Arthrogryposis With Hyperkeratosis |
|
Arthrogryposis multiplex congenita |
OMIM:208158 |
Osteoarthritis Susceptibility 3 |
|
Osteoarthritis, Osteoarthritis of the distal interphalangeal joint, Joint stiffness, Osteoarthrit... |
OMIM:607850 |
Chondrocalcinosis 2 |
|
Arthropathy, Polyarticular chondrocalcinosis, Osteoarthritis |
OMIM:118600 |
Kienbock Disease |
|
Osteoarthritis, Limitation of joint mobility, Osteochondritis dissecans, Abnormality of the wrist |
ORPHA:97332 |
Carpal Tunnel Syndrome 1 |
|
Digital flexor tenosynovitis |
OMIM:115430 |
Brachydactylous Dwarfism, Mseleni Type |
|
Osteopenia, Increased inflammatory response, Protrusio acetabuli, Knee osteoarthritis, Limitation... |
ORPHA:2619 |
Angel-Shaped Phalangoepiphyseal Dysplasia |
|
Hip osteoarthritis, Hyperextensibility of the finger joints, Premature osteoarthritis, Delayed os... |
OMIM:105835 |
Familial Calcium Pyrophosphate Deposition |
|
Joint dislocation, Osteoarthritis, Limitation of joint mobility, Arthritis, Joint swelling, Calci... |
ORPHA:1416 |
Chondrocalcinosis 1 |
|
Osteoarthritis, Chondrocalcinosis |
OMIM:600668 |
Osteoarthritis Susceptibility 2 |
|
Osteoarthritis, Heberden's node |
OMIM:140600 |
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
|
Multiple prenatal fractures, Developmental cataract, Decreased calvarial ossification, Blue scler... |
OMIM:259410 |
Developmental Dysplasia Of The Hip 2 |
|
Hip osteoarthritis, Arthritis |
OMIM:615612 |
Brittle Cornea Syndrome 2 |
|
Keratoconus, Flat cornea, Recurrent fractures, Sclerocornea, Keratoglobus, Blue sclerae, Decrease... |
OMIM:614170 |
Laron Syndrome |
|
Abnormal joint morphology, Blue sclerae |
OMIM:262500 |
Myopathic Ehlers-Danlos Syndrome |
|
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... |
ORPHA:536516 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Blue sclerae, Heterochromia iridis |
ORPHA:66633 |
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome |
|
Skeletal muscle atrophy, Blue sclerae, Hip dislocation, Limitation of joint mobility |
ORPHA:2840 |
Osteogenesis Imperfecta, Type V |
|
Osteopenia, Hyperextensibility of the finger joints, Hyperextensibility at elbow, Recurrent fract... |
OMIM:610967 |
Congenital Myopathy 20 |
|
Skeletal muscle atrophy, Scapular winging, Elbow contracture, Centrally nucleated skeletal muscle... |
OMIM:620310 |
Slipped Femoral Capital Epiphyses |
|
Hip osteoarthritis |
OMIM:182260 |
Winchester Syndrome |
|
Arthropathy, Corneal opacity, Osteolysis involving tarsal bones, Carpal osteolysis, Generalized o... |
OMIM:277950 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10 |
|
Scapular winging, Osteoarthritis, Bronchiectasis, Small thenar eminence, Distal lower limb muscle... |
OMIM:620080 |
Osteoarthritis With Mild Chondrodysplasia |
|
Hip osteoarthritis, Knee osteoarthritis, Heberden's node, Joint stiffness |
OMIM:604864 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Corneal dystrophy, Band keratopathy |
OMIM:300779 |
Ehlers-Danlos Syndrome, Hypermobility Type |
|
Joint dislocation, Osteoarthritis, Joint hypermobility, Joint laxity |
OMIM:130020 |
Osteochondrosis Of The Tarsal Bone |
|
Arthritis, Tarsal sclerosis, Tarsal stippling, Chondritis, Abnormal tarsal ossification, Osteocho... |
ORPHA:563991 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive |
|
Hip osteoarthritis, Osteoarthritis |
OMIM:271600 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Joint laxity, Corneal opacity, Osteoporosis, Increased susceptibility to fractures, B... |
ORPHA:2788 |
Grant Syndrome |
|
Wormian bones, Blue sclerae |
OMIM:138930 |
Multiple Epiphyseal Dysplasia Type 1 |
|
Abnormal acetabulum morphology, Joint stiffness, Osteoarthritis, Delayed epiphyseal ossification,... |
ORPHA:93308 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Familial Avascular Necrosis Of Femoral Head |
|
Hip osteoarthritis, Limited hip movement |
ORPHA:86820 |
Osteoarthritis Susceptibility 1 |
|
Hip osteoarthritis |
OMIM:165720 |
Peripheral Dysostosis |
|
Osteoarthritis, Joint stiffness |
ORPHA:1795 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the 2nd finger, De... |
OMIM:130060 |
Epiphyseal Dysplasia, Multiple, 3 |
|
Osteoarthritis, Delayed epiphyseal ossification, Limited elbow extension, Limited knee extension,... |
OMIM:600969 |
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Abnormality of the knee, Abnormality of the epiphyses of the elbow, Osteoarthritis, Genu valgum, ... |
ORPHA:166002 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Microphthalmia, Corneal opacity |
ORPHA:2432 |
Talo-Patello-Scaphoid Osteolysis |
|
Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae |
ORPHA:50809 |
Brittle Cornea Syndrome 1 |
|
Keratoconus, Joint laxity, Congenital hip dislocation, Keratoglobus, Abnormal cornea morphology, ... |
OMIM:229200 |
Desbuquois Syndrome |
|
Genu recurvatum, Camptodactyly of finger, Elbow dislocation, Aplasia/Hypoplasia of the abdominal ... |
ORPHA:1425 |
Osteogenesis Imperfecta, Type Xiv |
|
Osteopenia, Blue sclerae, Recurrent fractures, Increased susceptibility to fractures |
OMIM:615066 |
Parietal Foramina 1 |
|
Wormian bones, Blue sclerae |
OMIM:168500 |
Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... |
ORPHA:566943 |
Beukes Hip Dysplasia |
|
Osteoarthritis, Shallow acetabular fossae |
OMIM:142669 |
Pseudoachondroplasia |
|
Joint laxity, Limited hip extension, Joint stiffness, Irregular carpal bones, Osteoarthritis, Dis... |
ORPHA:750 |
Hip Dysplasia, Beukes Type |
|
Abnormal ossification involving the femoral head and neck, Osteoarthritis, Abnormality of bone mi... |
ORPHA:2114 |
Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Multiple prenatal fractures, Decreased calvarial ossification, Blue sclerae,... |
OMIM:259440 |
Peripheral Dysostosis |
|
Hip osteoarthritis |
OMIM:170700 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Osteoarthritis |
ORPHA:2206 |
Dysspondyloenchondromatosis |
|
Joint dislocation, Enlarged joints, Osteoarthritis, Generalized joint laxity, Genu valgum, Multip... |
ORPHA:85198 |
Glycoprotein Storage Disease |
|
Gout |
OMIM:232900 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Osteoarthritis, Cataract, Joint stiffness |
ORPHA:1345 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2 |
|
Joint dislocation, Blue sclerae, Recurrent fractures, Joint hypermobility |
OMIM:619120 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Blue sclerae, Flexion contracture, Thenar muscle atrophy |
ORPHA:157965 |
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome |
|
Osteoarthritis |
ORPHA:435804 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Cranio-Osteoarthropathy |
|
Abnormality of the knee, Eczema, Joint stiffness, Osteoarthritis, Joint swelling, Arthritis |
ORPHA:1525 |
Paget Disease Of Bone 6 |
|
Left ventricular hypertrophy, Osteoarthritis, Recurrent fractures |
OMIM:616833 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Cataract, Recurrent fractures, Joint hyperflexibility, Decreased calvarial ossification, Blue scl... |
ORPHA:2772 |
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
|
Arthropathy, Generalized morning stiffness, Arthritis, Wrist flexion contracture, Congenital fing... |
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 |
|
Hip osteoarthritis, Premature osteoarthritis, Osteochondritis dissecans |
OMIM:165800 |
Osteogenesis Imperfecta, Type Xv |
|
Bowing of limbs due to multiple fractures, Blue sclerae, Recurrent fractures, Joint hypermobility |
OMIM:615220 |
Mevalonic Aciduria |
|
Blue sclerae, Cataract |
ORPHA:29 |
Grubben-De Cock-Borghgraef Syndrome |
|
Blue sclerae, Eczema |
ORPHA:2101 |
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals |
|
Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis |
OMIM:609655 |
Grant Syndrome |
|
Joint dislocation, Joint hyperflexibility, Blue sclerae, Wormian bones, Decreased skull ossification |
ORPHA:2097 |
Alkaptonuria |
|
Joint dislocation, Joint stiffness, Cartilage destruction, Osteoarthritis, Reduced bone mineral d... |
ORPHA:56 |
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Hip osteoarthritis |
OMIM:619248 |
Progressive Osseous Heteroplasia |
|
Osteoarthritis, Limitation of joint mobility, Ectopic ossification in muscle tissue |
ORPHA:2762 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Osteoarthritis |
ORPHA:93283 |
Epiphyseal Dysplasia, Multiple, 6 |
|
Abnormality of the knee, Osteoarthritis |
OMIM:614135 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Joint dislocation, Hyperextensibility of the finger joints, Hyperextensibility of the knee, Ectop... |
OMIM:130000 |
Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
|
Osteopenia, Joint hyperflexibility, Blue sclerae, Recurrent fractures |
ORPHA:2324 |
Osteochondrosis Of The Metatarsal Bone |
|
Sclerosis of foot bone, Joint stiffness, Arthritis, Progressive joint destruction, Chondritis, Os... |
ORPHA:564003 |
Osteogenesis Imperfecta, Type Xix |
|
Osteopenia, Recurrent fractures, Multiple prenatal fractures, Blue sclerae, Joint hypermobility |
OMIM:301014 |
Laron Syndrome |
|
Osteoarthritis, Blue sclerae, Abnormality of the elbow |
ORPHA:633 |
Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Arthritis, Nephritis |
OMIM:216950 |
Pseudodiastrophic Dysplasia |
|
Elbow dislocation, Blue sclerae, Phalangeal dislocation, Camptodactyly |
OMIM:264180 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Facial palsy, Mandibular osteomyelitis, Fractures of the long bones, General... |
OMIM:166600 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Hip contracture, Abnormality of the knee, Protrusio acetabuli, Limited hip movement, Hip osteoart... |
ORPHA:99642 |
Leukodystrophy, Hypomyelinating, 25 |
|
Blue sclerae |
OMIM:620243 |
Progressive Pseudorheumatoid Dysplasia |
|
Arthropathy, Enlarged interphalangeal joints, Camptodactyly of finger, Joint stiffness, Osteoarth... |
OMIM:208230 |
Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Hip osteoarthritis, Joint hyperflexibility |
ORPHA:63442 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae |
|
Blue sclerae |
OMIM:617051 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Joint stiffness, Delayed epiphyseal ossification, Generalized joint laxity, Limited hip movement,... |
OMIM:132400 |
Microphthalmia, Isolated 6 |
|
Microcornea, Microphthalmia, Scleral thickening |
OMIM:613517 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:3177 |
Eng-Strom Syndrome |
|
Arthritis, Camptodactyly of finger |
ORPHA:1937 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Recurrent joint dislocation, Recurrent fractures, Reduced bone mineral density, Blue sclerae, Joi... |
OMIM:619115 |
Spondylosis, Cervical |
|
Osteoarthritis |
OMIM:184300 |
Dysplasia Epiphysealis Hemimelica |
|
Recurrent fractures, Tarsal synostosis, Joint stiffness, Osteoarthritis, Genu valgum, Genu varum |
ORPHA:1822 |
Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth... |
OMIM:217300 |
Albers-Schönberg Osteopetrosis |
|
Joint dislocation, Osteomyelitis, Recurrent fractures, Facial palsy, Mandibular osteomyelitis, Ge... |
ORPHA:53 |
Hemophilia A |
|
Osteoarthritis, Joint hemorrhage, Muscle hemorrhage |
OMIM:306700 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Premature osteoarthritis, Delayed ossification of carpal bones, Delayed tarsal ossification, Genu... |
OMIM:607078 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Buphthalmos, Microcornea, Anterior synechiae of the ante... |
OMIM:269400 |
Hypochondroplasia |
|
Joint hyperflexibility, Osteoarthritis, Abnormality of the elbow, Genu varum |
ORPHA:429 |
Silver-Russell Syndrome 2 |
|
Blue sclerae, Delayed closure of the anterior fontanelle |
OMIM:618905 |
Stickler Syndrome Type 1 |
|
Joint hyperflexibility, Osteoarthritis, Cataract |
ORPHA:90653 |
Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... |
ORPHA:98964 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Osteoarthritis |
ORPHA:66630 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Cataract, Abnormal acetabulum morphology, Joint stiffness, Osteoarthritis, Limitation of joint mo... |
ORPHA:166011 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Ankle swelling, Joint stiffness, Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Flexion cont... |
ORPHA:85408 |
Dracunculiasis |
|
Recurrent cutaneous abscess formation, Skin rash, Flexion contracture, Limitation of joint mobili... |
ORPHA:231 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Joint laxity, Persistent open anterior fontanelle, Facial hypotonia, Blue sclerae, Camptodactyly |
OMIM:615539 |
Congenital Atransferrinemia |
|
Arthritis |
ORPHA:1195 |
Hemochromatosis, Type 4 |
|
Osteoarthritis, Cataract |
OMIM:606069 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Osteopenia, Joint laxity, Camptodactyly of finger, Thenar muscle atrophy, Blue sclerae, Joint con... |
OMIM:612350 |
Diastrophic Dysplasia |
|
Joint dislocation, Increased bone mineral density, Camptodactyly of finger, Joint stiffness, Elbo... |
ORPHA:628 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Joint dislocation, Osteopenia, Decreased muscle mass, Distal joint laxity, Generalized joint laxi... |
ORPHA:1900 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Abnormal joint morphology, Osteoarthritis, Abnormal carpal morphology, Osteoporosis, Limitation o... |
ORPHA:93351 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Osteoarthritis, Delayed epiphyseal ossification |
OMIM:618618 |
Neurodevelopmental Disorder With Absent Language And Variable Seizures |
|
Joint hyperflexibility, Blue sclerae, Genu recurvatum |
OMIM:618707 |
Thiel-Behnke Corneal Dystrophy |
|
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... |
ORPHA:98960 |
Epiphyseal Dysplasia, Multiple, 2 |
|
Flattened knee epiphyses, Knee osteoarthritis, Osteochondritis dissecans, Genu varum |
OMIM:600204 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Premature osteoarthritis |
OMIM:184840 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Cataract, Joint hypermobility, Band keratopathy, Knee osteoarthritis, Oligoarthritis, Uveitis, Ab... |
ORPHA:85410 |
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Osteoarthritis |
ORPHA:166100 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Microphthalmia, Isolated 2 |
|
Microphthalmia, Opacification of the corneal stroma |
OMIM:610093 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Persistent open anterior fontanelle, Congenital hip dislocation, Corneal opacity, Joint hypermobi... |
ORPHA:357058 |
Phakomatosis Pigmentovascularis |
|
Blue sclerae, Reduced bone mineral density |
ORPHA:2875 |
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome |
|
EMG: myopathic abnormalities, Blue sclerae |
ORPHA:457365 |
Galactosialidosis |
|
Corneal opacity |
ORPHA:351 |
Osteogenesis Imperfecta, Type Iii |
|
Recurrent fractures, Protrusio acetabuli, Severe generalized osteoporosis, Multiple prenatal frac... |
OMIM:259420 |
Ophthalmomandibulomelic Dysplasia |
|
Corneal opacity, Camptodactyly of finger, Elbow dislocation, Limitation of joint mobility, Radiou... |
ORPHA:2741 |
Ulnar Hemimelia |
|
Limited elbow movement, Osteoarthritis, Humeroradial synostosis, Elbow flexion contracture, Antec... |
ORPHA:93320 |
Osteogenesis Imperfecta, Type Xi |
|
Osteopenia, Joint laxity, Protrusio acetabuli, Recurrent fractures, Increased susceptibility to f... |
OMIM:610968 |
Brittle Cornea Syndrome |
|
Corneal dystrophy, Corneal erosion, Osteoporosis, Corneal scarring, Increased susceptibility to f... |
ORPHA:90354 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Osteopenia, Corneal opacity, Ankle swelling, Congenital diaphragmatic hernia, Wrist swelling, Ost... |
OMIM:166300 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Increased inflammatory response, Pericarditis, Camptodactyly of finger, Wrist swelling, Polyartic... |
ORPHA:2848 |
Dermatoosteolysis, Kirghizian Type |
|
Tarsal synostosis, Keratitis, Osteoarthritis, Osteolysis, Abnormality of the wrist |
ORPHA:1657 |
Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Wormian bones, Blue sclerae |
OMIM:619638 |
Cataract 21, Multiple Types |
|
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... |
OMIM:610202 |
Multiple Epiphyseal Dysplasia Type 5 |
|
Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Decreased hip abd... |
ORPHA:93311 |
Pontocerebellar Hypoplasia, Type 1F |
|
Blue sclerae |
OMIM:619304 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Recurrent fractures, Joint hypermobility, Blue sclerae, Wormian bones, Generalized ... |
OMIM:617952 |
Dentinogenesis Imperfecta |
|
Blue sclerae, Finger joint hypermobility, Hyperextensibility at elbow, Knee joint hypermobility, ... |
ORPHA:49042 |
Osteogenesis Imperfecta, Type Xiii |
|
Skeletal muscle atrophy, Increased bone mineral density, Recurrent fractures, Osteoporosis, Reduc... |
OMIM:614856 |
Lowry-Maclean Syndrome |
|
Osteopenia, Corneal opacity, Craniosynostosis, Congenital diaphragmatic hernia, Developmental gla... |
ORPHA:2409 |
Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Arthropathy, Osteomyelitis, Recurrent fractures, Osteoarthritis, Painless fractures due to injury... |
OMIM:608654 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Osteopenia, Cataract, Developmental glaucoma, Flexion contracture, Elbow flexion contracture, Hip... |
OMIM:614438 |
White Forelock With Malformations |
|
Joint hyperflexibility, Blue sclerae |
ORPHA:2475 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Cataract, Corneal opacity, Microphthalmia, Posterior embryotoxon, Iris coloboma |
ORPHA:1473 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Capitate-hamate fusion, Osteoarthritis, Limited elbow extension, Genu valgum |
OMIM:271650 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Acne, Elbow flexion contracture, Sterile arthritis, Knee flexion contracture, Arthritis, Colitis,... |
OMIM:604416 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Arthritis, Conjunctivitis |
OMIM:617772 |
Idiopathic Uveal Effusion Syndrome |
|
Abnormal sclera morphology, Abnormal anterior eye segment morphology, Scleral thickening, Superfi... |
ORPHA:209956 |
Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Knee osteoarthritis, Oligoarthritis, Abnormality of the elbow, Enthesitis, Arth... |
ORPHA:85438 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Osteogenesis Imperfecta, Type Iv |
|
Recurrent fractures, Reduced bone mineral density, Increased susceptibility to fractures, Blue sc... |
OMIM:166220 |
Hemophilia B |
|
Osteoarthritis, Joint hemorrhage |
OMIM:306900 |
Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
Mucopolysaccharidosis, Type Ix |
|
Acetabular erosions, Periarticular soft-tissue mass, Synovitis, Hyperextensibility at wrists, Rec... |
OMIM:601492 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Proximal radio-ulnar synostosis, Tarsal synostosis, Abnormally large globe, Abnormal lens morphol... |
ORPHA:363417 |
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia |
|
Blue sclerae, Cataract |
OMIM:619286 |
Vernal Keratoconjunctivitis |
|
Abnormal sclera morphology, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate... |
ORPHA:70476 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Sacroiliac arthritis, Infl... |
OMIM:106300 |
Spondyloepiphyseal Dysplasia Tarda |
|
Increased inflammatory response, Increased bone mineral density, Osteoarthritis of the distal int... |
ORPHA:93284 |
Cole-Carpenter Syndrome 2 |
|
Osteopenia, Wide cranial sutures, Recurrent fractures, Blue sclerae, Lambdoidal craniosynostosis,... |
OMIM:616294 |
Mucolipidosis Type Iii |
|
Joint stiffness, Corneal opacity, Acne, Reduced bone mineral density |
ORPHA:577 |
Osteogenesis Imperfecta, Type Ii |
|
Recurrent fractures, Multiple prenatal fractures, Absent ossification of calvaria, Blue sclerae, ... |
OMIM:166210 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Joint laxity, Blue sclerae, Axenfeld anomaly, Opacification of the corneal stroma, Peters anomaly... |
OMIM:612582 |
Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Carpal synostosis, Radioulnar synostosis, Blue sclerae, Tarsal synostosis |
OMIM:605282 |
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Osteopenia, Symmetric polyarthritis, Limitation of joint mobility, Synovitis, Reduced bone minera... |
ORPHA:85435 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Developmental And Epileptic Encephalopathy 28 |
|
Blue sclerae |
OMIM:616211 |
Anterior Segment Dysgenesis 5 |
|
Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri... |
OMIM:604229 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Recurrent fractures, Craniosynostosis, Abnormally large globe, Joint hypermobility, C... |
OMIM:245600 |
Hereditary Methemoglobinemia |
|
Blue sclerae |
ORPHA:621 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Blue sclerae, Eczema, Patellar hypoplasia |
ORPHA:464288 |
Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity |
ORPHA:1980 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Osteopenia, Decreased muscle mass, Congenital hip dislocation, Blue sclerae, Wormian bones, Joint... |
OMIM:612940 |
Osteogenesis Imperfecta, Type I |
|
Osteopenia, Recurrent fractures, Increased susceptibility to fractures, Blue sclerae, Finger join... |
OMIM:166200 |
Desbuquois Dysplasia 1 |
|
Joint dislocation, Joint laxity, Phalangeal dislocation, Developmental glaucoma, Osteoarthritis, ... |
OMIM:251450 |
Macular Dystrophy, Corneal |
|
Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions |
OMIM:217800 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Flexion contracture, Corneal opacity, Developmental cataract |
OMIM:618815 |
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
Blue sclerae |
ORPHA:231137 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Joint laxity, Radial head subluxation, Multiple joint dislocation, Genu varum, Premature osteoart... |
ORPHA:93360 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Osteopenia, Joint laxity, Hip dislocation, Advanced ossification of carpal bones, Increased susce... |
OMIM:615349 |
Marshall-Smith Syndrome |
|
Craniosynostosis, Increased susceptibility to fractures, Reduced bone mineral density, Joint hype... |
ORPHA:561 |
Osteogenesis Imperfecta, Type Xvi |
|
Osteopenia, Recurrent fractures, Decreased calvarial ossification, Blue sclerae, Wormian bones, J... |
OMIM:616229 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Corneal opacity, Reduced bone mineral density |
ORPHA:2370 |
Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:608470 |
Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Bilateral microphthalmos, Microcornea, H... |
ORPHA:2334 |
Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:271310 |
Blau Syndrome |
|
Nongranulomatous uveitis, Pericarditis, Cataract, Camptodactyly of finger, Eczema, Band keratopat... |
OMIM:186580 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Scapular winging, Blue sclerae, Joint hypermobility |
OMIM:619122 |
Stickler Syndrome, Type I |
|
Arthropathy, Cataract, Joint stiffness, Osteoarthritis, Arthritis, Joint hypermobility |
OMIM:108300 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Blue sclerae, Flexion contracture, Delayed cranial suture closure |
OMIM:619383 |
Hypophosphatasia, Infantile |
|
Craniosynostosis, Increased susceptibility to fractures, Decreased calvarial ossification, Blue s... |
OMIM:241500 |
Multicentric Reticulohistiocytosis |
|
Arthritis |
ORPHA:139436 |
Braddock Syndrome |
|
Congenital muscular torticollis, Blue sclerae |
ORPHA:52047 |
Pseudoachondroplasia |
|
Joint laxity, Ulnar deviation of the wrist, Genu recurvatum, Limited hip extension, Irregular car... |
OMIM:177170 |
Silver-Russell Syndrome 1 |
|
Blue sclerae, Delayed cranial suture closure |
OMIM:180860 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
Melorheostosis |
|
Skeletal muscle atrophy, Increased bone mineral density, Joint stiffness, Arthritis, Ectopic ossi... |
ORPHA:2485 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Blue sclerae, Joint hypermobility |
OMIM:617101 |
Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia,... |
ORPHA:83461 |
Microphthalmia, Isolated 5 |
|
Microphthalmia, Cataract, Scleral thickening |
OMIM:611040 |
Otospondylomegaepiphyseal Dysplasia |
|
Abnormally ossified vertebrae, Cataract, Enlarged joints, Abnormal joint morphology, Osteoarthrit... |
ORPHA:1427 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Hip osteoarthritis, Limitation of joint mobility, Opacification of the corneal stroma |
OMIM:313400 |
Morgagni-Stewart-Morel Syndrome |
|
Osteoarthritis, Osteoporosis, Acne |
ORPHA:77296 |
X-Linked Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy |
ORPHA:293621 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal stromal edema, Corneal opacity, Corneal guttata |
OMIM:613267 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
Alpha-Mannosidosis |
|
Cataract, Corneal opacity, Macroglossia, Arthritis, Chronic otitis media, Synostosis of joints |
ORPHA:61 |
Bullous Impetigo |
|
Pustule, Septic arthritis, Recurrent bacterial skin infections |
ORPHA:36237 |
Wild Type Abeta2M Amyloidosis |
|
Arthropathy, Abnormal tendon morphology, Arthritis, Macroglossia, Abnormality of the thenar eminence |
ORPHA:85446 |
Ehlers-Danlos Syndrome, Periodontal Type, 1 |
|
Joint dislocation, Joint laxity, Generalized joint laxity, Blue sclerae, Periodontitis |
OMIM:130080 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Microphthalmia, Blue sclerae, Camptodactyly of finger, Iris coloboma |
ORPHA:1236 |
Cole-Carpenter Syndrome |
|
Wormian bones, Joint hyperflexibility, Blue sclerae, Recurrent fractures |
ORPHA:2050 |
Amoebic Keratitis |
|
Iris atrophy, Anterior uveitis, Cataract, Abnormal corneal epithelium morphology, Abnormal anteri... |
ORPHA:67043 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Osteoarthritis, Generalized joint laxity, Hip dislocation, Osteoporosis, Knee disloca... |
OMIM:618000 |
Sialidosis Type 2 |
|
Skeletal muscle atrophy, Flexion contracture, Corneal opacity, Osteoporosis |
ORPHA:87876 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Arthritis, Limitation of joint mobility |
ORPHA:2582 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Osteoporosis, Gout |
OMIM:610947 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Recurrent joint dislocation, Decreased muscle mass, Recurrent skin infections, Craniosynostosis, ... |
ORPHA:2953 |
Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
Idiopathic Camptocormia |
|
Myositis, Fatty replacement of skeletal muscle, Osteoarthritis, Abnormal muscle fiber dysferlin, ... |
ORPHA:1320 |
Desbuquois Dysplasia 2 |
|
Joint laxity, Radial head subluxation, Hip dislocation, Advanced ossification of carpal bones, Fl... |
OMIM:615777 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Arthritis, Conjunctivitis, Otitis media |
OMIM:601457 |
Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... |
ORPHA:171673 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Joint laxity, Blue sclerae |
ORPHA:391408 |
Corneal Dystrophy And Perceptive Deafness |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:217400 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Cataract, Posterior staphyloma |
OMIM:619082 |
Bartsocas-Papas Syndrome 2 |
|
Corneal opacity, Antecubital pterygium, Popliteal pterygium, Microphthalmia, Axillary pterygium |
OMIM:619339 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Blue sclerae |
OMIM:616817 |
Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity |
ORPHA:90654 |
Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma |
OMIM:148200 |
Gómez-López-Hernández Syndrome |
|
Corneal opacity |
ORPHA:1532 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Joint dislocation, Osteopenia, Multiple joint contractures, Generalized joint laxity, Flexion con... |
ORPHA:536471 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Phthisis bulbi, Leukocoria, Uveitis, Buphthalmos, Microcornea, Shallow... |
OMIM:221900 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Scapular winging, Blue sclerae, Conjunctivitis |
OMIM:615560 |
Incontinentia Pigmenti |
|
Cataract, Corneal opacity, Camptodactyly of finger, Skin rash, Keratitis, Osteolysis, Uveitis, Bl... |
ORPHA:464 |
Papa Syndrome |
|
Increased inflammatory response, Myositis, Acne, Pustule, Limitation of joint mobility, Arthritis... |
ORPHA:69126 |
Alkaptonuria |
|
Arthropathy, Vertebral fusion, Pigmentation of the sclera, Limited shoulder movement, Arthritis, ... |
OMIM:203500 |
De Barsy Syndrome |
|
Osteopenia, Decreased muscle mass, Congenital hip dislocation, Corneal opacity, Cataract, Delayed... |
ORPHA:2962 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... |
ORPHA:293603 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Skin rash, Glomerulonephritis, Synovitis, Arthritis, Serositis |
ORPHA:567544 |
Melioidosis |
|
Foot osteomyelitis, Pneumonia, Osteoarthritis, Hepatitis, Acute infectious pneumonia, Septic arth... |
ORPHA:31202 |
Mietens Syndrome |
|
Cataract, Corneal opacity, Sclerocornea, Joint stiffness, Elbow dislocation, Hip dislocation, Mic... |
ORPHA:2557 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cataract, Corneal opacity, Muscular dystrophy, Left ventricular hypertrophy, Microphthalmia |
OMIM:613153 |
Loeys-Dietz Syndrome 5 |
|
Decreased muscle mass, Scapular winging, Eosinophilic infiltration of the esophagus, Osteoarthrit... |
OMIM:615582 |
Opsismodysplasia |
|
Abnormally ossified vertebrae, Blue sclerae, Joint stiffness |
ORPHA:2746 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Arthritis |
OMIM:613217 |
Saul-Wilson Syndrome |
|
Blue sclerae, Madelung deformity, Cataract |
OMIM:618150 |
Wiedemann-Steiner Syndrome |
|
Joint laxity, Contracture of the distal interphalangeal joint of the fingers, Blue sclerae, Recur... |
OMIM:605130 |
Al-Gazali Syndrome |
|
Proximal radio-ulnar synostosis, Osteopenia, Corneal opacity, Recurrent fractures, Sclerocornea, ... |
OMIM:609465 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Skeletal muscle atrophy, Type 2 muscle fiber predominance, Myopathy, Blue sclerae, Hypophosphatem... |
OMIM:619743 |
Pycnodysostosis |
|
Joint laxity, Persistent open anterior fontanelle, Increased bone mineral density, Generalized os... |
ORPHA:763 |
Granular Corneal Dystrophy Type Ii |
|
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... |
ORPHA:98963 |
Psoriasis 1, Susceptibility To |
|
Arthritis, Psoriasiform dermatitis |
OMIM:177900 |
Sydenham Chorea |
|
Septic arthritis, Endocarditis |
ORPHA:306731 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Torticollis, Multiple joint contractures, Phalangeal dislocation, Large joint disloca... |
ORPHA:536467 |
Immunodeficiency 61 |
|
Recurrent otitis media, Arthritis, Recurrent sinusitis |
OMIM:300310 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Premature osteoarthritis, Enlarged joints, Flexion contracture, Recurrent pneumonia |
OMIM:215150 |
Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
Congenital Rubella Syndrome |
|
Cataract, Corneal opacity, Skin rash, Aplasia/Hypoplasia of the iris, Microphthalmia |
ORPHA:290 |
Roberts Syndrome |
|
Cataract, Progressive flexion contractures, Craniosynostosis, Patellar aplasia, Knee flexion cont... |
ORPHA:3103 |
Osteogenesis Imperfecta, Type Xx |
|
Wormian bones, Blue sclerae, Multiple prenatal fractures |
OMIM:618644 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Osteoarthritis, Limited elbow extension, Genu varum |
OMIM:602111 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Sclerocornea |
OMIM:611038 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Dislocation of the femoral head, Joint stiffness, Premature osteoarthritis, Elbow flexion contrac... |
ORPHA:93307 |
Zika Virus Disease |
|
Maculopapular exanthema, Ankle swelling, Skin rash, Wrist swelling, Arthritis, Conjunctivitis, Le... |
ORPHA:448237 |
Sjogren-Larsson Syndrome |
|
Astigmatism, Flexion contracture, Opacification of the corneal epithelium |
OMIM:270200 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Osteopenia, Joint laxity, Delayed closure of the anterior fontanelle, Blue sclerae, Recurrent man... |
OMIM:225410 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Keratoconus, Joint dislocation, Osteopenia, Congenital hip dislocation, Joint laxity, Protrusio a... |
OMIM:225400 |
Mevalonic Aciduria |
|
Cataract, Skin rash, Nuclear cataract, Blue sclerae, Morbilliform rash |
OMIM:610377 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Osteomalacia, Osteoarthritis, Rickets, Genu valgum, Hypophosphatemic rickets |
OMIM:307800 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Cataract, Corneal opacity, Myopic astigmatism, Microcornea, Astigmatism, Microphthalmia |
OMIM:152950 |
Dermochondrocorneal Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract, Joint subluxation... |
OMIM:221800 |
Farber Lipogranulomatosis |
|
Osteolysis involving bones of the feet, Hyperextensibility of the finger joints, Ulnar deviation ... |
OMIM:228000 |
Erythrokeratodermia Variabilis |
|
Skin rash, Cataract, Corneal opacity |
ORPHA:317 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Joint dislocation, Osteopenia, Joint laxity, Genu recurvatum, Phalangeal dislocation, Craniosynos... |
OMIM:130070 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Joint laxity, Hip contracture, Knee flexion contracture, Developmental cataract, Congenital bilat... |
ORPHA:488642 |
Norrie Disease |
|
Cataract, Corneal opacity, Leukocoria, Buphthalmos, Hypoplasia of the iris, Shallow anterior cham... |
OMIM:310600 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Blue sclerae |
OMIM:620250 |
Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol... |
ORPHA:98973 |
Hallermann-Streiff Syndrome |
|
Cataract, Tracheomalacia, Recurrent pneumonia, Blue sclerae, Decreased number of sternal ossifica... |
OMIM:234100 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Joint laxity, Generalized joint laxity, Recurrent pneumonia, Genu valgum, Decreased c... |
OMIM:613848 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Abnormal acetabulum morphology, Limb joint contracture, Abnormal enchondral ossification, Delayed... |
ORPHA:93314 |
8P Inverted Duplication/Deletion Syndrome |
|
Contractures of the large joints, Small hypothenar eminence, Blue sclerae, Hip dislocation |
ORPHA:96092 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
Goldberg-Shprintzen Syndrome |
|
Corneal erosion, Blue sclerae, Megalocornea, Corneal ulceration, Limb hypertonia |
OMIM:609460 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Fatty replacement of skeletal muscle, Arthritis, Myopathy, Increased variability in muscle fiber ... |
ORPHA:397744 |
C1Q Deficiency 2 |
|
Chilblains, Discoid lupus rash, Bronchiectasis, Arthritis, Recurrent otitis media, Malar rash |
OMIM:620321 |
Nail-Patella Syndrome |
|
Decreased muscle mass, Flexion contracture, Patellar hypoplasia, Knee flexion contracture, Reduce... |
ORPHA:2614 |
Silver-Russell Syndrome |
|
Decreased muscle mass, Blue sclerae, Delayed cranial suture closure |
ORPHA:813 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Tubulointerstitial nephritis, Blue sclerae, Genu valgum |
ORPHA:488627 |
Epithelial Recurrent Erosion Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... |
ORPHA:293381 |
Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Blue sclerae |
OMIM:617412 |
Marshall Syndrome |
|
Osteoarthritis, Cataract, Genu valgum, Ectopia lentis |
ORPHA:560 |
Fuchs Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... |
ORPHA:98974 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Joint laxity, Ectopia lentis, Radial head subluxation, Flexion contracture, Hip dislocation, Adva... |
OMIM:271640 |
Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... |
ORPHA:98962 |
Mucolipidosis Iv |
|
Corneal opacity, Opacification of the corneal stroma |
OMIM:252650 |
Felty Syndrome |
|
Episcleritis, Pericarditis, Sinusitis, Abnormal joint morphology, Limitation of joint mobility, R... |
ORPHA:47612 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Osteopenia, Skeletal muscle atrophy, Congenital hip dislocation, Dislocated wrist, Hip dislocatio... |
ORPHA:536545 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Arthritis, Otitis media, ... |
ORPHA:229717 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Hip contracture, Peripheral opacification of the cornea, Wide cranial sutures, Cornea... |
OMIM:259600 |
Trichorhinophalangeal Syndrome, Type I |
|
Osteopenia, Scapular winging, Osteoarthritis, Ivory epiphyses of the distal phalanges of the hand |
OMIM:190350 |
Neonatal Marfan Syndrome |
|
Iridodonesis, Ectopia lentis, Flexion contracture, Blue sclerae, Megalocornea, Joint hypermobility |
ORPHA:284979 |
Hurler-Scheie Syndrome |
|
Rhinitis, Limitation of joint mobility, Corneal opacity |
ORPHA:93476 |
Kabuki Syndrome 2 |
|
Joint laxity, Blue sclerae, Hip dislocation, Recurrent otitis media |
OMIM:300867 |
Osteogenesis Imperfecta, Type Xii |
|
Hyperextensibility of the finger joints, Abnormal sclera morphology, Recurrent fractures, Osteopo... |
OMIM:613849 |
Muckle-Wells Syndrome |
|
Episcleritis, Skin rash, Camptodactyly of finger, Uveitis, Arthritis, Conjunctivitis, Recurrent a... |
ORPHA:575 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Osteopenia, Skeletal muscle atrophy, Microcornea, Myopathy, Blue sclerae, Type 1 muscle fiber pre... |
OMIM:614557 |
Scheie Syndrome |
|
Corneal opacity, Genu valgum |
OMIM:607016 |
Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
Macular Corneal Dystrophy |
|
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... |
ORPHA:98969 |
Autosomal Agammaglobulinemia |
|
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepatitis, Arthri... |
ORPHA:33110 |
Systemic Lupus Erythematosus, Susceptibility To, 6 |
|
Arthritis, Pericarditis, Malar rash |
OMIM:609939 |
Congenital Disorder Of Glycosylation, Type It |
|
Rhabdomyolysis, Hepatitis, Chronic hepatitis, Blue sclerae, Recurrent otitis media |
OMIM:614921 |
Vertical Talus, Congenital |
|
Arthritis |
OMIM:192950 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Joint dislocation, Joint laxity, Recurrent skin infections, Diastasis recti, Generalized joint la... |
OMIM:601776 |
Eosinophilic Fasciitis |
|
Arthritis, Myositis, Muscular edema, Fasciitis |
ORPHA:3165 |
Harel-Yoon Syndrome |
|
Distal amyotrophy, Corneal opacity, Developmental cataract |
OMIM:617183 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Erythema nodosum, Arthritis, Skin rash, Recurrent aphthous stomatitis |
OMIM:611762 |
Corneal Dystrophy, Meesmann, 1 |
|
Punctate opacification of the cornea, Corneal dystrophy |
OMIM:122100 |
Gaucher Disease Type 1 |
|
Osteopenia, Increased bone mineral density, Osteoarthritis, Osteolysis, Pathologic fracture |
ORPHA:77259 |
Familial Cold Autoinflammatory Syndrome 1 |
|
Skin rash, Arthritis, Conjunctivitis, Uveitis |
OMIM:120100 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Genu varum |
ORPHA:93356 |
Gm1-Gangliosidosis, Type Iii |
|
Hypoplastic acetabulae, Skeletal muscle atrophy, Opacification of the corneal stroma |
OMIM:230650 |
Frontometaphyseal Dysplasia 2 |
|
Hip contracture, Decreased muscle mass, Congenital hip dislocation, Elbow contracture, Ulcerative... |
OMIM:617137 |
Ophthalmomandibulomelic Dysplasia |
|
Elbow dislocation, Decreased mobility 3rd-5th fingers, Megalocornea, Opacification of the corneal... |
OMIM:164900 |
Osteootohepatoenteric Syndrome |
|
Blue sclerae, Recurrent fractures, Reduced bone mineral density |
OMIM:619377 |
Autosomal Dominant Spastic Paraplegia Type 36 |
|
Arthritis |
ORPHA:320365 |
Wilson Disease |
|
Acute hepatitis, Hepatitis, Proximal muscle weakness in lower limbs, Kayser-Fleischer ring, Joint... |
ORPHA:905 |
Pseudoxanthoma Elasticum |
|
Skin rash, Joint hyperflexibility, Blue sclerae, Acne |
ORPHA:758 |
Rat-Bite Fever |
|
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... |
ORPHA:31205 |
Periodic Fever, Familial, Autosomal Dominant |
|
Myositis, Maculopapular exanthema, Skin rash, Oligoarthritis, Polyarticular arthritis, Conjunctiv... |
OMIM:142680 |
Olmsted Syndrome 1 |
|
Flexion contracture, Corneal opacity, Opacification of the corneal stroma |
OMIM:614594 |
Loeys-Dietz Syndrome 6 |
|
Hip osteoarthritis, Knee osteoarthritis, Intervertebral disc degeneration |
OMIM:619656 |
8Q21.11 Microdeletion Syndrome |
|
Cataract, Corneal opacity, Camptodactyly of finger, Sclerocornea, Eczema, Microphthalmia, Iris hy... |
ORPHA:284160 |
Farber Disease |
|
Abnormality of the knee, Skeletal muscle atrophy, Corneal opacity, Abnormality of the elbow, Flex... |
ORPHA:333 |
Pelvis-Shoulder Dysplasia |
|
Congenital hip dislocation, Opacification of the corneal stroma, Hypoplastic acetabulae, Micropht... |
OMIM:169550 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Osteomyelitis, Psoriasiform dermatitis, Acne, Skin rash, Abnormal sacroiliac joint morphology, Cr... |
ORPHA:324964 |
Cutis Laxa, Autosomal Dominant 3 |
|
Osteopenia, Joint laxity, Corneal opacity, Hip dislocation, Developmental cataract, Wormian bones... |
OMIM:616603 |
Activated Pi3K-Delta Syndrome |
|
Pneumonia, Bronchiectasis, Arthritis, Recurrent otitis media, Chronic sinusitis |
ORPHA:397596 |
Persistent Hyperplastic Primary Vitreous |
|
Cataract, Corneal opacity, Phthisis bulbi, Leukocoria, Developmental cataract, Buphthalmos, Micro... |
ORPHA:91495 |
Systemic Lupus Erythematosus |
|
Pericarditis, Lupus nephritis, Arthritis, Malar rash, Nephritis |
OMIM:152700 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Cataract, Corneal opacity, Abnormality of cartilage of external ear, Bilateral microphthalmos, Mi... |
ORPHA:2399 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Joint laxity, Delayed epiphyseal ossification, Premature osteoarthritis, Generalized bone deminer... |
ORPHA:93352 |
Mucolipidosis Type Iv |
|
Genu recurvatum, Aplasia/Hypoplasia of the abdominal wall musculature, Corneal opacity |
ORPHA:578 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca, Microphthalmia |
ORPHA:1806 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Arthritis, Crescentic glomerulonephritis |
OMIM:616414 |
Schnitzler Syndrome |
|
Arthritis, Increased bone mineral density, Skin rash |
ORPHA:37748 |
Marfan Syndrome |
|
Decreased muscle mass, Cataract, Genu recurvatum, Protrusio acetabuli, Ectopia lentis, Microspher... |
OMIM:154700 |
Pfapa Syndrome |
|
Arthritis, Infectious encephalitis |
ORPHA:42642 |
Atopic Keratoconjunctivitis |
|
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Blepharitis, Corneal neovascula... |
ORPHA:163934 |
Wilson Disease |
|
Osteomalacia, Joint hypermobility, Osteoarthritis, Atypical or prolonged hepatitis, Osteoporosis,... |
OMIM:277900 |
Graft Versus Host Disease |
|
Skeletal muscle atrophy, Dupuytren contracture, Myositis, Fasciitis, Acute hepatitis, Limited elb... |
ORPHA:39812 |
Moderate Hemophilia A |
|
Arthropathy, Hip contracture, Cartilage destruction, Limitation of joint mobility, Synovitis, Joi... |
ORPHA:169805 |
Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Wide cranial sutures, Protrusio acetabuli, Recurrent fractures, Multiple prenatal fra... |
OMIM:610682 |
Brachyolmia Type 1, Toledo Type |
|
Precocious costochondral ossification, Opacification of the corneal stroma |
OMIM:271630 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Sclerocornea, Microcornea, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma |
OMIM:615145 |
Familial Cold Urticaria |
|
Arthritis, Conjunctivitis |
ORPHA:47045 |
Osteogenesis Imperfecta |
|
Osteopenia, Corneal opacity, Protrusio acetabuli, Recurrent fractures, Fractures of the long bone... |
ORPHA:666 |
Short Syndrome |
|
Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the iris, Joint ... |
ORPHA:3163 |
Gaucher Disease |
|
Joint dislocation, Osteopenia, Increased bone mineral density, Osteomyelitis, Corneal opacity, Re... |
ORPHA:355 |
3Q29 Microduplication Syndrome |
|
Cataract, Sclerocornea, Craniosynostosis, Camptodactyly of toe, Aniridia, Microphthalmia, Iris co... |
ORPHA:251038 |
Yao Syndrome |
|
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Arthritis, Keratoconjunctivitis sicca |
OMIM:617321 |
Oculomaxillofacial Dysostosis |
|
Corneal opacity, Camptodactyly of finger |
ORPHA:1794 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Aniridia, Developmental glaucoma, Corneal opacity, Craniosynostosis |
ORPHA:1064 |
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features |
|
Lower limb hypertonia, Blue sclerae, Joint hypermobility |
OMIM:616728 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Blue sclerae |
OMIM:177850 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Arthritis, Generalized amyotrophy, Osteomyelitis, Septic arthritis |
OMIM:619423 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Arthropathy, Osteopenia, Sclerotic cranial sutures, Osteolysis involving bones of the upper limbs... |
ORPHA:371428 |
Rheumatoid Arthritis |
|
Joint stiffness, Joint swelling, Digital flexor tenosynovitis, Polyarticular arthritis, Rheumatoi... |
OMIM:180300 |
Rodrigues Blindness |
|
Microcornea, Microphthalmia, Sclerocornea |
OMIM:268320 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Recurrent pneumonia, ... |
ORPHA:47 |
Hemochromatosis, Type 2A |
|
Arthritis |
OMIM:602390 |
Trisomy 8P |
|
Multiple joint contractures, Metopic suture patent to nasal root, Blue sclerae, Astigmatism, Hete... |
ORPHA:264450 |
Chromosome 9P Deletion Syndrome |
|
Blue sclerae |
OMIM:158170 |
Cartilage-Hair Hypoplasia |
|
Abnormally ossified vertebrae, Aplasia/Hypoplasia of the abdominal wall musculature, Joint hyperf... |
ORPHA:175 |
Alpha-Mannosidosis, Adult Form |
|
Osteopenia, Cataract, Corneal opacity, Pneumonia, Macroglossia |
ORPHA:309288 |
Fibromuscular Dysplasia, Multifocal |
|
Blue sclerae, Joint subluxation, Joint hypermobility, Shoulder subluxation |
OMIM:619329 |
Walker-Warburg Syndrome |
|
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Cataract, Corneal... |
ORPHA:899 |
Kabuki Syndrome |
|
Congenital diaphragmatic hernia, Hip dislocation, Microcornea, Joint hyperflexibility, Blue sclerae |
ORPHA:2322 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Osteomyelitis, Neuropathic arthropathy, Keratitis, Corneal scarring, Recurrent corneal erosions, ... |
OMIM:256800 |
Stickler Syndrome |
|
Joint dislocation, Skeletal muscle atrophy, Cataract, Protrusio acetabuli, Ectopia lentis, Osteoa... |
ORPHA:828 |
Fish-Eye Disease |
|
Opacification of the corneal stroma |
OMIM:136120 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Abnormality of the knee, Anterior uveitis, Psoriasiform dermatitis, Generalized morning stiffness... |
ORPHA:85436 |
Hurler-Scheie Syndrome |
|
Corneal opacity, Camptodactyly of finger, Thenar muscle atrophy, Joint stiffness, Contracture of ... |
OMIM:607015 |
Lesch-Nyhan Syndrome |
|
Gout |
ORPHA:510 |
Sapho Syndrome |
|
Osteomyelitis, Psoriasiform dermatitis, Recurrent fractures, Acne, Skin rash, Pustule, Abnormal s... |
ORPHA:793 |
Brucellosis |
|
Anterior uveitis, Pericarditis, Osteomyelitis, Pneumonia, Glomerulonephritis, Orchitis, Myocardit... |
ORPHA:1304 |
Familial Mediterranean Fever |
|
Pericarditis, Skin rash, Orchitis, Osteoarthritis, Peritonitis, Arthritis, Erysipelas, Pancreatitis |
ORPHA:342 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Keratitis, Recurrent otitis media, Conjunctivitis, Corneal opacity |
OMIM:602562 |
Hypermobile Ehlers-Danlos Syndrome |
|
Keratoconus, Joint dislocation, Elbow dislocation, Osteoarthritis, Limitation of joint mobility, ... |
ORPHA:285 |
Adult-Onset Still Disease |
|
Pericarditis, Skin rash, Cartilage destruction, Myocarditis, Hepatitis, Joint swelling, Arthritis |
ORPHA:829 |
Cinca Syndrome |
|
Skin rash, Arthritis, Patellar overgrowth, Uveitis |
OMIM:607115 |
Bartsocas-Papas Syndrome |
|
Popliteal pterygium, Synostosis of joints, Corneal opacity |
ORPHA:1234 |
Microphthalmia With Brain And Digit Anomalies |
|
Cataract, Sclerocornea, Microcornea, Microphthalmia, Iris coloboma |
ORPHA:139471 |
Hemochromatosis, Type 3 |
|
Arthritis |
OMIM:604250 |
Premature Aging Syndrome, Penttinen Type |
|
Corneal opacity, Recurrent fractures, Hyperextensibility of the knee, Osteoporosis, Corneal strom... |
OMIM:601812 |
Kid Syndrome |
|
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... |
ORPHA:477 |
Hypocomplementemic Urticarial Vasculitis |
|
Joint dislocation, Episcleritis, Skin rash, Uveitis, Arthritis, Conjunctivitis, Inflammatory abno... |
ORPHA:36412 |
Marshall-Smith Syndrome |
|
Decreased hip abduction, Large sternal ossification centers, Recurrent fractures, Craniosynostosi... |
OMIM:602535 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Lower limb amyotrophy, Cataract, Corneal opacity |
ORPHA:496790 |
Severe Hemophilia A |
|
Limb joint contracture, Limitation of joint mobility, Synovitis, Joint swelling, Intramuscular he... |
ORPHA:169802 |
Scheie Syndrome |
|
Rhinitis, Limitation of joint mobility, Corneal opacity, Joint stiffness |
ORPHA:93474 |
Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
Majeed Syndrome |
|
Increased bone mineral density, Osteomyelitis, Acne, Inflammatory abnormality of the skin, Pustul... |
ORPHA:77297 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Blue sclerae, Camptodactyly |
OMIM:616894 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Arthropathy, Osteopenia, Seborrheic dermatitis, Limitation of joint mobility, Osteoporosis, Osteo... |
OMIM:259100 |
Hereditary Bullous Dystrophy, Macular Type |
|
Cataract, Corneal opacity, Pneumonia |
ORPHA:1867 |
Mucopolysaccharidosis, Type Ivb |
|
Joint laxity, Ulnar deviation of the wrist, Corneal opacity, Joint stiffness, Osteoporosis, Genu ... |
OMIM:253010 |
Anti-Glomerular Basement Membrane Disease |
|
Arthritis |
ORPHA:375 |
Loeys-Dietz Syndrome |
|
Joint dislocation, Camptodactyly of finger, Craniosynostosis, Joint hyperflexibility, Blue sclerae |
ORPHA:60030 |
Relapsing Polychondritis |
|
Episcleritis, Pericarditis, Cataract, Chondritis of pinna, Keratitis, Myocarditis, Limitation of ... |
ORPHA:728 |
Rutherfurd Syndrome |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:180900 |
Aneurysm-Osteoarthritis Syndrome |
|
Joint laxity, Osteoarthritis of the small joints of the hand, Protrusio acetabuli, Camptodactyly ... |
ORPHA:284984 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Nephritis, Gout |
OMIM:162000 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Corneal opacity, Craniosynostosis, Astigmatism, Metopic synostosis, Arthrogryposis multiplex cong... |
OMIM:301056 |
Autosomal Recessive Robinow Syndrome |
|
Camptodactyly of finger, Elbow dislocation, Blue sclerae, Chronic otitis media, Synostosis of car... |
ORPHA:1507 |
Behcet Syndrome |
|
Erythema nodosum, Iridocyclitis, Epididymitis, Arthritis, Iritis, Hypopyon |
OMIM:109650 |
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
|
Skeletal muscle hypertrophy, Osteoarthritis |
OMIM:619714 |
Dyschondrosteosis-Nephritis Syndrome |
|
Corneal opacity, Madelung deformity |
ORPHA:1765 |
Lyme Disease |
|
Arthritis, Infectious encephalitis, Joint swelling, Uveitis |
ORPHA:91546 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Myositis, Sinusitis, Skin rash, Flexion contracture, Arthritis, Panniculitis, Conjunctivitis |
OMIM:617591 |
Vexas Syndrome |
|
Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Chondritis of pinna,... |
OMIM:301054 |
Mucolipidosis Iii Gamma |
|
Joint stiffness, Opacification of the corneal stroma, Genu valgum |
OMIM:252605 |
Oculoauricular Syndrome |
|
Cataract, Sclerocornea, Phthisis bulbi, Developmental cataract, Microcornea, Iris cyst, Posterior... |
OMIM:612109 |
Vitreoretinochoroidopathy |
|
Pulverulent cataract, Developmental cataract, Microcornea, Posterior staphyloma, Microphthalmia |
OMIM:193220 |
Coloboma, Ocular, Autosomal Dominant |
|
Microphthalmia, Corneal opacity, Peters anomaly |
OMIM:120200 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Recurrent otitis media, Arthritis, Recurrent sinusitis, Membranous nephropathy |
OMIM:615559 |
Microscopic Polyangiitis |
|
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Peritonitis, U... |
ORPHA:727 |
Sialidosis Type 1 |
|
Skeletal muscle atrophy, Cataract, Corneal opacity |
ORPHA:812 |
Oculocerebrocutaneous Syndrome |
|
Congenital hip dislocation, Corneal opacity, Iris coloboma, Congenital diaphragmatic hernia |
ORPHA:1647 |
Cystinosis |
|
Myopathy, Corneal opacity, Rickets |
ORPHA:213 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Corneal opacity |
OMIM:618961 |
Hunter-Macdonald Syndrome |
|
Premature osteoarthritis, Camptodactyly, Cubitus valgus, Joint contracture of the hand, Delayed c... |
OMIM:611962 |
Cardiospondylocarpofacial Syndrome |
|
Joint laxity, Tarsal synostosis, Congenital diaphragmatic hernia, Fused cervical vertebrae, Fusio... |
OMIM:157800 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Cataract, Sclerocornea, Microcornea, Ectopia pupillae, Recurrent patellar dislocation, Microphtha... |
OMIM:615877 |
Reactive Arthritis |
|
Pericarditis, Osteomyelitis, Joint stiffness, Cartilage destruction, Pustule, Enthesitis, Arthrit... |
ORPHA:29207 |
Mixed Connective Tissue Disease |
|
Myositis, Pericarditis, Skin rash, Gastritis, Joint stiffness, Myocarditis, Osteolysis, Arthritis... |
ORPHA:809 |
Congenital Tufting Enteropathy |
|
Arthritis, Corneal erosion, Cataract, Punctate keratitis |
ORPHA:92050 |
Loeys-Dietz Syndrome 1 |
|
Joint laxity, Eosinophilic infiltration of the esophagus, Craniosynostosis, Blue sclerae, Camptod... |
OMIM:609192 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Bronchiectasis, Arthritis, Crohn's disease |
OMIM:616100 |
Gelatinous Drop-Like Corneal Dystrophy |
|
Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op... |
ORPHA:98957 |
Takayasu Arteritis |
|
Arthritis, Increased inflammatory response, Inflammatory abnormality of the eye |
ORPHA:3287 |
Scedosporiosis |
|
Pericarditis, Sinusitis, Arthralgia/arthritis, Pneumonia, Osteomyelitis, Endocarditis, Septic art... |
ORPHA:449280 |
Psoriasis 14, Pustular |
|
Psoriasiform dermatitis, Cholangitis, Pustule, Oligoarthritis, Polyarticular arthritis |
OMIM:614204 |
Rheumatic Fever |
|
Pericarditis, Sinusitis, Myocarditis, Aplasia/Hypoplasia of the abdominal wall musculature, Endoc... |
ORPHA:3099 |
Mucopolysaccharidosis, Type Vii |
|
Corneal opacity, Diastasis recti, Joint stiffness, Flexion contracture, Limitation of joint mobil... |
OMIM:253220 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Blue sclerae |
OMIM:616539 |
Mucopolysaccharidosis Type 4 |
|
Joint dislocation, Corneal opacity, Reduced bone mineral density, Genu valgum, Joint hyperflexibi... |
ORPHA:582 |
Dyggve-Melchior-Clausen Disease |
|
Corneal opacity, Hypoplastic acetabulae, Genu valgum, Abnormality of the ankle, Broad carpal bone... |
ORPHA:239 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Cataract, Corneal opacity, Buphthalmos, Congenital contracture, Peters anomaly, Microphthalmia, M... |
OMIM:236670 |
Wrinkly Skin Syndrome |
|
Osteopenia, Scapular winging, Congenital hip dislocation, Joint hypermobility, Delayed closure of... |
OMIM:278250 |
Mucopolysaccharidosis Type 2 |
|
Corneal opacity, Limitation of joint mobility, Abnormal epiphyseal ossification, Contractures of ... |
ORPHA:580 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Pneumonia, Erythema nodosum, Recurrent pneumonia, Bronchiectasis, Uveitis, Th... |
OMIM:614700 |
Syndromic Recessive X-Linked Ichthyosis |
|
Corneal opacity |
ORPHA:281090 |
Hurler Syndrome |
|
Corneal opacity, Joint stiffness, Flexion contracture, Macroglossia, Opacification of the corneal... |
OMIM:607014 |
Overlap Myositis |
|
Proximal muscle weakness in upper limbs, Subluxation of the small joints of the hand, Perifascicu... |
ORPHA:206572 |
Gm1 Gangliosidosis |
|
Corneal opacity, Camptodactyly of finger, Joint stiffness, Aplasia/Hypoplasia of the abdominal wa... |
ORPHA:354 |
Insulin-Resistance Syndrome Type B |
|
Skin rash, Osteoarthritis, Nephritis, Pneumonia |
ORPHA:2298 |
Mucopolysaccharidosis Type 1 |
|
Joint dislocation, Sinusitis, Corneal opacity, Joint stiffness, Abnormal tendon morphology, Chron... |
ORPHA:579 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Corneal opacity, Blepharitis |
OMIM:602400 |
Sjogren Syndrome |
|
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid arthritis |
OMIM:270150 |
Roifman-Chitayat Syndrome |
|
Osteopenia, Arthritis, Pneumonia |
OMIM:613328 |
Immunodeficiency 68 |
|
Septic arthritis, Lymphadenitis, Recurrent skin infections |
OMIM:612260 |
Classical Ehlers-Danlos Syndrome |
|
Osteopenia, Phalangeal dislocation, Osteoarthritis, Generalized joint laxity, Hip dislocation, Jo... |
ORPHA:287 |
Zellweger Syndrome |
|
Cataract, Corneal opacity, Brushfield spots, Epiphyseal stippling, Posterior embryotoxon |
ORPHA:912 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Cataract, Brushfield spots, Opacification of the corneal stroma, Camptodactyly, Cubitus valgus, J... |
OMIM:214110 |
Autosomal Dominant Robinow Syndrome |
|
Elbow dislocation, Blue sclerae, Hip dislocation, Camptodactyly of finger |
ORPHA:3107 |
Bacterial Toxic-Shock Syndrome |
|
Myositis, Osteomyelitis, Fasciitis, Sinusitis, Pneumonia, Skin rash, Glomerulonephritis, Recurren... |
ORPHA:36234 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Septic arthritis, Recurrent pneumonia, Eczema |
OMIM:617780 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Arthritis, Cervical subluxation |
OMIM:184100 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Wormian bones, Opacification of the corneal stroma |
OMIM:601356 |
Mosaic Trisomy 9 |
|
Corneal opacity, Camptodactyly of finger, Elbow dislocation, Limitation of joint mobility, Hip di... |
ORPHA:99776 |
Sanjad-Sakati Syndrome |
|
Myopathy, Astigmatism, Corneal opacity, Patchy osteosclerosis |
ORPHA:2323 |
Hutchinson-Gilford Progeria Syndrome |
|
Limitation of movement at ankles, Corneal opacity, Limited wrist movement, Joint stiffness, Osteo... |
ORPHA:740 |
Roberts-Sc Phocomelia Syndrome |
|
Cataract, Corneal opacity, Ankle flexion contracture, Craniosynostosis, Elbow flexion contracture... |
OMIM:268300 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Pyoderma, Conjunctivitis,... |
OMIM:307200 |
Xp22.3 Microdeletion Syndrome |
|
Opacification of the corneal stroma |
ORPHA:1643 |
Glycogen Storage Disease Vii |
|
Increased muscle glycogen content, Increased variability in muscle fiber diameter, Gout |
OMIM:232800 |
Alpha-Mannosidosis, Infantile Form |
|
Osteopenia, Joint laxity, Cataract, Corneal opacity, Facial hypotonia, Craniosynostosis, Joint st... |
ORPHA:309282 |
Fusariosis |
|
Myositis, Osteomyelitis, Fasciitis, Sinusitis, Maculopapular exanthema, Pneumonia, Keratitis, Per... |
ORPHA:228119 |
Mosaic Trisomy 8 |
|
Corneal opacity, Camptodactyly of finger, Patellar aplasia, Limitation of joint mobility, Arthrog... |
ORPHA:96061 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Arthropathy, Decreased muscle mass, Joint stiffness, Osteoporosis, Arthritis, Joint swelling, Sti... |
ORPHA:465508 |
Autoimmune Hepatitis |
|
Viral hepatitis, Glomerulonephritis, Fulminant hepatitis, Thyroiditis, Ulcerative colitis, Arthri... |
ORPHA:2137 |
Loeys-Dietz Syndrome 3 |
|
Joint laxity, Cataract, Protrusio acetabuli, Craniosynostosis, Eosinophilic infiltration of the e... |
OMIM:613795 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Joint laxity, Hip contracture, Hyperextensibility of the finger joints, Diaphragmatic eventration... |
OMIM:619503 |
Reynolds Syndrome |
|
Skin rash, Arthritis, Keratoconjunctivitis sicca, Infectious encephalitis |
ORPHA:779 |
Ichthyosis, X-Linked |
|
Opacification of the corneal stroma |
OMIM:308100 |
Hereditary Xanthinuria |
|
Arthropathy, Myopathy, Rheumatoid arthritis, Gout |
ORPHA:3467 |
Dysbetalipoproteinemia |
|
Corneal arcus, Acute pancreatitis, Tendon xanthomatosis, Gout |
ORPHA:412 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Gout |
OMIM:617056 |
Complement Factor I Deficiency |
|
Recurrent skin infections, Glomerulonephritis, Pyelonephritis, Recurrent sinusitis, Recurrent oti... |
OMIM:610984 |
Multiple Sulfatase Deficiency |
|
Cataract, Corneal opacity, Joint stiffness |
ORPHA:585 |
Mucolipidosis Iii Alpha/Beta |
|
Craniosynostosis, Hyperopic astigmatism, Irregular carpal bones, Opacification of the corneal str... |
OMIM:252600 |
Loeys-Dietz Syndrome 2 |
|
Joint laxity, Protrusio acetabuli, Craniosynostosis, Eosinophilic infiltration of the esophagus, ... |
OMIM:610168 |
Mucopolysaccharidosis Type 6 |
|
Sinusitis, Joint stiffness, Genu valgum, Macroglossia, Opacification of the corneal stroma, Chron... |
ORPHA:583 |
Localized Scleroderma |
|
Skeletal muscle atrophy, Fasciitis, Flexion contracture, Uveitis, Arthritis, Myopathy, Esophagiti... |
ORPHA:90289 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Viral hepatitis, Psoriasiform dermatitis, Skin rash, Cholangitis, Pneumonia, A... |
ORPHA:183675 |
Stromme Syndrome |
|
Cataract, Sclerocornea, Microcornea, Myopathy, Peters anomaly, Microphthalmia, Iris coloboma |
OMIM:243605 |
Achalasia, Familial Esophageal |
|
Keratoconjunctivitis sicca, Rheumatoid arthritis |
OMIM:200400 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Osteopenia, Hypophosphatemic rickets, Corneal opacity, Recurrent fractures |
OMIM:163200 |
Aortic Aneurysm, Familial Thoracic 12 |
|
Arthritis |
OMIM:619825 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Cataract, Corneal opacity, Camptodactyly of finger, Recurrent skin infections, Synovi... |
ORPHA:3455 |
Recessive X-Linked Ichthyosis |
|
Opacification of the corneal stroma |
ORPHA:461 |
Mucopolysaccharidosis Type 7 |
|
Epiphyseal stippling, Corneal opacity, Hepatitis, Joint stiffness |
ORPHA:584 |
Familial Dysautonomia |
|
Corneal opacity, Recurrent fractures, Abnormal pupil morphology, Corneal erosion, Osteolysis, Het... |
ORPHA:1764 |
Fish-Eye Disease |
|
Corneal opacity |
ORPHA:79292 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Arthritis, Peritonitis, Limitation of joint mobility, Recurrent aphthous stomatitis |
ORPHA:343 |
Wiedemann-Rautenstrauch Syndrome |
|
Cataract, Pneumonia, Delayed closure of the anterior fontanelle, Flexion contracture, Blue sclera... |
OMIM:264090 |
Osteopetrosis With Renal Tubular Acidosis |
|
Osteopetrosis, Blue sclerae, Recurrent fractures |
ORPHA:2785 |
Focal Dermal Hypoplasia |
|
Corneal opacity, Camptodactyly of finger, Congenital diaphragmatic hernia, Ectopia lentis, Diasta... |
ORPHA:2092 |
Diffuse Cutaneous Systemic Sclerosis |
|
Arthritis, Flexion contracture, Osteolysis |
ORPHA:220393 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Lower limb hypertonia, Blue sclerae |
ORPHA:477993 |
Cryoglobulinemic Vasculitis |
|
Arthritis, Keratoconjunctivitis sicca, Viral hepatitis |
ORPHA:91138 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Glomerulonephritis, Eczema, Hepatitis, Arthritis, Erythroderma |
OMIM:304790 |
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Opacification of the corneal stroma |
OMIM:204850 |
Shigellosis |
|
Pneumonia, Myocarditis, Peritonitis, Rhabdomyolysis, Uveitis, Ulcerative colitis, Arthritis, Conj... |
ORPHA:810 |
Polymyositis |
|
Arthritis, Pericarditis, Chondrocalcinosis, Abnormal muscle fiber morphology |
ORPHA:732 |
Felty Syndrome |
|
Rheumatoid arthritis |
OMIM:134750 |
Carpenter Syndrome 1 |
|
Sagittal craniosynostosis, Lateral displacement of patellae, Genu valgum, Microcornea, Lambdoidal... |
OMIM:201000 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Gout |
OMIM:618061 |
Interstitial Granulomatous Dermatitis With Arthritis |
|
Inflammatory abnormality of the skin, Rheumatoid arthritis |
ORPHA:79099 |
Pachydermoperiostosis |
|
Osteomyelitis, Acne, Seborrheic dermatitis, Limitation of joint mobility, Osteoporosis, Osteolysi... |
ORPHA:2796 |
Distal Deletion 6P |
|
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... |
ORPHA:96125 |
Carpenter Syndrome 2 |
|
Craniosynostosis, Knee flexion contracture, Blue sclerae, Camptodactyly, Diaphragmatic eventration |
OMIM:614976 |
Moebius Syndrome |
|
Skeletal muscle atrophy, Corneal opacity, Facial palsy, Aplasia of the pectoralis major muscle, A... |
ORPHA:570 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Microphthalmia, Cataract, Sclerocornea, Camptodactyly |
OMIM:614230 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Increased inflammatory response, Myositis, Sinusitis, Skin rash, Myocarditis, Endocarditis, Arthr... |
ORPHA:183 |
Schimke Immuno-Osseous Dysplasia |
|
Minimal change glomerulonephritis, Corneal opacity, Pancreatitis, Shallow acetabular fossae |
ORPHA:1830 |
Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Arthritis, Gout |
ORPHA:411543 |
Hurler Syndrome |
|
Corneal opacity, Camptodactyly of finger, Abnormality of the elbow, Limitation of joint mobility,... |
ORPHA:93473 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Microphthalmia, Iris coloboma, Sclerocornea |
ORPHA:77298 |
3Mc Syndrome 3 |
|
Radioulnar synostosis, Corneal opacity, Diastasis recti |
OMIM:248340 |
Adiposis Dolorosa |
|
Arthritis, Recurrent skin infections |
ORPHA:36397 |
Pediatric Systemic Lupus Erythematosus |
|
Myositis, Skin rash, Discoid lupus rash, Arthritis, Malar rash, Nephritis |
ORPHA:93552 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Myositis, Fasciitis, Pericarditis, Skin rash, Orchitis, Abnormal sacroiliac joint morphology, Per... |
ORPHA:32960 |
Immunodeficiency 85 And Autoimmunity |
|
Oligoarthritis, Eczema, Erythroderma |
OMIM:619510 |
Larsen Syndrome |
|
Joint laxity, Vertebral fusion, Corneal opacity, Elbow dislocation, Dislocated wrist, Accessory c... |
OMIM:150250 |
Mucopolysaccharidosis Type 3 |
|
Cataract, Corneal opacity, Joint stiffness, Flexion contracture, Genu valgum, Reduced bone minera... |
ORPHA:581 |
Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Microphthalmia, Limbal dermoid, Sclerocornea |
OMIM:613001 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Cataract, Corneal opacity, Limitation of joint mobility, Ocular albinism, Iris hypopigmentation |
ORPHA:2719 |
Whipple Disease |
|
Myositis, Pericarditis, Myocarditis, Uveitis, Arthritis, Infectious encephalitis |
ORPHA:3452 |
Congenital Sialidosis Type 2 |
|
Cataract, Corneal opacity, Developmental cataract |
ORPHA:93400 |
Kabuki Syndrome 1 |
|
Joint dislocation, Congenital hip dislocation, Blue sclerae, Recurrent otitis media, Recurrent as... |
OMIM:147920 |
Gorlin-Chaudhry-Moss Syndrome |
|
Coronal craniosynostosis, Astigmatism, Sclerocornea |
ORPHA:2095 |
Gomez-Lopez-Hernandez Syndrome |
|
Wormian bones, Craniosynostosis, Opacification of the corneal stroma |
OMIM:601853 |
Tbck-Related Intellectual Disability Syndrome |
|
Skeletal muscle atrophy, Prominent metopic ridge, Corneal opacity, Diastasis recti, Eczema, Osteo... |
ORPHA:488632 |
Dowling-Degos Disease |
|
Arthritis, Acne inversa |
ORPHA:79145 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Generalized bone demineralization, Opacification of the corneal stroma |
OMIM:215250 |
Juvenile Sialidosis Type 2 |
|
Cataract, Corneal opacity |
ORPHA:93399 |
Lcat Deficiency |
|
Corneal opacity |
ORPHA:650 |
Generalized Pustular Psoriasis |
|
Pustule, Cheilitis, Uveitis, Arthritis, Palmoplantar pustulosis, Erythroderma |
ORPHA:247353 |
Oculocerebrorenal Syndrome Of Lowe |
|
Cataract, Corneal opacity, Osteomalacia, Recurrent fractures, Joint stiffness, Abnormal pupil mor... |
ORPHA:534 |
Acromegaly |
|
Macroglossia, Joint swelling, Osteoarthritis, Acne |
ORPHA:963 |
Kindler Epidermolysis Bullosa |
|
Corneal opacity, Camptodactyly of finger, Recurrent skin infections, Flexion contracture, Cheilit... |
ORPHA:2908 |
Mucopolysaccharidosis, Type Iva |
|
Joint laxity, Ulnar deviation of the wrist, Recurrent pneumonia, Osteoporosis, Genu valgum, Cervi... |
OMIM:253000 |
Fucosidosis |
|
Decreased muscle mass, Corneal opacity |
ORPHA:349 |
Marshall Syndrome |
|
Knee osteoarthritis, Cataract, Recurrent otitis media, Lens luxation |
OMIM:154780 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Microphthalmia, Ectopia pupillae, Corneal opacity, Lens subluxation |
ORPHA:85167 |
Vascular Ehlers-Danlos Syndrome |
|
Keratoconus, Joint dislocation, Congenital hip dislocation, Abnormal pupil morphology, Osteoarthr... |
ORPHA:286 |
Mucopolysaccharidosis, Type Vi |
|
Corneal opacity, Pneumonia, Joint stiffness, Flexion contracture, Genu valgum, Macroglossia, Hypo... |
OMIM:253200 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Microphthalmia, Prominent metopic ridge, Corneal opacity |
ORPHA:364577 |
Tangier Disease |
|
Left ventricular hypertrophy, Facial diplegia, Distal amyotrophy, Opacification of the corneal st... |
OMIM:205400 |
Visual Impairment And Progressive Phthisis Bulbi |
|
Phthisis bulbi, Flat cornea |
OMIM:618283 |
Somatomammotropinoma |
|
Macroglossia, Joint swelling, Osteoarthritis |
ORPHA:314769 |
Mosaic Variegated Aneuploidy Syndrome |
|
Cataract, Corneal opacity, Rhabdomyosarcoma, Osteolysis, Muscular dystrophy, Microphthalmia |
ORPHA:1052 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Sagittal craniosynostosis, Hyperextensible hand joints, Blue sclerae, Metopic synostosis, Hyperex... |
ORPHA:500150 |
Wagro Syndrome |
|
Aniridia, Cataract, Corneal opacity |
OMIM:612469 |
Viss Syndrome |
|
Joint laxity, Chronic gastritis, Recurrent joint dislocation, Eczema, Generalized joint laxity, H... |
OMIM:619472 |
Chikungunya |
|
Maculopapular exanthema, Skin rash, Joint stiffness, Erythema nodosum, Crusting erythematous derm... |
ORPHA:324625 |
Fryns Syndrome |
|
Microphthalmia, Corneal opacity, Congenital diaphragmatic hernia |
ORPHA:2059 |
Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Arthritis |
ORPHA:411536 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Corneal opacity, Camptodactyly of finger, Flexion contracture, Limitation of joint mobility, Arth... |
ORPHA:217085 |
Encephalocraniocutaneous Lipomatosis |
|
Corneal opacity, Abnormal cartilage morphology, Osteolysis, Osteochondrosis, Iris coloboma |
ORPHA:2396 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Corneal opacity, Camptodactyly of finger, Flexion contracture, Limitation of joint mobility, Arth... |
ORPHA:217093 |
Fabry Disease |
|
Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy, Reduced bone mineral d... |
ORPHA:324 |
Papillorenal Syndrome |
|
Joint laxity, Cataract, Lens luxation, Scleral staphyloma, Microphthalmia |
OMIM:120330 |
Medullary cystic kidney disease 2 |
|
Tubulointerstitial nephritis, Gout |
OMIM:603860 |
Sitosterolemia 1 |
|
Arthritis, Corneal arcus |
OMIM:210250 |
Sweet Syndrome |
|
Predominantly dermal neutrophilic infiltrate, Myositis, Acne, Pustule, Oligoarthritis, Inflammati... |
ORPHA:3243 |
Systemic Sclerosis |
|
Pericarditis, Osteomyelitis, Recurrent skin infections, Glomerulonephritis, Myocarditis, Flexion ... |
ORPHA:90291 |
Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... |
OMIM:106210 |
Spondyloenchondrodysplasia |
|
Skin rash, Pneumonia, Hepatitis, Arthritis, Juvenile rheumatoid arthritis |
ORPHA:1855 |
Mosaic Trisomy 1 |
|
Camptodactyly of finger, Congenital diaphragmatic hernia, Elbow flexion contracture, Opacificatio... |
ORPHA:1692 |
Thrombocytopenia-Absent Radius Syndrome |
|
Cataract, Corneal opacity, Shoulder muscle hypoplasia, Seborrheic dermatitis, Patellar aplasia, H... |
OMIM:274000 |
Behçet Disease |
|
Increased inflammatory response, Myositis, Cataract, Acne, Pericarditis, Orchitis, Retrobulbar op... |
ORPHA:117 |
Blau Syndrome |
|
Pericarditis, Cataract, Skin rash, Camptodactyly of finger, Facial palsy, Keratitis, Retrobulbar ... |
ORPHA:90340 |
Autoimmune Polyendocrinopathy Type 1 |
|
Chronic mucocutaneous candidiasis, Cataract, Opacification of the corneal stroma |
ORPHA:3453 |
Agammaglobulinemia, X-Linked |
|
Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, Bronchiectasis, Pyoderma, ... |
OMIM:300755 |
Listeriosis |
|
Pericarditis, Stiff neck, Osteomyelitis, Pneumonia, Pustule, Myocarditis, Peritonitis, Rhabdomyol... |
ORPHA:533 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Flexion contracture of finger, Astigmatism, Corneal opacity, Ankle flexion contracture |
ORPHA:464311 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Distal lower limb amyotrophy, Corneal opacity, Recurrent skin infections, Craniosynostosis |
ORPHA:79396 |
Immunoglobulin A Vasculitis |
|
Episcleritis, Skin rash, Pustule, Orchitis, Arthritis, Infectious encephalitis |
ORPHA:761 |
Juvenile Dermatomyositis |
|
Calcinosis, Myositis, Pericarditis, Skin rash, Limitation of joint mobility, Arthritis |
ORPHA:93672 |
X-Linked Hypophosphatemia |
|
Craniosynostosis, Generalized osteosclerosis, Sacroiliac joint synovitis, Limitation of joint mob... |
ORPHA:89936 |
Galloway-Mowat Syndrome 1 |
|
Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Camptodactyly, Microphthal... |
OMIM:251300 |
Van Den Ende-Gupta Syndrome |
|
Sclerocornea, Craniosynostosis, Elbow flexion contracture, Knee flexion contracture, Camptodactyl... |
OMIM:600920 |
Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Diastasis recti, Craniosynostosis, Limitation of joint mobility, Hip dislocation, Pat... |
OMIM:252500 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Episcleritis, Corneal opacity, Camptodactyly of finger, Eczema, Keratitis, Corneal erosion, Cheil... |
ORPHA:2273 |
Primary Sjögren Syndrome |
|
Myositis, Chronic active hepatitis, Glomerulonephritis, Lymphocytic interstitial pneumonia, Eryth... |
ORPHA:289390 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Sclerocornea, Congenital diaphragmatic hernia, Peters anomaly, Microphthalmia, Iris col... |
OMIM:309801 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Multiple joint contractures, Astigmatism, Corneal opacity, Eczema |
ORPHA:464306 |
Tyrosinemia Type 2 |
|
Corneal opacity |
ORPHA:28378 |
Autosomal Dominant Cutis Laxa |
|
Osteopenia, Joint laxity, Genu recurvatum, Corneal opacity, Hip dislocation, Bronchiectasis, Deve... |
ORPHA:90348 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Corneal opacity, Polycoria, Developmental cataract, Microcornea, Hypoplasia of the iris, Ectopia ... |
OMIM:175780 |
Multiple Sulfatase Deficiency |
|
Corneal opacity |
OMIM:272200 |
Giant Cell Arteritis |
|
Arthritis, Pericarditis, Joint stiffness |
ORPHA:397 |
Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Elbow flexion contracture, Osteoporosis, Contracture of the proximal interphalan... |
OMIM:601559 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Pneumonia, Recurrent pneumonia, Arthritis, Otitis media, Recurrent s... |
ORPHA:420741 |
Mucoepithelial Dysplasia, Hereditary |
|
Cataract, Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis... |
OMIM:158310 |
Histiocytoid Cardiomyopathy |
|
Microphthalmia, Megalocornea, Corneal opacity, Congenital aphakia |
ORPHA:137675 |
Schimke Immunoosseous Dysplasia |
|
Osteopenia, Astigmatism, Shallow acetabular fossae, Opacification of the corneal stroma |
OMIM:242900 |
Catastrophic Antiphospholipid Syndrome |
|
Myocarditis, Arthritis |
ORPHA:464343 |
Microphthalmia, Syndromic 3 |
|
Microphthalmia, Cataract, Sclerocornea, Vertebral fusion |
OMIM:206900 |
Lymphatic Filariasis |
|
Glomerulonephritis, Ankle swelling, Orchitis, Lymphadenitis, Knee osteoarthritis, Epididymitis |
ORPHA:2035 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Osteopenia, Psoriasiform dermatitis, Arthritis, Chronic oral candidiasis, Recurrent aspiration pn... |
ORPHA:221139 |
Congenital Disorder Of Deglycosylation 1 |
|
Facial hypotonia, Corneal opacity, Osteoporosis, Intrinsic hand muscle atrophy, Corneal ulceration |
OMIM:615273 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Microphthalmia, Sclerocornea |
OMIM:300952 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae |
OMIM:601499 |
Spondyloocular Syndrome |
|
Osteopenia, Posterior subcapsular cataract, Cataract, Abnormal sclera morphology |
OMIM:605822 |
Simple Cryoglobulinemia |
|
Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Arthritis, Nephritis |
ORPHA:91139 |
Glycogen Storage Disease Ia |
|
Decreased muscle mass, Osteoporosis, Pancreatitis, Gout |
OMIM:232200 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Rickets, Corneal crystals |
OMIM:219900 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Skin rash, Perianal abscess, Arthritis, Inflammation of the large intestine, C... |
OMIM:301074 |
Hyper-Igd Syndrome |
|
Skin rash, Lymphadenitis, Arthritis, Chronic oral candidiasis, Serositis |
OMIM:260920 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Iris atrophy, Cataract, Recurrent fractures, Phthisis bulbi, Osteoporosis, Increased ... |
OMIM:259770 |
Coccidioidomycosis |
|
Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Erythema nodosum, Peritonitis, Osteolysis, Art... |
ORPHA:228123 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Cataract, Brushfield spots, Epiphyseal stippling, Macroglossia, Opacification of the corneal stro... |
OMIM:214100 |
Familial Mediterranean Fever |
|
Pericarditis, Orchitis, Peritonitis, Arthritis, Crohn's disease, Erysipelas |
OMIM:249100 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Persistent open anterior fontanelle, Cataract, Brushfield spots, Epiphyseal stippling, Opacificat... |
OMIM:614866 |
Wiskott-Aldrich Syndrome |
|
Sinusitis, Eczema, Keratitis, Arthritis, Inflammation of the large intestine, Conjunctivitis, Oti... |
ORPHA:906 |
Idiopathic Hypereosinophilic Syndrome |
|
Skeletal muscle atrophy, Inflammatory abnormality of the skin, Ankle swelling, Cholangitis, Eczem... |
ORPHA:3260 |
Multiple Osteochondromas |
|
Abnormality of the knee, Abnormal cartilage morphology, Abnormal carpal morphology, Femoroacetabu... |
ORPHA:321 |
Ablepharon Macrostomia Syndrome |
|
Corneal erosion, Corneal opacity, Camptodactyly of finger |
ORPHA:920 |
Kawasaki Disease |
|
Pericarditis, Skin rash, Myocarditis, Hepatitis, Cheilitis, Arthritis, Conjunctivitis, Cholecystitis |
ORPHA:2331 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Skin rash, Eczema, Erythema nodosum, Arthritis, Panniculitis, Recurrent sinusitis, Recurrent otit... |
OMIM:615688 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Gout |
ORPHA:79233 |
Sympathetic Ophthalmia |
|
Cataract, Anterior chamber cells, Posterior synechiae of the anterior chamber, Scleral thickening... |
ORPHA:79098 |
Chime Syndrome |
|
Corneal opacity, Osteolysis, Hip dislocation |
ORPHA:3474 |
Neurofibromatosis Type 1 |
|
Cataract, Corneal opacity, Recurrent fractures, Joint stiffness, Genu valgum, Lisch nodules, Hete... |
ORPHA:636 |
Cimdag Syndrome |
|
Scleral staphyloma, Developmental cataract |
OMIM:619273 |
Immunodeficiency 82 With Systemic Inflammation |
|
Osteomyelitis, Skin rash, Osteomalacia, Pneumonia, Recurrent skin infections, Gastritis, Bronchie... |
OMIM:619381 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Microphthalmia, Prominent metopic ridge, Corneal opacity |
OMIM:608670 |
Plague |
|
Chapped lip, Skin rash, Erythema nodosum, Lymphadenitis, Abnormality of the elbow, Enterocolitis,... |
ORPHA:707 |
22Q11.2 Deletion Syndrome |
|
Cataract, Acne, Seborrheic dermatitis, Multiple suture craniosynostosis, Arthritis, Joint hyperfl... |
ORPHA:567 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Hepatitis, Atopic dermatitis, Arthritis, Li... |
OMIM:615846 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Corneal opacity, Congenital diaphragmatic hernia, Sclerocornea, Microphthalmia, Posterior embryot... |
ORPHA:2556 |
Bartsocas-Papas Syndrome 1 |
|
Flexion contracture, Popliteal pterygium, Opacification of the corneal stroma, Microphthalmia, Pt... |
OMIM:263650 |
Pseudo-Torch Syndrome 1 |
|
Cataract, Opacification of the corneal stroma |
OMIM:251290 |
Phace Syndrome |
|
Cataract, Sclerocornea, Lens coloboma, Microphthalmia, Heterochromia iridis, Iris coloboma |
ORPHA:42775 |
Aicardi-Goutières Syndrome |
|
Myositis, Multiple joint contractures, Chilblains, Developmental glaucoma, Arthritis, Panniculitis |
ORPHA:51 |
Williams Syndrome |
|
Osteopenia, Chronic otitis media, Megalocornea, Joint laxity, Increased bone mineral density, Blu... |
ORPHA:904 |
Postinfectious Vasculitis |
|
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... |
ORPHA:48435 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Buphthalmos, Keratoconjunctivitis sicca, Corneal opacity, Corneal dystrophy |
ORPHA:495875 |
Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Abnormal... |
ORPHA:649 |
Hereditary Spherocytosis |
|
Maculopapular exanthema, Gout |
ORPHA:822 |
Galactosialidosis |
|
Conjunctival telangiectasia, Opacification of the corneal stroma |
OMIM:256540 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Fasciitis, Osteomyelitis, Neuropathic arthropathy, Corneal scarring, Painless fractures due to in... |
ORPHA:642 |
Lathosterolosis |
|
Microcornea, Prominent metopic ridge, Cataract, Opacification of the corneal stroma |
ORPHA:46059 |
Hereditary Acrokeratotic Poikiloderma |
|
Eczema, Camptodactyly of finger, Pustule, Keratoconjunctivitis, Joint hyperflexibility, Opacifica... |
ORPHA:2907 |
Tangier Disease |
|
Left ventricular hypertrophy, Facial diplegia, Corneal opacity |
ORPHA:31150 |
Glycogen Storage Disease Ib |
|
Inflammation of the large intestine, Osteoporosis, Pancreatitis, Gout |
OMIM:232220 |
Proboscis Lateralis |
|
Cataract, Corneal opacity, Microcornea, Microphthalmia, Iris coloboma |
ORPHA:141099 |
Autoimmune Lymphoproliferative Syndrome |
|
Gastritis, Glomerulonephritis, Hepatitis, Uveitis, Thyroiditis, Arthritis, Colitis, Panniculitis,... |
ORPHA:3261 |
Lacrimoauriculodentodigital Syndrome |
|
Increased corneal thickness, Keratoconjunctivitis, Arthritis, Keratoconjunctivitis sicca, Recurre... |
ORPHA:2363 |
Systemic Lupus Erythematosus |
|
Lupus nephritis, Discoid lupus rash, Cheilitis, Arthritis, Malar rash, Serositis |
ORPHA:536 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Osteoporosis, Enterocolitis, Gout, Increased susceptibility to fractures, Ulcerative ... |
ORPHA:79259 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Tubulointerstitial nephritis, Gout |
OMIM:174000 |
Wolf-Hirschhorn Syndrome |
|
Congenital diaphragmatic hernia, Sclerocornea, Osteoporosis, Chronic otitis media, Megalocornea, ... |
ORPHA:280 |
Dpagt1-Cdg |
|
Flexion contracture, Osteoporosis, Developmental cataract, Astigmatism, Camptodactyly, Ocular mel... |
ORPHA:86309 |
Meckel Syndrome |
|
Cataract, Sclerocornea, Microcornea, Aplasia/Hypoplasia of the iris, Microphthalmia |
ORPHA:564 |
Dermatomyositis |
|
Pericarditis, Myocarditis, Arthritis, Inflammatory myopathy, Chondrocalcinosis |
ORPHA:221 |
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Arthritis, Osteolytic defects of the phalanges of the hand, Foot acroosteolysis |
OMIM:161700 |
Chronic Graft Versus Host Disease |
|
Fasciitis, Urinary bladder inflammation, Flexion contracture, Bronchiectasis, Arthritis, Keratoco... |
ORPHA:99921 |
Cockayne Syndrome B |
|
Limitation of joint mobility, Osteoporosis, Ivory epiphyses of the phalanges of the hand, Develop... |
OMIM:133540 |
Limb Body Wall Complex |
|
Corneal opacity, Diastasis recti, Congenital diaphragmatic hernia, Lens subluxation, Iris coloboma |
ORPHA:2369 |
Apolipoprotein A-I Deficiency |
|
Opacification of the corneal stroma |
ORPHA:425 |
Yunis-Varon Syndrome |
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Wide cranial sutures, Cataract, Absent sternal ossification, Sclerocornea, Bilateral microphthalm... |
ORPHA:3472 |
Smith-Lemli-Opitz Syndrome |
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Cataract, Congenital diaphragmatic hernia, Sclerocornea, Hip dislocation, Iris coloboma |
ORPHA:818 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
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Arthritis, Joint hyperflexibility |
ORPHA:93111 |
Fryns Syndrome |
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Aplasia of the left hemidiaphragm, Opacification of the corneal stroma, Camptodactyly, Microphtha... |
OMIM:229850 |
Oculoectodermal Syndrome |
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Microcornea, Limbal dermoid, Astigmatism, Opacification of the corneal stroma |
OMIM:600268 |
Marburg Hemorrhagic Fever |
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Pericarditis, Maculopapular exanthema, Skin rash, Orchitis, Uveitis, Arthritis, Conjunctival hype... |
ORPHA:99826 |
Bartter Syndrome, Type 3 |
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Abnormal sclera morphology |
OMIM:607364 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Cataract, Buphthalmos, Muscular dystrophy, Opacification of the corneal stroma, Microphthalmia, M... |
OMIM:253280 |
Glycogen Storage Disease Ic |
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Stomatitis, Inflammation of the large intestine, Gout, Chronic pancreatitis |
OMIM:232240 |
Xeroderma Pigmentosum |
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Conjunctival telangiectasia, Cataract, Keratitis, Opacification of the corneal stroma, Pterygium,... |
ORPHA:910 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
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Gout |
OMIM:300661 |
Fraser Syndrome 1 |
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Bilateral microphthalmos, Corneal opacity |
OMIM:219000 |
Carney Complex, Type 1 |
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Pigmentation of the sclera |
OMIM:160980 |
Peters Plus Syndrome |
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Cataract, Corneal opacity, Microcornea, Peters anomaly, Iris coloboma, Anterior chamber synechiae |
ORPHA:709 |
Lathosterolosis |
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Pathologic fracture, Cataract, Osteoporosis, Opacification of the corneal stroma |
OMIM:607330 |
Sarcoidosis, Susceptibility To, 1 |
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Iridocyclitis, Bronchiectasis, Uveitis, Arthritis, Inflammation of the large intestine |
OMIM:181000 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Corneal opacity, Bacterial endocarditis |
ORPHA:2072 |
Cockayne Syndrome A |
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Hip contracture, Cataract, Limitation of joint mobility, Ivory epiphyses of the phalanges of the ... |
OMIM:216400 |
Infection-Related Hemolytic Uremic Syndrome |
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Pneumonia, Myocarditis, Septic arthritis, Pancreatitis, Acute colitis |
ORPHA:544482 |
Gitelman Syndrome |
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Rhabdomyolysis, Gout, Tubulointerstitial nephritis, Hashimoto thyroiditis, Chondrocalcinosis |
ORPHA:358 |
Digeorge Syndrome |
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Acne, Sclerocornea, Seborrheic dermatitis, Recurrent pneumonia, Patellar dislocation, Recurrent s... |
OMIM:188400 |
Gaisböck Syndrome |
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Cholecystitis, Gout |
ORPHA:90041 |
Tetrasomy 9P |
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Joint dislocation, Arthritis, Myositis, Pericarditis |
ORPHA:3310 |
Choreoacanthocytosis |
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Peroneal muscle atrophy, Arthritis, Distal amyotrophy, Myopathy, Muscle fiber atrophy |
ORPHA:2388 |
Microphthalmia, Syndromic 6 |
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Microcornea, Microphthalmia, Lambdoidal craniosynostosis, Sclerocornea |
OMIM:607932 |
Aspartylglucosaminuria |
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Macroglossia, Arthritis, Chronic otitis media, Joint stiffness |
ORPHA:93 |
Gaucher Disease, Type Iiic |
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Opacification of the corneal stroma |
OMIM:231005 |
Renal Cysts And Diabetes Syndrome |
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Gout |
OMIM:137920 |
Neurocardiofaciodigital Syndrome |
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Cataract, Sclerocornea |
OMIM:619869 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
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Recurrent skin infections, Eczema, Keratitis, Hip dislocation, Erythroderma, Opacification of the... |
OMIM:308205 |
Yunis-Varon Syndrome |
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Wide cranial sutures, Congenital hip dislocation, Cataract, Absent sternal ossification, Scleroco... |
OMIM:216340 |
Noonan Syndrome 1 |
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Cubitus valgus, Synovitis |
OMIM:163950 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
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Opacification of the corneal stroma |
ORPHA:79280 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
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Muscular dystrophy, Opacification of the corneal stroma |
OMIM:615287 |