Gene: Fmod MGI:1328364

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

fibromodulin

Synonyms:

SLRR2E

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 Fmod 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.

Human diseases associated with Fmod (0 diseases)
Human diseases predicted to be associated with Fmod (715 diseases)

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

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

Disease	Matching phenotypes	Source
Arthrogryposis With Hyperkeratosis	Arthrogryposis multiplex congenita	OMIM:208158
Osteoarthritis Susceptibility 3	Joint stiffness, Osteoarthritis of the first carpometacarpal joint, Osteoarthritis, Osteoarthriti...	OMIM:607850
Chondrocalcinosis 2	Arthropathy, Osteoarthritis, Polyarticular chondrocalcinosis	OMIM:118600
Carpal Tunnel Syndrome	Digital flexor tenosynovitis	OMIM:115430
Kienbock Disease	Osteochondritis dissecans, Abnormality of the wrist, Osteoarthritis, Limitation of joint mobility	ORPHA:97332
Brachydactylous Dwarfism, Mseleni Type	Osteoarthritis of the elbow, Knee osteoarthritis, Joint subluxation, Stiff shoulders, Abnormality...	ORPHA:2619
Angel-Shaped Phalangoepiphyseal Dysplasia	Delayed ossification of carpal bones, Hip osteoarthritis, Premature osteoarthritis, Hyperextensib...	OMIM:105835
Familial Calcium Pyrophosphate Deposition	Chondrocalcinosis, Joint swelling, Osteoarthritis, Arthritis, Joint dislocation, Calcification of...	ORPHA:1416
Chondrocalcinosis 1	Chondrocalcinosis, Osteoarthritis	OMIM:600668
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts	Wormian bones, Multiple prenatal fractures, Bowing of limbs due to multiple fractures, Decreased ...	OMIM:259410
Osteoarthritis Susceptibility 2	Osteoarthritis, Heberden's node	OMIM:140600
Brittle Cornea Syndrome 2	Corneal perforation, Megalocornea, Keratoglobus, Decreased corneal thickness, Keratoconus, Sclero...	OMIM:614170
Developmental Dysplasia Of The Hip 2	Hip osteoarthritis, Arthritis	OMIM:615612
Laron Syndrome	Abnormal joint morphology, Blue sclerae	OMIM:262500
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome	Blue sclerae, Skeletal muscle atrophy, Hip dislocation, Limitation of joint mobility	ORPHA:2840
Myopathic Ehlers-Danlos Syndrome	Decreased muscle mass, Weakness of facial musculature, Knee flexion contracture, Patellar subluxa...	ORPHA:536516
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Blue sclerae, Heterochromia iridis	ORPHA:66633
Osteogenesis Imperfecta, Type V	Limited pronation/supination of forearm, Hyperextensibility at elbow, Wormian bones, Osteopenia, ...	OMIM:610967
Winchester Syndrome	Generalized osteoporosis, Arthropathy, Carpal osteolysis, Corneal opacity, Osteolysis involving t...	OMIM:277950
Slipped Femoral Capital Epiphyses	Hip osteoarthritis	OMIM:182260
Neuronopathy, Distal Hereditary Motor, Type X	Small thenar eminence, Fiber type grouping, Distal lower limb muscle weakness, Osteoarthritis, Sc...	OMIM:620080
Osteoarthritis With Mild Chondrodysplasia	Joint stiffness, Knee osteoarthritis, Hip osteoarthritis, Heberden's node	OMIM:604864
Corneal Dystrophy, Endothelial, X-Linked	Band keratopathy, Corneal opacity, Corneal dystrophy	OMIM:300779
Osteochondrosis Of The Tarsal Bone	Chondritis, Osteochondritis dissecans, Abnormal tarsal ossification, Arthritis, Tarsal sclerosis,...	ORPHA:563991
Ehlers-Danlos Syndrome, Hypermobility Type	Joint hypermobility, Osteoarthritis, Joint laxity, Joint dislocation	OMIM:130020
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Hip osteoarthritis, Osteoarthritis	OMIM:271600
Osteoporosis-Pseudoglioma Syndrome	Osteoporosis, Wormian bones, Osteopenia, Microphthalmia, Joint laxity, Increased susceptibility t...	ORPHA:2788
Grant Syndrome	Blue sclerae, Wormian bones	OMIM:138930
Multiple Epiphyseal Dysplasia Type 1	Knee joint hypermobility, Finger joint hypermobility, Joint stiffness, Genu varum, Osteoarthritis...	ORPHA:93308
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal opacity, Corneal dystrophy	OMIM:609140
Familial Avascular Necrosis Of Femoral Head	Limited hip movement, Hip osteoarthritis	ORPHA:86820
Osteoarthritis Susceptibility 1	Hip osteoarthritis	OMIM:165720
Epiphyseal Dysplasia, Multiple, 3	Limited elbow extension, Abnormal hip joint morphology, Osteoarthritis, Delayed epiphyseal ossifi...	OMIM:600969
Peripheral Dysostosis	Joint stiffness, Osteoarthritis	ORPHA:1795
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Joint subluxation, Osteopenia, Contracture of the proximal interphalangeal joint of the 3rd finge...	OMIM:130060
Brittle Cornea Syndrome 1	Congenital hip dislocation, Keratoglobus, Decreased corneal thickness, Keratoconus, Joint laxity,...	OMIM:229200
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Abnormal patella morphology, Genu varum, Abnormality of the knee, Myopathy, Abnormality of the ep...	ORPHA:166002
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Corneal opacity, Microphthalmia	ORPHA:2432
Talo-Patello-Scaphoid Osteolysis	Osteolysis of patellae, Osteolysis of scaphoids, Osteolysis of talus, Enlarged joints, Synovitis	ORPHA:50809
Osteogenesis Imperfecta, Type Xiv	Blue sclerae, Increased susceptibility to fractures, Osteopenia, Recurrent fractures	OMIM:615066
Desbuquois Syndrome	Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculature, Genu recurvatum, P...	ORPHA:1425
Beukes Hip Dysplasia	Shallow acetabular fossae, Osteoarthritis	OMIM:142669
Pseudoachondroplasia	Limited elbow extension, Knee joint hypermobility, Distal joint laxity, Generalized joint laxity,...	ORPHA:750
Parietal Foramina 1	Blue sclerae, Wormian bones	OMIM:168500
Mueller-Weiss Syndrome	Knee osteoarthritis, Joint subluxation, Sclerosis of foot bone, Joint stiffness, Chondritis, Arth...	ORPHA:566943
Osteogenesis Imperfecta, Type Ix	Wormian bones, Multiple prenatal fractures, Bowing of limbs due to multiple fractures, Decreased ...	OMIM:259440
Hip Dysplasia, Beukes Type	Abnormal bone ossification, Osteoarthritis, Abnormality of bone mineral density, Abnormal ossific...	ORPHA:2114
Peripheral Dysostosis	Hip osteoarthritis	OMIM:170700
Ankylosing Vertebral Hyperostosis With Tylosis	Osteoarthritis	ORPHA:2206
Dysspondyloenchondromatosis	Generalized joint laxity, Multiple enchondromatosis, Osteoarthritis, Joint dislocation, Enlarged ...	ORPHA:85198
Obsolete: Spondyloepimetaphyseal Dysplasia With Joint Laxity	Limited elbow extension, Hip dislocation, Dislocated radial head, Abnormality of the elbow, Joint...	ORPHA:93359
Glycoprotein Storage Disease	Gout	OMIM:232900
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Joint stiffness, Cataract, Osteoarthritis	ORPHA:1345
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2	Joint hypermobility, Blue sclerae, Joint dislocation, Recurrent fractures	OMIM:619120
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Flexion contracture, Blue sclerae, Thenar muscle atrophy, Osteopenia	ORPHA:157965
Cranio-Osteoarthropathy	Joint stiffness, Joint swelling, Abnormality of the knee, Osteoarthritis, Arthritis, Eczema	ORPHA:1525
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome	Osteoarthritis	ORPHA:435804
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Cataract, Decreased calvarial ossification, Joint hyperflexibility, Recurrent fractures, Blue scl...	ORPHA:2772
Cataract-Microcornea Syndrome	Cataract, Iris coloboma, Corneal dystrophy, Corneal opacity, Microcornea	ORPHA:1377
Paget Disease Of Bone 6	Recurrent fractures, Osteoarthritis, Left ventricular hypertrophy	OMIM:616833
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	Generalized morning stiffness, Arthropathy, Arthritis, Congenital finger flexion contractures, Wr...	OMIM:208250
Corneal Dystrophy-Perceptive Deafness Syndrome	Corneal opacity, Corneal dystrophy	ORPHA:1490
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans	Osteochondritis dissecans, Hip osteoarthritis, Premature osteoarthritis	OMIM:165800
Osteogenesis Imperfecta, Type Xv	Bowing of limbs due to multiple fractures, Joint hypermobility, Blue sclerae, Recurrent fractures	OMIM:615220
Mevalonic Aciduria	Cataract, Blue sclerae	ORPHA:29
Grubben-De Cock-Borghgraef Syndrome	Eczema, Blue sclerae	ORPHA:2101
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals	Synovitis, Osteolysis of talus, Osteolysis of patellae, Osteolysis of scaphoids	OMIM:609655
Grant Syndrome	Wormian bones, Joint dislocation, Decreased skull ossification, Joint hyperflexibility, Blue sclerae	ORPHA:2097
Leukodystrophy, Hypomyelinating, 25	Blue sclerae	OMIM:620243
Alkaptonuria	Reduced bone mineral density, Joint swelling, Joint stiffness, Osteoarthritis, Joint dislocation,...	ORPHA:56
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Hip osteoarthritis	OMIM:619248
Complement Component C1R/C1S Deficiency	Nephritis, Discoid lupus rash, Arthritis	OMIM:216950
Progressive Osseous Heteroplasia	Ectopic ossification in muscle tissue, Osteoarthritis, Limitation of joint mobility	ORPHA:2762
Spondyloepiphyseal Dysplasia, Kimberley Type	Osteoarthritis	ORPHA:93283
Osteogenesis Imperfecta, Type Xix	Multiple prenatal fractures, Osteopenia, Recurrent fractures, Joint hypermobility, Blue sclerae	OMIM:301014
Osteochondrosis Of The Metatarsal Bone	Sclerosis of foot bone, Joint stiffness, Chondritis, Osteochondrosis, Progressive joint destructi...	ORPHA:564003
Epiphyseal Dysplasia, Multiple, 6	Osteoarthritis, Abnormality of the knee	OMIM:614135
Ehlers-Danlos Syndrome, Classic Type, 1	Ectopia lentis, Hyperextensibility at elbow, Osteoarthritis, Joint dislocation, Hyperextensibilit...	OMIM:130000
Osteopenia-Intellectual Disability-Sparse Hair Syndrome	Joint hyperflexibility, Blue sclerae, Osteopenia, Recurrent fractures	ORPHA:2324
Laron Syndrome	Blue sclerae, Abnormality of the elbow, Osteoarthritis	ORPHA:633
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Abnormality of the knee, Protrusio acetabuli, Hip subluxation, Hip contracture, Limited hip movem...	ORPHA:99642
Pseudodiastrophic Dysplasia	Phalangeal dislocation, Camptodactyly, Blue sclerae, Elbow dislocation	OMIM:264180
Osteopetrosis, Autosomal Dominant 2	Generalized osteosclerosis, Facial paralysis, Facial palsy, Osteopetrosis, Recurrent fractures, M...	OMIM:166600
Progressive Pseudorheumatoid Dysplasia	Camptodactyly of finger, Joint swelling, Genu varum, Joint stiffness, Arthropathy, Osteoporosis, ...	OMIM:208230
Angel-Shaped Phalango-Epiphyseal Dysplasia	Hip osteoarthritis, Joint hyperflexibility	ORPHA:63442
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae	Blue sclerae	OMIM:617051
Epiphyseal Dysplasia, Multiple, 1	Generalized joint laxity, Joint stiffness, Delayed epiphyseal ossification, Genu valgum, Limited ...	OMIM:132400
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Microphthalmia, Isolated 6	Microphthalmia, Microcornea, Scleral thickening	OMIM:613517
Glaucoma 3, Primary Congenital, D	Primary congenital glaucoma, Ectopia lentis, Corneal opacity	OMIM:613086
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Reduced bone mineral density, Recurrent joint dislocation, Recurrent fractures, Joint hypermobili...	OMIM:619115
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Corneal opacity, Corneal dystrophy	ORPHA:3177
Eng-Strom Syndrome	Camptodactyly of finger, Arthritis	ORPHA:1937
Spondylosis, Cervical	Osteoarthritis	OMIM:184300
Albers-Schönberg Osteopetrosis	Generalized osteosclerosis, Osteoarthritis, Joint dislocation, Arthritis, Facial palsy, Osteomyel...	ORPHA:53
Cornea Plana 2, Autosomal Recessive	Decreased corneal thickness, Microphthalmia, Corneal arcus, Sclerocornea, Corneal opacity, Flat c...	OMIM:217300
Dysplasia Epiphysealis Hemimelica	Joint stiffness, Genu varum, Osteoarthritis, Recurrent fractures, Tarsal synostosis, Genu valgum	ORPHA:1822
Epiphyseal Dysplasia, Multiple, 5	Delayed tarsal ossification, Delayed ossification of carpal bones, Genu valgum, Premature osteoar...	OMIM:607078
Hemophilia A	Osteoarthritis, Joint hemorrhage, Muscle hemorrhage	OMIM:306700
Silver-Russell Syndrome 2	Delayed closure of the anterior fontanelle, Blue sclerae	OMIM:618905
Anterior Segment Dysgenesis 7	Cataract, Iris coloboma, Microphthalmia, Buphthalmos, Anterior synechiae of the anterior chamber,...	OMIM:269400
Hypochondroplasia	Joint hyperflexibility, Abnormality of the elbow, Osteoarthritis, Genu varum	ORPHA:429
Stickler Syndrome Type 1	Cataract, Osteoarthritis, Joint hyperflexibility	ORPHA:90653
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Knee osteoarthritis, Oligoarthritis, Joint swelling, Joint stiffness, Abnormal hip joint morpholo...	ORPHA:85408
Ophthalmomandibulomelic Dysplasia	Camptodactyly of finger, Abnormality of bone mineral density, Megalocornea, Synostosis of carpal ...	ORPHA:2741
Lattice Corneal Dystrophy Type I	Subepithelial corneal opacities, Central posterior corneal opacity, Recurrent corneal erosions, C...	ORPHA:98964
Multiple Epiphyseal Dysplasia, Beighton Type	Cataract, Joint stiffness, Abnormal hip joint morphology, Osteoarthritis, Abnormal acetabulum mor...	ORPHA:166011
Congenital Pseudoarthrosis Of The Clavicle	Osteoarthritis	ORPHA:66630
Dracunculiasis	Recurrent cutaneous abscess formation, Skin rash, Arthritis, Limitation of joint mobility, Flexio...	ORPHA:231
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Camptodactyly, Persistent open anterior fontanelle, Joint laxity, Blue sclerae, Facial hypotonia	OMIM:615539
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Hip dislocation, Generalized joint laxity, Joint dislocation, Patellar dislocation, Decreased mus...	ORPHA:1900
Congenital Atransferrinemia	Arthritis	ORPHA:1195
Hemochromatosis, Type 4	Cataract, Osteoarthritis	OMIM:606069
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Camptodactyly of finger, Dislocated radial head, Osteopenia, Joint laxity, Thenar muscle atrophy,...	OMIM:612350
Diastrophic Dysplasia	Increased bone mineral density, Camptodactyly of finger, Joint stiffness, Joint dislocation, Join...	ORPHA:628
Spondyloepiphyseal Dysplasia, Nishimura Type	Delayed epiphyseal ossification, Osteoarthritis	OMIM:618618
Spondyloepimetaphyseal Dysplasia, Irapa Type	Abnormal joint morphology, Osteoporosis, Synostosis of carpal bones, Osteoarthritis, Limitation o...	ORPHA:93351
Ulnar Hemimelia	Limited elbow extension, Abnormal calcification of the carpal bones, Abnormality of the humerouln...	ORPHA:93320
Neurodevelopmental Disorder With Absent Language And Variable Seizures	Blue sclerae, Genu recurvatum, Joint hyperflexibility	OMIM:618707
Epiphyseal Dysplasia, Multiple, 2	Osteochondritis dissecans, Knee osteoarthritis, Flattened knee epiphyses, Genu varum	OMIM:600204
Thiel-Behnke Corneal Dystrophy	Central corneal dystrophy, Subepithelial corneal opacities, Recurrent corneal erosions, Astigmati...	ORPHA:98960
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Premature osteoarthritis	OMIM:184840
Autosomal Recessive Cutis Laxa Type 2A	Congenital hip dislocation, Persistent open anterior fontanelle, Delayed cranial suture closure, ...	ORPHA:357058
Oligoarticular Juvenile Idiopathic Arthritis	Cataract, Knee osteoarthritis, Anterior chamber synechiae, Oligoarthritis, Uveitis, Band keratopa...	ORPHA:85410
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Osteoarthritis	ORPHA:166100
Corneal Dystrophy, Groenouw Type I	Cataract, Granular corneal dystrophy, Punctate corneal dystrophy, Nodular corneal dystrophy	OMIM:121900
Osteogenesis Imperfecta, Type Iii	Severe generalized osteoporosis, Wormian bones, Multiple prenatal fractures, Bowing of limbs due ...	OMIM:259420
Osteogenesis Imperfecta, Type Xi	Wormian bones, Osteopenia, Protrusio acetabuli, Joint laxity, Increased susceptibility to fractur...	OMIM:610968
Microphthalmia, Isolated 2	Opacification of the corneal stroma, Microphthalmia	OMIM:610093
Phakomatosis Pigmentovascularis	Reduced bone mineral density, Blue sclerae	ORPHA:2875
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome	Blue sclerae, EMG: myopathic abnormalities	ORPHA:457365
Galactosialidosis	Corneal opacity	ORPHA:351
Brittle Cornea Syndrome	Camptodactyly, Keratoglobus, Corneal erosion, Osteoporosis, Corneal scarring, Corneal dystrophy, ...	ORPHA:90354
Multicentric Carpotarsal Osteolysis Syndrome	Metatarsal osteolysis, Metacarpal osteolysis, Bilateral elbow dislocations, Carpal osteolysis, Os...	OMIM:166300
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Osteoarthritis of the elbow, Knee osteoarthritis, Camptodactyly of toe, Camptodactyly of finger, ...	ORPHA:2848
Dermatoosteolysis, Kirghizian Type	Osteolysis, Abnormality of the wrist, Osteoarthritis, Keratitis, Tarsal synostosis	ORPHA:1657
Multiple Epiphyseal Dysplasia Type 5	Joint stiffness, Genu varum, Abnormal hip joint morphology, Decreased hip abduction, Osteoarthrit...	ORPHA:93311
Mucous Membrane Pemphigoid	Corneal opacity	ORPHA:46486
Spondylometaphyseal Dysplasia, Pagnamenta Type	Blue sclerae, Wormian bones	OMIM:619638
Cataract 21, Multiple Types	Cerulean cataract, Cortical pulverulent cataract, Iris coloboma, Corneal opacity, Microcornea, Pe...	OMIM:610202
Cutis Laxa, Autosomal Recessive, Type Iiib	Cataract, Hip dislocation, Osteoporosis, Osteopenia, Developmental glaucoma, Flexion contracture,...	OMIM:614438
Dentinogenesis Imperfecta	Knee joint hypermobility, Finger joint hypermobility, Hyperextensibility at elbow, Joint hypermob...	ORPHA:49042
Neuropathy, Hereditary Sensory And Autonomic, Type V	Arthropathy, Osteoarthritis, Septic arthritis, Osteomyelitis, Recurrent fractures, Painless fract...	OMIM:608654
Pontocerebellar Hypoplasia, Type 1F	Blue sclerae	OMIM:619304
Osteogenesis Imperfecta, Type Xviii	Generalized osteoporosis, Wormian bones, Joint laxity, Recurrent fractures, Joint hypermobility, ...	OMIM:617952
Osteogenesis Imperfecta, Type Xiii	Increased bone mineral density, Reduced bone mineral density, Osteoporosis, Dislocated radial hea...	OMIM:614856
Lowry-Maclean Syndrome	Craniosynostosis, Megalocornea, Osteoporosis, Osteopenia, Widely patent coronal suture, Corneal o...	ORPHA:2409
White Forelock With Malformations	Blue sclerae, Joint hyperflexibility	ORPHA:2475
Spondyloepimetaphyseal Dysplasia, Irapa Type	Limited elbow extension, Genu valgum, Osteoarthritis, Capitate-hamate fusion	OMIM:271650
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Iris coloboma, Microphthalmia, Corneal opacity, Posterior embryotoxon	ORPHA:1473
Enthesitis-Related Juvenile Idiopathic Arthritis	Knee osteoarthritis, Oligoarthritis, Enthesitis, Abnormal hip joint morphology, Abnormality of th...	ORPHA:85438
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Cystic acne, Knee flexion contracture, Sterile arthritis, Colitis, Arthritis, Acne, Elbow flexion...	OMIM:604416
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Conjunctivitis, Arthritis	OMIM:617772
Idiopathic Uveal Effusion Syndrome	Abnormal anterior eye segment morphology, Microphthalmia, Scleral thickening, Abnormal sclera mor...	ORPHA:209956
Osteogenesis Imperfecta, Type Iv	Reduced bone mineral density, Wormian bones, Bowing of limbs due to multiple fractures, Increased...	OMIM:166220
Mucopolysaccharidosis, Type Ix	Chondrocalcinosis, Popliteal synovial cyst, Finger joint hypermobility, Hyperextensibility at wri...	OMIM:601492
Hemophilia B	Osteoarthritis, Joint hemorrhage	OMIM:306900
Spondyloarthropathy, Susceptibility To, 1	Inflammation of the large intestine, Oligoarthritis, Enthesitis, Psoriasiform dermatitis, Anterio...	OMIM:106300
Keratitis, Hereditary	Keratitis, Opacification of the corneal stroma	OMIM:148190
Temtamy Preaxial Brachydactyly Syndrome	Proximal radio-ulnar synostosis, Abnormally large globe, Abnormal lens morphology, Proximal symph...	ORPHA:363417
Anterior Segment Dysgenesis 2	Cataract, Congenital aphakia, Anterior segment of eye aplasia, Microphthalmia, Posterior synechia...	OMIM:610256
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia	Cataract, Blue sclerae	OMIM:619286
Spondyloepiphyseal Dysplasia Tarda	Knee osteoarthritis, Increased bone mineral density, Stiff knee, Joint swelling, Increased inflam...	ORPHA:93284
Vernal Keratoconjunctivitis	Punctate keratitis, Abnormal conjunctiva morphology, Abnormal sclera morphology, Abnormal cornea ...	ORPHA:70476
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Reduced bone mineral density, Polyarticular arthritis, Joint swelling, Progressive joint destruct...	ORPHA:85435
Mucolipidosis Type Iii	Acne, Corneal opacity, Reduced bone mineral density, Joint stiffness	ORPHA:577
Desbuquois Dysplasia 1	Genu varum, Flat acetabular roof, Osteoporosis, Advanced ossification of carpal bones, Advanced t...	OMIM:251450
Morquio Syndrome C	Corneal opacity	OMIM:252300
Temtamy Preaxial Brachydactyly Syndrome	Carpal synostosis, Blue sclerae, Radioulnar synostosis, Tarsal synostosis	OMIM:605282
Cole-Carpenter Syndrome 2	Coronal craniosynostosis, Wormian bones, Osteopenia, Lambdoidal craniosynostosis, Recurrent fract...	OMIM:616294
Osteogenesis Imperfecta, Type Ii	Wormian bones, Multiple prenatal fractures, Absent ossification of calvaria, Recurrent fractures,...	OMIM:166210
Developmental And Epileptic Encephalopathy 28	Blue sclerae	OMIM:616211
Chromosome 6Pter-P24 Deletion Syndrome	Posterior embryotoxon, Joint laxity, Opacification of the corneal stroma, Blue sclerae, Axenfeld ...	OMIM:612582
Cutis Laxa, Autosomal Recessive, Type Iib	Congenital hip dislocation, Decreased muscle mass, Wormian bones, Osteopenia, Joint hypermobility...	OMIM:612940
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Craniosynostosis, Generalized osteoporosis, Hip dislocation, Abnormally large globe, Left ventric...	OMIM:245600
Anterior Segment Dysgenesis 5	Microphthalmia, Hypoplasia of the iris, Anterior synechiae of the anterior chamber, Sclerocornea,...	OMIM:604229
Hereditary Methemoglobinemia	Blue sclerae	ORPHA:621
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Eczema, Blue sclerae, Patellar hypoplasia	ORPHA:464288
Bilateral Striopallidodentate Calcinosis	Corneal opacity	ORPHA:1980
Osteogenesis Imperfecta, Type I	Finger joint hypermobility, Wormian bones, Osteopenia, Increased susceptibility to fractures, Rec...	OMIM:166200
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Hip dislocation, Advanced ossification of carpal bones, Osteopenia, Carpal synostosis, Joint laxi...	OMIM:615349
Macular Dystrophy, Corneal	Recurrent corneal erosions, Punctate opacification of the cornea, Corneal dystrophy	OMIM:217800
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Hip dislocation, Generalized joint laxity, Genu varum, Laryngotracheomalacia, Abnormally shaped c...	ORPHA:93360
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Developmental cataract, Flexion contracture, Corneal opacity	OMIM:618815
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Blue sclerae	ORPHA:231137
Marshall-Smith Syndrome	Craniosynostosis, Reduced bone mineral density, Increased susceptibility to fractures, Joint hype...	ORPHA:561
Corneal Dystrophy, Reis-Bucklers Type	Corneal erosion, Opacification of the corneal stroma, Corneal opacity, Corneal dystrophy	OMIM:608470
Osteogenesis Imperfecta, Type Xvi	Wormian bones, Osteopenia, Decreased calvarial ossification, Recurrent fractures, Joint hypermobi...	OMIM:616229
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Reduced bone mineral density, Corneal opacity	ORPHA:2370
Autosomal Dominant Keratitis	Cataract, Bilateral microphthalmos, Hypoplastic iris stroma, Limbal stem cell deficiency, Abnorma...	ORPHA:2334
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy	OMIM:271310
Blau Syndrome	Cataract, Camptodactyly of finger, Joint swelling, Flexion contracture of toe, Uveitis, Arthritis...	OMIM:186580
Vertebral Hypersegmentation And Orofacial Anomalies	Joint hypermobility, Blue sclerae, Scapular winging	OMIM:619122
Stickler Syndrome, Type I	Cataract, Joint stiffness, Arthropathy, Osteoarthritis, Arthritis, Joint hypermobility	OMIM:108300
Hypophosphatasia, Infantile	Craniosynostosis, Decreased calvarial ossification, Increased susceptibility to fractures, Widely...	OMIM:241500
Melorheostosis	Increased bone mineral density, Joint stiffness, Skeletal muscle atrophy, Arthritis, Ectopic ossi...	ORPHA:2485
Silver-Russell Syndrome 1	Blue sclerae, Delayed cranial suture closure	OMIM:180860
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Flexion contracture, Blue sclerae, Delayed cranial suture closure	OMIM:619383
Braddock Syndrome	Congenital muscular torticollis, Blue sclerae	ORPHA:52047
Multicentric Reticulohistiocytosis	Arthritis	ORPHA:139436
Pseudoachondroplasia	Limited elbow extension, Ulnar deviation of the wrist, Genu varum, Limited shoulder movement, Gen...	OMIM:177170
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Corneal opacity, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris	ORPHA:1067
Congenital Primary Aphakia	Congenital aphakia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior segment of the eye, M...	ORPHA:83461
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Joint hypermobility, Blue sclerae	OMIM:617101
Microphthalmia, Isolated 5	Cataract, Microphthalmia, Scleral thickening	OMIM:611040
Otospondylomegaepiphyseal Dysplasia	Cataract, Abnormal joint morphology, Osteoarthritis, Enlarged joints, Limitation of joint mobilit...	ORPHA:1427
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Opacification of the corneal stroma, Hip osteoarthritis, Limitation of joint mobility	OMIM:313400
Alpha-Mannosidosis	Macroglossia, Chronic otitis media, Cataract, Synostosis of joints, Arthritis, Corneal opacity	ORPHA:61
Ehlers-Danlos Syndrome, Periodontal Type, 1	Generalized joint laxity, Joint dislocation, Periodontitis, Joint laxity, Blue sclerae	OMIM:130080
Wild Type Abeta2M Amyloidosis	Macroglossia, Abnormality of the thenar eminence, Abnormal tendon morphology, Arthropathy, Arthritis	ORPHA:85446
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal guttata, Corneal stromal edema, Corneal opacity	OMIM:613267
X-Linked Endothelial Corneal Dystrophy	Nuclear cataract, Abnormal corneal endothelium morphology, Corneal opacity, Band keratopathy	ORPHA:293621
Bullous Impetigo	Septic arthritis, Recurrent bacterial skin infections, Pustule	ORPHA:36237
Cole-Carpenter Syndrome	Blue sclerae, Wormian bones, Joint hyperflexibility, Recurrent fractures	ORPHA:2050
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Camptodactyly of finger, Blue sclerae, Iris coloboma, Microphthalmia	ORPHA:1236
Ehlers-Danlos Syndrome, Classic-Like, 2	Hip dislocation, Generalized joint laxity, Osteoporosis, Osteoarthritis, Shoulder dislocation, Os...	OMIM:618000
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Limitation of joint mobility, Arthritis	ORPHA:2582
Amoebic Keratitis	Cataract, Corneal perforation, Corneal ulceration, Abnormal corneal epithelium morphology, Scleri...	ORPHA:67043
Desbuquois Dysplasia 2	Hip dislocation, Genu varum, Flat acetabular roof, Advanced ossification of carpal bones, Knee di...	OMIM:615777
Morgagni-Stewart-Morel Syndrome	Acne, Osteoporosis, Osteoarthritis	ORPHA:77296
Sialidosis Type 2	Flexion contracture, Osteoporosis, Skeletal muscle atrophy, Corneal opacity	ORPHA:87876
Coronary Artery Disease, Autosomal Dominant 2	Osteoporosis, Gout	OMIM:610947
Megalocornea	Cataract, Megalocornea, Astigmatism, Iridodonesis, Mosaic corneal dystrophy, Decreased corneal th...	OMIM:309300
Musculocontractural Ehlers-Danlos Syndrome	Craniosynostosis, Generalized joint laxity, Myopathy, Decreased muscle mass, Astigmatism, Recurre...	ORPHA:2953
Corneal Dystrophy, Posterior Polymorphous, 1	Ectopia pupillae, Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology,...	OMIM:122000
Idiopathic Camptocormia	Abnormal muscle fiber dysferlin, EMG: myopathic abnormalities, Osteoarthritis, Fatty replacement ...	ORPHA:1320
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Arthritis, Purulent rhinitis, Pneumonia, Conjunctivitis, Otitis media	OMIM:601457
Limbal Stem Cell Deficiency	Corneal perforation, Opacification of the corneal epithelium, Corneal scarring, Cornea verticilla...	ORPHA:171673
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Blue sclerae, Joint laxity	ORPHA:391408
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Cataract, Microcornea, Posterior staphyloma	OMIM:619082
Corneal Dystrophy And Perceptive Deafness	Opacification of the corneal stroma, Corneal dystrophy	OMIM:217400
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Blue sclerae	OMIM:616817
Bartsocas-Papas Syndrome 2	Microphthalmia, Axillary pterygium, Corneal opacity, Popliteal pterygium, Antecubital pterygium	OMIM:619339
Spondylodysplastic Ehlers-Danlos Syndrome	Generalized joint laxity, Joint dislocation, Patellar dislocation, Radial head subluxation, Incre...	ORPHA:536471
Gómez-López-Hernández Syndrome	Corneal opacity	ORPHA:1532
Stickler Syndrome Type 2	Cataract, Corneal opacity	ORPHA:90654
Keratoendotheliitis Fugax Hereditaria	Conjunctival hyperemia, Keratitis, Opacification of the corneal stroma	OMIM:148200
De Barsy Syndrome	Cataract, Congenital hip dislocation, Generalized joint laxity, Decreased muscle mass, Wormian bo...	ORPHA:2962
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Iris coloboma, Uveitis, Microphthalmia, Buphthalmos, Persistent pupillary membrane, Pht...	OMIM:221900
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Blue sclerae, Conjunctivitis, Scapular winging	OMIM:615560
Papa Syndrome	Increased inflammatory response, Pustule, Arthritis, Acne, Limitation of joint mobility, Crohn's ...	ORPHA:69126
Mietens Syndrome	Cataract, Elbow ankylosis, Hip dislocation, Joint stiffness, Sclerocornea, Corneal opacity, Micro...	ORPHA:2557
Incontinentia Pigmenti	Cataract, Camptodactyly of finger, Osteolysis, Skin rash, Uveitis, Microphthalmia, Infectious enc...	ORPHA:464
Congenital Hereditary Endothelial Dystrophy Type Ii	Irregular astigmatism, Corneal stromal edema, Increased corneal thickness, Corneal opacity, Abnor...	ORPHA:293603
Alkaptonuria	Vertebral fusion, Arthropathy, Pigmentation of the sclera, Limited shoulder movement, Arthritis, ...	OMIM:203500
Idiopathic Non-Lupus Full-House Nephropathy	Glomerulonephritis, Skin rash, Arthritis, Synovitis, Serositis	ORPHA:567544
Melioidosis	Osteoarthritis, Parotitis, Hepatitis, Septic arthritis, Foot osteomyelitis, Cutaneous abscess, Pn...	ORPHA:31202
Loeys-Dietz Syndrome 5	Decreased muscle mass, Flexion contracture of toe, Osteoarthritis, Scapular winging, Congenital f...	OMIM:615582
Opsismodysplasia	Abnormally ossified vertebrae, Blue sclerae, Joint stiffness	ORPHA:2746
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Cataract, Left ventricular hypertrophy, Muscular dystrophy, Microphthalmia, Corneal opacity	OMIM:613153
Obsolete: Isolated Optic Nerve Hypoplasia/Aplasia	Aplasia/Hypoplasia of the iris, Unilateral microphthalmos, Corneal opacity	ORPHA:137902
Saul-Wilson Syndrome	Cataract, Madelung deformity, Blue sclerae	OMIM:618150
Diarrhea 5, With Tufting Enteropathy, Congenital	Arthritis	OMIM:613217
Wiedemann-Steiner Syndrome	Recurrent otitis media, Blue sclerae, Joint laxity, Contracture of the distal interphalangeal joi...	OMIM:605130
Pycnodysostosis	Generalized osteosclerosis, Coronal craniosynostosis, Increased bone mineral density, Persistent ...	ORPHA:763
Al-Gazali Syndrome	Proximal radio-ulnar synostosis, Osteopenia, Recurrent pneumonia, Sclerocornea, Corneal opacity, ...	OMIM:609465
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Craniosynostosis, Tracheomalacia, Torticollis, Large joint dislocations, Osteoporosis, Osteopenia...	ORPHA:536467
Spondylometaphyseal Dysplasia, Kozlowski Type	Genu varum, Flat acetabular roof, Abnormal enchondral ossification, Delayed epiphyseal ossificati...	ORPHA:93314
Granular Corneal Dystrophy Type Ii	Subepithelial corneal opacities, Granular corneal dystrophy, Recurrent corneal erosions, Corneal ...	ORPHA:98963
Combined Oxidative Phosphorylation Deficiency 55	Genu varum, Myopathy, Skeletal muscle atrophy, Hypophosphatemic rickets, Type 2 muscle fiber pred...	OMIM:619743
Psoriasis 1, Susceptibility To	Psoriasiform dermatitis, Arthritis	OMIM:177900
Juvenile Idiopathic Arthritis	Abnormal joint morphology, Joint swelling, Joint stiffness, Skin rash, Uveitis, Abnormal sacroili...	ORPHA:92
Immunodeficiency 61	Recurrent otitis media, Arthritis, Recurrent sinusitis	OMIM:300310
Sydenham Chorea	Septic arthritis, Endocarditis	ORPHA:306731
Congenital Rubella Syndrome	Cataract, Skin rash, Microphthalmia, Corneal opacity, Aplasia/Hypoplasia of the iris	ORPHA:290
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Recurrent pneumonia, Flexion contracture, Enlarged joints, Premature osteoarthritis	OMIM:215150
Peters Anomaly	Subcapsular cataract, Thinning of Descemet membrane, Anterior synechiae of the anterior chamber, ...	ORPHA:708
Roberts Syndrome	Craniosynostosis, Cataract, Patellar aplasia, Knee flexion contracture, Synostosis of carpal bone...	ORPHA:3103
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Congenital hip dislocation, Osteoporosis, Joint dislocation, Osteopenia, Protrusio acetabuli, Rec...	OMIM:225400
Osteogenesis Imperfecta, Type Xx	Blue sclerae, Wormian bones, Multiple prenatal fractures	OMIM:618644
Spondyloepimetaphyseal Dysplasia, Missouri Type	Limited elbow extension, Osteoarthritis, Genu varum	OMIM:602111
Ophthalmomandibulomelic Dysplasia	Elbow dislocation, Megalocornea, Radioulnar dislocation, Opacification of the corneal stroma, Dec...	OMIM:164900
Microphthalmia, Syndromic 16	Sclerocornea, Microphthalmia	OMIM:611038
Mevalonic Aciduria	Morbilliform rash, Cataract, Skin rash, Nuclear cataract, Blue sclerae	OMIM:610377
Multiple Epiphyseal Dysplasia Type 4	Joint stiffness, Delayed femoral head ossification, Metatarsal synostosis, Dislocation of the fem...	ORPHA:93307
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Osteopenia, Delayed closure of the anterior fontanelle, Joint laxity, Recurrent mandibular sublux...	OMIM:225410
Zika Virus Disease	Maculopapular exanthema, Iris coloboma, Skin rash, Arthritis, Wrist swelling, Infectious encephal...	ORPHA:448237
Hypophosphatemic Rickets, X-Linked Dominant	Rickets, Osteoarthritis, Osteomalacia, Hypophosphatemic rickets, Genu valgum	OMIM:307800
Farber Lipogranulomatosis	Ulnar deviation of the wrist, Osteolysis involving bones of the feet, Joint swelling, Arthritis, ...	OMIM:228000
Sjogren-Larsson Syndrome	Opacification of the corneal epithelium, Flexion contracture, Astigmatism	OMIM:270200
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Knee flexion contracture, Joint laxity, Hip contracture, Developmental cataract, Blue sclerae, Co...	ORPHA:488642
Dermochondrocorneal Dystrophy	Joint subluxation, Subepithelial corneal opacities, Irregular tarsal ossification, Corneal dystro...	OMIM:221800
8P Inverted Duplication/Deletion Syndrome	Blue sclerae, Hip dislocation, Small hypothenar eminence, Contractures of the large joints	ORPHA:96092
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Craniosynostosis, Dislocated radial head, Genu recurvatum, Joint dislocation, Osteopenia, Radioul...	OMIM:130070
Erythrokeratodermia Variabilis	Cataract, Corneal opacity, Skin rash	ORPHA:317
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Cataract, Astigmatism, Microphthalmia, Corneal opacity, Myopic astigmatism, Microcornea	OMIM:152950
Posterior Polymorphous Corneal Dystrophy	Ectopia pupillae, Astigmatism, Anterior synechiae of the anterior chamber, Corneal stromal edema,...	ORPHA:98973
Hallermann-Streiff Syndrome	Cataract, Tracheomalacia, Iris coloboma, Decreased number of sternal ossification centers, Wormia...	OMIM:234100
Goldberg-Shprintzen Syndrome	Corneal ulceration, Limb hypertonia, Megalocornea, Corneal erosion, Blue sclerae	OMIM:609460
Osteogenesis Imperfecta, Type X	Generalized joint laxity, Osteopenia, Decreased calvarial ossification, Recurrent pneumonia, Join...	OMIM:613848
Nail-Patella Syndrome	Abnormal iris pigmentation, Patellar dislocation, Achilles tendon contracture, Patellar aplasia, ...	ORPHA:2614
Norrie Disease	Cataract, Microphthalmia, Buphthalmos, Shallow anterior chamber, Hypoplasia of the iris, Corneal ...	OMIM:310600
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Myopathy, Lower limb muscle weakness, EMG: myopathic abnormalities, Arthritis, Fatty replacement ...	ORPHA:397744
Epithelial Recurrent Erosion Dystrophy	Subepithelial corneal opacities, Recurrent corneal erosions, Corneal scarring, Keratoconjunctivit...	ORPHA:293381
Silver-Russell Syndrome	Decreased muscle mass, Blue sclerae, Delayed cranial suture closure	ORPHA:813
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Blue sclerae, Genu valgum, Tubulointerstitial nephritis	ORPHA:488627
Brachycephaly, Trichomegaly, And Developmental Delay	Blue sclerae	OMIM:617412
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Anterior Segment Dysgenesis 6	Posterior synechiae of the anterior chamber, Corneal opacity, Developmental glaucoma, Abnormal De...	OMIM:617315
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Hip dislocation, Ectopia lentis, Pathologic fracture, Osteoporosis, Advanced ossification of carp...	OMIM:271640
Marshall Syndrome	Cataract, Genu valgum, Osteoarthritis, Ectopia lentis	ORPHA:560
Kyphoscoliotic Ehlers-Danlos Syndrome	Hip dislocation, Congenital hip dislocation, Myopathy, Osteoporosis, Skeletal muscle atrophy, Sho...	ORPHA:536545
Fuchs Endothelial Corneal Dystrophy	Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology, Corneal opacity, ...	ORPHA:98974
Felty Syndrome	Chronic otitis media, Abnormal joint morphology, Osteolysis, Arthritis, Episcleritis, Sinusitis, ...	ORPHA:47612
Granular Corneal Dystrophy Type I	Central corneal dystrophy, Subepithelial corneal opacities, Abnormal corneal epithelium morpholog...	ORPHA:98962
Neonatal Marfan Syndrome	Ectopia lentis, Megalocornea, Iridodonesis, Joint hypermobility, Flexion contracture, Blue sclerae	ORPHA:284979
Multicentric Osteolysis, Nodulosis, And Arthropathy	Camptodactyly of toe, Sclerotic cranial sutures, Metatarsal osteolysis, Metacarpal osteolysis, Pe...	OMIM:259600
Kabuki Syndrome 2	Recurrent otitis media, Blue sclerae, Joint laxity, Hip dislocation	OMIM:300867
Mucolipidosis Iv	Corneal opacity, Opacification of the corneal stroma	OMIM:252650
Trichorhinophalangeal Syndrome, Type I	Ivory epiphyses of the distal phalanges of the hand, Osteoarthritis, Osteopenia, Scapular winging	OMIM:190350
Osteogenesis Imperfecta, Type Xii	Generalized osteoporosis, Osteoporosis, Wormian bones, Abnormal sclera morphology, Recurrent frac...	OMIM:613849
Hurler-Scheie Syndrome	Rhinitis, Corneal opacity, Limitation of joint mobility	ORPHA:93476
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Skin rash, Arthritis, Sinusitis, Inflammatory abnormality ...	ORPHA:229717
Muckle-Wells Syndrome	Camptodactyly of finger, Skin rash, Recurrent aphthous stomatitis, Uveitis, Arthritis, Episclerit...	ORPHA:575
Gm1-Gangliosidosis, Type Iii	Skeletal muscle atrophy, Hypoplastic acetabulae, Opacification of the corneal stroma	OMIM:230650
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Opacification of the corneal ...	OMIM:217700
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Myopathy, Type 1 muscle fiber predominance, Skeletal muscle atrophy, Osteopenia, Blue sclerae, Mi...	OMIM:614557
Macular Corneal Dystrophy	Recurrent corneal erosions, Punctate opacification of the cornea, Corneal crystals, Decreased cor...	ORPHA:98969
Systemic Lupus Erythematosus, Susceptibility To, 6	Malar rash, Pericarditis, Arthritis	OMIM:609939
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Diastasis recti, Generalized joint laxity, Distal arthrogryposis, Astigmatism, Abnormal anterior ...	OMIM:601776
Autosomal Agammaglobulinemia	Chronic otitis media, Skin rash, Arthritis, Hepatitis, Sinusitis, Recurrent skin infections, Bron...	ORPHA:33110
Congenital Disorder Of Glycosylation, Type It	Rhabdomyolysis, Chronic hepatitis, Hepatitis, Recurrent otitis media, Blue sclerae	OMIM:614921
Scheie Syndrome	Corneal opacity, Genu valgum	OMIM:607016
Eosinophilic Fasciitis	Arthritis, Myositis, Muscular edema, Fasciitis	ORPHA:3165
Vertical Talus, Congenital	Arthritis	OMIM:192950
Pelvis-Shoulder Dysplasia	Congenital hip dislocation, Iris coloboma, Hypoplastic acetabulae, Microphthalmia, Opacification ...	OMIM:169550
Familial Cold Autoinflammatory Syndrome 1	Uveitis, Conjunctivitis, Arthritis, Skin rash	OMIM:120100
Gaucher Disease Type 1	Increased bone mineral density, Osteolysis, Pathologic fracture, Osteoarthritis, Osteopenia	ORPHA:77259
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Genu varum	ORPHA:93356
Harel-Yoon Syndrome	Distal amyotrophy, Developmental cataract, Corneal opacity	OMIM:617183
Familial Cold Autoinflammatory Syndrome 2	Recurrent aphthous stomatitis, Erythema nodosum, Arthritis, Skin rash	OMIM:611762
Corneal Dystrophy, Meesmann, 1	Punctate opacification of the cornea, Corneal dystrophy	OMIM:122100
Frontometaphyseal Dysplasia 2	Camptodactyly, Congenital hip dislocation, Decreased muscle mass, Dislocated radial head, Ulcerat...	OMIM:617137
Osteootohepatoenteric Syndrome	Reduced bone mineral density, Blue sclerae, Recurrent fractures	OMIM:619377
Autosomal Dominant Spastic Paraplegia Type 36	Arthritis	ORPHA:320365
Wilson Disease	Acute hepatitis, Proximal muscle weakness in lower limbs, Joint swelling, Pathologic fracture, Ar...	ORPHA:905
Cutis Laxa, Autosomal Dominant 3	Hip dislocation, Wormian bones, Osteopenia, Delayed cranial suture closure, Joint laxity, Corneal...	OMIM:616603
Rat-Bite Fever	Myocarditis, Morbilliform rash, Oligoarthritis, Maculopapular exanthema, Endocarditis, Skin rash,...	ORPHA:31205
Pseudoxanthoma Elasticum	Acne, Blue sclerae, Joint hyperflexibility, Skin rash	ORPHA:758
Periodic Fever, Familial, Autosomal Dominant	Oligoarthritis, Polyarticular arthritis, Maculopapular exanthema, Skin rash, Erysipelas, Conjunct...	OMIM:142680
Olmsted Syndrome 1	Flexion contracture, Corneal opacity, Opacification of the corneal stroma	OMIM:614594
Farber Disease	Joint swelling, Abnormality of the knee, Osteoporosis, Skeletal muscle atrophy, Abnormality of th...	ORPHA:333
Loeys-Dietz Syndrome 6	Knee osteoarthritis, Hip osteoarthritis, Intervertebral disc degeneration	OMIM:619656
8Q21.11 Microdeletion Syndrome	Cataract, Camptodactyly of finger, Iris hypopigmentation, Microphthalmia, Sclerocornea, Corneal o...	ORPHA:284160
Non Rare In Europe: Buschke-Ollendorff Syndrome	Craniosynostosis, Generalized osteosclerosis, Joint stiffness, Arthritis, Recurrent fractures, Fl...	ORPHA:1306
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Craniofacial osteosclerosis, Osteolysis, Inflammation of the large intestine, Skin rash, Abnormal...	ORPHA:324964
Systemic Lupus Erythematosus	Malar rash, Lupus nephritis, Arthritis, Nephritis, Pericarditis	OMIM:152700
Marfan Syndrome	Cataract, Limited elbow extension, Camptodactyly, Ectopia lentis, Decreased muscle mass, Astigmat...	OMIM:154700
Persistent Hyperplastic Primary Vitreous	Cataract, Microphthalmia, Buphthalmos, Persistent pupillary membrane, Phthisis bulbi, Shallow ant...	ORPHA:91495
Graft Versus Host Disease	Gastrointestinal inflammation, Acute hepatitis, Inflammatory abnormality of the skin, Maculopapul...	ORPHA:39812
Osteogenesis Imperfecta, Type Vii	Wormian bones, Multiple prenatal fractures, Delayed cranial suture closure, Osteopenia, Protrusio...	OMIM:610682
Nasopalpebral Lipoma-Coloboma Syndrome	Cataract, Bilateral microphthalmos, Abnormality of cartilage of external ear, Microphthalmia, Con...	ORPHA:2399
Spondyloepimetaphyseal Dysplasia, Shohat Type	Genu varum, Delayed epiphyseal ossification, Joint laxity, Premature osteoarthritis, Generalized ...	ORPHA:93352
Mucolipidosis Type Iv	Aplasia/Hypoplasia of the abdominal wall musculature, Genu recurvatum, Corneal opacity	ORPHA:578
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Keratoconjunctivitis sicca, Corneal dystrophy, Microphthalmia, Sclerocornea, Microcornea	ORPHA:1806
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Arthritis, Crescentic glomerulonephritis	OMIM:616414
Schnitzler Syndrome	Increased bone mineral density, Arthritis, Skin rash	ORPHA:37748
Pfapa Syndrome	Infectious encephalitis, Arthritis	ORPHA:42642
Atopic Keratoconjunctivitis	Chemosis, Keratoconjunctivitis sicca, Blepharitis, Corneal opacity, Keratitis, Corneal neovascula...	ORPHA:163934
Moderate Hemophilia A	Joint swelling, Intramuscular hematoma, Arthropathy, Joint hemorrhage, Cartilage destruction, Hip...	ORPHA:169805
Osteogenesis Imperfecta	Osteoporosis, Dislocated radial head, Osteoarthritis, Wormian bones, Osteopenia, Protrusio acetab...	ORPHA:666
Wilson Disease	Chondrocalcinosis, Atypical or prolonged hepatitis, Osteoporosis, Osteoarthritis, Osteomalacia, J...	OMIM:277900
Brachyolmia Type 1, Toledo Type	Opacification of the corneal stroma, Precocious costochondral ossification	OMIM:271630
Microphthalmia, Isolated, With Coloboma 9	Iris coloboma, Microphthalmia, Sclerocornea, Microcornea, Ocular anterior segment dysgenesis	OMIM:615145
Short Syndrome	Megalocornea, Abnormal pupil morphology, Abnormal anterior chamber morphology, Hypoplasia of the ...	ORPHA:3163
Familial Cold Urticaria	Conjunctivitis, Arthritis	ORPHA:47045
Gaucher Disease	Increased bone mineral density, Osteolysis, Joint stiffness, Osteoarthritis, Joint dislocation, O...	ORPHA:355
Yao Syndrome	Inflammatory abnormality of the skin, Skin rash, Keratoconjunctivitis sicca, Arthritis, Pericarditis	OMIM:617321
Oculomaxillofacial Dysostosis	Camptodactyly of finger, Corneal opacity	ORPHA:1794
3Q29 Microduplication Syndrome	Craniosynostosis, Cataract, Camptodactyly of toe, Iris coloboma, Microphthalmia, Aniridia, Sclero...	ORPHA:251038
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	Joint hypermobility, Lower limb hypertonia, Blue sclerae	OMIM:616728
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Craniosynostosis, Aniridia, Corneal opacity, Developmental glaucoma	ORPHA:1064
Combined Oxidative Phosphorylation Deficiency 53	Septic arthritis, Generalized amyotrophy, Osteomyelitis, Arthritis	OMIM:619423
Rheumatoid Arthritis	Polyarticular arthritis, Joint stiffness, Joint swelling, Digital flexor tenosynovitis, Rheumatoi...	OMIM:180300
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Sclerotic cranial sutures, Osteolysis, Iris coloboma, Arthropathy, Osteoporosis, Osteolysis invol...	ORPHA:371428
X-Linked Agammaglobulinemia	Chronic otitis media, Recurrent cutaneous abscess formation, Skin rash, Arthritis, Hepatitis, Sin...	ORPHA:47
Pseudoxanthoma Elasticum, Forme Fruste	Blue sclerae	OMIM:177850
Rodrigues Blindness	Sclerocornea, Microcornea, Microphthalmia	OMIM:268320
Hemochromatosis, Type 2A	Arthritis	OMIM:602390
Trisomy 8P	Astigmatism, Metopic suture patent to nasal root, Multiple joint contractures, Blue sclerae, Hete...	ORPHA:264450
Chromosome 9P Deletion Syndrome	Blue sclerae	OMIM:158170
Cartilage-Hair Hypoplasia	Limited elbow extension, Aplasia/Hypoplasia of the abdominal wall musculature, Joint hyperflexibi...	ORPHA:175
Kabuki Syndrome	Hip dislocation, Joint hyperflexibility, Congenital diaphragmatic hernia, Blue sclerae, Microcornea	ORPHA:2322
Sapho Syndrome	Craniofacial osteosclerosis, Osteolysis, Inflammation of the large intestine, Enthesitis, Skin ra...	ORPHA:793
Insensitivity To Pain, Congenital, With Anhidrosis	Corneal ulceration, Recurrent corneal erosions, Corneal scarring, Neuropathic arthropathy, Osteom...	OMIM:256800
Stickler Syndrome	Macroglossia, Chronic otitis media, Reduced bone mineral density, Cataract, Hip dislocation, Ecto...	ORPHA:828
Fibromuscular Dysplasia, Multifocal	Joint hypermobility, Joint subluxation, Shoulder subluxation, Blue sclerae	OMIM:619329
Walker-Warburg Syndrome	Cataract, Iris coloboma, Muscular dystrophy, Skeletal muscle atrophy, Microphthalmia, Corneal opa...	ORPHA:899
Familial Mediterranean Fever	Peritonitis, Orchitis, Skin rash, Erysipelas, Pancreatitis, Osteoarthritis, Arthritis, Pericarditis	ORPHA:342
Brucellosis	Myocarditis, Knee osteoarthritis, Pericarditis, Glomerulonephritis, Orchitis, Endocarditis, Arthr...	ORPHA:1304
Psoriasis-Related Juvenile Idiopathic Arthritis	Malar rash, Oligoarthritis, Polyarticular arthritis, Generalized morning stiffness, Abnormality o...	ORPHA:85436
Hypermobile Ehlers-Danlos Syndrome	Aplasia/Hypoplasia of the abdominal wall musculature, Hip dislocation, Osteolysis, Abnormality of...	ORPHA:285
Fish-Eye Disease	Opacification of the corneal stroma	OMIM:136120
Adult-Onset Still Disease	Myocarditis, Joint swelling, Skin rash, Arthritis, Hepatitis, Cartilage destruction, Pericarditis	ORPHA:829
Hurler-Scheie Syndrome	Camptodactyly of finger, Joint stiffness, Contracture of the distal interphalangeal joint of the ...	OMIM:607015
Lesch-Nyhan Syndrome	Gout	ORPHA:510
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Recurrent otitis media, Keratitis, Conjunctivitis, Corneal opacity	OMIM:602562
Alpha-Mannosidosis, Adult Form	Macroglossia, Cataract, Osteopenia, Corneal opacity, Pneumonia	ORPHA:309288
Cinca Syndrome	Patellar overgrowth, Uveitis, Arthritis, Skin rash	OMIM:607115
Bartsocas-Papas Syndrome	Corneal opacity, Synostosis of joints, Popliteal pterygium	ORPHA:1234
Microphthalmia With Brain And Digit Anomalies	Cataract, Iris coloboma, Microphthalmia, Sclerocornea, Microcornea	ORPHA:139471
Kid Syndrome	Acne inversa, Recurrent cutaneous abscess formation, Keratitis, Recurrent bacterial skin infectio...	ORPHA:477
Hypocomplementemic Urticarial Vasculitis	Skin rash, Uveitis, Joint dislocation, Arthritis, Episcleritis, Inflammatory abnormality of the e...	ORPHA:36412
Premature Aging Syndrome, Penttinen Type	Osteolytic defects of the distal phalanges of the hand, Osteoporosis, Wormian bones, Flexion cont...	OMIM:601812
Hemochromatosis, Type 3	Arthritis	OMIM:604250
Marshall-Smith Syndrome	Craniosynostosis, Aspiration pneumonia, Large sternal ossification centers, Wormian bones, Recurr...	OMIM:602535
Severe Hemophilia A	Joint swelling, Intramuscular hematoma, Progressive joint destruction, Joint hemorrhage, Limitati...	ORPHA:169802
Scheie Syndrome	Rhinitis, Corneal opacity, Joint stiffness, Limitation of joint mobility	ORPHA:93474
Robinow Syndrome, Autosomal Dominant 3	Camptodactyly, Blue sclerae	OMIM:616894
Anterior Segment Dysgenesis 1	Opacification of the corneal stroma, Posterior polar cataract, Microcornea, Peters anomaly, Ocula...	OMIM:107250
Majeed Syndrome	Increased bone mineral density, Inflammatory abnormality of the skin, Pustule, Acne, Increased su...	ORPHA:77297
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Eczematoid dermatitis, Arthropathy, Osteoporosis, Wormian bones, Arthritis, Osteopenia, Osteolyti...	OMIM:259100
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Cataract, Lower limb amyotrophy, Corneal opacity	ORPHA:496790
Hereditary Bullous Dystrophy, Macular Type	Cataract, Corneal opacity, Pneumonia	ORPHA:1867
Mucopolysaccharidosis, Type Ivb	Ulnar deviation of the wrist, Joint stiffness, Cervical subluxation, Osteoporosis, Joint laxity, ...	OMIM:253010
Loeys-Dietz Syndrome	Craniosynostosis, Camptodactyly of finger, Joint dislocation, Joint hyperflexibility, Blue sclerae	ORPHA:60030
Relapsing Polychondritis	Myocarditis, Cataract, Keratitis, Chondritis, Recurrent aphthous stomatitis, Scleritis, Uveitis, ...	ORPHA:728
Aneurysm-Osteoarthritis Syndrome	Craniosynostosis, Knee osteoarthritis, Camptodactyly of finger, Left ventricular hypertrophy, Ost...	ORPHA:284984
Rutherfurd Syndrome	Opacification of the corneal stroma, Corneal dystrophy	OMIM:180900
Anti-Glomerular Basement Membrane Disease	Arthritis	ORPHA:375
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Nephritis, Gout	OMIM:162000
Autosomal Recessive Robinow Syndrome	Chronic otitis media, Camptodactyly of finger, Synostosis of carpal bones, Blue sclerae, Elbow di...	ORPHA:1507
Behcet Syndrome	Erythema nodosum, Iritis, Arthritis, Iridocyclitis, Hypopyon, Epididymitis	OMIM:109650
Mucopolysaccharidosis, Type Vii	Macroglossia, Joint stiffness, Acetabular dysplasia, Recurrent otitis media, Corneal opacity, Lim...	OMIM:253220
Proteasome-Associated Autoinflammatory Syndrome 3	Skin rash, Myositis, Arthritis, Sinusitis, Flexion contracture, Conjunctivitis, Panniculitis	OMIM:617591
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Craniosynostosis, Astigmatism, Metopic synostosis, Corneal opacity, Arthrogryposis multiplex cong...	OMIM:301056
Dyschondrosteosis-Nephritis Syndrome	Madelung deformity, Corneal opacity	ORPHA:1765
Lyme Disease	Infectious encephalitis, Uveitis, Joint swelling, Arthritis	ORPHA:91546
Oculocerebrocutaneous Syndrome	Corneal opacity, Congenital hip dislocation, Iris coloboma, Congenital diaphragmatic hernia	ORPHA:1647
Vexas Syndrome	Inflammatory abnormality of the skin, Nasal chondritis, Arthritis, Arteritis, Neutrophilic infilt...	OMIM:301054
Mucolipidosis Iii Gamma	Joint stiffness, Genu valgum, Opacification of the corneal stroma	OMIM:252605
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant	Skeletal muscle hypertrophy, Osteoarthritis	OMIM:619714
Vitreoretinochoroidopathy	Pulverulent cataract, Microphthalmia, Posterior staphyloma, Developmental cataract, Microcornea	OMIM:193220
Autoimmune Lymphoproliferative Syndrome, Type Iii	Recurrent otitis media, Membranous nephropathy, Arthritis, Recurrent sinusitis	OMIM:615559
Coloboma, Ocular, Autosomal Dominant	Peters anomaly, Corneal opacity, Microphthalmia	OMIM:120200
Oculoauricular Syndrome	Cataract, Iris cyst, Iris coloboma, Microphthalmia, Microphakia, Phthisis bulbi, Posterior synech...	OMIM:612109
Microscopic Polyangiitis	Peritonitis, Skin rash, Pancreatitis, Uveitis, Arthritis, Episcleritis, Sinusitis, Increased infl...	ORPHA:727
Reactive Arthritis	Inflammation of the large intestine, Joint stiffness, Joint swelling, Enthesitis, Recurrent aphth...	ORPHA:29207
Sialidosis Type 1	Cataract, Skeletal muscle atrophy, Corneal opacity	ORPHA:812
Cystinosis	Rickets, Corneal opacity, Myopathy	ORPHA:213
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Corneal opacity	OMIM:618961
Cardiospondylocarpofacial Syndrome	Carpal synostosis, Recurrent otitis media, Joint laxity, Joint hypermobility, Congenital diaphrag...	OMIM:157800
Hunter-Macdonald Syndrome	Camptodactyly, Delayed cranial suture closure, Cubitus valgus, Joint contracture of the hand, Pre...	OMIM:611962
Scleroderma	Myocarditis, Keratitis, Myopathy, Uveitis, Arthritis, Episcleritis, Osteolytic defects of the pha...	ORPHA:801
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Cataract, Ectopia pupillae, Microphthalmia, Sclerocornea, Microcornea, Recurrent patellar disloca...	OMIM:615877
Mixed Connective Tissue Disease	Myocarditis, Osteolysis, Joint swelling, Joint stiffness, Skin rash, Keratoconjunctivitis sicca, ...	ORPHA:809
Congenital Tufting Enteropathy	Cataract, Corneal erosion, Arthritis, Punctate keratitis	ORPHA:92050
Scedosporiosis	Endocarditis, Arthralgia/arthritis, Septic arthritis, Sinusitis, Pneumonia, Osteomyelitis, Perica...	ORPHA:449280
Rheumatic Fever	Myocarditis, Aplasia/Hypoplasia of the abdominal wall musculature, Endocarditis, Arthritis, Sinus...	ORPHA:3099
Loeys-Dietz Syndrome 1	Craniosynostosis, Camptodactyly, Joint laxity, Eosinophilic infiltration of the esophagus, Blue s...	OMIM:609192
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Arthritis, Atrophic gastritis, Bronchiectasis, Psoriasiform dermatitis, Crohn's disease, Eczema	OMIM:616100
Dyggve-Melchior-Clausen Disease	Broad carpal bones, Limited elbow extension, Hypoplastic acetabulae, Corneal opacity, Limited kne...	ORPHA:239
Takayasu Arteritis	Inflammatory abnormality of the eye, Increased inflammatory response, Arthritis	ORPHA:3287
Mucopolysaccharidosis Type 2	Macroglossia, Abnormal epiphyseal ossification, Flexion contracture of digit, Corneal opacity, Li...	ORPHA:580
Wrinkly Skin Syndrome	Congenital hip dislocation, Wormian bones, Osteopenia, Scapular winging, Delayed cranial suture c...	OMIM:278250
Psoriasis 14, Pustular	Cholangitis, Oligoarthritis, Polyarticular arthritis, Psoriasiform dermatitis, Pustule	OMIM:614204
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Blue sclerae	OMIM:616539
Mucopolysaccharidosis Type 4	Reduced bone mineral density, Joint dislocation, Corneal opacity, Joint hyperflexibility, Genu va...	ORPHA:582
Syndromic Recessive X-Linked Ichthyosis	Corneal opacity	ORPHA:281090
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Cataract, Megalocornea, Microphthalmia, Buphthalmos, Congenital contracture, Congenital muscular ...	OMIM:236670
Immunodeficiency, Common Variable, 8, With Autoimmunity	Inflammation of the large intestine, Uveitis, Colitis, Arthritis, Recurrent otitis media, Recurre...	OMIM:614700
Hurler Syndrome	Macroglossia, Joint stiffness, Recurrent otitis media, Corneal opacity, C1-C2 subluxation, Opacif...	OMIM:607014
Overlap Myositis	Perifascicular muscle fiber atrophy, Subluxation of the small joints of the hand, Distal lower li...	ORPHA:206572
Autosomal Dominant Robinow Syndrome	Camptodactyly of finger, Hip dislocation, Elbow dislocation, Blue sclerae	ORPHA:3107
Insulin-Resistance Syndrome Type B	Pneumonia, Nephritis, Osteoarthritis, Skin rash	ORPHA:2298
Peroxisome Biogenesis Disorder 2A (Zellweger)	Cataract, Brushfield spots, Camptodactyly, Stippled chondral calcification, Cubitus valgus, Opaci...	OMIM:214110
Gm1 Gangliosidosis	Macroglossia, Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculature, Aspi...	ORPHA:354
Mucopolysaccharidosis Type 1	Abnormal tendon morphology, Chronic otitis media, Joint stiffness, Joint dislocation, Sinusitis, ...	ORPHA:579
Classical Ehlers-Danlos Syndrome	Hip dislocation, Joint swelling, Generalized joint laxity, Dislocated radial head, Osteoarthritis...	ORPHA:287
Ichthyosis, Congenital, Autosomal Recessive 11	Blepharitis, Corneal opacity	OMIM:602400
Symptomatic Form Of Hfe-Related Hemochromatosis	Joint swelling, Joint stiffness, Stiff interphalangeal joints, Decreased muscle mass, Arthropathy...	ORPHA:465508
Sjogren Syndrome	Keratoconjunctivitis sicca, Tubulointerstitial nephritis, Rheumatoid arthritis	OMIM:270150
Roifman-Chitayat Syndrome	Osteopenia, Pneumonia, Arthritis	OMIM:613328
Immunodeficiency 68	Septic arthritis, Recurrent skin infections, Lymphadenitis	OMIM:612260
Mosaic Trisomy 9	Camptodactyly of finger, Hip dislocation, Microphthalmia, Corneal opacity, Limitation of joint mo...	ORPHA:99776
Bacterial Toxic-Shock Syndrome	Peritonitis, Myocarditis, Glomerulonephritis, Skin rash, Arthritis, Fasciitis, Hepatitis, Septic ...	ORPHA:36234
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Septic arthritis, Recurrent pneumonia, Eczema	OMIM:617780
Zellweger Syndrome	Cataract, Brushfield spots, Corneal opacity, Epiphyseal stippling, Posterior embryotoxon	ORPHA:912
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Cervical subluxation, Arthritis	OMIM:184100
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Wormian bones, Opacification of the corneal stroma	OMIM:601356
Sanjad-Sakati Syndrome	Patchy osteosclerosis, Astigmatism, Corneal opacity, Myopathy	ORPHA:2323
Hutchinson-Gilford Progeria Syndrome	Reduced bone mineral density, Hip dislocation, Osteolytic defects of the distal phalanges of the ...	ORPHA:740
Xp22.3 Microdeletion Syndrome	Opacification of the corneal stroma	ORPHA:1643
Fusariosis	Peritonitis, Keratitis, Maculopapular exanthema, Arthritis, Fasciitis, Sinusitis, Bronchiectasis,...	ORPHA:228119
Roberts-Sc Phocomelia Syndrome	Craniosynostosis, Cataract, Knee flexion contracture, Microphthalmia, Corneal opacity, Ankle flex...	OMIM:268300
Glycogen Storage Disease Vii	Increased muscle glycogen content, Gout, Increased variability in muscle fiber diameter	OMIM:232800
Alpha-Mannosidosis, Infantile Form	Macroglossia, Craniosynostosis, Cataract, Osteolysis, Joint stiffness, Myopathy, Astigmatism, Ost...	ORPHA:309282
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Enteroviral hepatitis, Septic arthritis, Recurrent otitis media, Sinusitis, Infectious encephalit...	OMIM:307200
Mosaic Trisomy 8	Patellar aplasia, Camptodactyly of finger, Corneal opacity, Limitation of joint mobility, Arthrog...	ORPHA:96061
Loeys-Dietz Syndrome 3	Craniosynostosis, Knee osteoarthritis, Camptodactyly, Cataract, Left ventricular hypertrophy, Ost...	OMIM:613795
Mucolipidosis Iii Alpha/Beta	Craniosynostosis, Hyperopic astigmatism, Shallow acetabular fossae, Opacification of the corneal ...	OMIM:252600
Ichthyosis, X-Linked	Opacification of the corneal stroma	OMIM:308100
Loeys-Dietz Syndrome 2	Craniosynostosis, Camptodactyly, Osteoporosis, Protrusio acetabuli, Joint laxity, Eosinophilic in...	OMIM:610168
Reynolds Syndrome	Infectious encephalitis, Keratoconjunctivitis sicca, Arthritis, Skin rash	ORPHA:779
Dysbetalipoproteinemia	Tendon xanthomatosis, Acute pancreatitis, Corneal arcus, Gout	ORPHA:412
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Cholangitis, Chronic sinusitis, Atopic dermatitis, Skin rash, Arthritis, Recurrent otitis media, ...	ORPHA:183675
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Chronic otitis media, Atopic dermatitis, Arthrogryposis multiplex congenita, Joint swelling, Knee...	OMIM:619503
Localized Scleroderma	Hashimoto thyroiditis, Myopathy, Uveitis, Skeletal muscle atrophy, Sclerosis of finger phalanx, A...	ORPHA:90289
Complement Factor I Deficiency	Glomerulonephritis, Pyelonephritis, Septic arthritis, Recurrent otitis media, Recurrent skin infe...	OMIM:610984
Hereditary Xanthinuria	Arthropathy, Gout, Rheumatoid arthritis, Myopathy	ORPHA:3467
Multiple Sulfatase Deficiency	Cataract, Corneal opacity, Joint stiffness	ORPHA:585
Autoimmune Hepatitis	Acute hepatitis, Glomerulonephritis, Inflammation of the large intestine, Viral hepatitis, Fulmin...	ORPHA:2137
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Gout	OMIM:617056
Stromme Syndrome	Cataract, Iris coloboma, Myopathy, Microphthalmia, Sclerocornea, Microcornea, Peters anomaly	OMIM:243605
Achalasia, Familial Esophageal	Keratoconjunctivitis sicca, Rheumatoid arthritis	OMIM:200400
Mucopolysaccharidosis Type 6	Macroglossia, Chronic otitis media, Joint stiffness, Sinusitis, Opacification of the corneal stro...	ORPHA:583
Fish-Eye Disease	Corneal opacity	ORPHA:79292
Schimmelpenning-Feuerstein-Mims Syndrome	Corneal opacity, Hypophosphatemic rickets, Osteopenia, Recurrent fractures	OMIM:163200
Wiedemann-Rautenstrauch Syndrome	Cataract, Camptodactyly of finger, Limb hypertonia, Skeletal muscle hypertrophy, Osteopenia, Recu...	ORPHA:3455
Aortic Aneurysm, Familial Thoracic 12	Arthritis	OMIM:619825
Mucopolysaccharidosis Type 7	Joint stiffness, Corneal opacity, Hepatitis, Epiphyseal stippling	ORPHA:584
Recessive X-Linked Ichthyosis	Opacification of the corneal stroma	ORPHA:461
Familial Dysautonomia	Osteolysis, Corneal erosion, Abnormal pupil morphology, Corneal opacity, Recurrent fractures, Het...	ORPHA:1764
Wiedemann-Rautenstrauch Syndrome	Cataract, Genu varum, Delayed closure of the anterior fontanelle, Pneumonia, Widely patent fontan...	OMIM:264090
Hyperimmunoglobulinemia D With Periodic Fever	Peritonitis, Recurrent aphthous stomatitis, Limitation of joint mobility, Arthritis	ORPHA:343
Osteopetrosis With Renal Tubular Acidosis	Blue sclerae, Osteopetrosis, Recurrent fractures

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