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

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 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
Setting-Sun Phenomenon, Familial Benign
Upper eyelid retraction OMIM:600598
22q11 duplication syndrome
Telecanthus DECIPHER:32
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Abnormal vertebral morphology OMIM:615709
Oculomotor-Levator Synkinesis
Abnormal eyelid morphology, Eyelid retraction, Ptosis OMIM:151610
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testicular size OMIM:619145
Partial Chromosome Y Deletion
Cryptorchidism, Abnormal spermatogenesis, Non-obstructive azoospermia, Oligospermia, Male inferti... ORPHA:1646
Spermatogenic Failure 63
Oligospermia, Decreased testicular size, Male infertility, Reduced progressive sperm motility OMIM:619689
Cervical Vertebral Dysplasia
Anterior atlanto-occipital dislocation, Cervical vertebral dysplasia, Cervical vertebral facet hy... OMIM:118005
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Spermatogenic Failure 62
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619672
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae, Congenital ptosis OMIM:192800
Isochromosomy Yp
Azoospermia, Ambiguous genitalia, Male infertility, Decreased testicular size ORPHA:98797
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism, Abnormality of male internal genitalia OMIM:261550
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Abnormal form of the vertebral bodies, Joint stiffness, Ptosis, Tarsal synostosis,... ORPHA:2064
Ptosis, Hereditary Congenital 1
Congenital ptosis OMIM:178300
Marcus Gunn Phenomenon
Unilateral ptosis, Congenital ptosis OMIM:154600
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Male infertility, Coiled sperm ... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619094
Fibrosis Of Extraocular Muscles, Congenital, 5
Ptosis OMIM:616219
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 46
Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Short sperm flagella, Coi... OMIM:619095
Spermatogenic Failure 48
Azoospermia, Oligospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619108
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Isochromosomy Yq
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicocele, Azoospermia, ... ORPHA:98798
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:619102
Spermatogenic Failure 58
Irregularly shaped sperm tail, Oligospermia, Male infertility, Short sperm flagella, Immotile spe... OMIM:619585
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm, Coil... OMIM:618664
Spermatogenic Failure, X-Linked, 3
Irregularly shaped sperm tail, Absent sperm flagella, Oligospermia, Male infertility, Short sperm... OMIM:301059
Spermatogenic Failure 56
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Oligospermia, Male ... OMIM:619515
Spermatogenic Failure 41
Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligospermia, Male infertility, Reduc... ORPHA:529970
Spermatogenic Failure 65
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Abnormal sperm mid-... OMIM:619712
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion OMIM:613702
Spermatogenic Failure 64
Oligospermia, Abnormal sperm head morphology, Male infertility, Reduced progressive sperm motility OMIM:619696
Spermatogenic Failure 42
Microcephalic sperm head, Absent sperm flagella, Tapered sperm head, Male infertility, Short sper... OMIM:618745
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, ... OMIM:618643
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure 54
Tapered sperm head, Oligospermia, Male infertility, Abnormal sperm axoneme morphology, Cryptozoos... OMIM:619379
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Short neck, Flexion contracture, Antecubital pterygium, Fused thoracic vertebrae, Scoliosis, Fuse... OMIM:618469
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Spermatogenic Failure, X-Linked, 2
Azoospermia, Male infertility, Testicular atrophy OMIM:309120
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Scoliosis, Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae OMIM:616566
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Spondylocostal Dysostosis 1, Autosomal Recessive
Block vertebrae, Short neck, Back pain, Vertebral fusion, Abnormality of the odontoid process, Ky... OMIM:277300
Autosomal Dominant Spondylocostal Dysostosis
Abnormal sacrum morphology, Upslanted palpebral fissure, Missing ribs, Short neck, Short thorax, ... ORPHA:1797
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Abnormal sacrum morphology, Scoliosis, Thoracic hemivertebrae, Fused cervical vertebrae ORPHA:1436
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Cervical vertebral bodies with decreased anteroposterior diameter, Widening of cervical spinal ca... OMIM:606842
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Thoracic hemivertebrae, Prominent metopic ridge, Fused cervical vertebrae, Scoliosis OMIM:309620
Spermatogenic Failure 18
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617576
Spermatogenic Failure 20
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617593
Spermatogenic Failure 19
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617592
Spermatogenic Failure 35
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618153
Ankylosing Vertebral Hyperostosis With Tylosis
Vertebral hyperostosis OMIM:106400
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Scoliosis, Short neck, Fused cervical vertebrae OMIM:214300
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Male infertility, Obstructive azoospermia OMIM:301060
Kbg Syndrome
Thoracic kyphosis, Cervical ribs, Cryptorchidism, Thick eyebrow, Long palpebral fissure, Short st... OMIM:148050
Spondylocostal Dysostosis 4, Autosomal Recessive
Block vertebrae, Missing ribs, Short thorax, Abnormal rib morphology, Short stature, Vertebral fu... OMIM:613686
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Hypoplasia of the odontoid process, Supernumerary vertebral ossification centers, Scoli... OMIM:609813
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral clefting, Short neck, Disproportionate short-trunk short stature, Vertebral segmentatio... OMIM:608681
Asymmetric Short Stature Syndrome
Fused cervical vertebrae, Lumbar scoliosis OMIM:108450
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Thick eyebrow, Abnormal rib morphology, Radioulnar synostosis, Scoliosis, Short stature, Synophry... ORPHA:3268
Primary Basilar Invagination
Short neck, Abnormal vertebral morphology, Abnormality of the cervical spine ORPHA:2285
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Vertebral Hypoplasia With Lumbar Kyphosis
Vertebral hypoplasia, Lumbar kyphosis OMIM:192900
Cardiospondylocarpofacial Syndrome
Upslanted palpebral fissure, Carpal synostosis, Joint laxity, Scoliosis, Failure to thrive, Short... OMIM:157800
Femoral-Facial Syndrome
Abnormal sacrum morphology, Upslanted palpebral fissure, Cryptorchidism, Long penis, Abnormal rib... ORPHA:1988
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spondylocostal Dysostosis 5
Missing ribs, Short neck, Supernumerary ribs, Posterior rib fusion, Scoliosis, Low back pain, Ver... OMIM:122600
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 6
Decreased acrosin in sperm head, Male infertility, Globozoospermia OMIM:102530
Autosomal Recessive Spondylocostal Dysostosis
Kyphosis, Short neck, Abnormal form of the vertebral bodies, Short thorax, Abnormal morphology of... ORPHA:2311
Phosphoserine Phosphatase Deficiency
Postnatal growth retardation, Intrauterine growth retardation OMIM:614023
Osteoarthritis With Mild Chondrodysplasia
Heberden's node, Hip osteoarthritis, Knee osteoarthritis, Beaking of vertebral bodies, Platyspond... OMIM:604864
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Kyphosis, Short neck, Hyperlordosis, Ptosis, Abnormal rib morphology, Fused cervical vertebrae ORPHA:2522
Multiple Synostoses Syndrome 2
Carpal synostosis, Finger symphalangism, Proximal symphalangism, Vertebral fusion, Humeroradial s... OMIM:610017
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Carpal synostosis, Craniosynostosis, Short neck, Elbow flexion contracture, Ptosis, Knee flexion ... OMIM:178110
Osteomesopyknosis
Scoliosis, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2777
Becker Nevus Syndrome
Supernumerary ribs, Kyphosis, Hypoplastic labia minora, Supernumerary nipple, Pectus excavatum, S... ORPHA:64755
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Cervical C2/C3 vertebral fusion, Flexion contracture, Short neck, Thoracolumbar scoliosis, Ptosis... OMIM:616549
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral segmentation defect, Supernumerary ribs, Vertebral fusion OMIM:221950
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Spermatogenic Failure 22
Azoospermia, Infertility OMIM:617706
Autosomal Recessive Multiple Pterygium Syndrome
Pterygium, Cryptorchidism, Ptosis, Scoliosis, Arthrogryposis multiplex congenita, Epicanthus, Tel... ORPHA:2990
Brachyolmia Type 2
Short stature, Platyspondyly OMIM:613678
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Abnormal sacrum morphology, Cervical C2/C3 vertebral fusion,... ORPHA:2345
Ring Chromosome Y Syndrome
Abnormality of the female genitalia, Unilateral cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:261529
Wildervanck Syndrome
Short neck, Fused cervical vertebrae ORPHA:3456
Chromosome 8Q22.1 Duplication Syndrome
Cervical C2/C3 vertebral fusion, Upslanted palpebral fissure, Short palpebral fissure, Joint stif... OMIM:151200
Orbital Margin, Hypoplasia Of
Lacrimal duct atresia, Lower eyelid coloboma, Congenital extraocular muscle anomaly OMIM:165600
Multiple Pterygium Syndrome, Escobar Variant
Cryptorchidism, Ptosis, Scoliosis, Dysplastic patella, Camptodactyly of toe, Arthrogryposis multi... OMIM:265000
Acrodysplasia Scoliosis
Spina bifida occulta, Vertebral segmentation defect, Scoliosis ORPHA:2956
Brachydactyly, Type B1
Hypoplastic sacrum, Thoracolumbar scoliosis, Wide anterior fontanel, Vertebral fusion, Delayed cr... OMIM:113000
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Genu varum, Severe short stature, Platyspondyly, Scoliosis, Postnatal growth retardation OMIM:618728
Kbg Syndrome
Thoracic kyphosis, Short neck, Cervical ribs, Cryptorchidism, Thick eyebrow, Persistent open ante... ORPHA:2332
Spermatogenic Failure 38
Absent sperm flagella, Tapered sperm head, Oligospermia, Abnormal sperm head morphology, Male inf... OMIM:618433
Lamb-Shaffer Syndrome
Epicanthus, Scoliosis, Thoracic kyphosis, Fused cervical vertebrae ORPHA:530983
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome
Upslanted palpebral fissure, Thick eyebrow, Ptosis, Highly arched eyebrow, Bifid ribs, Scoliosis,... OMIM:213980
Spondylosis, Cervical
Spina bifida occulta, Spondylolysis, Spondylolisthesis, Cervical spondylosis OMIM:184300
Poland Syndrome
Short ribs, Sprengel anomaly, Hemivertebrae, Rib fusion OMIM:173800
Kniest Dysplasia
Coronal cleft vertebrae, Enlarged joints, Short neck, Joint stiffness, Abnormal cartilage collage... ORPHA:485
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Decreased fertility, Small scrotum, Short neck, Abnormal form of the vertebral bodies, Abnormalit... ORPHA:2234
Cerebrofaciothoracic Dysplasia
Short neck, Thick eyebrow, Downslanted palpebral fissures, Bifid ribs, Scoliosis, Short stature, ... ORPHA:1394
Spinocerebellar Ataxia Type 32
Azoospermia, Male infertility, Testicular atrophy ORPHA:276183
Diaphanospondylodysostosis
Missing ribs, Abnormal vertebral segmentation and fusion, Absent or minimally ossified vertebral ... ORPHA:66637
Frontometaphyseal Dysplasia 1
Increased density of long bone diaphyses, Partial fusion of tarsals, Elbow flexion contracture, C... OMIM:305620
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia ORPHA:48
Familial Male-Limited Precocious Puberty
Long penis, Oligospermia, Precocious puberty, Macroorchidism, Male infertility ORPHA:3000
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Vertebral segmentation defect, Sacral dimple OMIM:618845
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Intrauterine growth retardation, Posterior rib fusion, Pectus excavatum, Abnormal rib cage morpho... OMIM:608406
Fibrodysplasia Ossificans Progressiva
Small cervical vertebral bodies, Ectopic ossification in ligament tissue, Scoliosis, Ectopic ossi... OMIM:135100
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion, Short palpebral fissure ORPHA:370010
Multiple Pterygium Syndrome, X-Linked
Flexion contracture, Thin ribs, Joint dislocation, Increased susceptibility to fractures, Abnorma... OMIM:312150
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the uterus, Block vertebrae, Short neck, Missing ribs, Short ribs, Supernumerary verte... OMIM:271520
Stapes Ankylosis With Broad Thumbs And Toes
Proximal/middle symphalangism of 5th finger, Fused cervical vertebrae OMIM:184460
Gorlin Syndrome
Vertebral wedging, Scoliosis, Vertebral fusion, Epicanthus, Telecanthus, Hemivertebrae ORPHA:377
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Short neck, Abnormal rib morphology, Scoliosis, Abnormal vertebr... OMIM:118100
Ring Chromosome 21 Syndrome
Infertility, Amenorrhea, Azoospermia, Abnormal thorax morphology, Fused thoracic vertebrae, Scoli... ORPHA:1445
Multiple Pterygium Syndrome, Lethal Type
Flexion contracture, Thin ribs, Joint dislocation, Increased susceptibility to fractures, Abnorma... OMIM:253290
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Kyphosis, Abnormal form of the vertebral bodies, Hypoplastic vertebral bodies, Elbow dislocation,... ORPHA:2916
Aarskog-Scott Syndrome
Short neck, Abnormality of the cervical spine, Cryptorchidism, Shawl scrotum, Ptosis, Pectus exca... ORPHA:915
Keratoconus Posticus Circumscriptus
Limited elbow extension and supination, Abnormal vertebral segmentation and fusion, Short neck OMIM:244600
Verheij Syndrome
Short neck, Scoliosis, Vertebral fusion, Hemivertebrae, Hip dislocation OMIM:615583
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Increased bone mineral density, Elbow dislocation, Downslanted palpeb... ORPHA:90650
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Large for gestational age, Sacral dimple, Absent eyelashes, Sparse eyebrow, Absent eyebrow, Downs... ORPHA:544488
Microphthalmia, Syndromic 3
Hypogonadotropic hypogonadism, Vertebral hypoplasia, Missing ribs, Supernumerary ribs, Anterior p... OMIM:206900
Robinow Syndrome, Autosomal Recessive 1
Hypoplastic labia majora, Missing ribs, Hypoplastic sacrum, Short neck, Long eyelashes, Cryptorch... OMIM:268310
Mosaic Trisomy 14
Short neck, Cryptorchidism, Blepharophimosis, Narrow chest, Hypoplasia of penis, Ptosis, Abnormal... ORPHA:1703
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Achilles tendon contracture, Kyphosis, Hyperlordosis, Scoliosis, Vertebral fusion OMIM:606612
Chromosome 16Q22 Deletion Syndrome
Upslanted palpebral fissure, Wormian bones, Short palpebral fissure, Short neck, Small for gestat... OMIM:614541
Thakker-Donnai Syndrome
Cervical C2/C3 vertebral fusion, Upslanted palpebral fissure, Short neck, Tracheoesophageal fistu... ORPHA:1780
Three M Syndrome 1
Short neck, Scapular winging, Short thorax, Increased vertebral height, Short ribs, Thick eyebrow... OMIM:273750
Congenital Disorder Of Glycosylation, Type Iig
Upslanted palpebral fissure, Short neck, Osteopenia, Failure to thrive in infancy, Intrauterine g... OMIM:611209
Lateral Meningocele Syndrome
Wormian bones, Short neck, Kyphosis, Cryptorchidism, Sclerosis of skull base, Ptosis, Joint hyper... OMIM:130720
Heart Defects-Limb Shortening Syndrome
Accelerated skeletal maturation, Kyphosis, Abnormal form of the vertebral bodies, Abnormal rib mo... ORPHA:1354
Pontine Tegmental Cap Dysplasia
Ptosis, Scoliosis, Failure to thrive, Hemivertebrae, Rib fusion, Ankle clonus OMIM:614688
Koolen-De Vries Syndrome
Upslanted palpebral fissure, Kyphosis, Joint hyperflexibility, Dry skin, Cryptorchidism, Ptosis, ... ORPHA:96169
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Testicular neoplasm, Aplasia/hy... ORPHA:754
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteopenia, Osteomyelitis, Flaring of rib cage, Osteolysis, Fused cervical vertebrae, Joint swell... OMIM:612852
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypogonadotropic hypogonadism, Infertility, Cryptorchidism, Male pseudohermaphroditism, Ambiguous... ORPHA:752
Developmental And Speech Delay Due To Sox5 Deficiency
Thoracic kyphoscoliosis, Lumbar hyperlordosis, Scoliosis, Vertebral fusion, Butterfly vertebrae ORPHA:313892
Wolf-Hirschhorn Syndrome
Abnormality of the vertebral column, Kyphosis, Abnormal form of the vertebral bodies, Sacral dimp... ORPHA:280
Kyphomelic Dysplasia
Anterior rib cupping, Joint stiffness, Abnormal form of the vertebral bodies, Missing ribs, Short... ORPHA:1801
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Short neck, Azoospermia, Aplasia/hypoplasia of the uterus, Bicornuate uterus, Abnormal rib morpho... ORPHA:2578
Autosomal Recessive Robinow Syndrome
Upslanted palpebral fissure, Cryptorchidism, Ptosis, Scoliosis, Epicanthus, Rib fusion, Synostosi... ORPHA:1507
Juberg-Hayward Syndrome
Intrauterine growth retardation, Severe short stature, Abnormal vertebral morphology, Ptosis, Hig... ORPHA:2319
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Hypoplastic vertebral bodies, Spinal canal stenosis, Vertebral fusion, Tarsal synostosis, Epicant... OMIM:263540
Proximal 16P11.2 Microdeletion Syndrome
Craniosynostosis, Obesity, Abnormal vertebral morphology, Scoliosis, Failure to thrive, Rib fusion ORPHA:261197
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Spina bifida occulta, Tracheoesophageal fistula, Fused cervical vertebrae, Butterfly vertebrae OMIM:619227
Femoral-Facial Syndrome
Hypoplastic labia majora, Upslanted palpebral fissure, Missing ribs, Absent vertebra, Cryptorchid... OMIM:134780
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Abnormality of the vertebral column, Cryptorchidism, Absent eyelashes, Abnormal vertebral morphol... OMIM:308205
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Abnormal form of the vertebral bodies, Sclerotic vertebral body, Abnormal r... ORPHA:2790
Koolen-De Vries Syndrome
Upslanted palpebral fissure, Kyphosis, Sacral dimple, Small for gestational age, Intrauterine gro... OMIM:610443
Alkaptonuria
Limitation of knee mobility, Kyphosis, Intervertebral disc degeneration, Low back pain, Vertebral... OMIM:203500
Metatropic Dysplasia
Kyphosis, Abnormal form of the vertebral bodies, Abnormal enchondral ossification, Joint stiffnes... ORPHA:2635
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance
Decreased body weight, Cryptorchidism, External genital hypoplasia, Eczema, Short stature, Postna... OMIM:612947
Diastrophic Dysplasia
Neonatal short-limb short stature, Kyphosis, Abnormal form of the vertebral bodies, Increased bon... ORPHA:628
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Achilles tendon contracture, Kyphosis, Hyperlordosis, Scoliosis, Vertebral fusion OMIM:607155
Noonan Syndrome 8
Large for gestational age, Short neck, Cryptorchidism, Palmoplantar cutis laxa, Pleural effusion,... OMIM:615355
Wolf-Hirschhorn Syndrome
Cryptorchidism, Ptosis, Highly arched eyebrow, Scoliosis, Vertebral fusion, Epicanthus, Rib fusio... OMIM:194190
Aicardi Syndrome
Block vertebrae, Missing ribs, Supernumerary ribs, Sparse lateral eyebrow, Bifid ribs, Scoliosis,... OMIM:304050
Mayer-Rokitansky-Küster-Hauser Syndrome
Abnormal sacrum morphology, Vertebral segmentation defect, Vertebral fusion, Abnormal form of the... ORPHA:3109
Mosaic Trisomy 20
Upslanted palpebral fissure, Kyphosis, Scoliosis, Spinal canal stenosis, Vertebral fusion, Fused ... ORPHA:1724
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Cervical ribs, Scoliosis, Patellar dislocation, Fused cervical vertebrae, Aplasia/Hyp... ORPHA:3320
Prune Belly Syndrome
Cryptorchidism, Congenital hip dislocation, Abnormal rib morphology, Abnormality of the uterus, P... ORPHA:2970
Aicardi Syndrome
Block vertebrae, Missing ribs, Supernumerary ribs, Sparse lateral eyebrow, Bifid ribs, Scoliosis,... ORPHA:50
Cog1-Cdg
Irregularity of vertebral bodies, Short neck, Osteopenia, Rhizomelia, Downslanted palpebral fissu... ORPHA:263508
Metatropic Dysplasia
Cupped ribs, Severe short stature, Disproportionate short-trunk short stature, Scoliosis, Arthrog... OMIM:156530
Robinow Syndrome
Hypoplastic labia majora, Small scrotum, Missing ribs, Small for gestational age, Radioulnar disl... ORPHA:97360
Axial Spondylometaphyseal Dysplasia
Cupped ribs, Delayed ossification of carpal bones, Aplasia/Hypoplasia of the vertebrae, Dispropor... ORPHA:168549
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Genu varum, Vertebral hypoplasia, Abnormal bone ossification, Scoliosis, Vertebral fusion, Limb p... ORPHA:93315
Pallister-Hall Syndrome
Intrauterine growth retardation, Radial head subluxation, Cryptorchidism, Panhypopituitarism, Mic... OMIM:146510
Zttk Syndrome
Absent gallbladder, Craniosynostosis, Kyphosis, Flexion contracture, Cervical ribs, Intrauterine ... OMIM:617140
Baller-Gerold Syndrome
Lambdoidal craniosynostosis, Rectovaginal fistula, Carpal synostosis, Patellar hypoplasia, Corona... OMIM:218600
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Short neck, Rhizomelia, Narrow chest, Decreased skull ossification, Abnormal rib morphology, Plat... ORPHA:93267
Arthrogryposis, Distal, Type 2A
Cryptorchidism, Ptosis, Scoliosis, Epicanthus, Telecanthus, Oligohydramnios, Hip dislocation, Sho... OMIM:193700
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cryptorchidism, Epicanthus, Cholelithiasis, Intrauterine growth retardation, Parakeratosis, Micro... ORPHA:83617
Atelosteogenesis, Type I
Coronal cleft vertebrae, Vertebral hypoplasia, Short neck, Disproportionate short-limb short stat... OMIM:108720
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Male hypogonadism, Superior rib anomalies, Abnormality of the cer... OMIM:307500
Hypocalcemia, Autosomal Dominant 2
Postnatal growth retardation OMIM:615361
Fanconi Anemia, Complementation Group I
Short neck, Fused cervical vertebrae OMIM:609053
Caudal Regression Syndrome
Missing ribs, Joint stiffness, Hypoplastic vertebral bodies, Cryptorchidism, Scoliosis, Ambiguous... ORPHA:3027
Osteogenesis Imperfecta, Type Ix
Wormian bones, Decreased calvarial ossification, Kyphosis, Recurrent fractures, Multiple prenatal... OMIM:259440
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hypogonadotropic hypogonadism, Tracheoesophageal fistula, Hyperlordosis, Hypoplasia of penis, Pto... ORPHA:3068
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Upslanted palpebral fissure, Kyphosis, Short neck, Cryptorchidism, Aplasia/Hypoplasia of the eyeb... ORPHA:3082
Multiple Epiphyseal Dysplasia Type 5
Knee pain, Genu varum, Premature osteoarthritis, Joint stiffness, Decreased hip abduction, Interv... ORPHA:93311
Frontometaphyseal Dysplasia
Limitation of knee mobility, Limitation of movement at ankles, Craniosynostosis, Dislocated radia... ORPHA:1826
Basal Cell Nevus Syndrome
Orbital cyst, Irregular ossification of hand bones, Supernumerary ribs, Short ribs, Vertebral wed... OMIM:109400
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Genu varum, Shoulder dislocation, Elbow dislocation, Radioulnar synostosis, Downslanted palpebral... OMIM:171480
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Multiple prenatal fractures, Decreased skull ossification, Ascites, Telecanthus, Short neck, Flex... OMIM:616897
Arnold-Chiari Malformation Type I
Cervical C2/C3 vertebral fusion, Scoliosis, Fused cervical vertebrae, Stiff neck, Anteriorly plac... ORPHA:268882
1P36 Deletion Syndrome
Cryptorchidism, 11 pairs of ribs, Bifid ribs, Scoliosis, Spinal canal stenosis, Epicanthus, Rib f... ORPHA:1606
Temple Syndrome
Small for gestational age, Cryptorchidism, Obesity, Scoliosis, Precocious puberty, Short stature,... ORPHA:254516
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Short stature, Abnormal rib morphology ORPHA:2435
Mesomelic Dysplasia, Kantaputra Type
Synostosis of carpal bones, Abnormality of the ankles, Abnormal rib morphology, Short stature, Cu... ORPHA:1836
Myhre Syndrome
Short neck, Joint stiffness, Small for gestational age, Birth length less than 3rd percentile, Cr... OMIM:139210
Frontometaphyseal Dysplasia 2
Dislocated radial head, Thick eyebrow, Congenital hip dislocation, Downslanted palpebral fissures... OMIM:617137
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
3M Syndrome
Horizontal ribs, Kyphosis, Short neck, Scapular winging, Increased vertebral height, Short thorax... ORPHA:2616
Faciodigitogenital Syndrome, Autosomal Recessive
Cryptorchidism, Hyperextensible hand joints, Shawl scrotum, Down-sloping shoulders, Pectus excava... OMIM:227330
Androgen Insensitivity, Partial
Infertility, Perineal hypospadias, Azoospermia, Cryptorchidism, Micropenis, Male pseudohermaphrod... OMIM:312300
3Mc Syndrome
Craniosynostosis, Blepharophimosis, Caudal appendage, Supernumerary nipple, Hyperlordosis, Teleca... ORPHA:293843
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Missing ribs, Abnormal form of the vertebral bodies, Abnormal rib morphology, Downslanted palpebr... ORPHA:2759
Septopreoptic Holoprosencephaly
Central diabetes insipidus, Anterior hypopituitarism, Abnormal vertebral morphology, Abnormal rib... ORPHA:280195
Axial Mesodermal Dysplasia Spectrum
Missing ribs, Short neck, Abnormal form of the vertebral bodies, Abnormal morphology of female in... ORPHA:1834
Sprengel Deformity
Scoliosis, Sprengel anomaly, Spina bifida occulta, Cervical segmentation defect, Hemivertebrae, R... OMIM:184400
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Carpal bone hypoplasia, Short neck, Dislocated radial head, Joint laxity, Thin ribs, Obesity, Pla... OMIM:618395
9Q21.13 Microdeletion Syndrome
Craniosynostosis, Cryptorchidism, Ptosis, Scoliosis, Long palpebral fissure, Postnatal growth ret... ORPHA:531151
Spondyloepimetaphyseal Dysplasia, Irapa Type
Synostosis of carpal bones, Osteoporosis, Osteoarthritis, Platyspondyly, Abnormal rib morphology,... ORPHA:93351
Partial Androgen Insensitivity Syndrome
Male sexual dysfunction, Aplasia of the uterus, Perineal hypospadias, Primary amenorrhea, Azoospe... ORPHA:90797
Infantile-Onset X-Linked Spinal Muscular Atrophy
Cupped ribs, Cryptorchidism, Short ribs, Ankle flexion contracture, Knee flexion contracture, Hip... ORPHA:1145
Lethal Congenital Contracture Syndrome Type 1
Short neck, Recurrent fractures, Abnormal form of the vertebral bodies, Abnormal rib morphology, ... ORPHA:1486
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Shoulder subluxation, Short palpebral fissure, Thoracic scoliosis, Thoracic kyphosis, Short neck,... ORPHA:508498
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Intrauterine growth retardation OMIM:600546
Renpenning Syndrome
Upslanted palpebral fissure, Joint stiffness, Severe short stature, Thin eyebrow, Growth delay, A... ORPHA:3242
Marden-Walker Syndrome
Kyphosis, Short neck, Intrauterine growth retardation, Joint contracture of the hand, Cryptorchid... OMIM:248700
Thoracolaryngopelvic Dysplasia
Horizontal ribs, Slender build, Irregular chondrocostal junctions, Short ribs, Scoliosis, Bell-sh... OMIM:187760
Chondrodysplasia Punctata 2, X-Linked Dominant
Short neck, Rhizomelia, Epiphyseal stippling, Edema, Sparse eyebrow, Abnormal thorax morphology, ... OMIM:302960
Duane-Radial Ray Syndrome
Epicanthus, Scoliosis, Fused cervical vertebrae, Spina bifida occulta, Palpebral fissure narrowin... OMIM:607323
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Short stature OMIM:615925
Vacterl/Vater Association
Abnormal sacrum morphology, Intrauterine growth retardation, Abnormal morphology of female intern... ORPHA:887
Achondrogenesis Type 1B
Short neck, Short thorax, Abnormal enchondral ossification, Severe short stature, Hydrops fetalis... ORPHA:93298
Apert Syndrome
Downslanted palpebral fissures, Vertebral segmentation defect, Cervical C5/C6 vertebrae fusion ORPHA:87
Osteogenesis Imperfecta, Type Ii
Wormian bones, Recurrent fractures, Multiple prenatal fractures, Small for gestational age, Thin ... OMIM:166210
Meier-Gorlin Syndrome 1
Genu varum, Absent sternal ossification, Cryptorchidism, Abnormal rib cage morphology, Aplasia/Hy... OMIM:224690
3Mc Syndrome 2
Abnormality of the vertebral column, Craniosynostosis, Cryptorchidism, Blepharophimosis, Caudal a... OMIM:265050
Dyggve-Melchior-Clausen Disease
Abnormality of the vertebral column, Severe short stature, Disproportionate short-trunk short sta... ORPHA:239
46,Xy Partial Gonadal Dysgenesis
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Abnormal labi... ORPHA:251510
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Decreased calvarial ossification, Disproportionate short-limb short stature, Recurrent fractures,... ORPHA:2772
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Intrauterine growth retardation, Small for gestational age, Cryptorchidism, Obesity, Joint hyperm... ORPHA:96184
Spondylocarpotarsal Synostosis Syndrome
Carpal synostosis, Block vertebrae, Short neck, Hypoplasia of the odontoid process, Hyperlordosis... OMIM:272460
Laryngotracheoesophageal Cleft Type 4
Abnormal form of the vertebral bodies, Tracheoesophageal fistula, Abnormal rib morphology, Cachex... ORPHA:93941
Alagille Syndrome
Abnormal form of the vertebral bodies, Intrauterine growth retardation, Delayed puberty, Cryptorc... ORPHA:52
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Carpal synostosis, Increased bone mineral density, Narrow chest, Elbo... ORPHA:90652
Pallister-Hall Syndrome
Distal arthrogryposis, Radial head subluxation, Cryptorchidism, Panhypopituitarism, Adrenocortico... ORPHA:672
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Horizontal ribs, Cryptorchidism, Thoracic dysplasia, Lateral clavicle hook, Obesity, Polyhydramni... OMIM:615633
Thrombocytopenia-Absent Radius Syndrome
Carpal bone hypoplasia, Genu varum, Carpal synostosis, Cervical ribs, Ptosis, Patellar dislocatio... OMIM:274000
Cole-Carpenter Syndrome 2
Lambdoidal craniosynostosis, Wormian bones, Osteopenia, Kyphosis, Coronal craniosynostosis, Thin ... OMIM:616294
Lethal Kniest-Like Dysplasia
Coronal cleft vertebrae, Anterior rib cupping, Short neck, Hypoplastic vertebral bodies, Short ri... ORPHA:2347
Short Tarsus With Absence Of Lower Eyelashes
Absent lower eyelashes, Hypoplasia of the lower eyelids OMIM:600269
Apert Syndrome
Synostosis of carpal bones, Lambdoidal craniosynostosis, Craniosynostosis, Shallow orbits, Corona... OMIM:101200
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Abnormality of the vertebral column, Azoospermia, Abnormal rib morphology, Short stature, Sprenge... OMIM:601076
Chromosome 1P36 Deletion Syndrome, Distal
Upslanted palpebral fissure, Delayed closure of the anterior fontanelle, Cryptorchidism, Blepharo... OMIM:607872
Acro-Renal-Mandibular Syndrome
Pectus carinatum, Short neck, Kyphosis, Intrauterine growth retardation, Uterus didelphys, Thin r... ORPHA:958
Fibrochondrogenesis
Short neck, Abnormal form of the vertebral bodies, Short ribs, Narrow chest, Hypoplastic scapulae... ORPHA:2021
Osteogenesis Imperfecta, Type Xv
Recurrent fractures, Thin ribs, Platyspondyly, Joint hypermobility, Scoliosis, Short stature, Bow... OMIM:615220
Trisomy 13
Kyphosis, Intrauterine growth retardation, Abnormal morphology of female internal genitalia, Cryp... ORPHA:3378
Complete Androgen Insensitivity Syndrome
Abnormality of the uterine cervix, Aplasia of the uterus, Primary amenorrhea, Abnormal morphology... ORPHA:99429
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Hyperextensibility at elbow, Absent gallbladder, Cervical ribs, Intrauterine growth retardation, ... ORPHA:500150
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal form of the vertebral bodies, Obesity, Abnormal rib morphology, Scoliosis, Sprengel anom... ORPHA:2180
Phaver Syndrome
Joint stiffness, Pterygium, Abnormal form of the vertebral bodies, Intrauterine growth retardatio... ORPHA:2876
White Forelock With Malformations
Epicanthus, Abnormal rib morphology, Sprengel anomaly, Spina bifida occulta, Joint hyperflexibili... ORPHA:2475
Chromosome 10Q26 Deletion Syndrome
Upslanted palpebral fissure, Small scrotum, Short neck, Craniosynostosis, Small for gestational a... OMIM:609625
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Cupped ribs, Delayed ossification of carpal bones, Beaking of vertebral bodies, Platyspondyly, Di... OMIM:609616
Osteogenesis Imperfecta, Type Iii
Neonatal short-limb short stature, Decreased calvarial ossification, Wormian bones, Kyphosis, Rec... OMIM:259420
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Neonatal short-limb short stature, Short neck, Short ribs, Thin ribs, Narrow chest, Decreased cra... OMIM:151210
Sillence Syndrome
Intervertebral disc degeneration, Slender build, Abnormal vertebral morphology, Platyspondyly, Ba... ORPHA:3168
Postaxial Acrofacial Dysostosis
Cryptorchidism, Supernumerary vertebrae, Supernumerary nipple, Micropenis, Congenital hip disloca... OMIM:263750
Noonan Syndrome 10
Short neck, Cryptorchidism, Palmoplantar cutis laxa, Sparse eyebrow, Pleural effusion, Ptosis, Pe... OMIM:616564
Noonan Syndrome 2
Short neck, Cryptorchidism, Palmoplantar cutis laxa, Sparse eyebrow, Shield chest, Ptosis, Pectus... OMIM:605275
Dyggve-Melchior-Clausen Disease
Genu varum, Rhizomelic arm shortening, Disproportionate short-trunk short stature, Scoliosis, Gen... OMIM:223800
Schwartz-Jampel Syndrome
Abnormally straight spine, Osteoporosis, Ptosis, Abnormal rib morphology, Protrusio acetabuli, Sc... ORPHA:800
Simpson-Golabi-Behmel Syndrome
Accelerated skeletal maturation, Short neck, Cryptorchidism, Supernumerary nipple, Congenital hip... ORPHA:373
Mucopolysaccharidosis Type 4
Short neck, Kyphosis, Short thorax, Hyperlordosis, Joint dislocation, Platyspondyly, Abnormal rib... ORPHA:582
Cole-Carpenter Syndrome
Wormian bones, Kyphosis, Recurrent fractures, Abnormal form of the vertebral bodies, Intrauterine... ORPHA:2050
10Q22.3Q23.3 Microduplication Syndrome
Upslanted palpebral fissure, Abnormal rib morphology, Abnormal clavicle morphology, Ambiguous gen... ORPHA:276422
Mosaic Trisomy 8
Short neck, Cryptorchidism, Narrow chest, Abnormal rib morphology, Scoliosis, Short stature, Arth... ORPHA:96061
Brachytelephalangic Chondrodysplasia Punctata
Abnormality of the vertebral column, Cervical kyphosis, Vertebral hypoplasia, Coronal cleft verte... ORPHA:79345
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Intrauterine growth retardation, Rhizomelia, Thin ribs, Platyspondyly, Hyperkeratosis, Short stature ORPHA:163966
45,X/46,Xy Mixed Gonadal Dysgenesis
Ovotestis, Chordee, Cryptorchidism, Scoliosis, Male infertility, Bilateral cryptorchidism, Epispa... ORPHA:1772
Ritscher-Schinzel Syndrome 3
Cryptorchidism, Epiphyseal stippling, Highly arched eyebrow, Downslanted palpebral fissures, Poor... OMIM:619135
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Cupped ribs, Ovoid vertebral bodies, Joint stiffness, Rhizomelia, Platyspondyly, Scoliosis, Postn... OMIM:608940
Achondrogenesis, Type Ii
Horizontal ribs, Short ribs, Hydrops fetalis, Disproportionate short-trunk short stature, Barrel-... OMIM:200610
Desbuquois Dysplasia 2
Advanced ossification of carpal bones, Genu varum, Short neck, Intrauterine growth retardation, R... OMIM:615777
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Vertebral compression fracture, Small for gestational age, Rhizomelia, Joint hypermob... OMIM:616229
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Short neck, Obesity, Growth delay, Male pseudohermaphroditism, Postnatal growth retardation, Narr... OMIM:600122
Duane Retraction Syndrome
Short palpebral fissure, Short neck, Abnormal form of the vertebral bodies, Abnormal vertebral se... ORPHA:233
Multiple Pterygium-Malignant Hyperthermia Syndrome
Small scrotum, Kyphosis, Cryptorchidism, Severe short stature, Ptosis, Abnormal rib morphology, D... ORPHA:2215
Achondrogenesis, Type Ia
Short neck, Short ribs, Hydrops fetalis, Hypoplastic scapulae, Decreased skull ossification, Disp... OMIM:200600
Acro-Renal-Ocular Syndrome
Short palpebral fissure, Ptosis, Vertebral fusion, Epicanthus, Vertebral segmentation defect ORPHA:959
Tetraamelia-Multiple Malformations Syndrome
Missing ribs, Cryptorchidism, Vaginal atresia, Abnormal rib morphology, Polyhydramnios, Abnormall... ORPHA:3301
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Cenani-Lenz Syndrome
Synostosis of carpal bones, Abnormal form of the vertebral bodies, Elbow dislocation, Ptosis, Abn... ORPHA:3258
Fibrochondrogenesis 1
Anterior rib cupping, Short neck, Posterior rib cupping, Posterior vertebral hypoplasia, Short ri... OMIM:228520
Autosomal Dominant Popliteal Pterygium Syndrome
Hypoplastic labia majora, Small scrotum, Popliteal pterygium, Joint stiffness, Cryptorchidism, Ab... ORPHA:1300
Shprintzen-Goldberg Craniosynostosis Syndrome
Shallow orbits, Cryptorchidism, Ptosis, Scoliosis, Telecanthus, Genu valgum, Supernumerary ribs, ... OMIM:182212
Mucopolysaccharidosis, Type Iva
Kyphosis, Ovoid vertebral bodies, Cervical subluxation, Hypoplasia of the odontoid process, Large... OMIM:253000
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Upslanted palpebral fissure, Short neck, Flexion contracture, Disproportionate short-limb short s... OMIM:611717
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Cryptorchidism, 11 pairs of ribs, Disproportionate short stature, Oligohydramnios, Hip dislocatio... OMIM:210710
47,Xyy Syndrome
Varicocele, Azoospermia, Micropenis, Cryptorchidism, Oligospermia, Macroorchidism, Male infertili... ORPHA:8
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Abnormal exte... ORPHA:95699
Myhre Syndrome
Short palpebral fissure, Joint stiffness, Intrauterine growth retardation, Abnormal penis morphol... ORPHA:2588
Ogden Syndrome
Long eyelashes, Cryptorchidism, Sparse eyebrow, Palpebral thickening, Cutis laxa, Downslanted pal... OMIM:300855
Grant Syndrome
Wormian bones, Joint dislocation, Decreased skull ossification, Abnormal rib morphology, Abnormal... ORPHA:2097
Maternal Uniparental Disomy Of Chromosome 2
Chordee, Intrauterine growth retardation, Oligohydramnios, Contractures of the large joints, C1-C... ORPHA:96179
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Cervical C2/C3 vertebral fusion, Wormian bones, Tracheomalacia, Long eyelashes, Thick eyebrow, Ab... ORPHA:444077
Craniosynostosis, Herrmann-Opitz Type
Craniosynostosis, Intrauterine growth retardation, Oligohydramnios, Abnormal rib morphology, Shor... ORPHA:2145
Noonan Syndrome 1
Failure to thrive in infancy, Cryptorchidism, Ptosis, Male infertility, Epicanthus, Short neck, S... OMIM:163950
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Penile hypospadias, Glandular hypospadias, Cryptorchidism, Micropenis, Thin ribs, Joint hypermobi... ORPHA:456328
Mucopolysaccharidosis, Type Ivb
Kyphosis, Ovoid vertebral bodies, Cervical subluxation, Hypoplasia of the odontoid process, Joint... OMIM:253010
Melnick-Needles Syndrome
Short thorax, Short clavicles, Abnormal rib morphology, Osteolytic defects of the phalanges of th... ORPHA:2484
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Penile hypospadias, Shallow orbits, Abnormal form of the vertebral bodies, Generalized bone demin... ORPHA:73230
Classic Galactosemia
Decreased fertility in females, Primary amenorrhea, Cryptorchidism, Osteoporosis, Secondary ameno... ORPHA:79239
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility ORPHA:2239
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Nonimmune hydrops fetalis, Tracheoesophageal fistula, Posterior rib fusion, Pleural effusion, Pol... OMIM:265380
Cartilage-Hair Hypoplasia
Abnormal bone ossification, Abnormal rib morphology, Scoliosis, Tracheal stenosis, Epicanthus, Na... ORPHA:175
Mucopolysaccharidosis, Type X
Posterior scalloping of vertebral bodies, Spatulate ribs, Irregular acetabular roof, Beaking of v... OMIM:619698
Cooper-Jabs Syndrome
Missing ribs, Abnormal rib morphology, Scoliosis, Short stature, Reduced bone mineral density, Ca... ORPHA:1488
Campomelia, Cumming Type
Pancreatic cysts, Hydrops fetalis, Abnormal thorax morphology, Abnormal rib morphology, Lymphedem... ORPHA:1318
Cantú Syndrome
Accelerated skeletal maturation, Ovoid vertebral bodies, Short neck, Long eyelashes, Thick eyebro... ORPHA:1517
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Aplasia of the uterus, Adrenocorticotropic hormone excess, Irregular menstruation, Primary amenor... ORPHA:90793
Kniest-Like Dysplasia, Lethal
Coronal cleft vertebrae, Short neck, Hypoplastic vertebral bodies, Short ribs, Rhizomelia, Platys... OMIM:245190
Acrorenal-Mandibular Syndrome
Missing ribs, Unicornuate uterus, Elbow flexion contracture, Intrauterine growth retardation, Abs... OMIM:200980
Greenberg Dysplasia
Hypoplastic vertebral bodies, Multiple prenatal fractures, 11 pairs of ribs, Decreased skull ossi... OMIM:215140
Craniodiaphyseal Dysplasia
Short stature, Abnormal rib morphology ORPHA:1513
Mucopolysaccharidosis Type 6
Ovoid vertebral bodies, Kyphosis, Short neck, Joint stiffness, Disproportionate short-trunk short... ORPHA:583
Osteogenesis Imperfecta, Type Xviii
Generalized osteoporosis, Wormian bones, Recurrent fractures, Vertebral compression fracture, Lon... OMIM:617952
Poland Syndrome
Aplasia/Hypoplasia of the sternum, Finger symphalangism, Short neck, Kyphosis, Missing ribs, Asym... ORPHA:2911
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Short neck, Short ribs, Rhizomelia, Scoliosis, Short stature, Short clavicles, Biconcave vertebra... OMIM:610319
Osteogenesis Imperfecta, Type X
Osteopenia, Vertebral compression fracture, Shallow orbits, Joint laxity, Thin ribs, Generalized ... OMIM:613848
De Barsy Syndrome
Dermal translucency, Wormian bones, Osteopenia, Intrauterine growth retardation, Delayed closure ... ORPHA:2962
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Cryptorchidism, Micropenis, Supernumerary nipple, Short ribs, Abnormal rib morphology, Redundant ... ORPHA:2519
Otopalatodigital Syndrome, Type Ii
Nonossified fifth metatarsal, Wormian bones, Delayed closure of the anterior fontanelle, Cryptorc... OMIM:304120
Holt-Oram Syndrome
Kyphosis, Joint stiffness, Abnormal rib morphology, Abnormal clavicle morphology, Radioulnar syno... ORPHA:392
Craniometadiaphyseal Dysplasia
Genu varum, Wormian bones, Osteopenia, Sclerosis of skull base, Downslanted palpebral fissures, S... OMIM:269300
Atypical Werner Syndrome
Sclerosis of hand bone, Aplasia/Hypoplasia of the eyebrow, Osteoporosis, Abnormal thorax morpholo... ORPHA:79474
Microcephaly-Micromelia Syndrome
Short palpebral fissure, Craniosynostosis, Short neck, Intrauterine growth retardation, Abnormal ... OMIM:251230
Aymé-Gripp Syndrome
Upslanted palpebral fissure, Craniosynostosis, Shallow orbits, Prominent metopic ridge, Supernume... ORPHA:1272
Restrictive Dermopathy
Generalized hyperkeratosis, Aplasia/Hypoplasia of the clavicles, Decreased skull ossification, Ar... ORPHA:1662
3Mc Syndrome 1
Lambdoidal craniosynostosis, Sacral dimple, Coronal craniosynostosis, Blepharophimosis, Caudal ap... OMIM:257920
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Cryptorchidism, External genital hypoplasia, Abnormality of the costochondral junction, Scoliosis... ORPHA:96334
Dysosteosclerosis
Clavicular sclerosis, Osteopenia, Hypoplastic vertebral bodies, Delayed closure of the anterior f... OMIM:224300
Wiedemann-Steiner Syndrome
Hyperextensibility at elbow, Accelerated skeletal maturation, Short palpebral fissure, Sacral dim... ORPHA:319182
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Wormian bones, Osteopenia, Increased bone mineral density, Downslanted palpebral fissures, Wide a... ORPHA:85184
Lenz-Majewski Hyperostotic Dwarfism
Chordee, Intrauterine growth retardation, Cryptorchidism, Lacrimal duct stenosis, Cutis laxa, Pro... OMIM:151050
Ciliary Dyskinesia, Primary, 34
Immotile sperm, Male infertility OMIM:617091
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Upslanted palpebral fissure, Abnormal rib morphology, Intrauterine growth retardation, Abnormally... ORPHA:3035
Lethal Congenital Contracture Syndrome 10
Thoracic scoliosis, Short neck, Intrauterine growth retardation, Hydrops fetalis, Hypoplasia of t... OMIM:617022
Microcephalic Primordial Dwarfism, Toriello Type
Intrauterine growth retardation, Severe short stature, Abnormal rib morphology, Downslanted palpe... ORPHA:2643
Holzgreve Syndrome
Joint stiffness, Intrauterine growth retardation, Abnormal rib morphology, Abnormally ossified ve... ORPHA:2167
Trisomy 1Q
Small scrotum, Camptodactyly of finger, Short thorax, Cryptorchidism, Hydrops fetalis, Abnormal r... ORPHA:261344
Cat-Eye Syndrome
Downslanted palpebral fissures, Short stature, Intrauterine growth retardation, Abnormal rib morp... ORPHA:195
Nestor-Guillermo Progeria Syndrome
Flexion contracture, Joint stiffness, Delayed closure of the anterior fontanelle, Thin ribs, Oste... OMIM:614008
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Short neck, Cryptorchidism, Micropenis, Vaginal atresia, Pancreatic lymphangiectasis, Abnormality... ORPHA:1655
Aromatase Deficiency
Osteopenia, Primary amenorrhea, Cryptorchidism, Obesity, Osteoporosis, Ambiguous genitalia, femal... ORPHA:91
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Progressive congenital scoliosis, Osteopenia, Joint laxity, Thin ribs, Congenital hip dislocation... OMIM:225400
Monosomy 9Q22.3
Accelerated skeletal maturation, Abnormality of the vertebral column, Large for gestational age, ... ORPHA:77301
Osteogenesis Imperfecta, Type Viii
Decreased calvarial ossification, Wormian bones, Kyphosis, Vertebral compression fracture, Multip... OMIM:610915
Hypophosphatasia
Craniosynostosis, Recurrent fractures, Failure to thrive in infancy, Abnormal rib morphology, Sho... ORPHA:436
Jeune Syndrome
Short thorax, Abnormal clavicle morphology, Abnormal rib morphology, Short stature, Narrow chest,... ORPHA:474
Mosaic Variegated Aneuploidy Syndrome 1
Upslanted palpebral fissure, Short neck, Intrauterine growth retardation, Small for gestational a... OMIM:257300
Monosomy 9P
Abnormality of the vertebral column, Upslanted palpebral fissure, Short neck, Cryptorchidism, Lim... ORPHA:261112
Fetal Akinesia Deformation Sequence 1
Short palpebral fissure, Short neck, Intrauterine growth retardation, Small for gestational age, ... OMIM:208150
Fibrous Dysplasia Of Bone
Precocious puberty in females, Abnormality of the cervical spine, Testicular neoplasm, Elevated c... ORPHA:249
Ciliary Dyskinesia, Primary, 18
Immotile sperm, Male infertility OMIM:614874
Hurler Syndrome
Short neck, Thick eyebrow, Abnormal vertebral morphology, Abnormal rib morphology, Abnormal clavi... ORPHA:93473
Orofaciodigital Syndrome Xiv
Upslanted palpebral fissure, Cryptorchidism, Micropenis, Short ribs, Epispadias, Telecanthus, Apl... OMIM:615948
Campomelic Dysplasia
Absent sternal ossification, Tracheomalacia, Poorly ossified cervical vertebrae, 11 pairs of ribs... OMIM:114290
Cleidocranial Dysplasia
Abnormal sacrum morphology, Wormian bones, Recurrent fractures, Osteoporosis, Decreased skull oss... ORPHA:1452
Oculocerebrocutaneous Syndrome
Missing ribs, Cryptorchidism, Congenital hip dislocation, Ptosis, Eyelid coloboma, Abnormal rib m... ORPHA:1647
Schinzel-Giedion Midface Retraction Syndrome
Shallow orbits, Sacrococcygeal teratoma, Splenopancreatic fusion, Hypoplastic labia majora, Short... OMIM:269150
Hereditary Acrokeratotic Poikiloderma
Palmoplantar hyperkeratosis, Erythema, Abnormal rib morphology, Eczema, Short stature, Skin ulcer... ORPHA:2907
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Short neck, Symblepharon, Micropenis, Thick eyebrow, Abnormal rib morphology, Spina b... ORPHA:488434
Familial Osteodysplasia, Anderson Type
Missing ribs, Kyphosis, Recurrent fractures, Abnormal form of the vertebral bodies, Thick eyebrow... ORPHA:2769
Orofaciodigital Syndrome Type 14
Upslanted palpebral fissure, Short neck, Bilateral cryptorchidism, Epispadias, Telecanthus, Aplas... ORPHA:434179
Osteogenesis Imperfecta
Fractures of the long bones, Cervical kyphosis, Osteoporosis, Decreased skull ossification, Abnor... ORPHA:666
Charge Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Ptosis, Highly arched eyebrow, ... ORPHA:138
Ulbright-Hodes Syndrome
Ovoid thoracolumbar vertebrae, Short neck, Enlarged labia minora, Abnormal penis morphology, Cryp... ORPHA:3404
Loeys-Dietz Syndrome 6
Hip osteoarthritis, Intervertebral disc degeneration, Striae distensae, Knee osteoarthritis, Scol... OMIM:619656
Smith-Lemli-Opitz Syndrome
Upslanted palpebral fissure, Cryptorchidism, Ptosis, Abnormal rib morphology, Scoliosis, Tracheal... ORPHA:818
Wrinkly Skin Syndrome
Wormian bones, Osteopenia, Intrauterine growth retardation, Delayed closure of the anterior fonta... ORPHA:2834
Osteogenesis Imperfecta, Type Vii
Decreased calvarial ossification, Wormian bones, Osteopenia, Vertebral compression fracture, Mult... OMIM:610682
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Vertebral segmentation defect, Abnormal rib morphology ORPHA:1120
Radio-Renal Syndrome
Chylothorax, Short neck, Abnormal form of the vertebral bodies, Severe short stature, Pleural eff... ORPHA:3015
Microcephaly, Short Stature, And Limb Abnormalities
Upslanted palpebral fissure, Intrauterine growth retardation, Dislocated radial head, Abnormal ri... OMIM:617604
Aspergillosis
Abnormality of the vertebral column, Pleural effusion, Abnormal rib morphology, Dacryocystitis, O... ORPHA:1163
Occipital Horn Syndrome
Kyphosis, Joint laxity, Osteoporosis, Short clavicles, Platyspondyly, Limited knee extension, Lim... OMIM:304150
Ear-Patella-Short Stature Syndrome
Cryptorchidism, Severe short stature, Abnormal rib morphology, Clitoral hypertrophy, Hypoplastic ... ORPHA:2554
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Decreased calvarial ossification, Cryptorchidism, Anteriorly displaced genitalia, Aplasia/Hypopla... OMIM:276820
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Horizontal ribs, Micropenis, Short ribs, Narrow chest, Lateral clavicle hook, Thoracic dysplasia,... OMIM:263520
Kindler Epidermolysis Bullosa
Palmoplantar keratoderma, Flexion contracture, Recurrent skin infections, Erythema, Neoplasm of t... ORPHA:2908
X-Linked Hypophosphatemia
Genu varum, Enlargement of the costochondral junction, Craniosynostosis, Sacroiliac joint synovit... ORPHA:89936
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Generalized Arterial Calcification Of Infancy
Stippled calcification of the elbow, Abnormal calcification of the carpal bones, Hypophosphatemic... ORPHA:51608
Ciliary Dyskinesia, Primary, 14
Immotile sperm, Male infertility, Reduced sperm motility OMIM:613807
Trisomy 18
Intrauterine growth retardation, Abnormal morphology of female internal genitalia, Cryptorchidism... ORPHA:3380
Spondylometaphyseal Dysplasia, Sedaghatian Type
Accelerated skeletal maturation, Rhizomelic arm shortening, Abnormal scapula morphology, Platyspo... ORPHA:93317
Keppen-Lubinsky Syndrome
Shallow orbits, Flexion contracture, Increased susceptibility to fractures, Scoliosis, Failure to... ORPHA:435628
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
Vater/Vacterl Association
Intrauterine growth retardation, Tracheoesophageal fistula, Abnormal vertebral morphology, Abnorm... OMIM:192350
Digeorge Syndrome
Cholelithiasis, Short palpebral fissure, Intervertebral disc degeneration, Parathyroid agenesis, ... OMIM:188400
Oculocerebrorenal Syndrome Of Lowe
Upslanted palpebral fissure, Cryptorchidism, Abnormal rib morphology, Osteomalacia, Scoliosis, Pa... ORPHA:534
Aneurysm-Osteoarthritis Syndrome
Intervertebral disc degeneration, Osteochondritis dissecans, Knee osteoarthritis, Joint laxity, S... ORPHA:284984
Cerebrocostomandibular Syndrome
Calcaneal epiphyseal stippling, 11 pairs of ribs, Congenital hip dislocation, Anomalous rib inser... OMIM:117650
Kabuki Syndrome 1
Prominent eyelashes, Cryptorchidism, Micropenis, Congenital hip dislocation, Sparse eyebrow, Abno... OMIM:147920
Pyknoachondrogenesis
Abnormal intramembranous ossification, Horizontal ribs, Short thorax, Short ribs, Palpebral edema... ORPHA:3003
Antley-Bixler Syndrome
Craniosynostosis, Joint stiffness, Recurrent fractures, Narrow chest, Abnormal rib morphology, Do... ORPHA:83
Kyphomelic Dysplasia
Anterior rib cupping, Pterygium, Lateral clavicle hook, Undulate ribs, Platyspondyly, Disproporti... OMIM:211350
Hereditary Amyloidosis With Primary Renal Involvement
Petechiae, Primary testicular failure, Oligospermia, Male infertility, Abnormal testis morphology... ORPHA:85450
Townes-Brocks Syndrome
Rectovaginal fistula, Cryptorchidism, Abnormal vagina morphology, Hypoplasia of penis, Abnormal v... ORPHA:857
Robin Sequence With Cleft Mandible And Limb Anomalies
Short stature, Hip dislocation, Hip subluxation, Acetabular dysplasia, Aplasia of the epiglottis OMIM:268305
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Intrauterine growth retardation, Abnormal rib morphology ORPHA:1506
Fanconi Anemia, Complementation Group A
Anemic pallor, Small for gestational age, Cryptorchidism, Short stature, Male infertility, Hyperg... OMIM:227650
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Abnormal rib morphology OMIM:300864
Ciliary Dyskinesia, Primary, 19
Male infertility OMIM:614935
Craniofacial Microsomia
Vertebral hypoplasia, Block vertebrae, Cervical ribs, Blepharophimosis, Ptosis, Scoliosis, Limbal... OMIM:164210
Bloom Syndrome
Intrauterine growth retardation, Small for gestational age, Severe postnatal growth retardation, ... ORPHA:125
Loeys-Dietz Syndrome 3
Dermal translucency, Craniosynostosis, Hip osteoarthritis, Intervertebral disc degeneration, Stri... OMIM:613795
Charge Syndrome
Radial head subluxation, Cryptorchidism, Ptosis, External genital hypoplasia, Abnormal rib morpho... OMIM:214800
Heterotaxy, Visceral, 1, X-Linked
Block vertebrae, Congenital hip dislocation, Absence of the sacrum, Polyhydramnios, Failure to th... OMIM:306955
Mucopolysaccharidosis Type 3
Avascular necrosis of the capital femoral epiphysis, Joint stiffness, Abnormal form of the verteb... ORPHA:581
Thoracic Outlet Syndrome
Edema, Abnormal rib morphology ORPHA:97330
Cystinosis, Nephropathic
Weight loss, Failure to thrive in infancy, Delayed puberty, Hypophosphatemic rickets, Rachitic ro... OMIM:219800
Pagod Syndrome
Abnormal morphology of female internal genitalia, Abnormal rib morphology, Abnormality of the ute... ORPHA:991
Primary Ciliary Dyskinesia
Female infertility, Abnormal sperm motility, Male infertility ORPHA:244
Alagille Syndrome 1
Upslanted palpebral fissure, Abnormal rib morphology, Failure to thrive, Hemivertebrae, Butterfly... OMIM:118450
Dextrocardia
Abnormal reproductive system morphology, Congenital hip dislocation, Pancreatic hypoplasia, Abnor... ORPHA:1666
Ciliary Dyskinesia, Primary, 1
Male infertility OMIM:244400
Autosomal Recessive Malignant Osteopetrosis
Craniosynostosis, Pallor, Recurrent fractures, Growth delay, Abnormal rib morphology, Osteopetros... ORPHA:667
Cystic Fibrosis
Dehydration, Failure to thrive, Male infertility OMIM:219700

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.

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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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