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Gene: Col9a1 MGI:88465

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
collagen, type IX, alpha 1
Synonyms:
Col9a-1

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Col9a1 mutations

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

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

The table below shows human diseases associated to Col9a1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the knee, Abnormality of the epiphyses of the elbow, Abnormal patella morphology, ... ORPHA:166002
Epiphyseal Dysplasia, Multiple, 6
Abnormality of the knee, Flat distal femoral epiphysis, Flat capital femoral epiphysis, Osteoarth... OMIM:614135
Stickler Syndrome, Type Iv
Epiphyseal dysplasia, Flat capital femoral epiphysis, Sensorineural hearing impairment, Genu valg... OMIM:614134
Autosomal Recessive Stickler Syndrome
Epiphyseal dysplasia, Sensorineural hearing impairment, Genu valgum, Joint hyperflexibility, Abno... ORPHA:250984

The table below shows human diseases predicted to be associated to Col9a1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Osteoarthritis Susceptibility 1
Hip osteoarthritis OMIM:165720
Osteoarthritis Susceptibility 2
Osteoarthritis, Heberden's node OMIM:140600
Chondrocalcinosis 1
Osteoarthritis, Chondrocalcinosis OMIM:600668
Osteoarthritis Susceptibility 3
Osteoarthritis, Osteoarthritis of the distal interphalangeal joint, Osteoarthritis of the first c... OMIM:607850
Chondrocalcinosis 2
Arthropathy, Polyarticular chondrocalcinosis, Osteoarthritis OMIM:118600
Slipped Femoral Capital Epiphyses
Hip osteoarthritis OMIM:182260
Angel-Shaped Phalangoepiphyseal Dysplasia
Hip osteoarthritis, Hyperextensibility of the finger joints, Premature osteoarthritis, Delayed os... OMIM:105835
Glycoprotein Storage Disease
Gout OMIM:232900
Kienbock Disease
Osteoarthritis, Limitation of joint mobility, Osteochondritis dissecans, Abnormality of the wrist ORPHA:97332
Developmental Dysplasia Of The Hip 2
Hip osteoarthritis, Arthritis OMIM:615612
Peripheral Dysostosis
Hip osteoarthritis OMIM:170700
Beukes Hip Dysplasia
Flat capital femoral epiphysis, Avascular necrosis of the capital femoral epiphysis, Osteoarthrit... OMIM:142669
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Hip osteoarthritis, Osteoarthritis OMIM:271600
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul... OMIM:607078
Brachydactylous Dwarfism, Mseleni Type
Osteopenia, Increased inflammatory response, Protrusio acetabuli, Limitation of joint mobility, K... ORPHA:2619
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the knee, Abnormality of the epiphyses of the elbow, Abnormal patella morphology, ... ORPHA:166002
Multiple Epiphyseal Dysplasia Type 1
Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital... ORPHA:93308
Pseudoachondroplasia
Limited hip extension, Distal joint laxity, Osteoarthritis, Metaphyseal widening, Delayed epiphys... ORPHA:750
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae ORPHA:50809
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome
Osteoarthritis ORPHA:435804
Familial Calcium Pyrophosphate Deposition
Joint dislocation, Osteoarthritis, Limitation of joint mobility, Arthritis, Joint swelling, Chond... ORPHA:1416
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis OMIM:609655
Epiphyseal Dysplasia, Multiple, 6
Abnormality of the knee, Flat distal femoral epiphysis, Flat capital femoral epiphysis, Osteoarth... OMIM:614135
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... ORPHA:2114
Peripheral Dysostosis
Osteoarthritis, Joint stiffness ORPHA:1795
Epiphyseal Dysplasia, Multiple, 3
Epiphyseal dysplasia, Short metacarpal, Osteoarthritis, Limited elbow extension, Delayed epiphyse... OMIM:600969
Multiple Epiphyseal Dysplasia, Beighton Type
Osteoarthritis, Coxa vara, Double-layered patella, Abnormal hip joint morphology, Arthralgia of t... ORPHA:166011
Osteochondrosis Of The Metatarsal Bone
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... ORPHA:564003
Osteochondrosis Of The Tarsal Bone
Arthritis, Tarsal sclerosis, Tarsal stippling, Chondritis, Abnormal tarsal ossification, Osteocho... ORPHA:563991
Epiphyseal Dysplasia, Multiple, 1
Epiphyseal dysplasia, Short metacarpal, Joint stiffness, Avascular necrosis of the capital femora... OMIM:132400
Familial Avascular Necrosis Of Femoral Head
Hip osteoarthritis, Flattened femoral head, Limited hip movement, Abnormal femoral neck/head morp... ORPHA:86820
Osteoarthritis With Mild Chondrodysplasia
Hip osteoarthritis, Knee osteoarthritis, Heberden's node, Joint stiffness OMIM:604864
Ehlers-Danlos Syndrome, Hypermobility Type
Joint dislocation, Osteoarthritis, Joint hypermobility, Joint laxity OMIM:130020
Ankylosing Vertebral Hyperostosis With Tylosis
Osteoarthritis ORPHA:2206
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Tibiofibular diastasis, Joint stiffness... ORPHA:566943
Dysspondyloenchondromatosis
Joint dislocation, Enlarged joints, Osteoarthritis, Generalized joint laxity, Abnormal fibula mor... ORPHA:85198
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Enlarged epiphyses, Epiphyseal dysplasia, Sensorineural hearing impairment, Premature osteoarthritis OMIM:184840
Hypochondroplasia
Bowing of the long bones, Brachydactyly, Micromelia, Short toe, Osteoarthritis, Abnormality of th... ORPHA:429
Albers-Schönberg Osteopetrosis
Joint dislocation, Osteomyelitis, Recurrent fractures, Hearing impairment, Facial palsy, Mandibul... ORPHA:53
Angel-Shaped Phalango-Epiphyseal Dysplasia
Short middle phalanx of the 5th finger, Joint hyperflexibility, Hip dysplasia, Short middle phala... ORPHA:63442
Dysplasia Epiphysealis Hemimelica
Abnormal femoral neck morphology, Tarsal synostosis, Recurrent fractures, Joint stiffness, Osteoa... ORPHA:1822
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip contracture, Abnormality of the knee, Broad radial metaphysis, Protrusio acetabuli, Broad fem... ORPHA:99642
Epiphyseal Dysplasia, Multiple, 2
Epiphyseal dysplasia, Knee osteoarthritis, Genu varum, Flattened epiphysis, Irregular epiphyses, ... OMIM:600204
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Osteoarthritis, Sensorineural hearing impairment, Abnormal metacarpal morphology ORPHA:166100
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Micromelia, Osteoarthritis, Abnormal joint morphology, Abnormal carpal morpholo... ORPHA:93351
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Hip osteoarthritis OMIM:619248
Ulnar Hemimelia
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... ORPHA:93320
Spondylosis, Cervical
Osteoarthritis OMIM:184300
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Arthritis, Nephritis OMIM:216950
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Osteoarthritis, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bow... OMIM:602111
Cranio-Osteoarthropathy
Abnormality of the knee, Eczema, Joint stiffness, Osteoarthritis, Abnormal tibia morphology, Club... ORPHA:1525
Spondyloepimetaphyseal Dysplasia, Irapa Type
Metaphyseal dysplasia, Short metacarpal, Capitate-hamate fusion, Osteoarthritis, Short metatarsal... OMIM:271650
Progressive Pseudorheumatoid Dysplasia
Arthropathy, Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Joint ... OMIM:208230
Auditory Neuropathy, Autosomal Dominant 1
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... OMIM:609129
Multiple Epiphyseal Dysplasia Type 4
Abnormal hand morphology, Metaphyseal widening, Flexion contracture, Short metatarsal, Coxa vara,... ORPHA:93307
Spondyloepiphyseal Dysplasia, Kimberley Type
Osteoarthritis ORPHA:93283
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Broad hallux, Short thumb, Premature osteoarthritis, Hip osteoarthritis, Osteochondritis dissecan... OMIM:165800
Pseudoachondroplasia
Genu recurvatum, Limited hip extension, Osteoarthritis, Metaphyseal widening, Delayed epiphyseal ... OMIM:177170
Spondyloepimetaphyseal Dysplasia, Missouri Type
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... ORPHA:93356
Stickler Syndrome Type 1
Osteoarthritis, Sensorineural hearing impairment, Joint hyperflexibility, Abnormal epiphysis morp... ORPHA:90653
Multiple Epiphyseal Dysplasia Type 5
Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Abnormal upper li... ORPHA:93311
Congenital Pseudoarthrosis Of The Clavicle
Osteoarthritis ORPHA:66630
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Arthropathy, Generalized morning stiffness, Arthritis, Congenital finger flexion contractures, Co... OMIM:208250
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Short metacarpal, Enlarged joints, Sandal gap, Posteriorly rotated ears, Ab... ORPHA:1427
Spondyloepiphyseal Dysplasia, Nishimura Type
Osteoarthritis, Delayed epiphyseal ossification, Small hand, Cone-shaped epiphysis, Brachydactyly OMIM:618618
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Hallux valgus, Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the... OMIM:130060
Congenital Atransferrinemia
Arthritis ORPHA:1195
Progressive Osseous Heteroplasia
Osteoarthritis, Limitation of joint mobility, Ectopic ossification in muscle tissue, Brachydactyly ORPHA:2762
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Paget Disease Of Bone 6
Osteoarthritis, Recurrent fractures OMIM:616833
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Epiphyseal dysplasia, Mixed hearing impairment, Enlarged joints, Large tarsal bones, Sensorineura... OMIM:215150
Familial Digital Arthropathy-Brachydactyly
Osteoarthritis of the small joints of the hand, Brachydactyly, Shortening of all distal phalanges... ORPHA:85169
Desbuquois Dysplasia 1
Joint dislocation, Triangular shaped phalanges of the hand, Osteoarthritis, Metaphyseal widening,... OMIM:251450
Deafness, Autosomal Recessive 104
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... OMIM:616515
Spondyloepiphyseal Dysplasia Tarda
Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint, Limited e... ORPHA:93284
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Rickets, Trapezoi... OMIM:307800
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Facial palsy, Mandibular osteomyelitis, Fractures of the long bones, General... OMIM:166600
Hemophilia A
Osteoarthritis, Joint hemorrhage OMIM:306700
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Abnormal metatarsal morphology, Delayed epiphyseal ossification, Multiple joint dislocation, Gene... ORPHA:93360
Eng-Strom Syndrome
Arthritis, Camptodactyly of finger, Brachydactyly ORPHA:1937
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Osteopenia, Symmetric polyarthritis, Abnormal limb bone morphology, Limitation of joint mobility,... ORPHA:85435
Spondyloarthropathy, Susceptibility To, 1
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... OMIM:106300
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Increased inflammatory response, Pericarditis, Camptodactyly of finger, Wrist swelling, Polyartic... ORPHA:2848
Dermatoosteolysis, Kirghizian Type
Tarsal synostosis, Abnormality of the wrist, Keratitis, Osteoarthritis, Osteolysis, Abnormal diap... ORPHA:1657
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Talipes equinovarus, Abnormal auditory e... OMIM:601382
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Metaphyseal widening, Delayed epiphyseal ossification, Short met... ORPHA:93314
Legg-Calvé-Perthes Disease
Joint dislocation, Cartilage destruction ORPHA:2380
Hemophilia B
Osteoarthritis, Joint hemorrhage OMIM:306900
Stickler Syndrome, Type I
Arthropathy, Arachnodactyly, Joint stiffness, Osteoarthritis, Irregular femoral epiphysis, Sensor... OMIM:108300
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Osteoarthritis, Joint stiffness ORPHA:1345
Psoriasis 1, Susceptibility To
Arthritis, Psoriasiform dermatitis OMIM:177900
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Abnormal metacarpophalangeal joint morphology, Ankle swelling, Abnormal metatarsal morphology, Jo... ORPHA:85408
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Mucopolysaccharidosis, Type Ix
Hyperextensibility at elbow, Acetabular erosions, Periarticular soft-tissue mass, Synovitis, Hype... OMIM:601492
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Enthesitis-Related Juvenile Idiopathic Arthritis
Finger dactylitis, Abnormal metacarpophalangeal joint morphology, Anterior uveitis, Abnormal meta... ORPHA:85438
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Arthritis, Conjunctivitis OMIM:617772
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join... ORPHA:93405
Bullous Impetigo
Pustule, Recurrent bacterial skin infections, Septic arthritis ORPHA:36237
Blount Disease
Abnormality of the knee, Tibial bowing, Abnormal tibial metaphysis morphology, Abnormality of the... ORPHA:2768
Ehlers-Danlos Syndrome, Classic-Like, 2
Hallux valgus, Osteopenia, Osteoarthritis, Generalized joint laxity, Hip dislocation, Osteoporosi... OMIM:618000
Trichorhinophalangeal Syndrome, Type I
Osteopenia, Short metacarpal, Ivory epiphyses of the distal phalanges of the hand, Swelling of pr... OMIM:190350
Ehlers-Danlos Syndrome, Classic Type, 1
Joint dislocation, Hyperextensibility of the finger joints, Hyperextensibility of the knee, Osteo... OMIM:130000
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Osteoarthritis, Bronchiectasis, Decreased compound muscle action potential amplitude, Joint hyper... OMIM:620080
Laron Syndrome
Short toe, Osteoarthritis, Abnormality of the elbow, Brachydactyly ORPHA:633
Dracunculiasis
Recurrent cutaneous abscess formation, Skin rash, Flexion contracture, Limitation of joint mobili... ORPHA:231
Metaphyseal Chondrodysplasia, Schmid Type
Broad femoral neck, Distal tibial bowing, Metaphyseal chondrodysplasia, Metaphyseal widening, Met... OMIM:156500
Multicentric Reticulohistiocytosis
Arthritis ORPHA:139436
Neuropathy, Hereditary Sensory And Autonomic, Type V
Arthropathy, Osteomyelitis, Recurrent fractures, Osteoarthritis, Painless fractures due to injury... OMIM:608654
Kniest Dysplasia
Hip contracture, Enlarged joints, Rhizomelia, Dumbbell-shaped long bone, Tracheomalacia, Conducti... OMIM:156550
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Spondyloepimetaphyseal Dysplasia, Shohat Type
Joint laxity, Bowing of the legs, Metaphyseal widening, Premature osteoarthritis, Flared metaphys... ORPHA:93352
Vertical Talus, Congenital
Arthritis OMIM:192950
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Acne, Elbow flexion contracture, Knee flexion contracture, Sterile arthritis, Arthritis, Colitis,... OMIM:604416
Alpha-Mannosidosis
Bowing of the long bones, Macrotia, Arthritis, Hip dysplasia, Abnormal helix morphology, Hypoplas... ORPHA:61
Charcot-Marie-Tooth Disease, Type 4D
Claw hand deformity, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Ta... OMIM:601455
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros... ORPHA:85188
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Hypoplastic iliac wing, Limitation of joint mobility, Coxa vara, Irregular epiphyses, Short femor... OMIM:313400
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Recurrent fractures, Sensorineural hearing impairment, Increased susceptibility to fr... OMIM:615066
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... OMIM:127300
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Flat capital femoral ... OMIM:147891
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Cupped ear, Hand monodacty... OMIM:119100
Ollier Disease
Micromelia, Joint stiffness, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis... ORPHA:296
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari... OMIM:617519
Diarrhea 5, With Tufting Enteropathy, Congenital
Arthritis OMIM:613217
Morgagni-Stewart-Morel Syndrome
Vertigo, Osteoarthritis, Osteoporosis, Acne ORPHA:77296
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal wid... ORPHA:2502
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Arthritis, Limitation of joint mobility ORPHA:2582
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... OMIM:201250
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Joint stiffness, Metaphyseal widening, Coxa vara, Tibial bowing, Fe... OMIM:608940
Alkaptonuria
Joint dislocation, Joint stiffness, Cartilage destruction, Hearing abnormality, Osteoarthritis, R... ORPHA:56
Hemochromatosis, Type 4
Osteoarthritis OMIM:606069
Fibular Hemimelia
Bowing of the legs, Tibial bowing, Increased laxity of ankles, Foot oligodactyly, Abnormal bone o... ORPHA:93323
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bowing of the long bones, Bulging epiphyses, Rickets of the lower limbs, Delayed epiphyseal ossif... OMIM:600785
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Erythema nodosum, Sensorineural hearing impairment, Arthritis, Recurrent aphthous stom... OMIM:611762
Wild Type Abeta2M Amyloidosis
Arthropathy, Decreased nerve conduction velocity, Abnormal shoulder morphology, Arthritis, Decrea... ORPHA:85446
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Pelviscapular Dysplasia
Congenital hip dislocation, Short femur, Abnormal pinna morphology, Hearing impairment, Hypoplast... ORPHA:93333
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Arthritis, Otitis media, ... ORPHA:229717
Laurin-Sandrow Syndrome
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A... OMIM:135750
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,... OMIM:112910
Coronary Artery Disease, Autosomal Dominant 2
Osteoporosis, Gout OMIM:610947
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Arthritis, Conjunctivitis, Otitis media OMIM:601457
Felty Syndrome
Rheumatoid arthritis OMIM:134750
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Femoral bowing, Conductive hearing impairment, Broad di... OMIM:311300
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... ORPHA:988
Familial Cold Autoinflammatory Syndrome 1
Skin rash, Uveitis, Arthritis, Conjunctivitis, Hearing impairment OMIM:120100
Melioidosis
Foot osteomyelitis, Pneumonia, Osteoarthritis, Hepatitis, Acute infectious pneumonia, Septic arth... ORPHA:31202
Cinca Syndrome
Papilledema, Skin rash, Patellar overgrowth, Uveitis, Arthritis, Progressive sensorineural hearin... OMIM:607115
Papa Syndrome
Increased inflammatory response, Myositis, Acne, Pustule, Limitation of joint mobility, Arthritis... ORPHA:69126
Hunter-Macdonald Syndrome
Epiphyseal dysplasia, Metatarsus adductus, Conductive hearing impairment, Sensorineural hearing i... OMIM:611962
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme... ORPHA:52368
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphyseal widening, S... OMIM:608728
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... OMIM:166740
Immunodeficiency 61
Recurrent otitis media, Arthritis, Recurrent sinusitis OMIM:300310
Farber Lipogranulomatosis
Osteolysis involving bones of the feet, Hyperextensibility of the finger joints, Ulnar deviation ... OMIM:228000
Activated Pi3K-Delta Syndrome
Pneumonia, Bronchiectasis, Arthritis, Recurrent otitis media, Chronic sinusitis, Hearing impairment ORPHA:397596
Arthrogryposis, Distal, Type 2A
Joint dislocation, Hip contracture, Flexion contracture of finger, Rocker bottom foot, Abnormal a... OMIM:193700
Marshall Syndrome
Osteoarthritis, Sensorineural hearing impairment, Genu valgum ORPHA:560
X-Linked Hypophosphatemia
Shortening of the talar neck, Bowing of the long bones, Craniosynostosis, Bowing of the legs, Gen... ORPHA:89936
Marshall Syndrome
Radial bowing, Coxa valga, Hypoplastic ilia, Ulnar bowing, Knee osteoarthritis, Irregular femoral... OMIM:154780
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Hip dislocation, Abnormal auditory evoked potentials, Coxa valga OMIM:109120
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... ORPHA:320401
Idiopathic Non-Lupus Full-House Nephropathy
Skin rash, Glomerulonephritis, Synovitis, Arthritis, Serositis ORPHA:567544
Melorheostosis
Arthritis, Increased bone mineral density, Ectopic ossification in muscle tissue, Joint stiffness ORPHA:2485
Kniest Dysplasia
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... ORPHA:485
Oligoarticular Juvenile Idiopathic Arthritis
Knee osteoarthritis, Oligoarthritis, Uveitis, Abnormality of the ankle, Rheumatoid arthritis, Joi... ORPHA:85410
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
Familial Cold Urticaria
Arthritis, Sensorineural hearing impairment, Conjunctivitis ORPHA:47045
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... ORPHA:3344
Loeys-Dietz Syndrome 6
Hip osteoarthritis, Knee osteoarthritis, Arachnodactyly, Intervertebral disc degeneration OMIM:619656
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Osteomyelitis, Psoriasiform dermatitis, Acne, Skin rash, Abnormal sacroiliac joint morphology, Cr... ORPHA:324964
Systemic Lupus Erythematosus, Susceptibility To, 6
Arthritis, Pericarditis, Malar rash OMIM:609939
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormal auditory evoked potentials, Skin rash, Optic disc pallor, Broad finger OMIM:617523
Sydenham Chorea
Septic arthritis, Endocarditis ORPHA:306731
Zika Virus Disease
Maculopapular exanthema, Ankle swelling, Skin rash, Wrist swelling, Arthritis, Transient hearing ... ORPHA:448237
Muckle-Wells Syndrome
Episcleritis, Skin rash, Camptodactyly of finger, Optic atrophy, Uveitis, Arthritis, Conjunctivit... ORPHA:575
Multiple Osteochondromas
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... ORPHA:321
C1Q Deficiency 2
Chilblains, Discoid lupus rash, Bronchiectasis, Arthritis, Recurrent otitis media, Malar rash OMIM:620321
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Hypoplastic ... ORPHA:2347
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Mixed hearing impairment, Recurrent fractures, Osteoporosis, Femoral bowing OMIM:126550
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Short femur, Rhizomelia, Hypoplastic scapulae, Dumbbell-shaped long bone, Micromelia, Metaphyseal... ORPHA:440354
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Roifman-Chitayat Syndrome
Osteopenia, Short metacarpal, Pneumonia, Short metatarsal, Optic atrophy, Cone-shaped epiphysis, ... OMIM:613328
Microcephaly, Short Stature, And Limb Abnormalities
Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Patellar hypoplasia,... OMIM:617604
Larsen-Like Syndrome, Lethal Type
Joint dislocation, Multiple joint dislocation, Abnormal cartilage matrix, Tracheomalacia OMIM:245650
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Shox-Related Short Stature
Madelung deformity, Tibial bowing, Short foot, Genu valgum, Forearm undergrowth, Lower limb under... ORPHA:314795
Loeys-Dietz Syndrome 5
Arachnodactyly, Eosinophilic infiltration of the esophagus, Osteoarthritis, Talipes equinovarus, ... OMIM:615582
Vexas Syndrome
Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Chondritis of pinna,... OMIM:301054
Autosomal Agammaglobulinemia
Osteomyelitis, Sinusitis, Skin rash, Recurrent skin infections, External ear malformation, Bronch... ORPHA:33110
Osteogenesis Imperfecta
Osteopenia, Micromelia, Abnormal tibia morphology, Osteoarthritis, Flexion contracture, Abnormal ... ORPHA:666
Nail-Patella Syndrome
Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology, Patellar hypoplasia, K... ORPHA:2614
Osteogenesis Imperfecta, Type Xiii
Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Hearing i... OMIM:614856
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal frac... OMIM:259420
Osteogenesis Imperfecta, Type I
Osteopenia, Otosclerosis, Recurrent fractures, Femoral bowing, Increased susceptibility to fractu... OMIM:166200
Vitamin D-Dependent Rickets, Type 2A
Enlargement of the ankles, Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiost... OMIM:277440
Atelosteogenesis, Type Ii
Sandal gap, Micromelia, Bifid humerus, Lacunar halos around chondrocytes, Flat acetabular roof, S... OMIM:256050
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Ulnar bow... OMIM:211350
Paget Disease Of Bone 2, Early-Onset
Bowing of the long bones, Short femur, Fractures of the long bones, Osteolysis, Femoral bowing, I... OMIM:602080
Osteogenesis Imperfecta, Type Iv
Otosclerosis, Recurrent fractures, Increased susceptibility to fractures, Reduced bone mineral de... OMIM:166220
Grant Syndrome
Wormian bones, Down-sloping shoulders, Tibial bowing OMIM:138930
Sjogren Syndrome
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid arthritis OMIM:270150
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Decreased nerve conduction velocity, Arthritis, Bilateral sensorineural hearing impairment ORPHA:397744
Microphthalmia With Limb Anomalies
Toe syndactyly, Sandal gap, Posteriorly rotated ears, Capitate-hamate fusion, 2-3 toe cutaneous s... OMIM:206920
Achalasia, Familial Esophageal
Keratoconjunctivitis sicca, Rheumatoid arthritis OMIM:200400
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Enlargement of the ankles, Bulging epiphyses, Recurrent fractures, Bowing of the legs, Enlargemen... OMIM:600081
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Osteomyelitis, Sinusitis, Skin rash, Sensorineural hearing... ORPHA:47
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Nephritis, Gout OMIM:162000
Lesch-Nyhan Syndrome
Gout ORPHA:510
Meier-Gorlin Syndrome 5
Prominent metopic ridge, Small earlobe, Elbow dislocation, Irregular femoral epiphysis, Patellar ... OMIM:613805
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Hypoplasia of the radius, Madelung deformity, Short femora... OMIM:249700
Blau Syndrome
Nongranulomatous uveitis, Pericarditis, Camptodactyly of finger, Eczema, Erythema nodosum, Abnorm... OMIM:186580
Bruck Syndrome 2
Osteopenia, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Femoral bow... OMIM:609220
Systemic Lupus Erythematosus
Pericarditis, Lupus nephritis, Arthritis, Malar rash, Nephritis OMIM:152700
Meier-Gorlin Syndrome 1
Genu recurvatum, Flexion contracture, Flat glenoid fossa, Cutaneous finger syndactyly, Short palm... OMIM:224690
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Osteopenia, Short fourth metatarsal, Tibial metaphyseal irregularity, Abnormality of the ear, Cox... ORPHA:457395
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Bowing of the long bones, Recurrent fractures, Small abnormal... ORPHA:140
Keutel Syndrome
Optic atrophy, Calcification of cartilage, Recurrent sinusitis, Recurrent otitis media, Short dis... ORPHA:85202
Stickler Syndrome
Joint dislocation, Arachnodactyly, Protrusio acetabuli, Osteoarthritis, Sensorineural hearing imp... ORPHA:828
Achondroplasia
Brachydactyly, Radial bowing, Rhizomelia, Short femur, Limited hip extension, Bowing of the legs,... OMIM:100800
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Micromelia, Hearing impairment, Joint stiffness, Abnormal ... ORPHA:1860
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Arthropathy, Osteopenia, Papilledema, Abnormal hand morphology, Sclerotic cranial sutures, Osteol... ORPHA:371428
Genitopatellar Syndrome
Hip contracture, Hypoplastic ilia, Patellar aplasia, Knee flexion contracture, Radioulnar synosto... ORPHA:85201
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f... OMIM:210720
Congenital Insensitivity To Pain With Severe Intellectual Disability
Osteomyelitis, Recurrent fractures, Rocker bottom foot, Keratitis, Multifocal epileptiform discha... ORPHA:453510
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Septic arthritis, Recurrent pneumonia, Eczema, Hearing impairment OMIM:617780
Felty Syndrome
Episcleritis, Pericarditis, Sinusitis, Abnormal joint morphology, Limitation of joint mobility, R... ORPHA:47612
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Osteopenia, Short metacarpal, Short fourth metatarsal, Overlapping toe, Craniosynostosis, Femoral... OMIM:616723
Meier-Gorlin Syndrome 2
Abnormal pinna morphology, Patellar aplasia, Slender long bone, Microtia, Camptodactyly, Tracheom... OMIM:613800
Atelosteogenesis, Type Iii
Radial bowing, Rhizomelia, Sandal gap, Elbow dislocation, Tombstone-shaped proximal phalanges, Fl... OMIM:108721
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... OMIM:607778
Psoriasis-Related Juvenile Idiopathic Arthritis
Finger dactylitis, Abnormality of the knee, Anterior uveitis, Psoriasiform dermatitis, Generalize... ORPHA:85436
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Arthropathy, Osteopenia, Seborrheic dermatitis, Limitation of joint mobility, Clubbing, Osteoporo... OMIM:259100
Atelosteogenesis, Type I
Short metatarsal, Tibial bowing, Knee dislocation, Short metacarpal, Radial bowing, Club-shaped p... OMIM:108720
Nail-Patella Syndrome
Glenoid fossa hypoplasia, Glomerulonephritis, Sensorineural hearing impairment, Patellar aplasia,... OMIM:161200
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... ORPHA:93322
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Spondylometaphyseal Dysplasia, Pagnamenta Type
Rhizomelia, Femoral bowing, Wormian bones, Short 4th metacarpal, Broad thumb, Short 5th metacarpal OMIM:619638
Deafness, Autosomal Dominant 9
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... OMIM:601369
Gaucher Disease Type 1
Osteopenia, Increased bone mineral density, Osteoarthritis, Osteolysis, Pathologic fracture ORPHA:77259
Meier-Gorlin Syndrome 4
Genu recurvatum, Patellar aplasia, Slender long bone, Microtia, Low-set ears OMIM:613804
Mosaic Trisomy 8
Abnormal pinna morphology, Camptodactyly of finger, Patellar aplasia, Limitation of joint mobilit... ORPHA:96061
Autosomal Dominant Spastic Paraplegia Type 36
Arthritis ORPHA:320365
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Avascular necrosis of the capital femoral epiphysis, Arthritis, Cervical subluxation OMIM:184100
Pfapa Syndrome
Arthritis, Infectious encephalitis ORPHA:42642
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Arthritis, Crescentic glomerulonephritis OMIM:616414
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Flexion contracture, Knee flexion contracture, Intercrural pterygium... OMIM:265000
Abcd Syndrome
Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Heari... OMIM:600501
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Irregular epiphyses, Sensorineural hearing impairment, Optic disc pallor, Abnormal auditory evoke... OMIM:619260
Sapho Syndrome
Psoriasiform dermatitis, Acne, Recurrent fractures, Osteomyelitis, Skin rash, Pustule, Abnormal s... ORPHA:793
Patella Aplasia-Hypoplasia
Patellar aplasia, Patellar hypoplasia OMIM:168860
Hypophosphatemic Rickets, X-Linked Recessive
Enlargement of the ankles, Bulging epiphyses, Osteomalacia, Recurrent fractures, Bowing of the le... OMIM:300554
Idiopathic Camptocormia
Abnormal inflammatory response, Myositis, Osteoarthritis, Myelitis ORPHA:1320
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Enlargement of the ankles, Bulging epiphyses, Recurrent fractures, Bowing of the legs, Enlargemen... OMIM:241530
Dyggve-Melchior-Clausen Disease
Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bowing, Narrow... OMIM:223800
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Osteoarthritis, Long ear OMIM:619714
Mucopolysaccharidosis Type 2
Otosclerosis, Papilledema, Decreased nerve conduction velocity, Conductive hearing impairment, Se... ORPHA:580
Anauxetic Dysplasia 3
Short metacarpal, Joint hypermobility, Hip subluxation, Squared iliac bones, Femoral bowing, Genu... OMIM:618853
Moderate Hemophilia A
Arthropathy, Hip contracture, Cartilage destruction, Limitation of joint mobility, Synovitis, Joi... ORPHA:169805
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Arthritis, Sensorineural hearing impairment, Gout ORPHA:411543
Brucellosis
Anterior uveitis, Pericarditis, Osteomyelitis, Pneumonia, Glomerulonephritis, Abnormality of the ... ORPHA:1304
Schnitzler Syndrome
Arthritis, Increased bone mineral density, Skin rash ORPHA:37748
Hypocomplementemic Urticarial Vasculitis
Joint dislocation, Episcleritis, Skin rash, Sensorineural hearing impairment, Uveitis, Arthritis,... ORPHA:36412
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Knee flexion contracture, Phocomeli... ORPHA:3103
Majeed Syndrome
Increased bone mineral density, Osteomyelitis, Acne, Inflammatory abnormality of the skin, Pustul... ORPHA:77297
Microphthalmia With Limb Anomalies
Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge... ORPHA:1106
Interstitial Granulomatous Dermatitis With Arthritis
Inflammatory abnormality of the skin, Rheumatoid arthritis ORPHA:79099
Antley-Bixler Syndrome
Low-set, posteriorly rotated ears, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Rec... ORPHA:83
Rheumatoid Arthritis
Swan neck-like deformities of the fingers, Joint stiffness, Joint swelling, Polyarticular arthrit... OMIM:180300
Adult-Onset Still Disease
Pericarditis, Skin rash, Cartilage destruction, Myocarditis, Hepatitis, Joint swelling, Arthritis ORPHA:829
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Pyoderma, Conjunctivitis,... OMIM:307200
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Coxa vara, Tibial bowing, Protruding ear, Reduced bone mineral density, Abnormal bone ossificatio... ORPHA:93315
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Arthritis, Sensorineural hearing impairment ORPHA:411536
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Enlargement of the ankles, Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiost... OMIM:264700
Acromegaly
Acne, Macrodactyly, Tapered finger, Osteoarthritis, Macrotia, Joint swelling, Large hands, Cortic... ORPHA:963
Kid Syndrome
Angular cheilitis, Equinus calcaneus, Posterior blepharitis, Prelingual sensorineural hearing imp... ORPHA:477
Gaucher Disease
Joint dislocation, Osteopenia, Increased bone mineral density, Osteomyelitis, Recurrent fractures... ORPHA:355
Yao Syndrome
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Arthritis, Keratoconjunctivitis sicca OMIM:617321
Caffey Disease
Tibial bowing, Periosteal thickening of long tubular bones, Joint hypermobility, Bowing of the legs OMIM:114000
Eosinophilic Fasciitis
Arthritis, Fasciitis, Myositis ORPHA:3165
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Pneumonia, Erythema nodosum, Recurrent pneumonia, Bronchiectasis, Uveitis, Th... OMIM:614700
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... ORPHA:1215
Hypermobile Ehlers-Danlos Syndrome
Joint dislocation, Elbow dislocation, Decreased nerve conduction velocity, Osteoarthritis, Vertig... ORPHA:285
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent otitis media, Arthritis, Recurrent sinusitis, Membranous nephropathy OMIM:615559
Trisomy 10P
Thumb contracture, Wide cranial sutures, Posteriorly rotated ears, Abnormal auditory evoked poten... ORPHA:171929
Rat-Bite Fever
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... ORPHA:31205
Mesomelia-Synostoses Syndrome
Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Hearing impairment, Short me... OMIM:600383
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Arachnodactyly, Rocker bottom foot, Abnormal pinna morphology, Ulnar bowing, Humeroradial synosto... OMIM:207410
Aneurysm-Osteoarthritis Syndrome
Joint laxity, Osteoarthritis of the small joints of the hand, Arachnodactyly, Protrusio acetabuli... ORPHA:284984
Immunodeficiency 68
Lymphadenitis, Recurrent skin infections, Septic arthritis OMIM:612260
Hemochromatosis, Type 2A
Arthritis OMIM:602390
Somatomammotropinoma
Macrodactyly, Tapered finger, Osteoarthritis, Macrotia, Joint swelling, Large hands, Cortical dia... ORPHA:314769
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Joint dislocation, Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing,... OMIM:618019
Familial Mediterranean Fever
Pericarditis, Skin rash, Orchitis, Osteoarthritis, Peritonitis, Arthritis, Erysipelas, Pancreatitis ORPHA:342
Pachydermoperiostosis
Osteomyelitis, Acne, Seborrheic dermatitis, Limitation of joint mobility, Small hand, Osteoporosi... ORPHA:2796
Stuve-Wiedemann Syndrome 1
Enlarged joints, Tibial bowing, Knee flexion contracture, Femoral bowing, Short tibia, Short phal... OMIM:601559
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Recurrent fractures, Multiple prenatal fractures, Absent o... OMIM:166210
Stickler Syndrome, Type Iv
Epiphyseal dysplasia, Flat capital femoral epiphysis, Sensorineural hearing impairment, Genu valg... OMIM:614134
Hutchinson-Gilford Progeria Syndrome
Limitation of movement at ankles, High-frequency sensorineural hearing impairment, Coxa valga, Li... ORPHA:740
Fryns-Smeets-Thiry Syndrome
Joint hyperflexibility, Patellar aplasia, Arachnodactyly, Hip dislocation ORPHA:2058
Graft Versus Host Disease
Fasciitis, Myositis, Acute hepatitis, Dupuytren contracture, Limited elbow movement, Maculopapula... ORPHA:39812
Meier-Gorlin Syndrome 3
Absent sternal ossification, Posteriorly rotated ears, Aplasia/Hypoplasia of the patella, Patella... OMIM:613803
Spondylometaphyseal Dysplasia, Sedaghatian Type
Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short phalanx of fing... OMIM:250220
Periodic Fever, Familial, Autosomal Dominant
Myositis, Skin rash, Maculopapular exanthema, Oligoarthritis, Polyarticular arthritis, Conjunctiv... OMIM:142680
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Joint dislocation, Arthropathy, Genu recurvatum, Limited hip extension, Flexion contracture, Tibi... OMIM:143095
Wilson Disease
Osteomalacia, Decreased nerve conduction velocity, Osteoarthritis, Atypical or prolonged hepatiti... OMIM:277900
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phocomelia, Short p... OMIM:274000
Relapsing Polychondritis
Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Vertigo, Sensorineural h... ORPHA:728
Psoriasis 14, Pustular
Psoriasiform dermatitis, Cholangitis, Pustule, Oligoarthritis, Polyarticular arthritis OMIM:614204
Spondyloepimetaphyseal Dysplasia, X-Linked
Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Joint laxity, Ra... OMIM:300106
Hemochromatosis, Type 3
Arthritis OMIM:604250
Acheiropody
Carpal bone aplasia, Short humerus, Aplasia of the phalanges of the hand, Aplasia of the ulna, Ab... OMIM:200500
Combined Oxidative Phosphorylation Deficiency 53
Arthritis, Osteomyelitis, Septic arthritis OMIM:619423
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, 2-3 toe cutaneous syndactyly, Knee flexion contracture, Femoral bowing,... OMIM:600920
Meier-Gorlin Syndrome 6
Sandal gap, Posteriorly rotated ears, Tracheobronchomalacia, Patellar aplasia, Hip dysplasia, Mic... OMIM:616835
Ear-Patella-Short Stature Syndrome
Microtia, third degree, Posteriorly rotated ears, Camptodactyly of finger, Craniosynostosis, Apla... ORPHA:2554
Dent Disease 1
Enlargement of the ankles, Bulging epiphyses, Osteomalacia, Recurrent fractures, Bowing of the le... OMIM:300009
Recombinant 8 Syndrome
Camptodactyly of finger, Patellar aplasia, Low-set ears, Clinodactyly of the 5th finger, Abnormal... ORPHA:96167
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Short metacarpal, Abnormal cartilage matrix, Epiphyseal stippling, Talipes equinovarus, Arthrogry... ORPHA:86822
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Proximal phalangeal periosteal thickening, Clubbing, Osteolytic defects of the phalanges of the h... OMIM:161700
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Abnormal fibula morpholog... ORPHA:3035
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Osteopenia, Chronic oral candidiasis, Psoriasiform dermatitis, Optic nerve hypoplasia, Clinodacty... ORPHA:221139
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,... ORPHA:101085
Anti-Glomerular Basement Membrane Disease
Arthritis ORPHA:375
Proteasome-Associated Autoinflammatory Syndrome 3
Myositis, Sinusitis, Skin rash, Flexion contracture, Arthritis, Finger swelling, Panniculitis, Co... OMIM:617591
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Gout OMIM:618061
Lyme Disease
Arthritis, Infectious encephalitis, Joint swelling, Uveitis ORPHA:91546
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Bowing of the long bones, Recurrent fractures, Joint hypermobility, Femoral bowing,... OMIM:617952
Spondyloenchondrodysplasia
Metaphyseal dysplasia, Skin rash, Pneumonia, Bowing of the legs, Hypoplastic ilia, Hepatitis, Art... ORPHA:1855
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Bronchiectasis, Arthritis, Crohn's disease OMIM:616100
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Autosomal Recessive Hypophosphatemic Rickets
Increased bone mineral density, Osteomalacia, Craniosynostosis, Rickets of the lower limbs, Abnor... ORPHA:289176
9Q33.3Q34.11 Microdeletion Syndrome
Prominent metopic ridge, Abnormal pinna morphology, Patellar aplasia, Patellar hypoplasia, Fixed ... ORPHA:495818
Complement Factor I Deficiency
Recurrent skin infections, Glomerulonephritis, Pyelonephritis, Recurrent sinusitis, Recurrent oti... OMIM:610984
Scedosporiosis
Pericarditis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Pneumonia, Endocarditis, Septic art... ORPHA:449280
Classical Ehlers-Danlos Syndrome
Osteopenia, Orthostatic hypotension, Phalangeal dislocation, Osteoarthritis, Generalized joint la... ORPHA:287
Symptomatic Form Of Hfe-Related Hemochromatosis
Arthropathy, Abnormal metacarpophalangeal joint morphology, Joint stiffness, Osteoporosis, Joint ... ORPHA:465508
Marfan Syndrome
Arachnodactyly, Genu recurvatum, Protrusio acetabuli, Equinus calcaneus, Metatarsus adductus, Pre... OMIM:154700
Hypocalcemic Vitamin D-Dependent Rickets
Enlargement of the ankles, Wide cranial sutures, Osteomalacia, Irregular, rachitic-like metaphyse... ORPHA:289157
Takayasu Arteritis
Arthritis, Increased inflammatory response, Inflammatory abnormality of the eye ORPHA:3287
Osteogenesis Imperfecta, Type Viii
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers... OMIM:610915
Cartilage-Hair Hypoplasia
Micromelia, Metaphyseal chondrodysplasia, Tibial bowing, Abnormal bone ossification, Short palm, ... ORPHA:175
Reactive Arthritis
Pericarditis, Osteomyelitis, Joint stiffness, Cartilage destruction, Pustule, Enthesitis, Arthrit... ORPHA:29207
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Joint contracture, Optic atrophy OMIM:616881
Alkaptonuria
Arthropathy, Vertebral fusion, Limited shoulder movement, Arthritis, Limited hip movement, Limita... OMIM:203500
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... OMIM:613091
Orofaciodigital Syndrome Vi
Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxial polydactyly, Po... OMIM:277170
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Myositis, Fasciitis, Pericarditis, Skin rash, Orchitis, Abnormal sacroiliac joint morphology, Ver... ORPHA:32960
Overlap Myositis
Subluxation of the small joints of the hand, Finger swelling, Rheumatoid arthritis, Arthritis ORPHA:206572
Spondyloenchondrodysplasia With Immune Dysregulation
Metaphyseal dysplasia, Pneumonia, Short iliac bones, Metaphyseal sclerosis, Metaphyseal widening,... OMIM:607944
Giant Cell Arteritis
Pericarditis, Joint stiffness, Vertigo, Optic atrophy, Arthritis, Conductive hearing impairment, ... ORPHA:397
Insulin-Resistance Syndrome Type B
Skin rash, Osteoarthritis, Nephritis, Pneumonia ORPHA:2298
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Viral hepatitis, Psoriasiform dermatitis, Skin rash, Cholangitis, Pneumonia, A... ORPHA:183675
Cerebrotendinous Xanthomatosis
Osteopenia, Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased n... ORPHA:909
Atelosteogenesis Type Iii
Absent humerus, Ulnar deviation of the wrist, Epiphyseal stippling of the humerus, Short tubular ... ORPHA:56305
Bent Bone Dysplasia Syndrome 2
Osteopenia, Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Decreased c... OMIM:620076
Fusariosis
Fasciitis, Sinusitis, Osteomyelitis, Myositis, Maculopapular exanthema, Pneumonia, Keratitis, Per... ORPHA:228119
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Atopic dermatitis, Vestibular areflexia, Osteopetrosis ORPHA:3240
Campomelic Dysplasia
Anterior tibial bowing, Delayed epiphyseal ossification, Patellar hypoplasia, Femoral bowing, Tib... OMIM:114290
Loeys-Dietz Syndrome 3
Joint laxity, Arachnodactyly, Protrusio acetabuli, Craniosynostosis, Eosinophilic infiltration of... OMIM:613795
Autosomal Dominant Dopa-Responsive Dystonia
Paresis of extensor muscles of the big toe, Progressive flexion contractures, Talipes equinovarus... ORPHA:98808
Behcet Syndrome
Erythema nodosum, Iridocyclitis, Epididymitis, Arthritis, Iritis OMIM:109650
Coccidioidomycosis
Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Morbilliform rash, Erythema nodosum, Peritonit... ORPHA:228123
Autoimmune Hepatitis
Viral hepatitis, Glomerulonephritis, Fulminant hepatitis, Thyroiditis, Ulcerative colitis, Arthri... ORPHA:2137
Farber Disease
Abnormality of the knee, Short toe, Abnormality of the elbow, Flexion contracture, Osteoporosis, ... ORPHA:333
Diffuse Cutaneous Systemic Sclerosis
Narrow foramen obturatorium, Arthritis, Flexion contracture, Osteolysis ORPHA:220393
Autosomal Recessive Stickler Syndrome
Epiphyseal dysplasia, Sensorineural hearing impairment, Genu valgum, Joint hyperflexibility, Abno... ORPHA:250984
Microscopic Polyangiitis
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Peritonitis, U... ORPHA:727
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Geroderma Osteodysplasticum
Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Osteoporosis, Tibial bo... OMIM:231070
Penoscrotal Transposition
Clinodactyly of the 5th finger, Patellar aplasia ORPHA:2842
Lacrimoauriculodentodigital Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, Mixed hearing impairment, Duplication of thumb pha... ORPHA:2363
Premature Aging Syndrome, Penttinen Type
Brachydactyly, Recurrent fractures, Hyperextensibility of the knee, Sensorineural hearing impairm... OMIM:601812
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Gout OMIM:617056
Mixed Connective Tissue Disease
Myositis, Pericarditis, Skin rash, Gastritis, Joint stiffness, Myocarditis, Osteolysis, Arthritis... ORPHA:809
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Pneumonia, Osteomyelitis, Skin rash, Glomerulonephritis, Recurren... ORPHA:36234
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... ORPHA:206436
Acrofacial Dysostosis, Cincinnati Type
Femoral bowing, Anotia, Microtia, Flared lower limb metaphysis, Acetabular dysplasia, Macrotia OMIM:616462
Aortic Aneurysm, Familial Thoracic 12
Arthritis OMIM:619825
Melnick-Needles Syndrome
Short humerus, Hypoplastic scapulae, Coxa valga, Flared metaphysis, Hip dislocation, Osteolytic d... OMIM:309350
Wilson Disease
Hepatitis, Arthritis, Joint swelling, Acute hepatitis, Pathologic fracture ORPHA:905
Baller-Gerold Syndrome
Limited elbow movement, Patellar hypoplasia, Conductive hearing impairment, Hypoplasia of the uln... OMIM:218600
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Femoral bowing, Foot oligodactyly, Long ear, Aplasia/Hypoplasia of the tarsal bones, Phocomelia, ... OMIM:276820
Late-Infantile/Juvenile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... ORPHA:206443
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Short metatarsal, Tibial bowing, Femoral bowing, C... OMIM:304120
Lethal Congenital Contracture Syndrome 10
Stiff neck, Femoral bowing, Short long bone, Talipes equinovarus, Low-set ears, Overlapping finge... OMIM:617022
Rothmund-Thomson Syndrome Type 2
Joint dislocation, Osteopenia, Short metacarpal, Aplasia/hypoplasia involving bones of the upper ... ORPHA:221016
Mend Syndrome
Overlapping toe, Broad hallux, Abnormal auditory evoked potentials, Long fingers, 2-3 toe syndact... ORPHA:401973
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, Abnormal auditory evoked potentials, Abnormality of somatosensory evoked... ORPHA:99027
Hyperuricemia, Hprt-Related
Podagra OMIM:300323
Medullary cystic kidney disease 2
Tubulointerstitial nephritis, Gout OMIM:603860
Osteogenesis Imperfecta, Type X
Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Micromelia, Generali... OMIM:613848
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Eczema, Hepatitis, Arthritis, Erythroderma OMIM:304790
Hyperimmunoglobulinemia D With Periodic Fever
Arthritis, Peritonitis, Limitation of joint mobility, Recurrent aphthous stomatitis ORPHA:343
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, Bronchiectasis, Pyoderma, ... OMIM:300755
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micromelia, Bowing of the legs, Knee flexion contracture, Triangular shaped distal phalanges of t... OMIM:271665
Hyperparathyroidism, Transient Neonatal
Osteopenia, Wide cranial sutures, Short femur, Metaphyseal spurs, Recurrent fractures, Femoral bo... OMIM:618188
Rheumatic Fever
Pericarditis, Sinusitis, Myocarditis, Endocarditis, Arthritis ORPHA:3099
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Foot joint contracture, Optic atrophy, Uveitis, Conjunctivit... ORPHA:90321
Severe Hemophilia A
Limb joint contracture, Limitation of joint mobility, Synovitis, Joint swelling, Progressive join... ORPHA:169802
Localized Scleroderma
Fasciitis, Flexion contracture, Uveitis, Arthritis, Esophagitis, Sclerosis of finger phalanx, Has... ORPHA:90289
Reynolds Syndrome
Skin rash, Arthritis, Keratoconjunctivitis sicca, Infectious encephalitis ORPHA:779
Cockayne Syndrome A
Hip contracture, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve ... OMIM:216400
Pyoderma Gangrenosum
Pustule, Myositis, Rheumatoid arthritis, Inflammation of the large intestine ORPHA:48104
Hyper-Igd Syndrome
Optic disc pallor, Skin rash, Lymphadenitis, Vertigo, Arthritis, Chronic oral candidiasis, Serositis OMIM:260920
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Cockayne Syndrome B
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... OMIM:133540
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu... OMIM:615503
Oncogenic Osteomalacia
Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Abnormal femur morphology, Abno... ORPHA:352540
Mogs-Cdg
Overlapping fingers, Sensorineural hearing impairment, Optic atrophy, Absent brainstem auditory r... ORPHA:79330
Immunodeficiency 85 And Autoimmunity
Oligoarthritis, Eczema, Erythroderma OMIM:619510
Adiposis Dolorosa
Arthritis, Recurrent skin infections ORPHA:36397
Generalized Pustular Psoriasis
Pustule, Cheilitis, Uveitis, Arthritis, Palmoplantar pustulosis, Erythroderma ORPHA:247353
Systemic Sclerosis
Abnormal phalangeal joint morphology of the hand, Pericarditis, Osteomyelitis, Recurrent skin inf... ORPHA:90291
Cryoglobulinemic Vasculitis
Arthritis, Keratoconjunctivitis sicca, Viral hepatitis ORPHA:91138
Dowling-Degos Disease
Arthritis, Acne inversa ORPHA:79145
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Tibial bowing, Metaphyseal chondrodysplasia, Fibular bowing, Femoral bowing ORPHA:85165
Mucopolysaccharidosis Type 2, Severe Form
Otosclerosis, Papilledema, Camptodactyly of finger, Sensorineural hearing impairment, Flexion con... ORPHA:217085
Rothmund-Thomson Syndrome Type 1
Osteopenia, Short metacarpal, Metaphyseal sclerosis, Patellar aplasia, Finger symphalangism, Pate... ORPHA:221008
Eosinophilic Granulomatosis With Polyangiitis
Increased inflammatory response, Myositis, Sinusitis, Skin rash, Myocarditis, Endocarditis, Arthr... ORPHA:183
Mucopolysaccharidosis Type 2, Attenuated Form
Otosclerosis, Papilledema, Camptodactyly of finger, Sensorineural hearing impairment, Flexion con... ORPHA:217093
Pediatric Systemic Lupus Erythematosus
Myositis, Skin rash, Discoid lupus rash, Arthritis, Malar rash, Nephritis ORPHA:93552
Polymyositis
Arthritis, Pericarditis, Chondrocalcinosis ORPHA:732
Whipple Disease
Myositis, Pericarditis, Myocarditis, Uveitis, Arthritis, Infectious encephalitis ORPHA:3452
Phosphoribosylpyrophosphate Synthetase Superactivity
Low-set ears, Sensorineural hearing impairment, Gout, Hearing impairment OMIM:300661
Listeriosis
Pericarditis, Stiff neck, Osteomyelitis, Pneumonia, Pustule, Myocarditis, Peritonitis, Endocardit... ORPHA:533
Congenital Tufting Enteropathy
Arthritis, Punctate keratitis, Optic disc coloboma ORPHA:92050
Fabry Disease
Vertigo, Sensorineural hearing impairment, Optic atrophy, Abnormal femur morphology, Reduced bone... ORPHA:324
Hereditary Xanthinuria
Arthropathy, Rheumatoid arthritis, Gout ORPHA:3467
Chikungunya
Maculopapular exanthema, Skin rash, Joint stiffness, Erythema nodosum, Crusting erythematous derm... ORPHA:324625
Glycogen Storage Disease Vii
Gout OMIM:232800
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Wide distal femoral metaphysis, Postaxial hand polydactyly, Apla... OMIM:269150
Oculocerebrorenal Syndrome Of Lowe
Low-set, posteriorly rotated ears, Osteomalacia, Recurrent fractures, Joint stiffness, Hip disloc... ORPHA:534
Vascular Ehlers-Danlos Syndrome
Joint dislocation, Congenital hip dislocation, Osteoarthritis, Vertigo, Aplasia/Hypoplasia of the... ORPHA:286
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Abnormal thumb morphology, Metatarsus adductus, Sensorineural hearing impairment, Tibial bowing, ... ORPHA:500095
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Skin rash, Eczema, Erythema nodosum, Optic atrophy, Arthritis, Panniculitis, Recurrent sinusitis,... OMIM:615688
Riddle Syndrome
Pneumonia, Recurrent pneumonia, Arthritis, Otitis media, Recurrent sinusitis, Chronic sinusitis ORPHA:420741
22Q11.2 Deletion Syndrome
Arachnodactyly, Aganglionic megacolon, Acne, Seborrheic dermatitis, Optic atrophy, Overfolded hel... ORPHA:567
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Arthritis, Joint hyperflexibility, Hearing impairment ORPHA:93111
Immunodeficiency 82 With Systemic Inflammation
Osteomyelitis, Skin rash, Osteomalacia, Pneumonia, Recurrent skin infections, Gastritis, Bronchie... OMIM:619381
Behçet Disease
Increased inflammatory response, Myositis, Pericarditis, Acne, Orchitis, Retrobulbar optic neurit... ORPHA:117
Sweet Syndrome
Predominantly dermal neutrophilic infiltrate, Myositis, Acne, Pustule, Oligoarthritis, Inflammati... ORPHA:3243
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Swelling of proximal interphalangeal joints, Ankle swelling... ORPHA:3260
Genitopatellar Syndrome
Hip contracture, Congenital hip dislocation, Hearing impairment, Patellar aplasia, Knee flexion c... OMIM:606170
Shigellosis
Pneumonia, Myocarditis, Peritonitis, Uveitis, Ulcerative colitis, Arthritis, Conjunctivitis, Acut... ORPHA:810
Blau Syndrome
Pericarditis, Skin rash, Camptodactyly of finger, Facial palsy, Keratitis, Retrobulbar optic neur... ORPHA:90340
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Skin rash, Perianal abscess, Arthritis, Inflammation of the large intestine, C... OMIM:301074
Plague
Chapped lip, Skin rash, Erythema nodosum, Lymphadenitis, Abnormality of the elbow, Enterocolitis,... ORPHA:707
Catastrophic Antiphospholipid Syndrome
Myocarditis, Arthritis ORPHA:464343
Congenital Tricuspid Stenosis
Rheumatoid arthritis, Bacterial endocarditis ORPHA:95459
Immunoglobulin A Vasculitis
Episcleritis, Skin rash, Pustule, Orchitis, Optic atrophy, Arthritis, Infectious encephalitis ORPHA:761
Simple Cryoglobulinemia
Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Arthritis, Nephritis ORPHA:91139
Wiskott-Aldrich Syndrome
Sinusitis, Eczema, Keratitis, Arthritis, Inflammation of the large intestine, Conjunctivitis, Oti... ORPHA:906
Lymphatic Filariasis
Glomerulonephritis, Ankle swelling, Orchitis, Lymphadenitis, Knee osteoarthritis, Epididymitis ORPHA:2035
Noonan Syndrome 1
Hearing impairment, Sensorineural hearing impairment, Synovitis, Radial deviation of finger, Low-... OMIM:163950
Juvenile Dermatomyositis
Myositis, Pericarditis, Skin rash, Limitation of joint mobility, Arthritis ORPHA:93672
Familial Mediterranean Fever
Pericarditis, Orchitis, Peritonitis, Arthritis, Crohn's disease, Erysipelas OMIM:249100
Hereditary Sensory And Autonomic Neuropathy Type 4
Fasciitis, Osteomyelitis, Neuropathic arthropathy, Painless fractures due to injury, Abnormality ... ORPHA:642
Aspartylglucosaminuria
Abnormal morphology of ulna, Joint stiffness, Arthritis, Microtia, Chronic otitis media ORPHA:93
Tetrasomy 9P
Joint dislocation, Myositis, Glue ear, Hypoplastic scapulae, Pericarditis, Small hand, Abnormal e... ORPHA:3310
Postinfectious Vasculitis
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... ORPHA:48435
Primary Sjögren Syndrome
Myositis, Chronic active hepatitis, Glomerulonephritis, Lymphocytic interstitial pneumonia, Abnor... ORPHA:289390
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Gout ORPHA:79233
Sarcoidosis, Susceptibility To, 1
Optic neuropathy, Iridocyclitis, Clubbing, Bronchiectasis, Uveitis, Arthritis, Inflammation of th... OMIM:181000
Aicardi-Goutières Syndrome
Myositis, Multiple joint contractures, Chilblains, Arthritis, Panniculitis, Low-set ears ORPHA:51
Kawasaki Disease
Pericarditis, Skin rash, Myocarditis, Hepatitis, Cheilitis, Arthritis, Conjunctivitis, Cholecystitis ORPHA:2331
Hereditary Spherocytosis
Maculopapular exanthema, Gout ORPHA:822
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Abnormality of the ear, Long toe, 2-3 toe syndactyly, Low-set ears, Widely patent fon... ORPHA:3455
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Skin rash, Pneumonia, Chilblains, Hepatitis, Atopic dermatitis, Arthritis OMIM:615846
Glycogen Storage Disease Ia
Osteoporosis, Pancreatitis, Gout OMIM:232200
Sitosterolemia 1
Arthritis OMIM:210250
Autoimmune Lymphoproliferative Syndrome
Gastritis, Glomerulonephritis, Hepatitis, Uveitis, Thyroiditis, Arthritis, Colitis, Panniculitis,... ORPHA:3261
Glycogen Storage Disease Ib
Inflammation of the large intestine, Osteoporosis, Pancreatitis, Gout OMIM:232220
Dysbetalipoproteinemia
Acute pancreatitis, Gout ORPHA:412
Encephalocraniocutaneous Lipomatosis
Abnormal cartilage morphology, Osteochondrosis, Osteolysis ORPHA:2396
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
Gaisböck Syndrome
Vertigo, Cholecystitis, Gout ORPHA:90041
Gitelman Syndrome
Hashimoto thyroiditis, Vertigo, Gout, Tubulointerstitial nephritis, Tinnitus, Chondrocalcinosis ORPHA:358
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial nephritis, Gout OMIM:174000
Dermatomyositis
Myocarditis, Arthritis, Pericarditis, Chondrocalcinosis ORPHA:221
Glycogen Storage Disease Ic
Stomatitis, Inflammation of the large intestine, Gout, Chronic pancreatitis OMIM:232240
Marburg Hemorrhagic Fever
Pericarditis, Skin rash, Maculopapular exanthema, Orchitis, Uveitis, Arthritis, Pancreatitis ORPHA:99826
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Myocarditis, Septic arthritis, Pancreatitis, Acute colitis ORPHA:544482
Chronic Graft Versus Host Disease
Fasciitis, Urinary bladder inflammation, Flexion contracture, Bronchiectasis, Arthritis, Keratoco... ORPHA:99921
Choreoacanthocytosis
Arthritis, Abnormal autonomic nervous system physiology, Decreased amplitude of sensory action po... ORPHA:2388
Renal Cysts And Diabetes Syndrome
Gout OMIM:137920

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Col9a1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Col9a1.

No publications found that use IMPC mice or data for Col9a1.

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