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Gene: Fgr MGI:95527

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

FGR proto-oncogene, Src family tyrosine kinase

Synonyms:

Ali18, Mhdaali18

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 Fgr mutations

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

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

Human diseases associated with Fgr (0 diseases)
Human diseases predicted to be associated with Fgr (650 diseases)

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

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

Disease	Matching phenotypes	Source
Acne Inversa, Familial, 3	Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa	OMIM:613737
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
Talo-Patello-Scaphoid Osteolysis	Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, O...	ORPHA:50809
Mueller-Weiss Syndrome	Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Tibiofibular diastasis...	ORPHA:566943
Cranio-Osteoarthropathy	Abnormality of the knee, Eczema, Joint stiffness, Osteoarthritis, Abnormal tibia morphology, Club...	ORPHA:1525
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals	Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, Osteolysis of pate...	OMIM:609655
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Increased inflammatory response, Protrusio acetabuli, Abnormal femoral head morpholog...	ORPHA:2619
Hip Dysplasia, Beukes Type	Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea...	ORPHA:2114
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul...	OMIM:607078
Multiple Epiphyseal Dysplasia Type 1	Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital...	ORPHA:93308
Epiphyseal Dysplasia, Multiple, 3	Epiphyseal dysplasia, Short metacarpal, Abnormal hip joint morphology, Osteoarthritis, Delayed ep...	OMIM:600969
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Symmetric polyarthritis, Limitation of joint mobility, Abnormal limb bone morphology,...	ORPHA:85435
Acne Inversa, Familial, 1	Acne inversa	OMIM:142690
Melorheostosis With Osteopoikilosis	Hypertension, Osteopoikilosis, Abnormal cortical bone morphology, Complete duplication of the dis...	ORPHA:1879
Chilblain Lupus 2	Chilblains	OMIM:614415
Eiken Syndrome	Short palm, Abnormal trabecular bone morphology, Epiphyseal dysplasia, Abnormal acetabulum morpho...	ORPHA:79106
Angel-Shaped Phalangoepiphyseal Dysplasia	Hyperextensibility of the finger joints, Pseudoepiphyses of the metacarpals, Premature osteoarthr...	OMIM:105835
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo...	ORPHA:1802
Pseudoachondroplasia	Limited hip extension, Distal joint laxity, Osteoarthritis, Delayed epiphyseal ossification, Gene...	ORPHA:750
Epiphyseal Dysplasia, Multiple, 1	Epiphyseal dysplasia, Short metacarpal, Joint stiffness, Avascular necrosis of the capital femora...	OMIM:132400
Immunodeficiency 51	Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic mucocutaneous candidiasis, Recurre...	OMIM:613953
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Abnormality of the epiphyses of the elbow, Abnormality of the knee, Abnormal patella morphology, ...	ORPHA:166002
Linear Atrophoderma Of Moulin	Pruritus, Inflammatory abnormality of the skin	ORPHA:140933
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	Flattened metatarsal heads, Arthropathy, Generalized morning stiffness, Coxa vara, Arthritis, Con...	OMIM:208250
Beukes Hip Dysplasia	Flat capital femoral epiphysis, Avascular necrosis of the capital femoral epiphysis, Osteoarthrit...	OMIM:142669
Sclerosteosis	Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, 2-3 finger syndacty...	ORPHA:3152
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Osteoporosis, Abnorma...	ORPHA:93351
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t...	ORPHA:3416
Gnathodiaphyseal Dysplasia	Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Thickened co...	ORPHA:53697
Developmental Dysplasia Of The Hip 2	Hip osteoarthritis, Arthritis, Hip dysplasia, Coxa valga	OMIM:615612
Benign Cephalic Histiocytosis	Inflammatory abnormality of the skin, Skin rash	ORPHA:157997
Hereditary Sensory And Autonomic Neuropathy Type 2	Abnormality of the knee, Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral de...	ORPHA:970
Peripheral Dysostosis	Joint stiffness, Osteoarthritis, Cone-shaped epiphyses of the phalanges of the hand, Clinodactyly...	ORPHA:1795
Eng-Strom Syndrome	Arthritis, Camptodactyly of finger, Brachydactyly	ORPHA:1937
Dissecting Cellulitis Of The Scalp	Pruritus, Recurrent skin infections	ORPHA:345
Osteoarthritis Susceptibility 3	Osteoarthritis, Osteoarthritis of the distal interphalangeal joint, Joint stiffness, Osteoarthrit...	OMIM:607850
Progressive Pseudorheumatoid Dysplasia	Arthropathy, Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Joint ...	OMIM:208230
Epiphyseal Dysplasia, Multiple, 6	Abnormality of the knee, Flat distal femoral epiphysis, Flat capital femoral epiphysis, Osteoarth...	OMIM:614135
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Pruritus, Abnormal sacroiliac joint morp...	ORPHA:324964
Brachydactyly, Type A1	Flattened metatarsal heads, Short metacarpal, Brachydactyly, Proportionate shortening of all digi...	OMIM:112500
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bo...	ORPHA:2790
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c...	ORPHA:93320
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum...	OMIM:600785
Peripheral Dysostosis	Hip osteoarthritis, Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand	OMIM:170700
Spondyloepiphyseal Dysplasia, Nishimura Type	Osteoarthritis, Delayed epiphyseal ossification, Small hand, Cone-shaped epiphysis, Brachydactyly	OMIM:618618
Angel-Shaped Phalango-Epiphyseal Dysplasia	Short 1st metacarpal, Joint hyperflexibility, Hip dysplasia, Short middle phalanx of finger, Abno...	ORPHA:63442
Metaphyseal Chondrodysplasia, Spahr Type	Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Metaphyseal chondrodyspl...	ORPHA:2501
Familial Avascular Necrosis Of Femoral Head	Hip osteoarthritis, Flattened femoral head, Limited hip movement, Abnormal femoral neck/head morp...	ORPHA:86820
Pseudoachondroplasia	Limited hip extension, Genu recurvatum, Osteoarthritis, Delayed epiphyseal ossification, Metaphys...	OMIM:177170
Ichthyosis, Congenital, Autosomal Recessive 7	Palmoplantar keratoderma, Erythroderma	OMIM:615022
Kerion Celsi	Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent skin infec...	ORPHA:499
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Micromelia, Short toe, Osteoarthritis, Abnormality of th...	ORPHA:429
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros...	ORPHA:85188
Progressive Osseous Heteroplasia	Osteoarthritis, Limitation of joint mobility, Ectopic ossification in muscle tissue, Brachydactyly	ORPHA:2762
Brachydactyly Type C	Stippling of the epiphysis of the distal phalanx of the thumb, Short metatarsal, Symphalangism af...	ORPHA:93384
Pityriasis Rubra Pilaris	Eczema, Pruritus, Pustule, Palmoplantar keratoderma, Erythroderma	ORPHA:2897
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Acne, Seborrheic dermatitis, Clubbing, Hyperostosis, Periostosis	OMIM:614441
Pyle Disease	Metaphyseal dysplasia, Metaphyseal widening, Reduced bone mineral density, Genu valgum, Cubitus v...	OMIM:265900
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Metaphyseal dysplasia, Bowing of the legs, Reduced bone mineral density, Delayed ossification of ...	OMIM:617974
Erythrokeratodermia Variabilis Et Progressiva 1	Patchy palmoplantar hyperkeratosis, Erythroderma	OMIM:133200
Albers-Schönberg Osteopetrosis	Joint dislocation, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized oste...	ORPHA:53
Epidermolytic Hyperkeratosis 1	Palmoplantar hyperkeratosis, Erythroderma	OMIM:113800
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Wormian bones...	ORPHA:166277
Dysplasia Epiphysealis Hemimelica	Abnormal femoral neck morphology, Tarsal synostosis, Recurrent fractures, Joint stiffness, Osteoa...	ORPHA:1822
Osteoarthritis Susceptibility 2	Osteoarthritis, Heberden's node	OMIM:140600
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Hip contracture, Abnormality of the knee, Broad radial metaphysis, Protrusio acetabuli, Broad fem...	ORPHA:99642
Spondyloepimetaphyseal Dysplasia, Irapa Type	Metaphyseal dysplasia, Short metacarpal, Capitate-hamate fusion, Osteoarthritis, Short metatarsal...	OMIM:271650
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Osteopenia, Joint laxity, Hallux valgus, Contracture of the proximal interphalangeal joint of the...	OMIM:130060
Epiphyseal Dysplasia, Multiple, 2	Epiphyseal dysplasia, Tibial torsion, Knee osteoarthritis, Flattened epiphysis, Irregular epiphys...	OMIM:600204
Slipped Femoral Capital Epiphyses	Hip osteoarthritis, Proximal femoral epiphysiolysis	OMIM:182260
Chronic Actinic Dermatitis	Late onset atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Erythroderma	ORPHA:330064
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Hip osteoarthritis, Osteoarthritis, Flattened metacarpal heads, Flattened metatarsal heads	OMIM:271600
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Osteopenia, Arthropathy, Seborrheic dermatitis, Limitation of joint mobility, Osteoporosis, Clubb...	OMIM:259100
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Arthritis, Nephritis	OMIM:216950
Kienbock Disease	Osteoarthritis, Limitation of joint mobility, Osteochondritis dissecans, Abnormality of the wrist	ORPHA:97332
Melorheostosis	Increased bone mineral density, Joint stiffness, Upper limb asymmetry, Arthritis, Hyperostosis, E...	ORPHA:2485
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome	Short thumb, Osteoarthritis, Brachydactyly	ORPHA:435804
Wild Type Abeta2M Amyloidosis	Gastrointestinal hemorrhage, Arthropathy, Congestive heart failure, Bone cyst, Abnormal shoulder ...	ORPHA:85446
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Limb undergrowth, Increased bone mineral density, Abnormal cortical bone morphology, Abnormal lim...	ORPHA:2204
Multiple Epiphyseal Dysplasia, Beighton Type	Abnormal metacarpophalangeal joint morphology, Abnormality of tibial epiphyses, Abnormal acetabul...	ORPHA:166011
Epidermolytic Hyperkeratosis 2	Palmoplantar keratoderma, Palmoplantar hyperkeratosis, Erythroderma	OMIM:620150
Coronary Artery Disease, Autosomal Dominant 2	Sudden cardiac death, Myocardial infarction, Osteoporosis, Gout, Hypertension	OMIM:610947
Intellectual Developmental Disorder, Fra12A Type	Erythroderma	OMIM:136630
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Hip osteoarthritis, Abnormal epiphysis morphology of the phalanges of the hand, Brachydactyly	OMIM:619248
Paget Disease, Extramammary	Eczematoid dermatitis	OMIM:167300
Thiemann Disease	Broad phalanx, Short phalanx of finger	OMIM:165700
Multiple Epiphyseal Dysplasia Type 4	Abnormal hand morphology, Metaphyseal widening, Flexion contracture, Short metatarsal, Coxa vara,...	ORPHA:93307
Familial Expansile Osteolysis	Pathologic fracture, Bowing of the long bones, Osteolysis, Thin bony cortex	OMIM:174810
Erythroderma, Lethal Congenital	Congenital exfoliative erythroderma	OMIM:227090
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Telangiectasia of the...	ORPHA:75508
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
Desbuquois Dysplasia 1	Joint dislocation, Triangular shaped phalanges of the hand, Osteoarthritis, Metaphyseal widening,...	OMIM:251450
Dysspondyloenchondromatosis	Joint dislocation, Enlarged joints, Osteoarthritis, Generalized joint laxity, Abnormal fibula mor...	ORPHA:85198
Dermatoosteolysis, Kirghizian Type	Tarsal synostosis, Abnormality of the hand, Abnormality of the wrist, Keratitis, Osteoarthritis, ...	ORPHA:1657
Multiple Epiphyseal Dysplasia Type 5	Osteoarthritis of the small joints of the hand, Decreased hip abduction, Abnormal upper limb epip...	ORPHA:93311
Isolated Osteopoikilosis	Syndactyly, Increased bone mineral density, Abnormally ossified vertebrae, Abnormal pelvis bone m...	ORPHA:166119
Grant Syndrome	Joint dislocation, Bowing of the long bones, Decreased skull ossification, Joint hyperflexibility...	ORPHA:2097
Pachydermoperiostosis	Gastrointestinal hemorrhage, Osteomyelitis, Acne, Seborrheic dermatitis, Limitation of joint mobi...	ORPHA:2796
Osteogenesis Imperfecta, Type Xxii	Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Reduced bone mineral ...	OMIM:619795
Ichthyosis Hystrix Of Curth-Macklin	Diffuse palmoplantar hyperkeratosis, Autoamputation of digits, Recurrent skin infections	ORPHA:79503
Bullous Diffuse Cutaneous Mastocytosis	Pruritus, Erythroderma	ORPHA:280785
Osteoarthritis With Mild Chondrodysplasia	Hip osteoarthritis, Knee osteoarthritis, Heberden's node, Joint stiffness	OMIM:604864
Ichthyosis, Congenital, Autosomal Recessive 10	Palmoplantar keratoderma, Erythroderma	OMIM:615024
Mucopolysaccharidosis, Type Ix	Hyperextensibility at elbow, Acetabular erosions, Periarticular soft-tissue mass, Synovitis, Hype...	OMIM:601492
Metatropic Dysplasia	Camptodactyly of finger, Micromelia, Joint stiffness, Abnormal enchondral ossification, Halberd-s...	ORPHA:2635
Dracunculiasis	Recurrent cutaneous abscess formation, Skin rash, Pruritus, Flexion contracture, Limitation of jo...	ORPHA:231
Spondylometaphyseal Dysplasia, Pagnamenta Type	Thin bony cortex, Rhizomelia, Femoral bowing, Wormian bones, Short 4th metacarpal, Broad thumb, S...	OMIM:619638
Hypertension And Brachydactyly Syndrome	Short metacarpal, Cone-shaped epiphysis, Hypertension, Short phalanx of finger, Type E brachydactyly	OMIM:112410
Caffey Disease	Cortical irregularity, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bo...	OMIM:114000
Wahab Syndrome	Short palm, Syndactyly, Short metacarpal, Ankylosis, Short thumb, Short foot, Camptodactyly, Clin...	OMIM:615170
Ankylosing Vertebral Hyperostosis With Tylosis	Osteoarthritis, Abnormal pelvis bone morphology, Palmoplantar keratoderma	ORPHA:2206
Spondyloepiphyseal Dysplasia, Kimberley Type	Osteoarthritis, Abnormal epiphysis morphology, Micromelia	ORPHA:93283
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met...	ORPHA:93314
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa	OMIM:613736
Chilblain Lupus 1	Autoamputation of digits, Chilblains	OMIM:610448
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	Clubbing of fingers, Periosteal thickening of long tubular bones, Acne, Seborrheic dermatitis	OMIM:167100
Familial Reactive Perforating Collagenosis	Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Pruritus, Crusti...	ORPHA:79147
Farber Lipogranulomatosis	Osteolysis involving bones of the feet, Hyperextensibility of the finger joints, Ulnar deviation ...	OMIM:228000
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Osteoarthritis, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bow...	OMIM:602111
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Perifolliculitis	OMIM:260910
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Fractures of the long ...	OMIM:166600
Spondyloepiphyseal Dysplasia Tarda	Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux, Limited e...	ORPHA:93284
Verrucous Hemangioma	Inflammatory abnormality of the skin	ORPHA:464318
Vertical Talus, Congenital	Arthritis, Calcaneovalgus deformity, Rocker bottom foot, Equinus calcaneus	OMIM:192950
Glycoprotein Storage Disease	Gout	OMIM:232900
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Rickets, Trapezoi...	OMIM:307800
Brachydactyly-Syndactyly Syndrome	Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,...	OMIM:610713
Roifman-Chitayat Syndrome	Osteopenia, Short metacarpal, Pneumonia, Short metatarsal, Cone-shaped epiphysis, Arthritis	OMIM:613328
Mal De Meleda	Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Ab...	ORPHA:87503
Ophthalmomandibulomelic Dysplasia	Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of joint mobility, Lateral hum...	ORPHA:2741
Osebold-Remondini Syndrome	Decreased finger mobility, Broad toe, Dysplastic distal radial epiphyses, Hypoplasia of the ulna,...	OMIM:112910
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Increased inflammatory response, Pericarditis, Camptodactyly of finger, Wrist swelling, Polyartic...	ORPHA:2848
Brachydactyly-Arterial Hypertension Syndrome	Hypertension, Short metacarpal, Short phalanx of finger, Brachydactyly	ORPHA:1276
Ichthyosis With Confetti	Pruritus, Clubbing, Palmoplantar hyperkeratosis, Erythroderma	OMIM:609165
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Sapho Syndrome	Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Recurrent skin infections, Pustule, Recu...	ORPHA:793
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection	Chronic furunculosis, Cutaneous abscess	OMIM:619986
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Abnormal metatarsal morphology, Generalized joint laxity, Delayed epiphyseal ossification, Multip...	ORPHA:93360
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Delayed ep...	OMIM:600081
Brachydactyly-Syndactyly, Zhao Type	Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy...	ORPHA:93409
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small...	ORPHA:93356
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Epiphyseal dysplasia, Brachydactyly, Metaphyseal dysplasia, Single transverse palmar crease, Coxa...	OMIM:617425
Gnathodiaphyseal Dysplasia	Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus...	OMIM:166260
Brachydactyly Type E	Short metacarpal, Aplasia/Hypoplasia of the distal phalanx of the hallux, Short metatarsal, Upper...	ORPHA:93387
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Acne, Elbow flexion contracture, Sterile arthritis, Knee flexion contracture, Arthritis, Colitis,...	OMIM:604416
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Broad hallux, Limited elbow extension, Short metatarsal, Flattened epiphy...	ORPHA:1856
Congenital Ichthyosiform Erythroderma	Keratitis, Palmoplantar keratoderma, Erythroderma, Pruritus	ORPHA:79394
Candidiasis, Familial, 8	Chronic oral candidiasis, Blepharitis, Cheilitis, Seborrheic dermatitis	OMIM:615527
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Arthropathy, Eczema, Craniosynostosis, Keratitis, Clubbing, Bronchiectasis, Hip dislocation, Recu...	OMIM:618523
Schnitzler Syndrome	Increased bone mineral density, Skin rash, Pruritus, Vasculitis, Arthritis	ORPHA:37748
Erythroderma Desquamativum	Seborrheic dermatitis	ORPHA:314
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Otospondylomegaepiphyseal Dysplasia	Epiphyseal dysplasia, Abnormally ossified vertebrae, Short metacarpal, Sandal gap, Abnormal pelvi...	ORPHA:1427
Enthesitis-Related Juvenile Idiopathic Arthritis	Aortic regurgitation, Anterior uveitis, Finger dactylitis, Abnormal metacarpophalangeal joint mor...	ORPHA:85438
Split-Hand/Foot Malformation 2	Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger	OMIM:313350
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Abnormal metacarpophalangeal joint morphology, Ankle swelling, Abnormal metatarsal morphology, Jo...	ORPHA:85408
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Arthritis, Otitis media, ...	ORPHA:229717
Odontochondrodysplasia 1	Short metacarpal, Brachydactyly, Genu recurvatum, Micromelia, Metaphyseal widening, Osteoporosis,...	OMIM:184260
Chondrocalcinosis 2	Arthropathy, Polyarticular chondrocalcinosis, Osteoarthritis	OMIM:118600
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction	Short metacarpal, Short hallux, Hallux varus, Short thumb, Short metatarsal, Hitchhiker thumb, Sh...	OMIM:112450
Trichorhinophalangeal Syndrome, Type Iii	Osteopenia, Short metacarpal, Avascular necrosis of the capital femoral epiphysis, Short metatars...	OMIM:190351
Erythema Nodosum, Familial	Erythema nodosum	OMIM:132990
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Enlargement of the ankles, Osteomalacia, Recurrent fractures, Bowing of the le...	OMIM:300554
Caffey Disease	Calvarial hyperostosis, Cortical thickening of long bone diaphyses, Cortical irregularity, Perios...	ORPHA:1310
Otopalatodigital Syndrome Type 1	Increased bone mineral density, Bowing of the long bones, Sandal gap, Proximal placement of thumb...	ORPHA:90650
Chilblain Lupus	Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Finger swelling, Pruritis on...	ORPHA:90280
Jackson-Weiss Syndrome	Broad hallux, Calcaneonavicular fusion, Craniosynostosis, Hallux varus, Broad first metatarsal, 2...	OMIM:123150
Harlequin Ichthyosis	Sudden cardiac death, Limitation of joint mobility, Hand polydactyly, Foot polydactyly, Erythroderma	ORPHA:457
Peeling Skin Syndrome 1	Pruritus, Palmoplantar hyperhidrosis, Erythroderma	OMIM:270300
Autosomal Dominant Epidermolytic Ichthyosis	Palmoplantar keratoderma, Erythroderma	ORPHA:312
Mucolipidosis Type Iii	Craniofacial hyperostosis, Acne, Joint stiffness, Reduced bone mineral density, Abnormal hip bone...	ORPHA:577
Pseudopseudohypoparathyroidism	Short distal phalanx of the 3rd finger, Short metatarsal, Short 5th finger, Short distal phalanx ...	ORPHA:79445
Majeed Syndrome	Inflammatory abnormality of the skin, Osteomyelitis, Acne, Increased bone mineral density, Pustul...	ORPHA:77297
Lethal Congenital Contracture Syndrome Type 1	Recurrent fractures, Limitation of joint mobility, Abnormality of the elbow, Slender long bone, A...	ORPHA:1486
Chromosome 8Q22.1 Duplication Syndrome	Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea...	OMIM:151200
Brachydactyly-Preaxial Hallux Varus Syndrome	Short metacarpal, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Broad thumb, Bra...	ORPHA:1278
Immunodeficiency 15A	Chronic mucocutaneous candidiasis, Recurrent sinusitis, Recurrent otitis media, Acne inversa, Cut...	OMIM:618204
Gorham-Stout Disease	Osteopenia, Osteomyelitis, Abnormal pelvis bone morphology, Osteolysis involving bones of the upp...	ORPHA:73
Congenital Atransferrinemia	Arthritis	ORPHA:1195
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Arthropathy, Abnormal hand morphology, Sclerotic cranial sutures, Osteolysis involvin...	ORPHA:371428
Ck Syndrome	Abnormal cortical bone morphology, Abnormal digit morphology, Joint hypermobility	OMIM:300831
X-Linked Dominant Chondrodysplasia Punctata	Abnormally ossified vertebrae, Neonatal epiphyseal stippling, Flexion contracture, Anterior rib p...	ORPHA:35173
Brachydactyly Type B	Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas...	ORPHA:93383
X-Linked Hypophosphatemia	Shortening of the talar neck, Bowing of the long bones, Craniosynostosis, Bowing of the legs, Gen...	ORPHA:89936
Psoriasis-Related Juvenile Idiopathic Arthritis	Finger dactylitis, Anterior uveitis, Abnormality of the knee, Psoriasiform dermatitis, Skin rash,...	ORPHA:85436
Alpha-Mannosidosis	Craniofacial hyperostosis, Bowing of the long bones, Arthritis, Hip dysplasia, Hypoplastic inferi...	ORPHA:61
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Acromesomelic Dysplasia 2B	Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Short metatarsal, Fibular hyp...	OMIM:228900
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Epiphyseal dysplasia, Enlarged epiphyses, Premature osteoarthritis	OMIM:184840
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Osteoarthritis, Abnormal metacarpal morphology	ORPHA:166100
Bullous Impetigo	Pustule, Recurrent bacterial skin infections, Septic arthritis	ORPHA:36237
Ichthyosis, Congenital, Autosomal Recessive 5	Palmar hyperlinearity, Palmoplantar keratoderma, Erythroderma	OMIM:604777
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Delayed ep...	OMIM:241530
Endosteal Hyperostosis, Autosomal Dominant	Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal sclerosis, ...	OMIM:144750
Ichthyosis, Hystrix-Like, With Deafness	Punctate keratitis, Palmoplantar keratoderma, Palmoplantar hyperkeratosis, Erythroderma	OMIM:602540
Seborrhea-Like Dermatitis With Psoriasiform Elements	Seborrheic dermatitis	OMIM:610227
Rhizomelic Syndrome, Urbach Type	Abnormality of the knee, Brachydactyly, Rhizomelia, Acne, Abnormality of the humerus, Preaxial ha...	ORPHA:3098
Melnick-Needles Syndrome	Craniofacial hyperostosis, Bowing of the long bones, Coxa valga, Hip dislocation, Cone-shaped epi...	ORPHA:2484
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion cont...	OMIM:259600
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Increased bone mineral density, Broad femoral neck, Short tubular bones of the hand, ...	ORPHA:85184
Nail-Patella Syndrome	Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology, Patellar hypoplasia, R...	ORPHA:2614
Wt Limb-Blood Syndrome	Ulnar deviation of the 3rd finger, Absent thumb, Short thumb, Radioulnar synostosis, Joint contra...	OMIM:194350
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Cone-shaped epiphyses o...	OMIM:606895
Familial Calcium Pyrophosphate Deposition	Joint dislocation, Osteoarthritis, Limitation of joint mobility, Arthritis, Joint swelling, Chond...	ORPHA:1416
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Osteopenia, Joint laxity, Short metacarpal, Camptodactyly of finger, Tapered finger, Flat capital...	OMIM:612350
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones	OMIM:239100
Epidermodysplasia Verruciformis	Pustule, Recurrent skin infections, Seborrheic dermatitis	ORPHA:302
C1Q Deficiency 2	Chilblains, Discoid lupus rash, Bronchiectasis, Arthritis, Vasculitis in the skin, Recurrent otit...	OMIM:620321
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Bowing of the long bones, Joint hypermobility, Recurrent fractures, Femoral bowing,...	OMIM:617952
Idiopathic Non-Lupus Full-House Nephropathy	Skin rash, Glomerulonephritis, Synovitis, Arthritis, Hypertension, Serositis	ORPHA:567544
Acromicric Dysplasia	Short metacarpal, Cone-shaped epiphysis, Short foot, Short long bone, Short palm, Fifth metacarpa...	OMIM:102370
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Enlarged joints, Large tarsal bones, Premature osteoarthritis, Recurrent pn...	OMIM:215150
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Postaxial polydactyly, Epiphyseal stippling, Abnormal pelvic girdle bone morphology, ...	OMIM:302960
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic...	OMIM:166740
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Brachydactyly, Acne, Lower limb undergrowth, Bowing of the legs	OMIM:612847
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Subperiost...	OMIM:264700
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short metatarsal, Hypoplasia of the ulna, Short metacarpa...	OMIM:271700
Heyn-Sproul-Jackson Syndrome	Short metacarpal, Broad phalanx, Short phalanx of finger, Broad metacarpals	OMIM:618724
Inflammatory Bowel Disease 28, Autosomal Recessive	Perianal abscess, Enterocolitis, Folliculitis, Pyoderma, Colitis, Crohn's disease	OMIM:613148
Aplasia Cutis Congenita	Finger syndactyly, Toe syndactyly, Abnormality of bone mineral density	ORPHA:1114
Vitamin D-Dependent Rickets, Type 2A	Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Subperiost...	OMIM:277440
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Proximal phalangeal periosteal thickening, Clubbing, Osteolytic defects of the phalanges of the h...	OMIM:161700
Omenn Syndrome	Pneumonia, Pruritus, Short toe, Thyroiditis, Erythroderma, Abnormal metaphysis morphology	ORPHA:39041
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Bowing of the legs, Delayed epiphyseal ossification, Premature osteoarthritis, Meta...	ORPHA:93352
Ichthyosis Prematurity Syndrome	Pruritus, Allergic rhinitis, Erythroderma	OMIM:608649
Quinquaud Folliculitis Decalvans	Pustule, Recurrent skin infections	ORPHA:346
Lymphatic Malformation 3	Recurrent skin infections	OMIM:613480
Ruvalcaba Syndrome	Short metacarpal, Micromelia, Limited elbow extension, Short metatarsal, Small hand, Short foot, ...	OMIM:180870
Ichthyosis, Congenital, Autosomal Recessive 9	Palmar hyperlinearity, Erythroderma	OMIM:615023
Inflammatory Skin And Bowel Disease, Neonatal, 1	Pustule, Blepharitis, Erythroderma	OMIM:614328
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Pulmonary embolism, Joint stiffness, Congestive heart failure, Osteoarthritis, Hypertension, Hype...	ORPHA:1345
Smith-Mccort Dysplasia 2	Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Broad metatarsal, Limited ...	OMIM:615222
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Epiphyseal dysplasia, Coxa valga, Genu valgum, Short phalanx of finger, Brachydactyly	OMIM:132450
Stuve-Wiedemann Syndrome 2	Bowing of the long bones, Eczema, Congestive heart failure, Short long bone, Camptodactyly, Pulmo...	OMIM:619751
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ...	OMIM:201250
Bathing Suit Ichthyosis	Autoamputation of digits, Multiple joint contractures, Palmoplantar hyperkeratosis, Erythroderma	ORPHA:100976
Chondrocalcinosis 1	Osteoarthritis, Chondrocalcinosis	OMIM:600668
Dent Disease 1	Bulging epiphyses, Enlargement of the ankles, Osteomalacia, Recurrent fractures, Bowing of the le...	OMIM:300009
Ige Responsiveness, Atopic	Eczema, Allergic rhinitis	OMIM:147050
Congenital Pseudoarthrosis Of The Clavicle	Congenital pseudoarthrosis of the clavicle, Osteoarthritis	ORPHA:66630
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,...	OMIM:601438
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Pneumonia, Recurrent pneumonia, Hepatitis, Otitis media, Erythroderma	ORPHA:169160
Congenital Lethal Erythroderma	Congenital exfoliative erythroderma	ORPHA:1954
Papa Syndrome	Increased inflammatory response, Myositis, Acne, Pustule, Limitation of joint mobility, Arthritis...	ORPHA:69126
Coxoauricular Syndrome	Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral density, Abnormal pe...	ORPHA:1508
Trichorhinophalangeal Syndrome, Type I	Osteopenia, Short metacarpal, Ivory epiphyses of the distal phalanges of the hand, Swelling of pr...	OMIM:190350
Erythrokeratodermia Variabilis Et Progressiva 6	Pruritus, Superficial dermal perivascular inflammatory infiltrate	OMIM:618531
Zika Virus Disease	Maculopapular exanthema, Skin rash, Ankle swelling, Pruritus, Wrist swelling, Arthritis, Conjunct...	ORPHA:448237
Grubben-De Cock-Borghgraef Syndrome	Deviation of finger, Small hand, Eczema	ORPHA:2101
Alopecia-Intellectual Disability Syndrome 4	Erythroderma	OMIM:618840
Complement Component 5 Deficiency	Generalized seborrheic dermatitis	OMIM:609536
Immunodeficiency 66	Pustule, Recurrent skin infections	OMIM:618847
Pseudopseudohypoparathyroidism	Short metacarpal, Osteoporosis, Short metatarsal, Brachydactyly	OMIM:612463
Adams-Oliver Syndrome 3	Absent toe, Short metatarsal, 2-3 toe syndactyly, Short palm, Short distal phalanx of finger, Sho...	OMIM:614814
Ehlers-Danlos Syndrome, Hypermobility Type	Joint laxity, Osteoarthritis, Joint dislocation, Joint hypermobility	OMIM:130020
Osteopetrosis, Autosomal Dominant 1	Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Osteopetrosis, Calvarial oste...	OMIM:607634
Drug Reaction With Eosinophilia And Systemic Symptoms	Skin rash, Pustule, Myocarditis, Hepatitis, Thyroiditis, Tubulointerstitial nephritis, Interstiti...	ORPHA:139402
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Perianal abscess, Small hand, Broad finger, Clinodactyly, Short phalanx of finger, Brachydactyly	OMIM:614684
Agammaglobulinemia 9, Autosomal Recessive	Eczematoid dermatitis, Seborrheic dermatitis	OMIM:619693
Psoriasis 1, Susceptibility To	Arthritis, Psoriasiform dermatitis	OMIM:177900
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Cone-shaped...	OMIM:617102
Thrombocytopenia-Absent Radius Syndrome	Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phocomelia, Short p...	OMIM:274000
Pemphigus Foliaceus	Psoriasiform dermatitis, Pruritus, Pustule, Crusting erythematous dermatitis, Erythroderma	ORPHA:79481
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Arthritis, Conjunctivitis	OMIM:617772
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Hallux valgus, Osteoarthritis, Generalized joint laxity, Osteoporosis, Squared iliac ...	OMIM:618000
Rheumatoid Arthritis	Swan neck-like deformities of the fingers, Joint stiffness, Vasculitis, Joint swelling, Polyartic...	OMIM:180300
Familial Cold Autoinflammatory Syndrome 2	Erythema nodosum, Arthritis, Skin rash, Recurrent aphthous stomatitis	OMIM:611762
Idiopathic Hypereosinophilic Syndrome	Myelofibrosis, Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Colitis, Ankle swelling,...	ORPHA:3260
Stickler Syndrome Type 1	Joint hyperflexibility, Osteoarthritis, Abnormal epiphysis morphology, Abnormal vertebral epiphys...	ORPHA:90653
Smith-Mccort Dysplasia 1	Multicentric femoral head ossification, Short metacarpal, Iliac crest serration, Hypoplastic scap...	OMIM:607326
Absence Of Fingerprints-Congenital Milia Syndrome	Skin rash, Camptodactyly of finger	ORPHA:1658
Keratolytic Winter Erythema	Pustule	ORPHA:50943
Dermatitis, Atopic	Recurrent skin infections, Allergic rhinitis, Eczema, Pruritus, Atopic dermatitis, Conjunctivitis	OMIM:603165
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Osteopenia, Skin rash, Recurrent fractures, Craniosynostosis, Recurrent pneumonia, Chronic mucocu...	OMIM:147060
Acromesomelic Dysplasia 3	Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st metacarpal, Widene...	OMIM:609441
Acromesomelic Dysplasia 1	Joint laxity, Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Limited elbow extensi...	OMIM:602875
Spondyloarthropathy, Susceptibility To, 1	Aortic regurgitation, Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Infl...	OMIM:106300
Hypocalcemic Vitamin D-Dependent Rickets	Enlargement of the ankles, Wide cranial sutures, Osteomalacia, Irregular, rachitic-like metaphyse...	ORPHA:289157
Morgagni-Stewart-Morel Syndrome	Acne, Osteoarthritis, Osteoporosis, Hypertension, Hyperostosis frontalis interna	ORPHA:77296
Symptomatic Form Of Hfe-Related Hemochromatosis	Arthropathy, Abnormal metacarpophalangeal joint morphology, Portal hypertension, Joint stiffness,...	ORPHA:465508
Multicentric Reticulohistiocytosis	Arthritis	ORPHA:139436
Muckle-Wells Syndrome	Episcleritis, Skin rash, Camptodactyly of finger, Vasculitis, Uveitis, Arthritis, Conjunctivitis,...	ORPHA:575
Laron Syndrome	Short toe, Osteoarthritis, Abnormality of the elbow, Brachydactyly	ORPHA:633
Ichthyosis, Congenital, Autosomal Recessive 1	Palmoplantar hyperkeratosis, Erythroderma	OMIM:242300
Acrodysostosis 2 With Or Without Hormone Resistance	Short metacarpal, Short metatarsal, Advanced ossification of carpal bones, Cone-shaped epiphysis,...	OMIM:614613
Netherton Syndrome	Recurrent skin infections, Allergic rhinitis, Eczema, Chronic rhinitis, Erythroderma	OMIM:256500
Blau Syndrome	Nongranulomatous uveitis, Pericarditis, Eczema, Camptodactyly of finger, Erythema nodosum, Synovi...	OMIM:186580
Desbuquois Dysplasia 2	Joint laxity, Epiphyseal dysplasia, Short metacarpal, Monkey wrench femoral neck, Single transver...	OMIM:615777
Diffuse Cutaneous Systemic Sclerosis	Telangiectasia of the skin, Congestive heart failure, Flexion contracture, Osteolysis, Arthritis,...	ORPHA:220393
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short metacarpal, Single interphalangeal crease of fifth finger, Hypoplastic iliac wing, Delayed ...	OMIM:611717
Felty Syndrome	Episcleritis, Pericarditis, Sinusitis, Abnormal joint morphology, Recurrent pneumonia, Limitation...	ORPHA:47612
Immunodeficiency 85 And Autoimmunity	Oligoarthritis, Eczema, Erythroderma	OMIM:619510
Systemic Lupus Erythematosus, Susceptibility To, 6	Arthritis, Pericarditis, Malar rash	OMIM:609939
Hemochromatosis, Type 2A	Congestive heart failure, Dilated cardiomyopathy, Arthritis, Cardiomyopathy, Arrhythmia	OMIM:602390
Kid Syndrome	Angular cheilitis, Equinus calcaneus, Posterior blepharitis, Recurrent cutaneous fungal infection...	ORPHA:477
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra...	OMIM:612576
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Arthritis, Limitation of joint mobility	ORPHA:2582
Immunodeficiency 58	Recurrent cutaneous abscess formation, Eczema, Allergic rhinitis, Seborrheic dermatitis, Recurren...	OMIM:618131
Sézary Syndrome	Pruritus, Palmoplantar keratoderma, Erythroderma	ORPHA:3162
Spondyloepimetaphyseal Dysplasia, X-Linked	Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Joint laxity, Ra...	OMIM:300106
Pressure-Induced Localized Lipoatrophy	Inflammatory abnormality of the skin	ORPHA:90160
Autosomal Agammaglobulinemia	Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepatitis, Arthri...	ORPHA:33110
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short phalanx of fing...	OMIM:250220
Brachydactyly-Nystagmus-Cerebellar Ataxia	Short metacarpal, Short metatarsal, Brachydactyly	OMIM:113400
Satoyoshi Syndrome	Short metacarpal, Short metatarsal, Osteolytic defects of the phalanges of the hand, Genu valgum,...	OMIM:600705
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii	Short metatarsal, Type E brachydactyly, Short 4th metacarpal	OMIM:113301
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, Arthritis, Conjunctivitis, Otitis media	OMIM:601457
Sydenham Chorea	Septic arthritis, Endocarditis	ORPHA:306731
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Glomerulonephritis, Eczema, Hepatitis, Arthritis, Erythroderma	OMIM:304790
Generalized Pustular Psoriasis	Pustule, Congestive heart failure, Cheilitis, Uveitis, Arthritis, Palmoplantar pustulosis, Erythr...	ORPHA:247353
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10	Scapular winging, Osteoarthritis, Bronchiectasis, Small thenar eminence, Joint hypermobility	OMIM:620080
Immunodeficiency 61	Recurrent otitis media, Arthritis, Recurrent sinusitis	OMIM:300310
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Avascular necrosis of the capital femoral epiphysis, Arthritis, Cervical subluxation	OMIM:184100
Proteasome-Associated Autoinflammatory Syndrome 3	Myositis, Sinusitis, Skin rash, Flexion contracture, Arthritis, Finger swelling, Panniculitis, Co...	OMIM:617591
Elastoderma	Erysipelas, Eczema	ORPHA:228240
Localized Scleroderma	Fasciitis, Raynaud phenomenon, Vasculitis, Flexion contracture, Sclerosis of finger phalanx, Uvei...	ORPHA:90289
Moderate Hemophilia A	Gastrointestinal hemorrhage, Hip contracture, Epidural hemorrhage, Arthropathy, Intraventricular ...	ORPHA:169805
Lamellar Ichthyosis	Chronic otitis media, Pruritus, Erythroderma	ORPHA:313
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Joint dislocation, Arthropathy, Limited hip extension, Genu recurvatum, Flexion contracture, Tibi...	OMIM:143095
Ichthyosis, Congenital, Autosomal Recessive 6	Palmoplantar keratoderma, Erythroderma	OMIM:612281
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short...	OMIM:607778
Familial Cold Autoinflammatory Syndrome 1	Arthritis, Conjunctivitis, Skin rash, Uveitis	OMIM:120100
Acromesomelic Dysplasia 4	Broad toe, Short metacarpal, Radial bowing, Rhizomelia, Sandal gap, Prominent deltoid tuberositie...	OMIM:619636
Overlap Myositis	Proximal muscle weakness in upper limbs, Subluxation of the small joints of the hand, Raynaud phe...	ORPHA:206572
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femora...	ORPHA:457395
Copper Deficiency, Familial Benign	Seborrheic dermatitis	OMIM:121270
Periodic Fever, Familial, Autosomal Dominant	Gastrointestinal hemorrhage, Myositis, Skin rash, Maculopapular exanthema, Oligoarthritis, Polyar...	OMIM:142680
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos...	ORPHA:289176
Spondyloenchondrodysplasia	Metaphyseal dysplasia, Skin rash, Pneumonia, Bowing of the legs, Raynaud phenomenon, Hypoplastic ...	ORPHA:1855
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Wormian bones, Shortening of all metacarpals, Shortening of all phalanges of fingers, Bilateral t...	OMIM:601356
Hand-Foot-Genital Syndrome	Shortening of all middle phalanges of the fingers, Proximal placement of thumb, Short hallux, Hal...	OMIM:140000
Stickler Syndrome, Type I	Arthropathy, Arachnodactyly, Joint stiffness, Osteoarthritis, Irregular femoral epiphysis, Arthri...	OMIM:108300
Brachydactyly, Type E2	Short metacarpal, Short metatarsal, Brachydactyly	OMIM:613382
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Arthritis, Crescentic glomerulonephritis, Pulmonary hemorrhage	OMIM:616414
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, P...	OMIM:615508
Takayasu Arteritis	Increased inflammatory response, Myocardial infarction, Vasculitis, Arthritis, Hypertension, Cere...	ORPHA:3287
Stüve-Wiedemann Syndrome	Osteopenia, Flexion contracture of finger, Bowing of the long bones, Recurrent fractures, Camptod...	ORPHA:3206
Dyggve-Melchior-Clausen Disease	Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bowing, Narrow...	OMIM:223800
Arthrogryposis, Distal, Type 3	Decreased hip abduction, Congenital hip dislocation, Camptodactyly of finger, Overlapping toe, Do...	OMIM:114300
Graft Versus Host Disease	Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ta...	ORPHA:39812
Frontometaphyseal Dysplasia	Single transverse palmar crease, Limited elbow movement, Metaphyseal widening, Short metatarsal, ...	ORPHA:1826
Systemic Lupus Erythematosus	Pericarditis, Lupus nephritis, Arthritis, Malar rash, Nephritis	OMIM:152700
Dowling-Degos Disease	Abnormality of the hand, Pruritus, Palmar pits, Arthritis, Acne inversa	ORPHA:79145
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, Allergic rhinitis, Eczema, Elbow contracture, Ulnar deviation of the wrist, 2-3 toe s...	OMIM:618162
Proteus Syndrome	Calvarial hyperostosis, Facial hyperostosis, Mandibular hyperostosis, Thin bony cortex	OMIM:176920
Osteogenesis Imperfecta, Type X	Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Micromelia, Generali...	OMIM:613848
Diarrhea 5, With Tufting Enteropathy, Congenital	Arthritis	OMIM:613217
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Short metatarsal, Radioulnar s...	OMIM:605282
Osteoarthritis Susceptibility 1	Hip osteoarthritis	OMIM:165720
Moebius Syndrome	Syndactyly, Brachydactyly, Clinodactyly, Split hand, Abnormal pelvic girdle bone morphology, Tali...	OMIM:157900
Immunodeficiency 12	Skin rash, Osteoporosis, Cheilitis, Bronchiectasis, Clubbing, Recurrent aphthous stomatitis	OMIM:615468
Familial Cold Urticaria	Pruritus, Arthritis, Conjunctivitis	ORPHA:47045
Yao Syndrome	Inflammatory abnormality of the skin, Pericarditis, Skin rash, Arthritis, Keratoconjunctivitis sicca	OMIM:617321
Chondrodysplasia-Difference Of Sex Development Syndrome	Short metacarpal, Broad long bones, Micromelia, Increased skull ossification, Abnormal shoulder m...	ORPHA:1422
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Limitation of joint mobility, Coxa vara, Hypoplasia of the capital femoral epiphysis, Irregular e...	OMIM:313400
Systemic Sclerosis	Abnormal phalangeal joint morphology of the hand, Pericarditis, Osteomyelitis, Recurrent skin inf...	ORPHA:90291
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Pneumonia, Erythema nodosum, Recurrent pneumonia, Bronchiectasis, Uveitis, Th...	OMIM:614700
Atelosteogenesis Type Ii	Micromelia, Short phalanx of finger, Broad metacarpals, Ulnar deviation of the hand or of fingers...	ORPHA:56304
Chromosome 2Q37 Deletion Syndrome	Short metacarpal, Short fourth metatarsal, Eczema, Short toe, Arrhythmia, Short phalanx of finger...	OMIM:600430
Immunodeficiency 25	Recurrent pneumonia, Erythroderma	OMIM:610163
Jackson-Weiss Syndrome	Broad hallux phalanx, Toe syndactyly, Short metatarsal, 2-3 toe syndactyly, Symphalangism affecti...	ORPHA:1540
Rat-Bite Fever	Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca...	ORPHA:31205
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Myositis, Pericarditis, Skin rash, Gastritis, Joint stiffness, Myoca...	ORPHA:809
Chikungunya	Maculopapular exanthema, Skin rash, Epistaxis, Joint stiffness, Pruritus, Erythema nodosum, Rayna...	ORPHA:324625
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Pruritus, Short toe, Cone-shaped epiphyses of the phalanges of the hand, Periodontiti...	OMIM:619269
Mycosis Fungoides	Pruritus, Psoriasiform dermatitis, Eczema	OMIM:254400
Cinca Syndrome	Patellar overgrowth, Arthritis, Skin rash, Uveitis	OMIM:607115
Netherton Syndrome	Skin rash, Eczema, Erythroderma	ORPHA:634
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Palmoplantar keratoderma, Conjunctivitis, Erythroderma	OMIM:242150
Interstitial Granulomatous Dermatitis With Arthritis	Pruritus, Inflammatory abnormality of the skin, Rheumatoid arthritis	ORPHA:79099
Xylt1-Cdg	Joint laxity, Joint dislocation, Acne, Coxa valga, Flared metaphysis, Short long bone, Short femo...	ORPHA:370930
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Osteopenia, Short distal phalanx of the thumb, Psoriasiform dermatitis, Clinodactyly of the 2nd f...	ORPHA:221139
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Recurrent pneumonia, ...	ORPHA:47
Stuve-Wiedemann Syndrome 1	Enlarged joints, Single transverse palmar crease, Knee flexion contracture, Femoral bowing, Tibia...	OMIM:601559
Microscopic Polyangiitis	Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Gastrointestin...	ORPHA:727
Spinocerebellar Ataxia 34	Erythroderma	OMIM:133190
Ameloonychohypohidrotic Syndrome	Seborrheic dermatitis	OMIM:104570
Oculodentodigital Dysplasia	Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Short hallux, Aplasia/Hypoplasia of t...	ORPHA:2710
Autosomal Dominant Spastic Paraplegia Type 36	Arthritis	ORPHA:320365
Frank-Ter Haar Syndrome	Osteopenia, Short palm, Bowing of the long bones, Acne, Delayed cranial suture closure, Metatarsu...	OMIM:249420
Monosomy 22	Finger syndactyly, Single transverse palmar crease, Seborrheic dermatitis, Clubbing, Contractures...	ORPHA:96123
Wilson Disease	Abnormality of the hand, Pruritus, Hepatitis, Arthritis, Joint swelling, Acute hepatitis, Patholo...	ORPHA:905
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Patellar hypoplasia, Knee...	OMIM:609945
Bacterial Toxic-Shock Syndrome	Shock, Fasciitis, Sinusitis, Myositis, Pneumonia, Osteomyelitis, Skin rash, Glomerulonephritis, R...	ORPHA:36234
Autosomal Recessive Primary Microcephaly	Abnormal cortical bone morphology	ORPHA:2512
Farber Disease	Abnormality of the knee, Abnormality of the hand, Short toe, Flexion contracture, Osteoporosis, A...	ORPHA:333
Acrodysostosis	Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Abnormal morphology ...	ORPHA:950
Severe Hemophilia A	Gastrointestinal hemorrhage, Epidural hemorrhage, Limb joint contracture, Epistaxis, Limitation o...	ORPHA:169802
Coccidioidomycosis	Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Pruritus, Erythema nodosum, Peritonitis, Vascu...	ORPHA:228123
Fibrous Dysplasia Of Bone	Abnormal morphology of the radius, Thin bony cortex, Cortical irregularity, Bowing of the long bo...	ORPHA:249
Familial Osteodysplasia, Anderson Type	Recurrent fractures, Aplastic clavicle, Elbow dislocation, Bifid femur, Increased susceptibility ...	ORPHA:2769
Inflammatory Bowel Disease 25, Autosomal Recessive	Perianal abscess, Pancolitis, Folliculitis, Enterocolitis	OMIM:612567
Lenz-Majewski Hyperostotic Dwarfism	Finger syndactyly, Increased bone mineral density, Delayed cranial suture closure, Aplastic clavi...	ORPHA:2658
Trichothiodystrophy	Osteopenia, Congenital exfoliative erythroderma, Increased bone mineral density, Multiple joint c...	ORPHA:33364
Ehlers-Danlos Syndrome, Classic Type, 1	Joint dislocation, Hyperextensibility of the finger joints, Hyperextensibility of the knee, Osteo...	OMIM:130000
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Psoriasiform dermatitis, Eczema, Thyroiditis, Erythroderma, Chronic oral candidiasis	OMIM:606367
Pde4D Haploinsufficiency Syndrome	Joint laxity, Short metacarpal, Broad hallux, Short toe, Short metatarsal, Upper limb undergrowth...	ORPHA:439822
Pseudohypoparathyroidism, Type Ia	Short metacarpal, Short toe, Osteoporosis, Short metatarsal, Subcutaneous ossification, Short fin...	OMIM:103580
Hemophilia A	Osteoarthritis, Joint hemorrhage, Muscle hemorrhage	OMIM:306700
Activated Pi3K-Delta Syndrome	Pneumonia, Bronchiectasis, Arthritis, Recurrent otitis media, Chronic sinusitis	ORPHA:397596
W Syndrome	Hypoplasia of the ulna, Radial bowing, Acne, Metatarsus adductus, Elbow dislocation, Camptodactyl...	ORPHA:2804
Familial Hemophagocytic Lymphohistiocytosis	Skin rash, Maculopapular exanthema, Colitis, Erythroderma, Infectious encephalitis	ORPHA:540
Ghosal Hematodiaphyseal Dysplasia	Myelofibrosis, Increased bone mineral density, Diaphyseal dysplasia, Hyperostosis cranialis interna	OMIM:231095
Paget Disease Of Bone 6	Osteoarthritis, Recurrent fractures	OMIM:616833
Adult-Onset Still Disease	Pericarditis, Skin rash, Pruritus, Myocarditis, Hepatitis, Arthritis, Joint swelling	ORPHA:829
Brachydactyly, Type E1	Short metacarpal, Short metatarsal, Short clavicles, Type E brachydactyly, Brachydactyly	OMIM:113300
Hypocomplementemic Urticarial Vasculitis	Episcleritis, Joint dislocation, Skin rash, Pruritus, Uveitis, Arthritis, Conjunctivitis, Small v...	ORPHA:36412
Vexas Syndrome	Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Chondritis of pinna,...	OMIM:301054
Lyme Disease	Atrioventricular block, Uveitis, Arthritis, Joint swelling, Arrhythmia, Infectious encephalitis	ORPHA:91546
Panniculitis-Induced Localized Lipodystrophy	Inflammatory abnormality of the skin	ORPHA:90159
Hemochromatosis, Type 3	Arthritis, Cardiomyopathy	OMIM:604250
Diffuse Cutaneous Mastocytosis	Pruritus, Gastrointestinal hemorrhage, Hypotension, Erythroderma	ORPHA:79456
Hemophilia B	Gastrointestinal hemorrhage, Osteoarthritis, Joint hemorrhage	OMIM:306900
Greenberg Dysplasia	Micromelia, Multiple prenatal fractures, Patchy variation in bone mineral density, Tetraphocomeli...	OMIM:215140
Hemochromatosis, Type 4	Cardiomyopathy, Osteoarthritis, Arrhythmia	OMIM:606069
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Psoriasiform dermatitis, Eczema, Bronchiectasis, Arthritis, Crohn's disease	OMIM:616100
Dent Disease	Enlarged epiphyses, Bulging epiphyses, Enlargement of the ankles, Osteomalacia, Recurrent fractur...	ORPHA:1652
Psoriasis 14, Pustular	Psoriasiform dermatitis, Cholangitis, Pustule, Oligoarthritis, Polyarticular arthritis	OMIM:614204
Papillon-Lefèvre Syndrome	Recurrent cutaneous abscess formation, Severe periodontitis, Recurrent skin infections, Arachnoda...	ORPHA:678
Martsolf Syndrome 1	Joint laxity, Short metacarpal, Cardiac arrest, Metatarsus adductus, Congestive heart failure, Sh...	OMIM:212720
Anti-Glomerular Basement Membrane Disease	Arthritis, Vasculitis	ORPHA:375
Reynolds Syndrome	Skin rash, Telangiectasia of the skin, Pruritus, Arthritis, Keratoconjunctivitis sicca, Infectiou...	ORPHA:779
Spondylosis, Cervical	Osteoarthritis	OMIM:184300
Pfapa Syndrome	Arthritis, Infectious encephalitis	ORPHA:42642
Andersen Cardiodysrhythmic Periodic Paralysis	Prolonged QT interval, Joint laxity, Short palm, Short metacarpal, Toe syndactyly, Scapular wingi...	OMIM:170390
Osteoglophonic Dysplasia	Osteopenia, Short metatarsal, Short palm, Short phalanx of finger, Pseudoarthrosis, Broad metacar...	OMIM:166250
Polymyositis	Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar...	ORPHA:732
Hemihyperplasia-Multiple Lipomatosis Syndrome	Telangiectasia of the skin, Macrodactyly, Seborrheic dermatitis, 2-4 toe syndactyly, Foot polydac...	ORPHA:276280
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Aplasia of the epiglottis, Clinodactyly of the 5th finger, Short tib...	OMIM:268305
Alkaptonuria	Joint dislocation, Myocardial infarction, Joint stiffness, Osteoarthritis, Reduced bone mineral d...	ORPHA:56
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin...	ORPHA:85167
Eosinophilic Granulomatosis With Polyangiitis	Increased inflammatory response, Myositis, Sinusitis, Skin rash, Recurrent intrapulmonary hemorrh...	ORPHA:183
Dihydropyrimidinase Deficiency	Short phalanx of finger, Talipes equinovarus	OMIM:222748
Congenital Disorder Of Glycosylation, Type If	Flexion contracture, Erythroderma	OMIM:609180
Sweet Syndrome	Predominantly dermal neutrophilic infiltrate, Myositis, Acne, Abnormality of the hand, Pustule, D...	ORPHA:3243
Scedosporiosis	Unusual skin infection, Pericarditis, Arthralgia/arthritis, Sinusitis, Pneumonia, Osteomyelitis, ...	ORPHA:449280
Weill-Marchesani Syndrome 2	Short metacarpal, Joint stiffness, Broad metatarsal, Congestive heart failure, Elbow flexion cont...	OMIM:608328
Oligoarticular Juvenile Idiopathic Arthritis	Knee osteoarthritis, Oligoarthritis, Uveitis, Abnormality of the ankle, Rheumatoid arthritis, Joi...	ORPHA:85410
Weill-Marchesani Syndrome 1	Joint stiffness, Broad metatarsal, Broad palm, Mitral regurgitation, Pulmonic stenosis, Broad pha...	OMIM:277600
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Septic arthritis, Recurrent pneumonia, Eczema	OMIM:617780
Neuropathy, Hereditary Sensory And Autonomic, Type V	Arthropathy, Osteomyelitis, Recurrent fractures, Osteoarthritis, Painless fractures due to injury...	OMIM:608654
Spondyloenchondrodysplasia With Immune Dysregulation	Metaphyseal dysplasia, Pneumonia, Short iliac bones, Raynaud phenomenon, Metaphyseal sclerosis, M...	OMIM:607944
Melioidosis	Shock, Foot osteomyelitis, Unusual skin infection, Pneumonia, Osteoarthritis, Hepatitis, Acute in...	ORPHA:31202
Complement Factor I Deficiency	Recurrent skin infections, Glomerulonephritis, Vasculitis, Pyelonephritis, Recurrent sinusitis, R...	OMIM:610984
Idiopathic Localized Lipodystrophy	Pruritus, Inflammatory abnormality of the skin	ORPHA:90158
Immunodeficiency 68	Lymphadenitis, Recurrent skin infections, Septic arthritis	OMIM:612260
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Early ossification of capital femoral epiphyses, Cone-shaped epiphyses of...	OMIM:208500
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Eczema, Lymphadenitis, Congestive heart failure, Dilated cardiomyopathy, Hematochezia, Cardiomyop...	OMIM:615895
Trichorhinophalangeal Syndrome Type 1	Short metacarpal, Camptodactyly of finger, Avascular necrosis of the capital femoral epiphysis, S...	ORPHA:77258
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Osteomyelitis, Skin rash, Pustule, Periostitis, Osteolysis, Fused cervical vertebrae,...	OMIM:612852
Necrobiosis Lipoidica	Inflammatory abnormality of the skin, Abnormality of the hand, Abnormal forearm morphology	ORPHA:542592
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Fasciitis, Pericarditis, Myositis, Skin rash, Orchitis, Abnormal sacroiliac joint morphology, Per...	ORPHA:32960
Eosinophilic Fasciitis	Arthritis, Fasciitis, Myositis	ORPHA:3165
Biotinidase Deficiency	Skin rash, Conjunctivitis, Recurrent skin infections, Seborrheic dermatitis	OMIM:253260
Wiskott-Aldrich Syndrome	Sinusitis, Recurrent intrapulmonary hemorrhage, Eczema, Sudden cardiac death, Epistaxis, Keratiti...	ORPHA:906
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Viral hepatitis, Psoriasiform dermatitis, Skin rash, Cholangitis, Pneumonia, A...	ORPHA:183675
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Viral hepatitis, Glomerulonephritis, Spider hemangioma, Fulminant he...	ORPHA:2137
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Coxa valga, Short metat...	OMIM:618150
Autoimmune Lymphoproliferative Syndrome, Type Iii	Recurrent otitis media, Arthritis, Recurrent sinusitis, Membranous nephropathy	OMIM:615559
Hyperzincemia With Functional Zinc Depletion	Vasculitis, Skin rash, Osteoporosis	OMIM:601979
Rheumatic Fever	Pericarditis, Sinusitis, Epistaxis, Myocarditis, Endocarditis, Arthritis, Arrhythmia	ORPHA:3099
Letterer-Siwe Disease	Stomatitis, Seborrheic dermatitis	OMIM:246400
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Bundle branch block, Myositis, Pericarditis, Skin rash, Angina pecto...	ORPHA:93672
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Hyperextensibility of the finger joints, Long palm, Recurrent fractures, Single transverse palmar...	OMIM:309583
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Osteopenia, Short metacarpal, Brachydactyly, Rhizomelia, Short metatarsal, Small hand, Cone-shape...	OMIM:614813
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Peritonitis, Vasculitis, Limitation of joint mobility, Arthritis, Re...	ORPHA:343
Adiposis Dolorosa	Telangiectasia of the skin, Arthritis, Recurrent skin infections	ORPHA:36397
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Superficial dermal perivascular inflammatory infiltrate, Arachnodactyly, Eczema, Overlapping toe,...	ORPHA:83617
Czech Dysplasia	Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Flexion contrac...	OMIM:609162
Acrodysostosis 1 With Or Without Hormone Resistance	Short metacarpal, Brachydactyly, Neonatal epiphyseal stippling, Short metatarsal, Broad palm, Con...	OMIM:101800
Pseudohypoparathyroidism, Type Ic	Short metacarpal, Osteoporosis, Short metatarsal, Brachydactyly	OMIM:612462
Majeed Syndrome	Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Flexion contracture, Joint swelling	OMIM:609628
Insulin Autoimmune Syndrome	Arthralgia/arthritis	ORPHA:411593
Gaucher Disease Type 1	Osteopenia, Increased bone mineral density, Osteoarthritis, Osteolysis, Pulmonary arterial hypert...	ORPHA:77259
Lesch-Nyhan Syndrome	Gout	ORPHA:510
Lymphoid Interstitial Pneumonia	Skin rash, Eczema, Raynaud phenomenon, Clubbing, Bronchiectasis, Keratoconjunctivitis sicca, Pulm...	ORPHA:79128
Atelosteogenesis, Type I	Short humerus, Short metacarpal, Radial bowing, Club-shaped proximal femur, Rhizomelia, Short fem...	OMIM:108720
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Angina pectoris, Transient ischemic attack, Tel...	ORPHA:324
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Erythroderma	ORPHA:169154
Zinc Deficiency, Transient Neonatal	Eczema	OMIM:608118
Osteogenesis Imperfecta	Osteopenia, Micromelia, Osteoarthritis, Flexion contracture, Abnormal tibia morphology, Abnormal ...	ORPHA:666
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Knee flexion contracture, Abnormal calcification of the carpal bo...	OMIM:271665
Catastrophic Antiphospholipid Syndrome	Angina pectoris, Transient ischemic attack, Myocardial infarction, Pulmonary embolism, Arterial o...	ORPHA:464343
Pediatric Systemic Lupus Erythematosus	Myositis, Skin rash, Discoid lupus rash, Raynaud phenomenon, Arthritis, Malar rash, Nephritis	ORPHA:93552
Mandibuloacral Dysplasia With Type B Lipodystrophy	Flexion contracture, Progressive clavicular acroosteolysis, Osteolytic defects of the distal phal...	OMIM:608612
Hunter-Macdonald Syndrome	Aortic regurgitation, Epiphyseal dysplasia, Metatarsus adductus, Premature osteoarthritis, 2-3 to...	OMIM:611962
Behcet Syndrome	Erythema nodosum, Iridocyclitis, Raynaud phenomenon, Epididymitis, Arthritis, Iritis	OMIM:109650
Trichothiodystrophy 1, Photosensitive	Keratoconjunctivitis sicca, Flexion contracture, Telangiectasia, Erythroderma	OMIM:601675
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Viral hepatitis, Vasculitis, Arthritis, Keratoconjunctivitis sicca	ORPHA:91138
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Limb joint contracture, Tapered finger, Seborrheic dermatitis, Flexion contracture, Aspiration pn...	OMIM:301072
Combined Oxidative Phosphorylation Deficiency 53	Arthritis, Osteomyelitis, Septic arthritis	OMIM:619423
Omenn Syndrome	Pneumonia, Erythroderma	OMIM:603554
Mesomelia-Synostoses Syndrome	Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Short metatarsal, Tibial bow...	OMIM:600383
Aortic Aneurysm, Familial Thoracic 12	Aortic regurgitation, Arthritis	OMIM:619825
Wiedemann-Steiner Syndrome	Joint laxity, Tapered finger, Contracture of the distal interphalangeal joint of the fingers, Sho...	OMIM:605130
Reactive Arthritis	Aortic regurgitation, Pericarditis, Osteomyelitis, Joint stiffness, Pustule, Enthesitis, Arthriti...	ORPHA:29207
Gm1-Gangliosidosis, Type Ii	Limb undergrowth, Coxa valga, Thin bony cortex, Joint stiffness	OMIM:230600
Chromosome 15Q11.2 Deletion Syndrome	Swan neck-like deformities of the fingers, Arachnodactyly, Elbow contracture, Single transverse p...	OMIM:615656
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Pyoderma, Conjunctivitis,...	OMIM:307200
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Osteopenia, Joint laxity, Delayed closure of the anterior fontanelle, Short toe, Recurrent mandib...	OMIM:225410
Systemic-Onset Juvenile Idiopathic Arthritis	Anterior uveitis, Pericarditis, Skin rash, Joint swelling, Juvenile rheumatoid arthritis	ORPHA:85414
Loeys-Dietz Syndrome 6	Hip osteoarthritis, Knee osteoarthritis, Arachnodactyly, Intervertebral disc degeneration	OMIM:619656
Whipple Disease	Gastrointestinal hemorrhage, Myositis, Pericarditis, Myocardial infarction, Myocarditis, Uveitis,...	ORPHA:3452
Rothmund-Thomson Syndrome Type 2	Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Joint dislocation, Aplasia/hyp...	ORPHA:221016
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Cerebral hemorrhage, Abnormal hand morphology, Dilated cardiomyopathy, Small hand, Hypertension, ...	OMIM:300845
Gamma-Heavy Chain Disease	Skin rash, Osteolysis, Rheumatoid arthritis	ORPHA:100026
Faciocardiomelic Syndrome	Osteopenia, Slender long bone, Polydactyly, Hypoplastic pelvis, Thin bony cortex	OMIM:612731
Spondyloocular Syndrome	Osteopenia, Long toe, Arachnodactyly, Femur fracture, Overlapping toe, Long fingers, Thin bony co...	OMIM:605822
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Nephritis, Gout	OMIM:162000
Pseudohypoparathyroidism Type 1C	Prolonged QT interval, Increased bone mineral density, Short metacarpal, Short fifth metatarsal, ...	ORPHA:79444
Sarcoidosis, Susceptibility To, 1	Iridocyclitis, Bone cyst, Clubbing, Bronchiectasis, Uveitis, Arthritis, Inflammation of the large...	OMIM:181000
Transketolase Deficiency	Conjunctivitis, Uveitis, Seborrheic dermatitis	ORPHA:488618
Loeys-Dietz Syndrome 5	Scapular winging, Arachnodactyly, Eosinophilic infiltration of the esophagus, Osteoarthritis, Inc...	OMIM:615582
Codas Syndrome	Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyseal dysplasia, Proximal plac...	OMIM:600373
Fusariosis	Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Osteomyelitis, Keratitis, Per...	ORPHA:228119
Aneurysm-Osteoarthritis Syndrome	Aortic regurgitation, Joint laxity, Osteoarthritis of the small joints of the hand, Atrial fibril...	ORPHA:284984
Subcorneal Pustular Dermatosis	Pruritus, Pustule, Rheumatoid arthritis	ORPHA:48377
Rothmund-Thomson Syndrome Type 1	Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Metaphyseal sclerosis, Patella...	ORPHA:221008
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Short metacarpal, Craniosynostosis, Limited elbow movement, Preaxial hand polydactyly, Enlarged m...	ORPHA:508533
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Acne, Arachnodactyly, Seborrheic dermatitis, Multiple suture cranios...	ORPHA:567
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Hypertension, Gout	OMIM:618061
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Wolff-Parkinson-White syndrome, Clinodactyly of the 5th finger, Eczema, Seborrheic dermatitis	ORPHA:369950
Congenital Tricuspid Stenosis	Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Rheumatoid a...	ORPHA:95459
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Skin rash, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, Juvenile rheuma...	ORPHA:275
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Broad femoral neck, Broad ischia, Diaphyseal dysplasia, Sclerosis of skull...	OMIM:619727
Familial Mediterranean Fever	Pericarditis, Skin rash, Myocardial infarction, Orchitis, Osteoarthritis, Peritonitis, Vasculitis...	ORPHA:342
Blau Syndrome	Pericarditis, Skin rash, Camptodactyly of finger, Keratitis, Retrobulbar optic neuritis, Erythema...	ORPHA:90340
Immunodeficiency 82 With Systemic Inflammation	Osteomyelitis, Skin rash, Pneumonia, Recurrent skin infections, Gastritis, Osteomalacia, Bronchie...	OMIM:619381
Pseudohypoparathyroidism Type 1A	Prolonged QT interval, Increased bone mineral density, Short metacarpal, Short fifth metatarsal, ...	ORPHA:79443
Behçet Disease	Aortic regurgitation, Increased inflammatory response, Myositis, Pericarditis, Acne, Gastrointest...	ORPHA:117
Peroxisome Biogenesis Disorder 12A (Zellweger)	Abnormal cortical bone morphology, Delayed closure of the anterior fontanelle	OMIM:614886
Alkaptonuria	Arthropathy, Vertebral fusion, Limited shoulder movement, Arthritis, Limited hip movement, Limita...	OMIM:203500
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Gout	OMIM:617056
Simple Cryoglobulinemia	Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephri...	ORPHA:91139
Campomelic Dysplasia	Anterior tibial bowing, Delayed epiphyseal ossification, Patellar hypoplasia, Femoral bowing, Tib...	OMIM:114290
Pyoderma Gangrenosum	Pustule, Myositis, Rheumatoid arthritis, Inflammation of the large intestine	ORPHA:48104
Stickler Syndrome	Joint dislocation, Arachnodactyly, Protrusio acetabuli, Osteoarthritis, Hip dislocation, Uveitis,...	ORPHA:828
Autosomal Dominant Dopa-Responsive Dystonia	Paresis of extensor muscles of the big toe, Progressive flexion contractures, Hypertension, Talip...	ORPHA:98808
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Skin rash, Eczema, Portal hypertension, Erythema nodosum, Raynaud phenomenon, Dilated cardiomyopa...	OMIM:615688
Opsismodysplasia	Short metacarpal, Rhizomelia, Squared iliac bones, Hypoplastic pubic bone, Flat acetabular roof, ...	OMIM:258480
Giant Cell Arteritis	Pericarditis, Epistaxis, Sudden cardiac death, Joint stiffness, Vasculitis, Arthritis, Cerebral i...	ORPHA:397
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Arthritis	ORPHA:397744
Hyper-Igd Syndrome	Skin rash, Lymphadenitis, Arthritis, Chronic oral candidiasis, Molluscum contagiosum, Serositis	OMIM:260920
Larsen Syndrome	Joint laxity, Vertebral fusion, Short metacarpal, Spatulate thumbs, Elbow dislocation, Accessory ...	OMIM:150250
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Osteopenia, Prominent metopic ridge, Rhizomelia, Cholangitis, Craniosynostosis, Phalangeal cone-s...	OMIM:266920
Immunoglobulin A Vasculitis	Episcleritis, Gastrointestinal hemorrhage, Skin rash, Orchitis, Pustule, Vasculitis, Arthritis, I...	ORPHA:761
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hip contracture, Seborrheic dermatitis, Flexion contracture, Elbow flexion contracture, Broad pal...	OMIM:300868
Brucellosis	Anterior uveitis, Pericarditis, Osteomyelitis, Transient ischemic attack, Pneumonia, Glomerulonep...	ORPHA:1304
Plague	Chapped lip, Tachycardia, Skin rash, Erythema nodosum, Lymphadenitis, Hematemesis, Abnormality of...	ORPHA:707
Glycogen Storage Disease Ia	Hypertension, Osteoporosis, Pancreatitis, Gout	OMIM:232200
Relapsing Polychondritis	Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Limitation of joint mobi...	ORPHA:728
Hutchinson-Gilford Progeria Syndrome	Myocardial infarction, Osteoarthritis, Reduced bone mineral density, Intracranial hemorrhage, Lim...	ORPHA:740
Acromegaly	Acne, Macrodactyly, Tapered finger, Osteoarthritis, Hypertension, Mitral regurgitation, Large han...	ORPHA:963
Marshall Syndrome	Osteoarthritis, Genu valgum	ORPHA:560
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Short metatarsal, Femoral bowing, Tibial bowing, S...	OMIM:304120
Postinfectious Vasculitis	Cerebral vasculitis, Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative...	ORPHA:48435
Nivelon-Nivelon-Mabille Syndrome	Short metacarpal, Short phalanx of finger, Micromelia, Brachydactyly	OMIM:600092
Aspartylglucosaminuria	Abnormal morphology of ulna, Joint stiffness, Arthritis, Chronic otitis media, Abnormal cortical ...	ORPHA:93
Selective Igm Deficiency	Fasciitis, Non-infectious meningitis, Allergic rhinitis, Keratitis, Lymphadenitis, Raynaud phenom...	ORPHA:331235
Glycogen Storage Disease Ib	Osteoporosis, Gout, Hypertension, Inflammation of the large intestine, Pancreatitis	OMIM:232220
Centrifugal Lipodystrophy	Lymphadenitis, Inflammatory abnormality of the skin	ORPHA:90156
Nicolaides-Baraitser Syndrome	Long toe, Hallux valgus, Short metacarpal, Enlarged joints, Sandal gap, Eczema, Single transverse...	OMIM:601358
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Seborrheic dermatitis	OMIM:210210
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Arthritis, Gout	ORPHA:411543
Classical Ehlers-Danlos Syndrome	Osteopenia, Orthostatic hypotension, Phalangeal dislocation, Osteoarthritis, Generalized joint la...	ORPHA:287
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Skin rash, Pneumonia, Chilblains, Hematemesis, Vasculitis, Hepatitis, Atopic ...	OMIM:615846
Lacrimoauriculodentodigital Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Absent thumb, Abnorm...	ORPHA:2363
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Skin rash, Perianal abscess, Arthritis, Inflammation of the large intestine, C...	OMIM:301074
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Metaphyseal chondromatosis of tibia, Metaphyseal dysplasia, Enlargement of the ankles, Multiple j...	ORPHA:99646
Listeriosis	Unusual skin infection, Pericarditis, Osteomyelitis, Stiff neck, Pneumonia, Pustule, Myocarditis,...	ORPHA:533
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Recurrent skin infections, Eczema, Keratitis, Postaxial hand polydactyly, Hip dislocation, Hypert...	OMIM:308205
Kawasaki Disease	Pericarditis, Skin rash, Myocarditis, Congestive heart failure, Vasculitis, Hepatitis, Cheilitis,...	ORPHA:2331
Hereditary Xanthinuria	Arthropathy, Rheumatoid arthritis, Gout	ORPHA:3467
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Epistaxis, Osteoporosis, Enterocolitis, Ulcerative colitis, Gout, Thyroiditis, Hypert...	ORPHA:79259
Gaucher Disease	Osteopenia, Joint dislocation, Increased bone mineral density, Osteomyelitis, Recurrent fractures...	ORPHA:355
Shigellosis	Pneumonia, Myocarditis, Peritonitis, Uveitis, Ulcerative colitis, Arthritis, Hypovolemic shock, C...	ORPHA:810
Oculocerebrorenal Syndrome Of Lowe	Osteomalacia, Recurrent fractures, Joint stiffness, Hip dislocation, Cheilitis, Genu valgum, Arth...	ORPHA:534
Agammaglobulinemia, X-Linked	Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, Bronchiectasis, Pyoderma, ...	OMIM:300755
Glycogen Storage Disease Vii	Gout	OMIM:232800
Familial Mediterranean Fever	Pericarditis, Orchitis, Peritonitis, Arthritis, Crohn's disease, Erysipelas	OMIM:249100
Riddle Syndrome	Conjunctival telangiectasia, Pneumonia, Intraventricular hemorrhage, Recurrent pneumonia, Telangi...	ORPHA:420741
Systemic Lupus Erythematosus	Lupus nephritis, Discoid lupus rash, Raynaud phenomenon, Cheilitis, Arthritis, Hypertension, Mala...	ORPHA:536
Rhombencephalosynapsis	Finger syndactyly, Short phalanx of finger, Polydactyly, Complete duplication of thumb phalanx	ORPHA:59315
Arteriosclerosis, Severe Juvenile	Hypertension, Hip dysplasia, Short phalanx of finger, Myocardial infarction	OMIM:208060
Mucopolysaccharidosis Type 2, Severe Form	Camptodactyly of finger, Flexion contracture, Limitation of joint mobility, Heart murmur, Arthrit...	ORPHA:217085
Somatomammotropinoma	Macrodactyly, Tapered finger, Osteoarthritis, Hypertension, Mitral regurgitation, Large hands, De...	ORPHA:314769
Congenital Tufting Enteropathy	Arthritis, Punctate keratitis	ORPHA:92050
Mucopolysaccharidosis Type 2, Attenuated Form	Camptodactyly of finger, Flexion contracture, Limitation of joint mobility, Heart murmur, Arthrit...	ORPHA:217093
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Arthritis	ORPHA:411536
Hypermobile Ehlers-Danlos Syndrome	Joint dislocation, Abnormality of the wrist, Elbow dislocation, Osteoarthritis, Limitation of joi...	ORPHA:285
Hereditary Spherocytosis	Restrictive cardiomyopathy, Maculopapular exanthema, Gout	ORPHA:822
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Psoriasiform dermatitis, Osteomyelitis, Eczema, Pneumonia, Recurrent skin infections, G...	ORPHA:37042
Secondary Non-Traumatic Avascular Necrosis	Limitation of joint mobility, Rheumatoid arthritis	ORPHA:399180
Bartsocas-Papas Syndrome 1	Syndactyly, Short metacarpal, Hypoplastic scapulae, Absent thumb, Absent radius, Short thumb, Uln...	OMIM:263650
Dermatomyositis	Pericarditis, Telangiectasia of the skin, Myocardial infarction, Pruritus, Myocarditis, Vasculiti...	ORPHA:221
Primary Sjögren Syndrome	Myositis, Chronic active hepatitis, Glomerulonephritis, Lymphocytic interstitial pneumonia, Eryth...	ORPHA:289390
Autoimmune Polyendocrinopathy Type 4	Osteopenia, Atrophic gastritis, Iridocyclitis, Hepatitis, Chronic mucocutaneous candidiasis, Tubu...	ORPHA:227990
Sjogren Syndrome	Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid arthritis	OMIM:270150
Felty Syndrome	Rheumatoid arthritis	OMIM:134750
Marfan Syndrome	Aortic regurgitation, Tricuspid regurgitation, Arachnodactyly, Protrusio acetabuli, Genu recurvat...	OMIM:154700
Marburg Hemorrhagic Fever	Shock, Pericarditis, Tachycardia, Skin rash, Maculopapular exanthema, Orchitis, Internal hemorrha...	ORPHA:99826
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pneumonia, Recurrent pneumonia, Chron...	OMIM:102700
Autoimmune Polyendocrinopathy Type 3	Osteopenia, Atrophic gastritis, Iridocyclitis, Hepatitis, Chronic mucocutaneous candidiasis, Tubu...	ORPHA:227982
Medullary cystic kidney disease 2	Tubulointerstitial nephritis, Gout	OMIM:603860
Melkersson-Rosenthal Syndrome	Inflammatory abnormality of the skin, Cheilitis	ORPHA:2483
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Inflammatory abnormality of the skin, Eczema, Congestive heart failure, Hepatitis, Br...	ORPHA:391487
Tetrasomy 9P	Joint dislocation, Myositis, Pericarditis, Hypoplastic scapulae, Raynaud phenomenon, Small hand, ...	ORPHA:3310
Idiopathic Camptocormia	Abnormal inflammatory response, Myositis, Osteoarthritis, Myelitis	ORPHA:1320
Loeys-Dietz Syndrome 3	Joint laxity, Atrial fibrillation, Arachnodactyly, Protrusio acetabuli, Eosinophilic infiltration...	OMIM:613795
Dysbetalipoproteinemia	Acute pancreatitis, Angina pectoris, Gout	ORPHA:412
Nance-Horan Syndrome	Short phalanx of finger, Broad finger	OMIM:302350
Achalasia, Familial Esophageal	Keratoconjunctivitis sicca, Rheumatoid arthritis	OMIM:200400
Wilson Disease	Osteomalacia, Osteoarthritis, Atypical or prolonged hepatitis, Osteoporosis, Chondrocalcinosis, J...	OMIM:277900
Robinow Syndrome, Autosomal Dominant 3	Syndactyly, Tricuspid regurgitation, Mesomelia, Camptodactyly, Clinodactyly, Short phalanx of fin...	OMIM:616894
Yunis-Varon Syndrome	Congenital hip dislocation, Single transverse palmar crease, Short metatarsal, Palmoplantar hyper...	OMIM:216340
Craniosynostosis And Dental Anomalies	Hallux valgus, Prominent metopic ridge, Broad hallux, Sagittal craniosynostosis, Clinodactyly, 2-...	OMIM:614188
Uremic Pruritus	Pruritus, Inflammatory abnormality of the skin, Recurrent skin infections	ORPHA:94059
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Hypotension, Tubulointerstitial nephritis, Hypertension, Gout	OMIM:174000
Mucopolysaccharidosis Type 2	Limitation of joint mobility, Abnormal epiphyseal ossification, Cardiomyopathy, Hypertension, Con...	ORPHA:580
Hereditary Sensory And Autonomic Neuropathy Type 4	Fasciitis, Osteomyelitis, Neuropathic arthropathy, Painless fractures due to injury, Syncope, Abn...	ORPHA:642
Marfan Syndrome	Osteopenia, Arthralgia/arthritis, Arachnodactyly, Protrusio acetabuli, Limited elbow movement, Co...	ORPHA:558
Gaisböck Syndrome	Angina pectoris, Myocardial infarction, Hypovolemia, Gout, Elevated diastolic blood pressure, Hyp...	ORPHA:90041
Autoimmune Lymphoproliferative Syndrome	Gastritis, Glomerulonephritis, Vasculitis, Hepatitis, Uveitis, Thyroiditis, Arthritis, Colitis, P...	ORPHA:3261
Aicardi-Goutières Syndrome	Myositis, Multiple joint contractures, Chilblains, Raynaud phenomenon, Arthritis, Panniculitis, H...	ORPHA:51
Myasthenia Gravis	Myositis, Raynaud phenomenon, Hepatitis, Rheumatoid arthritis, Hashimoto thyroiditis	ORPHA:589
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Gout	ORPHA:79233
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Long toe, Short humerus, Short femur, Recurrent skin infections, Camptodactyly of fin...	ORPHA:3455
Glycogen Storage Disease Ic	Spider hemangioma, Chronic pancreatitis, Gout, Hypertension, Inflammation of the large intestine,...	OMIM:232240
Focal Dermal Hypoplasia	Joint laxity, Short metacarpal, Congenital hip dislocation, Toe syndactyly, Postaxial hand polyda...	OMIM:305600
Igg4-Related Retroperitoneal Fibrosis	Deep dermal perivascular inflammatory infiltrate, Psoriasiform dermatitis, Large vessel vasculiti...	ORPHA:49041
Gitelman Syndrome	Prolonged QT interval, Raynaud phenomenon, Gout, Low-to-normal blood pressure, Ventricular fibril...	ORPHA:358
Noonan Syndrome 1	Clinodactyly, Synovitis, Pulmonic stenosis, Radial deviation of finger, Cubitus valgus, Hypertrop...	OMIM:163950
Insulin-Resistance Syndrome Type B	Skin rash, Osteoarthritis, Nephritis, Pneumonia	ORPHA:2298
Sitosterolemia 1	Arthritis	OMIM:210250
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant	Osteoarthritis, Subdural hemorrhage	OMIM:619714
Digeorge Syndrome	Acne, Seborrheic dermatitis, Recurrent pneumonia, Patellar dislocation, Recurrent sinusitis, Recu...	OMIM:188400
Thymoma	Rheumatoid arthritis, Myositis, Glomerulonephritis, Ulcerative colitis	ORPHA:99867
Infection-Related Hemolytic Uremic Syndrome	Hypertensive crisis, Pneumonia, Myocarditis, Hypertension, Septic arthritis, Pancreatitis, Acute ...	ORPHA:544482
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Portal hypertension, Rickets, Reduced bone mineral density, Thin bony c...	OMIM:613658
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Arthritis, Joint hyperflexibility	ORPHA:93111
Phosphoribosylpyrophosphate Synthetase Superactivity	Gout	OMIM:300661
Vascular Ehlers-Danlos Syndrome	Joint dislocation, Congenital hip dislocation, Telangiectasia of the skin, Transient ischemic att...	ORPHA:286
Genitopatellar Syndrome	Hip contracture, Congenital hip dislocation, Patellar aplasia, Knee flexion contracture, Inferior...	OMIM:606170
Chronic Graft Versus Host Disease	Fasciitis, Urinary bladder inflammation, Flexion contracture, Bronchiectasis, Arthritis, Keratoco...	ORPHA:99921
Renal Cysts And Diabetes Syndrome	Gout	OMIM:137920
Choreoacanthocytosis	Arthritis, Dilated cardiomyopathy	ORPHA:2388
Pallister-Killian Syndrome	Congenital hip dislocation, Rhizomelia, Single transverse palmar crease, Mesomelic/rhizomelic lim...	OMIM:601803

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 Fgr

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 Fgr.

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

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MGI Allele	Allele Type	Produced
Fgr^{em1(IMPC)Ccpcz}	Exon Deletion	Mice
Fgr^{tm39192(L1L2_gt1)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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