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Gene: Rarb MGI:97857

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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, beta
Synonyms:
Hap,  RAR beta 2,  RARbeta2

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 Rarb mutations

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

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

The table below shows human diseases associated to Rarb by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Matthew-Wood Syndrome
Abnormal lung morphology, Failure to thrive, Pulmonary hypoplasia ORPHA:2470
Microphthalmia, Syndromic 12
Pulmonary hypoplasia OMIM:615524

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
22q11 duplication syndrome
Telecanthus DECIPHER:32
Oculomotor-Levator Synkinesis
Eyelid retraction, Ptosis, Abnormal eyelid morphology OMIM:151610
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonus, Iris colob... ORPHA:231736
Marcus Gunn Phenomenon
Unilateral ptosis, Congenital ptosis OMIM:154600
Ptosis, Hereditary Congenital 1
Congenital ptosis OMIM:178300
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Morning glory anomaly, Remnants of the hyaloid vascular system, Optic nerve ... OMIM:165550
Klippel-Feil Syndrome 3, Autosomal Dominant
Chorioretinal coloboma, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion, Thoraci... OMIM:613702
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold OMIM:617572
Exudative Vitreoretinopathy 3
Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold OMIM:605750
X-Linked Intellectual Disability, Stocco Dos Santos Type
Cataract, Kyphosis, Congenital bilateral hip dislocation, Epicanthus, Short stature, Recurrent re... ORPHA:85288
Kniest Dysplasia
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Abnormal joint morphology, S... ORPHA:485
Spondylocostal Dysostosis 1, Autosomal Recessive
Severe short stature, Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentati... OMIM:277300
Wagner Vitreoretinopathy
Peripheral tractional retinal detachment, Optic atrophy, Exudative vitreoretinopathy, Vitreoretin... OMIM:143200
Wildervanck Syndrome
Pseudopapilledema, Fused cervical vertebrae OMIM:314600
Microcephaly With Cervical Spine Fusion Anomalies
Short stature, Spinal instability, Vertebral fusion OMIM:251250
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae, Congenital ptosis OMIM:192800
Microphthalmia/Coloboma 12
Optic disc coloboma, Chorioretinal coloboma, Optic nerve aplasia, Remnants of the hyaloid vascula... OMIM:120200
Pigmented Paravenous Chorioretinal Atrophy
Bone spicule pigmentation of the retina, Vitreoretinopathy, Paravenous chorioretinal atrophy OMIM:172870
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Abnormal form of the vertebral bodies, Joint stiffness, Ptosis, Posterior fusion of lumbosacral v... ORPHA:2064
Achondrogenesis Type 2
Cataract, Unossified sacrum, Absent vertebral body mineralization, Lens subluxation, Delayed pubi... ORPHA:93296
Wildervanck Syndrome
Lens subluxation, Short neck, Pseudopapilledema, Fused cervical vertebrae ORPHA:3456
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Thoracic hemivertebrae, Short stature, Abnormal sacrum morphology, Scoliosis, Fused cervical vert... ORPHA:1436
Lamb-Shaffer Syndrome
Optic atrophy, Mild postnatal growth retardation, Epicanthus, Fused cervical vertebrae, Scoliosis... ORPHA:530983
Atelis Syndrome 2
Short palpebral fissure, Dacryocystocele, Epicanthus, Vitreous hemorrhage, Remnants of the hyaloi... OMIM:620185
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Flexion contracture, Short neck, Fused thoracic vertebrae, Antecubital pterygium, Tarsal synostos... OMIM:618469
Stickler Syndrome, Type I, Nonsyndromic Ocular
Rhegmatogenous retinal detachment, Optically empty vitreous OMIM:609508
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Exudative Vitreoretinopathy 5
Retinal exudate, Exudative vitreoretinopathy, Falciform retinal fold, Tractional retinal detachment OMIM:613310
Christian Syndrome
Thoracic hemivertebrae, Prominent metopic ridge, Short stature, Scoliosis, Fused cervical vertebrae OMIM:309620
Persistent Hyperplastic Primary Vitreous
Cataract, Hyaloid vascular remnant and retrolental mass, Microcornea, Tractional retinal detachme... ORPHA:91495
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Maternal Uniparental Disomy Of Chromosome 9
Abnormal vertebral morphology, Failure to thrive, Intrauterine growth retardation, Hamstring cont... ORPHA:96183
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Orbital Margin, Hypoplasia Of
Lower eyelid coloboma, Congenital extraocular muscle anomaly, Lacrimal duct atresia OMIM:165600
Chromosome 8Q22.1 Duplication Syndrome
Genu recurvatum, Short palpebral fissure, Microcornea, Limitation of joint mobility, Interphalang... OMIM:151200
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Acetabular dysplasia, Cervical C2/C3 vertebral fusion, Short neck, Ptosis, Thoracolumbar scoliosi... OMIM:616549
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Choroidal neovascularization, Retinal thinning, Epiretinal mem... ORPHA:179
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Growth delay, Downslanted palpebral fissures, Intrauterine growth retardation, Joint hypermobilit... OMIM:617333
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Short neck, Scoliosis, Fused cervical vertebrae OMIM:214300
Neuroocular Syndrome 1
Hooded upper eyelid, Hypoplasia of the fovea, Lens coloboma, Brushfield spots, Iris coloboma, Hyp... OMIM:619539
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Retinal detachment, Retinal dots, Optically empty vitreous OMIM:193230
Autosomal Recessive Stickler Syndrome
Platyspondyly, Cataract, Vitreoretinopathy, Genu valgum, Astigmatism, Joint hypermobility, Retina... ORPHA:250984
Oculo-Palato-Cerebral Syndrome
Cataract, Intrauterine growth retardation, Joint hypermobility, Leukocoria, Retinal detachment, R... ORPHA:2714
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Short neck, Ptosis, Hyperlordosis, Short stature, Kyphosis, Fused cervical vertebrae ORPHA:2522
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Retinal nonattachment, Microcornea, Posterior synechiae of the anterior chamber, Persis... OMIM:221900
Verheij Syndrome
Small for gestational age, Growth delay, Intrauterine growth retardation, Joint hypermobility, Sh... OMIM:615583
2Q24 Microdeletion Syndrome
Cataract, Abnormality iris morphology, Failure to thrive, Downslanted palpebral fissures, Camptod... ORPHA:1617
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Intrauterine growth retardation, Increased susceptibility to fractures, Multip... OMIM:312150
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion, Short palpebral fissure, Overweight, Short stature ORPHA:370010
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Carpal synostosis, Hip contracture, Short neck, Tarsal synostosis, Popliteal pterygium, Cervical ... OMIM:178110
Keratoconus Posticus Circumscriptus
Keratoconus, Limited elbow extension and supination, Short neck, Central posterior corneal opacit... OMIM:244600
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Intrauterine growth retardation, Increased susceptibility to fractures, Multip... OMIM:253290
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Cervical C2/C3 vertebral fusion, Short neck, Abnormal sacrum... ORPHA:2345
Norrie Disease
Optic atrophy, Cataract, Ectopia lentis, Failure to thrive, Hypoplasia of the iris, Abnormal pupi... ORPHA:649
Stickler Syndrome Type 1
Platyspondyly, Cataract, Abnormal vertebral epiphysis morphology, Joint hypermobility, Abnormal v... ORPHA:90653
Retinitis Pigmentosa 13
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... OMIM:600059
Kbg Syndrome
Delayed skeletal maturation, Persistent open anterior fontanelle, Telecanthus, Thick eyebrow, Lon... ORPHA:2332
Microphthalmia, Syndromic 2
Microcornea, Thick eyebrow, Laterally curved eyebrow, Contracture of the proximal interphalangeal... OMIM:300166
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Cataract, Microcornea, Intrauterine growth retardation, Retinopathy, Thoracic scol... OMIM:616171
Multiple Epiphyseal Dysplasia, Beighton Type
Cataract, Limitation of joint mobility, Growth delay, Retinal thinning, Thoracic platyspondyly, J... ORPHA:166011
Stickler Syndrome, Type Iv
Platyspondyly, Cataract, Genu valgum, Astigmatism, Intervertebral space narrowing, Joint hypermob... OMIM:614134
Brachydactyly, Type B1
Joint contracture of the hand, Hypoplastic sacrum, Delayed cranial suture closure, Thoracolumbar ... OMIM:113000
Idiopathic Bronchiectasis
Emphysema, Respiratory tract infection, Cachexia, Acute infectious pneumonia, Recurrent lower res... ORPHA:60033
Spondylocostal Dysostosis 5
Severe short stature, Butterfly vertebrae, Low back pain, Short neck, Disproportionate short-trun... OMIM:122600
Multiple Pterygium Syndrome, Escobar Variant
Intercrural pterygium, Dysplastic patella, Patellar aplasia, Epicanthus, Short neck, Thoracolumba... OMIM:265000
Developmental And Speech Delay Due To Sox5 Deficiency
Optic atrophy, Lumbar hyperlordosis, Butterfly vertebrae, Vertebral fusion, Thoracic kyphoscolios... ORPHA:313892
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Cataract, Sparse eyebrow, Growth delay, Sparse eyelashes, Delayed puberty, Joint contracture, Pul... OMIM:615704
Exudative Vitreoretinopathy 4
Retinal exudate, Exudative vitreoretinopathy, Posterior vitreous detachment, Tractional retinal d... OMIM:601813
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Cataract, Kyphosis, Decreased body weight, Short stature, Reduced bone mineral density, Small for... OMIM:618392
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Cataract, Peters anomaly, Retinal detachment, Remnants of the hyaloid vascular system, Retinal dy... OMIM:614643
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... OMIM:133780
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinal detachment, Retinopathy ORPHA:90654
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Knee dislocation, Shoulder dislocation, Thin eyebrow, Bilateral ptosis, Thoracic scol... OMIM:618000
Myopia, High, With Cataract And Vitreoretinal Degeneration
Lattice retinal degeneration, Retinal detachment, Vitreous floaters, Peripheral vitreoretinal deg... OMIM:614292
Axial Spondylometaphyseal Dysplasia
Platyspondyly, Optic atrophy, Peripheral retinal degeneration, Posterior wedging of vertebral bod... ORPHA:168549
Chops Syndrome
Optic atrophy, Cataract, Tracheomalacia, Aspiration pneumonia, Long eyelashes, Thick eyebrow, Obe... OMIM:616368
Birdshot Chorioretinopathy
Retinal pigment epithelial atrophy, Vitritis, Vitreous floaters, Abnormal chorioretinal morphology OMIM:605808
Kahrizi Syndrome
Cataract, Elbow contracture, Knee flexion contracture, Short stature, Iris coloboma, Thoracic kyp... OMIM:612713
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Sacral dimple, Vertebral segmentation defect OMIM:618845
Shashi-Pena Syndrome
Highly arched eyebrow, Long eyelashes, Intrauterine growth retardation, Cervical C2/C3 vertebral ... OMIM:617190
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
Cataract, Hypermobility of interphalangeal joints, Downslanted palpebral fissures, Kyphoscoliosis... ORPHA:3433
Multiple Synostoses Syndrome 2
Carpal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symphalangism, Vertebr... OMIM:610017
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... OMIM:193235
Fanconi Anemia, Complementation Group I
Intrauterine growth retardation, Astigmatism, Decreased body weight, Short neck, Fused cervical v... OMIM:609053
Pierson Syndrome
Cataract, Retinal vascular tortuosity, Hypopigmentation of the fundus, Hypoplasia of the iris, Ri... OMIM:609049
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Respiratory tract infection, Chronic bronchitis, Weight loss, Honeycomb lung, Hypersen... ORPHA:79127
Cofs Syndrome
Optic atrophy, Cataract, Camptodactyly of finger, Joint stiffness, Intrauterine growth retardatio... ORPHA:1466
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Metatropic Dysplasia
Severe short stature, Cataract, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bo... ORPHA:2635
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Elbow dislocation, Hypoplastic vertebral bodies, Epicanthu... ORPHA:2916
Sifrim-Hitz-Weiss Syndrome
Short palpebral fissure, Upslanted palpebral fissure, Astigmatism, Wormian bones, Epicanthus, Pto... OMIM:617159
Aarskog-Scott Syndrome
Genu recurvatum, Camptodactyly of finger, Downslanted palpebral fissures, Megalocornea, Joint hyp... ORPHA:915
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Platyspondyly, Anisospondyly, Cataract, Hypopigmentation of the fundus, Delayed patellar ossifica... ORPHA:163649
Allergic Bronchopulmonary Aspergillosis
Emphysema, Weight loss, Bronchiectasis ORPHA:1164
Retinitis Pigmentosa 83
Attenuation of retinal blood vessels, Asteroid hyalosis, Vitreous floaters, Cystoid macular edema... OMIM:618173
Spondylo-Ocular Syndrome
Platyspondyly, Cataract, Iris hypopigmentation, Abnormal eyebrow morphology, Joint hypermobility,... ORPHA:85194
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Failure to thrive in infancy, Osteomyelitis, Joint swelling, Pulmonary fibrosis, Oste... OMIM:612852
Bronchopulmonary Dysplasia
Atelectasis, Emphysema, Abnormal lung morphology, Pulmonary sequestration, Small for gestational age ORPHA:70589
Intellectual Developmental Disorder, Autosomal Dominant 52
Lumbar hyperlordosis, Astigmatism, Lumbar scoliosis, Cervical C2/C3 vertebral fusion, Overweight,... OMIM:617796
Pulmonary Atresia With Intact Ventricular Septum
Pulmonary artery atresia OMIM:265150
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... OMIM:305390
Frontometaphyseal Dysplasia 1
Ankle flexion contracture, Partial fusion of tarsals, Interphalangeal joint contracture of finger... OMIM:305620
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Platyspondyly, Cataract, Disproportionate short stature, Abnormal hip joint morphology, Delayed p... ORPHA:1856
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Platyspondyly, Cataract, Hypoplasia of the odontoid process, Irregularity of vertebral bodies, Sh... ORPHA:85172
Irvan Syndrome
Retinal exudate, Optic atrophy, Macular edema, Tractional retinal detachment, Vitreous floaters, ... ORPHA:209943
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Short neck, Abnormal vertebral segmentation and fu... ORPHA:66637
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cataract, Growth delay, Delayed skeletal maturation, Os odontoideum, Attenuation of retinal blood... OMIM:619260
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Platyspondyly, Severe short stature, Postnatal growth retardation, Scoliosis, Genu varum OMIM:618728
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Cataract, Hyperlordosis, Short stature, Scoliosis, Kyphosis, Spinal rigidity OMIM:617404
Neurodevelopmental Disorder With Spastic Diplegia And Visual Defects
Exudative vitreoretinopathy, Optic atrophy, Growth delay, Scoliosis, Small for gestational age OMIM:615075
Fibrodysplasia Ossificans Progressiva
Small cervical vertebral bodies, Ectopic ossification in ligament tissue, Progressive cervical ve... OMIM:135100
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Limitation of joint mobility, Elbow dislocation, Downslanted palpebra... ORPHA:90650
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Cataract, Cervical spinal canal stenosis, Spinal canal stenosis, Genu valgum, Thick eyebrow, Deve... ORPHA:436174
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Atelectasis OMIM:300455
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Elbow contracture, Hyperlordosis, Achilles tendon contracture, Vertebral fusion, Scoliosis, Kyphosis OMIM:606612
Acro-Renal-Ocular Syndrome
Cataract, Short palpebral fissure, Microcornea, Optic disc hypoplasia, Optic disc coloboma, Chori... ORPHA:959
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Cataract, Attenuation of retinal blood vessels, Upslanted palpebral fissure, Bone spicule pigment... OMIM:616108
Duane-Radial Ray Syndrome
Cataract, Optic disc hypoplasia, Retinal coloboma, Epicanthus, Palpebral fissure narrowing on add... OMIM:607323
Stapes Ankylosis With Broad Thumbs And Toes
Proximal/middle symphalangism of 5th finger, Fused cervical vertebrae OMIM:184460
Familial Exudative Vitreoretinopathy
Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional retinal detac... ORPHA:891
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Cataract, Joint hypermobility, Cubitus valgus, Ptosis, Kyphosis ORPHA:1875
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract, Delayed skeletal maturation, Chorioretinal coloboma, Intrauterine growth retardation, E... ORPHA:2489
Full Nf2-Related Schwannomatosis
Posterior subcapsular cataract, Abnormal optic nerve morphology, Epiretinal membrane, Cortical ca... ORPHA:637
Ring Chromosome 21 Syndrome
Short stature, Scoliosis, Fused thoracic vertebrae, Thoracic hemivertebrae ORPHA:1445
Stickler Syndrome, Type I
Platyspondyly, Cataract, Vitreoretinopathy, Joint stiffness, Spondylolisthesis, Morbus Scheuerman... OMIM:108300
Flynn-Aird Syndrome
Cataract, Joint stiffness, Increased bone density with cystic changes, Kyphoscoliosis, Rod-cone d... OMIM:136300
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti... OMIM:616726
Birt-Hogg-Dubé Syndrome
Emphysema, Pneumothorax, Pulmonary sequestration ORPHA:122
Roifman Syndrome
Recurrent pneumonia, Biconvex vertebral bodies, Prominent eyelashes, Downslanted palpebral fissur... OMIM:616651
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Short neck, Scoliosis, Abnormal vertebral segmentation and fusion OMIM:118100
Retinopathy Of Prematurity
Cataract, Abnormal macular morphology, Retinal arteriolar tortuosity, Tractional retinal detachme... ORPHA:90050
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:619466
Spondylocarpotarsal Synostosis Syndrome
Cataract, Block vertebrae, Hypoplasia of the odontoid process, Delayed skeletal maturation, Carpa... OMIM:272460
Chromosome 16Q22 Deletion Syndrome
Highly arched eyebrow, Short palpebral fissure, Failure to thrive, Postnatal growth retardation, ... OMIM:614541
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Bronchiectasis, Atelectasis OMIM:615294
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Hypermobility of interphalangeal joints, Optic nerve hypoplasia, Short palpebral fissure, Thoraci... ORPHA:508498
Koolen-De Vries Syndrome
Cataract, Kyphosis, Upslanted palpebral fissure, Vertebral segmentation defect, Joint hypermobili... ORPHA:96169
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia OMIM:178370
Wagr Syndrome
Cataract, Obesity, Aplasia/Hypoplasia of the iris, Ptosis, Short stature, Scoliosis ORPHA:893
Combined Oxidative Phosphorylation Deficiency 47
Platyspondyly, Cataract, Failure to thrive, Intrauterine growth retardation, Short neck, Ptosis OMIM:618958
Spondylocostal Dysostosis 4, Autosomal Recessive
Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation defect, Short neck,... OMIM:613686
Rhizomelic Chondrodysplasia Punctata
Cataract, Rhizomelia, Limitation of joint mobility, Growth delay, Epiphyseal stippling, Epicanthu... ORPHA:177
Alpha-1-Antitrypsin Deficiency
Bronchiectasis, Panacinar emphysema, Chronic bronchitis OMIM:613490
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal vertebral morphology, Limitation of joint mobility, Genu valgum, Intervertebral space na... ORPHA:93315
Koolen-De Vries Syndrome
Iris hypopigmentation, Cataract, Hip dislocation, Small for gestational age, Failure to thrive, I... OMIM:610443
Hypomelanosis Of Ito
Cataract, Epicanthus, Scoliosis, Iris coloboma, Kyphosis OMIM:300337
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Postnatal growth retardation, Epicanthus, Short neck, Beaking of vertebral bodies, Hyperextensibi... OMIM:213980
Mhc Class I Deficiency 1
Emphysema, Bronchiectasis, Bronchiolitis, Recurrent bronchitis OMIM:604571
Acromelic Frontonasal Dysostosis
Patellar hypoplasia, Downslanted palpebral fissures, Telecanthus, Ptosis, Remnants of the hyaloid... OMIM:603671
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Roifman Syndrome
Recurrent pneumonia, Biconvex vertebral bodies, Prominent eyelashes, Postnatal growth retardation... ORPHA:353298
X-Linked Dominant Chondrodysplasia Punctata
Cataract, Sparse eyebrow, Microcornea, Hypoplastic cervical vertebrae, Downslanted palpebral fiss... ORPHA:35173
Absence Deformity Of Leg-Cataract Syndrome
Cataract, Scoliosis, Hyperlordosis ORPHA:2310
Brachytelephalangic Chondrodysplasia Punctata
Hypoplastic cervical vertebrae, Postnatal growth retardation, Stippling of the epiphyses of the d... ORPHA:79345
Frontometaphyseal Dysplasia
Joint contracture of the hand, Abnormal cornea morphology, Growth delay, Interphalangeal joint co... ORPHA:1826
Heart Defects-Limb Shortening Syndrome
Abnormality of the pulmonary artery ORPHA:1354
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cataract, Delayed skeletal maturation, Obesity, Abnormality of retinal pigmentation, Hyperlordosi... ORPHA:3085
Thakker-Donnai Syndrome
Intrauterine growth retardation, Upslanted palpebral fissure, Cervical C2/C3 vertebral fusion, Lo... ORPHA:1780
Mosaic Trisomy 20
Spinal canal stenosis, Intrauterine growth retardation, Upslanted palpebral fissure, Vertebral se... ORPHA:1724
Microphthalmia, Syndromic 3
Cataract, Optic nerve hypoplasia, Optic nerve aplasia, Postnatal growth retardation, Butterfly ve... OMIM:206900
Rhizomelic Chondrodysplasia Punctata, Type 2
Osteopenia, Rhizomelia, Disproportionate short stature, Cataract, Failure to thrive, Epiphyseal s... OMIM:222765
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:615872
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Platyspondyly, Cataract, Joint stiffness, Osteoarthritis, Abnormal intervertebral disk morphology... ORPHA:1345
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Abnormality of retinal pigmentation, Retinal detachment, Lens subluxation, Microphakia,... ORPHA:171844
Spondyloepiphyseal Dysplasia Congenita
Platyspondyly, Hip dislocation, Hypoplasia of the odontoid process, Atlantoaxial instability, Vit... OMIM:183900
Osteoporosis-Pseudoglioma Syndrome
Exudative vitreoretinopathy, Osteopenia, Increased susceptibility to fractures, Joint hypermobili... ORPHA:2788
Apert Syndrome
Optic atrophy, Downslanted palpebral fissures, Cervical C5/C6 vertebrae fusion, Vertebral segment... ORPHA:87
Oculofaciocardiodental Syndrome
Highly arched eyebrow, Peripheral pulmonary artery stenosis, Cataract, Microcornea, Ectopia lenti... ORPHA:2712
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Short stature, Spina bifida occulta, Butterfly vertebrae, Fused cervical vertebrae OMIM:619227
Lateral Meningocele Syndrome
Downslanted palpebral fissures, Sclerosis of skull base, Telecanthus, Biconcave vertebral bodies,... OMIM:130720
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema OMIM:618307
Gorlin Syndrome
Abnormal vertebral morphology, Iris coloboma, Cataract, Vertebral wedging, Telecanthus, Epicanthu... ORPHA:377
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Hyperlordosis, Achilles tendon contracture, Vertebral fusion, Scoliosis, Kyphosis OMIM:607155
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Cataract, Chorioretinal coloboma, Posterior embryotoxon, Ptosis, Retinal detachmen... ORPHA:1473
Holoprosencephaly 2
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Cyclopia, Scoliosis, Iris coloboma OMIM:157170
Sarcoidosis, Susceptibility To, 2
Emphysema, Pleural effusion, Pneumothorax, Abnormal pulmonary interstitial morphology, Pulmonary ... OMIM:612387
Pontocerebellar Hypoplasia, Type 16
Optic atrophy, Ptosis, Scoliosis, Cataract OMIM:619527
X-Linked Intellectual Disability, Najm Type
Optic atrophy, Cataract, Failure to thrive, Chorioretinal coloboma, Scoliosis, Optic nerve hypopl... ORPHA:163937
Eales Disease
Macular edema, Retinal thinning, Peripheral retinal neovascularization, Vitritis, Epiretinal memb... ORPHA:40923
Larsen Syndrome
Spondylolysis, Cervical kyphosis, Hypoplastic cervical vertebrae, Elbow dislocation, Tracheomalac... OMIM:150250
Baralle-Macken Syndrome
Upslanted palpebral fissure, Obesity, Kyphosis, Cataract OMIM:619255
Distal Duplication 6P
Cataract, Abnormal lung lobation, Intrauterine growth retardation, Short neck, Ptosis, Blepharoph... ORPHA:1745
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema OMIM:210050
Cone-Rod Dystrophy 16
Cataract, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sh... OMIM:614500
Aicardi Syndrome
Optic atrophy, Block vertebrae, Recurrent pneumonia, Cataract, Sparse lateral eyebrow, Optic disc... OMIM:304050
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cataract, Microcornea, Intrauterine growth retardation, Abnormality of the cervical spine, Finger... ORPHA:48431
Vitamin K Antagonist Embryofetopathy
Optic atrophy, Cataract, Punctate vertebral calcifications, Epiphyseal stippling, Intrauterine gr... ORPHA:1914
Linear Verrucous Nevus Syndrome
Genu recurvatum, Cataract, Abnormal cornea morphology, Reduced bone mineral density, Retinopathy,... ORPHA:2611
Alkaptonuria
Limited hip movement, Brown pigmentation of the conjunctiva, Intervertebral disk degeneration, Ar... OMIM:203500
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Platyspondyly, Hip osteoarthritis, Hump-shaped mound of bone in central and posterior portions of... OMIM:313400
Otopalatodigital Syndrome Type 2
Cataract, Pulmonary hypoplasia, Synostosis of carpal bones, Elbow dislocation, Failure to thrive,... ORPHA:90652
Schwartz-Jampel Syndrome, Type 1
Joint contracture of the hand, Hip contracture, Short neck, Blepharophimosis, Narrow palpebral fi... OMIM:255800
Three M Syndrome 1
Small for gestational age, Joint dislocation, Delayed skeletal maturation, Postnatal growth retar... OMIM:273750
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Abnormal optic disc morphology, Vitreoretinopathy, Retinal vascular tortuosity ORPHA:440727
Oculoauricular Syndrome
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Retin... OMIM:612109
Duane Retraction Syndrome
Blepharospasm, Short palpebral fissure, Microcornea, Abnormal form of the vertebral bodies, Chori... ORPHA:233
Even-Plus Syndrome
Severe short stature, Highly arched eyebrow, Cataract, Short neck, Vertebral clefting, Coronal cl... OMIM:616854
Stickler Syndrome, Type V
Retinal detachment, Vitreoretinopathy OMIM:614284
Cardiofaciocutaneous Syndrome 4
Cataract, Telecanthus, Joint hypermobility, Sparse eyelashes, Epicanthus, Ptosis, Absent eyebrow,... OMIM:615280
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cataract, Abnormality of retinal pigmentation, Optic disc pallor, Retinal detachment, Chorioretin... OMIM:251270
Arthrogryposis, Distal, Type 2A
Joint contracture of the hand, Postnatal growth retardation, Hip contracture, Epicanthus, Short n... OMIM:193700
Srd5A3-Cdg
Optic atrophy, Cataract, Optic disc hypoplasia, Coloboma, Rod-cone dystrophy, Abnormal sacrum mor... ORPHA:324737
Codas Syndrome
Congenital hip dislocation, Cataract, Abnormal form of the vertebral bodies, Delayed skeletal mat... ORPHA:1458
Kbg Syndrome
Delayed skeletal maturation, Downslanted palpebral fissures, Telecanthus, Thick eyebrow, Long pal... OMIM:148050
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Optic atrophy, Cataract, Failure to thrive, Long eyelashes, Thick eyebrow, Intrauterine growth re... OMIM:619833
Kniest Dysplasia
Platyspondyly, Delayed epiphyseal ossification, Rhizomelia, Cataract, Limitation of joint mobilit... OMIM:156550
Alpha-Mannosidosis
Synostosis of joints, Cataract, Delayed skeletal maturation, Short neck, Arthritis, Corneal opaci... ORPHA:61
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Retinal exudate, Posterior vitreous detachment, Tractional retinal d... OMIM:616468
Caudal Regression Syndrome
Pulmonary hypoplasia, Aplasia/Hypoplasia of the sacrum, Joint stiffness, Hypoplastic vertebral bo... ORPHA:3027
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the patella, Genu varum, Patellar dislocation, Scoliosis, Hip dislocation, ... ORPHA:3320
Retinitis Pigmentosa 4
Cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spi... OMIM:613731
Hypophosphatasia
Emphysema, Failure to thrive in infancy ORPHA:436
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Pigmentary retinopathy, Joint contracture of the hand, Cataract, Attenuation of re... OMIM:609033
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Coronal craniosynostosis, Pulmonary hypoplasia, Failure to thrive, Downslanted palpebral fissures... ORPHA:83617
Aspergillosis
Pneumonia, Dacryocystitis, Keratitis, Abnormality of the vertebral column, Osteomyelitis, Pleural... ORPHA:1163
Nevus Comedonicus Syndrome
Abnormal vertebral morphology, Spina bifida occulta, Scoliosis, Cataract ORPHA:64754
3Mc Syndrome
Highly arched eyebrow, Caudal appendage, Downslanted palpebral fissures, Postnatal growth retarda... ORPHA:293843
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Optic atrophy, Scoliosis, Joint contracture, Cataract OMIM:617481
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Optic atrophy, Cataract, Upslanted palpebral fissure, Delayed puberty, Corneal opacity, Scoliosis... ORPHA:496790
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... OMIM:610921
Osteoporosis-Pseudoglioma Syndrome
Platyspondyly, Osteopenia, Cataract, Vitreoretinopathy, Pathologic fracture, Recurrent fractures,... OMIM:259770
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Abnormal vertebral morphology, Highly arched eyebrow, Cataract, Tracheomalacia, Aspiration pneumo... ORPHA:444077
Microphthalmia, Isolated 5
Cataract, Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule... OMIM:611040
Basal Cell Nevus Syndrome 1
Iris coloboma, Cataract, Vertebral wedging, Kyphoscoliosis, Orbital cyst, Hemivertebrae, Irregula... OMIM:109400
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome
Abnormality of the pulmonary artery ORPHA:1065
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent pneumonia, Failure to thrive, Emphysema, Recurrent bronchopulmonary infections, Bronchi... OMIM:242700
Coats Disease
Cataract, Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Abnormal retinal vascular ... ORPHA:190
Cardiospondylocarpofacial Syndrome
Failure to thrive, Delayed skeletal maturation, Carpal synostosis, Fusion of middle ear ossicles,... OMIM:157800
Retinitis Pigmentosa 9
Cataract, Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atr... OMIM:180104
Ritscher-Schinzel Syndrome 3
Highly arched eyebrow, Chorioretinal coloboma, Downslanted palpebral fissures, Postnatal growth r... OMIM:619135
Atelosteogenesis, Type I
Rhizomelia, Disproportionate short-limb short stature, Elbow dislocation, Knee dislocation, Thora... OMIM:108720
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Block vertebrae, Supernumerary vertebrae, Short neck, Hemivertebrae, Vertebral fusion, Scoliosis,... OMIM:271520
Arnold-Chiari Malformation Type I
Stiff neck, Cervical C2/C3 vertebral fusion, Anteriorly placed odontoid process, Scoliosis, Fused... ORPHA:268882
Neonatal Adrenoleukodystrophy
Optic atrophy, Cataract, Abnormality of retinal pigmentation, Ptosis, Short stature, Wide anterio... ORPHA:44
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Cataract, Horizontal eyebrow, Retinal coloboma, Astigmatism, Epicanthus, Short neck, Narrow palpe... OMIM:618571
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Atelectasis OMIM:267450
Flynn-Aird Syndrome
Cataract, Joint stiffness, Cachexia, Rod-cone dystrophy, Scoliosis, Kyphosis ORPHA:2047
Sialidosis Type 1
Cataract, Abnormal form of the vertebral bodies, Delayed skeletal maturation, Cherry red spot of ... ORPHA:812
Cerebrooculofacioskeletal Syndrome 2
Cataract, Camptodactyly of finger, Intrauterine growth retardation, Kyphoscoliosis, Developmental... OMIM:610756
Stickler Syndrome
Slender build, Genu valgum, Abnormal vitreous humor morphology, Epicanthus, Cachexia, Retinal det... ORPHA:828
Aicardi Syndrome
Optic atrophy, Block vertebrae, Sparse lateral eyebrow, Chorioretinal coloboma, Optic disc colobo... ORPHA:50
Warburg Micro Syndrome 3
Optic atrophy, Cataract, Microcornea, Postnatal growth retardation, Ankle clonus, Kyphoscoliosis,... OMIM:614222
Chondrodysplasia Punctata 2, X-Linked Dominant
Cataract, Sparse eyebrow, Rhizomelia, Failure to thrive, Downslanted palpebral fissures, Postnata... OMIM:302960
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Platyspondyly, Rhizomelia, Abnormality of macular pigmentation, Optic disc coloboma, Retinal thin... OMIM:608940
Myhre Syndrome
Platyspondyly, Cataract, Limitation of joint mobility, Enlarged vertebral pedicles, Joint stiffne... OMIM:139210
Trisomy 13
Optic atrophy, Cataract, Abnormal lung lobation, Intrauterine growth retardation, Aplasia/Hypopla... ORPHA:3378
Mucopolysaccharidosis, Type Vii
Hypoplasia of the odontoid process, Limitation of joint mobility, Postnatal growth retardation, G... OMIM:253220
Marden-Walker Syndrome
Joint contracture of the hand, Congenital contracture, Postnatal growth retardation, Intrauterine... OMIM:248700
Retinitis Pigmentosa 84
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... OMIM:618220
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Cataract, Retinal thinning, Genu valgum, Asteroid hyalosis, Short stature OMIM:132450
Stickler Syndrome, Type Ii
Cataract, Joint hypermobility, Arthropathy, Abnormal vitreous humor morphology, Retinal detachment OMIM:604841
Apert Syndrome
Lambdoidal craniosynostosis, Delayed epiphyseal ossification, Coronal craniosynostosis, Synostosi... OMIM:101200
Waardenburg Syndrome Type 2
Abnormality of the pulmonary artery ORPHA:895
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Optic atrophy, Microcornea, Cataract, Myopic astigmatism, Downslanted palpebral fissures, Upslant... OMIM:152950
Dyssegmental Dysplasia, Silverman-Handmaker Type
Severe short stature, Anisospondyly, Cataract, Disproportionate short-limb short stature, Pterygi... OMIM:224410
Recurrent Respiratory Papillomatosis
Recurrent upper respiratory tract infections, Recurrent pneumonia, Failure to thrive, Atelectasis... ORPHA:60032
9Q21.13 Microdeletion Syndrome
Postnatal growth retardation, Vertebral segmentation defect, Long palpebral fissure, Ptosis, Cran... ORPHA:531151
Joubert Syndrome 9
Cataract, Scoliosis, Astigmatism, Retinal dystrophy OMIM:612285
Frontometaphyseal Dysplasia 2
Congenital hip dislocation, Elbow contracture, Downslanted palpebral fissures, Thick eyebrow, Hip... OMIM:617137
Fanconi Renotubular Syndrome 5
Emphysema, Pulmonary fibrosis, Lung adenocarcinoma OMIM:618913
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Bronchiectasis, Atelectasis ORPHA:922
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormal aortic morphology, Abnormality of the pulmonary artery ORPHA:1166
Mucolipidosis Type Iii Alpha/Beta
Recurrent upper respiratory tract infections, Postnatal growth retardation, Joint stiffness, Kyph... ORPHA:423461
Bronchogenic Cyst
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Abnormal l... ORPHA:2357
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retin... OMIM:309300
Short Tarsus With Absence Of Lower Eyelashes
Hypoplasia of the lower eyelids, Absent lower eyelashes OMIM:600269
Leber Congenital Amaurosis 8
Cataract, Pigmentary retinopathy, Keratoconus, Nummular pigmentation of the fundus, Choriocapilla... OMIM:613835
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Cataract, Microcornea, Abnormal lung lobation, Aplasia/Hypoplasia of the lungs, Se... ORPHA:3301
Waardenburg Syndrome Type 3
Synostosis of carpal bones, Tracheomalacia, Atelectasis, Camptodactyly of finger, Downslanted pal... ORPHA:896
Robinow Syndrome, Autosomal Recessive 1
Thoracic hemivertebrae, Delayed cranial suture closure, Epicanthus, Short neck, Thoracolumbar sco... OMIM:268310
Chromosome 16P13.3 Duplication Syndrome
Cervical C5/C6 vertebrae fusion, Upslanted palpebral fissure, Epicanthus, Short neck, Ptosis, Nar... OMIM:613458
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane, Retinal detachment OMIM:620253
Maternal Uniparental Disomy Of Chromosome 2
Abnormality of the ankle, Contractures of the large joints, Postnatal growth retardation, Intraut... ORPHA:96179
Wolf-Hirschhorn Syndrome
Ectopia pupillae, Radioulnar synostosis, Epicanthus, Iris coloboma, Hip dislocation, Delayed skel... OMIM:194190
Jaberi-Elahi Syndrome
Optic atrophy, Sparse eyebrow, Cataract, Failure to thrive, Joint stiffness, Joint hypermobility,... OMIM:617988
Papillorenal Syndrome
Cataract, Macular degeneration, Lens luxation, Optic disc coloboma, Retinal coloboma, Chorioretin... OMIM:120330
Meier-Gorlin Syndrome 1
Joint contracture of the hand, Elbow dislocation, Genu valgum, Patellar aplasia, Aplasia/Hypoplas... OMIM:224690
Microphthalmia, Lenz Type
Cataract, Microcornea, Ankyloblepharon, Chorioretinal coloboma, Optic disc coloboma, Camptodactyl... ORPHA:568
Enhanced S-Cone Syndrome
Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema OMIM:268100
Micro Syndrome
Optic atrophy, Cataract, Microcornea, Retinal coloboma, Joint stiffness, Intrauterine growth reta... ORPHA:2510
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Cataract, Retinal degeneration, Coloboma, Flexion contracture, Scoliosis OMIM:615249
Cenani-Lenz Syndrome
Synostosis of joints, Cataract, Synostosis of carpal bones, Abnormal form of the vertebral bodies... ORPHA:3258
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Cataract, Pigmentary retinopathy, Osteomyelitis, Flexion contracture of finger, Bone spicule pigm... ORPHA:88628
Pseudopseudohypoparathyroidism
Cataract, Obesity, Short neck, Short stature, Osteoporosis OMIM:612463
Nasopalpebral Lipoma-Coloboma Syndrome
Hamartoma of the orbital region, Recurrent upper respiratory tract infections, Sparse eyebrow, Ca... ORPHA:2399
Severe Oculo-Renal-Cerebellar Syndrome
Optic atrophy, Cataract, Abnormality of retinal pigmentation, Joint hypermobility, Abnormal retin... ORPHA:2715
Chondrodysplasia Punctata 1, X-Linked Recessive
Short stature, Cataract, Epiphyseal stippling, Abnormality of the vertebral column OMIM:302950
Cole-Carpenter Syndrome 2
Platyspondyly, Lambdoidal craniosynostosis, Osteopenia, Coronal craniosynostosis, Downslanted pal... OMIM:616294
Thrombocytopenia-Absent Radius Syndrome
Cataract, Carpal synostosis, Patellar aplasia, Carpal bone hypoplasia, Ptosis, Corneal opacity, G... OMIM:274000
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Delayed epiphyseal ossification, Osteopenia, Congenital hip dislocation, Hypoplasia of the odonto... OMIM:616007
Marshall Syndrome
Platyspondyly, Cataract, Vitreoretinopathy, Knee osteoarthritis, Epicanthus, Retinal detachment, ... OMIM:154780
Elsahy-Waters Syndrome
Cataract, Downslanted palpebral fissures, Megalocornea, Thick eyebrow, Cervical C2/C3 vertebral f... OMIM:211380
Marfan Syndrome
Slender build, Limited elbow movement, Cachexia, Retinal detachment, Flat cornea, Lens luxation, ... ORPHA:558
3Mc Syndrome 1
Lambdoidal craniosynostosis, Coronal craniosynostosis, Highly arched eyebrow, Caudal appendage, D... OMIM:257920
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atlantoaxial dislocation, Postnatal growth retardation, Radioulnar synostosis, Beaking of vertebr... ORPHA:536467
Loeys-Dietz Syndrome 4
Ectopia lentis, Downslanted palpebral fissures, Emphysema, Spondylolisthesis, Joint hypermobility... OMIM:614816
Knobloch Syndrome 1
Band keratopathy, Horizontal eyebrow, Vitreoretinopathy, Telecanthus, Attenuation of retinal bloo... OMIM:267750
Bcard Syndrome
Platyspondyly, Osteopenia, Cataract, Contracture of the proximal interphalangeal joint of the 2nd... OMIM:612394
De Barsy Syndrome
Abnormal fundus fluorescein angiography, Osteopenia, Congenital hip dislocation, Cataract, Failur... ORPHA:2962
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Cataract, Microcornea, Decreased body weight, Coloboma, Osteopetrosis, Shallow orbits, Iris trans... OMIM:617306
3Mc Syndrome 2
Abnormal vertebral morphology, Highly arched eyebrow, Caudal appendage, Abnormality of the verteb... OMIM:265050
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Lung ade... ORPHA:2302
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Recurrent respiratory infections ORPHA:3348
Idiopathic Chronic Eosinophilic Pneumonia
Weight loss, Hypersensitivity pneumonitis, Pleural effusion, Atelectasis ORPHA:2902
Saul-Wilson Syndrome
Platyspondyly, Cataract, Hypoplasia of the odontoid process, Postnatal growth retardation, Intrau... OMIM:618150
Frontofacionasal Dysplasia
Cataract, Microcornea, Telecanthus, Limbal dermoid, Absent inner eyelashes, Upper eyelid coloboma... ORPHA:1791
Infant Acute Respiratory Distress Syndrome
Pneumonia, Pulmonary edema, Respiratory tract infection, Atelectasis ORPHA:70587
Ruijs-Aalfs Syndrome
Cataract, Posterior subcapsular cataract, Delayed skeletal maturation, Elbow flexion contracture,... OMIM:616200
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Abnormal optic nerve morphology, Camptodactyly of finger, Megalocornea, Aniridia, Abnormal vitreo... ORPHA:1101
Chromosome 8Q21.11 Deletion Syndrome
Cataract, Short palpebral fissure, Pigmentary retinopathy, Downslanted palpebral fissures, Epican... OMIM:614230
Marshall Syndrome
Cataract, Sparse eyebrow, Ectopia lentis, Vitreoretinopathy, Genu valgum, Sparse eyelashes, Abnor... ORPHA:560
Marfan Syndrome
Genu recurvatum, Cataract, Microspherophakia, Pulmonary artery dilatation, Ectopia lentis, Downsl... OMIM:154700
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Nodular p... ORPHA:79126
Phacoanaphylactic Uveitis
Anterior chamber flare grade 1+, Macular edema, Hypopyon, Posterior synechiae of the anterior cha... ORPHA:209959
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cataract, Pigmentary retinopathy, Joint contracture of the hand, Failure to thrive, Intrauterine ... OMIM:214110
Faciodigitogenital Syndrome, Autosomal Recessive
Downslanted palpebral fissures, Proportionate short stature, Long palpebral fissure, Hyperextensi... OMIM:227330
Alpha-1-Antitrypsin Deficiency
Emphysema, Bronchiectasis, Bronchitis ORPHA:60
Farber Disease
Recurrent upper respiratory tract infections, Macular degeneration, Failure to thrive, Atelectasi... ORPHA:333
Kapur-Toriello Syndrome
Cataract, Joint contracture of the hand, Retinal coloboma, Camptodactyly of finger, Intrauterine ... OMIM:244300
3Q29 Microduplication Syndrome
Cataract, Downslanted palpebral fissures, Aniridia, Obesity, Camptodactyly of toe, Short neck, Sc... ORPHA:251038
Duodenal Atresia
Abnormality of the pulmonary artery ORPHA:1203
Juvenile Sialidosis Type 2
Optic atrophy, Cataract, Abnormal form of the vertebral bodies, Cherry red spot of the macula, Co... ORPHA:93399
Acute Zonal Occult Outer Retinopathy
Abnormal fundus fluorescein angiography, Pigmentary retinopathy, Vitreous inflammatory cells, Mar... ORPHA:284454
Mevalonic Aciduria
Cataract, Nuclear cataract, Failure to thrive, Downslanted palpebral fissures, Failure to thrive ... OMIM:610377
Vogt-Koyanagi-Harada Disease
Cataract, Abnormal eyebrow morphology, Retinal detachment, Short stature, Abnormal eyelash morpho... ORPHA:3437
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ... OMIM:617319
Intermediate Uveitis
Macular edema, Epiretinal membrane, Vitreous floaters, Cystoid macular edema, Optic neuritis, Vit... ORPHA:279914
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Emphysema, Pulmonary fibrosis OMIM:620365
Bardet-Biedl Syndrome 9
Cataract, Obesity, Attenuation of retinal blood vessels, Astigmatism, Retinal degeneration, Bone ... OMIM:615986
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... ORPHA:2334
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... ORPHA:3109
Charcot-Marie-Tooth Disease Type 4B2
Optic atrophy, Cataract, Kyphoscoliosis, Ptosis, Buphthalmos, Scoliosis, Developmental glaucoma ORPHA:99956
Meier-Gorlin Syndrome 4
Emphysema, Failure to thrive OMIM:613804
Hallermann-Streiff Syndrome
Iris coloboma, Recurrent pneumonia, Decreased number of sternal ossification centers, Sparse eyeb... OMIM:234100
Harrod Syndrome
Cataract, Failure to thrive, Intrauterine growth retardation, Joint hypermobility, Scoliosis, Kyp... ORPHA:2115
Knobloch Syndrome
Cataract, Macular degeneration, Ectopia lentis, Vitreoretinopathy, Joint hypermobility, Abnormal ... ORPHA:1571
Spondyloocular Syndrome
Platyspondyly, Osteopenia, Cataract, Posterior subcapsular cataract, Decreased body weight, Femur... OMIM:605822
Proteus-Like Syndrome
Genu recurvatum, Cataract, Bronchogenic cyst, Downslanted palpebral fissures, Abnormal pupil morp... ORPHA:2969
Hajdu-Cheney Syndrome
Decreased skull ossification, Short neck, Patellar dislocation, Iris coloboma, Osteopenia, Catara... ORPHA:955
Autosomal Dominant Cutis Laxa
Genu recurvatum, Osteopenia, Peripheral pulmonary artery stenosis, Bronchiolitis, Hip dislocation... ORPHA:90348
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Cataract, Obesity, Rod-cone dystrophy, Retinal coloboma OMIM:601794
Congenital Rubella Syndrome
Abnormality of the pulmonary artery ORPHA:290
Werner Syndrome
Cataract, Retinal degeneration, Low back pain, Short stature, Osteoporosis, Reduced bone mineral ... OMIM:277700
Meconium Aspiration Syndrome
Pneumothorax, Atelectasis, Aspiration pneumonia ORPHA:70588
Lymphedema-Hypoparathyroidism Syndrome
Cataract, Increased carrying angle, Telecanthus, Ptosis, Pulmonary lymphangiectasia, Short stature OMIM:247410
Frontorhiny
Cataract, Camptodactyly of finger, Lumbar hyperlordosis, Epicanthus, Ptosis, Scoliosis, Iris colo... ORPHA:391474
Nail-Patella Syndrome
Keratoconus, Microcornea, Cataract, Patellar hypoplasia, Lumbar hyperlordosis, Limited elbow exte... OMIM:161200
Immunodeficiency 89 And Autoimmunity
Recurrent lower respiratory tract infections, Pulmonary bulla, Bronchiectasis, Pleural thickening OMIM:619632
Developmental Malformations-Deafness-Dystonia Syndrome
Short stature, Cataract, Scoliosis, Kyphosis ORPHA:79107
Common Variable Immunodeficiency
Pneumonia, Emphysema, Failure to thrive in infancy, Recurrent bronchitis, Recurrent respiratory i... ORPHA:1572
Aniridia 1
Chorioretinal hypopigmentation, Cataract, Ectopia lentis, Retinal vascular tortuosity, Bilateral ... OMIM:106210
Dystonia-Deafness Syndrome 1
Cataract, Small for gestational age, Kyphoscoliosis OMIM:607371
Schwartz-Jampel Syndrome
Elbow dislocation, Genu valgum, Hip contracture, Decreased body weight, Short neck, Cachexia, Ble... ORPHA:800
Idiopathic Panuveitis
Choroidal neovascularization, Epiretinal membrane, Vitreous floaters, Cystoid macular edema, Vitr... ORPHA:280921
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Cataract, Abnormal form of the vertebral bodies, Osteolysis, Downslanted palpebral fissures, Hip ... ORPHA:3042
Oligoarticular Juvenile Idiopathic Arthritis
Cataract, Rheumatoid arthritis, Abnormality of the ankle, Failure to thrive, Band keratopathy, Jo... ORPHA:85410
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Chorioretinal coloboma, Corneal scarring, Retinal detachment, Macular atrophy, Buphthal... OMIM:212550
Osteogenesis Imperfecta
Enlarged vertebral pedicles, Genu valgum, Decreased skull ossification, Dislocated radial head, P... ORPHA:666
Blomstrand Lethal Chondrodysplasia
Platyspondyly, Synostosis of joints, Rhizomelia, Neonatal short-limb short stature, Cataract, Tel... ORPHA:50945
Netherton Syndrome
Emphysema, Recurrent respiratory infections ORPHA:634
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Fa... ORPHA:95430
Weill-Marchesani Syndrome 1
Cataract, Microspherophakia, Ectopia lentis, Spinal canal stenosis, Joint stiffness, Lumbar hyper... OMIM:277600
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Optic atrophy, Bronchiectasis, Interstitial emphysema, Knee flexion contracture, Kyphosis, Pulmon... OMIM:619708
Generalized Arterial Calcification Of Infancy
Choroidal neovascularization, Osteomalacia, Failure to thrive in infancy, Abnormal hip joint morp... ORPHA:51608
Monosomy 9Q22.3
Cataract, Abnormality of the vertebral column, Downslanted palpebral fissures, Large for gestatio... ORPHA:77301
Neu-Laxova Syndrome
Osteopenia, Cataract, Rickets, Arthrogryposis multiplex congenita, Osteomalacia, Pterygium, Intra... ORPHA:2671
Microphthalmia With Linear Skin Defects Syndrome
Severe short stature, Failure to thrive, Sacral dimple, Abnormality of retinal pigmentation, Abno... ORPHA:2556
Codas Syndrome
Congenital hip dislocation, Cataract, Hypoplasia of the odontoid process, Delayed skeletal matura... OMIM:600373
1Q21.1 Microdeletion Syndrome
Cataract, Failure to thrive, Intrauterine growth retardation, Joint hypermobility, Epicanthus, Sh... ORPHA:250989
Sponastrime Dysplasia
Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Epicanthus, Microcoria, ... ORPHA:93357
Cutis Laxa, Autosomal Recessive, Type Ia
Emphysema, Peripheral pulmonary artery stenosis, Recurrent respiratory infections, Ascending tubu... OMIM:219100
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Osteopenia, Atelectasis, Osteomyelitis, Joint hypermobility, Craniosynostosis, Recurrent respirat... ORPHA:2314
Cog1-Cdg
Osteopenia, Rhizomelia, Failure to thrive, Abnormal macular morphology, Downslanted palpebral fis... ORPHA:263508
Lathosterolosis
Cataract, Microcornea, Failure to thrive, Downslanted palpebral fissures, Intrauterine growth ret... ORPHA:46059
Jacobsen Syndrome
Cataract, Microcornea, Growth delay, Abnormal form of the vertebral bodies, Downslanted palpebral... ORPHA:2308
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Retinal vein occlusion, Phakodo... OMIM:177650
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atelectasis, Cystic pattern on pulmonary HRCT, Recurrent respiratory infections, Pulmonary fibros... OMIM:610978
Alagille Syndrome 1
Cataract, Peripheral pulmonary artery stenosis, Pigmentary retinopathy, Microcornea, Failure to t... OMIM:118450
Fuchs Heterochromic Iridocyclitis
Chorioretinal scar, Cataract, Corneal keratic precipitates, Anterior chamber inflammatory cells, ... ORPHA:263479
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Optic atrophy, Cataract, Ectopia lentis, Joint stiffness, Genu valgum, Recurrent fractures, Abnor... ORPHA:394
Morning Glory Disc Anomaly
Cataract, Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Chondrodysplasia Punctata, Autosomal Dominant
Cataract, Moderate postnatal growth retardation, Epiphyseal stippling, Hip contracture, Knee flex... OMIM:118650
Simpson-Golabi-Behmel Syndrome
Congenital hip dislocation, Camptodactyly of finger, Downslanted palpebral fissures, Vertebral se... ORPHA:373
Meier-Gorlin Syndrome 6
Severe short stature, Failure to thrive, Recurrent respiratory infections, Delayed skeletal matur... OMIM:616835
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic atrophy, Cataract, Rickets, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Sh... OMIM:268315
Hypocomplementemic Urticarial Vasculitis
Joint dislocation, Emphysema, Pleural effusion, Arthritis, Conjunctivitis ORPHA:36412
Diabetic Embryopathy
Abnormal aortic morphology, Abnormality of the pulmonary artery ORPHA:1926
Aymé-Gripp Syndrome
Cataract, Limitation of joint mobility, Delayed cranial suture closure, Downslanted palpebral fis... ORPHA:1272
Incontinentia Pigmenti
Optic atrophy, Cataract, Keratitis, Kyphoscoliosis, Hypoplasia of the fovea, Retinal vascular pro... OMIM:308300
Microphthalmia, Syndromic 5
Cataract, Microcornea, Joint hypermobility, Coloboma, Short stature, Retinal dystrophy, Optic ner... OMIM:610125
Klippel-Trénaunay Syndrome
Abnormality of the pulmonary artery ORPHA:90308
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Retinal detachment, Iris transillumination defect, Pe... OMIM:225200
Weill-Marchesani Syndrome 2
Cataract, Microspherophakia, Ectopia lentis, Delayed skeletal maturation, Spinal canal stenosis, ... OMIM:608328
Neu-Laxova Syndrome 2
Cataract, Intrauterine growth retardation, Short neck, Ablepharon, Scoliosis OMIM:616038
Aniridia 2
Optic atrophy, Cataract, Aniridia, Lens subluxation, Iris coloboma OMIM:617141
Primary Ciliary Dyskinesia
Atelectasis, Pulmonary situs ambiguus, Respiratory tract infection, Peribronchovascular interstit... ORPHA:244
Lymphangioleiomyomatosis
Chylothorax, Atelectasis, Emphysema, Pulmonary lymphangiomyomatosis, Pneumothorax, Cognitive impa... ORPHA:538
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Severe short stature, Optic atrophy, Cataract, Chylothorax, Abnormal optic nerve morphology, Pleu... ORPHA:2526
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Pulmonary Hypertension, Primary, 1
Pulmonary artery vasoconstriction, Pulmonary aterial intimal fibrosis, Pulmonary arterial medial ... OMIM:178600
Norrie Disease
Optic atrophy, Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Buphthalmos... OMIM:310600
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Rickets, Failure to thrive, Delayed skeletal maturation, Growth delay, Emphysema, Sle... OMIM:613658
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Atelectasis, Failure to thrive, Pleural effusion, Rec... OMIM:620233
Mend Syndrome
Cataract, Failure to thrive, Upslanted palpebral fissure, Anterior polar cataract, Macular hypopl... OMIM:300960
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Rhizomelia, Microcornea, Ectopia pupillae, Cryptophthalmos, Long eyelashes, Epicanthus,... OMIM:615877
Aniridia-Absent Patella Syndrome
Cataract, Aniridia, Ptosis, Aplasia/Hypoplasia of the patella ORPHA:1069
Rothmund-Thomson Syndrome, Type 2
Congenital hip dislocation, Sparse eyebrow, Cataract, Microcornea, Sparse eyelashes, Absent eyela... OMIM:268400
Cutis Laxa, Autosomal Recessive, Type Iid
Cataract, Failure to thrive, Downslanted palpebral fissures, Kyphoscoliosis, Pneumothorax, Entrop... OMIM:617403
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Abnormal aortic arch morphology, Anomalous origin of right pulmonary artery from ascending aorta,... ORPHA:99050
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Optic atrophy, Sparse eyebrow, Downslanted palpebral fissures, Emphysema, Failure to thrive in in... ORPHA:500150
Dextrocardia
Abnormal pulmonary situs morphology, Abnormality of the pulmonary artery, Abnormal lung lobation ORPHA:1666
Monosomy 13Q14
Cataract, Intrauterine growth retardation, Retinoblastoma, Epicanthus, Short neck, Ptosis, Short ... ORPHA:1587
X-Linked Mandibulofacial Dysostosis
Abnormality of the pulmonary artery ORPHA:1131
Antiphospholipid Syndrome, Familial
Central retinal artery occlusion, Retinal detachment, Retinal vasculitis, Vitritis OMIM:107320
Robinow Syndrome
Kyphoscoliosis, Hemivertebrae, Fused thoracic vertebrae, Short stature, Scoliosis, Small for gest... ORPHA:97360
Cutis Laxa, Autosomal Dominant 1
Emphysema, Peripheral pulmonary artery stenosis, Bronchiectasis OMIM:123700
Mend Syndrome
Wide anterior fontanel, Cataract, Failure to thrive, Telecanthus, Upslanted palpebral fissure, Sh... ORPHA:401973
Sarcoidosis, Susceptibility To, 1
Enlarged lacrimal glands, Emphysema, Pleural effusion, Chorioretinitis, Weight loss, Optic neurop... OMIM:181000
Heterotaxy, Visceral, 1, X-Linked
Congenital hip dislocation, Total anomalous pulmonary venous return, Absence of the sacrum, Block... OMIM:306955
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic root aneurysm, Emphysema, Aortic atherosclerotic lesion, Abnormality of the pulmonary arte... ORPHA:363618
Neonatal Marfan Syndrome
Ectopia lentis, Downslanted palpebral fissures, Emphysema, Megalocornea, Joint hypermobility, Iri... ORPHA:284979
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Cataract, Downslanted palpebral fissures, Retinal coloboma, Large for gestational age, Astigmatis... ORPHA:500095
Ciliary Dyskinesia, Primary, 1
Pneumonia, Bronchiectasis, Recurrent bronchitis, Atelectasis OMIM:244400
Frontofacionasal Dysplasia
Cataract, Hypoplasia of the frontal bone, Ankyloblepharon, Microcornea, Telecanthus, Absent inner... OMIM:229400
Fabry Disease
Optic atrophy, Cataract, Emphysema, Conjunctival telangiectasia, Cornea verticillata, Delayed pub... ORPHA:324
Autosomal Recessive Cutis Laxa Type 1
Dermatochalasis, Peripheral pulmonary artery stenosis, Recurrent pneumonia, Joint subluxation, Em... ORPHA:90349
Nocardiosis
Pneumonia, Keratitis, Emphysema, Osteomyelitis, Pleural effusion, Chorioretinitis, Pneumothorax, ... ORPHA:31204
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Col... OMIM:610256
Proteus Syndrome
Pulmonary cyst, Chorioretinal coloboma, Cachexia, Pulmonary bulla, Hip dislocation, Cataract, Ret... ORPHA:744
Progeroid Short Stature With Pigmented Nevi
Cataract, Abnormal joint morphology, Allergic conjunctivitis, Thoracic scoliosis, Delayed puberty... OMIM:176690
Knobloch Syndrome 2
Vitreoretinopathy, Anterior cortical cataract, Vitreous floaters, Retinal detachment, Abnormal pu... OMIM:618458
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Proboscis Lateralis
Abnormal morphology of bony orbit of skull, Nasolacrimal duct obstruction, Microcornea, Cataract,... ORPHA:141099
Aspartylglucosaminuria
Platyspondyly, Cataract, Spondylolysis, Delayed skeletal maturation, Pathologic fracture, Spondyl... OMIM:208400
Ellis Van Creveld Syndrome
Neonatal short-limb short stature, Synostosis of carpal bones, Failure to thrive, Delayed skeleta... ORPHA:289
Peters Plus Syndrome
Optic atrophy, Short palpebral fissure, Rhizomelia, Disproportionate short-limb short stature, Ca... ORPHA:709
Cutis Laxa, Autosomal Recessive, Type Ic
Peripheral pulmonary artery stenosis, Recurrent pneumonia, Atelectasis, Emphysema, Pulmonary hypo... OMIM:613177
Sympathetic Ophthalmia
Cataract, Macular edema, Anterior chamber cells, Posterior synechiae of the anterior chamber, Cor... ORPHA:79098
Craniofacial Microsomia 1
Block vertebrae, Pulmonary hypoplasia, Genu valgum, Limbal dermoid, Upper eyelid coloboma, Ptosis... OMIM:164210
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Amyloidosis, Hereditary Systemic 1
Pulmonary edema, Ptosis, Amyloid deposition in the vitreous humor OMIM:105210
Ciliary Dyskinesia, Primary, 20
Recurrent pneumonia, Atelectasis, Recurrent sinusitis, Pulmonary artery stenosis, Recurrent respi... OMIM:615067
Peters-Plus Syndrome
Cataract, Rhizomelia, Disproportionate short-limb short stature, Peters anomaly, Retinal coloboma... OMIM:261540
Viss Syndrome
Pulmonary artery aneurysm, Hip dislocation, Failure to thrive, Emphysema, Recurrent joint disloca... OMIM:619472
Ehlers-Danlos Syndrome, Vascular Type
Foot acroosteolysis, Diffuse alveolar hemorrhage, Spontaneous pneumothorax, Hypermobility of inte... OMIM:130050
Retinoblastoma
Vitreous hemorrhage, Retinal calcification, Retinoblastoma, Vitritis OMIM:180200
Keutel Syndrome
Emphysema, Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Recurrent bronchitis OMIM:245150
Pagod Syndrome
Pulmonary artery hypoplasia, Abnormal aortic morphology, Abnormality of the pulmonary artery, Pul... ORPHA:991
Sarcoidosis
Dacryocystitis, Cataract, Enlarged lacrimal glands, Chylothorax, Emphysema, Abnormal pleura morph... ORPHA:797
Cryptococcosis
Pneumonia, Abnormal optic nerve morphology, Osteomyelitis, Nodular pattern on pulmonary HRCT, Ple... ORPHA:1546
Noonan Syndrome With Multiple Lentigines
Abnormality of the pulmonary artery ORPHA:500
Holt-Oram Syndrome
Elbow dislocation, Limited elbow extension, Thoracic scoliosis, Cervical C2/C3 vertebral fusion, ... OMIM:142900
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary artery aneurysm, Pulmonary artery dilatation, Aortic root aneurysm, Emphysema, Ascendin... OMIM:614437
Sotos Syndrome
Abnormal vertebral morphology, Small cell lung carcinoma, Ankle flexion contracture, Cataract, Do... ORPHA:821
Cancer-Associated Retinopathy
Small cell lung carcinoma, Optic atrophy, Foveal hyporeflective spaces on macular OCT, Retinal at... ORPHA:71505
Atypical Werner Syndrome
Failure to thrive, Abnormality of the pulmonary artery, Coronary artery atherosclerosis, Decrease... ORPHA:79474
Matthew-Wood Syndrome
Abnormal lung morphology, Failure to thrive, Pulmonary hypoplasia ORPHA:2470
Microphthalmia, Syndromic 12
Pulmonary hypoplasia OMIM:615524
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Pulmonary artery sling, Coarctation of aorta, Failure to thrive, Abnormality of the pulmonary artery ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Pulmonary artery sling, Coarctation of aorta, Failure to thrive, Abnormality of the pulmonary artery ORPHA:261552

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 Rarb

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 Rarb.

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

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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
Rarbem1(IMPC)Kmpc Exon Deletion Mice
Rarbtm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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