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
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Non-obstructive a... OMIM:619528
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Azoospermia OMIM:619145
Partial Chromosome Y Deletion
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi... ORPHA:1646
Isochromosomy Yp
Azoospermia, Ambiguous genitalia, Male infertility, Primary gonadal insufficiency, Decreased test... ORPHA:98797
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Spermatogenic Failure 48
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Spermatogenic Failure 25
Azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Isochromosomy Yq
Azoospermia, Varicocele, Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia... ORPHA:98798
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Azoospermia, Hypogonadism, Primary amenorrhea, Decreased testicular size OMIM:229070
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermato... ORPHA:399805
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Spermatogenic Failure 8
Oligospermia, Azoospermia, Cryptozoospermia OMIM:613957
Spermatogenic Failure 46
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... OMIM:619095
Spermatogenic Failure 5
Functional abnormality of male internal genitalia, Male infertility OMIM:243060
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... OMIM:618751
Spermatogenic Failure 49
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619094
Spermatogenic Failure, X-Linked, 3
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:301059
Spermatogenic Failure 2
Oligospermia, Azoospermia OMIM:108420
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Spermatogenic Failure 56
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:619515
Spermatogenic Failure 54
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... OMIM:619379
Spermatogenic Failure 40
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... OMIM:618664
Spermatogenic Failure 39
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618643
Spermatogenic Failure 47
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella OMIM:619102
Spermatogenic Failure 58
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... OMIM:619585
Spermatogenic Failure 11
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility OMIM:615081
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Spermatogenic Failure 42
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... OMIM:618745
Male Infertility Due To Acephalic Spermatozoa
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... ORPHA:529970
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella OMIM:618670
Spermatogenic Failure 1
Oligospermia, Male infertility, Cryptozoospermia OMIM:258150
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia OMIM:277180
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure, Y-Linked, 2
Azoospermia OMIM:415000
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm morphology, Abnormal sperm tail morphology, Increased circulating gonadotropin lev... ORPHA:399808
Spermatogenic Failure 7
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility OMIM:612997
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Persistent Mullerian Duct Syndrome, Types I And Ii
Abnormal circulating hormone concentration, Abnormality of male internal genitalia, Male infertil... OMIM:261550
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Obstructive azoospermia, Male infertility OMIM:301060
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Spermatogenic Failure 51
Oligospermia, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm fla... OMIM:619177
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Spermatogenic Failure 18
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617576
Spermatogenic Failure 20
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617593
Spermatogenic Failure 19
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617592
Spermatogenic Failure 35
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618341
Spermatogenic Failure 33
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618152
Spermatogenic Failure 34
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618153
Ring Chromosome Y Syndrome
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Abnormality of the male geni... ORPHA:261529
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Azoospermia, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size OMIM:614897
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Infertility OMIM:608653
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased testicular size, Elevated circulating f... OMIM:618086
Spermatogenic Failure 38
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618433
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility ORPHA:48
Hypogonadism, Male
Testicular atrophy, Micropenis, Male hypogonadism, Hypospadias OMIM:241100
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Azoospermia, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Micropenis, Primary amenorrh... OMIM:614837
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Isolated Follicle Stimulating Hormone Deficiency
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... ORPHA:52901
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Abnormal vertebral morphology OMIM:615709
Young Syndrome
Azoospermia OMIM:279000
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 4
Recurrent spontaneous abortion, Azoospermia OMIM:270960
Spermatogenic Failure 24
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Short sperm flagella, Microcep... OMIM:617959
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Spondylometaphyseal Dysplasia, Corner Fracture Type
Hypoplasia of the odontoid process, Genu varum, Pectus carinatum, Hyperconvex vertebral body endp... OMIM:184255
Premature Ovarian Failure 10
Elevated circulating follicle stimulating hormone level, Azoospermia, Hypoplasia of the ovary, Pr... OMIM:612885
Spondylometaphyseal Dysplasia, East African Type
Genu varum, Metaphyseal widening, Rounded epiphyses, Ovoid vertebral bodies, Coxa vara, Bell-shap... OMIM:611702
Familial Scheuermann Disease
Abnormal form of the vertebral bodies, Kyphosis ORPHA:3135
Androgen Insensitivity, Partial
Infertility, Bifid scrotum, Azoospermia, Absent vas deferens, Hypogonadism, Micropenis, Cryptorch... OMIM:312300
Familial Male-Limited Precocious Puberty
Oligospermia, Macroorchidism, Long penis, Male infertility, Precocious puberty ORPHA:3000
Ciliary Dyskinesia, Primary, 40
Infertility, Azoospermia OMIM:618300
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Pectus carinatum, Finger syndactyly, Abnormal rib morphology, Clinodactyly of the 5th finger, Sco... ORPHA:3268
Spondylometaphyseal Dysplasia, Type A4
Broad ischia, Coxa valga, Pectus carinatum, Metaphyseal widening, Metaphyseal irregularity, Platy... OMIM:609052
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Absence of pubertal development, Micropenis, Primary amenorrhea, C... OMIM:614840
Heart Defects-Limb Shortening Syndrome
Death in infancy, Abnormal form of the vertebral bodies, Abnormality of the metaphysis, Kyphosis,... ORPHA:1354
Primary Basilar Invagination
Short neck, Abnormality of the cervical spine, Abnormal vertebral morphology ORPHA:2285
Morbid Obesity And Spermatogenic Failure
Oligospermia, Infertility, Type II diabetes mellitus, Azoospermia OMIM:615703
Symbrachydactyly Of Hands And Feet
Abnormality of the ulna, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the radius, Verte... ORPHA:1570
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Infertility, Hypogonadotropic hypogonadism, Micropenis, Primary amenorrhea, Cryptorchidism, Decre... OMIM:146110
Spondylocostal Dysostosis 3, Autosomal Recessive
Hypoplasia of the odontoid process, Kyphosis, Slender finger, Rib fusion, Vertebral segmentation ... OMIM:609813
Spondylocostal Dysostosis 1, Autosomal Recessive
Abnormality of the odontoid process, Death in infancy, Vertebral fusion, Hemivertebrae, Kyphoscol... OMIM:277300
Brachyolmia, Maroteaux Type
Pectus excavatum, Abnormal form of the vertebral bodies, Short thorax, Platyspondyly, Scoliosis ORPHA:93302
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine
Peripheral demyelination, Polyneuritis, Decreased nerve conduction velocity OMIM:162600
Spondylocostal Dysostosis 2, Autosomal Recessive
Hemivertebrae, Vertebral clefting, Rib fusion, Short neck, Vertebral segmentation defect OMIM:608681
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Azoospermia OMIM:300985
Endosteal Hyperostosis, Worth Type
Diaphyseal thickening, Sclerotic vertebral body, Abnormal form of the vertebral bodies, Clavicula... ORPHA:2790
Galactosialidosis
Abnormality of the vertebral column, Abnormal vertebral morphology ORPHA:351
Autosomal Dominant Brachyolmia
Kyphoscoliosis, Short thorax, Platyspondyly, Abnormality of the metaphysis, Increased vertebral h... ORPHA:93304
Acromesomelic Dysplasia, Maroteaux Type
Vertebral wedging, Beaking of vertebral bodies, Bowing of the long bones, Abnormal form of the ve... ORPHA:40
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormal ilium morphology, Bilateral coxa valga, Platyspondyly, Abnormal vertebral morphology ORPHA:163665
Kyphomelic Dysplasia
Anterior rib cupping, Lateral clavicle hook, Bowing of the long bones, Abnormal form of the verte... ORPHA:1801
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Azoospermia OMIM:615234
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Short greater sciatic notch, Wide-cupped costochondral junction... OMIM:187601
Acropectorovertebral Dysplasia
Toe syndactyly, Capitate-hamate fusion, Abnormal vertebral morphology, Bifid distal phalanx of th... OMIM:102510
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Erectile dysfunction, Decreased fertility ORPHA:481
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Infertility, Amenorrhea, Azoospermia OMIM:602390
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hypergonadotropic hypogonadism, Azoospermia OMIM:613724
Adrenal Hypoplasia, Congenital
Oligospermia, Decreased circulating aldosterone level, Adrenal insufficiency, Azoospermia, Hypogo... OMIM:300200
46,Xx Testicular Disorder Of Sex Development
Male hypogonadism, Decreased testicular size, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Sprengel Deformity
Cervical segmentation defect, Hemivertebrae, Rib segmentation abnormalities, Sprengel anomaly, Sp... OMIM:184400
Partial Androgen Insensitivity Syndrome
Hypospadias, Increased antimullerian hormone level, Aplasia of the uterus, Increased serum testos... ORPHA:90797
Autosomal Dominant Spondylocostal Dysostosis
Intrauterine growth retardation, Abnormal sacrum morphology, Posterior rib fusion, Missing ribs, ... ORPHA:1797
Epiphyseal Dysplasia, Multiple, 6
Irregular epiphyses, Small epiphyses, Flat distal femoral epiphysis, Arthralgia of the hip, Flat ... OMIM:614135
Spondylometaphyseal Dysplasia, A4 Type
Coxa vara, Flared, irregular rib ends, Platyspondyly, Short palm ORPHA:168555
Metatropic Dysplasia
Long thorax, Abnormal intervertebral disk morphology, Abnormal form of the vertebral bodies, Abno... ORPHA:2635
Hydrocephalus-Obesity-Hypogonadism Syndrome
Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism, Azoospermia ORPHA:2183
Mayer-Rokitansky-K├╝ster-Hauser Syndrome Type 2
Bicornuate uterus, Aplasia/hypoplasia of the uterus, Azoospermia ORPHA:2578
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Irregular epiphyses, Small epiphyses, Metaphyseal spurs, Thoracic hypoplasia, Bowing of the legs,... OMIM:608728
Spermatogenic Failure 15
Non-obstructive azoospermia OMIM:616950
Thoracolaryngopelvic Dysplasia
Horizontal ribs, Irregular chondrocostal junctions, Hypoplastic iliac wing, Metaphyseal widening,... OMIM:187760
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i... ORPHA:983
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Hypoplastic iliac wing, Irregular vertebral endplates, Beaking of vertebral bodies, Enlarged meta... OMIM:609616
Metaphyseal Chondrodysplasia, Schmid Type
Osteosclerosis of ribs, Genu varum, Metaphyseal irregularity, Short tubular bones of the hand, Fe... ORPHA:174
46,Xy Partial Gonadal Dysgenesis
Hypospadias, Adrenal insufficiency, Elevated circulating follicle stimulating hormone level, Urog... ORPHA:251510
Schneckenbecken Dysplasia
Anterior rib cupping, Lateral clavicle hook, Hypoplastic scapulae, Metaphyseal irregularity, Shor... OMIM:269250
Normosmic Congenital Hypogonadotropic Hypogonadism
Increased female libido, Secondary amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Absenc... ORPHA:432
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Azoospermia, Hypogonadotropic hypogonadism, Decreased circulating follicle st... OMIM:308700
Spondylocostal Dysostosis 4, Autosomal Recessive
Abnormality of the odontoid process, Vertebral fusion, Hemivertebrae, Myelomeningocele, Block ver... OMIM:613686
Spondylocostal Dysostosis 5
Butterfly vertebrae, Vertebral fusion, Pectus carinatum, Hemivertebrae, Posterior rib fusion, Mis... OMIM:122600
Mesomelic Dysplasia, Kantaputra Type
Tarsal synostosis, Abnormality of the humerus, Ulnar deviation of finger, Synostosis of carpal bo... ORPHA:1836
Osteomesopyknosis
Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Sclerotic vertebral body ORPHA:2777
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Abnormal sacrum morphology, Abnormal vertebral segmentation ... ORPHA:2345
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Pectus excavatum, Spindle-shaped finger, Abnormal vertebral morphology, Delayed epiphyseal ossifi... ORPHA:166024
Spondylometaphyseal Dysplasia, Axial
Proximal femoral metaphyseal irregularity, Thoracic hypoplasia, Anterior rib cupping, Platyspondy... OMIM:602271
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Thoracic hypoplasia, Small epiphyses, Coronal cleft vertebrae, Irregular vertebral endplates, Abn... OMIM:618363
Androgen Insensitivity Syndrome
Aplasia/Hypoplasia of the fallopian tube, Aplasia/hypoplasia of the uterus, Abnormal morphology o... ORPHA:754
47,Xyy Syndrome
Hypospadias, Oligospermia, Macroorchidism, Increased serum testosterone level, Azoospermia, Incre... ORPHA:8
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short neck, Abnormal vertebral morphology ORPHA:2015
Osteoarthritis With Mild Chondrodysplasia
Heberden's node, Schmorl's node, Irregular vertebral endplates, Beaking of vertebral bodies, Plat... OMIM:604864
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Peripheral demyelination, Decreased nerve conduction velocity OMIM:608236
46,Xx Sex Reversal 2
True hermaphroditism, Sex reversal, Bifid scrotum, Azoospermia, Hypoplasia of the vagina, Micrope... OMIM:278850
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Lumbar platyspondyly, Absent ossification of cervical vertebral bodies, Neonatal death, Lytic def... OMIM:601376
Kuskokwim Syndrome
Aplasia/Hypoplasia of the patella, Abnormal clavicle morphology, Abnormal form of the vertebral b... ORPHA:1149
Spondyloepimetaphyseal Dysplasia, Irapa Type
Upper limb undergrowth, Metaphyseal dysplasia, Capitate-hamate fusion, Pectus carinatum, Short me... OMIM:271650
Acrocapitofemoral Dysplasia
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... OMIM:607778
Thanatophoric Dysplasia, Type I
Short greater sciatic notch, Small abnormally formed scapulae, Wide-cupped costochondral junction... OMIM:187600
Ghosal Hematodiaphyseal Dysplasia
Abnormality of femur morphology, Diaphyseal thickening, Bowing of the long bones, Abnormal form o... ORPHA:1802
Spondyloepimetaphyseal Dysplasia, Strudwick Type
C1-C2 subluxation, Metaphyseal dappling, Anterior rib cupping, Pectus carinatum, Metaphyseal irre... OMIM:184250
Maternal Uniparental Disomy Of Chromosome X
Primary gonadal insufficiency, Ambiguous genitalia, Gonadal tissue inappropriate for external gen... ORPHA:261519
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Upper limb undergrowth, Short ribs, Cupped ribs, Iliac crest serration... ORPHA:168549
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Short middle phalanx of finger, Abnormal sacrum morphology, Fused cervical vertebrae, Thoracic he... ORPHA:1436
46,Xx Sex Reversal 1
Hypospadias, True hermaphroditism, Sex reversal, Elevated circulating follicle stimulating hormon... OMIM:400045
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Azoospermia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation tes... ORPHA:280679
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Infertility, Hypogonadotropic hypogonadism, Abnormality of the urethra, Ambiguous genitalia, Cryp... ORPHA:752
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Abnormality of the cervical spine, Superior rib anomalies OMIM:307500
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Metaphyseal cupping, Thin ribs, Short ribs, Narrow chest, Severe platyspondyly, Hypoplastic ischi... OMIM:151210
Spondyloepimetaphyseal Dysplasia, Irapa Type
Upper limb undergrowth, Pectus carinatum, Abnormality of epiphysis morphology, Short metatarsal, ... ORPHA:93351
Hypogonadism-Cataract Syndrome
Hypogonadism, Elevated circulating follicle stimulating hormone level, Infertility, Male hypogona... OMIM:240950
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypospadias, Increased serum testosterone level, Premature adrenarche, Ambiguous genitalia, femal... ORPHA:90791
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Poland Syndrome
Hemivertebrae, Unilateral oligodactyly, Short ribs, Sprengel anomaly, Syndactyly, Rib fusion, Uni... OMIM:173800
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Tibial bowing, Short finger, Metaphyseal widening, Metaphyseal irregularity, Hypoplastic inferior... OMIM:608940
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion OMIM:613702
Acrodysplasia Scoliosis
Vertebral segmentation defect, Scoliosis, Brachydactyly, Spina bifida occulta ORPHA:2956
48,Xyyy Syndrome
Primary gonadal insufficiency, Male hypogonadism, Azoospermia ORPHA:99329
49,Xyyyy Syndrome
Azoospermia, External genital hypoplasia, Increased circulating gonadotropin level, Male hypogona... ORPHA:99330
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Hypogonadism, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size OMIM:616030
Hemochromatosis, Type 1
Testicular atrophy, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Diabetes mellitus, Im... OMIM:235200
Osteogenesis Imperfecta, Type Ix
Short lower limbs, Pectus excavatum, Pectus carinatum, Platyspondyly, Kyphosis, Beaded ribs, Scol... OMIM:259440
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Bifid scrotum, Small scrotum, Abnormality of the endocrine system, Urogenital sinus anomaly, Ambi... ORPHA:753
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormality of epiphysis morphology, Bowing of the long bones, Abnormal clavicle morphology, Abno... ORPHA:93267
Achondrogenesis, Type Ii
Horizontal ribs, Broad long bones, Hypoplastic iliac wing, Short ribs, Absent vertebral body mine... OMIM:200610
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Pectus excavatum, Abnormal clavicle morphology, Kyphosis, Fused cervical vertebrae, Abnormal rib ... ORPHA:2522
Dyssegmental Dysplasia, Silverman-Handmaker Type
Thoracic hypoplasia, Bowing of the long bones, Neonatal death, Anisospondyly, Short long bone OMIM:224410
Juberg-Hayward Syndrome
Toe syndactyly, Intrauterine growth retardation, Hammertoe, Abnormal vertebral morphology, Hypopl... ORPHA:2319
Ring Chromosome 21 Syndrome
Infertility, Diabetes insipidus, Amenorrhea, Azoospermia ORPHA:1445
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Spondylometaphyseal Dysplasia, Kozlowski Type
Irregular acetabular roof, Pectus carinatum, Kyphoscoliosis, Platyspondyly, Short neck, Coxa vara... OMIM:184252
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Decreased response to growth hormone stimulation test, Decreased testicular size, Hypergonadotrop... OMIM:300845
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Bicornuate uterus, Hypoplasia of the uterus, Azoospermia OMIM:601076
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral segmentation defect, Supernumerary ribs, Vertebral fusion OMIM:221950
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Male pseudohermaphroditism, Infertility, Female external genitalia in individual with 46,XY karyo... OMIM:264300
Dyggve-Melchior-Clausen Disease
Abnormality of the vertebral column, Metaphyseal dysplasia, Hypoplastic acetabulae, Epiphyseal dy... ORPHA:239
Diastrophic Dysplasia
Intrauterine growth retardation, Short finger, Abnormality of epiphysis morphology, Ulnar deviati... ORPHA:628
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Secondary amenorrhea, Abnormality of the Leydig cells, Androgen insuff... OMIM:228300
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Thin ribs, Tapered finger, Irregular vertebral endplates, Metaphyseal irregularity, Dislocated ra... OMIM:618395
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Intrauterine growth retardation, Thin ribs, Hypoplastic iliac wing, Metaphyseal cupping of metaca... OMIM:300863
Spondyloepimetaphyseal Dysplasia, Missouri Type
Irregular sclerotic endplates, Small epiphyses, Genu varum, Tibial bowing, Radial bowing, Pear-sh... OMIM:602111
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Myelomeningocele, Abnormal vertebral segmentation ... ORPHA:66637
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Septopreoptic Holoprosencephaly
Dysphagia, Abnormal rib morphology, Abnormal vertebral morphology ORPHA:280195
Becker Nevus Syndrome
Pectus excavatum, Cervical ribs, Scoliosis, Hemivertebrae OMIM:604919
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Sprengel anomaly, Short neck, Scoliosis OMIM:214300
Acrofacial Dysostosis, Palagonia Type
Cutaneous finger syndactyly, Short 4th metacarpal, Abnormal vertebral morphology, Spina bifida oc... OMIM:601829
Endosteal Hyperostosis, Autosomal Dominant
Sclerotic vertebral body, Thickened cortex of long bones, Metatarsal diaphyseal endosteal scleros... OMIM:144750
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Pectus carinatum, Abnormal vertebral morphology, Abnormality of epiphysis morphology, Ulnar devia... ORPHA:93359
46,Xy Complete Gonadal Dysgenesis
Testicular dysgenesis, Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism ORPHA:242
Femoral-Facial Syndrome
Abnormal sacrum morphology, Coxa vara, Sprengel anomaly, Hip dysplasia, Abnormality of fibula mor... ORPHA:1988
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Death in infancy, Vertebral fusion, Short thorax, Sacral dimple, Short long bone, Vertebral segme... OMIM:618845
Smith-Mccort Dysplasia 1
Irregular epiphyses, Hypoplasia of the odontoid process, Genu varum, Hypoplastic scapulae, Beakin... OMIM:607326
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Tarsal synostosis, Posterior fusion of lumbosacral vertebrae, Abnormal form of the vertebral bodi... ORPHA:2064
48,Xxyy Syndrome
Infertility, Type II diabetes mellitus, Azoospermia, Hypergonadotropic hypogonadism, Cryptorchidi... ORPHA:10
Glossopharyngeal Neuralgia
Cranial nerve compression, Schwannoma, Abnormal glossopharyngeal nerve morphology ORPHA:221098
Nevus Comedonicus Syndrome
Toe syndactyly, Abnormal vertebral morphology, Preaxial polydactyly, Finger syndactyly, Spina bif... ORPHA:64754
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Osteogenesis Imperfecta, Type Vi
Biconcave vertebral bodies, Beaking of vertebral bodies, Coxa vara, Vertebral compression fractur... OMIM:613982
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Short middle phalanx of finger, Thoracic hemivertebrae, Scoliosis, Fused cervical vertebrae OMIM:309620
Pseudoachondroplasia
Genu varum, Fragmented epiphyses, Metaphyseal irregularity, Fragmented, irregular epiphyses, Atla... OMIM:177170
Achondrogenesis, Type Ia
Short clavicles, Hypoplastic scapulae, Unossified vertebral bodies, Short ribs, Hypoplasia of the... OMIM:200600
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Death in infancy, Intrauterine growth retardation, Abnormality of the calcaneus, Thin ribs, Hypop... ORPHA:163966
Autosomal Recessive Spondylocostal Dysostosis
Meningocele, Abnormal intervertebral disk morphology, Intrauterine growth retardation, Rib segmen... ORPHA:2311
Osteogenesis Imperfecta, Type Xv
Platyspondyly, Scoliosis, Thin ribs OMIM:615220
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hemivertebrae, Abnormal form of the vertebral bodies, Sandal gap, Sprengel anomaly, Abnormal rib ... ORPHA:2180
Complete Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian... ORPHA:99429
Dyggve-Melchior-Clausen Disease
Genu varum, Shield chest, Short metatarsal, Prominent calcaneus, Enlargement of the costochondral... OMIM:223800
Lethal Congenital Contracture Syndrome Type 1
Abnormal form of the vertebral bodies, Abnormal rib morphology, Slender long bone, Short neck, Ab... ORPHA:1486
Holt-Oram Syndrome
Pectus excavatum, Triphalangeal thumb, Phocomelia, Aplasia/Hypoplasia of the radius, Abnormal cla... ORPHA:392
Ciliary Dyskinesia, Primary, 45
Absent inner and outer dynein arms, Male infertility OMIM:618801
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Small epiphyses, Anterior rib cupping, Hypoplasia of the odontoid process, Thin ribs, Short finge... OMIM:300232
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Lethal Congenital Contracture Syndrome 1
Neonatal death, Widening of cervical spinal canal, Abnormal thorax morphology OMIM:253310
Fibrochondrogenesis 1
Broad ischia, Short ribs, Camptodactyly, Short long bone, Anterior rib cupping, Hypoplastic scapu... OMIM:228520
Weismann-Netter Syndrome
Abnormality of tibia morphology, Abnormality of the ulna, Tibial bowing, Fibular bowing, Abnormal... ORPHA:3344
Becker Nevus Syndrome
Pectus excavatum, Pectus carinatum, Kyphosis, Spina bifida occulta, Supernumerary ribs, Rib fusio... ORPHA:64755
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Short neck, Abnormal form of the vertebral bodies, Abnormal rib morphology, Hemivertebrae ORPHA:2234
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Biconcave vertebral bodies, Short clavicles, Prominent deltoid tuberosities, Short ribs, Short hu... OMIM:610319
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Infertility, Aplasia/hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Abse... ORPHA:2232
Spermatogenic Failure 9
Globozoospermia OMIM:613958
3M Syndrome
Horizontal ribs, Intrauterine growth retardation, Thin ribs, Rocker bottom foot, Short thorax, Co... ORPHA:2616
Phaver Syndrome
Broad hallux phalanx, Butterfly vertebrae, Triphalangeal thumb, Intrauterine growth retardation, ... ORPHA:2876
Spondyloepimetaphyseal Dysplasia, Shohat Type
Thoracic hypoplasia, Genu varum, Bowing of the legs, Metaphyseal widening, Abnormality of epiphys... ORPHA:93352
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Aplasia/Hypoplasia of the phalanges of the hallux, Abnormal vertebral morphology, ... ORPHA:337
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypospadias, Increased circulating progesterone, Aplasia of the uterus, Bifid scrotum, Elevated c... ORPHA:90793
Fibrochondrogenesis
Hypoplastic scapulae, Abnormal form of the vertebral bodies, Abnormality of the metaphysis, Short... ORPHA:2021
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Tibial bowing, Radial bowing, Intrauterine growth retardation, Lower limb undergrowth, Bowing of ... ORPHA:3035
Multiple Synostoses Syndrome 1
Short lower limbs, 2-3 toe syndactyly, Cutaneous finger syndactyly, Lower limb undergrowth, Enlar... OMIM:186500
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Anterior rib cupping, Short greater sciatic notch, Flared femoral metaphys... OMIM:184253
Laryngotracheoesophageal Cleft Type 4
Abnormal form of the vertebral bodies, Abnormal rib morphology ORPHA:93941
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Hemivertebrae, Abnormal form of the vertebral bodies, Missing ribs, Arachnodactyly, Abnormal rib ... ORPHA:2759
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Tarsal synostosis, Absent phalangeal crease, Fused cervical vertebrae, Short neck, Fused thoracic... OMIM:618469
Familial Glucocorticoid Deficiency
Decreased circulating aldosterone level, Testicular adrenal rest tumor, Adrenal insufficiency, Co... ORPHA:361
Sillence Syndrome
Short middle phalanx of finger, Bulbous tips of toes, Camptodactyly, Flat acetabular roof, Large ... ORPHA:3168
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of fingers, Toe syndactyly, Broad hallux phalanx, Pectus carinatum, Abnormalit... ORPHA:3082
Mosaic Trisomy 14
Short neck, Narrow chest, Abnormal rib morphology, Camptodactyly of finger ORPHA:1703
Mucopolysaccharidosis Type 4
Spinal canal stenosis, Pectus carinatum, Abnormality of epiphysis morphology, Bowing of the long ... ORPHA:582
Asymmetric Short Stature Syndrome
Lumbar scoliosis, Fused cervical vertebrae OMIM:108450
Osteogenesis Imperfecta, Type Ii
Thoracic hypoplasia, Tibial bowing, Broad long bones, Thin ribs, Platyspondyly, Crumpled long bon... OMIM:166210
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypospadias, Bifid scrotum, Ambiguous genitalia, female, Urogenital sinus anomaly, Ambiguous geni... ORPHA:1772
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Metaphyseal dysplasia, Genu varum, Irregular chondrocostal junctions, Metaphyseal irregularity, S... OMIM:250420
Jeune Syndrome
Toe syndactyly, Cone-shaped epiphysis, Abnormal sternum morphology, Abnormal clavicle morphology,... ORPHA:474
Achondrogenesis Type 1B
Short thorax, Short foot, Narrow chest, Abnormal rib morphology, Short neck, Umbilical hernia ORPHA:93298
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Triphalangeal thumb, Proximal placement of thumb, Abnormal thumb morphology, Sh... ORPHA:1120
White Forelock With Malformations
Finger syndactyly, Sprengel anomaly, Abnormal rib morphology, Clinodactyly of the 5th finger, Spi... ORPHA:2475
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... OMIM:617091
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Small epiphyses, Cervical instability, Abnormal vertebral morphology, Abnormally ossified vertebr... ORPHA:93346
Osteogenesis Imperfecta, Type Xvi
Beaded ribs, Vertebral compression fracture OMIM:616229
Melnick-Needles Syndrome
Short clavicles, Bowing of the long bones, Short thorax, Abnormality of the metaphysis, Hip dislo... ORPHA:2484
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Vacterl Association With Hydrocephalus
Abnormality of the vertebral column, Radial club hand, Abnormal vertebral morphology, Stillbirth,... OMIM:276950
46,Xx Ovotesticular Disorder Of Sex Development
Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali... ORPHA:2138
Cole-Carpenter Syndrome
Intrauterine growth retardation, Bowing of the long bones, Abnormal form of the vertebral bodies,... ORPHA:2050
Atelosteogenesis, Type I
Distal tapering femur, Short metatarsal, Neonatal death, 11 pairs of ribs, Short humerus, Club-sh... OMIM:108720
Kbg Syndrome
Vertebral fusion, Radial deviation of finger, Cervical ribs, Syndactyly, Thoracic kyphosis, Verte... OMIM:148050
Functioning Gonadotropic Adenoma
Oligospermia, Abnormal prolactin level, Increased serum testosterone level, Abnormality of the me... ORPHA:91348
Mucopolysaccharidosis, Type Iva
Epiphyseal deformities of tubular bones, Cervical subluxation, Metaphyseal widening, Pointed prox... OMIM:253000
Mucopolysaccharidosis, Type Ivb
Epiphyseal deformities of tubular bones, Cervical subluxation, Metaphyseal widening, Pointed prox... OMIM:253010
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Adrenal insufficiency, Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hypogonadism,... ORPHA:300298
8P11.2 Deletion Syndrome
Azoospermia, Hypogonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary axis, Paten... ORPHA:251066
Mucopolysaccharidosis, Type Vi
Hypoplasia of the odontoid process, Anterior wedging of L1, Hypoplastic iliac wing, Metaphyseal w... OMIM:253200
Bilateral Polymicrogyria
Facial diplegia, Abnormal glossopharyngeal nerve morphology ORPHA:268940
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hor... OMIM:308750
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Pectus excavatum, Intrauterine growth retardation, Hemivertebrae, Posterior rib fusion, Abnormal ... OMIM:608406
Tick-Borne Encephalitis
Abnormal cranial nerve morphology, Abnormal glossopharyngeal nerve morphology, Facial palsy, Poly... ORPHA:297
Lethal Kniest-Like Dysplasia
Anterior rib cupping, Broad long bones, Coronal cleft vertebrae, Short ribs, Platyspondyly, Short... ORPHA:2347
Opsismodysplasia
Metaphyseal cupping, Anterior rib cupping, Hypoplastic vertebral bodies, Posterior rib cupping, S... OMIM:258480
Achondrogenesis Type 1A
Multiple rib fractures, Short thorax, Short foot, Narrow chest, Short palm, Short neck, Umbilical... ORPHA:93299
Acro-Renal-Mandibular Syndrome
Butterfly vertebrae, Intrauterine growth retardation, Thin ribs, Hypoplastic scapulae, Pectus car... ORPHA:958
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Oligospermia, Cryptorchidism OMIM:314300
Wildervanck Syndrome
Meningocele, Short neck, Fused cervical vertebrae ORPHA:3456
Cooper-Jabs Syndrome
Missing ribs, Proximal placement of thumb, Abnormal rib morphology, Camptodactyly of finger, Abno... ORPHA:1488
Three M Syndrome 2
Intrauterine growth retardation, Thin ribs, Pectus carinatum, Prominent calcaneus, Short thorax, ... OMIM:612921
Bloom Syndrome
Decreased fertility in females, Type II diabetes mellitus, Cryptorchidism, Azoospermia OMIM:210900
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Male infertility, Immotile sperm OMIM:614874
Fibrodysplasia Ossificans Progressiva
Broad femoral neck, Hallux valgus, Metaphyseal widening, Progressive cervical vertebral spine fus... OMIM:135100
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the patella, Genu varum... ORPHA:3320
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Holzgreve Syndrome
Abnormality of the ulna, Intrauterine growth retardation, Abnormal rib morphology, Hand polydacty... ORPHA:2167
Spondyloepimetaphyseal Dysplasia, X-Linked
Metaphyseal irregularity, Long fibula, Anterior wedging of T12, Short phalanx of finger, Short lo... OMIM:300106
Acromesomelic Dysplasia 4
Genu varum, Short metatarsal, Broad toe, Metaphyseal irregularity, Short toe, Thoracic scoliosis,... OMIM:619636
Osteogenesis Imperfecta, Type Xviii
Biconcave vertebral bodies, Thin ribs, Bowing of the long bones, Vertebral compression fracture, ... OMIM:617952
Greenberg Dysplasia
Epiphyseal stippling, Neonatal death, Short ribs, Supernumerary vertebral ossification centers, 1... OMIM:215140
Dysosteosclerosis
Broad femoral neck, Abnormal metaphyseal trabeculation, Diaphyseal thickening, Increased interver... OMIM:224300
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Klippel-Feil Syndrome 1, Autosomal Dominant
Abnormal vertebral segmentation and fusion, Abnormality of limb bone morphology, Cervical C2/C3 v... OMIM:118100
Otospondylomegaepiphyseal Dysplasia
Tibial bowing, Fibular bowing, Coronal cleft vertebrae, Abnormal vertebral morphology, Abnormally... ORPHA:1427
48,Xxxy Syndrome
Infertility, Type II diabetes mellitus, Azoospermia, Small scrotum, Hypogonadism, Cryptorchidism,... ORPHA:96263
Stapes Ankylosis With Broad Thumbs And Toes
Toe syndactyly, Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger, Short dist... OMIM:184460
Holt-Oram Syndrome
Pectus excavatum, Short clavicles, Triphalangeal thumb, Phocomelia, Abnormal vertebral morphology... OMIM:142900
Brachytelephalangic Chondrodysplasia Punctata
Abnormality of the vertebral column, C1-C2 subluxation, Epiphyseal stippling, Short distal phalan... ORPHA:79345
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Triangular shaped distal phalanges of the hand, Abnormal diaphysis morphology, Dysphagia, Thin ri... ORPHA:73230
Gm1-Gangliosidosis, Type I
Thickened ribs, Death in infancy, Intrauterine growth retardation, Beaking of vertebral bodies, K... OMIM:230500
Campomelia, Cumming Type
Death in infancy, Bowing of the long bones, Abnormal thorax morphology, Abnormal rib morphology, ... ORPHA:1318
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility ORPHA:2239
Osteogenesis Imperfecta, Type Iii
Biconcave vertebral bodies, Tibial bowing, Thin ribs, Kyphosis, Slender long bone, Protrusio acet... OMIM:259420
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Hypoplastic ilia, Bowing of the legs, Ivory epiphyses, Abnormality of epiphysis morphology, Bowin... ORPHA:85167
Mucopolysaccharidosis Type 6
Epiphyseal dysplasia, Abnormality of the metaphysis, Kyphosis, Genu valgum, Ovoid vertebral bodie... ORPHA:583
Craniodiaphyseal Dysplasia
Abnormal rib morphology, Diaphyseal thickening ORPHA:1513
Kniest-Like Dysplasia, Lethal
Coronal cleft vertebrae, Metaphyseal irregularity, Short ribs, Platyspondyly, Short diaphyses, Sh... OMIM:245190
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short lower limbs, Upper limb undergrowth, Genu varum, Metaphyseal irregularity, Short long bone,... ORPHA:93315
Cenani-Lenz Syndrome
Toe syndactyly, Oligodactyly, Abnormal form of the vertebral bodies, Synostosis of carpal bones, ... ORPHA:3258
Classic Galactosemia
Secondary amenorrhea, Oligomenorrhea, Decreased serum insulin-like growth factor 1, Male infertil... ORPHA:79239
49,Xxxxy Syndrome
Infertility, Type II diabetes mellitus, Azoospermia, Small scrotum, Hypogonadism, Cryptorchidism,... ORPHA:96264
Hypertrichotic Osteochondrodysplasia, Cantu Type
Short hallux, Broad hallux phalanx, Abnormality of the metaphysis, Platyspondyly, Finger syndacty... ORPHA:1517
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Horizontal ribs, Lateral clavicle hook, Postaxial polydactyly, Narrow chest, Bell-shaped thorax, ... OMIM:615633
Ring Chromosome 22 Syndrome
Azoospermia ORPHA:1446
Bresek Syndrome
Intrauterine growth retardation, Hemivertebrae, Neonatal death, Postaxial hand polydactyly, Scoli... ORPHA:85284
Kniest Dysplasia
Enlarged epiphyses, Hypoplasia of the odontoid process, Coronal cleft vertebrae, Vertebral wedgin... ORPHA:485
Mucopolysaccharidosis, Type Iiic
Ovoid thoracolumbar vertebrae, Thickened ribs, Dysphagia, Kyphoscoliosis OMIM:252930
Multiple Pterygium Syndrome, X-Linked
Intrauterine growth retardation, Vertebral fusion, Thin ribs, Short finger, Abnormal cervical cur... OMIM:312150
Spondylometaphyseal Dysplasia, Sedaghatian Type
Metaphyseal irregularity, Long fibula, Short ribs, Cupped ribs, 11 pairs of ribs, Iliac crest ser... OMIM:250220
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Abnormal diaphysis morphology, Overtubulated long bones, Vertebral arch anomaly, Broad ribs, Shor... ORPHA:85184
Mucopolysaccharidosis, Type Iiia
Ovoid thoracolumbar vertebrae, Thickened ribs OMIM:252900
Spondylometaphyseal Dysplasia, Sedaghatian Type
Cone-shaped epiphysis, Abnormal scapula morphology, Long fibula, Platyspondyly, Short metacarpal,... ORPHA:93317
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Frontometaphyseal Dysplasia 1
Increased density of long bone diaphyses, Long phalanx of finger, Partial fusion of carpals, Coat... OMIM:305620
Poland Syndrome
Abnormality of the ulna, Aplasia/Hypoplasia of the thumb, Abnormal sternum morphology, Aplasia/Hy... ORPHA:2911
Cardiospondylocarpofacial Syndrome
Tarsal synostosis, Cone-shaped epiphysis, Fused cervical vertebrae, Pseudoepiphyses, Carpal synos... OMIM:157800
Aromatase Deficiency
Macroorchidism, postpubertal, Type II diabetes mellitus, Ambiguous genitalia, female, Female infe... ORPHA:91
Multiple Pterygium Syndrome, Lethal Type
Intrauterine growth retardation, Vertebral fusion, Thin ribs, Short finger, Abnormal cervical cur... OMIM:253290
Mucolipidosis Iii Alpha/Beta
Soft tissue swelling of interphalangeal joints, Irregular carpal bones, Short ribs, Split hand, S... OMIM:252600
Prune Belly Syndrome
Pectus excavatum, Congenital hip dislocation, Abnormal rib morphology, Vertebral segmentation def... ORPHA:2970
Axial Mesodermal Dysplasia Spectrum
Abnormal form of the vertebral bodies, Missing ribs, Abnormal rib morphology, Abnormality of pelv... ORPHA:1834
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormality of pelvic girdle bone morphology, Intrauterine growth retardation, Abnormal rib morph... ORPHA:1506
Ciliary Dyskinesia, Primary, 14
Immotile sperm, Reduced sperm motility, Absent inner dynein arms, Male infertility, Abnormal axon... OMIM:613807
Osteogenesis Imperfecta, Type X
Thin ribs, Bowing of the long bones, Platyspondyly, Genu valgum, Vertebral compression fracture, ... OMIM:613848
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Thin ribs, Vertebral fusion, Hemivertebrae, Missing ribs, Short ribs, Supernumerary vertebrae, Bl... OMIM:271520
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Thoracic hypoplasia, Intrauterine growth retardation, Adducted thumb, Decreased fibular diameter,... OMIM:616897
Kyphomelic Dysplasia
Flat acetabular roof, Thoracic hypoplasia, Anterior rib cupping, Tibial bowing, Radial bowing, La... OMIM:211350
H Syndrome
Amenorrhea, Azoospermia, Hypogonadism, Micropenis, Diabetes mellitus, Decreased testicular size, ... ORPHA:168569
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Pectus carinatum, Abnormal rib morphology, Hyperlordosis, Clinodactyly of the 5th finger, Abnorma... ORPHA:3068
Cerebrofaciothoracic Dysplasia
Bifid ribs, Hemivertebrae, Sprengel anomaly, Narrow chest, Rib fusion, Short neck, Vertebral segm... ORPHA:1394
Mucopolysaccharidosis, Type Iiid
Short neck, Thickened ribs, Dysphagia, Ovoid thoracolumbar vertebrae OMIM:252940
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Foot polydactyly, Split hand, Vertebral segmentation defect, Phocomelia ORPHA:3004
Cole-Carpenter Syndrome 2
Pectus excavatum, Thin ribs, Platyspondyly, Kyphosis, Narrow iliac wing OMIM:616294
Cleidocranial Dysplasia
Short clavicles, Hypoplastic scapulae, Tapered finger, Abnormality of epiphysis morphology, Abnor... ORPHA:1452
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
C1-C2 subluxation, Epiphyseal stippling, Long fibula, Short ribs, Atlantoaxial instability, Hip s... OMIM:271665
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Thoracic hypoplasia, Horizontal ribs, Absent tibia, Cone-shaped epiphysis, Lateral clavicle hook,... OMIM:613091
Cartilage-Hair Hypoplasia
Metaphyseal dysplasia, Abnormal form of the vertebral bodies, Short thorax, Abnormality of pelvic... ORPHA:175
Sclerosteosis 1
Sclerotic scapulae, Deviation of finger, Broad ribs, Broad clavicles, Abnormality of pelvic girdl... OMIM:269500
Osteogenesis Imperfecta, Type Viii
Tibial bowing, Radial bowing, Thin ribs, Platyspondyly, Kyphosis, Short metacarpal, Barrel-shaped... OMIM:610915
Mucopolysaccharidosis, Type Iiib
Ovoid thoracolumbar vertebrae, Thickened ribs OMIM:252920
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Abnormality of the vertebral column, Abnormal vertebral morphology, Proximal placement of thumb, ... OMIM:314390
Alagille Syndrome
Intrauterine growth retardation, Abnormal form of the vertebral bodies, Spina bifida occulta, Abn... ORPHA:52
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome
Intrauterine growth retardation, Vertebral fusion, Hemivertebrae, 11 pairs of ribs, Narrow chest,... ORPHA:94095
Pyknoachondrogenesis
Poorly ossified vertebrae, Horizontal ribs, Short iliac bones, Aplastic pubic bones, Short thorax... ORPHA:3003
Familial Osteodysplasia, Anderson Type
Bifid femur, Abnormal form of the vertebral bodies, Aplastic clavicle, Missing ribs, Kyphosis, Ap... ORPHA:2769
Campomelic Dysplasia
Thoracic hypoplasia, Shortening of all phalanges of the toes, Shortening of all phalanges of fing... OMIM:114290
Trisomy 13
Intrauterine growth retardation, Kyphosis, Narrow chest, Abnormal rib morphology, Postaxial hand ... ORPHA:3378
Pontine Tegmental Cap Dysplasia
Dysphagia, Scoliosis, Hemivertebrae, Rib fusion OMIM:614688
Pituitary Dermoid And Epidermoid Cysts
Oligospermia, Increased circulating prolactin concentration, Enlarged pituitary gland, Oligomenor... ORPHA:91351
Acrorenal-Mandibular Syndrome
Toe syndactyly, Butterfly vertebrae, Intrauterine growth retardation, Thin ribs, Hypoplastic scap... OMIM:200980
Grant Syndrome
Abnormality of the glenoid fossa, Bowing of the long bones, Sprengel anomaly, Narrow chest, Abnor... ORPHA:2097
Orofaciodigital Syndrome Iii
Pectus excavatum, Kyphosis, Short sternum, Postaxial foot polydactyly, Postaxial hand polydactyly OMIM:258850
Basal Cell Nevus Syndrome
Polydactyly, Bifid ribs, Vertebral fusion, Vertebral wedging, Abnormal sternum morphology, Hemive... OMIM:109400
Cat-Eye Syndrome
Intrauterine growth retardation, Hip dysplasia, Abnormal rib morphology ORPHA:195
Microcephalic Primordial Dwarfism, Toriello Type
Abnormality of epiphysis morphology, Intrauterine growth retardation, Abnormal rib morphology, Br... ORPHA:2643
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Hallux valgus, Epiphyseal dysplasia, Cupped ribs, 11 pairs of ribs, Hip subluxation, Short long b... OMIM:271640
Hemangiomatosis, Cutaneous, With Associated Features
Abnormality of the vertebral column, Abnormal vertebral morphology OMIM:234800
Lethal Congenital Contracture Syndrome 10
Intrauterine growth retardation, Adducted thumb, Overlapping fingers, Narrow chest, Thoracic scol... OMIM:617022
Microphthalmia, Syndromic 3
Butterfly vertebrae, Vertebral fusion, Hemivertebrae, Missing ribs, Vertebral hypoplasia, Supernu... OMIM:206900
Stuve-Wiedemann Syndrome 1
Abnormal metaphyseal trabeculation, Broad ischia, Tibial bowing, Hypoplastic iliac body, Thin rib... OMIM:601559
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Short ribs, Syndactyly, Abnormal pelvis bone morphology, Short long bo... ORPHA:1505
Radio-Renal Syndrome
Abnormal form of the vertebral bodies, Hypoplasia of the radius, Abnormal rib morphology, Short p... ORPHA:3015
Mosaic Trisomy 8
Patellar aplasia, Narrow pelvis bone, Short neck, Narrow chest, Abnormal rib morphology, Camptoda... ORPHA:96061
Vacterl/Vater Association
Abnormal intervertebral disk morphology, Intrauterine growth retardation, Abnormal sacrum morphol... ORPHA:887
X-Linked Hypophosphatemia
Abnormality of lower-limb metaphyses, Genu varum, Sacroiliac joint synovitis, Bowing of the legs,... ORPHA:89936
Hurler Syndrome
Spinal canal stenosis, Death in infancy, Abnormal vertebral morphology, Abnormality of epiphysis ... ORPHA:93473
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Craniometadiaphyseal Dysplasia
Genu varum, Broad long bones, Genu valgum, Coxa valga, Broad ribs, Flared metaphysis, Scoliosis OMIM:269300
Generalized Glucocorticoid Resistance Syndrome
Oligospermia, Adrenal hyperplasia, Decreased circulating aldosterone level, Infertility, Oligomen... ORPHA:786
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Abnormal rib morphology ORPHA:276422
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Broad ribs, Flaring of rib cage, Fused cervical vertebrae OMIM:612852
Craniofaciofrontodigital Syndrome
Pectus excavatum, Hypoplastic vertebral bodies, Broad ribs, Short neck, Hypoplastic pelvis OMIM:114620
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Infertility, Amenorrhea, Hypogonadotropic hypogonadism, Erectile dysfunction,... ORPHA:465508
Renal Dysplasia-Limb Defects Syndrome
Fibular aplasia, Intrauterine growth retardation, Thin ribs, Phocomelia, Aplasia of the ulna, Neo... OMIM:266910
Otopalatodigital Syndrome Type 2
Fibular aplasia, Tarsal synostosis, Myelomeningocele, Abnormal vertebral segmentation and fusion,... ORPHA:90652
Steinfeld Syndrome
Abnormality of the vertebral column, Phocomelia, Aplasia/Hypoplasia of the thumb, Abnormal verteb... OMIM:184705
Mosaic Trisomy 20
Spinal canal stenosis, Intrauterine growth retardation, Vertebral fusion, Kyphosis, Fused cervica... ORPHA:1724
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Pectus excavatum, Butterfly vertebrae, Fused cervical vertebrae, Sprengel anomaly, Spina bifida o... OMIM:619227
Meier-Gorlin Syndrome 1
Cutaneous finger syndactyly, Genu varum, Short ribs, Camptodactyly, Abnormality of pelvic girdle ... OMIM:224690
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Missing ribs, Aplasia/Hypoplasia involving the pelvis, Abnormal ri... ORPHA:3301
Benign Schwannoma
Abnormal cranial nerve morphology, Vestibular Schwannoma, Facial palsy, Peripheral Schwannoma, Ab... ORPHA:252164
Multiple Pterygium Syndrome, Escobar Variant
Long clavicles, Patellar aplasia, Bilateral camptodactyly, Rocker bottom foot, Anterior clefting ... OMIM:265000
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Death in infancy, Phocomelia, Bilateral radial aplasia, Finger syndactyly, Short phal... OMIM:274000
Histiocytosis-Lymphadenopathy Plus Syndrome
Pancreatic hypoplasia, Azoospermia, Patent ductus arteriosus, Micropenis, Type I diabetes mellitu... OMIM:602782
Craniosynostosis, Herrmann-Opitz Type
Intrauterine growth retardation, Split hand, Finger syndactyly, Abnormal rib morphology, Brachyda... ORPHA:2145
Osteogenesis Imperfecta, Type Vii
Pectus excavatum, Death in infancy, Bowing of the legs, Multiple rib fractures, Crumpled long bon... OMIM:610682
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Horizontal ribs, Lateral clavicle hook, Pectus carinatum, Polysyndactyly of hallux, Disproportion... OMIM:263520
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/Hypoplasia of the phalanges of the toes, Occipital meningocele, Phocomelia, Aplastic pubi... OMIM:276820
Bloom Syndrome
Oligospermia, Azoospermia, Male infertility, Diabetes mellitus, Premature ovarian insufficiency ORPHA:125
Occipital Horn Syndrome
Pectus excavatum, Short clavicles, Capitate-hamate fusion, Pectus carinatum, Platyspondyly, Genu ... OMIM:304150
Robinow Syndrome, Autosomal Recessive 1
Duplication of the distal phalanx of hand, Broad toe, Hypoplastic sacrum, Bifid distal phalanx of... OMIM:268310
Hereditary Amyloidosis With Primary Renal Involvement
Oligospermia, Hypogonadism, Abnormal testis morphology, Primary testicular failure, Male infertility ORPHA:85450
Autosomal Dominant Cerebellar Ataxia
Azoospermia ORPHA:99
Fanconi Anemia
Hypospadias, Azoospermia, Abnormal preputium morphology, Abnormality of the hypothalamus-pituitar... ORPHA:84
Autosomal Dominant Popliteal Pterygium Syndrome
Toe syndactyly, Split hand, Finger syndactyly, Abnormal rib morphology, Scoliosis ORPHA:1300
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Intrauterine growth retardation, Abnormal rib morphology ORPHA:2772
Wolfram Syndrome 1
Testicular atrophy, Diabetes insipidus, Diabetes mellitus, Hypothyroidism OMIM:222300
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Horizontal ribs, Long thorax, Lateral clavicle hook, Postaxial polydactyly, Neonatal death, Fibul... OMIM:617925
Schwartz-Jampel Syndrome
Death in infancy, Protrusio acetabuli, Abnormally ossified vertebrae, Umbilical hernia, Shoulder ... ORPHA:800
Short-Rib Thoracic Dysplasia 12
Horizontal ribs, Intrauterine growth retardation, Hypoplastic scapulae, Bowing of the legs, Short... OMIM:269860
Renpenning Syndrome
Pectus excavatum, Abnormal thumb morphology, Sprengel anomaly, Abnormal rib morphology, Clinodact... ORPHA:3242
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Testicular atrophy, Secondary amenorrhea, Primary amenorrhea, Premature ovarian insufficiency, Hy... OMIM:157640
Hypophosphatasia
Bowing of the long bones, Narrow chest, Abnormal rib morphology, Abnormality of the metaphysis ORPHA:436
Aspergillosis
Abnormality of the vertebral column, Abnormal rib morphology, Abnormality of long bone morphology ORPHA:1163
Kagami-Ogata Syndrome
Thoracic hypoplasia, Dysphagia, Kyphoscoliosis, Coat hanger sign of ribs, Bell-shaped thorax, Cox... ORPHA:254519
Myhre Syndrome
Intrauterine growth retardation, Abnormality of epiphysis morphology, Abnormality of the metaphys... ORPHA:2588
Osteogenesis Imperfecta
Abnormal form of the vertebral bodies, Enlarged vertebral pedicles, Protrusio acetabuli, Femoral ... ORPHA:666
Fibrous Dysplasia Of Bone
Abnormality of the ulna, Abnormality of femur morphology, Bowing of the long bones, Abnormal clav... ORPHA:249
Aarskog-Scott Syndrome
Testicular atrophy, Elevated circulating follicle stimulating hormone level, Elevated circulating... OMIM:305400
Camptodactyly Syndrome, Guadalajara Type 3
Thickened cortex of long bones, Small hand, Short foot, Abnormal rib morphology, Broad femoral ne... ORPHA:488434
Cog1-Cdg
Irregularity of vertebral bodies, Butterfly vertebrae, Vertebral segmentation defect, Kyphoscolio... ORPHA:263508
Femoral-Facial Syndrome
Toe syndactyly, Rib fusion, Hemivertebrae, Dysplastic sacrum, Hypoplastic acetabulae, Short fifth... OMIM:134780
Multiple Pterygium-Malignant Hyperthermia Syndrome
Metatarsus adductus, Pectus excavatum, Tapered finger, Ulnar deviation of finger, Arachnodactyly,... ORPHA:2215
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Absent tibia, Short metatarsal, Proximal placement of thumb, Hypoplasia of the radius, Shallow ac... OMIM:609945
Monosomy 9Q22.3
Abnormality of the vertebral column, Pectus excavatum, Polydactyly, Kyphosis, Abnormal rib morpho... ORPHA:77301
Weill-Marchesani Syndrome 1
Broad metatarsal, Spinal canal stenosis, Broad phalanges of the hand, Broad ribs, Scoliosis, Lumb... OMIM:277600
Ulbright-Hodes Syndrome
Fibular aplasia, Ovoid thoracolumbar vertebrae, Severe intrauterine growth retardation, Abnormal ... ORPHA:3404
Aicardi Syndrome
Butterfly vertebrae, Bifid ribs, Block vertebrae, Small hand, Missing ribs, Hip dysplasia, Supern... ORPHA:50
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Irregular epiphyses, Horizontal ribs, Death in infancy, Early ossification of capital femoral epi... OMIM:208500
Aicardi Syndrome
Butterfly vertebrae, Bifid ribs, Hemivertebrae, Block vertebrae, Missing ribs, Proximal placement... OMIM:304050
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Metacarpal synostosis, Camptodactyly, Femoral bowing, Proximal tibial and fibular fusion, Radioul... ORPHA:95699
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum, Supraumbilical raphe OMIM:140850
Fanconi Anemia, Complementation Group A
Cryptorchidism, Male infertility, Hypergonadotropic hypogonadism OMIM:227650
Simpson-Golabi-Behmel Syndrome
Toe syndactyly, Pectus excavatum, Death in infancy, Vertebral fusion, Congenital hip dislocation,... ORPHA:373
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Coffin-Lowry Syndrome
Pectus excavatum, Pectus carinatum, Tapered finger, Lumbar kyphosis, Bifid sternum, Kyphosis, Nar... OMIM:303600
Fetal Akinesia Deformation Sequence 1
Short umbilical cord, Thoracic hypoplasia, Intrauterine growth retardation, Thin ribs, Rocker bot... OMIM:208150
Cerebrocostomandibular Syndrome
Thoracic hypoplasia, Congenital hip dislocation, Calcaneal epiphyseal stippling, 11 pairs of ribs... OMIM:117650
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormal sternum morphology, Short ribs, Abnormal rib morphology, Postaxial hand polydactyly, Bro... ORPHA:2519
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Oculocerebrocutaneous Syndrome
Missing ribs, Congenital hip dislocation, Finger syndactyly, Abnormal rib morphology, Short dista... ORPHA:1647
Ciliary Dyskinesia, Primary, 1
Absent outer dynein arms, Male infertility OMIM:244400
Primary Ciliary Dyskinesia
Female infertility, Male infertility, Abnormal sperm motility ORPHA:244
Oculocerebrorenal Syndrome Of Lowe
Diabetes insipidus, Azoospermia, Hyperparathyroidism, Abnormal calcium-phosphate regulating hormo... ORPHA:534
Baller-Gerold Syndrome
Aplasia of metacarpal bones, Rib fusion, Carpal bone aplasia, Aplasia/Hypoplasia of the thumb, Ab... OMIM:218600
Mucopolysaccharidosis Type 3
Dysphagia, Avascular necrosis of the capital femoral epiphysis, Abnormal clavicle morphology, Abn... ORPHA:581
Antley-Bixler Syndrome
Narrow pelvis bone, Arachnodactyly, Narrow chest, Abnormal rib morphology, Camptodactyly of finge... ORPHA:83
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Delayed puberty, Cholelithiasis, Azoospermia ORPHA:2072
Craniorachischisis
Sirenomelia, Myelomeningocele, Bifid sternum, Cervical spina bifida, Spinal dysraphism ORPHA:63260
Smith-Lemli-Opitz Syndrome
2-3 toe syndactyly, Intrauterine growth retardation, Ulnar deviation of finger, Aplasia/Hypoplasi... ORPHA:818
Monosomy 9P
Abnormality of the vertebral column, Proximal placement of thumb, Abnormality of the tarsal bones... ORPHA:261112
Trisomy 1Q
Toe syndactyly, Short thorax, Arachnodactyly, Abnormal rib morphology, Camptodactyly of finger, P... ORPHA:261344
Townes-Brocks Syndrome
Broad hallux phalanx, Toe syndactyly, Triphalangeal thumb, Aplasia/Hypoplasia of the 3rd toe, Abn... ORPHA:857
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Abnormality of the Leydig cells, Testicular atrophy, Cryptorchidism ORPHA:3063
Trisomy 18
Intrauterine growth retardation, Narrow pelvis bone, Deviation of finger, Spina bifida, Abnormal ... ORPHA:3380
Charge Syndrome
Bifid femur, Intrauterine growth retardation, Hemivertebrae, Abnormal rib morphology, Clinodactyl... ORPHA:138
Steinert Myotonic Dystrophy
Testicular atrophy, Non-medullary thyroid carcinoma, Endometrial carcinoma, Secondary hyperparath... ORPHA:273
Cystinosis, Nephropathic
Primary hypothyroidism, Male hypogonadism, Male infertility, Diabetes mellitus, Delayed puberty OMIM:219800
Noonan Syndrome 1
Hypospadias, Patent ductus arteriosus, Hypogonadism, Male infertility, Cryptorchidism OMIM:163950
Ear-Patella-Short Stature Syndrome
Patellar aplasia, Intrauterine growth retardation, Abnormality of epiphysis morphology, Aplastic ... ORPHA:2554
Dextrocardia
Abnormal rib morphology, Congenital hip dislocation ORPHA:1666
Pagod Syndrome
Meningocele, Death in infancy, Abnormal clavicle morphology, Spina bifida, Abnormal rib morphology ORPHA:991
Hereditary Acrokeratotic Poikiloderma
Finger syndactyly, Abnormal rib morphology, Camptodactyly of finger, Abnormal hip bone morphology... ORPHA:2907
Kindler Epidermolysis Bullosa
Dysphagia, Short 5th metacarpal, Finger syndactyly, Abnormal rib morphology, Camptodactyly of fin... ORPHA:2908
Cystic Fibrosis
Male infertility OMIM:219700
Autosomal Recessive Malignant Osteopetrosis
Abnormality of epiphysis morphology, Bowing of the long bones, Abnormality of the metaphysis, Nar... 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.

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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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