituitary Deficiency
Hypotension, Abnormality of secondary sexual hair, Decreased response to growth hormone stimulati... ORPHA:95619
Bardet-Biedl Syndrome 10
Renal cyst, Obesity, Hypogonadism OMIM:615987
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia ORPHA:48
Mayer-Rokitansky-Küster-Hauser Syndrome
Aplasia of the uterus, Hypoplasia of the vagina ORPHA:3109
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ure... ORPHA:2795
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus OMIM:601076
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Fibular Hemimelia
Short tibia, Hip subluxation, Limited knee flexion/extension, Hypoplastic acetabulae, Toe syndact... ORPHA:93323
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Primary amenorrhea, Microphallus, Decreased testicular size, Cryptorchidism, Hypogonadotropic hyp... OMIM:614840
Immunodeficiency 84
Splenomegaly, B lymphocytopenia, Perianal abscess OMIM:619437
Acromesomelic Dysplasia 3
Aplasia of the proximal phalanx of the 2nd finger, Short phalanx of finger, Broad foot, Radial de... OMIM:609441
46,Xy Sex Reversal 5
Elevated circulating follicle stimulating hormone level OMIM:613080
Spermatogenic Failure 2
Azoospermia, Non-obstructive azoospermia, Oligospermia, Male infertility, Abnormal circulating te... OMIM:108420
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Hyperinsulinemia, Obesity, Tall stature OMIM:618406
Lipodystrophy, Partial, Acquired, Susceptibility To
Progressive loss of facial adipose tissue, Diabetes mellitus, Polycystic ovaries, Loss of subcuta... OMIM:608709
Popliteal Pterygium Syndrome
Hypoplasia of the vagina, Bifid scrotum, Hypoplastic labia majora, Cryptorchidism, Small scrotum,... OMIM:119500
Hypergonadotropic Hypogonadism-Cataract Syndrome
Decreased fertility, Recurrent fractures, Absence of secondary sex characteristics, Increased cir... ORPHA:2410
Hyperostosis Frontalis Interna
Irregular menstruation, Increased circulating prolactin concentration, Diabetes mellitus, Obesity... OMIM:144800
Familial Cylindromatosis
Telangiectasia of the skin ORPHA:211
Aarskog-Scott Syndrome
Broad foot, Short 5th finger, Short neck, Radial deviation of finger, Short palm, Cervical spine ... OMIM:305400
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Growth Hormone Insensitivity Syndrome
Diabetes insipidus, Hypogonadism, Type II diabetes mellitus, Hypoplasia of penis, Insulin resista... ORPHA:181393
Seckel Syndrome 7
Central hypothyroidism, Abnormal carpal morphology, Lumbar scoliosis, Short middle phalanx of the... OMIM:614851
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Abnormality of the knee, Tapered finger, Abnormality of the ankle, Abnormal ... ORPHA:970
Porokeratosis 2, Palmar, Plantar, And Disseminated Type
Palmar telangiectasia, Plantar telangiectasia OMIM:175850
Spermatogenic Failure 78
Microcephalic sperm head, Male infertility, Tapered sperm head OMIM:620170
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Truncal obesity OMIM:240900
Isolated Osteopoikilosis
Tarsal sclerosis, Abnormal bone ossification, Abnormal long bone morphology, Increased bone miner... ORPHA:166119
Dysplastic Cortical Hyperostosis
Increased bone mineral density, Limb undergrowth, Abnormal cortical bone morphology, Abnormality ... ORPHA:2204
Congenital Factor Vii Deficiency
Post-partum hemorrhage, Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Gingival ble... ORPHA:327
Hip Dysplasia, Beukes Type
Broad femoral neck, Abnormal bone ossification, Coxa vara, Abnormality of the epiphysis of the fe... ORPHA:2114
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Alopeci... ORPHA:453533
Bardet-Biedl Syndrome 5
External genital hypoplasia, Obesity, Micropenis, Hypogonadism OMIM:615983
Immunodeficiency 105
Increased B cell count, Reduced natural killer cell count, Decreased circulating total IgM, T lym... OMIM:619924
Immunodeficiency 19
Abnormal natural killer cell morphology, T lymphocytopenia, Abnormal B cell morphology OMIM:615617
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Hypertension, Diabetes mellitus, Polycystic ovaries, Pancreatitis ORPHA:79084
Symptomatic Form Of Hemochromatosis Type 1
Hypothyroidism, Splenomegaly, Weight loss, Elevated jugular venous pressure, Arthritis, Testicula... ORPHA:465508
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, Neutropenia, B lymphocytopenia OMIM:613107
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypothyroidism, Ambiguous genitalia, Gonadoblastoma, Short 4th metacarpal, Hallux valgus, Ambiguo... ORPHA:1772
Spermatogenic Failure 21
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617644
Progeria-Short Stature-Pigmented Nevi Syndrome
Abnormality of thalamus morphology, T lymphocytopenia, Multiple joint contractures, Micrognathia,... ORPHA:2959
Acromesomelic Dysplasia 2A
Short tibia, Short phalanx of finger, Flexion contracture, Aplasia/Hypoplasia involving the metac... OMIM:200700
Satoyoshi Syndrome
Alopecia, Alopecia universalis, Amenorrhea, Hypoplasia of the uterus OMIM:600705
Rabson-Mendenhall Syndrome
Hypothyroidism, Polydactyly, Precocious puberty, Premature graying of hair, Long penis, Hirsutism... ORPHA:769
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Infertility, Azoospermia, Hypertension, Congestive heart failure, Insu... OMIM:615703
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased serum testosterone level, Increased circulating cortisol level, Decreased circulating d... OMIM:610489
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Micrognathia, Coxa vara, Renal hypoplasia/aplasia, Vertebral seg... ORPHA:1988
Osteoporosis
Osteoporosis OMIM:166710
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
Extensor Tendons Of Finger Anomalies
Camptodactyly of finger, Osteoporosis, Limitation of joint mobility ORPHA:3294
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Hypo... OMIM:308700
Cervical Cancer
Cervix cancer OMIM:603956
Weismann-Netter Syndrome
Abnormality of the humerus, Tibial bowing, Abnormal cortical bone morphology, Femoral bowing, Abn... ORPHA:3344
Distal Osteosclerosis
Diaphyseal sclerosis, Craniofacial osteosclerosis, Hyperostosis OMIM:126250
Xq27.3Q28 Duplication Syndrome
Sparse body hair, Hypogonadism, Decreased testicular size, Premature ovarian insufficiency, Failu... ORPHA:261483
Preeclampsia
Increased body mass index, Small for gestational age, Acute kidney injury, Abnormality of the kid... ORPHA:275555
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Caffey Disease
Joint hypermobility, Bowing of the legs, Cortical irregularity, Subperiosteal bone formation, Cal... OMIM:114000
46,Xx Sex Reversal 1
Sex reversal, Bicornuate uterus, True hermaphroditism, Azoospermia, Hypospadias, Elevated circula... OMIM:400045
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s... OMIM:616030
Osteopetrosis, Autosomal Dominant 1
Calvarial osteosclerosis, Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Thi... OMIM:607634
Hypogonadotropic Hypogonadism 25 With Anosmia
Primary amenorrhea, Decreased serum estradiol, Hypothalamic gonadotropin-releasing hormone defici... OMIM:618841
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue, Type II diabetes mellitus, Oligome... OMIM:604367
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Tapered finger, Short foot, Delayed speech and language development, Absent speech, Emotional lab... OMIM:309585
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Upper limb undergrowth, Short foot, Abnormal cortical bone morphology, Limitation of joint mobili... ORPHA:166277
Immunodeficiency 12
Osteoporosis OMIM:615468
Epiphyseal Dysplasia, Multiple, 5
Broad femoral neck, Genu valgum, Metaphyseal irregularity, Coxa vara, Short metacarpal, Short fem... OMIM:607078
Spermatogenic Failure 44
Male infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:619044
Spermatogenic Failure 16
Male infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617187
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s... OMIM:614897
46,Xx Gonadal Dysgenesis
Decreased fertility, Abnormality of secondary sexual hair, Ambiguous genitalia, Decreased serum e... ORPHA:243
Melorheostosis
Increased bone mineral density, Arthritis, Joint stiffness, Hyperostosis, Ectopic ossification in... ORPHA:2485
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Pancytopenia, Cutaneous anergy, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Immunodeficiency 62
Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir... OMIM:618459
Maternal Uniparental Disomy Of Chromosome 6
Increased serum testosterone level, Slender long bone, Hydrocele testis, Eczema, Congenital adren... ORPHA:96181
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Premature ovarian insufficiency, Sparse pubic hair, Increased circulating... OMIM:110100
Igg4-Related Retroperitoneal Fibrosis
Pedal edema, Impotence, Psoriasiform dermatitis, Retrograde ejaculation, Weight loss, Acute kidne... ORPHA:49041
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Moyamoya Disease 1
Telangiectasia, Inflammatory arteriopathy OMIM:252350
Ataxia-Telangiectasia
Mucosal telangiectasiae, Abnormal testis morphology, Premature graying of hair, Aplasia/Hypoplasi... ORPHA:100
Cidec-Related Familial Partial Lipodystrophy
Loss of gluteal subcutaneous adipose tissue, Decreased serum leptin, Polycystic ovaries, Decrease... ORPHA:435651
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus ORPHA:2578
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Increased serum testosterone level, Enlarged polycystic ovaries, Increa... ORPHA:64739
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Amed Syndrome, Digenic
Acute myeloid leukemia, Leukopenia, Anemia, Long thumb, Failure to thrive, Bone marrow hypocellul... OMIM:619151
Methemoglobinemia And Ambiguous Genitalia
Scrotal hypospadias, Ambiguous genitalia, Decreased circulating dehydroepiandrosterone-sulfate co... OMIM:250790
Woodhouse-Sakati Syndrome
Abnormal T-wave, Hypothyroidism, Hyperinsulinemia, Abnormal spermatogenesis, Decreased response t... ORPHA:3464
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... ORPHA:171706
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Polycystic ovaries, Decreased adiponectin level, Lipodystrophy, Increased... ORPHA:79085
Pyle Disease
Thin bony cortex, Genu valgum, Hypoplastic frontal sinuses, Absent paranasal sinuses, Limited elb... OMIM:265900
Leptin Receptor Deficiency
Aggressive behavior, Decreased response to growth hormone stimulation test, Abnormal hypothalamus... OMIM:614963
Cranio-Osteoarthropathy
Abnormality of the knee, Arthritis, Abnormal cortical bone morphology, Clubbing of toes, Abnormal... ORPHA:1525
Lipe-Related Familial Partial Lipodystrophy
Loss of gluteal subcutaneous adipose tissue, Abnormal labia majora morphology, Increased adipose ... ORPHA:435660
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Nephrolithiasis, Glucose intolerance, Hypoplasia of the uterus, Bicorn... OMIM:137920
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... ORPHA:168558
Immunodeficiency 76
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Splenomegaly OMIM:619164
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... ORPHA:289548
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Male infertility, Immotile sperm OMIM:608653
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone morphology, Thickened cort... OMIM:144750
Lethal Recessive Chondrodysplasia
Short long bone, Micrognathia, Flared elbow metaphyses, Generalized osteosclerosis, Limb undergro... ORPHA:1423
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancrea... OMIM:601820
Ane Syndrome
Alopecia, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, A... ORPHA:157954
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of memory B... OMIM:618204
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged polycystic ovarie... ORPHA:90301
Galactosemia I
Aminoaciduria, Hemolytic anemia, Premature ovarian insufficiency, Galactosuria, Failure to thrive... OMIM:230400
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Decreased circulating antibody level, Lymphopenia, ... ORPHA:169079
Cortisone Reductase Deficiency 2
Obesity, Insulin resistance, Premature pubarche OMIM:614662
Central Precocious Puberty
Isosexual precocious puberty, Abnormality of secondary sexual hair, Premature thelarche, Obesity,... ORPHA:759
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Ambiguous genitalia, Flexion contracture, Decreased circulating dehydroepiandrosterone-sulfate co... ORPHA:95699
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Patellar hypoplasia, Patellar dislocation, Coxa vara, Patellar aplasia, Micrognathia, Flat capita... OMIM:147891
Congenital Generalized Lipodystrophy
Increased C-peptide level, Hepatic steatosis, Hypertrophic cardiomyopathy, Hepatomegaly, Hypercho... ORPHA:528
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Increased bone mineral density, Hypophosphatemic rickets, Craniosynostosis OMIM:241520
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Irregular menstruation, Alopecia, Precocious puberty, Hyperthyroidism, Recurrent fractures, Abnor... ORPHA:457059
Epiphyseal Dysplasia, Multiple, 7
Genu varum, Advanced ossification of carpal bones, Short femoral neck, Flat acetabular roof, Epip... OMIM:617719
Type 2 Diabetes Mellitus
Type II diabetes mellitus, Insulin resistance, Increased waist to hip ratio OMIM:125853
Leptin Deficiency Or Dysfunction
Hypogonadism, Decreased testicular size, Primary amenorrhea, Obesity, Micropenis OMIM:614962
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
T lymphocytopenia, Increased proportion of transitional B cells, Decreased circulating IgG2 level... OMIM:615513
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis ORPHA:178377
Familial Male-Limited Precocious Puberty
Macroorchidism, Precocious puberty, Long penis, Oligospermia, Male infertility ORPHA:3000
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level OMIM:616873
Frasier Syndrome
Gonadoblastoma, Decreased serum estradiol, Ambiguous genitalia, male, Hypertension, Increased cir... ORPHA:347
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent sinusitis, Generalized lymphadenopathy, Hepatosplenomegaly, Hepatomegaly, Antinuclear a... OMIM:615559
Osteoporosis, Juvenile
Osteoporosis OMIM:259750
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Flexion contracture, Precocious puberty, Short foot, ... OMIM:616222
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome
Increased size of the clitoris, Ambiguous genitalia, female, Abnormality of the ovary, Abnormalit... ORPHA:2975
Familial Expansile Osteolysis
Thin bony cortex, Pathologic fracture, Bowing of the long bones, Osteolysis OMIM:174810
Persistent Mullerian Duct Syndrome, Types I And Ii
Bilateral cryptorchidism, Male infertility OMIM:261550
Asherman Syndrome
Decreased fertility in females, Secondary amenorrhea, Infertility, Abnormality of the menstrual c... ORPHA:137686
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... OMIM:212050
Reticular Dysgenesis
Leukopenia, Hypoplasia of the thymus, Lack of T cell function, Lymphopenia, Impaired T cell funct... OMIM:267500
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Decreased fertility, Hypogonadism, Abnormal testis morphology, Abnormal hair quantity, Low poster... ORPHA:2233
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... OMIM:616452
Omphalocele-Cleft Palate Syndrome, Lethal
Bicornuate uterus OMIM:258320
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries ORPHA:2228
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Absent isohemagglutinin level, Neutropenia, Absent circulating B cell... OMIM:613501
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Decreased testicular size, Diabetes mellitus, Cryptorchidism, Primary amenorrhea, Hypogonadotropi... OMIM:610628
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Broad foot, Ambiguous genitalia, Vesicovaginal fistula, Humeroradial synostosis, Adrenal insuffic... OMIM:201750
Osteogenesis Imperfecta, Type Xxii
Thin bony cortex, Recurrent fractures, Pseudoarthrosis, Slender long bone, Decreased circulating ... OMIM:619795
Deafness-Infertility Syndrome
Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motility, Male infertilit... OMIM:611102
Lead Poisoning
Decreased female libido, Decreased circulating osteocalcin level, Oligospermia, Cranial hyperosto... ORPHA:330015
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Joint hyperflexibility, Osteoporosis, Short distal phalanx of finger, Brachydactyly ORPHA:2787
Otopalatodigital Syndrome Type 1
Hypoplastic frontal sinuses, Abnormality of the tarsal bones, Increased bone mineral density, Syn... ORPHA:90650
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Gonadal dysgenesis, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:607080
Myoectodermal Gonadal Dysgenesis Syndrome
Hypoplastic labia majora, Limited elbow extension, Short palm, Hypoplasia of the uterus, Frontal ... OMIM:618419
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Genu varum, Rhizomelia, Coxa vara, Decreased hip abduction, Short femoral neck, Flared iliac wing... OMIM:183849
Young Syndrome
Decreased fertility, Obstructive azoospermia ORPHA:3471
Bardet-Biedl Syndrome 4
Hypogonadism, External genital hypoplasia, Renal cyst, Cryptorchidism, Obesity OMIM:615982
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Male infertility, Obstructive azoospermia OMIM:301060
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased fertility, Decreased circulating progesterone, Streak ovary, Decreased serum estradiol,... ORPHA:572333
Lipodystrophy, Familial Partial, Type 4
Lipodystrophy, Insulin resistance, Lipoatrophy, Insulin-resistant diabetes mellitus OMIM:613877
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hepatic steatosis, Hypoglycemia, Hepatomegaly... ORPHA:264580
Woodhouse-Sakati Syndrome
Abnormal T-wave, Alopecia, Elevated circulating thyroid-stimulating hormone concentration, Decrea... OMIM:241080
Epiphyseal Dysplasia, Multiple, 1
Short phalanx of finger, Broad femoral neck, Genu valgum, Generalized joint laxity, Avascular nec... OMIM:132400
Kallmann Syndrome With Spastic Paraplegia
Decreased circulating follicle stimulating hormone concentration, Hypothalamic gonadotropin-relea... OMIM:308750
Flynn-Aird Syndrome
Increased bone density with cystic changes, Increased bone mineral density, Joint stiffness, Oste... OMIM:136300
Angioosteohypotrophic Syndrome
Thin bony cortex, Upper limb undergrowth, Abnormal trabecular bone morphology, Abnormal foot morp... ORPHA:75508
Metaphyseal Chondrodysplasia, Spahr Type
Genu varum, Progressive leg bowing, Short lower limbs, Hip dysplasia, Metaphyseal chondrodysplasi... ORPHA:2501
Silver-Russell Syndrome
Precocious puberty, Abnormality of the calcaneus, Micrognathia, Cachexia, Abnormality of the urin... ORPHA:813
Acrodysostosis
Irregular menstruation, Short toe, Abnormality of female external genitalia, Hypogonadism, Short ... ORPHA:950
48,Xxxy Syndrome
Coxa valga, Renal dysplasia, Hip dislocation, Elbow dislocation, Talipes equinovarus, Abnormal de... ORPHA:96263
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ... ORPHA:3329
Fanconi Anemia
Abnormal testis morphology, Abnormal cardiac septum morphology, Toe syndactyly, Micrognathia, Hip... ORPHA:84
Pparg-Related Familial Partial Lipodystrophy
Secondary amenorrhea, Oligomenorrhea, Maternal diabetes, Insulin resistance, Abnormality of skele... ORPHA:79083
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Vaginal fistula ORPHA:2597
Slc35A2-Cdg
Camptodactyly of finger, Short tibia, Hip subluxation, Precocious puberty, Coxa valga, Inability ... ORPHA:356961
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating total IgM, Absent circulating B cells, Decreased circulating IgA level, Aga... OMIM:619707
Paget Disease Of Bone 2, Early-Onset
Increased susceptibility to fractures, Bowing of the long bones, Short femur, Femoral bowing, Ost... OMIM:602080
48,Xxyy Syndrome
Elbow dislocation, Abnormal shoulder morphology, Abnormal dental enamel morphology, Hip dysplasia... ORPHA:10
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating total IgM, Absent circulating B cells, Decrease... OMIM:613500
Panhypophysitis
Gonadotropin deficiency, Impotence, Decreased female libido, Decreased circulating cortisol level... ORPHA:95513
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Short foot, Small hand, Impaired social interactions, Delayed speech and lang... ORPHA:254531
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Decreased fertility, Sparse body hair, Hypogonadism, Decreased testicular size, Type II diabetes ... ORPHA:2234
Brachyolmia Type 1, Hobaek Type
Short femoral neck, Short long bone, Flat acetabular roof, Sclerotic foci of metaphyses of the el... OMIM:271530
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteoporosis, Delayed puberty, Osteopenia OMIM:615271
Aromatase Deficiency
Primary amenorrhea, Enlarged polycystic ovaries, Ambiguous genitalia, female, Type II diabetes me... ORPHA:91
Familial Partial Lipodystrophy, Dunnigan Type
Glomerulopathy, Secondary amenorrhea, Abnormality of skeletal muscle fiber size, Insulin resistan... ORPHA:2348
Bardet-Biedl Syndrome 16
Polydactyly, Recurrent respiratory infections, Hypogonadism, Renal dysplasia, Stage 5 chronic kid... OMIM:615993
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Truncal obesity ORPHA:140941
Adenohypophysitis
Gonadotropin deficiency, Impotence, Decreased female libido, Decreased circulating cortisol level... ORPHA:95512
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Hypothyroidism, Decreased response to growth hormone stimulation test, Panhypopituitarism OMIM:300123
Premature Ovarian Failure 5
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ovary, Reduced antral fo... OMIM:611548
Bangstad Syndrome
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Deviation of finger, Increased c... ORPHA:1227
Mehmo Syndrome
Gait ataxia, Aggressive behavior, Decreased response to growth hormone stimulation test, Inabilit... OMIM:300148
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Decreased testicular size, Type I diabetes mellitus, Breast aplasia, Eunuchoid habitus, Sparse pu... ORPHA:3044
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Decreased testicular size, Infertility, Cryptorchidism, Primary amenorrhea, Hypogonadotropic hypo... OMIM:146110
Acquired Partial Lipodystrophy
Lipoatrophy, Insulin resistance ORPHA:79087
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Gonadoblastoma, Abnormality of the uterus, Hypospadias, Cryptorchidism, Streak ovary, Obesity, Ab... OMIM:194072
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Polycystic ovaries, Hypergonadotropic hypogonadism, Secondary amenorrhea OMIM:268020
Cystic Echinococcosis
Abnormal subpleural morphology, Abnormality of the testis size, Abnormality of the peritoneum, Mu... ORPHA:400
Telangiectasia, Hereditary Benign
Diffuse telangiectasia OMIM:187260
46,Xy Sex Reversal 4
Hydronephrosis, Distal symphalangism, Sex reversal, Renal dysplasia, Micrognathia, Hypoplastic la... OMIM:154230
Coronary Artery Disease, Autosomal Dominant, 1
Myocardial infarction, Obesity, Diabetes mellitus, Hypertension OMIM:608320
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Aplasia/Hypoplasia of the testes, Hypoplasia of penis, Obesity, Cryptorchidism ORPHA:3055
Pituitary Adenoma 1, Multiple Types
Irregular menstruation, Increased circulating prolactin concentration, Pituitary adenoma, Prolact... OMIM:102200
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism, Hyperglycemia OMIM:307500
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Genu varum, Delayed ossification of carpal bones, Bowing of the legs, Irregular acetabular roof, ... OMIM:617974
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Insulin resistance, Lipodystrophy, Diabetes mellitus, Genera... OMIM:612526
Spondylometaphyseal Dysplasia, Pagnamenta Type
Thin bony cortex, Short 4th metacarpal, Rhizomelia, Short 5th metacarpal, Femoral bowing, Broad t... OMIM:619638
Schaaf-Yang Syndrome
Flexion contracture, Tapered finger, Inability to walk, Camptodactyly, Arthrogryposis multiplex c... OMIM:615547
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatocellular carcinoma, Elevated circulating creatine kinase concentration, Hepatomegaly, Hyper... ORPHA:79240
Bardet-Biedl Syndrome 2
Hypogonadism, External genital hypoplasia, Dilated cardiomyopathy, Diabetes mellitus, Obesity OMIM:615981
Insulin Autoimmune Syndrome
Weight loss, Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive... ORPHA:411593
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Absen... OMIM:619846
Caffey Disease
Increased circulating antibody level, Cortical thickening of long bone diaphyses, Cortical irregu... ORPHA:1310
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Aplasia of the uterus, Hypoparathyroidism, Primary amenorrhea, Septate vagina, Aplasia of the vag... OMIM:146255
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Sim1-Related Prader-Willi-Like Syndrome
Central hypothyroidism, Precocious puberty, Small pituitary gland, Primary amenorrhea, Abdominal ... ORPHA:398079
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity, Gait disturbance, Finger joint hypermobility ORPHA:436141
Spermatogenic Failure 17
Male infertility OMIM:617214
Donohue Syndrome
Hyperinsulinemia, Precocious puberty, Long penis, Long foot, Postprandial hyperglycemia, Severe f... OMIM:246200
Lipodystrophy, Familial Partial, Type 6
Lipodystrophy, Insulin resistance, Abdominal obesity, Diabetes mellitus OMIM:615980
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Recurrent fractures, Hypogonadism, Short foot, Toe syndactyly, Micrognat... ORPHA:3409
Autosomal Recessive Spastic Paraplegia Type 26
Premature ovarian insufficiency, Pes cavus, Skeletal muscle atrophy, Scoliosis, Decreased serum t... ORPHA:101006
Denys-Drash Syndrome
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Nephroblastoma, Wide ante... OMIM:194080
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Pes cavus, Abdominal obesity, Polymicrogyria, Gait ataxia, Aggressive behavior, Delayed puberty, ... OMIM:300354
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Trapezoidal distal femoral condyles, Genu valgum, Metaphyseal irreg... OMIM:307800
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the fibula, Abnormality of the upper limb, Finger syndactyly, Clinodactyly ... ORPHA:2141
Thrombocytopenia-Absent Radius Syndrome
Short phalanx of finger, Atrioventricular canal defect, Absent thumb, Coxa valga, Patellar disloc... OMIM:274000
Immunodeficiency 75 With Lymphoproliferation
Lymphadenopathy, Follicular hyperplasia, Decreased proportion of class-switched memory B cells, H... OMIM:619126
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Decreased fertility, Recurrent fractures, Absence of secondary sex characteristics, Anterior hypo... ORPHA:2235
Cerebrooculofacioskeletal Syndrome 1
Knee flexion contracture, Flexion contracture, Coxa valga, Joint contracture of the hand, Small f... OMIM:214150
Vaginal Atresia
Imperforate hymen, Uterus didelphys, Bicornuate uterus, Transverse vaginal septum, Abnormality of... ORPHA:65681
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Urogenital sinus anomaly, Decreased fertility, Ambiguous genitalia, Perineal hypospadias, Bifid s... ORPHA:753
Luscan-Lumish Syndrome
Irregular menstruation, Aggressive behavior, Advanced ossification of carpal bones, Shyness, Dela... OMIM:616831
Werner Syndrome
Abnormal testis morphology, Premature graying of hair, Increased bone mineral density, White fore... ORPHA:902
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Flexion contracture, Micrognathia, Pulmonary hypoplasia, Short femur, Pleural effusion, Hypertrop... OMIM:616897
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperinsulinemia, Cognitive impairment, Reduced intraabdominal adipose tissue, Reduced subcutaneo... ORPHA:363400
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Sparse scalp hair, Decreased response to growth hormone stimulation test, Renal malrotation, Clin... OMIM:615866
Metatropic Dysplasia
Camptodactyly of finger, Abnormal enchondral ossification, Coarse metaphyseal trabecularization, ... ORPHA:2635
Caudal Duplication Anomaly
Uterus didelphys OMIM:607864
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Aplasia/Hypoplasia of the fibula, Finger syndactyly, Ventricular septal defect, Shawl scrotum, Sh... ORPHA:2256
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Absent vas deferens, Male infertility, Azoospermia OMIM:277180
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue, Type II diabetes mel... ORPHA:71529
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Joint stiffness, Obesity ORPHA:1078
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Hip osteoarthritis, Generalized osteosclerosis, Abnormal pelvic girdle bone ... OMIM:166600
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteoporosis, Osteopenia, Hypogonadism OMIM:615270
Spondyloepiphyseal Dysplasia Congenita
Genu valgum, Upper limb undergrowth, Limited elbow movement, Short femoral neck, Short long bone,... ORPHA:94068
Pigmented Nodular Adrenocortical Disease, Primary, 2
Increased circulating cortisol level, Decreased circulating ACTH level, Hypertension, Pigmented m... OMIM:610475
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia, Precocious puberty, Short foot, Small hand, Small for gestational age, Dela... ORPHA:96184
Immunodeficiency 68
Lymphadenitis, Abnormal natural killer cell count, T lymphocytopenia, B lymphocytopenia, Abscess OMIM:612260
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Kyphosis, Micrognathia, Telangiectasia of the skin, Insulin resistance, Male hypogonadism, Diabet... OMIM:615381
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, 2-3 toe syndactyly, High anterior hairline, Tapered finger, Small hand, Congenita... ORPHA:284180
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Central hypothyroidism, Pedal edema, Precocious puberty, Perisylvian polymicrogyria, Decreased ci... ORPHA:98793
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Hypogonadism, Small for gestational age, Micrognathia, Clinodactyly, Clinodactyly ... ORPHA:73272
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatocellular carcinoma, Elevated circulating creatine kinase concentration, Hepatic steatosis, ... ORPHA:370
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency