Not currently registered for phenotyping at IMPC

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

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
Primary amenorrhea, Hyperinsulinemia, Hypoplasia of the uterus OMIM:615363
Estrogen Resistance Syndrome
Overgrowth, Tall stature, Absence of pubertal development, Absence of secondary sex characteristi... 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
Spermatogenic Failure 25
Azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Partial Chromosome Y Deletion
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi... ORPHA:1646
Spermatogenic Failure 8
Oligospermia, Azoospermia, Cryptozoospermia OMIM:613957
Spermatogenic Failure 1
Oligospermia, Male infertility, Cryptozoospermia OMIM:258150
Ovarian Dysgenesis 7
Delayed puberty, Primary amenorrhea, Hypoplasia of the uterus OMIM:618117
Ovarian Dysgenesis 2
Secondary amenorrhea, Delayed puberty, Abnormality of the uterus, Primary amenorrhea, Premature o... OMIM:300510
Spermatogenic Failure 2
Oligospermia, Azoospermia OMIM:108420
Premature Ovarian Failure 3
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Testicular Torsion
Testicular torsion, Torsion of appendix of testis OMIM:187400
Spermatogenic Failure 48
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Spermatogenic Failure 51
Oligospermia, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm fla... OMIM:619177
Spermatogenic Failure 54
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... OMIM:619379
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Premature Ovarian Failure 14
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:618014
Spermatogenic Failure, X-Linked, 3
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:301059
Spermatogenic Failure 40
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... OMIM:618664
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Spermatogenic Failure 39
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618643
Spermatogenic Failure 47
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella OMIM:619102
Premature Ovarian Failure 17
Decreased antimullerian hormone level, Elevated circulating follicle stimulating hormone level, D... OMIM:619146
Spermatogenic Failure 56
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:619515
Premature Ovarian Failure 7
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Clitoral hypertrop... OMIM:612964
Spermatogenic Failure 11
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility OMIM:615081
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... ORPHA:529970
Autism, Susceptibility To, 20
Impaired social interactions OMIM:618830
Spermatogenic Failure 58
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... OMIM:619585
46,Xx Testicular Disorder Of Sex Development
Male hypogonadism, Decreased testicular size, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Premature Ovarian Failure 19
Secondary amenorrhea, Female infertility, Irregular menstruation, Premature ovarian insufficiency OMIM:619245
Ovarian Dysgenesis 9
Decreased antimullerian hormone level, Elevated circulating follicle stimulating hormone level, H... OMIM:619665
Premature Ovarian Failure 16
Reduced antral follicle count, Decreased serum estradiol, Elevated circulating follicle stimulati... OMIM:618723
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased testicular size, Elevated circulating f... OMIM:618086
Familial Hyperprolactinemia
Menorrhagia, Infertility, Hemorrhagic ovarian cyst, Oligomenorrhea, Amenorrhea, Female hypogonadism ORPHA:397685
Premature Ovarian Failure 18
Secondary amenorrhea, Irregular menstruation, Decreased antimullerian hormone level, Elevated cir... OMIM:619203
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Ovarian Dysgenesis 5
Primary amenorrhea, Hypoplasia of the uterus OMIM:617690
Leydig Cell Hypoplasia, Type I
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level OMIM:238320
Spermatogenic Failure 7
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility OMIM:612997
Perrault Syndrome 6
Secondary amenorrhea, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Irregula... OMIM:617565
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Premature Ovarian Failure 6
Secondary amenorrhea, Streak ovary, Elevated circulating follicle stimulating hormone level, Fema... OMIM:612310
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypospadias, Elevated circulating follicle stimulating hormone level, Sparse pubic hair, Ambiguou... ORPHA:90796
Endometriosis, Susceptibility To, 1
Endometriosis, Dysmenorrhea, Decreased fertility OMIM:131200
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Hydatidiform Mole
Hyperthyroidism, Spontaneous abortion, Menometrorrhagia, Enlarged uterus ORPHA:99927
Precocious Puberty, Central, 1
Hypothyroidism, Isosexual precocious puberty, Elevated circulating luteinizing hormone level, Ele... OMIM:176400
Hypogonadism, Male
Testicular atrophy, Micropenis, Male hypogonadism, Hypospadias OMIM:241100
Complete Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Increased serum testosterone level, Aplasia of the uterus,... ORPHA:99429
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Azoospermia, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Micropenis, Primary amenorrh... OMIM:614837
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Pedal edema, Increased bone mineral density, Premature ovarian insufficiency ORPHA:75325
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
46,Xy Sex Reversal 11
Gonadal dysgenesis with female appearance, male, Vanishing testis, Aplasia of the uterus, Decreas... OMIM:273250
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Hypoplasia of the ovar... OMIM:614841
Ribbing Disease
Diaphyseal sclerosis OMIM:601477
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Azoospermia OMIM:619145
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Non-obstructive a... OMIM:619528
46,Xy Partial Gonadal Dysgenesis
Hypospadias, Adrenal insufficiency, Elevated circulating follicle stimulating hormone level, Spar... ORPHA:251510
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Premature Ovarian Failure 10
Elevated circulating follicle stimulating hormone level, Azoospermia, Hypoplasia of the ovary, Pr... OMIM:612885
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... ORPHA:1879
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Short humerus, Short femur, Epiphyseal stippling OMIM:600121
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Testicular dysgenesis, Gonadal dysgenesis with female appearance, male, Abnormal vagina morpholog... ORPHA:168563
Diethylstilbestrol Syndrome
Hypospadias, Testicular dysgenesis, Decreased fertility in females, Abnormal reproductive system ... ORPHA:1916
Perrault Syndrome 4
Disproportionate tall stature, Secondary amenorrhea, Oligomenorrhea, Hypoplasia of the ovary, Dec... OMIM:615300
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Osteochondrosis Of The Metatarsal Bone
Structural foot deformity, Sclerosis of foot bone, Abnormality of the third metatarsal bone, Flat... ORPHA:564003
Androgen Insensitivity Syndrome
Elevated circulating follicle stimulating hormone level, Labial hypoplasia, Sparse pubic hair, Ab... OMIM:300068
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Increased serum testosterone level, Abnormal vagina morphology, Hirsuti... ORPHA:247768
Hepatic Adenomas, Familial
Polycystic ovaries OMIM:142330
Asperger Syndrome, X-Linked, Susceptibility To, 2
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors OMIM:608631
Buschke-Ollendorff Syndrome
Joint stiffness, Osteopoikilosis, Flexion contracture OMIM:166700
Premature Ovarian Failure 1
Irregular menstruation, Premature ovarian insufficiency, Increased circulating gonadotropin level OMIM:311360
46,Xy Complete Gonadal Dysgenesis
Testicular dysgenesis, Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism ORPHA:242
Avascular Necrosis Of Femoral Head, Primary, 1
Avascular necrosis of the capital femoral epiphysis, Generalized osteoporosis OMIM:608805
Estrogen Resistance
Primary amenorrhea, Hyperinsulinemia, Hypoplasia of the uterus OMIM:615363
Uterine Anomalies
Abnormality of the uterus, Bicornuate uterus OMIM:192000
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Increased serum testosterone level, Gonadal dys... ORPHA:206484
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Perrault Syndrome 3
Hypoplasia of the uterus, Primary amenorrhea, Hypergonadotropic hypogonadism OMIM:614129
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Pituitary Adenoma 2, Growth Hormone-Secreting
Pituitary adenoma, Elevated circulating growth hormone concentration OMIM:300943
Spermatogenic Failure 38
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618433
Plin1-Related Familial Partial Lipodystrophy
Infertility, Loss of subcutaneous adipose tissue in limbs, Oligomenorrhea, Insulin-resistant diab... ORPHA:280356
Functioning Gonadotropic Adenoma
Abnormal prolactin level, Oligospermia, Increased serum testosterone level, Abnormality of the me... ORPHA:91348
46,Xx Sex Reversal 2
True hermaphroditism, Sex reversal, Bifid scrotum, Azoospermia, Hypoplasia of the vagina, Micrope... OMIM:278850
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia OMIM:233650
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Osteomesopyknosis
Increased bone mineral density OMIM:166450
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
46,Xy Sex Reversal 3
Sex reversal, Elevated circulating follicle stimulating hormone level, Penoscrotal hypospadias, E... OMIM:612965
Ghosal Hematodiaphyseal Dysplasia
Abnormality of femur morphology, Diaphyseal thickening, Bowing of the long bones, Abnormal cortic... ORPHA:1802
Partial Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Hypospadias, Increased serum testosterone level, Aplasia o... ORPHA:90797
Premature Ovarian Failure 9
Amenorrhea, Premature ovarian insufficiency, Increased circulating gonadotropin level OMIM:615724
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
Polycystic Ovary Syndrome 1
Oligomenorrhea, Hirsutism, Amenorrhea, Obesity, Enlarged polycystic ovaries OMIM:184700
Xp22.3 Microdeletion Syndrome
Secondary amenorrhea, Hypogonadotropic hypogonadism, Polycystic ovaries, Decreased fertility ORPHA:1643
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Cranial hyperostosis, Diaphyseal thickening, Abnormal cortical bone m... ORPHA:3416
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Mayer-Rokitansky-Kuster-Hauser Syndrome
Amenorrhea, Aplasia of the vagina, Hypoplasia of the uterus OMIM:277000
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Increased circulating progesterone, Hypospadias, Aplasia of the uterus, Bifid scrotum, Elevated c... ORPHA:90793
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of cervical vertebral bodies, Sclerotic scapulae, Absent ossification of thor... OMIM:601376
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Estrogen Resistance Syndrome
Overgrowth, Tall stature, Absence of pubertal development, Absence of secondary sex characteristi... ORPHA:785
Multiple Symmetric Lipomatosis
Abnormal adipose tissue morphology, Multiple lipomas, Insulin resistance ORPHA:2398
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency OMIM:300511
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Prader-Willi syndrome (Type 1)
Hypogonadism, Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Hypogonadism, Truncal obesity DECIPHER:53
Ovarian Fibrothecoma
Abnormality of the endometrium, Abnormality of the ovary, Increased serum testosterone level, Hir... ORPHA:314478
46,Xy Sex Reversal 1
Sex reversal, Elevated circulating follicle stimulating hormone level, Gonadoblastoma, Tall statu... OMIM:400044
Hypogonadism-Cataract Syndrome
Hypogonadism, Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone l... OMIM:240950
X-Linked Intellectual Disability, Van Esch Type
Type II diabetes mellitus, Failure to thrive, Absence of secondary sex characteristics, Increased... ORPHA:163976
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia OMIM:277180
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure, Y-Linked, 2
Azoospermia OMIM:415000
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Decreased circulating aldosterone level, Increased serum testosterone level, Increased circulatin... OMIM:202010
Spermatogenic Failure 35
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618341
Spermatogenic Failure 33
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618152
Spermatogenic Failure 34
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618153
Spermatogenic Failure 18
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617576
Spermatogenic Failure 20
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617593
Spermatogenic Failure 19
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617592
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
46,Xx Ovotesticular Disorder Of Sex Development
Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali... ORPHA:2138
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermato... ORPHA:399805
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Erectile dysfunction, Decreased fertility ORPHA:481
Non-Functioning Pituitary Adenoma
Adrenal insufficiency, Increased serum testosterone level, Abnormality of the menstrual cycle, De... ORPHA:91349
49,Xyyyy Syndrome
Micrognathia, Radioulnar synostosis, Lower limb asymmetry, Azoospermia, Large hands, Finger clino... ORPHA:99330
Ring Chromosome Y Syndrome
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Abnormality of the male geni... ORPHA:261529
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Craniodiaphyseal Dysplasia
Facial hyperostosis, Cranial hyperostosis, Diaphyseal sclerosis, Diaphyseal dysplasia OMIM:218300
46,Xy Sex Reversal 7
Gonadal dysgenesis, male, Sex reversal, Streak ovary, Gonadoblastoma, Hypoplasia of the fallopian... OMIM:233420
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypospadias, Increased serum testosterone level, Hirsutism, Premature adrenarche, Ambiguous genit... ORPHA:90791
Isolated Follicle Stimulating Hormone Deficiency
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... ORPHA:52901
Chromosome Xq27.3-Q28 Duplication Syndrome
Small for gestational age, Small hand, Increased circulating gonadotropin level, Hypogonadism, Sh... OMIM:300869
X-Linked Intellectual Disability, Cilliers Type
Hypospadias, Failure to thrive, Small hand, Absence of secondary sex characteristics, Increased c... ORPHA:163971
Ovarian Dysgenesis 8
Hypoplastic labia majora, Elevated circulating follicle stimulating hormone level, Osteoporosis, ... OMIM:618187
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Polycystic ovaries, Precocious puberty, Hypergonadotropic hypogonadism ORPHA:2229
Normosmic Congenital Hypogonadotropic Hypogonadism
Secondary amenorrhea, Micropenis, Camptodactyly, Breast hypoplasia, Hypogonadotropic hypogonadism... ORPHA:432
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Secondary amenorrhea, Abnormality of the Leydig cells, Oligomenorrhea,... OMIM:228300
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification OMIM:602475
49,Xxxyy Syndrome
Abnormal plantar dermatoglyphics, Micrognathia, Finger clinodactyly, External genital hypoplasia,... ORPHA:261534
Lipodystrophy, Partial, Acquired, Susceptibility To
Hirsutism, Progressive loss of facial adipose tissue, Polycystic ovaries, Loss of truncal subcuta... OMIM:608709
Premature Ovarian Failure 8
Ovarian neoplasm, Primary amenorrhea, Premature ovarian insufficiency, Increased circulating gona... OMIM:615723
Immunodeficiency 24
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Decreased circula... OMIM:615897
Isochromosomy Yp
Ambiguous genitalia, Male infertility, Decreased testicular size, Azoospermia ORPHA:98797
Osteopetrosis, Autosomal Recessive 6
Dense metaphyseal bands, Osteopetrosis, Cortical sclerosis of the iliac wing, Erlenmeyer flask de... OMIM:611497
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Gnathodiaphyseal Dysplasia
Thickened cortex of long bones, Bowing of the long bones, Osteopenia, Mandibular osteomyelitis, R... ORPHA:53697
Spermatogenic Failure 46
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... OMIM:619095
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Hypogonadism, Osteoporosis, Osteopenia OMIM:615270
Sclerosteosis
Diaphyseal thickening, Abnormal cortical bone morphology, Finger syndactyly, Curved distal phalan... ORPHA:3152
Aromatase Deficiency
Female pseudohermaphroditism, Primary amenorrhea, Ovarian cyst, Hypergonadotropic hypogonadism OMIM:613546
Rudiger Syndrome
Bicornuate uterus, Micropenis, Ovarian cyst OMIM:268650
Obesity Due To Congenital Leptin Deficiency
Orthostatic hypotension due to autonomic dysfunction, Insulin-resistant diabetes mellitus, Pituit... ORPHA:66628
Mueller-Weiss Syndrome
Sclerosis of foot bone, Abnormality of the os naviculare pedis, Positional foot deformity, Limita... ORPHA:566943
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Elevated circulating parathyroid hormone level, Genu varum, Generalized bone demineralization, Th... OMIM:600785
Obesity Due To Leptin Receptor Gene Deficiency
Orthostatic hypotension due to autonomic dysfunction, Insulin-resistant diabetes mellitus, Pituit... ORPHA:179494
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Tibial bowing, Increased bone mineral density, Femora... OMIM:166740
47,Xyy Syndrome
Hypospadias, Macroorchidism, Increased serum testosterone level, Oligospermia, Azoospermia, Tall ... ORPHA:8
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Secondary amenorrhea, Type II diabetes mellitus, Polycystic ovaries, Short toe, Kyphosis, Broad f... ORPHA:3085
Endosteal Hyperostosis, Worth Type
Diaphyseal thickening, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicular ... ORPHA:2790
Eiken Syndrome
Limited elbow flexion, Abnormal acetabulum morphology, Thin bony cortex, Narrow pelvis bone, Meta... ORPHA:79106
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... OMIM:618751
Spermatogenic Failure 49
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619094
Autosomal Recessive Spastic Paraplegia Type 26
Skeletal muscle atrophy, Abnormality of the urinary system, Hyperintensity of cerebral white matt... ORPHA:101006
Nephrotic Syndrome, Type 14
Adrenal insufficiency, Focal segmental glomerulosclerosis, Hypoglycemia, Nephrotic syndrome, Stag... OMIM:617575
Satoyoshi Syndrome
Abnormality of the ovary, Genu varum, Abnormal hair morphology, Abnormality of the knee, Amenorrh... ORPHA:3130
Mccune-Albright Syndrome
Increased serum testosterone level, Renal tubular dysfunction, Goiter, Increased circulating cort... ORPHA:562
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i... ORPHA:983
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia OMIM:616941
Bdv Syndrome
Central hypothyroidism, Micrognathia, Type II diabetes mellitus, Decreased circulating free T4 le... OMIM:619326
Premature Ovarian Failure 2B
Primary amenorrhea, Premature ovarian insufficiency, Delayed puberty OMIM:300604
Preimplantation Embryonic Lethality 2
Infertility OMIM:617234
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Bardet-Biedl Syndrome 12
Hypogonadism, Obesity OMIM:615989
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Menorrhagia, Oligomenorrhea, Amenorrhea, Polycystic ovaries, Abnormalit... ORPHA:2795
Syndromic X-Linked Intellectual Disability 7
Hypogonadism, Micropenis, Obesity, Cryptorchidism, Hypoplasia of penis, Sparse body hair ORPHA:85274
Spermatogenic Failure 42
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... OMIM:618745
Spermatogenic Failure 24
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Short sperm flagella, Microcep... OMIM:617959
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
Mullerian Aplasia And Hyperandrogenism
Amenorrhea, Aplasia of the uterus, Aplasia of the vagina, Aplasia/Hypoplasia of the fallopian tube OMIM:158330
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating progesterone, Increased serum testosterone level, Aplasia of the uterus, Hy... ORPHA:90794
Pituicytoma
Increased circulating prolactin concentration, Amenorrhea, Hypogonadotropic hypogonadism, Pituita... ORPHA:251623
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Azoospermia, Hypogonadism, Primary amenorrhea, Decreased testicular size OMIM:229070
Immunodeficiency 40
Lymphopenia OMIM:616433
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615269
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased serum testosterone level, Hirsutism, Premature adrenarche, Ambiguous genitalia, female,... ORPHA:90795
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circl... OMIM:618987
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615271
Leydig Cell Hypoplasia
Hypospadias, Secondary amenorrhea, Aplasia of the uterus, Abnormal external genitalia, Micropenis... ORPHA:755
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Triphalangeal thumb, Sparse pubic hair, Agonadism, Contracture of the proximal interphalangeal jo... ORPHA:2232
Acrocapitofemoral Dysplasia
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... OMIM:607778
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Abnormality of the ovary, Decreased testicular size ORPHA:1875
Premature Ovarian Failure 11
Secondary amenorrhea, Oligomenorrhea, Elevated circulating follicle stimulating hormone level OMIM:616946
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Obesity, Diabetes mellitus, Overweight OMIM:613375
Isochromosomy Yq
Azoospermia, Varicocele, Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia... ORPHA:98798
Mucocutaneous Ulceration, Chronic
Vaginal mucosal ulceration OMIM:618287
Insulin-Resistance Syndrome Type B
Autoimmunity, Increased serum testosterone level, Fasting hypoglycemia, Abnormality of body weigh... ORPHA:2298
Immunodeficiency 84
B lymphocytopenia, Perianal abscess, Splenomegaly OMIM:619437
Familial Partial Lipodystrophy, Köbberling Type
Polycystic ovaries, Pancreatitis, Lipoatrophy, Diabetes mellitus, Hyperinsulinemia ORPHA:79084
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Cortisone Reductase Deficiency 1
Infertility, Oligomenorrhea, Hirsutism, Obesity, Precocious puberty OMIM:604931
Rhizomelic Dysplasia, Ain-Naz Type
Hypoplasia of the femoral head, Rhizomelia, Hip dysplasia, Limitation of joint mobility, Wide dis... OMIM:619598
Ovarian Dysgenesis 1
Gonadal dysgenesis, Primary amenorrhea, Increased circulating gonadotropin level OMIM:233300
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Hydrocolpos, Dysmenorrhea, Metrorrhagia, Uterus didelphys, Dyspareunia, Partial vaginal septum, A... ORPHA:3411
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
46,Xx Sex Reversal 5
Aplasia of the left hemidiaphragm, Increased serum testosterone level, Ambiguous genitalia, Uroge... OMIM:618901
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Testicular Agenesis
Vanishing testis, Decreased serum testosterone concentration, Urethrovaginal fistula, Abnormal va... ORPHA:325124
Spermatogenic Failure 3
Infertility OMIM:606766
Oocyte Maturation Defect 3
Infertility OMIM:617712
Oocyte Maturation Defect 4
Infertility OMIM:617743
Spermatogenic Failure 17
Infertility OMIM:617214
Oocyte Maturation Defect 1
Infertility OMIM:615774
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 5
Infertility OMIM:617996
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Bicornuate uterus, Hypoplasia of the uterus, Azoospermia OMIM:601076
Androgen Insensitivity Syndrome
Aplasia/Hypoplasia of the fallopian tube, Aplasia/hypoplasia of the uterus, Abnormal morphology o... ORPHA:754
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Truncal obesity, Neonatal hypoglycemia, Large for gestational age, Abno... ORPHA:293964
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Exostoses of the radius, Increased bone mineral density, Deformed humerus,... ORPHA:85188
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Hirsutism, Loss of subcutaneous adipose tissue in limbs, Oligomenorrhea, Insul... OMIM:604367
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm morphology, Abnormal sperm tail morphology, Increased circulating gonadotropin lev... ORPHA:399808
Progeria-Short Stature-Pigmented Nevi Syndrome
Hypospadias, Insulin-resistant diabetes mellitus, Micropenis, Premature ovarian insufficiency, Ab... ORPHA:2959
Popliteal Pterygium Syndrome
Hypoplastic labia majora, Bifid scrotum, Hypoplasia of the vagina, Cryptorchidism, Hypoplasia of ... OMIM:119500
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility ORPHA:48
Fibular Hemimelia
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... ORPHA:93323
Mayer-Rokitansky-Küster-Hauser Syndrome
Aplasia of the uterus, Hypoplasia of the vagina ORPHA:3109
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Enlarged epiphyses, Osteoporosis, Joint contracture of the hand, Osteopenia, Camptodactyly OMIM:264010
Post-Traumatic Pituitary Deficiency
Abnormal prolactin level, Abnormality of secondary sexual hair, Infertility, Hypoglycemia, Amenor... ORPHA:95619
Osteomalacia, Sclerosing, With Cerebral Calcification
Generalized osteosclerosis, Osteomalacia, Increased bone mineral density OMIM:259660
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Infertility, Hypogonadotropic hypogonadism, Micropenis, Primary amenorrhea, Cryptorchidism, Decre... OMIM:146110
46,Xy Sex Reversal 5
Elevated circulating follicle stimulating hormone level OMIM:613080
Xq27.3Q28 Duplication Syndrome
Failure to thrive, Truncal obesity, Hypogonadism, Premature ovarian insufficiency, Cryptorchidism... ORPHA:261483
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicul... OMIM:614840
Caffey Disease
Tibial bowing, Bowing of the legs, Periosteal thickening of long tubular bones, Cortical irregula... OMIM:114000
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Lipodystrophy, Familial Partial, Type 6
Lipodystrophy, Abdominal obesity, Diabetes mellitus, Insulin resistance OMIM:615980
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Decreased response to growth hormone stimulation test, Panhypopituitarism, Hypothyroidism OMIM:300123
Isolated Osteopoikilosis
Sclerotic foci in hand bones, Sclerosis of foot bone, Abnormality of femur morphology, Abnormal b... ORPHA:166119
Polyembryoma
Macroorchidism, Increased serum testosterone level, Increased serum serotonin, Abnormal sacrum mo... ORPHA:180229
Hypergonadotropic Hypogonadism-Cataract Syndrome
Osteoporosis, Secondary growth hormone deficiency, Absence of secondary sex characteristics, Incr... ORPHA:2410
Acromesomelic Dysplasia 2A
Aplasia/Hypoplasia of the patella, Valgus hand deformity, Pes valgus, Aplasia/Hypoplasia of metat... OMIM:200700
Neurologic Disease, Infantile Multisystem, With Osseous Fragility
Hip subluxation, Hip dislocation, Recurrent fractures, Osteoporosis OMIM:256720
Bardet-Biedl Syndrome 6
Hypospadias, External genital hypoplasia, Renal cyst, Diabetes mellitus, Obesity OMIM:605231
Hydatidiform Mole, Recurrent, 3
Infertility OMIM:618431
Maternal Uniparental Disomy Of Chromosome 6
Increased serum testosterone level, Eczema, Spontaneous abortion, Clitoral hypertrophy, Congenita... ORPHA:96181
Seckel Syndrome 7
Central hypothyroidism, Primary amenorrhea, Hypoplasia of the uterus OMIM:614851
Growth Hormone Insensitivity Syndrome
Fine hair, Hypoglycemia, Diabetes insipidus, Type II diabetes mellitus, Insulin resistance, Failu... ORPHA:181393
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Hypersecretion Of Adrenal Androgens, Familial
Adrenal overactivity, Hirsutism, Amenorrhea, Increased circulating androgen concentration, Premat... OMIM:145295
Congenital Factor Vii Deficiency
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Post-partum hemorrhage, Prolonged prothr... ORPHA:327
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity, Increased bone mineral density, Tall stature OMIM:618406
Familial Cylindromatosis
Telangiectasia of the skin ORPHA:211
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormality of the knee, Foot acroosteolysis, Tapered finger, Abnormality of epiphysis morphology... ORPHA:970
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Symptomatic Form Of Hemochromatosis Type 1
Splenomegaly, Diabetes mellitus, Stiff interphalangeal joints, Portal hypertension, Infertility, ... ORPHA:465508
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Porokeratosis 2, Palmar, Plantar, And Disseminated Type
Plantar telangiectasia, Palmar telangiectasia OMIM:175850
Bardet-Biedl Syndrome 10
Hypogonadism, Obesity, Renal cyst OMIM:615987
Aarskog-Scott Syndrome
Elevated circulating follicle stimulating hormone level, Pes planus, Syndactyly, Elevated circula... OMIM:305400
Hyperostosis Frontalis Interna
Hypertrichosis, Diabetes mellitus, Obesity, Irregular menstruation, Increased circulating prolact... OMIM:144800
Hip Dysplasia, Beukes Type
Abnormality of bone mineral density, Abnormality of epiphysis morphology, Abnormality of the epip... ORPHA:2114
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age, Neonatal hypoglycemia OMIM:240900
Femoral-Facial Syndrome
Micrognathia, Maternal diabetes, Long penis, Talipes equinovarus, Abnormal sacrum morphology, Abn... ORPHA:1988
Bardet-Biedl Syndrome 5
Hypogonadism, Obesity, Micropenis, External genital hypoplasia OMIM:615983
Akt2-Related Familial Partial Lipodystrophy
Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, Lipodystrophy, Decreased... ORPHA:79085
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
46,Xx Sex Reversal 1
Hypospadias, True hermaphroditism, Sex reversal, Elevated circulating follicle stimulating hormon... OMIM:400045
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Oligomenorrhea, Insulin-resistant diabetes mellitus... ORPHA:435660
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Infertility OMIM:608653
Rabson-Mendenhall Syndrome
Increased serum testosterone level, Fasting hypoglycemia, Hirsutism, Insulin-resistant diabetes m... ORPHA:769
Dysplastic Cortical Hyperostosis
Limb undergrowth, Increased bone mineral density, Abnormality of limb bone morphology, Abnormal c... ORPHA:2204
Intellectual Developmental Disorder, Autosomal Recessive 66
Aggressive behavior, Shyness OMIM:618221
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Thickened cortex of long bones, Osteopetrosis, Calvarial osteoscleros... OMIM:607634
Galactosemia I
Aminoaciduria, Increased level of galactitol in urine, Failure to thrive, Albuminuria, Premature ... OMIM:230400
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Oligomenorrhea, Insulin-resistant diabetes mellitus... ORPHA:435651
Satoyoshi Syndrome
Alopecia universalis, Alopecia, Amenorrhea, Hypoplasia of the uterus OMIM:600705
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity, Cryptorchidism, Thick eyebrow OMIM:309585
Morbid Obesity And Spermatogenic Failure
Oligospermia, Hypertension, Infertility, Type II diabetes mellitus, Azoospermia, Insulin resistan... OMIM:615703
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypospadias, Hallux valgus, Bifid scrotum, Short metatarsal, Ambiguous genitalia, female, Urogeni... ORPHA:1772
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Blepharophimosis, Ptosis, And Epicanthus Inversus
Highly arched eyebrow, Amenorrhea, Sparse pubic hair, Increased circulating gonadotropin level, F... OMIM:110100
Osteoporosis
Osteoporosis OMIM:166710
Isolated Growth Hormone Deficiency, Type Ib
Decreased response to growth hormone stimulation test OMIM:612781
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis, Metaphyseal dysplasia OMIM:615198
Congenital Generalized Lipodystrophy
Precocious puberty in females, Hypertrichosis, Oligomenorrhea, Low anterior hairline, Amenorrhea,... ORPHA:528
Extensor Tendons Of Finger Anomalies
Osteoporosis, Limitation of joint mobility, Camptodactyly of finger ORPHA:3294
Distal Osteosclerosis
Craniofacial osteosclerosis, Hyperostosis, Diaphyseal sclerosis OMIM:126250
Autism, Susceptibility To, X-Linked 3
Lack of peer relationships, Impaired use of nonverbal behaviors OMIM:300496
Autism, Susceptibility To, X-Linked 1
Lack of peer relationships, Impaired use of nonverbal behaviors OMIM:300425
Autism
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors OMIM:209850
Autism, Susceptibility To, 8
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors OMIM:607373
Chromosome 15Q11-Q13 Duplication Syndrome
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors OMIM:608636
Acromesomelic Dysplasia 3
Fibular aplasia, Tarsal synostosis, Talipes equinovarus, Short finger, Short toe, Short phalanx o... OMIM:609441
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Micropenis, Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Cernunnos-Xlf Deficiency
B lymphocytopenia, Decreased circulating antibody level, Anemia, Lymphopenia, Thrombocytopenia, T... ORPHA:169079
46,Xx Gonadal Dysgenesis
Abnormality of secondary sexual hair, Secondary amenorrhea, Streak ovary, Aplasia/hypoplasia of t... ORPHA:243
Kennerknecht Syndrome
Omphalocele, Long eyelashes, Agonadism, Abdominal obesity, Hypoplasia of the uterus OMIM:600908
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Proximal muscle weakness in lower limbs, Type II diabetes mellitus, Hypog... ORPHA:453533
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Elevated cir... ORPHA:171706
Capillary Malformation-Arteriovenous Malformation 2
Telangiectasia OMIM:618196
Premature Ovarian Failure 5
Secondary amenorrhea, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Premature ovaria... OMIM:611548
Preeclampsia
Hypertension, Elevated diastolic blood pressure, Small for gestational age, Polycystic ovaries, I... ORPHA:275555
Ovarian Hyperstimulation Syndrome
Increased serum testosterone level, Hemorrhagic ovarian cyst, Hirsutism, Increased circulating go... ORPHA:64739
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hypogonadotropic hypogonadism, Micropenis, Primary amenorrhea, Diabetes mellitus, Obesity, Crypto... OMIM:610628
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Alopecia of scalp, Failure to thrive, Splenomegaly, Hypogonadism, Decreased testicular size, Decr... OMIM:201100
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Upper limb undergrowth, Abnormal cortical bone morphology, Pathologic fracture, Short foot, Toe c... ORPHA:166277
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Weismann-Netter Syndrome
Abnormality of tibia morphology, Abnormality of the ulna, Tibial bowing, Fibular bowing, Abnormal... ORPHA:3344
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries ORPHA:2228
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Abnormality of the Leydig cells, Aplasia of the uterus, Elevated circulating follicle stimulating... ORPHA:168558
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Abnormality of the Leydig cells, Aplasia of the uterus, Elevated circulating follicle stimulating... ORPHA:289548
Epiphyseal Dysplasia, Multiple, 5
Irregular epiphyses, Delayed tarsal ossification, Arthralgia of the hip, Small epiphyses, Prematu... OMIM:607078
Endosteal Hyperostosis, Autosomal Dominant
Thickened cortex of long bones, Hyperostosis, Metatarsal diaphyseal endosteal sclerosis, Clavicul... OMIM:144750
Immunodeficiency 12
Osteoporosis OMIM:615468
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Decreased serum estradiol, Micropenis, Hypothalamic gonadotropin-releasi... OMIM:618841
Winchester Syndrome
Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the feet, Generalize... OMIM:277950
Renal Cysts And Diabetes Syndrome
Hypospadias, Atretic vas deferens, Pancreatic hypoplasia, Ureteropelvic junction obstruction, Dia... OMIM:137920
Melorheostosis
Ectopic ossification in muscle tissue, Lower limb asymmetry, Hyperostosis, Arthritis, Increased b... ORPHA:2485
Igg4-Related Retroperitoneal Fibrosis
Anti-thyroid peroxidase antibody positivity, Rheumatoid factor positive, Ureteropelvic junction o... ORPHA:49041
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Splenomegaly, Hypersplenism, Decreased helper T cell proportion, Pancytopenia OMIM:183350
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Amed Syndrome, Digenic
Failure to thrive, Adrenal hypoplasia, Microcephaly, Hypoplasia of the uterus OMIM:619151
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Bicornuate uterus, Aplasia/hypoplasia of the uterus, Azoospermia ORPHA:2578
Persistent Mullerian Duct Syndrome, Types I And Ii
Abnormal circulating hormone concentration, Abnormality of male internal genitalia, Male infertil... OMIM:261550
Ataxia-Telangiectasia
Type II diabetes mellitus, Skeletal muscle atrophy, Failure to thrive, Polycystic ovaries, Telang... ORPHA:100
Multiple Epiphyseal Dysplasia With Robin Phenotype
Irregular epiphyses, Micrognathia, Metatarsus adductus, Flat capital femoral epiphysis, Talipes e... OMIM:601560
Moyamoya Disease 1
Telangiectasia, Inflammatory arteriopathy OMIM:252350
Woodhouse-Sakati Syndrome
Abnormal T-wave, Streak ovary, Insulin-resistant diabetes mellitus, Alopecia, Hypoplasia of the f... ORPHA:3464
Myotonic Dystrophy 2
Oligospermia, Elevated circulating follicle stimulating hormone level, Palpitations, Tachycardia,... OMIM:602668
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Premature ovarian insufficiency ORPHA:2278
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Agammaglobulinemia, Lymphopenia OMIM:200900
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Truncal obesity, Postnatal growth retardation, Abdominal obesity, Decreased response to growth ho... OMIM:618160
Familial Male-Limited Precocious Puberty
Oligospermia, Macroorchidism, Long penis, Male infertility, Precocious puberty ORPHA:3000
Cranio-Osteoarthropathy
Abnormality of the knee, Osteoarthritis, Abnormal cortical bone morphology, Arthritis, Deviation ... ORPHA:1525
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Hydatidiform Mole, Recurrent, 4
Recurrent spontaneous abortion, Female infertility OMIM:618432
Immunodeficiency 76
B lymphocytopenia, Lymphadenopathy, Splenomegaly, Lymphopenia, T lymphocytopenia OMIM:619164
Immunodeficiency 61
Obesity, Attention deficit hyperactivity disorder, Agammaglobulinemia, Arthritis OMIM:300310
Testicular Anomalies With Or Without Congenital Heart Disease
Testicular dysgenesis, Micropenis, Ambiguous genitalia, Perineal hypospadias, Cryptorchidism, Mic... OMIM:615542
Frasier Syndrome
Gonadal dysgenesis with female appearance, male, Hypertension, Streak ovary, Gonadoblastoma, Incr... ORPHA:347
Immunodeficiency 15A
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... OMIM:618204
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin-resistant diabetes mellitus, Elevated circulating growth hormone concentration, Polycysti... ORPHA:90301
Ane Syndrome
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Pituitary hypothyroi... ORPHA:157954
Lethal Recessive Chondrodysplasia
Micrognathia, Flared elbow metaphyses, Generalized osteosclerosis, Limb undergrowth, Short long b... ORPHA:1423
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Spermatogenic Failure 5
Functional abnormality of male internal genitalia, Male infertility OMIM:243060
Lipodystrophy, Familial Partial, Type 7
Decreased adipose tissue around neck, Lack of facial subcutaneous fat, Loss of subcutaneous adipo... OMIM:606721
Epiphyseal Dysplasia, Multiple, 7
Monkey wrench femoral neck, Genu varum, Epiphyseal dysplasia, Hypoplasia of the capital femoral e... OMIM:617719
Tetrasomy X
Premature ovarian insufficiency ORPHA:9
Temple Syndrome
Micrognathia, Small for gestational age, Maturity-onset diabetes of the young, Recurrent otitis m... OMIM:616222
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Obesity, Premature ovarian insufficiency OMIM:618124
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating progesterone, Adrenal hyperplasia, Oligospermia, Hypospadias, Hirsutism, Fu... ORPHA:95699
Immunodeficiency, Common Variable, 13
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level OMIM:616873
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Tarsal synostosis, Micrognathia, Flat capital femoral epiphysis, Patellar aplasia, Hypoplasia of ... OMIM:147891
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmunity, Lymphadenopathy, Splenomegaly, Increased proportion autoreactive unresponsive CD21-... OMIM:615559
Central Precocious Puberty
Abnormality of secondary sexual hair, Overgrowth, Hypothalamic hamartoma, Increased circulating g... ORPHA:759
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Abnormal penis morphology, Goiter, Abnormality of the menstrual cycle, Alopecia, Polycystic ovari... ORPHA:457059
Type 2 Diabetes Mellitus
Type II diabetes mellitus, Increased waist to hip ratio, Insulin resistance OMIM:125853
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Secondary amenorrhea, Polycystic ovaries, Hypergonadotropic hypogonadism OMIM:268020
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Highly arched eyebrow, Lacrimal gland aplasia, Secondary amenorrhea, Oligomenorrhea, Elevated cir... ORPHA:572333
Cortisone Reductase Deficiency 2
Obesity, Insulin resistance, Premature pubarche OMIM:614662
Gordon Holmes Syndrome
Hypogonadotropic hypogonadism, Infertility, Oligomenorrhea OMIM:212840
Slc35A2-Cdg
Talipes equinovarus, Elevated circulating thyroid-stimulating hormone concentration, Hip subluxat... ORPHA:356961
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Increased bone mineral density, Hypophosphatemic rickets, Rickets OMIM:241520
Oliver-Mcfarlane Syndrome
Hypoplasia of penis, Small for gestational age, Hypogonadotropic hypogonadism, Alopecia, Long eye... OMIM:275400
Osteoporosis, Juvenile
Osteoporosis OMIM:259750
Woodhouse-Sakati Syndrome
Fine hair, Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Alopecia,... OMIM:241080
Immunodeficiency 14A, Autosomal Dominant
Decreased specific pneumococcal antibody level, Increased proportion of transitional B cells, Dec... OMIM:615513
Pituitary Dwarfism With Large Sella Turcica
Decreased response to growth hormone stimulation test, Hypothyroidism OMIM:262710
Familial Expansile Osteolysis
Bowing of the long bones, Thin bony cortex, Osteolysis, Pathologic fracture OMIM:174810
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Low posterior hairline, Hypogonadism, Abnormal testis morphology, Obesity, Abnormal hair quantity... ORPHA:2233
Bardet-Biedl Syndrome 19
Hypogonadism, Obesity, External genital hypoplasia OMIM:615996
Reticular Dysgenesis
Lack of T cell function, Leukopenia, Impaired T cell function, Hypoplasia of the thymus, Congenit... OMIM:267500
Isolated Growth Hormone Deficiency, Type Ii
Decreased response to growth hormone stimulation test OMIM:173100
Panhypopituitarism, X-Linked
Panhypopituitarism OMIM:312000
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Primary amenorrhea, Gonadal dysgenesis, Hypergonadotropic hypogonadism OMIM:607080
Lead Poisoning
Oligospermia, Abnormal sperm morphology, Imbalanced hemoglobin synthesis, Renal tubular dysfuncti... ORPHA:330015
Otopalatodigital Syndrome Type 1
Hypoplastic frontal sinuses, Abnormal vertebral segmentation and fusion, Bowing of the long bones... ORPHA:90650
Bangstad Syndrome
Increased circulating cortisol level, Polycystic ovaries, Abnormal testis morphology, Abnormality... ORPHA:1227
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Brachydactyly, Osteoporosis, Short distal phalanx of finger, Joint hyperflexibility ORPHA:2787
Oocyte Maturation Defect 10
Female infertility, Spontaneous abortion OMIM:619176
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
Leptin Receptor Deficiency
Abnormal hypothalamus morphology, Aggressive behavior, Pituitary hypothyroidism, Recurrent upper ... OMIM:614963
Epiphyseal Dysplasia, Multiple, 1
Irregular epiphyses, Small epiphyses, Hip osteoarthritis, Avascular necrosis of the capital femor... OMIM:132400
Intellectual Developmental Disorder With Autism And Speech Delay
Impaired social interactions OMIM:606053
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating follicle stimulating hormone level, Sparse pubic hair, Eunuchoid habitus, Ty... ORPHA:3044
Retinal Dystrophy With Or Without Extraocular Anomalies
Secondary amenorrhea, Goiter, Premature ovarian insufficiency OMIM:617175
Silver-Russell Syndrome
Hypospadias, Premature adrenarche, Abnormal appendicular skeleton morphology, Micrognathia, Hyper... ORPHA:813
Leukoencephalopathy, Progressive, With Ovarian Failure
Premature ovarian insufficiency OMIM:615889
Leptin Deficiency Or Dysfunction
Hypogonadism, Micropenis, Primary amenorrhea, Obesity, Decreased testicular size OMIM:614962
Angioosteohypotrophic Syndrome
Abnormal foot morphology, Upper limb undergrowth, Thin bony cortex, Hypoplasia of the radius, Abn... ORPHA:75508
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Proximal femoral metaphyseal irregularity, Proximal humeral metaphyseal irregularity, Genu varum,... OMIM:183849
Flynn-Aird Syndrome
Joint stiffness, Osteoporosis, Increased bone mineral density, Increased bone density with cystic... OMIM:136300
Pparg-Related Familial Partial Lipodystrophy
Hypertrophic cardiomyopathy, Abnormality of skeletal muscle fiber size, Myopathy, Maternal diabet... ORPHA:79083
Tibial Aplasia-Ectrodactyly Syndrome
Abnormality of femur morphology, Patellar aplasia, Fibular hypoplasia, Split hand, Finger syndact... ORPHA:3329
Chondrodysplasia, Blomstrand Type
Micrognathia, Generalized osteosclerosis, Short ribs, Advanced ossification of carpal bones, Flar... OMIM:215045
Bardet-Biedl Syndrome 4
External genital hypoplasia, Renal cyst, Hypogonadism, Obesity, Cryptorchidism OMIM:615982
Brachyolmia Type 1, Hobaek Type
Short iliac bones, Sclerotic foci of metaphyses of the elbow, Short long bone, Osteopenia, Short ... OMIM:271530
Panhypophysitis
Normochromic anemia, Decreased female libido, Adrenocorticotropin deficient adrenal insufficiency... ORPHA:95513
Fanconi Anemia
Hypospadias, Aplasia/Hypoplasia of fingers, Abnormality of the ulna, Abnormal foot morphology, Tr... ORPHA:84
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Obstructive azoospermia, Male infertility OMIM:301060
Aromatase Deficiency
Macroorchidism, postpubertal, Type II diabetes mellitus, Tall stature, Insulin resistance, Ambigu... ORPHA:91
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Vaginal fistula ORPHA:2597
Autoimmune Lymphoproliferative Syndrome
Autoimmunity, Thyroid carcinoma, Elevated proportion of CD4-negative, CD8-negative, alpha-beta re... ORPHA:3261
Acrodysostosis
Abnormality of the ulna, Cone-shaped epiphysis, Epiphyseal stippling, Short metatarsal, Hypoplasi... ORPHA:950
Adenohypophysitis
Normochromic anemia, Decreased female libido, Adrenocorticotropin deficient adrenal insufficiency... ORPHA:95512
Metaphyseal Chondrodysplasia, Spahr Type
Short lower limbs, Metaphyseal dysplasia, Genu varum, Abnormality of epiphysis morphology, Bowing... ORPHA:2501
Familial Partial Lipodystrophy, Dunnigan Type
Secondary amenorrhea, Loss of subcutaneous adipose tissue in limbs, Dysmenorrhea, Polycystic ovar... ORPHA:2348
Bardet-Biedl Syndrome 16
Hypogonadism, Obesity, External genital hypoplasia, Renal cyst OMIM:615993
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Congenital diaphragmatic hernia, Polycystic ovaries, Truncal obesity, High anteri... ORPHA:284180
Spermatogenic Failure 4
Recurrent spontaneous abortion, Azoospermia OMIM:270960
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Truncal obesity, Insulin resistance ORPHA:140941
Pituitary Adenoma 1, Multiple Types
Hypertension, Increased serum insulin-like growth factor 1, Pituitary growth hormone cell adenoma... OMIM:102200
Acquired Partial Lipodystrophy
Lipoatrophy, Insulin resistance ORPHA:79087
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Micrognathia, Maturity-onset diabetes of the young, Recurrent otitis media, Small hand, Poor eye ... ORPHA:254531
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Hypospadias, Abnormal vagina morphology, Streak ovary, Gonadoblastoma, Abnormality of the uterus,... OMIM:194072
Distal Monosomy 10P
Cryptorchidism, Hypoplasia of penis, Polycystic ovaries ORPHA:1580
Hyperprolactinemia
Menorrhagia, Infertility, Oligomenorrhea, Increased circulating prolactin concentration OMIM:615555
48,Xxyy Syndrome
Chronic otitis media, Abnormal dental enamel morphology, Pes planus, Elbow dislocation, Anxiety, ... ORPHA:10
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Telangiectasia, Hereditary Benign
Diffuse telangiectasia OMIM:187260
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Lipodystrophy, Reduced subcutaneous adipose tissue, Generalized lipodystrophy... OMIM:612526
Donohue Syndrome
Fasting hypoglycemia, Hypertrichosis, Skeletal muscle atrophy, Long penis, Hyperglycemia, Large h... OMIM:246200
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Amenorrhea, Premature ovarian insufficiency OMIM:619425
Bardet-Biedl Syndrome 1
Hirsutism, Foot polydactyly, Micropenis, Syndactyly, Nephrogenic diabetes insipidus, Diabetes mel... OMIM:209900
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis
Partial vaginal septum, Uterus didelphys, Hematocolpos OMIM:192050
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Obesity, Cryptorchidism, Hypoplasia of penis, Aplasia/Hypoplasia of the testes ORPHA:3055
Cystic Echinococcosis
Eosinophilia, Jaundice, Splenic cyst, Biliary tract obstruction, Hepatic cysts, Renal cyst, Ovari... ORPHA:400
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Decreased circulating IgG level, Lymphopenia, Decreased circulating t... OMIM:247630
Mehmo Syndrome
Hypoglycemia, Small for gestational age, Aggressive behavior, Micropenis, Male hypogonadism, Inab... OMIM:300148
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... ORPHA:411593
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Aplasia of the uterus, Hypoparathyroidism, Uterus didelphys, Septate vagina, Primary amenorrhea, ... OMIM:146255
Spondylometaphyseal Dysplasia, Pagnamenta Type
Thin bony cortex, Short 5th metacarpal, Rhizomelia, Pes planus, Femoral bowing, Broad thumb, Shor... OMIM:619638
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypogonadotropic hypogonadism, Osteoporosis, Secondary growth hormone deficiency, Absence of seco... ORPHA:2235
Intermediate Osteopetrosis
Abnormality of bone mineral density, Generalized osteosclerosis, Increased susceptibility to frac... ORPHA:210110
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Azoospermia, Hypogonadotropic hypogonadism, Decreased circulating follicle st... OMIM:308700
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, External genital hypoplasia, Hypogonadism, Diabetes mellitus, Obesity OMIM:615981
Luscan-Lumish Syndrome
Overgrowth, Hirsutism, Polycystic ovaries, High anterior hairline, Obesity, Irregular menstruation OMIM:616831
Hypophosphatemic Rickets, X-Linked Dominant
Elevated circulating parathyroid hormone level, Tibial bowing, Fibular bowing, Bowing of the legs... OMIM:307800
Metatropic Dysplasia
Abnormal cortical bone morphology, Abnormality of the metaphysis, Coarse metaphyseal trabeculariz... ORPHA:2635
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Infertility, Hypogonadotropic hypogonadism, Abnormality of the urethra, Ambiguous genitalia, Cryp... ORPHA:752
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hor... OMIM:308750
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity, Finger joint hypermobility, Gait disturbance ORPHA:436141
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Joint stiffness, Obesity ORPHA:1078
Spondyloepiphyseal Dysplasia Congenita
Abnormal foot morphology, Upper limb undergrowth, Micrognathia, Small epiphyses, Laryngotracheoma... ORPHA:94068
Immunodeficiency 75
Lymphadenopathy, Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Folli... OMIM:619126
Vaginal Atresia
Imperforate hymen, Vaginal hematocele, Uterus didelphys, Abnormality of the uterus, Vaginal atres... ORPHA:65681
Galactokinase Deficiency
Hepatomegaly, Hypergalactosemia, Hypoglycemia, Small for gestational age, Increased level of gala... ORPHA:79237
Congenital Disorder Of Glycosylation, Type Ig
Hypospadias, Short femur, Small for gestational age, Talipes equinovarus, Failure to thrive, Rhiz... OMIM:607143
Hymen, Imperforate
Hydrocolpos, Imperforate hymen, Amenorrhea, Hematocolpos OMIM:237100
Urban-Rogers-Meyer Syndrome
Toe syndactyly, Micrognathia, Abnormality of the ureter, Flexion contracture of toe, Abnormality ... ORPHA:3409
48,Xxxy Syndrome
Talipes equinovarus, Chronic otitis media, Renal dysplasia, Abnormal dental enamel morphology, Pe... ORPHA:96263
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Hypoglycemia, Portal fibrosis, Splenomegaly, Abnormal erythrocyte enzyme le... ORPHA:264580
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Multiple prenatal fractures, Short ribs, Micropenis, Short femur, Hypertrophic cardi... OMIM:616897
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Micrognathia, Hypoglycemia, Small for gestational age, Insulin resistance, Failure to thrive, Neo... ORPHA:73272
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Type II diabetes mellitus, Hyperinsulinemia, Obesity, Childhood-onset t... ORPHA:71529
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Telangiectasia, Micrognathia, Insulin resistance, Osteoporosis, Kyphosis, Hypogonadism, Diabetes ... OMIM:615381
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Renal hypoplasia, Micrognathia, Ventricular septal defect, Abnormality of mesentery morphology, H... ORPHA:2256
Pseudoachondroplasia
Genu varum, Metaphyseal irregularity, Abnormality of femoral epiphysis, Limited elbow extension, ... ORPHA:750
Borjeson-Forssman-Lehmann Syndrome
Hypoplasia of the prostate, Widely spaced toes, Tapered finger, Shortening of all distal phalange... OMIM:301900
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Azoospermia, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size OMIM:614897
Pituitary Hormone Deficiency, Combined, 2
Adrenal insufficiency, Neonatal hypoglycemia, Hypogonadism, Panhypopituitarism, Hypothyroidism, H... OMIM:262600
Immunodeficiency 68
B lymphocytopenia, Lymphadenitis, Abscess, T lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Combined Immunodeficiency Due To Partial Rag1 Deficiency
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... ORPHA:231154
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Fractures of the long bones, Osteopetrosis, Generalized osteosclerosis, Mandi... OMIM:166600
Caffey Disease
Cortical thickening of long bone diaphyses, Periosteal thickening of long tubular bones, Increase... ORPHA:1310
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hypospadias, Metatarsus adductus, Micrognathia, Hydronephrosis, Aminoaciduria, Talipes equinovaru... OMIM:214100
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Type II diabetes mellitus, Small scrotum, Eunuchoid habitus, Hypogonadism, Obesity, Hypoplasia of... ORPHA:2234
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hypertension, Nephrotic syndrome, Anemia, Hyperlordosis, Type I diabetes mellitus, Nephropathy, L... ORPHA:1192
Immunodeficiency 13
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased CD... OMIM:615518
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial osteosclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis, Cortical sclerosis OMIM:122860
Gnathodiaphyseal Dysplasia
Diaphyseal cortical sclerosis, Increased susceptibility to fractures, Bowing of the long bones, O... OMIM:166260
Temple Syndrome
Type II diabetes mellitus, Small for gestational age, Small hand, Precocious puberty, Recurrent h... ORPHA:254516
Adrenocortical Carcinoma