Not currently registered for phenotyping at IMPC

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

Gene Summary

PG-Lb,  epiphycan,  SLRR3B,  Dspg3

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Epyc mutations

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

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

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

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

Disease Similarity of
Matching phenotypes Source
Slipped Femoral Capital Epiphyses
Hip osteoarthritis, Proximal femoral epiphysiolysis OMIM:182260
Beukes Hip Dysplasia
Hip dysplasia, Shallow acetabular fossae, Avascular necrosis of the capital femoral epiphysis, Os... OMIM:142669
Osteoarthritis Susceptibility 3
Osteoarthritis, Osteoarthritis of the first carpometacarpal joint, Joint stiffness, Osteoarthriti... OMIM:607850
Developmental Dysplasia Of The Hip 2
Hip dysplasia, Hip osteoarthritis, Coxa valga, Arthritis OMIM:615612
Osteoarthritis Susceptibility 2
Osteoarthritis, Heberden's node OMIM:140600
Peripheral Dysostosis
Hip osteoarthritis, Cone-shaped epiphyses of the phalanges of the hand, Short phalanx of finger OMIM:170700
Angel-Shaped Phalangoepiphyseal Dysplasia
Hip osteoarthritis, Delayed ossification of carpal bones, Premature osteoarthritis, Pseudoepiphys... OMIM:105835
Chondrocalcinosis 2
Polyarticular chondrocalcinosis, Osteoarthritis, Arthropathy OMIM:118600
Hip Dysplasia, Beukes Type
Hip dysplasia, Abnormal bone ossification, Abnormal ossification involving the femoral head and n... ORPHA:2114
Brachydactylous Dwarfism, Mseleni Type
Osteoarthritis of the elbow, Protrusio acetabuli, Stiff shoulders, Hip osteoarthritis, Osteopenia... ORPHA:2619
Epiphyseal Dysplasia, Multiple, 5
Genu valgum, Hypoplasia of the capital femoral epiphysis, Metaphyseal irregularity, Delayed ossif... OMIM:607078
Familial Avascular Necrosis Of Femoral Head
Abnormal femoral neck/head morphology, Hip osteoarthritis, Flattened femoral head, Limited hip mo... ORPHA:86820
Chondrocalcinosis 1
Osteoarthritis, Chondrocalcinosis OMIM:600668
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Osteoarthritis Susceptibility 1
Hip osteoarthritis OMIM:165720
Peripheral Dysostosis
Joint stiffness, Cone-shaped epiphyses of the phalanges of the hand, Clinodactyly of the 5th fing... ORPHA:1795
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Hip osteoarthritis, Flattened metacarpal heads, Osteoarthritis, Flattened metatarsal heads OMIM:271600
Epiphyseal Dysplasia, Multiple, 2
Irregular epiphyses, Epiphyseal dysplasia, Flattened epiphysis, Knee osteoarthritis, Genu varum, ... OMIM:600204
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome
Brachydactyly, Osteoarthritis, Short thumb ORPHA:435804
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Osteolysis of patellae, Osteolysis of scaphoids, Enlarged joints, Short 4th ... ORPHA:50809
Familial Digital Arthropathy-Brachydactyly
Osteoarthritis of the small joints of the hand, Short middle phalanx of finger, Shortening of all... ORPHA:85169
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Osteolysis of patellae, Osteolysis of scaphoids, Short 4th metacarpal, Synov... OMIM:609655
Metaphyseal Anadysplasia 2
Metaphyseal widening, Short femoral neck, Bowing of the legs, Metaphyseal irregularity OMIM:613073
Epiphyseal Dysplasia, Multiple, 6
Abnormality of the knee, Flat distal femoral epiphysis, Irregular epiphyses, Small epiphyses, Irr... OMIM:614135
Auditory Neuropathy, Autosomal Dominant, 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Rhizomelic Chondrodysplasia Punctata, Type 3
Epiphyseal stippling, Rhizomelia, Short femur, Short humerus OMIM:600121
Dysplasia Epiphysealis Hemimelica
Genu valgum, Tarsal synostosis, Abnormality of epiphysis morphology, Pes planus, Irregular epiphy... ORPHA:1822
Kienbock Disease
Limitation of joint mobility, Osteochondritis Dissecans, Osteoarthritis, Abnormality of the wrist ORPHA:97332
Epiphyseal Dysplasia, Multiple, 1
Genu valgum, Short phalanx of finger, Generalized joint laxity, Hip osteoarthritis, Irregular epi... OMIM:132400
Multiple Epiphyseal Dysplasia Type 1
Hip dysplasia, Genu valgum, Finger joint hypermobility, Short long bone, Coxa vara, Avascular nec... ORPHA:93308
Epiphyseal Dysplasia, Multiple, 3
Limited elbow extension, Abnormal hip joint morphology, Delayed epiphyseal ossification, Limited ... OMIM:600969
Arthritis, Sacroiliac
Sacroiliac arthritis OMIM:108100
Mueller-Weiss Syndrome
Fragmented, irregular epiphyses, Chondritis, Limitation of movement at ankles, Pes planus, Positi... ORPHA:566943
Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Joint laxity, Flat ace... ORPHA:750
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip dysplasia, Abnormality of epiphysis morphology, Hip osteoarthritis, Short middle phalanx of f... ORPHA:63442
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Hip osteoarthritis, Abnormal epiphysis morphology of the phalanges of the hand, Brachydactyly OMIM:619248
Ankylosing Vertebral Hyperostosis With Tylosis
Abnormal pelvis bone morphology, Osteoarthritis, Palmoplantar keratoderma ORPHA:2206
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Constrictive pericarditis, Flattened metatarsal heads, Congenital finger flexion contractures, Fl... OMIM:208250
Osteochondrosis Of The Tarsal Bone
Chondritis, Flattening of the talar dome, Abnormal tarsal ossification, Pedal edema, Tarsal scler... ORPHA:563991
Osteochondrosis Of The Metatarsal Bone
Abnormality of the fifth metatarsal bone, Chondritis, Abnormality of the fourth metatarsal bone, ... ORPHA:564003
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the knee, Genu valgum, Abnormality of the ankles, Abnormality of epiphysis morphol... ORPHA:166002
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Flared metaphysis, Flattened epiphysis, Genu varum, Shor... ORPHA:93356
Chondrodysplasia, Grebe Type
Hypoplasia of the radius, Short femur, Postaxial hand polydactyly, Short phalanx of finger, Flexi... OMIM:200700
Spondyloepiphyseal Dysplasia, Kimberley Type
Micromelia, Osteoarthritis, Abnormality of epiphysis morphology ORPHA:93283
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip dysplasia, Abnormality of the knee, Hip subluxation, Protrusio acetabuli, Hip osteoarthritis,... ORPHA:99642
Glycoprotein Storage Disease
Gout OMIM:232900
Abnormality of femur morphology, Joint hyperflexibility, Abnormality of the elbow, Bowing of the ... ORPHA:429
Spondyloepimetaphyseal Dysplasia, Irapa Type
Hypoplastic sacrum, Genu valgum, Limited elbow extension, Upper limb undergrowth, Short metatarsa... OMIM:271650
Abnormality of the knee, Abnormality of tibia morphology, Joint swelling, Arthritis, Clubbing of ... ORPHA:1525
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoporosis, Genu valgum, Upper limb undergrowth, Short metatarsal, Hypoplastic pelvis, Synostos... ORPHA:93351
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Short femur, Tarsal synostosis, Pes planus, Talocalcaneal synostosis, Sandal gap, Wide capital fe... OMIM:147891
Chondrocalcinosis Due To Apatite Crystal Deposition
Osteoarthritis of the small joints of the hand, Costal cartilage calcification, Arthropathy, Chon... OMIM:118610
Osteoarthritis With Mild Chondrodysplasia
Heberden's node, Hip osteoarthritis, Joint stiffness, Knee osteoarthritis OMIM:604864
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the radius, Short femur, Lytic defects of humeral diaphysis, Absent ossification of... OMIM:601376
Vertical Talus, Congenital
Rocker bottom foot, Calcaneovalgus deformity, Equinus calcaneus, Arthritis OMIM:192950
Acrocapitofemoral Dysplasia
Flared iliac wing, Short distal phalanx of finger, Cone-shaped epiphysis of the 1st metacarpal, C... OMIM:607778
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Hip osteoarthritis, Osteochondritis Dissecans, Short thumb, Broad hallux, Brachydactyly, Osteoart... OMIM:165800
Ulnar Hemimelia
Radial club hand, Short forearm, Limited shoulder movement, Duplication of phalanx of 3rd finger,... ORPHA:93320
Tibial Aplasia-Ectrodactyly Syndrome
Preaxial hand polydactyly, Postaxial hand polydactyly, Short femur, Abnormality of femur morpholo... ORPHA:3329
Multiple Epiphyseal Dysplasia, Beighton Type
Abnormal hip joint morphology, Flattened femoral head, Joint stiffness, Double-layered patella, A... ORPHA:166011
Familial Calcium Pyrophosphate Deposition
Joint swelling, Chondrocalcinosis, Joint dislocation, Osteoarthritis, Limitation of joint mobilit... ORPHA:1416
Progressive Pseudorheumatoid Dysplasia
Metaphyseal widening, Camptodactyly of finger, Osteoporosis, Arthropathy, Enlarged interphalangea... OMIM:208230
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Limited elbow extension, Flared iliac wing, Rhizomelia, Metaphyseal cupping, Tibia... OMIM:602111
Multiple Epiphyseal Dysplasia With Robin Phenotype
Genu valgum, Dislocated radial head, Short femur, Talipes equinovarus, Rhizomelia, Irregular epip... OMIM:601560
Spondyloepiphyseal Dysplasia, Nishimura Type
Cone-shaped epiphysis, Small hand, Delayed epiphyseal ossification, Brachydactyly, Osteoarthritis OMIM:618618
Fibular Hemimelia
Hip subluxation, Craniosynostosis, Joint laxity, Structural foot deformity, Bowing of the legs, J... ORPHA:93323
Congenital Pseudoarthrosis Of The Clavicle
Osteoarthritis, Congenital pseudoarthrosis of the clavicle ORPHA:66630
Ehlers-Danlos Syndrome, Hypermobility Type
Joint hypermobility, Joint dislocation, Joint laxity, Osteoarthritis OMIM:130020
Genu valgum, Enlarged joints, Metaphyseal enchondromatosis, Generalized joint laxity, Joint dislo... ORPHA:85198
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Flat distal femoral epiphysis, Genu valgum, Proximal femoral metaphyseal irregularity, Flared fem... OMIM:609324
Epiphyseal Dysplasia, Multiple, 7
Flat acetabular roof, Monkey wrench femoral neck, Genu varum, Short femoral neck, Advanced ossifi... OMIM:617719
Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Joint laxity, Carpal b... OMIM:177170
Multiple Epiphyseal Dysplasia Type 4
Short metatarsal, Acetabular dysplasia, Joint stiffness, Double-layered patella, Short thumb, Sho... ORPHA:93307
Multiple Epiphyseal Dysplasia Type 5
Hip dysplasia, Genu valgum, Abnormality of upper limb epiphysis morphology, Intervertebral disc d... ORPHA:93311
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Generalized joint laxity, Irregular patellae, Patellar hypoplasia, Genu varum, Short femoral neck... OMIM:609325
Desbuquois Dysplasia 1
Short metatarsal, Joint laxity, Pes planus, Phalangeal dislocation, Broad first metatarsal, Sanda... OMIM:251450
Progressive Osseous Heteroplasia
Limitation of joint mobility, Ectopic ossification in muscle tissue, Brachydactyly, Osteoarthritis ORPHA:2762
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Genu valgum, Finger syndactyly, Abnormality of epiphysis morphology, Clinodactyly, Joint dislocat... ORPHA:166024
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Epiphyseal dysplasia, Premature osteoarthritis, Enlarged epiphyses OMIM:184840
Epiphyseal Dysplasia, Multiple, 4
Hip dysplasia, Epiphyseal dysplasia, Limited elbow flexion, Double-layered patella, Short metacar... OMIM:226900
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Abnormality of limb bone morphology, Joint swelling, Abnormality of epiphysis morphology, Synovit... ORPHA:85435
Spondylosis, Cervical
Osteoarthritis OMIM:184300
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Arthritis OMIM:216950
Widow'S Peak Syndrome
Hip osteoarthritis, Narrow iliac wing, Recurrent patellar dislocation, Arthralgia/arthritis, High... OMIM:314570
Abcd Syndrome
Hearing impairment, Abnormal auditory evoked potentials, Aganglionic megacolon OMIM:600501
Hypophosphatemic Rickets, X-Linked Dominant
Metaphyseal irregularity, Flattening of the talar dome, Hypophosphatemic rickets, Tibial bowing, ... OMIM:307800
Spondylometaphyseal Dysplasia, Corner Fracture Type
Metaphyseal irregularity, Coxa vara, Genu varum, Short femoral neck, Hypoplasia of the odontoid p... OMIM:184255
Spondyloepiphyseal Dysplasia Tarda
Limited wrist movement, Localized osteoporosis, Joint swelling, Flattened femoral head, Limited s... ORPHA:93284
Albers-Schönberg Osteopetrosis
Genu valgum, Abnormality of epiphysis morphology, Recurrent fractures, Generalized osteosclerosis... ORPHA:53
Syndactyly Type 4
6 metacarpals, Camptodactyly of finger, Hand polydactyly, Toe syndactyly, 1-5 finger syndactyly, ... ORPHA:93405
Eng-Strom Syndrome
Camptodactyly of finger, Brachydactyly, Arthritis ORPHA:1937
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Recurrent fractures, Generalized osteosclerosis, Mandibular osteomyelitis, Os... OMIM:166600
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Micrognathia, Abnormal metacarpal morphology, Osteoarthritis ORPHA:166100
Skeletal Defects, Genital Hypoplasia, And Mental Retardation
Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Absent... OMIM:612447
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Metaphyseal chondrodysplasia, Short middle phalanx of finger, Metaphys... OMIM:156500
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Joint laxity, Increased susceptibility to fractures, Congenital bilateral hip dislocation, Premat... OMIM:130060
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Proximal femoral metaphyseal irregularity, Decreased hip abduction, Flared iliac wing, Rhizomelia... OMIM:183849
Enthesitis-Related Juvenile Idiopathic Arthritis
Abnormal femoral neck/head morphology, Thickened Achilles tendon, Abnormal hip joint morphology, ... ORPHA:85438
Hemophilia A
Joint hemorrhage, Osteoarthritis OMIM:306700
Multiple Osteochondromas
Radial bowing, Genu valgum, Abnormality of tibia morphology, Osteolysis, Elbow dislocation, Synos... ORPHA:321
Otospondylomegaepiphyseal Dysplasia
Dumbbell-shaped femur, Abnormality of long bone morphology, Enlarged joints, Short phalanx of fin... ORPHA:1427
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Abnormal hip joint morphology, Abnormal metatarsal morphology, Joint swelling, Iridocyclitis, Hip... ORPHA:85408
Acromesomelic Dysplasia, Hunter-Thompson Type
Radial bowing, Hypoplasia of the radius, Elbow dislocation, Abnormally shaped carpal bones, Hypop... OMIM:201250
Paget Disease Of Bone 6
Recurrent fractures, Osteoarthritis OMIM:616833
Dermatoosteolysis, Kirghizian Type
Osteolysis, Tarsal synostosis, Keratitis, Abnormal diaphysis morphology, Abnormality of the wrist... ORPHA:1657
Langer Mesomelic Dysplasia
Abnormality of epiphysis morphology, Mesomelic/rhizomelic limb shortening, Bowing of the long bon... ORPHA:2632
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the 5th finger, Congenital hip dislocation, Femoral bowing, Aplasia/Hypopla... OMIM:228930
Congenital Atransferrinemia
Arthritis ORPHA:1195
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Recurrent pneumonia, Aplasia/Hypoplasia of the capital femoral epiphysis, Enlarged joints, Large ... OMIM:215150
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Short femur, Rhizomelia, Hypoplastic scapulae, Dumbbell-shaped long bone, Brachydactyly, Metaphys... ORPHA:440354
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Multiple joint dislocation, Hip subluxation, Joint laxity, Metaphyseal irregularity, Delayed epip... ORPHA:93360
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Hip osteoarthritis, Irregular epiphyses, Hypoplastic iliac wing, Coxa vara, Short femoral neck, L... OMIM:313400
Spondyloarthropathy, Susceptibility To, 1
Inflammation of the large intestine, Hip osteoarthritis, Enthesitis, Psoriasiform dermatitis, Ant... OMIM:106300
Pelviscapular Dysplasia
Humeroradial synostosis, Short femur, Congenital hip dislocation, Hypoplastic scapulae, Hypoplast... ORPHA:93333
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteoporosis, Squared iliac bones, Pes planus, Shoulder dislocation, Knee dislocation, Hip disloc... OMIM:618000
Epiphyseal Dysplasia, Baumann Type
Genu valgum, Hypoplasia of the femoral head, Joint laxity, Metaphyseal irregularity, Pes planus, ... OMIM:610797
Atelosteogenesis, Type I
Radial bowing, Club-shaped proximal femur, Fibular aplasia, Short femur, Short metatarsal, Elbow ... OMIM:108720
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Rudimentary fibula, Madelung deformity, Mesomelia, Hypop... OMIM:249700
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Joint stiffness, Osteoarthritis ORPHA:1345
Stickler Syndrome Type 1
Joint hyperflexibility, Abnormality of vertebral epiphysis morphology, Osteoarthritis, Abnormalit... ORPHA:90653
Atelosteogenesis Type Ii
Short phalanx of finger, Elbow dislocation, Hitchhiker thumb, Camptodactyly, Sandal gap, Metatars... ORPHA:56304
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density, ... OMIM:166740
Hemophilia B
Joint hemorrhage, Osteoarthritis OMIM:306900
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal irregularity, Bowing of the legs, Femoral bowing, Hip dysplasia, Ulnar metaphyseal ir... ORPHA:174
Kyphomelic Dysplasia
Radial bowing, Short femur, Micrognathia, Dumbbell-shaped humerus, Short humerus, Tibial bowing, ... OMIM:211350
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Czech Dysplasia
Short toe, Short metatarsal, Flexion contracture, Narrow iliac wing, Narrow femoral neck, Coxa va... OMIM:609162
Femoral-Facial Syndrome
Hip dysplasia, Short femur, Radioulnar synostosis, Preaxial foot polydactyly, Aplasia/Hypoplasia ... ORPHA:1988
Ivic Syndrome
Limited wrist movement, Hypoplasia of the radius, Short femur, Upper limb undergrowth, Radioulnar... OMIM:147750
Laron Syndrome
Abnormality of the elbow, Short toe, Micrognathia, Brachydactyly, Osteoarthritis ORPHA:633
Immunodeficiency 61
Recurrent otitis media, Recurrent sinusitis, Arthritis OMIM:300310
Hemochromatosis, Type 4
Osteoarthritis OMIM:606069
Hemophilia A With Vascular Abnormality
Joint hemorrhage, Osteoarthritis OMIM:306800
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Elbow dislocation, Bowing of the long bones, Narrow iliac wing, Mesomeli... ORPHA:85170
Skin rash, Flexion contracture, Recurrent cutaneous abscess formation, Limitation of joint mobili... ORPHA:231
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Conjunctivitis, Arthritis OMIM:617772
Spondyloepiphyseal Dysplasia Congenita
Osteoporosis, Genu valgum, Short femur, Upper limb undergrowth, Aplasia/hypoplasia involving bone... ORPHA:94068
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Colitis, Cystic acne, Arthritis, Knee flexion contracture, Elbow flexion contracture, Acne, Steri... OMIM:604416
Spondyloepimetaphyseal Dysplasia, Shohat Type
Generalized bone demineralization, Joint laxity, Metaphyseal irregularity, Abnormality of epiphys... ORPHA:93352
Acromesomelic Dysplasia, Grebe Type
Postaxial hand polydactyly, Tarsal synostosis, Synostosis of carpal bones, Bowing of the long bon... ORPHA:2098
Psoriasis 1, Susceptibility To
Psoriasiform dermatitis, Arthritis OMIM:177900
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Foot oligodactyly, Amelia, Short femur OMIM:601357
Multicentric Reticulohistiocytosis
Arthritis ORPHA:139436
Bullous Impetigo
Pustule, Recurrent bacterial skin infections, Septic arthritis ORPHA:36237
Diarrhea 5, With Tufting Enteropathy, Congenital
Arthritis OMIM:613217
Du Pan Syndrome
Fibular aplasia, Short metatarsal, Short phalanx of finger, Rhizomelia, Talipes equinovalgus, Bra... OMIM:228900
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Hypoplasia of the radius, Aplasia/Hypoplasia of the middle ph... OMIM:112910
Trichorhinophalangeal Syndrome, Type I
Coxa magna, Cone-shaped epiphyses of the proximal phalanges of the hand, Short metatarsal, Pes pl... OMIM:190350
Absent hand, Carpal bone aplasia, Lower limb peromelia, Aplasia of the ulna, Short humerus, Perom... OMIM:200500
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Wormian bones, Short femur, Flexion contracture, Limb undergrowth, Decreased fibular diameter, Ad... OMIM:616897
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Joint laxity, Short palm, Bowing of the legs, Antecubital pterygium, Short femoral neck, Equinova... ORPHA:2502
Thanatophoric Dysplasia Type 1
Abnormal sacroiliac joint morphology, Short femur, Split hand, Hypoplastic ilia, Short greater sc... ORPHA:1860
Atelosteogenesis Type I
Short femur, Abnormal ossification involving the femoral head and neck, Rhizomelia, Limb undergro... ORPHA:1190
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Genu valgum, Metaphyseal irregularity, Narrow iliac wing, Joint contracture of the 5th finger, Ps... OMIM:601668
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Delayed closure of the anterior fontanelle, Talipes equinovalgus, Mesomel... OMIM:605274
Leri-Weill Dyschondrosteosis
Radial bowing, Short 4th metacarpal, Hypoplasia of the radius, Short toe, Abnormal metatarsal mor... OMIM:127300
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Foot oligodactyly, Tibial bowing, Syndactyly, Hand oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote... ORPHA:320401
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Thalidomide Embryopathy
Radial club hand, Preaxial hand polydactyly, Upper limb phocomelia, Split hand, Aplasia/hypoplasi... ORPHA:3312
Acromesomelic Dysplasia, Demirhan Type
Aplasia of the proximal phalanges of the hand, Tarsal synostosis, Short phalanx of finger, Short ... OMIM:609441
Absent hand, Upper limb phocomelia, Abnormality of epiphysis morphology, Aplasia of the ulna, Sho... ORPHA:931
Dyschondrosteosis And Nephritis
Radial bowing, Short forearm, Madelung deformity, Short tibia, Ulnar bowing, Nephritis OMIM:127350
Ectopic ossification in muscle tissue, Increased bone mineral density, Joint stiffness, Lower lim... ORPHA:2485
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split foot, Fibular aplasia, Brachydac... OMIM:113310
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Limitation of joint mobility, Arthritis ORPHA:2582
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Purulent rhinitis, Pneumonia, Conjunctivitis, Otitis media, Arthritis OMIM:601457
Spinal Dysplasia, Anhalt Type
Osteoarthritis of the small joints of the hand, Narrow anterio-posterior vertebral body diameter,... OMIM:601344
Prostatitis, Cutaneous abscess, Acute infectious pneumonia, Pneumonia, Septic arthritis, Foot ost... ORPHA:31202
Progressive Pseudorheumatoid Arthropathy Of Childhood
Abnormal ilium morphology, Abnormal hip joint morphology, Enlarged interphalangeal joints, Joint ... ORPHA:1159
Congenital Disorder Of Glycosylation, Type Ig
Hypoplasia of the radius, Short femur, Rhizomelia, Short humerus, Sandal gap, Short ribs, Talipes... OMIM:607143
Laurin-Sandrow Syndrome
Absent tibia, Hand polydactyly, Fibular duplication, Short foot, Absent radius, Syndactyly, Patel... OMIM:135750
Oligoarticular Juvenile Idiopathic Arthritis
Joint hypermobility, Rheumatoid arthritis, Uveitis, Knee osteoarthritis, Oligoarthritis, Abnormal... ORPHA:85410
Stickler Syndrome, Type I
Abnormality of femoral epiphysis, Arachnodactyly, Osteoarthritis, Irregular femoral epiphysis, Ar... OMIM:108300
Idiopathic Non-Lupus Full-House Nephropathy
Skin rash, Synovitis, Glomerulonephritis, Serositis, Arthritis ORPHA:567544
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Genu valgum, Generalized bone demineralization, Metaphyseal irregularity, Rick... OMIM:600785
Weismann-Netter Syndrome
Squared iliac bones, Abnormality of tibia morphology, Bowing of the long bones, Aplasia/Hypoplasi... ORPHA:3344
Coronary Artery Disease, Autosomal Dominant 2
Osteoporosis, Gout OMIM:610947
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Camptodactyly of finger, Postaxial hand polydactyly, Preaxial hand polydacty... ORPHA:3332
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial palsy OMIM:617519
Ehlers-Danlos Syndrome, Classic Type, 1
Joint hypermobility, Hyperextensibility of the knee, Pes planus, Recurrent sinusitis, Hyperextens... OMIM:130000
Patella Aplasia-Hypoplasia
Patellar hypoplasia, Patellar aplasia OMIM:168860
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Pustule, Increased inflammatory response, Myositis, Crohn's disease, Limitation of joint mobility... ORPHA:69126
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Gout, Nephritis OMIM:162000
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Abnormal auditory evoked potentials, Decreased nerve conduction velocity OMIM:601455
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Rheumatoid arthritis, Clubbing of fingers, Clubbing OMIM:178610
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Inflammation of the large intestine, Skin rash, Osteolysis, Abnormality of epiphysis morphology, ... ORPHA:324964
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Dislocated radial head, Multiple joint dislocation, Joint laxity, Metaphyseal irregularity, Carpa... OMIM:618395
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Absent tibia, Split hand, Aplasia of the ulna, Foot monodactyly, Hand monodactyly, Bifid femur OMIM:228250
Spondyloepimetaphyseal Dysplasia, Shohat Type
Vertebral hypoplasia, Joint laxity, Metaphyseal irregularity, Central vertebral hypoplasia, Limb ... OMIM:602557
Sydenham Chorea
Endocarditis, Septic arthritis ORPHA:306731
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Abnormal auditory evoked potentials, Optic atrophy OMIM:125250
Nail-Patella Syndrome
Abnormality of tibia morphology, Pes planus, Abnormality of the elbow, Iliac horns, Abnormal digi... ORPHA:2614
Isolated Agammaglobulinemia
Skin rash, Pneumonia, Clinodactyly of the 5th toe, Inflammatory abnormality of the eye, Recurrent... ORPHA:229717
Roifman-Chitayat Syndrome
Short metatarsal, Cone-shaped epiphysis, Pneumonia, Short metacarpal, Osteopenia, Arthritis OMIM:613328
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Elbow dislocation, Elbow flexion contracture, Micrognathia, Femoral bowing, Short femur, Enlarged... OMIM:210710
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Cervical subluxation, Avascular necrosis of the capital femoral epiphysis, Hypoplasia of the odon... OMIM:184100
Prostatitis, Thickened Achilles tendon, Joint swelling, Reduced bone mineral density, Joint stiff... ORPHA:56
Psoriasis-Related Juvenile Idiopathic Arthritis
Abnormality of the knee, Skin rash, Iridocyclitis, Iritis, Finger dactylitis, Polyarticular arthr... ORPHA:85436
Autosomal Dominant Spastic Paraplegia Type 36
Pes cavus, Arthritis ORPHA:320365
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Recurrent fractures, Femoral bowing, Increased susceptibility to fractures OMIM:615066
X-Linked Hypophosphatemia
Genu valgum, Craniosynostosis, Sacroiliac joint synovitis, Flared iliac wing, Abnormality of epip... ORPHA:89936
Bruck Syndrome 2
Wormian bones, Flexion contracture, Pterygium, Increased susceptibility to fractures, Knee flexio... OMIM:609220
Buschke-Ollendorff Syndrome
Craniosynostosis, Palmoplantar keratoderma, Abnormality of epiphysis morphology, Flexion contract... ORPHA:1306
Wilson Disease
Osteoporosis, Joint hypermobility, Chondrocalcinosis, Osteomalacia, Atypical or prolonged hepatit... OMIM:277900
Farber Lipogranulomatosis
Joint swelling, Arthritis OMIM:228000
Systemic Lupus Erythematosus, Susceptibility To, 6
Malar rash, Pericarditis, Arthritis OMIM:609939
Juvenile Idiopathic Arthritis
Skin rash, Joint swelling, Uveitis, Abnormal joint morphology, Arthritis, Joint stiffness, Joint ... ORPHA:92
Familial Cold Autoinflammatory Syndrome 1
Skin rash, Conjunctivitis, Uveitis, Arthritis OMIM:120100
Felty Syndrome
Rheumatoid arthritis OMIM:134750
Systemic Lupus Erythematosus
Pericarditis, Lupus nephritis, Malar rash, Nephritis, Arthritis OMIM:152700
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Recurrent aphthous stomatitis, Erythema nodosum, Arthritis OMIM:611762
Hip dysplasia, Synostosis of joints, Hypoplastic inferior ilia, Bowing of the long bones, Chronic... ORPHA:61
Gaucher Disease Type 1
Osteolysis, Pedal edema, Increased bone mineral density, Pathologic fracture, Osteopenia, Osteoar... ORPHA:77259
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Osteoporosis, Wormian bones, Seborrheic dermatitis, Eczematoid dermatitis, Arthritis, Limitation ... OMIM:259100
Sapho Syndrome
Inflammation of the large intestine, Skin rash, Pustule, Osteolysis, Palmoplantar pustulosis, Cra... ORPHA:793
Autosomal Agammaglobulinemia
Skin rash, Bronchiectasis, Chronic otitis media, Conjunctivitis, Hepatitis, Sinusitis, Recurrent ... ORPHA:33110
Lesch-Nyhan Syndrome
Gout ORPHA:510
Wild Type Abeta2M Amyloidosis
Abnormal shoulder morphology, Arthropathy, Arthritis ORPHA:85446
Osteogenesis Imperfecta
Joint hypermobility, Abnormality of long bone morphology, Abnormality of tibia morphology, Wormia... ORPHA:666
Marshall Syndrome
Genu valgum, Hypoplastic frontal sinuses, Micrognathia, Osteoarthritis ORPHA:560
Loeys-Dietz Syndrome 5
Joint hypermobility, Congenital finger flexion contractures, Pes planus, Flexion contracture of t... OMIM:615582
Blau Syndrome
Camptodactyly of finger, Pericarditis, Joint swelling, Iritis, Flexion contracture of toe, Uveiti... OMIM:186580
Felty Syndrome
Osteolysis, Pericarditis, Chronic otitis media, Synovitis, Abnormal joint morphology, Sinusitis, ... ORPHA:47612
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteoporosis, Arthropathy, Osteolysis, Sclerotic cranial sutures, Osteolysis involving bones of t... ORPHA:371428
Hunter-Macdonald Syndrome
Cubitus valgus, Camptodactyly, 2-3 toe syndactyly, Pseudoepiphyses, Metatarsus adductus, Delayed ... OMIM:611962
Cinca Syndrome
Skin rash, Patellar overgrowth, Uveitis, Arthritis OMIM:607115
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Craniosynostosis, Broad thumb, Short metatarsal, Short phalanx of finger, Flared iliac wing, Spli... OMIM:609945
Sjogren Syndrome
Rheumatoid arthritis, Keratoconjunctivitis sicca, Tubulointerstitial nephritis OMIM:270150
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Crescentic glomerulonephritis, Arthritis OMIM:616414
Pfapa Syndrome
Encephalitis, Arthritis ORPHA:42642
Schnitzler Syndrome
Skin rash, Arthritis, Increased bone mineral density ORPHA:37748
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Foot acroosteolysis, Metacarpal periosteal thickening, Clubbing, Metatarsal periosteal thickening... OMIM:161700
Diverticulosis, Small-Intestinal
Thyroiditis, Rheumatoid arthritis, Ulcerative colitis OMIM:223320
Rheumatoid Arthritis
Joint swelling, Swan neck-like deformities of the fingers, Rheumatoid arthritis, Joint stiffness,... OMIM:180300
Pelvis-Shoulder Dysplasia
Dislocated radial head, Camptodactyly of finger, Talipes equinovarus, Aplasia/Hypoplasia of the s... ORPHA:2839
Muckle-Wells Syndrome
Camptodactyly of finger, Skin rash, Uveitis, Conjunctivitis, Episcleritis, Pes cavus, Recurrent a... ORPHA:575
Familial Mediterranean Fever
Peritonitis, Skin rash, Pericarditis, Pedal edema, Orchitis, Erysipelas, Pancreatitis, Osteoarthr... ORPHA:342
Yao Syndrome
Skin rash, Inflammatory abnormality of the skin, Pericarditis, Keratoconjunctivitis sicca, Arthritis OMIM:617321
Achalasia, Familial Esophageal
Rheumatoid arthritis, Keratoconjunctivitis sicca OMIM:200400
Rat-Bite Fever
Skin rash, Parotitis, Pustule, Endocarditis, Pericarditis, Lymphadenitis, Maculopapular exanthema... ORPHA:31205
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Temporal op... ORPHA:1215
Eosinophilic Fasciitis
Myositis, Arthritis, Fasciitis ORPHA:3165
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Broad distal phalanx of finger, Joint hypermobility, Short femur, Talipes, Pes planus, Clinodacty... OMIM:300990
Tibial Hemimelia
Radial club hand, Tarsal synostosis, Polydactyly, Split hand, Metatarsus adductus, Absent radius,... ORPHA:93322
X-Linked Agammaglobulinemia
Skin rash, Chronic otitis media, Sinusitis, Conjunctivitis, Hepatitis, Recurrent cutaneous absces... ORPHA:47
Familial Cold Urticaria
Conjunctivitis, Arthritis ORPHA:47045
Hemochromatosis, Type 2A
Arthritis OMIM:602390
Osteoporosis, Seborrheic dermatitis, Osteolysis, Joint swelling, Palmoplantar keratoderma, Abnorm... ORPHA:2796
Majeed Syndrome
Pustule, Metaphyseal irregularity, Flexion contracture, Synovitis, Increased bone mineral density... ORPHA:77297
Graft Versus Host Disease
Acute hepatitis, Gastrointestinal inflammation, Inflammatory abnormality of the skin, Maculopapul... ORPHA:39812
Epididymitis, Endocarditis, Pericarditis, Arteritis, Hip osteoarthritis, Orchitis, Pneumonia, Sep... ORPHA:1304
Tibial Hemimelia
Absent tibia OMIM:275220
Periodic Fever, Familial, Autosomal Dominant
Skin rash, Maculopapular exanthema, Conjunctivitis, Erysipelas, Oligoarthritis, Polyarticular art... OMIM:142680
Hemochromatosis, Type 3
Arthritis OMIM:604250
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Abnormal cochlea morpholog... ORPHA:52368
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Gout OMIM:618061
Complement Factor I Deficiency
Pyelonephritis, Recurrent otitis media, Recurrent sinusitis, Glomerulonephritis, Sinusitis, Recur... OMIM:610984
Immunodeficiency 68
Lymphadenitis, Recurrent skin infections, Septic arthritis OMIM:612260
Vexas Syndrome
Chondritis of pinna, Arteritis, Neutrophilic infiltration of the skin, Nasal chondritis, Arthriti... OMIM:301054
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Conductive hearing impairment OMIM:201050
Agammaglobulinemia, X-Linked
Prostatitis, Epididymitis, Pyoderma, Pneumonia, Septic arthritis, Enteroviral hepatitis, Conjunct... OMIM:300755
Thickened Achilles tendon, Intervertebral disc degeneration, Limited hip movement, Limitation of ... OMIM:203500
Marfan Syndrome
Joint hypermobility, Limited elbow extension, Protrusio acetabuli, Talipes, Genu recurvatum, Pes ... OMIM:154700
Lyme Disease
Uveitis, Joint swelling, Encephalitis, Arthritis ORPHA:91546
Proteasome-Associated Autoinflammatory Syndrome 3
Skin rash, Flexion contracture, Panniculitis, Finger swelling, Conjunctivitis, Sinusitis, Myositi... OMIM:617591
Stickler Syndrome
Genu valgum, Protrusio acetabuli, Abnormality of epiphysis morphology, Joint hyperflexibility, Ch... ORPHA:828
Psoriasis 14, Pustular
Pustule, Cholangitis, Oligoarthritis, Polyarticular arthritis, Psoriasiform dermatitis OMIM:614204
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Inflammation of the large intestine, Chronic gastritis, Colitis, Eczema, Arthritis OMIM:608809
Interstitial Granulomatous Dermatitis With Arthritis
Rheumatoid arthritis, Inflammatory abnormality of the skin ORPHA:79099
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Clubbing of fingers, Bronchiectasis, Thyroiditis, Recurrent ... OMIM:614700
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Eczema, Septic arthritis, Recurrent pneumonia OMIM:617780
Zika Virus Disease
Skin rash, Myelitis, Maculopapular exanthema, Conjunctivitis, Ankle swelling, Encephalitis, Wrist... ORPHA:448237
Autoimmune Lymphoproliferative Syndrome, Type V
Bronchiectasis, Chronic atrophic gastritis, Eczema, Psoriasiform dermatitis, Crohn's disease, Art... OMIM:616100
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent otitis media, Recurrent sinusitis, Membranous nephropathy, Arthritis OMIM:615559
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Prostatitis, Epididymitis, Recurrent otitis media, Pyoderma, Pneumonia, Septic arthritis, Enterov... OMIM:307200
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplastic pubic bones, Split hand, Phocomelia, Elbow flexion contracture, Femoral bowing, Hypoplas... OMIM:276820
Anti-Glomerular Basement Membrane Disease
Arthritis ORPHA:375
Arthralgia/arthritis, Pericarditis, Endocarditis, Pneumonia, Septic arthritis, Sinusitis, Osteomy... ORPHA:449280
Gaucher Disease
Arthrogryposis multiplex congenita, Osteolysis, Recurrent fractures, Increased bone mineral densi... ORPHA:355
Adult-Onset Still Disease
Skin rash, Pericarditis, Joint swelling, Hepatitis, Myocarditis, Arthritis ORPHA:829
Skin rash, Pericarditis, Thyroiditis, Keratoconjunctivitis sicca, Myocarditis, Myositis, Limitati... ORPHA:99867
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Structural foot deformity, Arthritis ORPHA:397744
Joint swelling, Deep plantar creases, Macrodactyly, Large hands, Osteoarthritis, Cortical diaphys... ORPHA:963
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Polydactyly, Short femur, Flexion contracture, Short humerus ORPHA:17
Aneurysm-Osteoarthritis Syndrome
Osteoporosis, Camptodactyly of finger, Intervertebral disc degeneration, Protrusio acetabuli, Joi... ORPHA:284984
Bacterial Toxic-Shock Syndrome
Peritonitis, Skin rash, Pneumonia, Septic arthritis, Glomerulonephritis, Hepatitis, Fasciitis, En... ORPHA:36234
Skin rash, Hypoplastic ilia, Pneumonia, Limb undergrowth, Short distal phalanx of finger, Metaphy... ORPHA:1855
Takayasu Arteritis
Arthritis, Inflammatory abnormality of the eye, Increased inflammatory response ORPHA:3287
Insulin-Resistance Syndrome Type B
Skin rash, Nephritis, Osteoarthritis, Pneumonia ORPHA:2298
Joint swelling, Deep plantar creases, Macrodactyly, Large hands, Osteoarthritis, Cortical diaphys... ORPHA:314769
Wiedemann-Rautenstrauch Syndrome
Delayed closure of the anterior fontanelle, Short femur, Hypoplastic ilia, Long foot, Flexion con... OMIM:264090
Mixed Connective Tissue Disease
Skin rash, Osteolysis, Pericarditis, Joint swelling, Keratoconjunctivitis sicca, Joint stiffness,... ORPHA:809
Behcet Syndrome
Epididymitis, Iridocyclitis, Iritis, Erythema nodosum, Arthritis OMIM:109650
Hypocomplementemic Urticarial Vasculitis
Skin rash, Uveitis, Conjunctivitis, Episcleritis, Joint dislocation, Inflammatory abnormality of ... ORPHA:36412
Hutchinson-Gilford Progeria Syndrome
Osteolytic defects of the distal phalanges of the hand, Limited wrist movement, Limitation of mov... ORPHA:740
Autoimmune Hepatitis
Inflammation of the large intestine, Acute hepatitis, Viral hepatitis, Thyroiditis, Sclerosing ch... ORPHA:2137
Hyperuricemia, Hprt-Related
Podagra OMIM:300323
Secondary Intestinal Lymphangiectasia
Pedal edema, Recurrent skin infections, Arthritis ORPHA:90363
Hypermobile Ehlers-Danlos Syndrome
Wormian bones, Osteolysis, Elbow dislocation, Pes planus, Joint hyperflexibility, Keratoconjuncti... ORPHA:285
Microscopic Polyangiitis
Peritonitis, Skin rash, Pericarditis, Increased inflammatory response, Uveitis, Episcleritis, Pan... ORPHA:727
Symptomatic Form Of Hemochromatosis Type 1
Osteoporosis, Joint swelling, Stiff interphalangeal joints, Joint stiffness, Abnormality of metac... ORPHA:465508
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Gout OMIM:617056
Wilson Disease
Acute hepatitis, Joint swelling, Hepatitis, Pathologic fracture, Arthritis ORPHA:905
Classical Ehlers-Danlos Syndrome
Dislocated radial head, Joint swelling, Generalized joint laxity, Pes planus, Phalangeal dislocat... ORPHA:287
Rheumatic Fever
Endocarditis, Pericarditis, Sinusitis, Myocarditis, Arthritis ORPHA:3099
Severe Hemophilia A
Joint hemorrhage, Joint swelling, Synovitis, Progressive joint destruction, Limitation of joint m... ORPHA:169802
Reactive Arthritis
Inflammation of the large intestine, Pustule, Pericarditis, Joint swelling, Enthesitis, Conjuncti... ORPHA:29207
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG with persistent abnormal rhythmic activity, D... ORPHA:206443
Hyperimmunoglobulinemia D With Periodic Fever
Peritonitis, Recurrent aphthous stomatitis, Limitation of joint mobility, Arthritis ORPHA:343
Osteomyelitis, Myelitis, Pericarditis, Flexion contracture, Uveitis, Finger swelling, Abnormal ph... ORPHA:801
Glycogen Storage Disease Vii
Gout OMIM:232800
Farber Disease
Abnormality of the knee, Osteoporosis, Joint swelling, Short finger, Abnormality of the elbow, Fl... ORPHA:333
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Erythroderma, Glomerulonephritis, Hepatitis, Eczema, Arthritis OMIM:304790
Reynolds Syndrome
Skin rash, Keratoconjunctivitis sicca, Encephalitis, Arthritis ORPHA:779
Skin rash, Osteolysis, Joint swelling, Ankle joint effusion, Pedal edema, Stiff interphalangeal j... ORPHA:324625
Moderate Hemophilia A
Joint hemorrhage, Joint swelling, Synovitis, Hip contracture, Limitation of joint mobility, Arthr... ORPHA:169805
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Gout, Arthritis ORPHA:411543
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic disc pallor OMIM:619260
Diffuse Cutaneous Systemic Sclerosis
Narrow foramen obturatorium, Osteolysis, Flexion contracture, Arthritis ORPHA:220393
Wiedemann-Rautenstrauch Syndrome
Hip dysplasia, Camptodactyly of finger, Joint hypermobility, Short femur, Hypoplastic ilia, 2-3 t... ORPHA:3455
Whipple Disease
Pericarditis, Pedal edema, Uveitis, Encephalitis, Myocarditis, Myositis, Arthritis ORPHA:3452
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Chronic oral candidiasis, Clinodactyly of the 4th finger, Cone-shaped epiphysis, Broad middle pha... ORPHA:221139
Mucopolysaccharidosis Type 2
Hip dysplasia, Hip osteoarthritis, Flexion contracture of digit, Abnormal epiphyseal ossification... ORPHA:580
Loeys-Dietz Syndrome 3
Intervertebral disc degeneration, Protrusio acetabuli, Craniosynostosis, Joint laxity, Hip osteoa... OMIM:613795
Medullary cystic kidney disease 2
Gout, Tubulointerstitial nephritis OMIM:603860
Peritonitis, Bronchiectasis, Panniculitis, Maculopapular exanthema, Pneumonia, Keratitis, Fasciit... ORPHA:228119
Eosinophilic Granulomatosis With Polyangiitis
Skin rash, Endocarditis, Increased inflammatory response, Sinusitis, Tubulointerstitial nephritis... ORPHA:183
Arthrogryposis, Distal, Type 2A
Hearing impairment, Abnormal auditory evoked potentials OMIM:193700
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Relapsing Polychondritis
Chondritis of pinna, Chondritis, Scleritis, Pericarditis, Uveitis, Conjunctivitis, Hepatitis, Ker... ORPHA:728
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Absent brainstem auditory responses ORPHA:3240
Pyoderma Gangrenosum
Inflammation of the large intestine, Pustule, Rheumatoid arthritis, Myositis ORPHA:48104
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Arthritis ORPHA:411536
Femoral-Facial Syndrome
Short fifth metatarsal, Preaxial hand polydactyly, Humeroradial synostosis, Radioulnar synostosis... OMIM:134780
Cryoglobulinemic Vasculitis
Viral hepatitis, Keratoconjunctivitis sicca, Arthritis ORPHA:91138
Adiposis Dolorosa
Recurrent skin infections, Arthritis ORPHA:36397
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Peritonitis, Skin rash, Pericarditis, Uveitis, Orchitis, Arthritis, Erysipelas, Conjunctivitis, F... ORPHA:32960
Pediatric Systemic Lupus Erythematosus
Skin rash, Discoid lupus rash, Malar rash, Myositis, Nephritis, Arthritis ORPHA:93552
Localized Scleroderma
Esophagitis, Sclerosis of finger phalanx, Flexion contracture, Uveitis, Hashimoto thyroiditis, Fa... ORPHA:90289
Hereditary Xanthinuria
Gout, Rheumatoid arthritis, Arthropathy ORPHA:3467
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypoplasia of the semicircular canal, Abnormal autonomic nervous system physiology, Long-segment ... OMIM:609136
8Q24.3 Microdeletion Syndrome
Hip dysplasia, Short hallux, Rocker bottom foot, Short femur, Congenital hip dislocation, Joint l... ORPHA:508488
Familial Osteodysplasia, Anderson Type
Elbow dislocation, Recurrent fractures, Aplasia/hypoplasia of the femur, Increased susceptibility... ORPHA:2769
Phosphoribosylpyrophosphate Synthetase Superactivity
Gout OMIM:300661
Adult-Onset Autosomal Dominant Leukodystrophy
Autonomic bladder dysfunction, Orthostatic hypotension, Abnormal autonomic nervous system physiol... ORPHA:99027
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic nerve hypoplasia, De... ORPHA:101085
Systemic Sclerosis
Osteomyelitis, Joint swelling, Pericarditis, Flexion contracture, Finger swelling, Abnormal phala... ORPHA:90291
Peritonitis, Skin rash, Abnormality of long bone morphology, Osteolysis, Folliculitis, Pericardit... ORPHA:228123
Chondrocalcinosis, Pericarditis, Arthritis ORPHA:732
Infantile Krabbe Disease
Hearing impairment, Prolonged brainstem auditory evoked potentials, Optic atrophy, Decreased nerv... ORPHA:206436
Sweet Syndrome
Inflammation of the large intestine, Pustule, Panniculitis, Oligoarthritis, Myositis, Acne invers... ORPHA:3243
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Gout ORPHA:79233
Lymphatic Filariasis
Epididymitis, Lymphadenitis, Orchitis, Glomerulonephritis, Ankle swelling, Knee osteoarthritis ORPHA:2035
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Large iliac wing, Abnormality of the metacarpal bones, Abnormality of the metaphysis, Aplastic cl... ORPHA:2636
Peritonitis, Acute colitis, Uveitis, Pneumonia, Ulcerative colitis, Conjunctivitis, Myocarditis, ... ORPHA:810
Cockayne Syndrome Type 1
Macrotia, Hearing impairment, Absent brainstem auditory responses, Abnormality of peripheral nerv... ORPHA:90321
Trisomy 10P
Low voltage EEG, Macrotia, EEG with burst suppression, Posteriorly rotated ears, Abnormal auditor... ORPHA:171929
Hyper-Igd Syndrome
Skin rash, Chronic oral candidiasis, Lymphadenitis, Serositis, Arthritis OMIM:260920
Giant Cell Arteritis
Joint stiffness, Pericarditis, Arthritis ORPHA:397
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Joint swelling, Erythroderma, Colitis, Chronic hepatitis, C... ORPHA:3260
Juvenile Dermatomyositis
Skin rash, Pericarditis, Myositis, Limitation of joint mobility, Arthritis ORPHA:93672
Peritonitis, Pustule, Endocarditis, Pericarditis, Pyelonephritis, Arteritis, Cholecystitis, Pneum... ORPHA:533
Sitosterolemia 1
Arthritis OMIM:210250
Familial Mediterranean Fever
Peritonitis, Pericarditis, Orchitis, Erysipelas, Crohn's disease, Arthritis OMIM:249100
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Skin rash, Recurrent otitis media, Panniculitis, Recurrent sinusitis, Hashimoto thyroiditis, Ecze... OMIM:615688
Cerebrotendinous Xanthomatosis
Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Optic neuropathy, Decrease... ORPHA:909
Riddle Syndrome
Chronic sinusitis, Recurrent sinusitis, Pneumonia, Recurrent pneumonia, Otitis media, Arthritis ORPHA:420741
Lacrimoauriculodentodigital Syndrome
Hypoplasia of the radius, Abnormal thumb morphology, Toe syndactyly, Finger syndactyly, Keratocon... ORPHA:2363
Behçet Disease
Endocarditis, Pericarditis, Increased inflammatory response, Retrobulbar optic neuritis, Orchitis... ORPHA:117
Vascular Ehlers-Danlos Syndrome
Osteolysis, Congenital hip dislocation, Joint hyperflexibility, Periodontitis, Joint dislocation,... ORPHA:286
Immunoglobulin A Vasculitis
Skin rash, Pustule, Orchitis, Episcleritis, Encephalitis, Arthritis ORPHA:761
Primary Sjögren Syndrome
Parotitis, Arteritis, Chronic active hepatitis, Thyroiditis, Optic neuritis, Chronic hepatitis, A... ORPHA:289390
Catastrophic Antiphospholipid Syndrome
Arthritis, Myocarditis ORPHA:464343
Cockayne Syndrome A
Abnormality of the pinna, Abnormal auditory evoked potentials, Sensorineural hearing impairment, ... OMIM:216400
Kid Syndrome
Osteolysis, Palmoplantar keratoderma, Recurrent bacterial skin infections, Keratitis, Arthritis ORPHA:477
Oculocerebrorenal Syndrome Of Lowe
Genu valgum, Joint swelling, Abnormality of epiphysis morphology, Joint hyperflexibility, Periodo... ORPHA:534
Congenital Tufting Enteropathy
Punctate keratitis, Arthritis ORPHA:92050
Cockayne Syndrome B
Abnormality of the pinna, Abnormal auditory evoked potentials, Sensorineural hearing impairment, ... OMIM:133540
Hereditary Spherocytosis
Gout, Maculopapular exanthema ORPHA:822
Autoimmune Lymphoproliferative Syndrome
Thyroiditis, Panniculitis, Uveitis, Colitis, Glomerulonephritis, Hepatitis, Gastritis, Recurrent ... ORPHA:3261
Blau Syndrome
Camptodactyly of finger, Skin rash, Iridocyclitis, Pericarditis, Joint swelling, Retrobulbar opti... ORPHA:90340
Glycogen Storage Disease Ia
Osteoporosis, Gout, Pancreatitis OMIM:232200
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Chronic otitis media, Conjunctivitis, Keratitis, Sinusitis, ... ORPHA:906
22Q11.2 Deletion Syndrome
Seborrheic dermatitis, Hand polydactyly, Micrognathia, Joint hyperflexibility, Chronic otitis med... ORPHA:567
Kawasaki Disease
Skin rash, Pericarditis, Cheilitis, Conjunctivitis, Hepatitis, Cholecystitis, Myocarditis, Arthritis ORPHA:2331
Glycogen Storage Disease Ib
Osteoporosis, Gout, Pancreatitis OMIM:232220
Gout, Acute pancreatitis ORPHA:412
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Gout, Tubulointerstitial nephritis OMIM:174000
Tetrasomy 9P
Pericarditis, Micrognathia, Aplasia/Hypoplasia of the clavicles, Hypoplastic scapulae, Small hand... ORPHA:3310
Mucopolysaccharidosis Type 2, Severe Form
Hip dysplasia, Camptodactyly of finger, Flexion contracture, Limitation of joint mobility, Diaphy... ORPHA:217085
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteoporosis, Inflammation of the large intestine, Thyroiditis, Periodontitis, Ulcerative colitis... ORPHA:79259
Mucopolysaccharidosis Type 2, Attenuated Form
Hip dysplasia, Camptodactyly of finger, Flexion contracture, Limitation of joint mobility, Diaphy... ORPHA:217093
Inflammation of the large intestine, Skin rash, Chapped lip, Endocarditis, Lymphadenitis, Abnorma... ORPHA:707
Fabry Disease
Arthritis, Reduced bone mineral density, Abnormality of femur morphology ORPHA:324
Hereditary Sensory And Autonomic Neuropathy Type 4
Abnormality of lower limb joint, Painless fractures due to injury, Septic arthritis, Neuropathic ... ORPHA:642
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Iridocyclitis, Bronchiectasis, Uveitis, Clubbing, Arthritis OMIM:181000
Mend Syndrome
Abnormal auditory evoked potentials ORPHA:401973
Aicardi-Goutières Syndrome
Panniculitis, Chilblains, Multiple joint contractures, Myositis, Arthritis ORPHA:51
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Joint hyperflexibility, Arthritis ORPHA:93111
Arthritis, Chondrocalcinosis, Pericarditis, Myocarditis ORPHA:221
Infection-Related Hemolytic Uremic Syndrome
Acute colitis, Pneumonia, Septic arthritis, Pancreatitis, Myocarditis ORPHA:544482
Glycogen Storage Disease Ic
Gout, Chronic pancreatitis OMIM:232240
Pes planus, Chronic otitis media, Joint stiffness, Abnormality of the ulna, Arthritis ORPHA:93
Chronic Graft Versus Host Disease
Bronchiectasis, Urinary bladder inflammation, Flexion contracture, Keratoconjunctivitis sicca, Fa... ORPHA:99921
Gitelman Syndrome
Gout, Tubulointerstitial nephritis, Hashimoto thyroiditis, Chondrocalcinosis ORPHA:358
Noonan Syndrome 1
Cubitus valgus, Synovitis, Radial deviation of finger, Clinodactyly, Micrognathia, Brachydactyly OMIM:163950
Renal Cysts And Diabetes Syndrome
Gout OMIM:137920
Equinovarus deformity, Absent Achilles reflex, Peroneal muscle atrophy, Arthritis ORPHA:2388


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 Epyc

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 Epyc.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A conditional knockout resource for the genome-wide study of mouse gene function. Nature (June 2011) Epyctm1a(KOMP)Wtsi PMC3572410

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MGI Allele Allele Type Produced
Epyctm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Epyctm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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