Not currently registered for phenotyping at IMPC

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

Gene Summary


IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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.

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 Similarity of
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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