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Gene: Rarg MGI:97858

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
retinoic acid receptor, gamma
Synonyms:
RARgamma2,  RAR gamma 2

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Rarg mutations

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

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
22q11 duplication syndrome
Telecanthus DECIPHER:32
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Oculomotor-Levator Synkinesis
Ptosis, Eyelid retraction, Abnormal eyelid morphology OMIM:151610
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Cervical Vertebral Dysplasia
Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis... OMIM:118005
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Congenital ptosis, Posterior fusion of lumbosacral vertebrae OMIM:192800
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Isochromosomy Yp
Male infertility, Azoospermia, Ambiguous genitalia, Decreased testicular size ORPHA:98797
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... ORPHA:2064
Ptosis, Hereditary Congenital 1
Congenital ptosis OMIM:178300
Marcus Gunn Phenomenon
Unilateral ptosis, Congenital ptosis OMIM:154600
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion OMIM:613702
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Isochromosomy Yq
Male infertility, Decreased testicular size, Gonadal tissue inappropriate for external genitalia ... ORPHA:98798
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Antecubital pterygi... OMIM:618469
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
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
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae OMIM:616566
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Autosomal Dominant Spondylocostal Dysostosis
Severe short stature, Hyperlordosis, Short neck, Missing ribs, Abnormal sacrum morphology, Short ... ORPHA:1797
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Fused cervical vertebrae, Abnormal sacrum morphology, Thoracic hemivertebrae, Scoliosis ORPHA:1436
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Spermatogenic Failure, X-Linked, 6
Male infertility, Abnormality of male external genitalia, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Severe short stature, Block vertebrae, Abnormal odontoid process mor... OMIM:277300
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Fused cervical vertebrae, Prominent metopic ridge, Thoracic hemivertebrae, Scoliosis OMIM:309620
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Kyphosis, Hyp... OMIM:609813
Ankylosing Vertebral Hyperostosis With Tylosis
Vertebral hyperostosis OMIM:106400
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Scoliosis, Short neck OMIM:214300
Primary Basilar Invagination
Abnormality of the cervical spine, Abnormal vertebral morphology, Short neck ORPHA:2285
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Vertebral clefting, Hemivertebrae, Rib fusion, Disproportionate short-trunk short sta... OMIM:608681
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Epicanthus, Short stature, Delayed skeletal maturation, Abnormality of the elbow, Abnormal rib mo... ORPHA:3268
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Vertebral Hypoplasia With Lumbar Kyphosis
Vertebral hypoplasia, Lumbar kyphosis OMIM:192900
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Short neck, Missing ribs, Hemivertebrae, Posterior rib fusion, S... OMIM:122600
Femoral-Facial Syndrome
Short stature, Cryptorchidism, Abnormal sacrum morphology, Long penis, Abnormal rib morphology, R... ORPHA:1988
Becker Nevus Syndrome
Supernumerary nipple, Pectus excavatum, Kyphosis, Hypoplastic labia minora, Rib fusion, Pectus ca... ORPHA:64755
Autosomal Recessive Spondylocostal Dysostosis
Rib segmentation abnormalities, Abnormal intervertebral disk morphology, Hypospadias, Short statu... ORPHA:2311
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... OMIM:619949
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Thoracolumbar scoliosis, Short neck, Flexion contracture, Cervical C2/C3 vertebral fusion, Acetab... OMIM:616549
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Short neck, Kyphosis, Abnormal rib morphology, Fused cervical vertebrae, Ptosis ORPHA:2522
Multiple Synostoses Syndrome 2
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... OMIM:610017
Autosomal Recessive Multiple Pterygium Syndrome
Hypoplasia of penis, Small scrotum, Multiple pterygia, Abnormal eyelid morphology, Vertebral segm... ORPHA:2990
Isolated Klippel-Feil Syndrome
Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormality of the vertebral col... ORPHA:2345
Osteoarthritis With Mild Chondrodysplasia
Short stature, Heberden's node, Knee osteoarthritis, Schmorl's node, Irregular vertebral endplate... OMIM:604864
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Short neck, Flexion contracture, Hydrops fetalis, Knee flexion contr... OMIM:265000
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Brachyolmia Type 2
Platyspondyly, Short stature OMIM:613678
Wildervanck Syndrome
Fused cervical vertebrae, Short neck ORPHA:3456
Chromosome 8Q22.1 Duplication Syndrome
Enlarged interphalangeal joints, Genu recurvatum, Interphalangeal joint contracture of finger, Jo... OMIM:151200
Orbital Margin, Hypoplasia Of
Lacrimal duct atresia, Lower eyelid coloboma, Congenital extraocular muscle anomaly OMIM:165600
Acrodysplasia Scoliosis
Vertebral segmentation defect, Spina bifida occulta, Scoliosis ORPHA:2956
Brachydactyly, Type B1
Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Wide anterior fontanel, Hemiverteb... OMIM:113000
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Camptodactyly, Blepharophimosis, Cervical C2/C3 vertebral fusion, Downslanted palpebral fissures,... OMIM:617333
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Thoracic scoliosis, Failure to thrive in infancy, Hypospadias, Kyphoscoliosis, Short ... OMIM:611209
Ring Chromosome Y Syndrome
Male infertility, Bifid scrotum, Ambiguous genitalia, Streak ovary, Unilateral cryptorchidism, Hy... ORPHA:261529
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Severe short stature, Postnatal growth retardation, Platyspondyly, Scoliosis, Genu varum OMIM:618728
Kbg Syndrome
Vertebral fusion, Persistent open anterior fontanelle, Telecanthus, Short stature, Short neck, Cr... ORPHA:2332
Lamb-Shaffer Syndrome
Fused cervical vertebrae, Epicanthus, Thoracic kyphosis, Scoliosis ORPHA:530983
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short stature, Short nec... OMIM:613686
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Vertebral fusion, Ptosis, Hip contracture, Elbow contracture, Multiple pterygia, Short neck, Cran... OMIM:178110
Diaphanospondylodysostosis
Abnormal vertebral segmentation and fusion, Missing ribs, Absent or minimally ossified vertebral ... ORPHA:66637
Spondylosis, Cervical
Spondylolysis, Spina bifida occulta, Cervical spondylosis, Spondylolisthesis OMIM:184300
Poland Syndrome
Rib fusion, Hemivertebrae, Short ribs, Sprengel anomaly OMIM:173800
Cerebrofaciothoracic Dysplasia
Epicanthus, Short stature, Polyhydramnios, Short neck, Synophrys, Hemivertebrae, Rib fusion, Vert... ORPHA:1394
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, P... OMIM:213980
Kniest Dysplasia
Arthropathy, Enlarged joints, Short neck, Joint stiffness, Hypoplasia of the odontoid process, Bi... ORPHA:485
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Sacral dimple, Vertebral segmentation defect OMIM:618845
Spermatogenic Failure 38
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... OMIM:618433
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... OMIM:620356
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Thoracic scoliosis, Short neck, Bilateral ptosis, Facet joint arthrosis, Osteoarthrit... OMIM:618000
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Hypoplasia of penis, Small scrotum, Short stature, Short neck, Hemivertebrae, ... ORPHA:2234
Kbg Syndrome
Vertebral fusion, Telecanthus, Short stature, Short neck, Cryptorchidism, Epispadias, Delayed ske... OMIM:148050
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion, Short palpebral fissure ORPHA:370010
Klippel-Feil Syndrome 1, Autosomal Dominant
Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Abnormal vertebr... OMIM:118100
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Vertebral fusion, Epicanthus, Abnormal cervical curvature, Multiple pterygia, ... OMIM:312150
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia, Eleva... OMIM:620103
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Short stature, Abnormal thorax morphology, Azoospermia, Infertility, Sc... ORPHA:1445
Gorlin Syndrome
Vertebral fusion, Epicanthus, Telecanthus, Hemivertebrae, Vertebral wedging, Scoliosis ORPHA:377
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Stapes Ankylosis With Broad Thumbs And Toes
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger OMIM:184460
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Absent external genitalia, Hemiverte... OMIM:271520
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Vertebral fusion, Epicanthus, Abnormal cervical curvature, Multiple pterygia, ... OMIM:253290
Frontometaphyseal Dysplasia 1
Dislocated radial head, Limited elbow movement, Interphalangeal joint contracture of finger, Ankl... OMIM:305620
Shashi-Pena Syndrome
Epicanthus, Highly arched eyebrow, Accelerated skeletal maturation, Kyphosis, Synophrys, Osteopor... OMIM:617190
Keratoconus Posticus Circumscriptus
Limited elbow extension and supination, Abnormal vertebral segmentation and fusion, Short neck OMIM:244600
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Epicanthus, Elbow dislocation, Kyphosis, Hemivertebrae, Abnormal form of the ve... ORPHA:2916
Fibrodysplasia Ossificans Progressiva
Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ectopic ossificatio... OMIM:135100
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Absent eyebrow, Sacral dimple, Sparse eyelashes, Polyhydramnios, Large for gestational age, Bilat... ORPHA:544488
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Elbow dislocation, Limitation of joint mobility, Abnormal vertebr... ORPHA:90650
Aarskog-Scott Syndrome
Epicanthus, Short stature, Genu recurvatum, Camptodactyly of finger, Short neck, Pectus excavatum... ORPHA:915
Mosaic Trisomy 14
Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Short neck, Cryptorchidism, Abnormal r... ORPHA:1703
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Microphthalmia, Syndromic 3
Vertebral fusion, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypospadias, Miss... OMIM:206900
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Developmental And Speech Delay Due To Sox5 Deficiency
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Scoliosis, Butterfly vertebrae ORPHA:313892
Chromosome 16Q22 Deletion Syndrome
Prominent metopic ridge, Epicanthus, Small for gestational age, Hypospadias, Highly arched eyebro... OMIM:614541
Pontine Tegmental Cap Dysplasia
Rib fusion, Hemivertebrae, Ankle clonus, Scoliosis, Failure to thrive, Ptosis OMIM:614688
Heart Defects-Limb Shortening Syndrome
Mesomelic/rhizomelic limb shortening, Accelerated skeletal maturation, Kyphosis, Disproportionate... ORPHA:1354
Sifrim-Hitz-Weiss Syndrome
Epicanthus, Flat acetabular roof, Upslanted palpebral fissure, Fused cervical vertebrae, Wormian ... OMIM:617159
Robinow Syndrome, Autosomal Recessive 1
Short neck, Hemivertebrae, Clitoral hypoplasia, Thoracic hemivertebrae, Micropenis, Dislocated ra... OMIM:268310
Thakker-Donnai Syndrome
Short neck, Hemivertebrae, Tracheoesophageal fistula, Upslanted palpebral fissure, Long palpebral... ORPHA:1780
Three M Syndrome 1
Joint dislocation, Scapular winging, Thick eyebrow, Small for gestational age, Hypospadias, Short... OMIM:273750
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Osteomyelitis, Osteolysis, Fused cervical vertebrae, Joint swelling, Flaring of rib c... OMIM:612852
Koolen-De Vries Syndrome
Vertebral fusion, Epicanthus, Hypospadias, Short stature, Pectus excavatum, Kyphosis, Cryptorchid... ORPHA:96169
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis OMIM:606612
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Short neck, Pectus carinatum, Vertebral segmentation defect, Hypoplastic fem... ORPHA:1507
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Short stature, Short neck, Abnormal rib morphology, Azoospermia, Vertebral segmentation defect, B... ORPHA:2578
Proximal 16P11.2 Microdeletion Syndrome
Craniosynostosis, Rib fusion, Obesity, Scoliosis, Failure to thrive, Abnormal vertebral morphology ORPHA:261197
Kyphomelic Dysplasia
Anterior rib cupping, Missing ribs, Lateral clavicle hook, Joint stiffness, Short thorax, Disprop... ORPHA:1801
Wolf-Hirschhorn Syndrome
Rib segmentation abnormalities, Sacral dimple, Epicanthus, Hypospadias, Highly arched eyebrow, Ky... ORPHA:280
Koolen-De Vries Syndrome
Vertebral fusion, Sacral dimple, Failure to thrive, Small for gestational age, Eczema, Short stat... OMIM:610443
Juberg-Hayward Syndrome
Abnormal eyebrow morphology, Severe short stature, Hypospadias, Highly arched eyebrow, Abnormalit... ORPHA:2319
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Fused cervical vertebrae, Spina bifida occulta, Tracheoesophageal fistula, Butterfly vertebrae OMIM:619227
Cardiospondylocarpofacial Syndrome
Joint laxity, Epicanthus, Telecanthus, Short stature, Tarsal synostosis, Delayed skeletal maturat... OMIM:157800
Verheij Syndrome
Joint laxity, Vertebral fusion, Small for gestational age, Short stature, Short neck, Hemivertebr... OMIM:615583
Intellectual Developmental Disorder, Autosomal Dominant 52
Cervical C2/C3 vertebral fusion, Synophrys, Lumbar hyperlordosis, Lumbar scoliosis OMIM:617796
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Generalized osteosclerosis, Abnormal rib morphology, Abnormal form of t... ORPHA:2790
Alkaptonuria
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim... OMIM:203500
Lateral Meningocele Syndrome
Vertebral fusion, Telecanthus, Short stature, Short neck, Pectus excavatum, Kyphosis, Cryptorchid... OMIM:130720
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Severe short stature, Camptodactyly of finger, Abnormal ... ORPHA:2635
Larsen Syndrome
Cervical kyphosis, Pectus carinatum, Knee dislocation, Shallow orbits, Spina bifida occulta, Hypo... OMIM:150250
Femoral-Facial Syndrome
Short stature, Limited elbow movement, Missing ribs, Cryptorchidism, Absent vertebra, Hemivertebr... OMIM:134780
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis OMIM:607155
Mosaic Trisomy 20
Vertebral fusion, Kyphosis, Spinal canal stenosis, Upslanted palpebral fissure, Fused cervical ve... ORPHA:1724
Wolf-Hirschhorn Syndrome
Abnormal form of the vertebral bodies, Vertebral fusion, Hypospadias, Short stature, Highly arche... OMIM:194190
Aicardi Syndrome
Block vertebrae, Missing ribs, Precocious puberty, Postnatal growth retardation, Rib fusion, Hemi... OMIM:304050
Metatropic Dysplasia
Enlarged joints, Flexion contracture, Long coccyx, Narrow chest, Flaring of rib cage, Anisospondy... OMIM:156530
Diastrophic Dysplasia
Joint dislocation, Abnormal clavicle morphology, Increased bone mineral density, Camptodactyly of... ORPHA:628
Aicardi Syndrome
Block vertebrae, Missing ribs, Precocious puberty, Rib fusion, Supernumerary ribs, Scoliosis, Bif... ORPHA:50
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... ORPHA:3109
Cog1-Cdg
Osteopenia, Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Short neck, Postnatal g... ORPHA:263508
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the patella, Hip dislocation, Fused cervical vertebrae, Cervical ribs, Pate... ORPHA:3320
Noonan Syndrome 8
Epicanthus, Short stature, Eczema, Polyhydramnios, Large for gestational age, Short neck, Cryptor... OMIM:615355
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Reduced bone mineral density, Abnormal bone ossification, Abnormal vertebral morpholo... ORPHA:93315
Axial Spondylometaphyseal Dysplasia
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Mild postnatal growth retard... ORPHA:168549
Zttk Syndrome
Absent gallbladder, Epicanthus, Broad eyebrow, Short stature, Craniosynostosis, Sparse eyebrow, K... OMIM:617140
Pallister-Hall Syndrome
Thyroid dysgenesis, Short stature, Decreased response to growth hormone stimulation test, Precoci... OMIM:146510
Robinow Syndrome
Fused thoracic vertebrae, Small scrotum, Small for gestational age, External genital hypoplasia, ... ORPHA:97360
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Rhizomelia, Short neck, Abnormal rib morphology, Platyspondyly, Nar... ORPHA:93267
Spermatogenic Failure 14
Male infertility, Azoospermia, Elevated circulating follicle stimulating hormone level, Abnormal ... OMIM:615842
Prune Belly Syndrome
Congenital hip dislocation, Pectus excavatum, Cryptorchidism, Abnormal rib morphology, Decreased ... ORPHA:2970
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, Kyphosis, Disproportio... OMIM:313400
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Male hypogonadism, Hypergonadotropic hypogonadism, Abnormality of the cervical spine, Superior ri... OMIM:307500
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Beaded ribs, Pectus excavatum, Kyphosis, Multiple prenatal fractures, Pectus... OMIM:259440
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Polyhydramnios, Beaded ribs, Short neck, Multiple prenatal fractures, Flexion contrac... OMIM:616897
Multiple Epiphyseal Dysplasia Type 5
Back pain, Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Decrea... ORPHA:93311
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hypoplasia of penis, Hypogonadotropic hypogonadism, Short stature, Hyperlordosis, Delayed skeleta... ORPHA:3068
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Parakeratosis, Biliary hyperplasia, Micropenis, Pancreatic hypoplasia, Cryptorchidism, Fused cerv... ORPHA:83617
Fanconi Anemia, Complementation Group I
Fused cervical vertebrae, Short neck OMIM:609053
Frontometaphyseal Dysplasia
Limitation of movement at ankles, Interphalangeal joint contracture of finger, Limited elbow move... ORPHA:1826
Atelosteogenesis, Type I
11 pairs of ribs, Laryngeal stenosis, Long clavicles, Rhizomelia, Polyhydramnios, Short neck, Tho... OMIM:108720
Basal Cell Nevus Syndrome 1
Vertebral fusion, Ovarian fibroma, Down-sloping shoulders, Kyphoscoliosis, Hemivertebrae, Irregul... OMIM:109400
Arthrogryposis, Distal, Type 2A
Joint dislocation, Polyhydramnios, Short neck, Knee flexion contracture, Spina bifida occulta, Wr... OMIM:193700
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Elbow dislocation, Anterior vertebral fusion, Shoulder dislocation, Radioulnar synostosis, Downsl... OMIM:171480
Baller-Gerold Syndrome
Limited elbow movement, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebral morphology,... OMIM:218600
Caudal Regression Syndrome
Missing ribs, Joint stiffness, Cryptorchidism, Aplasia/Hypoplasia of the sacrum, Hypoplastic vert... ORPHA:3027
Arnold-Chiari Malformation Type I
Stiff neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Anteriorly plac... ORPHA:268882
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Hypoplasia of penis, Short stature, Short neck, Cryptorchidism, Kyphosis, Abnormal rib morphology... ORPHA:3082
1P36 Deletion Syndrome
Hypoplasia of penis, Hypospadias, Short stature, Cryptorchidism, Rib fusion, Spinal canal stenosi... ORPHA:1606
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology, Short stature ORPHA:2435
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Mesomelic Dysplasia, Kantaputra Type
Short stature, Camptodactyly of finger, Tarsal synostosis, Abnormal rib morphology, Vertebral seg... ORPHA:1836
3M Syndrome
Scapular winging, Congenital hip dislocation, Hypospadias, Short stature, Thick eyebrow, Hyperlor... ORPHA:2616
Septopreoptic Holoprosencephaly
Precocious puberty, Anterior hypopituitarism, Abnormal rib morphology, Abnormal vertebral morphology ORPHA:280195
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Epicanthus, Polyhydramnios, Missing ribs, Abnormal rib morphology, Hemivertebrae, Abnormal form o... ORPHA:2759
Axial Mesodermal Dysplasia Spectrum
Abnormality of the knee, Short stature, Short neck, Missing ribs, Abnormal rib morphology, Trache... ORPHA:1834
Frontometaphyseal Dysplasia 2
Hip contracture, Congenital hip dislocation, Elbow contracture, Fused cervical vertebrae, Scolios... OMIM:617137
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Joint laxity, Short stature, Short neck, Multiple joint dislocation, Hip dislocation, Obesity, Th... OMIM:618395
Myhre Syndrome
Vertebral fusion, Small for gestational age, Short stature, Short neck, Pericardial effusion, Cry... OMIM:139210
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoarthritis, Limitation of joint mobility, Abnormal rib morphology, Abnormal carpal morphology... ORPHA:93351
Faciodigitogenital Syndrome, Autosomal Recessive
Vertebral fusion, Down-sloping shoulders, Proportionate short stature, Pectus excavatum, Cryptorc... OMIM:227330
Duane-Radial Ray Syndrome
Epicanthus, Fused cervical vertebrae, Shoulder dislocation, Scoliosis, Spina bifida occulta, Palp... OMIM:607323
Sprengel Deformity
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... OMIM:184400
3Mc Syndrome
Ptosis, Telecanthus, Supernumerary nipple, Hyperlordosis, Bilateral cryptorchidism, Postnatal gro... ORPHA:293843
Lethal Congenital Contracture Syndrome Type 1
Short stature, Recurrent fractures, Polyhydramnios, Short neck, Limitation of joint mobility, Abn... ORPHA:1486
Chops Syndrome
Synophrys, Long eyelashes, Tracheomalacia, Cervical C2/C3 vertebral fusion, Thick eyebrow OMIM:616368
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Short stature OMIM:615925
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Unilateral ptosis, Aplasia/Hypoplasia of the ribs, Thoracic scoliosis, Cervical hemivertebrae, Sh... ORPHA:508498
Renpenning Syndrome
Epicanthus, Severe short stature, Hypospadias, Cachexia, Joint stiffness, Pectus excavatum, Abnor... ORPHA:3242
Spondylocarpotarsal Synostosis Syndrome
Vertebral fusion, Block vertebrae, Tarsal synostosis, Hyperlordosis, Short neck, Hypoplasia of th... OMIM:272460
Thoracolaryngopelvic Dysplasia
Laryngeal stenosis, Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral en... OMIM:187760
9Q21.13 Microdeletion Syndrome
Craniosynostosis, Postnatal growth retardation, Cryptorchidism, Vertebral segmentation defect, Sc... ORPHA:531151
Apert Syndrome
Vertebral segmentation defect, Downslanted palpebral fissures, Cervical C5/C6 vertebrae fusion ORPHA:87
Osteogenesis Imperfecta, Type Ii
Small for gestational age, Nonimmune hydrops fetalis, Recurrent fractures, Beaded ribs, Multiple ... OMIM:166210
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Sparse eyelashes, Kyphoscoliosis, Short neck, Edema, Polyhydramnios, Abnormal thorax ... OMIM:302960
Apert Syndrome
Limited elbow movement, Sagittal craniosynostosis, Craniosynostosis, Delayed epiphyseal ossificat... OMIM:101200
Achondrogenesis Type 1B
Severe short stature, Polyhydramnios, Short neck, Abnormal enchondral ossification, Short thorax,... ORPHA:93298
Pallister-Hall Syndrome
Small scrotum, Large for gestational age, Hemivertebrae, Gonadotropin deficiency, Micropenis, Apl... ORPHA:672
Cole-Carpenter Syndrome 2
Osteopenia, Wide cranial sutures, Short stature, Recurrent fractures, Pectus excavatum, Kyphosis,... OMIM:616294
Marden-Walker Syndrome
Epicanthus, Hypospadias, Short neck, Postnatal growth retardation, Cryptorchidism, Kyphosis, Wide... OMIM:248700
Meier-Gorlin Syndrome 1
Genu recurvatum, Lateral clavicle hook, Flat glenoid fossa, Hemivertebrae, Flexion contracture, P... OMIM:224690
Short Tarsus With Absence Of Lower Eyelashes
Absent lower eyelashes, Hypoplasia of the lower eyelids OMIM:600269
Laryngotracheoesophageal Cleft Type 4
Cachexia, Abnormal rib morphology, Tracheoesophageal fistula, Abnormal form of the vertebral bodi... ORPHA:93941
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Hypoplastic scapulae, Short neck, Kyphosis, Hemivertebrae, Uterus d... ORPHA:958
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Short stature, Abnormal rib morphology, Hypoplasia of the uterus, Azoospermia, Abnormality of the... OMIM:601076
Otopalatodigital Syndrome Type 2
Carpal synostosis, Increased bone mineral density, Hypospadias, Tarsal synostosis, Camptodactyly ... ORPHA:90652
Chromosome 1P36 Deletion Syndrome, Distal
11 pairs of ribs, Epicanthus, Abnormal external genitalia, Hypospadias, Camptodactyly of finger, ... OMIM:607872
Chromosome 16P13.3 Duplication Syndrome
Sacral dimple, Epicanthus, Short neck, Synophrys, Tracheobronchomalacia, Hip dislocation, Cervica... OMIM:613458
Phaver Syndrome
Epicanthus, Camptodactyly of finger, Joint stiffness, Abnormal rib morphology, Abnormal form of t... ORPHA:2876
Alagille Syndrome
Cryptorchidism, Delayed skeletal maturation, Spina bifida occulta, Abnormal rib morphology, Abnor... ORPHA:52
Lethal Kniest-Like Dysplasia
Anterior rib cupping, Edema, Short neck, Polyhydramnios, Mesomelic/rhizomelic limb shortening, Wi... ORPHA:2347
Partial Androgen Insensitivity Syndrome
Male infertility, Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Elevated ... ORPHA:90797
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Polyhydramnios, Lateral clavicle hook, Cryptorchidism, Obesity, Bell-shaped thorax, Thoracic dysp... OMIM:615633
Vacterl/Vater Association
Bifid scrotum, Hypoplasia of penis, Abnormal intervertebral disk morphology, Hypospadias, Polyhyd... ORPHA:887
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplasia of penis, Recurrent fractures, Cryptorchidism, Abnormal rib morphology, Joint hyperfle... ORPHA:2772
Osteogenesis Imperfecta, Type Xv
Short stature, Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fra... OMIM:615220
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Epicanthus, Lumbar hyperlordosis, Failure to thrive in infancy, Kyphoscoliosi... ORPHA:500150
Fibrochondrogenesis
Hypoplastic scapulae, Short stature, Camptodactyly of finger, Short neck, Wide anterior fontanel,... ORPHA:2021
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal rib morphology, Hemivertebrae, Obesity, Abnormal form of the vertebral bodies, Scoliosis... ORPHA:2180
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Lumbar hyperlordosis, Cupped ribs, Disproportionate short stature, Flat acetabular roof, Irregula... OMIM:609616
White Forelock With Malformations
Epicanthus, Delayed skeletal maturation, Abnormal rib morphology, Joint hyperflexibility, Sprenge... ORPHA:2475
Brachytelephalangic Chondrodysplasia Punctata
Cervical kyphosis, Hypoplastic cervical vertebrae, Vertebral hypoplasia, Calcaneal epiphyseal sti... ORPHA:79345
Osteogenesis Imperfecta, Type Iii
Recurrent fractures, Protrusio acetabuli, Severe generalized osteoporosis, Multiple prenatal frac... OMIM:259420
3Mc Syndrome 2
Ptosis, Hypospadias, Limited elbow movement, Craniosynostosis, Postnatal growth retardation, Cryp... OMIM:265050
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Short neck, Pectus carinatum, Broad ribs, Rhizomelia, Hypoplasia of the... ORPHA:239
Trisomy 13
Abnormal eyelash morphology, Kyphosis, Cryptorchidism, Abnormal rib morphology, Hydrops fetalis, ... ORPHA:3378
Sillence Syndrome
Back pain, Epicanthus, Slender build, Flat acetabular roof, Platyspondyly, Scoliosis, Camptodacty... ORPHA:3168
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Multiple rib fractures, Small for gestational age, Short stature, Rhizomelia, Beaded ... OMIM:616229
Cole-Carpenter Syndrome
Short stature, Recurrent fractures, Kyphosis, Abnormal rib morphology, Abnormal form of the verte... ORPHA:2050
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Postnatal growth retardation, Cupped ribs, P... OMIM:608940
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Hypospadias, Abnormal rib morphology, Upslanted palpebral fissure, ... ORPHA:276422
Schwartz-Jampel Syndrome
Polyhydramnios, Short neck, Pectus carinatum, Wrist flexion contracture, Abnormally ossified vert... ORPHA:800
Dyggve-Melchior-Clausen Disease
Short neck, Flat glenoid fossa, Pectus carinatum, Thoracic kyphosis, Multicentric ossification of... OMIM:223800
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Rhizomelia, Short stature, Thin ribs, Hyperkeratosis, Platyspondyly, Intrauterine growth retardation ORPHA:163966
Mucopolysaccharidosis Type 4
Joint dislocation, Short stature, Hyperlordosis, Short neck, Kyphosis, Delayed skeletal maturatio... ORPHA:582
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... ORPHA:251510
Mucopolysaccharidosis, Type Iva
Joint laxity, Ulnar deviation of the wrist, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hy... OMIM:253000
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Epicanthus, Short stature, Polyhydramnios, Hydrometrocolpos, Aplasia of the epiglottis, Short rib... OMIM:617088
Duane Retraction Syndrome
Short neck, Spina bifida occulta, Abnormal form of the vertebral bodies, Blepharospasm, Camptodac... ORPHA:233
Simpson-Golabi-Behmel Syndrome
Vertebral fusion, Hypoplasia of penis, Congenital hip dislocation, Hypospadias, Camptodactyly of ... ORPHA:373
Postaxial Acrofacial Dysostosis
Congenital hip dislocation, Supernumerary nipple, Pectus excavatum, Cryptorchidism, Postnatal gro... OMIM:263750
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Disc-like vertebral bodies, Rhizomelia, Ovoid vertebral bodies, Polyhydramnios, Short neck, Flat ... OMIM:151210
Cenani-Lenz Syndrome
Ptosis, Ectropion, Elbow dislocation, Abnormal rib morphology, Hip dislocation, Abnormal form of ... ORPHA:3258
Mosaic Trisomy 8
Short stature, Camptodactyly of finger, Short neck, Cryptorchidism, Limitation of joint mobility,... ORPHA:96061
Multiple Pterygium-Malignant Hyperthermia Syndrome
Prominent metopic ridge, Small scrotum, Severe short stature, Camptodactyly of finger, Polyhydram... ORPHA:2215
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... ORPHA:99429
Lenz-Majewski Hyperostotic Dwarfism
Hyperextensibility of the finger joints, Anterior pituitary hypoplasia, Hemivertebrae, Knee flexi... OMIM:151050
Ritscher-Schinzel Syndrome 3
Highly arched eyebrow, Postnatal growth retardation, Cryptorchidism, Wide anterior fontanel, Poor... OMIM:619135
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Polyhydramnios, Missing ribs, Cryptorchidism, Abnormal rib morphol... ORPHA:3301
Fibrochondrogenesis 1
Hypoplastic scapulae, Long clavicles, Anterior rib cupping, Rhizomelia, Short neck, Widely patent... OMIM:228520
Grant Syndrome
Joint dislocation, Short stature, Abnormal rib morphology, Decreased skull ossification, Joint hy... ORPHA:2097
Acro-Renal-Ocular Syndrome
Vertebral fusion, Epicanthus, Vertebral segmentation defect, Short palpebral fissure, Ptosis ORPHA:959
Shprintzen-Goldberg Craniosynostosis Syndrome
Osteopenia, Genu recurvatum, Lateral clavicle hook, Pectus carinatum, Shallow orbits, Dislocated ... OMIM:182212
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Postnatal growth retardation, Abnormal thorax morphology, Abnormal form of the vertebral bodies, ... ORPHA:73230
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Wormian bones, Highly arched eyebrow, Synophrys, Long eyelashes, Downslanted palpebral fissures, ... ORPHA:444077
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Melnick-Needles Syndrome
Short stature, Delayed cranial suture closure, Short thorax, Abnormal rib morphology, Hip disloca... ORPHA:2484
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Adrenal hyperplasia, Flexion contracture, Abnormal ovarian morphology, Narrow... ORPHA:95699
Autosomal Dominant Popliteal Pterygium Syndrome
Bifid scrotum, Small scrotum, Joint stiffness, Cryptorchidism, Abnormal rib morphology, Ankyloble... ORPHA:1300
Thrombocytopenia-Absent Radius Syndrome
Ptosis, Patellar aplasia, Hip dislocation, Fused cervical vertebrae, Cervical ribs, Patellar disl... OMIM:274000
Achondrogenesis, Type Ia
Barrel-shaped chest, Hypoplastic sacrum, Hypoplastic scapulae, Polyhydramnios, Beaded ribs, Short... OMIM:200600
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hypospadias, Nonimmune hydrops fetalis, Polyhydramnios, Tracheoesophageal fistula, Pleural effusi... OMIM:265380
Cooper-Jabs Syndrome
Short stature, Camptodactyly of finger, Missing ribs, Abnormal rib morphology, Reduced bone miner... ORPHA:1488
Campomelia, Cumming Type
Abnormally ossified vertebrae, Lymphedema, Pancreatic cysts, Abnormal thorax morphology, Abnormal... ORPHA:1318
Greenberg Dysplasia
Polyhydramnios, Beaded ribs, Multiple prenatal fractures, Patchy variation in bone mineral densit... OMIM:215140
Cartilage-Hair Hypoplasia
Short neck, Accelerated skeletal maturation, Abnormal form of the vertebral bodies, Pectus carina... ORPHA:175
Myhre Syndrome
Abnormal penis morphology, Severe short stature, Hypospadias, External genital hypoplasia, Joint ... ORPHA:2588
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Recurrent fractures, Joint hypermobility, Thin ribs, Long eyelashes, Biconcave vert... OMIM:617952
Acrorenal-Mandibular Syndrome
Epicanthus, Absent nipple, Hypoplastic scapulae, Kyphoscoliosis, Missing ribs, Hemivertebrae, Ute... OMIM:200980
3Mc Syndrome 1
Conjunctival telangiectasia, Ptosis, Sacral dimple, Telecanthus, Supernumerary nipple, Highly arc... OMIM:257920
Mucopolysaccharidosis, Type X
Irregular acetabular roof, Spatulate ribs, Hyperlordosis, Broad clavicles, Disproportionate short... OMIM:619698
Osteogenesis Imperfecta, Type X
Osteopenia, Multiple rib fractures, Thoracic scoliosis, Joint laxity, Short stature, Rhizomelia, ... OMIM:613848
Craniodiaphyseal Dysplasia
Abnormal rib morphology, Short stature ORPHA:1513
Cantú Syndrome
Epicanthus, Ovoid vertebral bodies, Curly eyelashes, Short neck, Accelerated skeletal maturation,... ORPHA:1517
Achondrogenesis, Type Ii
Barrel-shaped chest, Absent vertebral body mineralization, Polyhydramnios, Edema, Disproportionat... OMIM:200610
Holt-Oram Syndrome
Abnormal clavicle morphology, Down-sloping shoulders, Joint stiffness, Pectus excavatum, Kyphosis... ORPHA:392
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis ORPHA:2239
Restrictive Dermopathy
Osteopenia, Multiple joint contractures, Polyhydramnios, Scaling skin, Decreased skull ossificati... ORPHA:1662
Noonan Syndrome 1
Short neck, Lymphedema, Abnormal sternum morphology, Male infertility, Hypospadias, Short stature... OMIM:163950
Bent Bone Dysplasia Syndrome 2
Osteopenia, Short neck, Thin ribs, Coronal cleft vertebrae, Platyspondyly, Decreased calvarial os... OMIM:620076
Maternal Uniparental Disomy Of Chromosome 2
Premature ovarian insufficiency, Hypospadias, Decreased response to growth hormone stimulation te... ORPHA:96179
Craniometadiaphyseal Dysplasia
Osteopenia, Short stature, Cubitus valgus, Wide anterior fontanel, Genu valgum, Sclerosis of skul... OMIM:269300
Nestor-Guillermo Progeria Syndrome
Wide cranial sutures, Short stature, Sparse eyelashes, Limited elbow movement, Delayed closure of... OMIM:614008
Poland Syndrome
Hypospadias, Aplasia/Hypoplasia of the sternum, Short neck, Missing ribs, Kyphosis, Cryptorchidis... ORPHA:2911
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Upslanted palpebral fissure, Intrauterine growth retardation, Abnormally ossified vertebrae, Abno... ORPHA:3035
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Joint laxity, Epicanthus, Short stature, Polyhydramnios, Lymphedema, Short neck, Cryptorchidism, ... OMIM:613563
Microcephalic Primordial Dwarfism, Toriello Type
Severe short stature, Delayed skeletal maturation, Abnormal rib morphology, Intrauterine growth r... ORPHA:2643
Atypical Werner Syndrome
Sclerosis of hand bone, Reduced bone mineral density, Increased bone mineral density, Premature o... ORPHA:79474
Classic Galactosemia
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism... ORPHA:79239
Cat-Eye Syndrome
Downslanted palpebral fissures, Intrauterine growth retardation, Abnormal rib morphology, Short s... ORPHA:195
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Delayed closure of the anterior fontanell... OMIM:224300
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Wide anterior fontanel, Vertebral arch anomaly, Wormi... ORPHA:85184
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male infertility, Bifid scrotum, Hypospadias, Precocious puberty in females, Elevated circulating... ORPHA:90793
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Epicanthus, Redundant neck skin, Supernumerary nipple, Cryptorchidism, Abnormal rib morphology, A... ORPHA:2519
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Holzgreve Syndrome
Abnormally ossified vertebrae, Joint stiffness, Abnormal rib morphology, Intrauterine growth reta... ORPHA:2167
Osteogenesis Imperfecta, Type Viii
Barrel-shaped chest, Osteopenia, Joint laxity, Recurrent fractures, Multiple prenatal fractures, ... OMIM:610915
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Monosomy 9Q22.3
Epicanthus, Ovarian fibroma, Large for gestational age, Short neck, Kyphosis, Pectus excavatum, A... ORPHA:77301
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Redundant neck skin, External genital hypoplasia, Polyhydramnios, Short neck, Large for gestation... ORPHA:96334
Lethal Congenital Contracture Syndrome 10
Thoracic scoliosis, Stiff neck, Short neck, Hydrops fetalis, Hypoplasia of the thymus, Narrow che... OMIM:617022
Fetal Akinesia Deformation Sequence 1
Hip contracture, Telecanthus, Small for gestational age, Nonimmune hydrops fetalis, Polyhydramnio... OMIM:208150
Hypophosphatasia
Failure to thrive in infancy, Recurrent fractures, Short stature, Craniosynostosis, Abnormal rib ... ORPHA:436
Trisomy 1Q
Small scrotum, Camptodactyly of finger, Polyhydramnios, Cryptorchidism, Increased nuchal transluc... ORPHA:261344
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Osteopenia, Joint dislocation, Joint laxity, Congenital hip dislocation, Epicanthus, Protrusio ac... OMIM:225400
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Elsahy-Waters Syndrome
Cervical C2/C3 vertebral fusion, Synophrys, Downslanted palpebral fissures, Thick eyebrow OMIM:211380
Monosomy 9P
Epicanthus, Hypospadias, Highly arched eyebrow, Short neck, Blepharophimosis, Cryptorchidism, Syn... ORPHA:261112
Jeune Syndrome
Abnormal clavicle morphology, Short stature, Short thorax, Abnormal rib morphology, Abnormal ster... ORPHA:474
Cleidocranial Dysplasia
Hypoplastic scapulae, Short stature, Down-sloping shoulders, Recurrent fractures, Abnormal sacrum... ORPHA:1452
Campomelic Dysplasia
Thoracic scoliosis, Cervical kyphosis, Polyhydramnios, Delayed epiphyseal ossification, Patellar ... OMIM:114290
Hurler Syndrome
Abnormal clavicle morphology, Short stature, Camptodactyly of finger, Short neck, Limitation of j... ORPHA:93473
Craniosynostosis, Herrmann-Opitz Type
Short stature, Craniosynostosis, Abnormal rib morphology, Intrauterine growth retardation, Oligoh... ORPHA:2145
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Precocious puberty in females, Short stature, Testicular neoplasm, ... ORPHA:249
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Joint dislocation, Rhizomelia, Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Th... OMIM:618019
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib m... ORPHA:2769
Schinzel-Giedion Midface Retraction Syndrome
Small scrotum, Increased density of long bones, Short neck, Hypoplasia of first ribs, Shallow orb... OMIM:269150
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Telecanthus, Symblepharon, Short neck, Delayed skeletal maturation, Abnormal rib morp... ORPHA:488434
Hereditary Acrokeratotic Poikiloderma
Short stature, Eczema, Camptodactyly of finger, Abnormal preputium morphology, Pustule, Erythema,... ORPHA:2907
Orofaciodigital Syndrome Type 14
Telecanthus, Short neck, Bilateral cryptorchidism, Epispadias, Aplasia of the epiglottis, Upslant... ORPHA:434179
Radio-Renal Syndrome
Severe short stature, Short neck, Abnormality of the elbow, Abnormal rib morphology, Abnormal for... ORPHA:3015
Oculocerebrocutaneous Syndrome
Congenital hip dislocation, Missing ribs, Cryptorchidism, Abnormal rib morphology, Eyelid colobom... ORPHA:1647
Osteogenesis Imperfecta
Osteopenia, Cervical kyphosis, Osteoarthritis, Flexion contracture, Bone pain, Abnormal form of t... ORPHA:666
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Vertebral segmentation defect, Abnormal rib morphology ORPHA:1120
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Polyhydramnios, Short neck, Abnormal form of the vertebral bodies, Hypospadi... ORPHA:818
Orofaciodigital Syndrome Xiv
Telecanthus, Cryptorchidism, Epispadias, Aplasia of the epiglottis, Upslanted palpebral fissure, ... OMIM:615948
Aspergillosis
Osteomyelitis, Dacryocystitis, Abnormal rib morphology, Abnormality of the vertebral column, Pleu... ORPHA:1163
Loeys-Dietz Syndrome 6
Knee osteoarthritis, Scoliosis, Hip osteoarthritis, Striae distensae, Intervertebral disc degener... OMIM:619656
Aromatase Deficiency
Eunuchoid habitus, Male infertility, Macroorchidism, postpubertal, Osteopenia, Hypergonadotropic ... ORPHA:91
Charge Syndrome
Bifid scrotum, Polyhydramnios, Hemivertebrae, Eyelid coloboma, Abnormality of bone mineral densit... ORPHA:138
Occipital Horn Syndrome
Joint laxity, Persistent open anterior fontanelle, Redundant skin, Broad clavicles, Pectus excava... OMIM:304150
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pancreatic fibrosis, Lateral clavicle hook, Hydrops fetalis, Pectus carinatum, Platyspondyly, Tho... OMIM:263520
Ulbright-Hodes Syndrome
Abnormal penis morphology, Abnormal external genitalia, Enlarged labia minora, Short neck, Postna... ORPHA:3404
Ear-Patella-Short Stature Syndrome
Hypoplasia of penis, Epispadias, Clitoral hypoplasia, Hypospadias, Aplastic clavicle, Cryptorchid... ORPHA:2554
Osteogenesis Imperfecta, Type Vii
Osteopenia, Multiple rib fractures, Wide cranial sutures, Short stature, Rhizomelia, Recurrent fr... OMIM:610682
Cerebrocostomandibular Syndrome
Rib gap, 10 pairs of ribs, 11 pairs of ribs, Congenital hip dislocation, Anomalous rib insertion ... OMIM:117650
X-Linked Hypophosphatemia
Craniosynostosis, Beaded ribs, Enlargement of the costochondral junction, Sacroiliac joint synovi... ORPHA:89936
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Short neck, Hemivertebrae, Pectus carinatum, Anteriorly displaced genitalia, Broad... OMIM:276820
Vater/Vacterl Association
Laryngeal stenosis, Hypospadias, Postnatal growth retardation, Abnormal rib morphology, Tracheoes... OMIM:192350
Generalized Arterial Calcification Of Infancy
Abnormality of the knee, Calcification of the auricular cartilage, Osteomalacia, Abnormal calcifi... ORPHA:51608
Aneurysm-Osteoarthritis Syndrome
Joint laxity, Osteoarthritis of the small joints of the hand, Protrusio acetabuli, Camptodactyly ... ORPHA:284984
Antley-Bixler Syndrome
Recurrent fractures, Craniosynostosis, Joint stiffness, Camptodactyly of finger, Abnormal rib mor... ORPHA:83
Spondylometaphyseal Dysplasia, Sedaghatian Type
Abnormal scapula morphology, Accelerated skeletal maturation, Delayed skeletal maturation, Dispro... ORPHA:93317
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile sperm OMIM:614874
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology, Joint hypermo... OMIM:602196
Kindler Epidermolysis Bullosa
Laryngeal stenosis, Recurrent skin infections, Camptodactyly of finger, Phimosis, Erythema, Abnor... ORPHA:2908
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Kyphomelic Dysplasia
Anterior rib cupping, Lateral clavicle hook, Disproportionate short stature, Limitation of joint ... OMIM:211350
Trisomy 18
Epicanthus, Short stature, Camptodactyly of finger, Cachexia, Cryptorchidism, Delayed skeletal ma... ORPHA:3380
Ciliary Dyskinesia, Primary, 14
Male infertility, Reduced sperm motility, Immotile sperm OMIM:613807
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Dehydration, Short stature, Osteomalacia, Cryptorchidism, Abnormal rib morph... ORPHA:534
Pyknoachondrogenesis
Abnormal intramembranous ossification, Palpebral edema, Short thorax, Poorly ossified vertebrae, ... ORPHA:3003
Digeorge Syndrome
Pilonidal sinus, Parathyroid agenesis, Acne, Short stature, Seborrheic dermatitis, Obesity, Parat... OMIM:188400
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Intrauterine growth retardation, Abnormal rib morphology ORPHA:1506
Robin Sequence With Cleft Mandible And Limb Anomalies
Short stature, 4-5 metacarpal synostosis, Hip dislocation, Aplasia of the epiglottis, Acetabular ... OMIM:268305
Heterotaxy, Visceral, 1, X-Linked
Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Polyhydramnios, Failure to th... OMIM:306955
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Short stature, Blepharoph... ORPHA:857
Craniofacial Microsomia 1
Ptosis, Block vertebrae, Blepharophimosis, Hemivertebrae, Upper eyelid coloboma, Genu valgum, Cer... OMIM:164210
Loeys-Dietz Syndrome 3
Joint laxity, Dermal translucency, Protrusio acetabuli, Craniosynostosis, Osteoarthritis, Cystoce... OMIM:613795
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Weight loss, Oligozoospermia, Hypogonadism, Abnorma... ORPHA:85450
Ciliary Dyskinesia, Primary, 19
Male infertility OMIM:614935
Mucopolysaccharidosis Type 3
Abnormal clavicle morphology, Joint stiffness, Avascular necrosis of the capital femoral epiphysi... ORPHA:581
Charge Syndrome
Decreased response to growth hormone stimulation test, External genital hypoplasia, Polyhydramnio... OMIM:214800
Fanconi Anemia, Complementation Group A
Male infertility, Small for gestational age, Hypergonadotropic hypogonadism, Anemic pallor, Short... OMIM:227650
Bloom Syndrome
Male infertility, Premature ovarian insufficiency, Small for gestational age, Skin rash, Sparse e... ORPHA:125
Thoracic Outlet Syndrome
Abnormal rib morphology, Edema ORPHA:97330
Alagille Syndrome 1
Abnormal rib morphology, Hemivertebrae, Upslanted palpebral fissure, Failure to thrive, Butterfly... OMIM:118450
Dextrocardia
Abnormal reproductive system morphology, Pancreatic hypoplasia, Abnormal rib morphology, Congenit... ORPHA:1666
Cystinosis, Nephropathic
Male infertility, Failure to thrive in infancy, Short stature, Delayed skeletal maturation, Ricke... OMIM:219800
Pagod Syndrome
Abnormal clavicle morphology, Short stature, Abnormal rib morphology, Agonadism, Abnormality of t... ORPHA:991
Autosomal Recessive Malignant Osteopetrosis
Recurrent fractures, Craniosynostosis, Bone pain, Abnormal rib morphology, Reduced bone mineral d... ORPHA:667

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 Rarg

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 Rarg.

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

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Rargtm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Rargtm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Rargtm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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