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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:
RAR beta 2,  Hap,  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
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
22q11 duplication syndrome
Telecanthus DECIPHER:32
Oculomotor-Levator Synkinesis
Ptosis, Eyelid retraction, Abnormal eyelid morphology OMIM:151610
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Retinal dystrophy, Posterior lenticonus, Chorioretinal c... 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, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... OMIM:165550
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion, Chorioretin... OMIM:613702
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Exudative Vitreoretinopathy 3
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
X-Linked Intellectual Disability, Stocco Dos Santos Type
Recurrent respiratory infections, Epicanthus, Cataract, Small for gestational age, Short stature,... ORPHA:85288
Kniest Dysplasia
Arthropathy, Rhegmatogenous retinal detachment, Enlarged joints, Short neck, Delayed epiphyseal o... ORPHA:485
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Recurrent respiratory infections, Severe short stature, Block verteb... OMIM:277300
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph... OMIM:143200
Wildervanck Syndrome
Fused cervical vertebrae, Pseudopapilledema OMIM:314600
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Small fo... ORPHA:70589
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Short stature, Spinal instability OMIM:251250
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Congenital ptosis, Posterior fusion of lumbosacral vertebrae OMIM:192800
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c... OMIM:120200
Wildervanck Syndrome
Fused cervical vertebrae, Pseudopapilledema, Lens subluxation, Short neck ORPHA:3456
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... ORPHA:2064
Pigmented Paravenous Chorioretinal Atrophy
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy OMIM:172870
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Short stature, Abnormal sacrum morphology, Fused cervical vertebrae, Scoliosis, Thoracic hemivert... ORPHA:1436
Lamb-Shaffer Syndrome
Epicanthus, Mild postnatal growth retardation, Optic atrophy, Fused cervical vertebrae, Thoracic ... ORPHA:530983
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Wheezin... ORPHA:79127
Idiopathic Bronchiectasis
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Cachexia, Abnormal re... ORPHA:60033
Atelis Syndrome 2
Sacral dimple, Epicanthus, Remnants of the hyaloid vascular system, Kyphosis, Developmental catar... OMIM:620185
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Antecubital pterygi... OMIM:618469
Achondrogenesis Type 2
Delayed vertebral ossification, Absent vertebral body mineralization, Retinal detachment, Catarac... ORPHA:93296
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Prominent metopic ridge, Short stature, Fused cervical vertebrae, Scoliosis, Thoracic hemivertebrae OMIM:309620
Exudative Vitreoretinopathy 5
Retinal exudate, Exudative vitreoretinopathy, Falciform retinal fold, Tractional retinal detachment OMIM:613310
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... ORPHA:91495
Maternal Uniparental Disomy Of Chromosome 9
Kyphoscoliosis, Short neck, Hamstring contractures, Retinal dysplasia, Patellar dislocation, Oste... ORPHA:96183
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Orbital Margin, Hypoplasia Of
Lacrimal duct atresia, Lower eyelid coloboma, Congenital extraocular muscle anomaly OMIM:165600
Chromosome 8Q22.1 Duplication Syndrome
Enlarged interphalangeal joints, Short stature, Genu recurvatum, Interphalangeal joint contractur... OMIM:151200
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Short stature, Thoracolumbar scoliosis, Short neck, Flexion contracture, Cervical C2/C3 vertebral... OMIM:616549
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... ORPHA:179
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Short stature, Growth delay, Camptodactyly, Blepharophimosis, Cervical C2/C3 vertebral fusion, In... OMIM:617333
Stickler Syndrome, Type I, Nonsyndromic Ocular
Optically empty vitreous, Rhegmatogenous retinal detachment OMIM:609508
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Scoliosis, Short neck OMIM:214300
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots OMIM:193230
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Gorlin Syndrome
Vertebral fusion, Epicanthus, Telecanthus, Cataract, Hemivertebrae, Vertebral wedging, Scoliosis,... ORPHA:377
Neuroocular Syndrome
Hyperextensibility of the finger joints, Genu recurvatum, Synophrys, Lens coloboma, Microcornea, ... OMIM:619539
Autosomal Recessive Stickler Syndrome
Retinal detachment, Cataract, Short stature, Genu valgum, Irregular vertebral endplates, Platyspo... ORPHA:250984
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Short stature, Hyperlordosis, Short neck, Kyphosis, Fused cervical vertebrae, Ptosis ORPHA:2522
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Short stature, Leukocoria,... ORPHA:2714
Verheij Syndrome
Joint laxity, Vertebral fusion, Small for gestational age, Optic nerve hypoplasia, Short stature,... OMIM:615583
2Q24 Microdeletion Syndrome
Cataract, Small for gestational age, Camptodactyly of finger, Short neck, Abnormality iris morpho... ORPHA:1617
Allergic Bronchopulmonary Aspergillosis
Asthma, Bronchiectasis, Respiratory insufficiency, Weight loss, Cough, Pulmonary arterial hyperte... ORPHA:1164
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Leukocoria, Retinal nonattach... OMIM:221900
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Decreased nasal nitric oxide, Br... OMIM:615294
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Vertebral fusion, Epicanthus, Abnormal cervical curvature, Multiple pterygia, ... OMIM:312150
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Overweight, Cervical C2/C3 vertebral fusion, Short stature, Short palpebral fissure ORPHA:370010
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Knee flexion contracture, Verteb... OMIM:178110
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Keratoconus Posticus Circumscriptus
Keratoconus, Limited elbow extension and supination, Short neck, Growth delay, Central posterior ... OMIM:244600
Isolated Klippel-Feil Syndrome
Short neck, Abnormal sacrum morphology, Abnormality of the vertebral column, Scoliosis, Cervical ... ORPHA:2345
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Vertebral fusion, Epicanthus, Abnormal cervical curvature, Multiple pterygia, ... OMIM:253290
Stickler Syndrome Type 1
Retinal detachment, Cataract, Osteoarthritis, Abnormal vitreous humor morphology, Joint hyperflex... ORPHA:90653
Norrie Disease
Retinal detachment, Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Remnants o... ORPHA:649
Recurrent Respiratory Papillomatosis
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... ORPHA:60032
Multiple Epiphyseal Dysplasia, Beighton Type
Low back pain, Thoracic scoliosis, Abnormal acetabulum morphology, Retinal thinning, Short statur... ORPHA:166011
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... OMIM:600059
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic disc pallor, Thoracic scoliosis, Cataract, Short stature, Macular atrophy, Optic atrophy, M... OMIM:616171
Kbg Syndrome
Vertebral fusion, Telecanthus, Persistent open anterior fontanelle, Short stature, Short neck, Sy... ORPHA:2332
Microphthalmia, Syndromic 2
Retinal detachment, Remnants of the hyaloid vascular system, Short stature, Flexion contracture, ... OMIM:300166
Brachydactyly, Type B1
Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Wide anterior fontanel, Hemiverteb... OMIM:113000
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Severe short stature, Short neck, Hemivertebrae, Disproportionat... OMIM:122600
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Short neck, Flexion contracture, Knee flexion contracture, Intercrur... OMIM:265000
Developmental And Speech Delay Due To Sox5 Deficiency
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Optic atrophy, Scoliosis, Butter... ORPHA:313892
Leg, Absence Deformity Of, With Congenital Cataract
Progressive cataract, Optic nerve dysplasia, Scoliosis, Developmental cataract OMIM:246000
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Cataract, Small for gestational age, Short stature, Kyphosis, Reduced bone mineral density, Delay... OMIM:618392
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re... OMIM:614643
Exudative Vitreoretinopathy 4
Peripheral retinal avascularization, Posterior vitreous detachment, Exudative vitreoretinopathy, ... OMIM:601813
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Dyspnea, Wheezing, Chronic pulmonary obstruction, Panacinar emphysema, Bronch... OMIM:613490
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Stickler Syndrome Type 2
Retinal detachment, Retinopathy, Abnormal vitreous humor morphology ORPHA:90654
Birdshot Chorioretinopathy
Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitritis, Vitreous floaters OMIM:605808
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg... OMIM:614292
Axial Spondylometaphyseal Dysplasia
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Cataract, Retinal dystrophy,... ORPHA:168549
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Thoracic scoliosis, Short neck, Bilateral ptosis, Facet joint arthrosis, Osteoarthrit... OMIM:618000
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent lower respir... OMIM:616726
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Cataract, Sparse eyelashes, Sparse eyebrow, Growth delay, Pulmonary fibrosis, Scoliosis, Delayed ... OMIM:615704
Kahrizi Syndrome
Cataract, Short stature, Elbow contracture, Knee flexion contracture, Thoracic kyphosis, Iris col... OMIM:612713
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Multiple Synostoses Syndrome 2
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... OMIM:610017
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
Cataract, Short stature, Kyphoscoliosis, Hypermobility of interphalangeal joints, Atlantoaxial ab... ORPHA:3433
Shashi-Pena Syndrome
Epicanthus, Highly arched eyebrow, Accelerated skeletal maturation, Kyphosis, Synophrys, Osteopor... OMIM:617190
Fanconi Anemia, Complementation Group I
Short stature, Optic nerve hypoplasia, Short neck, Fused cervical vertebrae, Astigmatism, Decreas... OMIM:609053
Chops Syndrome
Cataract, Short stature, Synophrys, Optic atrophy, Obesity, Anomalous pulmonary venous return, Lo... OMIM:616368
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Sacral dimple, Vertebral segmentation defect OMIM:618845
Pierson Syndrome
Retinal detachment, Rieger anomaly, Cataract, Remnants of the hyaloid vascular system, Hypoplasia... OMIM:609049
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Cataract, Kyphosis, Joint hyperflexibility, Cubitus valgus, Ptosis ORPHA:1875
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Dyspnea, Atelectasis, Tachypnea, Pulmonary e... OMIM:267450
Cofs Syndrome
Abnormality of retinal pigmentation, Prominent metopic ridge, Cataract, Short stature, Camptodact... ORPHA:1466
Acromelic Frontonasal Dysostosis
Telecanthus, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Patellar hypoplasia... OMIM:603671
Sifrim-Hitz-Weiss Syndrome
Epicanthus, Short stature, Flat acetabular roof, Upslanted palpebral fissure, Fused cervical vert... OMIM:617159
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... OMIM:193235
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Epicanthus, Short stature, Elbow dislocation, Kyphosis, Hemivertebrae, Abnormal... ORPHA:2916
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Severe short stature, Camptodactyly of finger, Cataract,... ORPHA:2635
Aarskog-Scott Syndrome
Epicanthus, Short stature, Genu recurvatum, Camptodactyly of finger, Short neck, Joint hyperflexi... ORPHA:915
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Retinal detachment, Epicanthus, Increased bone mineral density, Cataract, Ovoid vertebral bodies,... ORPHA:163649
Intellectual Developmental Disorder, Autosomal Dominant 52
Lumbar hyperlordosis, Small for gestational age, Overweight, Synophrys, Astigmatism, Lumbar scoli... OMIM:617796
Retinitis Pigmentosa 83
Bone spicule pigmentation of the retina, Vitreous floaters, Asteroid hyalosis, Rod-cone dystrophy... OMIM:618173
Spondylo-Ocular Syndrome
Retinal detachment, Abnormal eyebrow morphology, Abnormal intervertebral disk morphology, Short s... ORPHA:85194
Asbestos Intoxication
Reduced vital capacity, Lung adenocarcinoma, Reduced forced vital capacity, Nonproductive cough, ... ORPHA:2302
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Osteomyelitis, Failure to thrive in infancy, Osteolysis, Fused cervical vertebrae, Jo... OMIM:612852
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Severe short stature, Postnatal growth retardation, Platyspondyly, Scoliosis, Genu varum OMIM:618728
Frontometaphyseal Dysplasia 1
Dislocated radial head, Limited elbow movement, Interphalangeal joint contracture of finger, Ankl... OMIM:305620
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Retinal detachment, Cataract, Ovoid vertebral bodies, Abnormality of the vertebral endplates, Dis... ORPHA:1856
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Irregularity of vertebral bodies, Cataract, Short stature, Hypoplasia of the odontoid process, Pl... ORPHA:85172
Diaphanospondylodysostosis
Abnormal vertebral segmentation and fusion, Absent or minimally ossified vertebral bodies, Short ... ORPHA:66637
Irvan Syndrome
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... ORPHA:209943
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Chronic sinusitis, Recurrent bronchitis OMIM:300455
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Cataract, Short stature, Spinal rigidity, Hyperlordosis, Kyphosis, Scoliosis OMIM:617404
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Os odontoideum, Optic disc pallor, Cataract, Short stature, Macular coloboma, Macular atrophy, Ge... OMIM:619260
Fibrodysplasia Ossificans Progressiva
Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ectopic ossificatio... OMIM:135100
Neurodevelopmental Disorder With Spastic Diplegia And Visual Defects
Small for gestational age, Optic atrophy, Growth delay, Exudative vitreoretinopathy, Scoliosis OMIM:615075
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Elbow dislocation, Limitation of joint mobility, Abnormal vertebr... ORPHA:90650
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Thoracic kyphoscoliosis, Cataract, Short stature, Hip dislocation, Spinal canal stenosis, Genu va... ORPHA:436174
Full Nf2-Related Schwannomatosis
Remnants of the hyaloid vascular system, Retinal hamartoma, Epiretinal membrane, Posterior subcap... ORPHA:637
Duane-Radial Ray Syndrome
Epicanthus, Cataract, Optic disc hypoplasia, Fused cervical vertebrae, Shoulder dislocation, Reti... OMIM:607323
Acro-Renal-Ocular Syndrome
Vertebral fusion, Epicanthus, Cataract, Optic disc hypoplasia, Postnatal growth retardation, Opti... ORPHA:959
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, S... OMIM:616108
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis OMIM:606612
Stapes Ankylosis With Broad Thumbs And Toes
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger OMIM:184460
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Thoracic hemivertebrae, Short stature, Scoliosis ORPHA:1445
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Scoliosis, Short neck OMIM:118100
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Epicanthus, Cataract, Delayed skeletal maturation, Chorioretinal coloboma, Intrauterine growth re... ORPHA:2489
Flynn-Aird Syndrome
Increased bone mineral density, Cataract, Kyphoscoliosis, Joint stiffness, Osteoporosis, Increase... OMIM:136300
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cataract, Short stature, Camptodactyly of finger, Kyphosis, Osteoporosis, Microcornea, Long eyela... ORPHA:48431
Stickler Syndrome, Type I
Arthropathy, Retinal detachment, Cataract, Joint stiffness, Kyphosis, Osteoarthritis, Arthritis, ... OMIM:108300
Sarcoidosis, Susceptibility To, 2
Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, Hypoxemia, Res... OMIM:612387
Chromosome 16Q22 Deletion Syndrome
Epicanthus, Prominent metopic ridge, Small for gestational age, Wormian bones, Highly arched eyeb... OMIM:614541
Roifman Syndrome
Hip contracture, Biconvex vertebral bodies, Retinal dystrophy, Short stature, Postnatal growth re... OMIM:616651
Koolen-De Vries Syndrome
Vertebral fusion, Epicanthus, Cataract, Short stature, Kyphosis, Hip dislocation, Upslanted palpe... ORPHA:96169
Spondylocarpotarsal Synostosis Syndrome
Vertebral fusion, Abnormality of retinal pigmentation, Cataract, Block vertebrae, Tarsal synostos... OMIM:272460
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Unilateral ptosis, Thoracic scoliosis, Cervical hemivertebrae, Short stature, Optic nerve hypopla... ORPHA:508498
Combined Oxidative Phosphorylation Deficiency 47
Cataract, Short neck, Platyspondyly, Intrauterine growth retardation, Failure to thrive, Ptosis OMIM:618958
Wagr Syndrome
Cataract, Short stature, Obesity, Aplasia/Hypoplasia of the iris, Scoliosis, Ptosis ORPHA:893
Familial Nasal Acilia
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Rhizomelic Chondrodysplasia Punctata
Epicanthus, Cataract, Rhizomelia, Short stature, Limitation of joint mobility, Growth delay, Epip... ORPHA:177
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Reduced bone mineral density, Abnormal bone ossification, Abnormal vertebral morpholo... ORPHA:93315
Hypomelanosis Of Ito
Epicanthus, Cataract, Kyphosis, Scoliosis, Iris coloboma OMIM:300337
Koolen-De Vries Syndrome
Vertebral fusion, Sacral dimple, Ptosis, Small for gestational age, Epicanthus, Short stature, Pr... OMIM:610443
Idiopathic Chronic Eosinophilic Pneumonia
Crackles, Dyspnea, Nonproductive cough, Wheezing, Asthma, Atelectasis, Hypersensitivity pneumonit... ORPHA:2902
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short stature, Short nec... OMIM:613686
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Bull's eye maculopathy, Short neck, Large for gestationa... OMIM:213980
Frontometaphyseal Dysplasia
Limitation of movement at ankles, Interphalangeal joint contracture of finger, Limited elbow move... ORPHA:1826
X-Linked Dominant Chondrodysplasia Punctata
Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Cataract, Sparse eyelashes, Short ... ORPHA:35173
Absence Deformity Of Leg-Cataract Syndrome
Cataract, Scoliosis, Hyperlordosis ORPHA:2310
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Cataract, Short stature, Hyperlordosis, Kyphosis, Delayed sk... ORPHA:3085
Thakker-Donnai Syndrome
Short neck, Hemivertebrae, Upslanted palpebral fissure, Long palpebral fissure, Cervical C2/C3 ve... ORPHA:1780
Mosaic Trisomy 20
Vertebral fusion, Kyphosis, Spinal canal stenosis, Upslanted palpebral fissure, Fused cervical ve... ORPHA:1724
Microphthalmia, Syndromic 3
Vertebral fusion, Optic nerve aplasia, Cataract, Short stature, Optic nerve hypoplasia, Sclerocor... OMIM:206900
Roifman Syndrome
Hip contracture, Biconvex vertebral bodies, Retinal dystrophy, Short stature, Postnatal growth re... ORPHA:353298
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Abnormal intervertebral disk morphology, Cataract, Joint stiffness, Osteoarthritis, Platyspondyly... ORPHA:1345
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Scoliosis, Chorioretinal coloboma, Cyclopia, Iris coloboma OMIM:157170
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Scoliosis, M... ORPHA:171844
Brachytelephalangic Chondrodysplasia Punctata
Optic disc hypoplasia, Cervical kyphosis, Hypoplastic cervical vertebrae, Vertebral hypoplasia, C... ORPHA:79345
Bare Lymphocyte Syndrome, Type I
Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Recurrent bronchitis OMIM:604571
Duane Retraction Syndrome
Central heterochromia, Optic disc hypoplasia, Short neck, Blepharophimosis, Abnormal pupil morpho... ORPHA:233
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Retinal detachment, Joint laxity, Short stature, Corneal opacity, Osteoporosis, Abnor... ORPHA:2788
Apert Syndrome
Corneal erosion, Optic atrophy, Cervical C5/C6 vertebrae fusion, Vertebral segmentation defect, D... ORPHA:87
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Fused cervical vertebrae, Spina bifida occulta, Short stature, Butterfly vertebrae OMIM:619227
Oculofaciocardiodental Syndrome
Retinal detachment, Cataract, Highly arched eyebrow, Ectopia lentis, Flexion contracture of the 4... ORPHA:2712
Spondyloepiphyseal Dysplasia Congenita
Retinal detachment, Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short n... OMIM:183900
Lateral Meningocele Syndrome
Vertebral fusion, Telecanthus, Short stature, Short neck, Kyphosis, Sclerosis of skull base, Scol... OMIM:130720
Birt-Hogg-Dubé Syndrome
Emphysema, Pneumothorax, Pulmonary sequestration ORPHA:122
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Posterior e... ORPHA:1473
Pontocerebellar Hypoplasia, Type 16
Cataract, Optic atrophy, Scoliosis, Ptosis OMIM:619527
X-Linked Intellectual Disability, Najm Type
Cataract, Optic nerve hypoplasia, Optic atrophy, Scoliosis, Chorioretinal coloboma, Failure to th... ORPHA:163937
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... ORPHA:40923
Baralle-Macken Syndrome
Upslanted palpebral fissure, Kyphosis, Cataract, Obesity OMIM:619255
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis OMIM:607155
Larsen Syndrome
Joint laxity, Vertebral fusion, Short stature, Cervical kyphosis, Corneal opacity, Elbow dislocat... OMIM:150250
Rhizomelic Chondrodysplasia Punctata, Type 2
Osteopenia, Cataract, Rhizomelia, Optic nerve hypoplasia, Disproportionate short stature, Flexion... OMIM:222765
Distal Duplication 6P
Sacral dimple, Cataract, Short stature, Short neck, Abnormal eyelash morphology, Abnormal lung lo... ORPHA:1745
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Be... OMIM:614500
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Vitamin K Antagonist Embryofetopathy
Cataract, Short neck, Optic atrophy, Punctate vertebral calcifications, Epiphyseal stippling, Int... ORPHA:1914
Aicardi Syndrome
Retinal detachment, Cataract, Block vertebrae, Postnatal growth retardation, Chorioretinal lacuna... OMIM:304050
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Crackles, Nodular pattern on pulmonary HRCT, Nonprod... ORPHA:79126
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, Kyphosis, Limitation o... OMIM:313400
Linear Verrucous Nevus Syndrome
Cataract, Genu recurvatum, Reduced bone mineral density, Abnormal cornea morphology, Scoliosis, R... ORPHA:2611
Heart Defects-Limb Shortening Syndrome
Abnormality of the pulmonary artery ORPHA:1354
Schwartz-Jampel Syndrome, Type 1
Congenital hip dislocation, Cervical kyphosis, Short neck, Microcornea, Wrist flexion contracture... OMIM:255800
Three M Syndrome 1
Joint dislocation, Small for gestational age, Short stature, Joint hypermobility, Hyperlordosis, ... OMIM:273750
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy ORPHA:440727
Otopalatodigital Syndrome Type 2
Carpal synostosis, Increased bone mineral density, Cataract, Tarsal synostosis, Camptodactyly of ... ORPHA:90652
Stickler Syndrome, Type Ii
Arthropathy, Retinal detachment, Cataract, Abnormal vitreous humor morphology, Joint hypermobility OMIM:604841
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Cardiofaciocutaneous Syndrome 4
Joint laxity, Absent eyebrow, Epicanthus, Telecanthus, Sparse eyelashes, Optic nerve hypoplasia, ... OMIM:615280
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... OMIM:251270
Alpha-1-Antitrypsin Deficiency
Emphysema ORPHA:60
Codas Syndrome
Epicanthus, Congenital hip dislocation, Short stature, Cataract, Delayed skeletal maturation, Abn... ORPHA:1458
Oculoauricular Syndrome
Cone/cone-rod dystrophy, Retinal detachment, Posterior embryotoxon, Cataract, Morning glory anoma... OMIM:612109
Kbg Syndrome
Vertebral fusion, Telecanthus, Short stature, Short neck, Synophrys, Delayed skeletal maturation,... OMIM:148050
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... OMIM:610978
Arthrogryposis, Distal, Type 2A
Joint dislocation, Short neck, Knee flexion contracture, Spina bifida occulta, Wrist flexion cont... OMIM:193700
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Medial flaring of the eyebrow, Retinal detachment, Cataract, Short stature, Optic atrophy, Upslan... OMIM:619833
Otospondylomegaepiphyseal Dysplasia
Retinal detachment, Abnormally ossified vertebrae, Lumbar hyperlordosis, Enlarged joints, Catarac... ORPHA:1427
Exudative Vitreoretinopathy 6
Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli... OMIM:616468
3Mc Syndrome
Ptosis, Telecanthus, Highly arched eyebrow, Hyperlordosis, Postnatal growth retardation, Craniosy... ORPHA:293843
Infant Acute Respiratory Distress Syndrome
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira... ORPHA:70587
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Short stature, Elbow dislocation, Anterior vertebral fusion, Shoulder dislocation, Radioulnar syn... OMIM:171480
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the patella, Hip dislocation, Fused cervical vertebrae, Patellar dislocatio... ORPHA:3320
Alpha-Mannosidosis
Recurrent respiratory infections, Cataract, Corneal opacity, Short neck, Kyphosis, Delayed skelet... ORPHA:61
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Cone/cone-rod dystrophy, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Postnatal growth re... OMIM:608940
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Epicanthus, Postnatal growth retardation, Contracture of the distal interphalangeal joint of the ... ORPHA:83617
Kniest Dysplasia
Retinal detachment, Hip contracture, Enlarged joints, Rhizomelia, Cataract, Short neck, Delayed e... OMIM:156550
Caudal Regression Syndrome
Joint stiffness, Aplasia/Hypoplasia of the sacrum, Hypoplastic vertebral bodies, Pulmonary hypopl... ORPHA:3027
Nevus Comedonicus Syndrome
Spina bifida occulta, Abnormal vertebral morphology, Scoliosis, Cataract ORPHA:64754
Posterior Column Ataxia With Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Flexion contracture of finger, Cataract, Optic atrophy, ... OMIM:609033
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Cataract, Pigmentary retinopathy, Rod-c... OMIM:613731
Meconium Aspiration Syndrome
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Atelectasis, Hypoxemia, Aspirati... ORPHA:70588
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Joint contracture, Cataract, Optic atrophy, Scoliosis OMIM:617481
Congenital Tracheomalacia
Apnea, Decreased peak expiratory flow, Cough, Emphysema, Neonatal respiratory distress, Intercost... ORPHA:95430
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema OMIM:618307
Hypophosphatasia
Emphysema, Failure to thrive in infancy, Respiratory insufficiency ORPHA:436
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Iris atrophy, Cataract, Short stature, Recurrent fractures, Kyphoscoliosis, Kyphosis,... OMIM:259770
Cardiospondylocarpofacial Syndrome
Joint laxity, Epicanthus, Telecanthus, Short stature, Tarsal synostosis, Delayed skeletal maturat... OMIM:157800
Srd5A3-Cdg
Cataract, Optic disc hypoplasia, Kyphosis, Abnormal sacrum morphology, Optic atrophy, Coloboma, R... ORPHA:324737
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Neonatal respiratory distress, Apnea, Asthma, Tachypnea, Pneumo... ORPHA:2257
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Corneal opacity, Optic nerve hypoplasia, Optic atrophy, Upslanted palpebral fissure, Sc... ORPHA:496790
Basal Cell Nevus Syndrome 1
Vertebral fusion, Cataract, Kyphoscoliosis, Hemivertebrae, Orbital cyst, Vertebral wedging, Irreg... OMIM:109400
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... OMIM:611040
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormality of the pulmonary artery, Respiratory insufficiency, Abnormal aortic morphology ORPHA:1166
Stickler Syndrome, Type V
Retinal detachment, Vitreoretinopathy OMIM:614284
Coats Disease
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... ORPHA:190
Ritscher-Schinzel Syndrome 3
Highly arched eyebrow, Postnatal growth retardation, Wide anterior fontanel, Poorly ossified vert... OMIM:619135
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Wormian bones, Short stature, Cataract, Highly arched eyebrow, Synophrys, Obesity, Long eyelashes... ORPHA:444077
Atelosteogenesis, Type I
Rhizomelia, Short neck, Thoracic platyspondyly, Elbow dislocation, Fused cervical vertebrae, Coro... OMIM:108720
Arnold-Chiari Malformation Type I
Stiff neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Anteriorly plac... ORPHA:268882
Neonatal Adrenoleukodystrophy
Abnormality of retinal pigmentation, Cataract, Short stature, Wide anterior fontanel, Optic atrop... ORPHA:44
Flynn-Aird Syndrome
Cataract, Cachexia, Joint stiffness, Kyphosis, Scoliosis, Rod-cone dystrophy ORPHA:2047
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr... OMIM:180104
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Epicanthus, Cataract, Short stature, Short neck, Narrow palpebral fissure, Astigmatism, Retinal c... OMIM:618571
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Short neck, Hemivertebrae, Pulmonary hypoplasia, Scoliosis, Su... OMIM:271520
Sialidosis Type 1
Cataract, Short stature, Corneal opacity, Kyphosis, Delayed skeletal maturation, Abnormal form of... ORPHA:812
Cerebrooculofacioskeletal Syndrome 2
Cataract, Small for gestational age, Camptodactyly of finger, Kyphoscoliosis, Developmental catar... OMIM:610756
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema OMIM:210050
Alkaptonuria
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim... OMIM:203500
Megalocornea
Iridodonesis, Retinal detachment, Cataract, Deep anterior chamber, Mosaic corneal dystrophy, Iris... OMIM:309300
Chondrodysplasia Punctata 2, X-Linked Dominant
Cataract, Sparse eyelashes, Rhizomelia, Kyphoscoliosis, Short neck, Sparse eyebrow, Postnatal gro... OMIM:302960
Warburg Micro Syndrome 3
Cataract, Kyphoscoliosis, Postnatal growth retardation, Flexion contracture, Optic atrophy, Devel... OMIM:614222
Aicardi Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Block vertebrae, Optic disc coloboma, Op... ORPHA:50
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Retinal detachment, Epicanthus, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal... OMIM:152950
Marden-Walker Syndrome
Epicanthus, Short neck, Postnatal growth retardation, Kyphosis, Wide anterior fontanel, Congenita... OMIM:248700
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy... OMIM:618220
Trisomy 13
Cataract, Abnormal retinal vascular morphology, Kyphosis, Abnormal eyelash morphology, Optic atro... ORPHA:3378
Apert Syndrome
Limited elbow movement, Sagittal craniosynostosis, Craniosynostosis, Delayed epiphyseal ossificat... OMIM:101200
Stickler Syndrome
Joint dislocation, Osteoarthritis, Bone pain, Abnormal form of the vertebral bodies, Reduced bone... ORPHA:828
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Cataract, Retinal thinning, Short stature, Genu valgum, Asteroid hyalosis OMIM:132450
Aspergillosis
Osteomyelitis, Pneumonia, Keratitis, Hypersensitivity pneumonitis, Dacryocystitis, Vitritis, Bron... ORPHA:1163
Myhre Syndrome
Vertebral fusion, Cataract, Small for gestational age, Short stature, Short neck, Joint stiffness... OMIM:139210
9Q21.13 Microdeletion Syndrome
Craniosynostosis, Postnatal growth retardation, Vertebral segmentation defect, Scoliosis, Long pa... ORPHA:531151
Frontometaphyseal Dysplasia 2
Hip contracture, Congenital hip dislocation, Elbow contracture, Fused cervical vertebrae, Camptod... OMIM:617137
Joubert Syndrome 9
Cataract, Retinal dystrophy, Astigmatism, Scoliosis OMIM:612285
Mucopolysaccharidosis, Type Vii
Short neck, Accelerated skeletal maturation, Flexion contracture, Anterior beaking of lumbar vert... OMIM:253220
Dyssegmental Dysplasia, Silverman-Handmaker Type
Severe short stature, Cataract, Disproportionate short-limb short stature, Pulmonary hypoplasia, ... OMIM:224410
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... ORPHA:3109
Short Tarsus With Absence Of Lower Eyelashes
Absent lower eyelashes, Hypoplasia of the lower eyelids OMIM:600269
Pulmonary Hypertension, Primary, 1
Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial medial hypertrophy, Pulmonar... OMIM:178600
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome
Abnormality of the pulmonary artery ORPHA:1065
Chromosome 16P13.3 Duplication Syndrome
Sacral dimple, Epicanthus, Short neck, Synophrys, Tracheobronchomalacia, Hip dislocation, Cervica... OMIM:613458
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Septo-optic dysplasia, Cataract, Abnormal lung lobation, Optic atr... ORPHA:3301
Leber Congenital Amaurosis 8
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... OMIM:613835
Fanconi Renotubular Syndrome 5
Decreased DLCO, Emphysema, Pulmonary fibrosis, Lung adenocarcinoma OMIM:618913
Robinow Syndrome, Autosomal Recessive 1
Joint laxity, Vertebral fusion, Hypoplastic sacrum, Short stature, Thoracolumbar scoliosis, Short... OMIM:268310
Wolf-Hirschhorn Syndrome
Abnormal form of the vertebral bodies, Iris coloboma, Vertebral fusion, Short stature, Highly arc... OMIM:194190
Cataract 50 With Or Without Glaucoma
Retinal detachment, Cataract, Persistent pupillary membrane OMIM:620253
Jaberi-Elahi Syndrome
Cataract, Sparse eyelashes, Joint stiffness, Sparse eyebrow, Kyphosis, Optic atrophy, Scoliosis, ... OMIM:617988
Papillorenal Syndrome
Joint laxity, Retinal detachment, Cataract, Short stature, Morning glory anomaly, Lens luxation, ... OMIM:120330
De Barsy Syndrome
Osteopenia, Recurrent sinopulmonary infections, Epicanthus, Congenital hip dislocation, Short sta... ORPHA:2962
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Cataract, Flexion contracture, Coloboma, Scoliosis, Retinal degeneration OMIM:615249
Cenani-Lenz Syndrome
Ptosis, Cataract, Elbow dislocation, Hip dislocation, Abnormal form of the vertebral bodies, Radi... ORPHA:3258
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Crackles, Dyspnea, Asthma, Wheezing, Atelectasis, Bronchiectasis, Recurrent lower respiratory tra... OMIM:620233
Micro Syndrome
Abnormality of retinal pigmentation, Cataract, Short stature, Joint stiffness, Kyphosis, Optic at... ORPHA:2510
Microphthalmia, Lenz Type
Cataract, Short stature, Camptodactyly of finger, Hyperlordosis, Kyphosis, Optic disc coloboma, A... ORPHA:568
Maternal Uniparental Disomy Of Chromosome 2
Postnatal growth retardation, Respiratory infections in early life, Contractures of the large joi... ORPHA:96179
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Bone spicule pigmentation of the retina, Flexion contracture of finger, Osteomyelitis, Cataract, ... ORPHA:88628
Pseudopseudohypoparathyroidism
Cataract, Short stature, Short neck, Osteoporosis, Obesity OMIM:612463
Chondrodysplasia Punctata 1, X-Linked Recessive
Epiphyseal stippling, Abnormality of the vertebral column, Short stature, Cataract OMIM:302950
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis, Emphysema, Failure to... OMIM:242700
Thrombocytopenia-Absent Radius Syndrome
Ptosis, Cataract, Short stature, Corneal opacity, Patellar aplasia, Hip dislocation, Fused cervic... OMIM:274000
Waardenburg Syndrome Type 2
Abnormality of the pulmonary artery ORPHA:895
Severe Oculo-Renal-Cerebellar Syndrome
Abnormality of retinal pigmentation, Cataract, Short stature, Abnormal retinal vascular morpholog... ORPHA:2715
Nasopalpebral Lipoma-Coloboma Syndrome
Lipomas of eyelids, Telecanthus, Cataract, Corneal opacity, Abnormal eyelash morphology, Sparse e... ORPHA:2399
Enhanced S-Cone Syndrome
Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema OMIM:268100
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Osteopenia, Ptosis, Congenital hip dislocation, Short stature, Joint hypermobility, Cataract, Hyp... OMIM:616007
3Mc Syndrome 1
Conjunctival telangiectasia, Ptosis, Sacral dimple, Telecanthus, Highly arched eyebrow, Postnatal... OMIM:257920
Cole-Carpenter Syndrome 2
Osteopenia, Wide cranial sutures, Short stature, Recurrent fractures, Postnatal growth retardatio... OMIM:616294
3Mc Syndrome 2
Highly arched eyebrow, Blepharophimosis, Postnatal growth retardation, Limited elbow movement, Cr... OMIM:265050
Marshall Syndrome
Retinal detachment, Epicanthus, Cataract, Short stature, Lens luxation, Knee osteoarthritis, Plat... OMIM:154780
Elsahy-Waters Syndrome
Cataract, Synophrys, Increased cup-to-disc ratio, Cervical C2/C3 vertebral fusion, Megalocornea, ... OMIM:211380
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Cataract, Postna... OMIM:612394
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Cataract, Short stature, Microcornea, Coloboma, Iris transillumin... OMIM:617306
Saul-Wilson Syndrome
Cataract, Short stature, Postnatal growth retardation, Wide anterior fontanel, Hypoplasia of the ... OMIM:618150
Knobloch Syndrome 1
Retinal detachment, Optic disc pallor, Epicanthus, Telecanthus, Band keratopathy, Chorioretinal a... OMIM:267750
Ruijs-Aalfs Syndrome
Thoracic kyphoscoliosis, Cataract, Short stature, Delayed skeletal maturation, Posterior subcapsu... OMIM:616200
Marfan Syndrome
Osteopenia, Limited elbow movement, Hypoplasia of the iris, Emphysema, Slender build, Osteoporosi... ORPHA:558
Chromosome 8Q21.11 Deletion Syndrome
Epicanthus, Cataract, Sclerocornea, Short neck, Growth delay, Pigmentary retinopathy, Camptodacty... OMIM:614230
Marshall Syndrome
Retinal detachment, Cataract, Sparse eyelashes, Short stature, Ectopia lentis, Sparse eyebrow, Os... ORPHA:560
Peroxisome Biogenesis Disorder 2A (Zellweger)
Epicanthus, Cataract, Palpebral edema, Cubitus valgus, Brushfield spots, Optic nerve dysplasia, U... OMIM:214110
Faciodigitogenital Syndrome, Autosomal Recessive
Vertebral fusion, Proportionate short stature, Hyperextensible hand joints, Camptodactyly, Long p... OMIM:227330
Frontofacionasal Dysplasia
Telecanthus, Cataract, Short stature, Blepharophimosis, Brushfield spots, Upper eyelid coloboma, ... ORPHA:1791
Kapur-Toriello Syndrome
Cataract, Camptodactyly of finger, Short neck, Retinal coloboma, Scoliosis, Intrauterine growth r... OMIM:244300
Juvenile Sialidosis Type 2
Cataract, Corneal opacity, Optic atrophy, Abnormal form of the vertebral bodies, Cherry red spot ... ORPHA:93399
Loeys-Dietz Syndrome 4
Joint laxity, Flat cornea, Protrusio acetabuli, Pneumothorax, Joint hyperflexibility, Scoliosis, ... OMIM:614816
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Abnormal size of the palpebral fissures, Camptodactyly of finger, Corneal dystrophy, Abnormal vit... ORPHA:1101
Intermediate Uveitis
Macular scar, Vitreous haze, Epiretinal membrane, Vitreous floaters, Macular edema, Optic neuriti... ORPHA:279914
Phacoanaphylactic Uveitis
Hypopyon, Keratitis, Abnormal pupil morphology, Vitritis, Abnormal vitreous humor morphology, Ret... ORPHA:209959
3Q29 Microduplication Syndrome
Cataract, Craniosynostosis, Short neck, Sclerocornea, Camptodactyly of toe, Obesity, Aniridia, Do... ORPHA:251038
Acute Zonal Occult Outer Retinopathy
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... ORPHA:284454
Mevalonic Aciduria
Optic disc pallor, Cataract, Failure to thrive in infancy, Short stature, Kyphoscoliosis, Nuclear... OMIM:610377
Vogt-Koyanagi-Harada Disease
Retinal detachment, Abnormal eyebrow morphology, Cataract, Short stature, Abnormal eyelash morpho... ORPHA:3437
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Cataract, Obesity, Truncal obesity, Astigmatism, Rod-con... OMIM:615986
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Co... ORPHA:2334
Charcot-Marie-Tooth Disease Type 4B2
Cataract, Kyphoscoliosis, Developmental glaucoma, Optic atrophy, Buphthalmos, Scoliosis, Ptosis ORPHA:99956
Harrod Syndrome
Cataract, Kyphosis, Joint hyperflexibility, Scoliosis, Intrauterine growth retardation, Failure t... ORPHA:2115
Hallermann-Streiff Syndrome
Recurrent respiratory infections, Wormian bones, Small for gestational age, Sparse eyelashes, Pro... OMIM:234100
Meier-Gorlin Syndrome 1
Genu recurvatum, Flexion contracture, Hemivertebrae, Emphysema, Genu varum, Joint laxity, Absent ... OMIM:224690
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Rod-cone dystrophy, Retinal coloboma, Obesity, Cataract OMIM:601794
Proteus-Like Syndrome
Retinal detachment, Cataract, Genu recurvatum, Abnormal pupil morphology, Limbal dermoid, Broncho... ORPHA:2969
Werner Syndrome
Low back pain, Cataract, Short stature, Osteoporosis, Reduced bone mineral density, Retinal degen... OMIM:277700
Frontorhiny
Epicanthus, Lumbar hyperlordosis, Cataract, Camptodactyly of finger, Scoliosis, Iris coloboma, Pt... ORPHA:391474
Nail-Patella Syndrome
Back pain, Keratoconus, Lester's sign, Lumbar hyperlordosis, Short stature, Cataract, Patellar ap... OMIM:161200
Knobloch Syndrome
Retinal detachment, Epicanthus, Cataract, Ectopia lentis, Abnormal vitreous humor morphology, Mac... ORPHA:1571
Klippel-Trénaunay Syndrome
Abnormality of the pulmonary artery, Respiratory insufficiency, Pulmonary embolism ORPHA:90308
Developmental Malformations-Deafness-Dystonia Syndrome
Kyphosis, Cataract, Short stature, Scoliosis ORPHA:79107
Hajdu-Cheney Syndrome
Osteopenia, Short neck, Synophrys, Bone pain, Decreased skull ossification, Iris coloboma, Short ... ORPHA:955
Spondyloocular Syndrome
Osteopenia, Retinal detachment, Cataract, Short stature, Posterior subcapsular cataract, Platyspo... OMIM:605822
Schwartz-Jampel Syndrome
Short neck, Microcornea, Wrist flexion contracture, Abnormally ossified vertebrae, Increased bone... ORPHA:800
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Dystonia-Deafness Syndrome 1
Cataract, Small for gestational age, Kyphoscoliosis OMIM:607371
Idiopathic Panuveitis
Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, Vitreous sno... ORPHA:280921
Oligoarticular Juvenile Idiopathic Arthritis
Cataract, Band keratopathy, Knee osteoarthritis, Oligoarthritis, Severe postnatal growth retardat... ORPHA:85410
Lymphedema-Hypoparathyroidism Syndrome
Telecanthus, Cataract, Short stature, Pulmonary lymphangiectasia, Increased carrying angle, Ptosis OMIM:247410
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... OMIM:212550
Duodenal Atresia
Abnormality of the pulmonary artery ORPHA:1203
Aniridia 1
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... OMIM:106210
Osteogenesis Imperfecta
Osteopenia, Cervical kyphosis, Osteoarthritis, Flexion contracture, Bone pain, Abnormal form of t... ORPHA:666
Weill-Marchesani Syndrome 1
Lumbar hyperlordosis, Short stature, Cataract, Proportionate short stature, Joint stiffness, Ecto... OMIM:277600
Blomstrand Lethal Chondrodysplasia
Telecanthus, Increased bone mineral density, Rhizomelia, Cataract, Accelerated skeletal maturatio... ORPHA:50945
Hypocomplementemic Urticarial Vasculitis
Dyspnea, Restrictive ventilatory defect, Pleural effusion, Cough, Emphysema, Airway obstruction ORPHA:36412
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Cataract, Short stature, Kyphosis, Synophrys, Flexion contracture, Osteolysis, A... ORPHA:3042
Generalized Arterial Calcification Of Infancy
Abnormality of the knee, Choroidal neovascularization, Failure to thrive in infancy, Osteomalacia... ORPHA:51608
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Congenital hip dislocation, Short stature, Delayed closure of the anterior fontanelle, Subretinal... ORPHA:357074
Monosomy 9Q22.3
Epicanthus, Cataract, Large for gestational age, Short neck, Kyphosis, Accelerated skeletal matur... ORPHA:77301
Common Variable Immunodeficiency
Recurrent respiratory infections, Failure to thrive in infancy, Pneumonia, Bronchiectasis, Restri... ORPHA:1572
Codas Syndrome
Congenital hip dislocation, Short stature, Cataract, Hypoplasia of the odontoid process, Generali... OMIM:600373
Congenital Rubella Syndrome
Abnormality of the pulmonary artery ORPHA:290
Cog1-Cdg
Osteopenia, Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Short neck, Postnatal g... ORPHA:263508
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Emphysema, Pulmonary fibrosis OMIM:620365
1Q21.1 Microdeletion Syndrome
Epicanthus, Cataract, Short stature, Joint hyperflexibility, Scoliosis, Intrauterine growth retar... ORPHA:250989
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Retinal vein occlusion, Pigmen... OMIM:177650
Lathosterolosis
Abnormal thoracic spine morphology, Epicanthus, Prominent metopic ridge, Cataract, Microcornea, O... ORPHA:46059
Marfan Syndrome
Pulmonary artery dilatation, Retinal detachment, Cataract, Genu recurvatum, Protrusio acetabuli, ... OMIM:154700
Jacobsen Syndrome
Recurrent respiratory infections, Epicanthus, Ectropion, Short stature, Cataract, Short neck, Hip... ORPHA:2308
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... OMIM:615067
Sponastrime Dysplasia
Delayed epiphyseal ossification, Generalized joint laxity, Ivory epiphyses of the phalanges of th... ORPHA:93357
Microphthalmia With Linear Skin Defects Syndrome
Abnormality of retinal pigmentation, Sacral dimple, Severe short stature, Retinal dystrophy, Chor... ORPHA:2556
Classic Homocystinuria
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Recurrent fractures, Joint sti... ORPHA:394
Meier-Gorlin Syndrome 4
Emphysema, Failure to thrive OMIM:613804
Chondrodysplasia Punctata, Autosomal Dominant
Hip contracture, Cataract, Moderate postnatal growth retardation, Knee flexion contracture, Epiph... OMIM:118650
Simpson-Golabi-Behmel Syndrome
Vertebral fusion, Epicanthus, Congenital hip dislocation, Camptodactyly of finger, Short neck, Ac... ORPHA:373
Alagille Syndrome 1
Posterior embryotoxon, Cataract, Butterfly vertebral arch, Band keratopathy, Chorioretinal atroph... OMIM:118450
Morning Glory Disc Anomaly
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation, Cataract ORPHA:35737
Aymé-Gripp Syndrome
Prominent metopic ridge, Cataract, Short stature, Craniosynostosis, Postnatal growth retardation,... ORPHA:1272
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Papilledema, Optic disc pallor, Iris atrophy, Cataract, Reti... ORPHA:263479
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Short stature, Recurrent fr... OMIM:268315
Incontinentia Pigmenti
Hypoplasia of the fovea, Retinal detachment, Cataract, Short stature, Kyphoscoliosis, Retinal vas... OMIM:308300
Microphthalmia, Syndromic 5
Joint laxity, Cataract, Retinal dystrophy, Optic nerve hypoplasia, Short stature, Microcornea, Co... OMIM:610125
Lymphangioleiomyomatosis
Recurrent respiratory infections, Dyspnea, Atelectasis, Pneumothorax, Restrictive ventilatory def... ORPHA:538
Weill-Marchesani Syndrome 2
Iridodonesis, Lumbar hyperlordosis, Short stature, Cataract, Proportionate short stature, Joint s... OMIM:608328
Neu-Laxova Syndrome 2
Ablepharon, Cataract, Short neck, Scoliosis, Intrauterine growth retardation OMIM:616038
Aniridia 2
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... OMIM:225200
Autosomal Recessive Cutis Laxa Type 1
Joint laxity, Severe short stature, Cataract, Delayed cranial suture closure, Wide anterior fonta... ORPHA:90349
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... OMIM:310600
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Epicanthus, Retinal dystrophy, Chorioret... ORPHA:2526
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Epicanthus, Cataract, Rhizomelia, Sclerocornea, Microcornea, Coloboma, Ectopia pupillae, Long eye... OMIM:615877
Autosomal Dominant Cutis Laxa
Osteopenia, Joint laxity, Wormian bones, Genu recurvatum, Delayed cranial suture closure, Corneal... ORPHA:90348
Rothmund-Thomson Syndrome, Type 2
Absent eyebrow, Epicanthus, Congenital hip dislocation, Small for gestational age, Sparse eyelash... OMIM:268400
Aniridia-Absent Patella Syndrome
Aniridia, Cataract, Aplasia/Hypoplasia of the patella, Ptosis ORPHA:1069
Mend Syndrome
Sacral dimple, Cataract, Short stature, Kyphosis, Upslanted palpebral fissure, Narrow palpebral f... OMIM:300960
Monosomy 13Q14
Epicanthus, Cataract, Short stature, Short neck, Retinoblastoma, Intrauterine growth retardation,... ORPHA:1587
Antiphospholipid Syndrome, Familial
Retinal vasculitis, Retinal detachment, Vitritis, Central retinal artery occlusion OMIM:107320
Cutis Laxa, Autosomal Recessive, Type Iid
Entropion, Cataract, Kyphoscoliosis, Pneumothorax, Hip dislocation, Camptodactyly, Blepharophimos... OMIM:617403
Diabetic Embryopathy
Abnormality of the pulmonary artery, Abnormal aortic morphology ORPHA:1926
Robinow Syndrome
Fused thoracic vertebrae, Small for gestational age, Short stature, Kyphoscoliosis, Hemivertebrae... ORPHA:97360
Mend Syndrome
Sacral dimple, Telecanthus, Short stature, Cataract, Kyphosis, Wide anterior fontanel, Upslanted ... ORPHA:401973
Sarcoidosis, Susceptibility To, 1
Dyspnea, Bronchiectasis, Abnormal pulmonary interstitial morphology, Weight loss, Hypoxemia, Rest... OMIM:181000
Heterotaxy, Visceral, 1, X-Linked
Bilateral trilobed lung, Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Tota... OMIM:306955
Cutis Laxa, Autosomal Dominant 1
Dyspnea, Emphysema, Bronchiectasis, Peripheral pulmonary artery stenosis OMIM:123700
Cutis Laxa, Autosomal Recessive, Type Ia
Recurrent respiratory infections, Emphysema, Ascending tubular aorta aneurysm OMIM:219100
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri... OMIM:610256
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Epicanthus, Cataract, Large for gestational age, Astigmatism, Retinal coloboma, Camptodactyly, Lo... ORPHA:500095
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic root aneurysm, Aortic atherosclerotic lesion, Emphysema, Abnormality of the pulmonary arte... ORPHA:363618
Frontofacionasal Dysplasia
Telecanthus, Cataract, Ankyloblepharon, Microcornea, Eyelid coloboma, S-shaped palpebral fissures... OMIM:229400
Dextrocardia
Abnormality of the pulmonary artery, Abnormal lung lobation, Abnormal pulmonary situs morphology ORPHA:1666
Neurofibromatosis Type 1
Abnormality of retinal pigmentation, Cataract, Short stature, Recurrent fractures, Corneal opacit... ORPHA:636
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
X-Linked Mandibulofacial Dysostosis
Abnormality of the pulmonary artery ORPHA:1131
Knobloch Syndrome 2
Retinal detachment, Recurrent respiratory infections, Anterior cortical cataract, Vitreous floate... OMIM:618458
Wrinkly Skin Syndrome
Osteopenia, Recurrent sinopulmonary infections, Epicanthus, Congenital hip dislocation, Short sta... ORPHA:2834
Progeroid Short Stature With Pigmented Nevi
Thoracic scoliosis, Cataract, Small for gestational age, Short stature, Allergic conjunctivitis, ... OMIM:176690
Nocardiosis
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, We... ORPHA:31204
Proboscis Lateralis
Abnormal eyebrow morphology, Epicanthus, Cataract, Abnormal nasolacrimal system morphology, Optic... ORPHA:141099
Aspartylglucosaminuria
Joint laxity, Recurrent respiratory infections, Cataract, Short stature, Kyphosis, Delayed skelet... OMIM:208400
Meier-Gorlin Syndrome 6
Recurrent respiratory infections, Entropion, Small for gestational age, Severe short stature, Del... OMIM:616835
Sympathetic Ophthalmia
Retinal detachment, Papilledema, Cataract, Vitreous floaters, Vitritis, Retinal hemorrhage, Macul... ORPHA:79098
Peters Plus Syndrome
Sacral dimple, Anterior chamber synechiae, Short stature, Rhizomelia, Corneal opacity, Short neck... ORPHA:709
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Joint laxity, Small for gestational age, Short stature, Delayed skeletal maturation, ... OMIM:613658
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal posterior eye segment morphology, Abnormal corneal epithelium mo... ORPHA:67043
Craniofacial Microsomia 1
Ptosis, Block vertebrae, Blepharophimosis, Hemivertebrae, Upper eyelid coloboma, Genu valgum, Pul... OMIM:164210
Peters-Plus Syndrome
Joint laxity, Cataract, Rhizomelia, Limited elbow movement, Short neck, Postnatal growth retardat... OMIM:261540
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Epicanthus, Lumbar hyperlordosis, Unilateral lung agenesis, Optic nerve hypoplasia, Kyphoscoliosi... ORPHA:500150
Amyloidosis, Hereditary, Transthyretin-Related
Ptosis, Amyloid deposition in the vitreous humor, Pulmonary edema OMIM:105210
Neonatal Marfan Syndrome
Neonatal respiratory distress, Small for gestational age, Hypoxemia, Ascending tubular aorta aneu... ORPHA:284979
Retinoblastoma
Retinal calcification, Vitreous hemorrhage, Vitritis, Retinoblastoma OMIM:180200
Keutel Syndrome
Peripheral pulmonary artery stenosis, Sinusitis, Pulmonary artery hypoplasia, Emphysema, Chronic ... OMIM:245150
Cryptococcosis
Osteomyelitis, Pneumonia, Abnormal retinal morphology, Nodular pattern on pulmonary HRCT, Vitriti... ORPHA:1546
Pagod Syndrome
Pulmonary artery hypoplasia, Abnormality of the pulmonary artery, Pulmonary hypoplasia, Abnormal ... ORPHA:991
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary artery dilatation, Emphysema, Pulmonary artery aneurysm, Aortic root aneurysm OMIM:614437
Viss Syndrome
Joint laxity, Retinal detachment, Recurrent joint dislocation, Ectropion, Short stature, Joint hy... OMIM:619472
Noonan Syndrome With Multiple Lentigines
Abnormality of the pulmonary artery ORPHA:500
Ehlers-Danlos Syndrome, Vascular Type
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... OMIM:130050
Cancer-Associated Retinopathy
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Foveal hyporeflective spa... ORPHA:71505
Atypical Werner Syndrome
Decreased body weight, Failure to thrive, Peripheral arterial stenosis, Neoplasm of the lung, Pre... ORPHA:79474
Matthew-Wood Syndrome
Abnormal lung morphology, Failure to thrive, Pulmonary hypoplasia ORPHA:2470
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Failure to thrive, Abnormality of the pulmonary artery, Pulmonary artery sling, Coarctation of aorta ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Failure to thrive, Abnormality of the pulmonary artery, Pulmonary artery sling, Coarctation of aorta ORPHA:261552
Microphthalmia, Syndromic 12
Pulmonary hypoplasia OMIM:615524

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.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
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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