banner
Genes Phenotypes Help, News, Blog

Gene: Etv5 MGI:1096867

Log in to follow
Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
ets variant 5
Synonyms:
1110005E01Rik,  erm,  8430401F14Rik

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Etv5 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

The table below shows human diseases predicted to be associated to Etv5 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Digital Clubbing, Isolated Congenital
Clubbing OMIM:119900
Tendons, Extensor, Of Fingers, Anomalous Insertion Of
Abnormal finger morphology OMIM:187390
Trigger Thumb
Abnormal thumb morphology OMIM:190410
Syndactyly Type 2
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... ORPHA:93403
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Polydactyly, Postaxial, Type A9
Postaxial foot polydactyly, Postaxial hand polydactyly OMIM:618219
Polydactyly, Postaxial, Type A10
Postaxial foot polydactyly, Postaxial hand polydactyly, Postaxial polydactyly type A OMIM:618498
Oliver Syndrome
Postaxial hand polydactyly OMIM:258200
Polydactyly, Postaxial, Type A2
Postaxial hand polydactyly OMIM:602085
Polydactyly, Preaxial I
Preaxial hand polydactyly, Partial duplication of thumb phalanx, Radial deviation of thumb termin... OMIM:174400
Syndactyly, Type Iv
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... OMIM:186200
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Polydactyly, Postaxial, Type A1
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... OMIM:174200
Polydactyly, Preaxial Iv
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... OMIM:174700
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Triphalangeal Thumb With Polysyndactyly
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... OMIM:190605
Polydactyly, Preaxial Ii
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... OMIM:174500
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... ORPHA:529970
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus OMIM:234280
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Synpolydactyly 1
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... OMIM:186000
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Spermatogenic Failure 8
Azoospermia, Cryptozoospermia, Oligozoospermia OMIM:613957
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Isochromosomy Yp
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... ORPHA:98797
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Dandy-Walker Malformation-Postaxial Polydactyly Syndrome
Postaxial hand polydactyly ORPHA:1566
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Congenital Radioulnar Synostosis
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
Camptosynpolydactyly, Complex
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly OMIM:607539
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Polydactyly, Postaxial, Type A5
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis OMIM:263450
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Syndactyly Type 1
Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand ORPHA:93402
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Preaxial Hallucal Polydactyly
Preaxial hand polydactyly, Preaxial foot polydactyly OMIM:601759
Isochromosomy Yq
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... ORPHA:98798
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Brachydactyly, Type C
Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... OMIM:113100
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Syndactyly-Polydactyly-Earlobe Syndrome
Broad toe, Preaxial hand polydactyly, 1-2 toe complete cutaneous syndactyly, Preaxial foot polyda... OMIM:186350
Spermatogenic Failure 24
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... OMIM:617959
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Santos Syndrome
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... OMIM:613005
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Scalp Defects And Postaxial Polydactyly
Postaxial polydactyly type A OMIM:181250
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... ORPHA:93405
Bardet-Biedl Syndrome 11
Hypogonadism, Polydactyly, Obesity OMIM:615988
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Bardet-Biedl Syndrome 5
Syndactyly, External genital hypoplasia, Obesity, Hypogonadism, Polydactyly, Micropenis, Brachyda... OMIM:615983
Ectrodactyly-Polydactyly Syndrome
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... ORPHA:1892
Polydactyly, Postaxial, Type A7
Postaxial foot polydactyly, Postaxial hand polydactyly, Short fifth metatarsal, 2-3 toe cutaneous... OMIM:617642
Syndactyly, Type Iii
Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger OMIM:186100
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
Acropectoral Syndrome
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb OMIM:605967
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
Ectrodactyly-Polydactyly
Split hand, Postaxial hand polydactyly, Split foot OMIM:225290
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias
Short thumb, Postaxial hand polydactyly, Short 5th finger, Short 2nd toe OMIM:176305
Spermatogenic Failure 17
Male infertility OMIM:617214
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... OMIM:620356
Bardet-Biedl Syndrome 10
Renal insufficiency, Obesity, Renal cyst, Hypogonadism, Polydactyly OMIM:615987
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... OMIM:618167
Synpolydactyly 2
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation OMIM:261550
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Ring Chromosome Y Syndrome
Male infertility, Bifid scrotum, Ambiguous genitalia, Streak ovary, Unilateral cryptorchidism, Hy... ORPHA:261529
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Polydactyly, Postaxial, With Progressive Myopia
Postaxial hand polydactyly OMIM:174310
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Split-Foot Malformation With Mesoaxial Polydactyly
1-2 toe syndactyly, Mesoaxial hand polydactyly, 4-5 toe syndactyly, Split hand, Split foot OMIM:616890
Bardet-Biedl Syndrome 4
Syndactyly, External genital hypoplasia, Cryptorchidism, Obesity, Renal cyst, Hypogonadism, Polyd... OMIM:615982
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl... ORPHA:488232
Morbid Obesity And Spermatogenic Failure
Obesity, Oligozoospermia, Azoospermia, Type II diabetes mellitus, Infertility OMIM:615703
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Jawad Syndrome
Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd... OMIM:251255
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty OMIM:300604
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... OMIM:616950
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Mesomelia, Brac... OMIM:611263
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Congenital Absence Of Upper Arm And Forearm With Hand Present
Syndactyly, Small for gestational age, Upper limb phocomelia, Stillbirth, Polydactyly, Abnormal h... ORPHA:294975
Hyperprolactinemia
Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea, Female infertility OMIM:615555
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Bardet-Biedl Syndrome 7
Postaxial polydactyly, 2-3 toe syndactyly, Obesity, Hypogonadism, Polydactyly, Clinodactyly OMIM:615984
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... OMIM:619949
Ciliary Dyskinesia, Primary, 41
Infertility, Recurrent sinusitis, Immotile sperm OMIM:618449
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614840
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Postaxial Oligodactyly, Tetramelic
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... OMIM:176240
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... ORPHA:399808
Postaxial Tetramelic Oligodactyly
Abnormal finger morphology, Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology ORPHA:2730
Microphthalmia, Isolated 4
Absent testis, Postaxial polydactyly OMIM:613094
Triphalangeal Thumbs With Brachyectrodactyly
Short 3rd toe, Split hand, Split foot, Triphalangeal thumb, Short 2nd finger, Brachydactyly OMIM:190680
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Preaxial foot polydactyly, Postaxial hand polydactyly, Triphalangeal thumb ORPHA:2091
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Bardet-Biedl Syndrome 16
Renal insufficiency, External genital hypoplasia, Obesity, Renal cyst, Stage 5 chronic kidney dis... OMIM:615993
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Carpenter Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, External genital hypoplasia, Abnormal reproductive... ORPHA:65759
Split-Hand/Foot Malformation 4
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... OMIM:605289
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity, Postaxial foot polydactyly, Hypogonadism, Polydactyly OMIM:617119
Brachydactyly-Syndactyly Syndrome
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... OMIM:610713
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... OMIM:300200
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Abnormality of the sense of sm... OMIM:146110
Biemond Syndrome Type 2
Hypospadias, Hypogonadotropic hypogonadism, Preaxial polydactyly, Obesity, Hypogonadism, Delayed ... ORPHA:141333
Split-Hand/Foot Malformation 6
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly OMIM:225300
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Asherman Syndrome
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... ORPHA:137686
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Postaxial polydactyly, Cryptorchidism, Obesity, Nephrocalcinosis, Short long bone, Brachydactyly OMIM:615633
Split-Hand/Foot Malformation 2
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger OMIM:313350
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
X-Linked Intellectual Disability, Cilliers Type
Hypergonadotropic hypogonadism, Hypospadias, Prominent nasal bridge, Shyness, Cryptorchidism, Inc... ORPHA:163971
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi... OMIM:612310
X-Linked Intellectual Disability, Van Esch Type
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... ORPHA:163976
Bardet-Biedl Syndrome 8
Hypospadias, Hypogonadism, Obesity, Postaxial polydactyly OMIM:615985
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Meckel Syndrome, Type 11
Polydactyly OMIM:615397
Bardet-Biedl Syndrome 19
Renal insufficiency, Mesoaxial hand polydactyly, Postaxial polydactyly, External genital hypoplas... OMIM:615996
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Postaxial polydactyly OMIM:213010
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Spermatogenic Failure 14
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... OMIM:615842
Tetramelic Monodactyly
Split hand, Oligodactyly ORPHA:2564
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... OMIM:308750
Autosomal Recessive Spastic Paraplegia Type 46
Reduced sperm motility, Infertility, Abnormal sperm morphology, Decreased testicular size, Abnorm... ORPHA:320391
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... OMIM:229070
Orofaciodigital Syndrome Xviii
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Preaxial polydactyly, Genu va... OMIM:617927
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Ciliary Dyskinesia, Primary, 46
Recurrent sinusitis, Reduced sperm motility OMIM:619436
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Bardet-Biedl Syndrome 9
Syndactyly, Renal insufficiency, Postaxial polydactyly, Postaxial hand polydactyly, Irregular men... OMIM:615986
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Primary amenorrhea, Decreased testicular ... OMIM:614858
Heart-Hand Syndrome Type 2
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the hume... ORPHA:1350
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Nasal polyposis, Coiled sperm flagella, Recurrent sinusitis, Short sperm flagella OMIM:620197
Polydactyly, Postaxial, Type A6
Postaxial foot polydactyly, Postaxial hand polydactyly, Broad phalanges of the 5th finger OMIM:615226
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Preaxial foot polydactyly, Polysyndactyly of hallux OMIM:235750
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Obesity, Primary ameno... OMIM:610628
Laurin-Sandrow Syndrome
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A... OMIM:135750
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism, Bulbous nose, Obesity OMIM:300238
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism... ORPHA:91
Camptobrachydactyly
Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly OMIM:114150
Silver-Russell Syndrome Due To A Point Mutation
Bifid scrotum, Syndactyly, Hypospadias, Dysmenorrhea, Small for gestational age, Cryptorchidism, ... ORPHA:397590
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent inner dynein arms, Absent outer dynein arms, Rhinitis, Recurrent sinusit... OMIM:614874
Bardet-Biedl Syndrome 17
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Polyuria, Postaxial h... OMIM:615994
Orofaciodigital Syndrome Xvii
Short middle phalanx of the 2nd finger, Partial duplication of thumb phalanx, Central Y-shaped me... OMIM:617926
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Cryptorchidism, Hypospadias, Polydactyly, Hypoplastic ischia OMIM:616910
Bardet-Biedl Syndrome 12
Hydroureter, Postaxial hand polydactyly, Hydrometrocolpos, Obesity, Cystic renal dysplasia, Posta... OMIM:615989
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
49,Xxxyy Syndrome
Eunuchoid habitus, Decreased serum testosterone concentration, External genital hypoplasia, Abnor... ORPHA:261534
Ciliary Dyskinesia, Primary, 11
Recurrent sinusitis, Abnormal central microtubular pair morphology of respiratory motile cilia, C... OMIM:612649
Ciliary Dyskinesia, Primary, 45
Male infertility, Chronic rhinitis, Absent inner and outer dynein arms OMIM:618801
Premature Ovarian Failure 20
Secondary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follic... OMIM:619938
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism, Limited elbow extension, Tapered finger OMIM:300706
Ciliary Dyskinesia, Primary, 12
Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia... OMIM:612650
Ciliary Dyskinesia, Primary, 26
Absent outer dynein arms, Rhinitis, Infertility, Recurrent sinusitis, Reduced sperm motility OMIM:615500
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility, Recurrent sinusitis, Nasal congestion OMIM:300991
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Abnormal external genitalia, Small for gestational age, Upper limb asymmetry, Polydactyly, Decrea... ORPHA:231140
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Reduced sperm motility OMIM:602271
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Primary amenorrhea, Absence of pubertal d... OMIM:614837
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Short long bone, Polydactyly, Brachydactyly OMIM:613819
Laurence-Moon Syndrome
Small scrotum, Abnormality of the hand, Obesity, Polydactyly, Micropenis OMIM:245800
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Ciliary Dyskinesia With Defective Radial Spokes
Nasal polyposis, Absent respiratory ciliary axoneme radial spokes, Chronic rhinitis, Immotile sperm OMIM:242670
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... ORPHA:2378
Lead Poisoning
Decreased female libido, Small for gestational age, Abnormality of the autonomic nervous system, ... ORPHA:330015
Bardet-Biedl Syndrome 6
Syndactyly, Diabetes mellitus, Hypospadias, External genital hypoplasia, Postaxial polydactyly, O... OMIM:605231
Bardet-Biedl Syndrome 3
External genital hypoplasia, Postaxial polydactyly, Renal hypoplasia, Obesity, Brachydactyly OMIM:600151
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Small for gestational age, Decrea... ORPHA:1916
Senior-Loken Syndrome 9
Hypoplasia of the femoral head, Stage 5 chronic kidney disease, Obesity, Tubulointerstitial nephr... OMIM:616629
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Obesity, Reduced circulating prolactin concentration OMIM:264120
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum testosterone concentration, Cryptorchidism, Anosmia, Primary amenorrhea, Decrease... OMIM:614897
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Anteverted nares, Testicular atrophy OMIM:601163
X-Linked Intellectual Disability, Shashi Type
Macroorchidism, Bulbous nose, Obesity ORPHA:85286
Hirschsprung Disease-Deafness-Polydactyly Syndrome
Postaxial hand polydactyly, Foot polydactyly ORPHA:2155
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
Ciliary Dyskinesia, Primary, 14
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... OMIM:613807
Ciliary Dyskinesia, Primary, 22
Nasal polyposis, Absent inner and outer dynein arms, Rhinitis, Infertility, Recurrent sinusitis, ... OMIM:615444
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ... OMIM:614324
Ciliary Dyskinesia, Primary, 15
Nasal polyposis, Abnormal axonemal organization of respiratory motile cilia, Infertility, Immotil... OMIM:613808
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Short toe, Preaxia... ORPHA:2756
Nephronophthisis 15
Polydactyly, Obesity, Nephronophthisis OMIM:614845
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy, Failure to thrive, Premature ovarian insufficiency, Female infertility OMIM:619518
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... ORPHA:93322
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... ORPHA:91351
Hemochromatosis, Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... OMIM:235200
Joubert Syndrome 17
Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly OMIM:614615
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone... OMIM:616030
Aarskog-Scott Syndrome
Hyperextensibility of the finger joints, Syndactyly, Decreased serum testosterone concentration, ... OMIM:305400
Orofaciodigital Syndrome Xi
Postaxial polydactyly OMIM:612913
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Anosmi... OMIM:614841
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Cone-shaped... OMIM:617102
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Myotonic Dystrophy 1
Hypogonadism, Facial diplegia, Testicular atrophy, Cholelithiasis OMIM:160900
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... ORPHA:99429
Androgen Insensitivity, Partial
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... OMIM:312300
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Nasal congestion, Optic disc pallor, Reduced sperm motility OMIM:615434
Ciliary Dyskinesia, Primary, 9
Male infertility, Absent outer dynein arms, Chronic rhinitis, Recurrent sinusitis OMIM:612444
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Ciliary Dyskinesia, Primary, 5
Recurrent sinusitis, Nasal polyposis, Chronic rhinitis, Reduced sperm motility OMIM:608647
Joubert Syndrome 20
4-5 toe syndactyly, Postaxial polydactyly OMIM:614970
Joubert Syndrome 37
Postaxial polydactyly, Cryptorchidism, Obesity, Hydronephrosis, Micropenis, Decreased testicular ... OMIM:619185
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Joubert Syndrome 40
Postaxial polydactyly OMIM:619582
Suleiman-El-Hattab Syndrome
Single transverse palmar crease, Cryptorchidism, Polydactyly, Clinodactyly, Failure to thrive, Hy... OMIM:618950
48,Xxxy Syndrome
Hypoplasia of penis, Small scrotum, Cryptorchidism, Depressed nasal ridge, Obesity, Azoospermia, ... ORPHA:96263
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Hand polydactyly, Foot polydactyly, Short finger, Short ti... OMIM:258860
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Diabetes mellitus, Small for gestational age, Broad nasal tip, Prominent nose, Oligozoospermia, C... OMIM:614813
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Crossed fused renal ectopia, Overlapping toe, Postaxial polydactyly, Unilateral renal agenesis, P... OMIM:618142
Gapo Syndrome
Anteverted nares, Dysmenorrhea, Depressed nasal bridge, Choanal atresia, Optic atrophy, Oligozoos... ORPHA:2067
Joubert Syndrome 23
Polydactyly OMIM:616490
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Weight loss, Hypogonadism, Abnorma... ORPHA:85450
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Culler-Jones Syndrome
Ectopic posterior pituitary, Hypopituitarism, Anterior pituitary hypoplasia, Postaxial polydactyl... OMIM:615849
Hypomelia With Mullerian Duct Anomalies
Postaxial hand polydactyly, Split hand OMIM:146160
Ciliary Dyskinesia, Primary, 19
Male infertility, Nasal polyposis, Absent inner and outer dynein arms, Rhinitis, Recurrent sinusitis OMIM:614935
Ivic Syndrome
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... OMIM:147750
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Joubert Syndrome 15
Ambiguous genitalia, Micropenis, Preaxial polydactyly, Nephronophthisis OMIM:614464
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Female infertility, Goiter OMIM:617577
Myotonic Dystrophy 2
Type II diabetes mellitus, Hypogonadism, Elevated circulating follicle stimulating hormone level,... OMIM:602668
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Meckel Syndrome, Type 3
Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly OMIM:607361
Al-Gazali-Bakalinova Syndrome
Epiphyseal dysplasia, Tapered finger, Flattened epiphysis, Genu valgum, Polydactyly, Clinodactyly OMIM:607131
9Q21.13 Microdeletion Syndrome
Cryptorchidism, Hip dysplasia, Polydactyly, Hydronephrosis ORPHA:531151
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Meckel Syndrome, Type 8
Polydactyly, Talipes equinovarus, Polycystic kidney dysplasia, Ambiguous genitalia, Enlarged kidney OMIM:613885
Classic Galactosemia
Male infertility, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, ... ORPHA:79239
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Hypospadias, Micromeli... OMIM:614091
Bardet-Biedl Syndrome 20
Proteinuria, Postaxial polydactyly, Bilateral cryptorchidism, Postaxial hand polydactyly, 2-3 toe... OMIM:619471
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Septooptic Dysplasia
Polydactyly, Short finger OMIM:182230
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Cryptorchidism, Failure to thrive, Proximal renal tubular acidosis, Postaxial polydactyly OMIM:615824
Endocrine-Cerebroosteodysplasia
Small scrotum, Single transverse palmar crease, Micromelia, Adrenal hypoplasia, Preaxial polydact... OMIM:612651
Meckel Syndrome, Type 10
Ulnar deviation of the hand, Hypospadias, Postaxial polydactyly, Postaxial hand polydactyly, Rena... OMIM:614175
Wolfram Syndrome 1
Neurogenic bladder, Diabetes mellitus, Diabetes insipidus, Hydroureter, Limited mobility of proxi... OMIM:222300
Nevus Comedonicus Syndrome
Finger syndactyly, Toe syndactyly, Preaxial polydactyly ORPHA:64754
Conotruncal Heart Malformations
Broad hallux, Postaxial polydactyly OMIM:217095
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Pancreatic fibrosis, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Sho... OMIM:615503
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Weight loss, Infertility, Erect... ORPHA:465508
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... ORPHA:90796
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Decreased serum insulin-like growth factor 1, Long nose, Elevated circulating gro... ORPHA:85327
Joubert Syndrome 10
Postaxial polydactyly OMIM:300804
Cone-Rod Dystrophy 16
Postaxial polydactyly OMIM:614500
Chromosome 3Pter-P25 Deletion Syndrome
Small for gestational age, Overlapping toe, Postaxial polydactyly, Tapered finger, Cryptorchidism OMIM:613792
Bardet-Biedl Syndrome 1
Syndactyly, Diabetes mellitus, Postaxial polydactyly, Nephrogenic diabetes insipidus, Postaxial h... OMIM:209900
Joubert Syndrome 16
Polydactyly OMIM:614465
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... OMIM:613091
Joubert Syndrome 18
Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Talipes equinovarus, Camptodactyly OMIM:614815
20P13 Microdeletion Syndrome
Finger syndactyly, Failure to thrive in infancy, Polydactyly, Decreased body weight, Clinodactyly... ORPHA:313781
Intellectual Developmental Disorder, Autosomal Dominant 23
Broad distal phalanx of finger, Hypospadias, Sandal gap, Postaxial polydactyly OMIM:615761
11Q22.2Q22.3 Microdeletion Syndrome
Abnormal social behavior, Depressed nasal bridge, Obesity ORPHA:444002
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Short metatarsa... ORPHA:1772
Carney Complex
Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Abn... ORPHA:1359
Primary Ciliary Dyskinesia
Male infertility, Nasal polyposis, Female infertility, Nasal congestion, Chronic rhinitis, Abnorm... ORPHA:244
3Mc Syndrome 3
Bifid scrotum, Cryptorchidism, Preaxial polydactyly, Horseshoe kidney, Micropenis, Radioulnar syn... OMIM:248340
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Phocomelia, Split hand, Foot polydactyly ORPHA:3004
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Syndactyly, Polydactyly OMIM:602501
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... OMIM:110100
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Rhizomelia, Postaxial polydactyly, Cryptorchidism, Squared iliac bones, Preaxial polydactyly, Ren... OMIM:616300
Joubert Syndrome 27
Polydactyly OMIM:617120
Fanconi Anemia, Complementation Group A
Male infertility, Hypergonadotropic hypogonadism, Small for gestational age, Absent thumb, Absent... OMIM:227650
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Ulnar bowing, ... OMIM:617866
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly ORPHA:2921
Bloom Syndrome
Male infertility, Premature ovarian insufficiency, Diabetes mellitus, Small for gestational age, ... ORPHA:125
Macrodactyly
Macrodactyly OMIM:155500
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Arachnodactyly, Postaxial polydactyly, Tapered finger, Genu valgum, Clinodactyly of the 5th finge... OMIM:619721
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Orofaciodigital Syndrome Type 6
Syndactyly, Mesoaxial polydactyly, Bilateral cryptorchidism, Central Y-shaped metacarpal, Preaxia... ORPHA:2754
Testicular Agenesis
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... ORPHA:325124
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radius, Ambigu... OMIM:617895
Syngap1-Related Developmental And Epileptic Encephalopathy
Hypospadias, Postaxial polydactyly ORPHA:544254
Tarp Syndrome
Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hypoplasia of the rad... OMIM:311900
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Facial palsy, Primary amenorrhea... OMIM:157640
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis ORPHA:2239
Pelger-Huet Anomaly
Upper limb undergrowth, Polydactyly, Short 3rd metacarpal, Failure to thrive, Short 4th metacarpa... OMIM:169400
Retinitis Pigmentosa 89
Postaxial polydactyly OMIM:618955
Joubert Syndrome 7
Postaxial polydactyly, Postaxial hand polydactyly, Stage 5 chronic kidney disease, Renal cyst, Ge... OMIM:611560
Retinitis Pigmentosa 51
Polydactyly OMIM:613464
Meckel Syndrome, Type 2
Bowing of the long bones, Polydactyly, Postaxial hand polydactyly OMIM:603194
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Postaxial polydactyly, Cryptorchidism, 2-3 toe syndactyly, Postaxial foot polydactyly, Broad dist... ORPHA:404440
Miller-Dieker Lissencephaly Syndrome
Failure to thrive, Single transverse palmar crease, Cryptorchidism, Deep palmar crease, Polydacty... OMIM:247200
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Mend Syndrome
Overlapping toe, Broad hallux, Long fingers, Cryptorchidism, 2-3 toe syndactyly, Polydactyly, Ove... OMIM:300960
Dyrk1A-Related Intellectual Disability Syndrome
Hallux valgus, Toe syndactyly, Arachnodactyly, Hypospadias, Anterior pituitary hypoplasia, Small ... ORPHA:464306
Tarp Syndrome
Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Cr... ORPHA:2886
Hsd10 Disease
Abnormal social behavior, Optic atrophy ORPHA:391417
Cardioacrofacial Dysplasia 1
Limb undergrowth, Postaxial polydactyly, Genu valgum OMIM:619142
Otopalatodigital Syndrome Type 2
Bowing of the long bones, Hypospadias, Tarsal synostosis, Short hallux, Camptodactyly of finger, ... ORPHA:90652
Fg Syndrome Type 1
Hypospadias, Optic nerve hypoplasia, Choanal atresia, Prominent nose, Cryptorchidism, Small pitui... ORPHA:93932
Lesch-Nyhan Syndrome
Hip dislocation, Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Testicular atrophy OMIM:300322
Orofaciodigital Syndrome V
Unilateral cryptorchidism, Sandal gap, Postaxial polydactyly, Postaxial hand polydactyly, Horsesh... OMIM:174300
Orofaciodigital Syndrome Vi
Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxial polydactyly, Pr... OMIM:277170
Ciliary Dyskinesia, Primary, 1
Male infertility, Nasal polyposis, Absent outer dynein arms, Anosmia, Chronic rhinitis OMIM:244400
3P25.3 Microdeletion Syndrome
Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Postaxial polydactyly... ORPHA:435638
Duane-Radial Ray Syndrome
Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Vesicoureteral reflux, Upper lim... OMIM:607323
Hogue-Janssen Syndrome 2
Deviation of the 5th finger, Hip dysplasia, Broad hallux, Postaxial polydactyly OMIM:616362
Acromelic Frontonasal Dysostosis
Syndactyly, Cryptorchidism, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia,... OMIM:603671
Turner Syndrome Due To Structural X Chromosome Anomalies
Ectopic kidney, Dermatoglyphic ridges abnormal, Hashimoto thyroiditis, Short 5th metacarpal, Hype... ORPHA:99413
Turner Syndrome
Ectopic kidney, Dermatoglyphic ridges abnormal, Hashimoto thyroiditis, Short 5th metacarpal, Hype... ORPHA:881
Mosaic Monosomy X
Ectopic kidney, Dermatoglyphic ridges abnormal, Hashimoto thyroiditis, Short 5th metacarpal, Hype... ORPHA:99228
Monosomy X
Ectopic kidney, Dermatoglyphic ridges abnormal, Hashimoto thyroiditis, Short 5th metacarpal, Hype... ORPHA:99226
Rhombencephalosynapsis
Finger syndactyly, Polydactyly, Abnormality of the uterus, Complete duplication of thumb phalanx,... ORPHA:59315
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... ORPHA:572333
Pseudoaminopterin Syndrome
Brachydactyly, Overlapping toe, Single transverse palmar crease, Limited elbow movement, Postaxia... ORPHA:221120
Mend Syndrome
Failure to thrive, Prominent nasal bridge, Abnormal auditory evoked potentials, Cryptorchidism, A... ORPHA:401973
Adnp Syndrome
Broad hallux, Single transverse palmar crease, Sandal gap, Urinary incontinence, Abnormal toe mor... ORPHA:404448
Prader-Willi Syndrome Due To Translocation
Narrow nasal bridge, Anteverted nares, Hypogonadotropic hypogonadism, External genital hypoplasia... ORPHA:177907
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:95494
Pallister-Hall Syndrome
Small scrotum, Adrenal hypoplasia, Large for gestational age, Ectopic kidney, Gonadotropin defici... ORPHA:672
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Single transverse palmar crease, Micromelia, Delayed epiphyseal ossification, Preaxial polydactyl... OMIM:210710
Meckel Syndrome 14
Syndactyly, Bowing of the long bones, Postaxial polydactyly, Postaxial hand polydactyly, Postaxia... OMIM:619879
Tetrasomy 9P
Absent gallbladder, Cryptorchidism, Bulbous nose, Polymicrogyria, Oligozoospermia, Inappropriate ... ORPHA:3310
Senior-Loken Syndrome 8
Global glomerulosclerosis, Pancreatic cysts, Stage 5 chronic kidney disease, Polydactyly, Nephron... OMIM:616307
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Renal insufficiency, Abnormal acetabulum morphology, Hypospadias, Postaxial polydactyly, Supernum... ORPHA:397715
X-Linked Intellectual Disability, Snyder Type
Anteverted nares, Hypospadias, Prominent nasal bridge, Cryptorchidism, Bulbous nose, Abnormality ... ORPHA:3063
Carpenter Syndrome 2
Single transverse palmar crease, Bilateral cryptorchidism, Preaxial polydactyly, Coxa vara, Cutan... OMIM:614976
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hallux valgus, Hypospadias, Decreased response to growth hormone stimulation test, Premature thel... ORPHA:268261
Au-Kline Syndrome
Overlapping toe, Postaxial polydactyly, Coxa valga, Supernumerary nipple, Cryptorchidism, Chronic... OMIM:616580
Microphthalmia, Syndromic 6
Finger syndactyly, Thumb contracture, Toe syndactyly, Female hypogonadism, Single transverse palm... OMIM:607932
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Postaxial polydactyly, Hip dysplasia, Proximal tubulopathy, Failure to... OMIM:614576
Helsmoortel-Van Der Aa Syndrome
Broad hallux, Sandal gap, Decreased response to growth hormone stimulation test, Tapered finger, ... OMIM:615873
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Postaxial polydactyly, Epiphyseal stippling, Abnormal pelvic girdle bone morphology, ... OMIM:302960
Rubinstein-Taybi Syndrome 1
Single transverse palmar crease, Premature thelarche, Bilateral cryptorchidism, Papillary cystade... OMIM:180849
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Postaxial polydactyly, Septate vagina, Preaxial polydactyly, Hypoplastic pubi... OMIM:617925
Meckel Syndrome, Type 1
Syndactyly, Bowing of the long bones, Camptodactyly of finger, Postaxial polydactyly, External ge... OMIM:249000
Koolen-De Vries Syndrome Due To A Point Mutation
Small for gestational age, Hypospadias, Prominent nasal bridge, Testicular neoplasm, Underdevelop... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Small for gestational age, Hypospadias, Prominent nasal bridge, Testicular neoplasm, Underdevelop... ORPHA:363958
Cntnap2-Related Developmental And Epileptic Encephalopathy
Precocious puberty, Preaxial polydactyly, Obesity ORPHA:163681
Autosomal Dominant Polycystic Kidney Disease
Pancreatic cysts, Pituitary growth hormone cell adenoma, Reduced sperm motility ORPHA:730
Retinitis Pigmentosa 74
Polydactyly OMIM:616562
Rabson-Mendenhall Syndrome
Increased pineal volume, Enlarged ovaries, Precocious puberty, Insulin-resistant diabetes mellitu... ORPHA:769
Renal Cysts And Diabetes Syndrome
Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the young, Hypoplasia of the uterus, B... OMIM:137920
Lamb-Shaffer Syndrome
Abnormal social behavior, Optic atrophy, Broad nasal tip ORPHA:530983
Cranioectodermal Dysplasia 3
Rhizomelia, Sandal gap, Postaxial polydactyly, 2-4 toe syndactyly, 2-3 toe syndactyly, Brachydactyly OMIM:614099
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior ORPHA:101039
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Abnormality of thyroid physiology, Postaxial polydactyly, Tapered finger, Small hand, Hip disloca... OMIM:300968
Kinsship Syndrome
Single transverse palmar crease, Coxa valga, Hip dislocation, Renal hypoplasia, Fibular hypoplasi... OMIM:619297
Joubert Syndrome 39
Overweight, Polycystic kidney dysplasia, Joint contracture of the 5th finger, Postaxial polydactyly OMIM:619562
Choanal Atresia
Polydactyly ORPHA:137914
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Rocker bottom foot, Single transverse palmar crease, Postaxial polydactyly, Long fingers, Congeni... OMIM:617527
Basal Cell Nevus Syndrome 1
Ovarian fibroma, Down-sloping shoulders, Palmar pits, Irregular ossification of hand bones, Polyd... OMIM:109400
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Short humerus, Abnormal mitochondrial shape, Short femur, Hypospadias, Methylmalonic aciduria, 3-... ORPHA:17
Cystinosis, Nephropathic
Metaphyseal widening, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Ma... OMIM:219800
Orofaciodigital Syndrome I
Syndactyly, Proteinuria, Pancreatic cysts, Short 2nd toe, Ovarian cyst, Polydactyly, Radial devia... OMIM:311200
Degcags Syndrome
Syndactyly, Toe syndactyly, Hypospadias, Small for gestational age, Abnormal renal medulla morpho... OMIM:619488
Vater/Vacterl Association
Syndactyly, Hypospadias, Ectopic kidney, Absent radius, Short thumb, Hypoplasia of the radius, Pr... OMIM:192350
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Postaxial polydactyly, Aplastic clavicle, Micromelia, Preaxial polydactyly, Polycystic kidney dys... OMIM:616546
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Syndactyly, Broad hallux, Deviation of the hallux, Hypospadias, Avascular necrosis of the capital... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Syndactyly, Broad hallux, Deviation of the hallux, Hypospadias, Avascular necrosis of the capital... ORPHA:353277
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Postaxial polydactyly OMIM:603387
Steinert Myotonic Dystrophy
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... ORPHA:273
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Broad hallux, Postaxial polydactyly, Unilateral renal agenesis, Hip dysplasia, Aplasia of the vag... ORPHA:457284
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Postaxial polydactyly, Renal hypoplasia, Renal cyst, Vesicoureteral reflux,... OMIM:618460
Congenital Sialidosis Type 2
Polydactyly ORPHA:93400
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Polydactyly ORPHA:314655
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Postaxial polydactyly, Postaxial hand polydactyly, Hydrometrocolpos, Horseshoe kidney, Cone-shape... OMIM:617088
Stromme Syndrome
Stillbirth, Preaxial polydactyly, Hydronephrosis, Bilateral renal hypoplasia OMIM:243605
Joubert Syndrome 14
Renal cyst, Postaxial polydactyly OMIM:614424
Ventriculomegaly With Cystic Kidney Disease
Postaxial polydactyly OMIM:219730
Monosomy 9Q22.3
Palmar pits, Ovarian fibroma, Polydactyly, Large for gestational age ORPHA:77301
Cystic Fibrosis
Male infertility, Failure to thrive, Nasal polyposis OMIM:219700
Simpson-Golabi-Behmel Syndrome, Type 1
Renal cyst, Narrow greater sciatic notch, Short palm, Hypospadias, Cryptorchidism, Short greater ... OMIM:312870
Legius Syndrome
Nephrolithiasis, Ovarian neoplasm, Diaphyseal dysplasia, Polydactyly, Male urethral meatus stenos... ORPHA:137605
Noonan Syndrome 1
Male infertility, Hypospadias, Failure to thrive in infancy, Cryptorchidism, Hypogonadism, Radial... OMIM:163950
Lacrimoauriculodentodigital Syndrome 1
Hypoplasia of the ulna, Broad hallux, Absence of Stensen duct, Aplasia of the parotid gland, Abse... OMIM:149730
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Postaxial polydactyly, Supernumerary nipple, Cryptorchidism, Hip dysplasia, Talipes equinovarus, ... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Postaxial polydactyly, Supernumerary nipple, Cryptorchidism, Hip dysplasia, Talipes equinovarus, ... ORPHA:352665
Cranioectodermal Dysplasia 2
Syndactyly, Renal insufficiency, Rhizomelia, Postaxial hand polydactyly, Renal cyst, Polydactyly,... OMIM:613610
Orofaciodigital Syndrome Xiv
Broad hallux, Cryptorchidism, Postaxial hand polydactyly, Epispadias, Preaxial polydactyly, Unila... OMIM:615948
Neurocardiofaciodigital Syndrome
Syndactyly, Small for gestational age, Polydactyly, Vesicoureteral reflux, Failure to thrive OMIM:619869
Cerebrooculonasal Syndrome
Postaxial hand polydactyly, Postaxial polydactyly, Hypoplastic male external genitalia OMIM:605627
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Metachromatic Leukodystrophy, Adult Form
Decreased nerve conduction velocity, Optic atrophy, Neoplasm of the gallbladder, Abnormal social ... ORPHA:309271
Faciocardiomelic Syndrome
Slender long bone, Polydactyly, Hypoplastic pelvis OMIM:612731
Metachromatic Leukodystrophy, Late Infantile Form
Decreased nerve conduction velocity, Abnormal social behavior, Optic atrophy ORPHA:309256
Metachromatic Leukodystrophy, Juvenile Form
Decreased nerve conduction velocity, Abnormal social behavior, Optic atrophy ORPHA:309263
Okamoto Syndrome
Urinary incontinence, Bifid uterus, Unilateral renal hypoplasia, Hip dysplasia, Polydactyly, Uret... ORPHA:2729
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Hallux valgus, Congenital hip dislocation, Overlapping toe, Postaxial polydactyly, Tapered finger... ORPHA:480880
Williams Syndrome
Hypoplasia of penis, Hypogonadotropic hypogonadism, Failure to thrive in infancy, Precocious pube... ORPHA:904
Mullegama-Klein-Martinez Syndrome
Clinodactyly of the 5th finger, Failure to thrive, Polydactyly OMIM:301022
Biliary, Renal, Neurologic, And Skeletal Syndrome
Dark urine, Syndactyly, Renal insufficiency, Anterior pituitary hypoplasia, Postaxial polydactyly... OMIM:619534
Dihydropyrimidine Dehydrogenase Deficiency
Prominent nasal tip, Depressed nasal bridge, Abnormal social behavior, Anteverted nares ORPHA:1675
Childhood Absence Epilepsy
Abnormal social behavior ORPHA:64280
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Wide nose, Anteverted nares, Abnormal cortical gyration, Bulbous nose, Abnormal social behavior ORPHA:314647
Loeys-Dietz Syndrome 2
Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Absent distal phalanges, ... OMIM:610168
Early-Onset Autosomal Dominant Alzheimer Disease
Abnormal social behavior ORPHA:1020
Tuberous Sclerosis Complex
Pancreatic endocrine tumor, Pituitary adenoma, Parathyroid hyperplasia, Pheochromocytoma, Parathy... ORPHA:805
Niemann-Pick Disease Type C
Abnormal social behavior ORPHA:646

Histopathology

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

There is no histopathology data for Etv5

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Etv5.

No publications found that use IMPC mice or data for Etv5.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Etv5em1(IMPC)Ccpcz Exon Deletion Mice
Etv5tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Etv5tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter