Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
taspase, threonine aspartase 1
Synonyms:
4930485D02Rik

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 Tasp1 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 Tasp1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Suleiman-El-Hattab Syndrome
Cryptorchidism OMIM:618950

The table below shows human diseases predicted to be associated to Tasp1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Partial Chromosome Y Deletion
Non-obstructive azoospermia, Decreased testicular size, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility OMIM:619145
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... OMIM:619528
Spermatogenic Failure 32
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... OMIM:617960
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
Isochromosomy Yp
Decreased testicular size, Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Male ... ORPHA:98797
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Isochromosomy Yq
Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropriate for external gen... ORPHA:98798
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:619828
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Spermatogenic Failure 63
Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia OMIM:619689
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... ORPHA:399805
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Spermatogenic Failure 8
Cryptozoospermia, Azoospermia, Oligozoospermia OMIM:613957
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... OMIM:301059
Spermatogenic Failure 65
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... OMIM:619712
Spermatogenic Failure 84
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... OMIM:620409
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... OMIM:620084
Spermatogenic Failure 56
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:619515
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Spermatogenic Failure 39
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... OMIM:618643
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... OMIM:619585
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Spermatogenic Failure 79
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia OMIM:620196
Spermatogenic Failure 1
Cryptozoospermia, Male infertility, Oligozoospermia OMIM:258150
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Spermatogenic Failure 41
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Decreased testicular size, Globozoospermia, Abnormal spermatogenesis... ORPHA:399808
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:612997
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Spermatogenic Failure 77
Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor... OMIM:620103
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... OMIM:619696
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph... OMIM:301101
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 51
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea... OMIM:619177
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Spermatogenic Failure 87
Ruffled acrosome, Male infertility OMIM:620500
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Persistent Mullerian Duct Syndrome, Types I And Ii
Decreased cirrculating antimullerian hormone circulation, Male infertility, Bilateral cryptorchidism OMIM:261550
Spermatogenic Failure 2
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm... OMIM:108420
Spermatogenic Failure 44
Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreased testicular size... OMIM:619044
Spermatogenic Failure 17
Male infertility OMIM:617214
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Spermatogenic Failure 15
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin... OMIM:616950
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Non-o... OMIM:618086
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
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility ORPHA:48
Spermatogenic Failure 38
Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm... OMIM:618433
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
Spermatogenic Failure 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens, Male infertility OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Absent vas deferens, Male infertility OMIM:277180
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper... OMIM:229070
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Delayed... ORPHA:52901
Hypogonadism, Male
Testicular atrophy, Hypospadias, Male hypogonadism, Micropenis OMIM:241100
Spermatogenic Failure 14
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615842
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi... OMIM:612885
Young Syndrome
Azoospermia OMIM:279000
Spermatogenic Failure 24
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile... OMIM:617959
Spondylometaphyseal Dysplasia, Corner Fracture Type
Pectus carinatum, Hypoplasia of the odontoid process, Short femoral neck, Corner fracture of meta... OMIM:184255
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Ciliary Dyskinesia, Primary, 50
Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein arms, Reduced sperm... OMIM:620356
Androgen Insensitivity, Partial
Absent vas deferens, Perineal hypospadias, Bifid scrotum, Hypogonadism, Azoospermia, Cryptorchidi... OMIM:312300
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Pectus carinatum, Finger syndactyly, Radioulnar synostosis, Abnormal rib morphology, Clinodactyly... ORPHA:3268
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 13
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615841
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility ORPHA:3000
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Absence of pubertal development, Cryptorchidism, Hypogona... OMIM:614837
Spermatogenic Failure, X-Linked, 4
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos... OMIM:301077
Heart Defects-Limb Shortening Syndrome
Narrow chest, Abnormal form of the vertebral bodies, Death in infancy, Abnormal rib morphology, A... ORPHA:1354
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Pectus carinatum, Hypoplasia of the capital femoral epiphysis, Metaphyseal scleros... OMIM:609052
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... OMIM:228300
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Microphallus, Decreased testicular size, Absence of pubertal development, Cryptorchidism, Hypogon... OMIM:614840
Primary Basilar Invagination
Abnormal vertebral morphology, Abnormality of the cervical spine, Short neck ORPHA:2285
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Type II diabetes mellitus, Oligozoospermia OMIM:615703
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Decreased testicular size, Azoospermia, Decreased serum ... OMIM:614897
Spondylocostal Dysostosis 3, Autosomal Recessive
Slender finger, Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal j... OMIM:609813
Galactosialidosis
Abnormal vertebral morphology, Abnormality of the vertebral column ORPHA:351
Brachyolmia, Maroteaux Type
Platyspondyly, Abnormal form of the vertebral bodies, Short thorax, Pectus excavatum, Scoliosis ORPHA:93302
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Short neck, Vertebral clefting, Hemivertebrae OMIM:608681
Acromesomelic Dysplasia, Maroteaux Type
Vertebral wedging, Abnormal form of the vertebral bodies, Bowing of the long bones, Beaking of ve... ORPHA:40
Ciliary Dyskinesia, Primary, 51
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo... OMIM:620438
Autosomal Dominant Brachyolmia
Platyspondyly, Increased vertebral height, Kyphoscoliosis, Short thorax, Abnormal metaphysis morp... ORPHA:93304
Stuve-Wiedemann Syndrome 2
Thoracic hypoplasia, Intrauterine growth retardation, Neonatal death, Bowing of the long bones, D... OMIM:619751
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Platyspondyly, Abnormal ilium morphology, Abnormal vertebral morphology, Bilateral coxa valga ORPHA:163665
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Clavicular sclerosis, Diaphyseal... ORPHA:2790
Acropectorovertebral Dysplasia
Abnormal vertebral morphology, Toe syndactyly, Spina bifida occulta at L5, Synostosis of carpal b... OMIM:102510
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Hypergonadotropic hypogonadism OMIM:613724
Kyphomelic Dysplasia
Narrow chest, Abnormal form of the vertebral bodies, Undulate ribs, Missing ribs, Bowing of the l... ORPHA:1801
Adrenal Hypoplasia, Congenital
Precocious puberty, Absence of pubertal development, Azoospermia, Adrenal insufficiency, Primary ... OMIM:300200
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Azoospermia, Infertility, Amenorrhea OMIM:602390
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction ORPHA:481
Metatropic Dysplasia
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace... OMIM:156530
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal vertebral morphology, Attention deficit hyperactivity disorder, Motor stereotypy OMIM:618709
Spondylocostal Dysostosis 1, Autosomal Recessive
Block vertebrae, Abnormal odontoid process morphology, Death in infancy, Vertebral segmentation d... OMIM:277300
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ... ORPHA:90797
Sprengel Deformity
Rib segmentation abnormalities, Sprengel anomaly, Hemivertebrae, Spina bifida occulta, Cervical s... OMIM:184400
Epiphyseal Dysplasia, Multiple, 6
Arthralgia of the hip, Schmorl's node, Irregular epiphyses, Small epiphyses, Flat distal femoral ... OMIM:614135
Autosomal Dominant Spondylocostal Dysostosis
Short thorax, Intrauterine growth retardation, Vertebral segmentation defect, Missing ribs, Short... ORPHA:1797
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism ORPHA:2183
Metaphyseal Chondrodysplasia, Schmid Type
Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,... ORPHA:174
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the radius, Abnormal morphology of ulna, Vertebral segmentation defect, Apl... ORPHA:1570
Thoracolaryngopelvic Dysplasia
Hypoplastic iliac wing, Hypoplastic pelvis, Bell-shaped thorax, Horizontal ribs, Short ribs, Meta... OMIM:187760
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Azoospermia... OMIM:308700
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus ORPHA:2578
Metatropic Dysplasia
Narrow chest, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Coarse metap... ORPHA:2635
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Platyspondyly, Hypoplastic iliac wing, Lumbar hyperlordosis, Enlarged epiphyses of the phalanges ... OMIM:609616
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Absence of secondary sex characteristics, Non-obstructive azoospermia, Azoospe... ORPHA:432
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Coxa vara, Short palm, Flared, irregular rib ends ORPHA:168555
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... ORPHA:983
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Abnormal vertebral morphology, Delayed epiphyseal ossification, Clinodactyly, Genu valgum, Cutane... ORPHA:166024
Spondylocostal Dysostosis 5
Pectus carinatum, Butterfly vertebrae, Low back pain, Missing ribs, Short neck, Supernumerary rib... OMIM:122600
46,Xx Sex Reversal 2
Small scrotum, Elevated circulating luteinizing hormone level, Perineal hypospadias, Bifid scrotu... OMIM:278850
Osteomesopyknosis
Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies, Kyphosis ORPHA:2777
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Abnormal shoulder morphology, Cervical C2/C3 vertebral fusio... ORPHA:2345
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Abnormal vertebral morphology, Short neck ORPHA:2015
Spondylometaphyseal Dysplasia, Axial
Platyspondyly, Narrow chest, Thoracic hypoplasia, Proximal femoral metaphyseal irregularity, Narr... OMIM:602271
Ciliary Dyskinesia, Primary, 40
Infertility, Azoospermia, Patent ductus arteriosus, Absent outer dynein arms OMIM:618300
Mesomelic Dysplasia, Kantaputra Type
Ulnar deviation of finger, Synostosis of carpal bones, Camptodactyly of finger, Dumbbell-shaped h... ORPHA:1836
47,Xyy Syndrome
Varicocele, Azoospermia, Cryptorchidism, Increased serum testosterone level, Oligozoospermia, Inc... ORPHA:8
Osteoarthritis With Mild Chondrodysplasia
Platyspondyly, Schmorl's node, Beaking of vertebral bodies, Heberden's node, Irregular vertebral ... OMIM:604864
Fetal Akinesia Deformation Sequence 4
11 pairs of ribs, Prenatal death, Neonatal death, Short neck, Camptodactyly, Rocker bottom foot, ... OMIM:618393
Thanatophoric Dysplasia, Type Ii
Platyspondyly, Hypoplastic ilia, Small abnormally formed scapulae, Narrow chest, Flared metaphysi... OMIM:187601
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Platyspondyly, Metaphyseal spurs, Posterior rib cupping, Thoracic hypoplasia, Irregular epiphyses... OMIM:608728
Fibrochondrogenesis 2
Platyspondyly, Hypoplastic ilia, Metaphyseal cupping, Thoracic hypoplasia, Bell-shaped thorax, Sh... OMIM:614524
Ghosal Hematodiaphyseal Dysplasia
Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Abnormal tibia mor... ORPHA:1802
Kuskokwim Syndrome
Aplasia/Hypoplasia of the radius, Abnormal clavicle morphology, Abnormal form of the vertebral bo... ORPHA:1149
Septopreoptic Holoprosencephaly
Abnormal vertebral morphology, Ethmoidal encephalocele, Abnormal rib morphology, Dysphagia, Impul... ORPHA:280195
Maternal Uniparental Disomy Of Chromosome X
Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Gonadal tissue inappropriate for... ORPHA:261519
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Abnormality of the cervical spine, Superior rib anomalies OMIM:307500
Hypogonadism-Cataract Syndrome
Hypogonadism, Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone l... OMIM:240950
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Pectus carinatum, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, ... OMIM:271650
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Flat acetabula... ORPHA:168549
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Decreased response to growth hormone stimulation test, Decreased testicular size, Azoospermia, De... ORPHA:280679
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
46,Xx Sex Reversal 1
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Azoospermia, True hermaphro... OMIM:400045
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... ORPHA:90791
Schneckenbecken Dysplasia
Platyspondyly, Hypoplastic scapulae, Advanced ossification of carpal bones, Narrow chest, Thoraci... OMIM:269250
Chondrodysplasia, Blomstrand Type
Abnormal vertebral morphology, Narrow chest, Flared metaphysis, Advanced tarsal ossification, Sho... OMIM:215045
48,Xyyy Syndrome
Male hypogonadism, Primary gonadal insufficiency, Azoospermia ORPHA:99329
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Platyspondyly, Pectus carinatum, Metaphyseal irregularity, Hypoplasia of the odontoid process, Cl... OMIM:184250
Poland Syndrome
Short ribs, Rib fusion, Unilateral oligodactyly, Sprengel anomaly, Hemivertebrae, Unilateral brac... OMIM:173800
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Pectus carinatum, Synostosis of carpal bones, Abnormal epiphysis morphology, Upper... ORPHA:93351
Fibrodysplasia Ossificans Progressiva
Abnormal vertebral morphology, Abnormality of the first metatarsal bone, Aplasia/Hypoplasia of th... ORPHA:337
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Thoracic hemivertebrae, Brachydactyly, Abnormal sacrum morphology, Scoliosis, Short middle phalan... ORPHA:1436
49,Xyyyy Syndrome
Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De... ORPHA:99330
Acrodysplasia Scoliosis
Spina bifida occulta, Scoliosis, Brachydactyly, Vertebral segmentation defect ORPHA:2956
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Pectus carinatum, Multiple rib fractures, Pectus excavatum, Short lower limbs, Sco... OMIM:259440
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Dyggve-Melchior-Clausen Disease
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Short neck, Beaking of ver... ORPHA:239
Diaphanospondylodysostosis
Enlarged thorax, Myelomeningocele, Absent or minimally ossified vertebral bodies, Missing ribs, S... ORPHA:66637
Hemochromatosis, Type 1
Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea, Testicular atrophy, Impotence, Diabetes m... OMIM:235200
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Thin ribs, Radial bowing, Short neck, Flat acetabular roof, Hypoplastic ischia, Ovoid vertebral b... OMIM:151210
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Platyspondyly, Narrow chest, Abnormal epiphysis morphology, Abnormal clavicle morphology, Abnorma... ORPHA:93267
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Juberg-Hayward Syndrome
Abnormal vertebral morphology, Toe syndactyly, Short thumb, Intrauterine growth retardation, Radi... ORPHA:2319
Ring Chromosome 21 Syndrome
Amenorrhea, Azoospermia, Diabetes insipidus, Infertility ORPHA:1445
Diastrophic Dysplasia
Ulnar deviation of finger, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies,... ORPHA:628
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Abnormal hip bone morphology, Short neck, Hyperlordosis, Abnormal r... ORPHA:2522
Spondylometaphyseal Dysplasia, Kozlowski Type
Platyspondyly, Abnormal rib cage morphology, Pectus carinatum, Hypoplasia of the odontoid process... OMIM:184252
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Death in infancy, Vertebral segmentation defect, Short long bone, Short thorax, Vertebral fusion,... OMIM:618845
Glossopharyngeal Neuralgia
Schwannoma, Abnormal glossopharyngeal nerve morphology, Cranial nerve compression ORPHA:221098
Spondyloepimetaphyseal Dysplasia, Missouri Type
Pear-shaped vertebrae, Platyspondyly, Metaphyseal cupping, Radial bowing, Flared metaphysis, Smal... OMIM:602111
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Platyspondyly, Thin ribs, Metaphyseal irregularity, Short femoral neck, Narrow vertebral interped... OMIM:618395
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus OMIM:601076
Thanatophoric Dysplasia, Type I
Platyspondyly, Small abnormally formed scapulae, Hypoplastic ilia, Narrow chest, Thoracic hypopla... OMIM:187600
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
48,Xxyy Syndrome
Decreased testicular size, Azoospermia, Type II diabetes mellitus, Cryptorchidism, Infertility, H... ORPHA:10
Becker Nevus Syndrome
Pectus excavatum, Scoliosis, Hemivertebrae, Cervical ribs OMIM:604919
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Short neck, Abnormal form of the vertebral bodies, Hemivertebrae, Abnormal rib morphology ORPHA:2234
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Cryptorchidism, Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Ambiguous genitalia, H... ORPHA:752
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Abnormal rib morphology,... ORPHA:1988
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Postaxial foot polydactyly, Acetabular spurs, Horizontal ribs, Death in infancy, Sh... OMIM:617405
Autosomal Recessive Spondylocostal Dysostosis
Abnormal form of the vertebral bodies, Finger syndactyly, Umbilical hernia, Camptodactyly of fing... ORPHA:2311
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Tarsal synostosis, Posterior fusion of lumbosacral vertebrae, Abnormal form of the vertebral bodi... ORPHA:2064
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Platyspondyly, Thin ribs, Metaphyseal cupping of metacarpals, Metaphyseal cupping, Hypoplastic il... OMIM:300863
Nevus Comedonicus Syndrome
Abnormal vertebral morphology, Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Spina bif... ORPHA:64754
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Short neck, Sprengel anomaly, Scoliosis, Fused cervical vertebrae OMIM:214300
Spondylocostal Dysostosis 4, Autosomal Recessive
Block vertebrae, Myelomeningocele, Abnormal odontoid process morphology, Bell-shaped thorax, Vert... OMIM:613686
Holt-Oram Syndrome
Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent thumb, Abnormal clavicle... ORPHA:392
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Azoospermia OMIM:615234
Lethal Congenital Contracture Syndrome Type 1
Slender long bone, Abnormal form of the vertebral bodies, Abnormal hip bone morphology, Short nec... ORPHA:1486
Pseudoachondroplasia
Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra... OMIM:177170
Osteogenesis Imperfecta, Type Xv
Platyspondyly, Scoliosis, Thin ribs OMIM:615220
Dyggve-Melchior-Clausen Disease
Hypoplastic scapulae, Hypoplasia of the odontoid process, Hypoplastic iliac wing, Genu valgum, Ba... OMIM:223800
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Short neck, Sprengel anomaly, Abnormal limb bone morphology, Abn... OMIM:118100
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal form of the vertebral bodies, Sandal gap, Sprengel anomaly, Brachydactyly, Hemivertebrae... ORPHA:2180
Lethal Congenital Contracture Syndrome 1
Widening of cervical spinal canal, Abnormal thorax morphology, Neonatal death OMIM:253310
Becker Nevus Syndrome
Pectus carinatum, Abnormal tibia morphology, Rib fusion, Supernumerary ribs, Pectus excavatum, Sp... ORPHA:64755
Weismann-Netter Syndrome
Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Abnormal tibia morpholog... ORPHA:3344
Benign Schwannoma
Peripheral schwannoma, Schwannoma, Vestibular schwannoma, Abnormal cranial nerve morphology, Scle... ORPHA:252164
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Platyspondyly, Thin ribs, Metaphyseal cupping of metacarpals, Abnormality of the calcaneus, Hypop... ORPHA:163966
Mucopolysaccharidosis, Type Iva
Cervical myelopathy, Platyspondyly, Constricted iliac wing, Hypoplasia of the odontoid process, P... OMIM:253000
Spondyloepimetaphyseal Dysplasia, Shohat Type
Abnormal vertebral morphology, Platyspondyly, Delayed epiphyseal ossification, Metaphyseal irregu... ORPHA:93352
3M Syndrome
Thin ribs, Congenital hip dislocation, Rocker bottom foot, Slender long bone, Short thorax, Intra... ORPHA:2616
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,... ORPHA:99429
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Elevated circulating luteinizing hormone level, Decreased response to growth hormone stimulation ... OMIM:300845
Endosteal Hyperostosis, Autosomal Dominant
Sclerotic vertebral body, Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone ... OMIM:144750
Phaver Syndrome
Ulnar deviation of finger, Broad thumb, Abnormal form of the vertebral bodies, Short thumb, Campt... ORPHA:2876
Christian Syndrome
Fused cervical vertebrae, Scoliosis, Short middle phalanx of finger, Thoracic hemivertebrae OMIM:309620
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Absence of se... ORPHA:2232
Fibrochondrogenesis 1
Thin ribs, Hypoplastic scapulae, Small hand, Broad long bones, Short neck, Broad ischia, Anterior... OMIM:228520
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Intrauterine growth retardation, Tibial bowing, Lower limb undergrowth, Bowing of ... ORPHA:3035
Sillence Syndrome
Abnormal vertebral morphology, Broad thumb, Intervertebral disk degeneration, Flat acetabular roo... ORPHA:3168
Achondrogenesis, Type Ii
Broad long bones, Short tubular bones of the hand, Hypoplastic iliac wing, Absent vertebral body ... OMIM:200610
Spondylometaphyseal Dysplasia, Algerian Type
Platyspondyly, Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral met... OMIM:184253
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Vacterl Association With Hydrocephalus
Abnormal vertebral morphology, Absent thumb, Abnormality of the vertebral column, Radial club han... OMIM:276950
Familial Glucocorticoid Deficiency
Precocious puberty, Leydig cell neoplasia, Abnormal circulating adrenocorticotropin concentration... ORPHA:361
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Arachnodactyly, Missing ribs, Hemivertebrae, Abnormal rib ... ORPHA:2759
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Short thumb, Preaxial hand polydactyly, Abnormal thumb morphology... ORPHA:1120
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormal vertebral morphology, Platyspondyly, Aplasia/hypoplasia involving bones of the extremiti... ORPHA:93346
Laryngotracheoesophageal Cleft Type 4
Abnormal form of the vertebral bodies, Abnormal rib morphology ORPHA:93941
Mosaic Trisomy 14
Narrow chest, Short neck, Abnormal rib morphology, Camptodactyly of finger ORPHA:1703
Fibrochondrogenesis
Hypoplastic scapulae, Narrow chest, Abnormal form of the vertebral bodies, Abnormal diaphysis mor... ORPHA:2021
Cole-Carpenter Syndrome
Abnormal form of the vertebral bodies, Intrauterine growth retardation, Abnormal metaphysis morph... ORPHA:2050
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Genu valgum, Carpal bone hypoplasia, Broad phalanx, Metaphyseal dysplasia, Short foot, Genu varum... OMIM:250420
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... ORPHA:90793
Mucopolysaccharidosis Type 4
Platyspondyly, Pectus carinatum, Abnormal epiphysis morphology, Short thorax, Spinal canal stenos... ORPHA:582
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ... ORPHA:1772
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona... OMIM:308750
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of fingers, Pectus carinatum, Toe syndactyly, Abnormal epiphysis morphology, A... ORPHA:3082
Functioning Gonadotropic Adenoma
Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f... ORPHA:91348
Melnick-Needles Syndrome
Anisospondyly, Hip dislocation, Short distal phalanx of finger, Narrow chest, Short thorax, Abnor... ORPHA:2484
Mucopolysaccharidosis, Type X
Platyspondyly, Broad clavicles, Irregular acetabular roof, Broad ribs, Genu valgum, Spatulate rib... OMIM:619698
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Platyspondyly, Thin ribs, Metaphyseal cupping of metacarpals, Hypoplasia of the odontoid process,... OMIM:300232
White Forelock With Malformations
Finger syndactyly, Clinodactyly of the 5th finger, Sprengel anomaly, Abnormal rib morphology, Spi... ORPHA:2475
Osteogenesis Imperfecta, Type Ii
Platyspondyly, Thin ribs, Abnormal pelvic girdle bone morphology, Thoracic hypoplasia, Broad long... OMIM:166210
Achondrogenesis, Type Ia
Unossified vertebral bodies, Hypoplastic scapulae, Broad clavicles, Narrow chest, Hypoplastic sac... OMIM:200600
48,Xxxy Syndrome
Small scrotum, Hypogonadism, Decreased testicular size, Azoospermia, Type II diabetes mellitus, C... ORPHA:96263
Jeune Syndrome
Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Cone-shaped e... ORPHA:474
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Short neck, Fused thoracic vertebrae, Tarsal synostosis, Absent phalangeal crease, Scoliosis, Fus... OMIM:618469
Achondrogenesis Type 1B
Narrow chest, Abnormal rib morphology, Umbilical hernia, Short neck, Short thorax, Short foot ORPHA:93298
17Q12 Microduplication Syndrome
Abnormal vertebral morphology, Self-injurious behavior, Toe syndactyly, Finger syndactyly ORPHA:261272
Atelosteogenesis, Type I
Radial bowing, Fibular aplasia, Bell-shaped thorax, Encephalocele, Neonatal death, Short neck, Ap... OMIM:108720
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Mucopolysaccharidosis, Type Iiia
Umbilical hernia, Thickened ribs, Ovoid thoracolumbar vertebrae, Hyperactivity, Scoliosis OMIM:252900
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypogonadism, Adrenal insufficiency, Azoospermia, Hypothyroidism, Abnormality of the hypothalamus... ORPHA:300298
Ciliary Dyskinesia, Primary, 34
Immotile sperm, Male infertility, Absent central microtubular pair morphology of respiratory moti... OMIM:617091
49,Xxxxy Syndrome
Small scrotum, Hypogonadism, Decreased testicular size, Azoospermia, Type II diabetes mellitus, C... ORPHA:96264
Bilateral Polymicrogyria
Facial diplegia, Abnormal glossopharyngeal nerve morphology ORPHA:268940
Acro-Renal-Mandibular Syndrome
Thin ribs, Pectus carinatum, Hypoplastic scapulae, Hip dislocation, Abnormal clavicle morphology,... ORPHA:958
Mucopolysaccharidosis, Type Iiib
Aggressive behavior, Ovoid thoracolumbar vertebrae, Thickened ribs, Hyperactivity OMIM:252920
Tick-Borne Encephalitis
Abnormal cranial nerve morphology, Abnormal glossopharyngeal nerve morphology, Abnormal autonomic... ORPHA:297
Mucopolysaccharidosis, Type Iiic
Kyphoscoliosis, Ovoid thoracolumbar vertebrae, Beaking of vertebral bodies, Dysphagia, Hyperactiv... OMIM:252930
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
8P11.2 Deletion Syndrome
Abnormality of the hypothalamus-pituitary axis, Hypogonadism, Azoospermia, Cryptorchidism, Hypogo... ORPHA:251066
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Cooper-Jabs Syndrome
Camptodactyly of finger, Umbilical hernia, Abnormal hip bone morphology, Missing ribs, Abnormal r... ORPHA:1488
Lethal Kniest-Like Dysplasia
Platyspondyly, Hypoplastic ilia, Narrow chest, Flared metaphysis, Broad long bones, Short ribs, H... ORPHA:2347
Osteogenesis Imperfecta, Type Xviii
Thin ribs, Umbilical hernia, Femoral bowing, Biconcave vertebral bodies, Bowing of the long bones... OMIM:617952
Mucopolysaccharidosis, Type Ivb
Cervical myelopathy, Platyspondyly, Constricted iliac wing, Hypoplasia of the odontoid process, H... OMIM:253010
Otospondylomegaepiphyseal Dysplasia
Abnormal vertebral morphology, Platyspondyly, Epiphyseal dysplasia, Dumbbell-shaped femur, Sandal... ORPHA:1427
Three M Syndrome 2
Thin ribs, Short 5th finger, Pectus carinatum, Clinodactyly, Slender long bone, Intrauterine grow... OMIM:612921
Greenberg Dysplasia
Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Large pl... OMIM:215140
Achondrogenesis Type 1A
Narrow chest, Umbilical hernia, Multiple rib fractures, Short neck, Short thorax, Short foot, Sho... ORPHA:93299
Garg-Mishra Progeroid Syndrome
Platyspondyly, Thin ribs, Narrow chest, Slender long bone, Slender metacarpals, Coxa valga, Ovoid... OMIM:620601
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Thin ribs, Short distal phalanx of finger, Short 5th finger, Triangular shaped distal phalanges o... ORPHA:73230
Holzgreve Syndrome
Intrauterine growth retardation, Abnormal morphology of ulna, Hand polydactyly, Abnormal metacarp... ORPHA:2167
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie... OMIM:618019
Acromesomelic Dysplasia 4
Radial bowing, Prominent deltoid tuberosities, Genu valgum, Beaking of vertebral bodies, Broad to... OMIM:619636
Brachytelephalangic Chondrodysplasia Punctata
Hypoplastic cervical vertebrae, Abnormality of the costochondral junction, Stippling of the epiph... ORPHA:79345
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Platyspondyly, Ivory epiphyses, Hypoplastic ilia, Metaphyseal irregularity, Abnormal epiphysis mo... ORPHA:85167
Bent Bone Dysplasia Syndrome 2
Platyspondyly, Thin ribs, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic ... OMIM:620076
Sacral Agenesis With Vertebral Anomalies
Abnormal vertebral morphology, Absence of the sacrum, Vertebral clefting, Neonatal death OMIM:615709
Campomelia, Cumming Type
Clubbing of toes, Abnormal thorax morphology, Death in infancy, Bowing of the long bones, Brachyd... ORPHA:1318
Dysosteosclerosis
Platyspondyly, Short diaphyses, Narrow chest, Broad femoral neck, Flared metaphysis, Broad ribs, ... OMIM:224300
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal vertebral morphology, Clinodactyly, Hypoplastic iliac wing, Genu valgum, Corner fracture... ORPHA:93315
Osteogenesis Imperfecta, Type X
Platyspondyly, Thin ribs, Narrow chest, Thoracic hypoplasia, Broad ribs, Genu valgum, Fibular bow... OMIM:613848
Dyssegmental Dysplasia, Silverman-Handmaker Type
Anisospondyly, Occipital encephalocele, Thoracic hypoplasia, Neonatal death, Bowing of the long b... OMIM:224410
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Finger syndactyly, Tibial torsion, Cervical ribs, Fibular aplasia, Aplasia/hypoplasi... ORPHA:3320
Gm1-Gangliosidosis, Type I
Intrauterine growth retardation, Thickened ribs, Death in infancy, Hypoplastic vertebral bodies, ... OMIM:230500
Osteogenesis Imperfecta, Type Iii
Thin ribs, Slender long bone, Biconcave vertebral bodies, Tibial bowing, Scoliosis, Kyphosis, Pro... OMIM:259420
Cenani-Lenz Syndrome
Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Abnormal form of the vertebral bod... ORPHA:3258
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Narrow chest, Thoracic dysplasia, Bell-shaped thorax, Horizontal ribs, Postaxial polydactyly, Bra... OMIM:615633
Craniodiaphyseal Dysplasia
Diaphyseal undertubulation, Abnormal rib morphology ORPHA:1513
Ring Chromosome 22 Syndrome
Azoospermia ORPHA:1446
Osteogenesis Imperfecta, Type Xvi
Platyspondyly, Narrow chest, Bowing of the long bones, Multiple rib fractures, Angulated humerus,... OMIM:616229
Cantú Syndrome
Platyspondyly, Short distal phalanx of finger, Narrow chest, Finger syndactyly, Umbilical hernia,... ORPHA:1517
Mucopolysaccharidosis Type 6
Epiphyseal dysplasia, Broad ribs, Genu valgum, Short neck, Abnormal metaphysis morphology, Kyphos... ORPHA:583
Classic Galactosemia
Cryptorchidism, Decreased fertility in females, Oligomenorrhea, Decreased serum insulin-like grow... ORPHA:79239
Multiple Pterygium Syndrome, X-Linked
Thin ribs, Short finger, Intrauterine growth retardation, Vertebral fusion, Abnormal cervical cur... OMIM:312150
Prune Belly Syndrome
Congenital hip dislocation, Vertebral segmentation defect, Abnormal rib morphology, Pectus excava... ORPHA:2970
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Absent inner dynein arms, Immotile sperm, Male infertility OMIM:614874
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Broad femoral neck, Abnormal diaphysis morphology, Overtubulated long bones, Short tubular bones ... ORPHA:85184
Poland Syndrome
Small hand, Finger syndactyly, Aplasia/Hypoplasia of the sternum, Encephalocele, Aplasia/Hypoplas... ORPHA:2911
Spondylometaphyseal Dysplasia, Sedaghatian Type
Delayed epiphyseal ossification, Widened greater sciatic notch, Short neck, Horizontal inferior b... OMIM:250220
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility ORPHA:2239
Axial Mesodermal Dysplasia Spectrum
Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Vertebral segmenta... ORPHA:1834
Spondylometaphyseal Dysplasia, Sedaghatian Type
Platyspondyly, Narrow chest, Cone-shaped epiphysis, Abnormal scapula morphology, Iliac crest serr... ORPHA:93317
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ... OMIM:300106
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal pelvic girdle bone morphology, Intrauterine growth retardation, Slender long bone, Abnor... ORPHA:1506
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Platyspondyly, Metaphyseal irregularity, Metaphyseal cupping, Flared metaphysis, Short finger, Fe... OMIM:608940
Cerebrofaciothoracic Dysplasia
Narrow chest, Vertebral segmentation defect, Rib fusion, Short neck, Sprengel anomaly, Hemiverteb... ORPHA:1394
Cleidocranial Dysplasia
Hypoplastic scapulae, Abnormal pelvic girdle bone morphology, Hypoplastic inferior ilia, Abnormal... ORPHA:1452
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Foot polydactyly, Phocomelia, Split hand, Vertebral segmentation defect ORPHA:3004
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Abnormal vertebral morphology, Abnormality of the vertebral column, Short humerus, Neonatal death... OMIM:314390
Phosphoribosylaminoimidazole Carboxylase Deficiency
Lumbar hemivertebrae, Neonatal death, Missing ribs, Short neck, Clinodactyly of the 5th finger OMIM:619859
Multiple Pterygium Syndrome, Lethal Type
Thin ribs, Short finger, Intrauterine growth retardation, Vertebral fusion, Abnormal cervical cur... OMIM:253290
Kyphomelic Dysplasia
Platyspondyly, Radial bowing, Flared metaphysis, Thoracic hypoplasia, Lateral clavicle hook, Dumb... OMIM:211350
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Thin ribs, Block vertebrae, Supernumerary vertebrae, Short ribs, Missing ribs, Rib fusion, Short ... OMIM:271520
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Cartilage-Hair Hypoplasia
Small hand, Bowing of the long bones, Short neck, Diaphyseal undertubulation, Metaphyseal dysplas... ORPHA:175
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Pectus carinatum, Abnormal hip bone morphology, Hyperlordosis, Abnormal rib morphology, Clinodact... ORPHA:3068
Ciliary Dyskinesia, Primary, 9
Absent outer dynein arms, Male infertility OMIM:612444
H Syndrome
Hypogonadism, Decreased testicular size, Azoospermia, Amenorrhea, Delayed puberty, Micropenis, Di... ORPHA:168569
Aromatase Deficiency
Female infertility, Male infertility, Ambiguous genitalia, female, Female pseudohermaphroditism, ... ORPHA:91
Gorlin Syndrome
Abnormal vertebral morphology, Vertebral wedging, Abnormal rib morphology, Arachnodactyly, Rib fu... ORPHA:377
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Immotile sperm, Absent inner dynein a... OMIM:613807
Pontine Tegmental Cap Dysplasia
Rib fusion, Scoliosis, Dysphagia, Hemivertebrae OMIM:614688
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cone-shaped epiphysis, Metaphyseal spurs, Thoracic hypoplasia, Preaxial polydactyly, Acetabular s... OMIM:613091
Osteogenesis Imperfecta, Type Viii
Platyspondyly, Thin ribs, Radial bowing, Slender long bone, Femoral bowing, Tibial bowing, Barrel... OMIM:610915
Alagille Syndrome
Short distal phalanx of finger, Abnormal form of the vertebral bodies, Intrauterine growth retard... ORPHA:52
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Bifid femur, Abnormal form of the vertebral bodies, Abnormal rib morphology, M... ORPHA:2769
Mucolipidosis Iii Alpha/Beta
Shallow acetabular fossae, Broad ribs, Irregular carpal bones, Spondylolisthesis, Short ribs, Car... OMIM:252600
Pituitary Dermoid And Epidermoid Cysts
Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Amenorrhea, Hype... ORPHA:91351
Cole-Carpenter Syndrome 2
Platyspondyly, Thin ribs, Narrow iliac wing, Pectus excavatum, Kyphosis OMIM:616294
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Short neck, Hypoplastic ilia... OMIM:271640
Grant Syndrome
Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Narrow chest, Bowing of... ORPHA:2097
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Hypoplasia of the odontoid process, Broad long bones, Bell-shaped thorax, Short neck, Anterior ri... OMIM:271665
Trisomy 13
Abnormal pelvic girdle bone morphology, Narrow chest, Abnormal rib morphology, Ectrodactyly, Intr... ORPHA:3378
Cat-Eye Syndrome
Intrauterine growth retardation, Hip dysplasia, Abnormal rib morphology ORPHA:195
Microcephalic Primordial Dwarfism, Toriello Type
Intrauterine growth retardation, Abnormal epiphysis morphology, Brachydactyly, Abnormal rib morph... ORPHA:2643
Acrorenal-Mandibular Syndrome
Thin ribs, Hypoplastic scapulae, Toe syndactyly, Narrow chest, Abnormal sacral segmentation, Rudi... OMIM:200980
Pyknoachondrogenesis
Unossified sacrum, Short iliac bones, Horizontal ribs, Poorly ossified vertebrae, Short ribs, Apl... ORPHA:3003
Basal Cell Nevus Syndrome 1
Short distal phalanx of the thumb, Vertebral wedging, Abnormal sternum morphology, Kyphoscoliosis... OMIM:109400
Frontometaphyseal Dysplasia 1
Partial fusion of tarsals, Broad phalanges of the hand, Interphalangeal joint contracture of fing... OMIM:305620
Microcephaly-Micromelia Syndrome
Narrow chest, Absent thumb, Short tibia, Oligodactyly, Intrauterine growth retardation, Humerorad... OMIM:251230
Orofaciodigital Syndrome Iii
Postaxial foot polydactyly, Short sternum, Postaxial hand polydactyly, Pectus excavatum, Kyphosis OMIM:258850
Bloom Syndrome
Azoospermia, Decreased fertility in females, Type II diabetes mellitus, Cryptorchidism OMIM:210900
Radio-Renal Syndrome
Abnormal form of the vertebral bodies, Short neck, Hypoplasia of the radius, Brachydactyly, Abnor... ORPHA:3015
Vacterl/Vater Association
Aplasia/Hypoplasia of the radius, Occipital encephalocele, Finger syndactyly, Preaxial hand polyd... ORPHA:887
Proximal 16P11.2 Microdeletion Syndrome
Abnormal vertebral morphology, Rib fusion, Hand polydactyly, Attention deficit hyperactivity diso... ORPHA:261197
Mosaic Trisomy 8
Narrow chest, Camptodactyly of finger, Patellar aplasia, Vertebral segmentation defect, Short nec... ORPHA:96061
Mucopolysaccharidosis, Type Vi
Cervical myelopathy, Epiphyseal dysplasia, Pectus carinatum, Hypoplasia of the odontoid process, ... OMIM:253200
Hurler Syndrome
Abnormal vertebral morphology, Abnormal epiphysis morphology, Abnormal clavicle morphology, Abnor... ORPHA:93473
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Sclerosteosis 1
Broad clavicles, Abnormal pelvic girdle bone morphology, Deviation of finger, Broad ribs, Sclerot... OMIM:269500
X-Linked Hypophosphatemia
Flattening of the talar dome, Shortening of the talar neck, Rachitic rosary, Abnormal epiphysis m... ORPHA:89936
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Broad ribs, Flaring of rib cage, Fused cervical vertebrae OMIM:612852
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... ORPHA:786
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Abnormal rib morphology ORPHA:276422
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology OMIM:602196
Kbg Syndrome
Radial deviation of finger, Cervical ribs, Ulnar deviation of the 2nd finger, Clinodactyly of the... OMIM:148050
Meier-Gorlin Syndrome 1
Thin ribs, Small hand, Cutaneous finger syndactyly, Genu valgum, Patellar aplasia, Aplasia/Hypopl... OMIM:224690
Tetraamelia-Multiple Malformations Syndrome
Missing ribs, Abnormal rib morphology, Abnormally ossified vertebrae, Aplasia/Hypoplasia involvin... ORPHA:3301
Craniometadiaphyseal Dysplasia
Flared metaphysis, Broad long bones, Broad ribs, Genu valgum, Scoliosis, Genu varum, Coxa valga OMIM:269300
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal peripheral myelination, Abnormal peripheral nerve morphology by anatomical site, Abnorma... ORPHA:168563
Arnold-Chiari Malformation Type I
Abnormality of the twelfth cranial nerve, Abnormality of the eleventh cranial nerve, Abnormality ... ORPHA:268882
Lethal Congenital Contracture Syndrome 10
Narrow chest, Broad ribs, Intrauterine growth retardation, Femoral bowing, Overlapping fingers, T... OMIM:617022
Otopalatodigital Syndrome Type 2
Narrow chest, Synostosis of carpal bones, Short thumb, Carpal synostosis, Myelomeningocele, Preax... ORPHA:90652
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased serum testosterone concentration, Decreased libido, Hypogonadotropic hypogonadism, Amen... ORPHA:465508
Histiocytosis-Lymphadenopathy Plus Syndrome
Type I diabetes mellitus, Pancreatic hypoplasia, Decreased response to growth hormone stimulation... OMIM:602782
Ciliary Dyskinesia, Primary, 19
Male infertility, Absent inner and outer dynein arms OMIM:614935
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Platyspondyly, Polysyndactyly of hallux, Pectus carinatum, Narrow chest, Postaxial polysyndactyly... OMIM:263520
Schwartz-Jampel Syndrome
Genu valgum, Hip contracture, Bowing of the long bones, Short neck, Sprengel anomaly, Protrusio a... ORPHA:800
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Intrauterine growth retardation, Brachydactyly, Split hand, Abnormal rib morph... ORPHA:2145
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Narrow chest, Short toe, Short finger, Thoracic dysplasia, Intrauterine gro... OMIM:269860
Multiple Pterygium Syndrome, Escobar Variant
Hip dislocation, Ulnar deviation of finger, Anterior clefting of vertebral bodies, Umbilical hern... OMIM:265000
Steinfeld Syndrome
Abnormal vertebral morphology, Abnormality of the vertebral column, Missing ribs, Aplasia/Hypopla... OMIM:184705
Aspergillosis
Abnormal long bone morphology, Abnormality of the vertebral column, Abnormal rib morphology ORPHA:1163
Multiple Pterygium-Malignant Hyperthermia Syndrome
Ulnar deviation of finger, Finger syndactyly, Camptodactyly of finger, Arachnodactyly, Metatarsus... ORPHA:2215
Bloom Syndrome
Azoospermia, Oligozoospermia, Premature ovarian insufficiency, Diabetes mellitus, Male infertility ORPHA:125
Osteogenesis Imperfecta, Type Vii
Narrow chest, Crumpled long bones, Death in infancy, Multiple rib fractures, Femoral retroversion... OMIM:610682
Autosomal Dominant Popliteal Pterygium Syndrome
Toe syndactyly, Finger syndactyly, Split hand, Abnormal rib morphology, Scoliosis ORPHA:1300
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ba... OMIM:276820
Renpenning Syndrome
Abnormal thumb morphology, Sprengel anomaly, Abnormal rib morphology, Clinodactyly of the 5th fin... ORPHA:3242
Fanconi Anemia
Abnormality of the hypothalamus-pituitary axis, Abnormality of the uterus, Hypogonadism, Azoosper... ORPHA:84
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Intrauterine growth retardation, Abnormal rib morphology ORPHA:2772
Monosomy 9Q22.3
Abnormality of the vertebral column, Umbilical hernia, Polydactyly, Short neck, Hyperactivity, Ab... ORPHA:77301
Campomelic Dysplasia
Thin ribs, Delayed epiphyseal ossification, Hypoplastic scapulae, Hypoplastic cervical vertebrae,... OMIM:114290
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow chest, Short tibia, Preaxial polydactyly, Horizontal ribs, Long thorax, Fibular hypoplasia... OMIM:617925
Hypophosphatasia
Bowing of the long bones, Narrow chest, Abnormal metaphysis morphology, Abnormal rib morphology ORPHA:436
Hereditary Amyloidosis With Primary Renal Involvement
Hypogonadism, Oligozoospermia, Abnormal testis morphology, Primary testicular failure, Male infer... ORPHA:85450
Van Den Ende-Gupta Syndrome
Thin ribs, Hypoplastic scapulae, Long metacarpals, Long hallux, Arachnodactyly, Dislocated radial... OMIM:600920
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Decreased serum testost... OMIM:305400
Kagami-Ogata Syndrome
Thoracic hypoplasia, Large placenta, Bell-shaped thorax, Kyphoscoliosis, Short neck, Dysphagia, C... ORPHA:254519
Myhre Syndrome
Platyspondyly, Abnormal epiphysis morphology, Intrauterine growth retardation, Abnormal pubic bon... ORPHA:2588
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Abnormal peripheral nerve morphology by anatomical site, Abnormal sensory nerve conduction veloci... ORPHA:88628
Wolfram Syndrome 1
Testicular atrophy, Hypothyroidism, Diabetes mellitus, Diabetes insipidus OMIM:222300
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Abnormal rib morphology, Abnormal tibia morphology, Abnormal pelvis... ORPHA:249
Osteogenesis Imperfecta
Thin ribs, Abnormal tibia morphology, Enlarged vertebral pedicles, Genu valgum, Bowing of the lon... ORPHA:666
Vater/Vacterl Association
Abnormal vertebral morphology, Occipital encephalocele, Short thumb, Abnormal rib morphology, Pre... OMIM:192350
Occipital Horn Syndrome
Platyspondyly, Pectus carinatum, Broad clavicles, Narrow chest, Broad ribs, Genu valgum, Short hu... OMIM:304150
Camptodactyly Syndrome, Guadalajara Type 3
Small hand, Broad femoral neck, Thickened cortex of long bones, Short neck, Abnormal rib morpholo... ORPHA:488434
Cog1-Cdg
Posterior rib gap, Butterfly vertebrae, Kyphoscoliosis, Vertebral segmentation defect, Rib fusion... ORPHA:263508
Microphthalmia, Syndromic 3
Butterfly vertebrae, Missing ribs, Supernumerary ribs, Rib fusion, Hemivertebrae, Vertebral fusio... OMIM:206900
Mucopolysaccharidosis Type 3
Abnormal temper tantrums, Abnormal clavicle morphology, Abnormal form of the vertebral bodies, Ab... ORPHA:581
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal vertebral morphology, Hypoplastic scapulae, Clinodactyly, Humeroradial synostosis, Arach... ORPHA:95699
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum, Supraumbilical raphe OMIM:140850
Femoral-Facial Syndrome
Toe syndactyly, Encephalocele, Humeroradial synostosis, Radioulnar synostosis, Sprengel anomaly, ... OMIM:134780
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Secondary amenorrhea, Hy... OMIM:157640
Ulbright-Hodes Syndrome
Thin ribs, Abnormal forearm bone morphology, Abnormal rib morphology, Fibular aplasia, Humeroradi... ORPHA:3404
Simpson-Golabi-Behmel Syndrome
Congenital hip dislocation, Toe syndactyly, Broad thumb, Finger syndactyly, Short toe, Umbilical ... ORPHA:373
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Craniotubular Dysplasia, Ikegawa Type
Platyspondyly, Broad femoral neck, Broad ribs, Increased intervertebral space, Diaphyseal dysplas... OMIM:619727
Cerebrocostomandibular Syndrome
Posterior rib gap, Congenital hip dislocation, Thoracic hypoplasia, Rib gap, Anomalous rib insert... OMIM:117650
Coffin-Lowry Syndrome
Pectus carinatum, Bifid sternum, Kyphosis, Lumbar kyphosis, Tapered finger, Drumstick terminal ph... OMIM:303600
Fanconi Anemia, Complementation Group A
Cryptorchidism, Hypergonadotropic hypogonadism, Male infertility OMIM:227650
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormal sternum morphology, Broad ribs, Short ribs, Abnormal rib morphology, Postaxial hand poly... ORPHA:2519
Oculocerebrocutaneous Syndrome
Short distal phalanx of finger, Congenital hip dislocation, Finger syndactyly, Missing ribs, Hand... ORPHA:1647
Smith-Lemli-Opitz Syndrome
Self-injurious behavior, Hip dislocation, Aplasia/Hypoplasia of the radius, Postaxial foot polyda... ORPHA:818
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Hyp... ORPHA:534
Antley-Bixler Syndrome
Narrow chest, Camptodactyly of finger, Femoral bowing, Arachnodactyly, Abnormal rib morphology, N... ORPHA:83
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Craniorachischisis
Bifid sternum, Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly ORPHA:63260
Primary Ciliary Dyskinesia
Abnormal sperm motility, Female infertility, Male infertility ORPHA:244
Trisomy 1Q
Toe syndactyly, Short thorax, Camptodactyly of finger, Preaxial hand polydactyly, Arachnodactyly,... ORPHA:261344
Ciliary Dyskinesia, Primary, 1
Absent outer dynein arms, Male infertility OMIM:244400
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Azoospermia, Delayed puberty, Cholelithiasis ORPHA:2072
Monosomy 9P
Abnormality of the vertebral column, Abnormal rib morphology, Abnormality of the tarsal bones, Sh... ORPHA:261112
Charge Syndrome
Bifid femur, Umbilical hernia, Abnormal tibia morphology, Intrauterine growth retardation, Polyda... ORPHA:138
Alagille Syndrome 1
Short distal phalanx of finger, Butterfly vertebral arch, Hypoplasia of the ulna, Hemivertebrae, ... OMIM:118450
Fraser Syndrome
Toe syndactyly, Finger syndactyly, Umbilical hernia, Myelomeningocele, Wide pubic symphysis, Ence... ORPHA:2052
X-Linked Intellectual Disability, Snyder Type
Testicular atrophy, Abnormality of the Leydig cells, Hypospadias, Cryptorchidism ORPHA:3063
Trisomy 18
Deviation of finger, Abnormal rib morphology, Camptodactyly of finger, Intrauterine growth retard... ORPHA:3380
Townes-Brocks Syndrome
Abnormal vertebral morphology, Toe clinodactyly, Ulnar deviation of finger, Toe syndactyly, Broad... ORPHA:857
Steinert Myotonic Dystrophy
Male hypogonadism, Cholelithiasis, Decreased response to growth hormone stimulation test, Decreas... ORPHA:273
Ear-Patella-Short Stature Syndrome
Aplastic clavicle, Abnormal epiphysis morphology, Slender long bone, Camptodactyly of finger, Int... ORPHA:2554
Cystic Fibrosis
Absent vas deferens, Male infertility ORPHA:586
Charge Syndrome
Bifid femur, Short thumb, Hand monodactyly, Umbilical hernia, Absent radius, Self-mutilation, Dow... OMIM:214800
Pagod Syndrome
Abnormal clavicle morphology, Encephalocele, Death in infancy, Spina bifida, Abnormal rib morphol... ORPHA:991
Dextrocardia
Congenital hip dislocation, Abnormal rib morphology ORPHA:1666
Hereditary Acrokeratotic Poikiloderma
Finger syndactyly, Camptodactyly of finger, Abnormal hip bone morphology, Abnormal metacarpal mor... ORPHA:2907
Noonan Syndrome 1
Hypogonadism, Cryptorchidism, Hypospadias, Patent ductus arteriosus, Male infertility OMIM:163950
Kindler Epidermolysis Bullosa
Finger syndactyly, Camptodactyly of finger, Short 5th metacarpal, Short 4th metacarpal, Abnormal ... ORPHA:2908
Cystic Fibrosis
Male infertility OMIM:219700
Autosomal Recessive Malignant Osteopetrosis
Narrow chest, Abnormal epiphysis morphology, Bowing of the long bones, Abnormal rib morphology, A... ORPHA:667
Suleiman-El-Hattab Syndrome
Cryptorchidism OMIM:618950

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 Tasp1

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 Tasp1.

No publications found that use IMPC mice or data for Tasp1.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Tasp1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Tasp1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Tasp1tm301248(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Tasp1tm35250(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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