Gene Summary

Name:
proteoglycan 4 (megakaryocyte stimulating factor, articular superficial zone protein)
Synonyms:
SZP,  MSF,  lubricin,  DOL54

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

Phenotype System Allele Zyg Sex Life Stage P Value
hypoactivity Prg4em1(IMPC)Ccpcz HOM   Early adult 2.14×10-07
decreased grip strength Prg4em1(IMPC)Ccpcz HOM Early adult 2.21×10-21
decreased body weight Prg4em1(IMPC)Ccpcz HOM Early adult 8.11×10-07
abnormal skin morphology Prg4em1(IMPC)Ccpcz HOM Early adult 0.00
increased circulating potassium level Prg4em1(IMPC)Ccpcz HOM   Early adult 9.11×10-06
abnormal joint morphology Prg4em1(IMPC)Ccpcz HOM Early adult 6.08×10-10
decreased exploration in new environment Prg4em1(IMPC)Ccpcz HOM Early adult 3.11×10-06
increased anxiety-related response Prg4em1(IMPC)Ccpcz HOM   Early adult 3.38×10-07

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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.

X-ray

XRay Images Whole Body Dorso Ventral

34 Images

X-ray

XRay Images Hind Leg and Hip

34 Images

X-ray

XRay Images Whole Body Lateral Orientation

17 Images

X-ray

XRay Images Forepaw

17 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

17 Images

X-ray

XRay Images Skull Lateral Orientation

17 Images

Human diseases caused by Prg4 mutations

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

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

The table below shows human diseases associated to Prg4 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Synovial hypertrophy, Flattened metacarpal heads, Congenital finger flexion contractures, Flatten... OMIM:208250

The table below shows human diseases predicted to be associated to Prg4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Arthrogryposis, Distal, Type 10
Distal arthrogryposis, Hamstring contractures, Arthrogryposis multiplex congenita, Wrist flexion ... OMIM:187370
Osteochondritis Dissecans
Limited elbow flexion, Gait disturbance, Abnormality of the knee, Abnormal joint morphology, Quad... ORPHA:2764
Panner Disease
Irregular articular surfaces of the elbow joints, Abnormality of the humerus, Osteochondrosis, Ab... ORPHA:97336
Arthrogryposis, Congenital, Lower Limb, X-Linked
Ankle flexion contracture, Gait disturbance, Hip contracture, Arthrogryposis multiplex congenita,... OMIM:300158
Osgood-Schlatter Disease
Irregular proximal tibial epiphyses, Limited knee extension, Shuffling gait, Abnormal patella mor... ORPHA:97335
Intermittent Hydrarthrosis
Joint swelling, Chondrocalcinosis, Abnormality of the knee, Knee joint hypermobility ORPHA:329967
Sinding-Larsen-Johansson Disease
Osteochondrosis, Painless fractures due to injury, Knee pain, Limitation of knee mobility, Joint ... ORPHA:97337
Arthrogryposis, Distal, Type 1B
Contractures involving the joints of the feet, Distal arthrogryposis, Rocker bottom foot, Talipes... OMIM:614335
Progressive Pseudorheumatoid Dysplasia
Enlargement of the proximal femoral epiphysis, Enlarged epiphyses, Genu varum, Enlarged metacarpo... OMIM:208230
Familial Calcium Pyrophosphate Deposition
Chondrocalcinosis, Joint dislocation, Arthritis, Calcification of cartilage, Limitation of joint ... ORPHA:1416
Genochondromatosis Type 1
Abnormality of the knee, Multiple enchondromatosis ORPHA:85197
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Premature epimetaphyseal fusion, Polyarticular arthritis, Synovitis, Abnormality of epiphysis mor... ORPHA:85435
Acrocephalopolysyndactyly Type Iv
Ulnar deviation of the hand or of fingers of the hand, Joint contracture of the hand, Radial devi... OMIM:201020
Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome
Abnormality of lower limb joint, Camptodactyly of finger ORPHA:85164
Tenosynovial Giant Cell Tumor
Synovial hypertrophy, Abnormal hip joint morphology, Chondrocalcinosis, Abnormality of the knee, ... ORPHA:66627
Popliteal Cyst
Joint swelling, Abnormality of the knee OMIM:175750
Mosaic Trisomy 15
Deviation of finger, Camptodactyly of finger, Abnormality of the hand ORPHA:1706
Progressive Pseudorheumatoid Arthropathy Of Childhood
Abnormal ilium morphology, Genu varum, Abnormal hip joint morphology, Abnormality of the knee, Ab... ORPHA:1159
Cranio-Osteoarthropathy
Abnormality of tibia morphology, Abnormality of the knee, Arthritis, Deviation of finger, Clubbin... ORPHA:1525
Osteochondrosis Of The Tarsal Bone
Tarsal stippling, Abnormal tarsal ossification, Chondritis, Tarsal sclerosis, Arthritis, Ankle pa... ORPHA:563991
Camptodactyly 1
Knee dislocation, Joint subluxation, Camptodactyly of finger OMIM:114200
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Enlarged epiphyses, Osteoporosis, Joint contracture of the hand, Osteopenia, Camptodactyly OMIM:264010
Syndactyly Type 2
2-3 toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges of the hand, San... ORPHA:93403
Arthrogryposis, Mental Retardation, And Seizures
Knee dislocation, Arthrogryposis multiplex congenita, Hip dislocation, Flexion contracture, Campt... OMIM:615553
Legg-Calvé-Perthes Disease
Skeletal muscle atrophy, Joint dislocation, Cartilage destruction, Delayed skeletal maturation, A... ORPHA:2380
Metaphyseal Dysplasia, Spahr Type
Short lower limbs, Metaphyseal dysplasia, Metaphyseal widening, Genu valgum, Metaphyseal sclerosi... OMIM:250400
Spondylocamptodactyly
Camptodactyly of finger, Camptodactyly OMIM:600000
Epiphyseal Dysplasia, Multiple, 2
Irregular epiphyses, Small epiphyses, Flattened knee epiphyses, Genu varum, Knee osteoarthritis, ... OMIM:600204
Digitotalar Dysmorphism
Ulnar deviation of finger, Rocker bottom foot, Camptodactyly of finger OMIM:126050
Arthrogryposis, Distal, Type 2B2
Metatarsus adductus, Adducted thumb, Talipes equinovarus, Tapered finger, Sandal gap, Hip disloca... OMIM:618435
Osteosarcoma
Abnormality of the metaphysis, Pathologic fracture, Abnormality of the femoral metaphysis, Abnorm... ORPHA:668
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Cognitive impairment, Emotional lability, Anxiety, Atten... ORPHA:280397
Synpolydactyly 1
4-5 toe syndactyly, 3-4 finger syndactyly, 2nd-5th toe middle phalangeal hypoplasia, Short middle... OMIM:186000
Hemochromatosis Type 4
Joint dislocation, Joint swelling, Limitation of joint mobility ORPHA:139491
Liebenberg Syndrome
Metaphyseal widening, Brachydactyly, Radially deviated wrists, 2-3 finger syndactyly, Abnormality... OMIM:186550
Corpus Callosum, Agenesis Of
Joint contracture of the hand, Camptodactyly OMIM:217990
Syndactyly Type 5
2-3 toe syndactyly, Metacarpal synostosis, Ulnar deviation of finger, 3-4 finger syndactyly, Shor... ORPHA:93406
Syndactyly Type 3
Short toe, Camptodactyly of finger, Finger syndactyly ORPHA:93404
Severe Primary Trimethylaminuria
Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity, Anxiety, Depression ORPHA:468726
Farber Lipogranulomatosis
Osteolysis involving bones of the feet, Hyperextensibility of the finger joints, Arthritis, Ulnar... OMIM:228000
Camptodactyly With Fibrous Tissue Hyperplasia And Skeletal Dysplasia
Arachnodactyly, Camptodactyly, Joint contracture of the hand, Hammertoe OMIM:211930
Wahab Syndrome
Ankylosis, Adducted thumb, Short foot, Syndactyly, Short thumb, Short metacarpal, Short palm, Cam... OMIM:615170
Rheumatoid Arthritis
Polyarticular arthritis, Digital flexor tenosynovitis, Swan neck-like deformities of the fingers,... OMIM:180300
Metachondromatosis
Bowing of the long bones, Abnormal joint morphology, Multiple enchondromatosis OMIM:156250
Spondyloepiphyseal Dysplasia Tarda
Knee osteoarthritis, Abnormality of the tibial plateaux, Dysplasia of the femoral head, Increased... ORPHA:93284
Multiple Epiphyseal Dysplasia Type 1
Abnormal acetabulum morphology, Gait disturbance, Genu varum, Arthralgia of the hip, Short long b... ORPHA:93308
Camptosynpolydactyly, Complex
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly OMIM:607539
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Synovial hypertrophy, Flattened metacarpal heads, Congenital finger flexion contractures, Flatten... OMIM:208250
Distal Arthrogryposis Type 1
Adducted thumb, Rocker bottom foot, Ulnar deviation of finger, Overlapping fingers, Camptodactyly... ORPHA:1146
Juvenile Idiopathic Arthritis
Abnormal joint morphology, Pericardial effusion, Abnormal sacroiliac joint morphology, Joint disl... ORPHA:92
Autosomal Recessive Spastic Paraplegia Type 45
Ankle flexion contracture, Spastic gait, Flexion contracture of toe, Knee flexion contracture ORPHA:320396
Majeed Syndrome
Osteomyelitis, Delayed skeletal maturation, Flexion contracture, Joint swelling, Bone pain OMIM:609628
Syndactyly Type 4
Toe syndactyly, 1-5 finger syndactyly, Triphalangeal thumb, Foot polydactyly, Camptodactyly of fi... ORPHA:93405
Syndactyly, Type V
Cutaneous finger syndactyly, 4-5 toe syndactyly, Joint contracture of the hand, 3-4 toe syndactyl... OMIM:186300
Coloboma Of Macula-Brachydactyly Type B Syndrome
Broad thumb, Type B brachydactyly, Short distal phalanx of finger, Camptodactyly of finger ORPHA:1471
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Synovial hypertrophy, Abnormality of the hand, Abnormal hip joint morphology, Synovitis, Ankle sw... ORPHA:85408
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Clinodactyly of the 5th finger, Short thumb, Overlapping toe, Camptodactyly OMIM:618453
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Ankle flexion contracture, Scapular muscle atrophy, Congenital finger flexion contractures, Hamst... ORPHA:267
Masa Syndrome
Hand clenching, Gait disturbance, Clinodactyly of the 5th finger, Camptodactyly of finger ORPHA:2466
Spastic Paraplegia 20, Autosomal Recessive
Hammertoe, Distal amyotrophy, Hyperextensible hand joints, Dysmetria, Spastic gait, Short foot, D... OMIM:275900
Patterson Pseudoleprechaunism Syndrome
Irregular acetabular roof, Palmoplantar cutis laxa, Large hands, Genu valgum, Marked delay in bon... OMIM:169170
Brachydactyly-Distal Symphalangism Syndrome
Chess-pawn distal phalanges, Aplasia of the middle phalanx of the hand, Distal symphalangism of h... OMIM:113450
Moderate Hemophilia A
Synovitis, Hip contracture, Joint hemorrhage, Cartilage destruction, Limitation of joint mobility... ORPHA:169805
Bethlem Myopathy 1
Ankle flexion contracture, Myopathy, Skeletal muscle atrophy, Torticollis, Camptodactyly of finge... OMIM:158810
Ectrodactyly-Polydactyly Syndrome
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Abnormality of the metacarp... ORPHA:1892
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
Syndactyly, Camptodactyly, Joint contracture of the hand, Split hand OMIM:225280
Distal Symphalangism
Joint stiffness, Symphalangism affecting the phalanges of the hand, Synostosis of carpal bones, C... ORPHA:3248
Epidermolytic Palmoplantar Keratoderma
Interphalangeal joint contracture of finger, Clubbing, Palmoplantar hyperkeratosis, Palmar hyperk... ORPHA:2199
Brachydactyly, Type B1
Cutaneous finger syndactyly, Short middle phalanx of finger, Vertebral fusion, Broad thumb, Joint... OMIM:113000
Hemophilia A
Joint hemorrhage, Joint swelling, Abnormality of the elbow, Intramuscular hematoma ORPHA:98878
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Ankle flexion contracture, Distal arthrogryposis, Hip contracture, Talipes equinovarus, Arthrogry... OMIM:617468
Extensor Tendons Of Finger Anomalies
Skeletal muscle atrophy, Osteoporosis, Limitation of joint mobility, Camptodactyly of finger, Mul... ORPHA:3294
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Syndactyly, Camptodactyly, Oligodactyly, Short digit, Short phalanx of finger,... OMIM:610713
Arthrogryposis, Distal, Type 1A
Single transverse palmar crease, Adducted thumb, Rocker bottom foot, Hip contracture, Talipes equ... OMIM:108120
Familial Afibrinogenemia
Joint swelling ORPHA:98880
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
Hip contracture, Adducted thumb, Inguinal hernia, Knee flexion contracture, Camptodactyly, Umbili... OMIM:616266
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Talipes equinovarus, Joint contracture of the hand, Camptodactyly, Small thenar eminence, Small h... OMIM:211960
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Dementia, Inappropriate behavior, Apathy, Bradykinesia, Shuffling gait, Falls, Short stepped shuf... ORPHA:412066
Proximal Symphalangism
Tarsal synostosis, Proximal symphalangism, Elbow ankylosis, Metacarpophalangeal synostosis, Synos... ORPHA:3250
Chromosome 16P13.3 Duplication Syndrome
Tapered finger, Long fingers, Short toe, Proximal placement of thumb, Hip dislocation, Camptodact... OMIM:613458
Systemic-Onset Juvenile Idiopathic Arthritis
Juvenile rheumatoid arthritis, Joint swelling, Pleural effusion ORPHA:85414
Severe Hemophilia A
Limb joint contracture, Synovitis, Joint hemorrhage, Limitation of joint mobility, Progressive jo... ORPHA:169802
Partington Syndrome
Limb dystonia, Focal dystonia, Flexion contracture, Camptodactyly OMIM:309510
Arthrogryposis, distal, with hypopituitarism, mental retardation,and facial anomalies
Distal arthrogryposis, Arthrogryposis multiplex congenita, Camptodactyly of finger, Hammertoe OMIM:208080
Stiff Skin Syndrome
Limited shoulder movement, Lipodystrophy, Knee flexion contracture, Camptodactyly, Elbow flexion ... OMIM:184900
Fetal Akinesia Deformation Sequence 4
Skeletal muscle atrophy, Rocker bottom foot, Arthrogryposis multiplex congenita, Polyhydramnios, ... OMIM:618393
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Limb undergrowth, Joint contracture of the hand, Overlapping fingers, Camptodactyly, Micromelia OMIM:601016
Mesomelic Limb Shortening And Bowing
Mesomelic leg shortening, Bowing of the legs, Mesomelic arm shortening, Camptodactyly of finger, ... OMIM:249710
Alkaptonuria
Tendon rupture, Joint dislocation, Cartilage destruction, Arthritis, Calcification of cartilage, ... ORPHA:56
Wilson Disease
Proximal muscle weakness in lower limbs, Arthritis, Pathologic fracture, Difficulty walking, Join... ORPHA:905
Huntington Disease-Like 2
Dystonia, Dementia, Weight loss, Apathy, Bradykinesia, Irritability, Anxiety, Depression OMIM:606438
Pseudoleprechaunism Syndrome, Patterson Type
Palmoplantar cutis laxa, Delayed pubic bone ossification, Large hands, Genu valgum, Metaphyseal s... ORPHA:2976
Myoclonus-Dystonia Syndrome
Dystonia, Writer's cramp, Torticollis, Personality disorder, Panic attack, Anxiety, Depression ORPHA:36899
Chromosome 20Q11-Q12 Deletion Syndrome
Adducted thumb, Tarsal osteovalgus, Camptodactyly, Finger clinodactyly, Brachydactyly OMIM:614257
Eng-Strom Syndrome
Brachydactyly, Arthritis, Camptodactyly of finger ORPHA:1937
Mesomelic Dysplasia, Kantaputra Type
Tarsal synostosis, Abnormality of the humerus, Ulnar deviation of finger, Cubitus valgus, Synosto... ORPHA:1836
Perching Syndrome
Flexion contracture, Camptodactyly OMIM:617055
Symptomatic Form Of Hemochromatosis Type 1
Decreased muscle mass, Osteoporosis, Arthritis, Abnormality of metacarpophalangeal joint, Joint s... ORPHA:465508
Aphalangy-Syndactyly-Microcephaly Syndrome
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Short distal phalanx of finger... ORPHA:1113
Leri Pleonosteosis
Gait disturbance, Broad thumb, Abnormality of epiphysis morphology, Cubitus valgus, Abnormality o... ORPHA:2900
Adult-Onset Still Disease
Joint swelling, Cartilage destruction, Arthritis ORPHA:829
Ulnar Hemimelia
Limited elbow flexion, Radial club hand, Metacarpal synostosis, Short forearm, Ulnar deviated clu... ORPHA:93320
Dysplasia Epiphysealis Hemimelica With Chondromas And Osteochondromas
Joint swelling OMIM:127820
Lyme Disease
Joint swelling, Arthritis ORPHA:91546
Blau Syndrome
Flexion contracture of toe, Synovitis, Arthritis, Cystoid macular edema, Camptodactyly of finger,... OMIM:186580
Cerebrooculofacioskeletal Syndrome 1
Rocker bottom foot, Second metatarsal posteriorly placed, Osteoporosis, Joint contracture of the ... OMIM:214150
Hyperekplexia 4
Distal arthrogryposis, Adducted thumb, Talipes equinovarus, Inguinal hernia, Flexion contracture,... OMIM:618011
Pachydermoperiostosis
Genu varum, Abnormality of epiphysis morphology, Edema, Palmoplantar keratoderma, Small hand, Art... ORPHA:2796
Aase-Smith Syndrome
Talipes equinovarus, Aplasia/Hypoplasia of the radius, Slender finger, Camptodactyly of finger, J... ORPHA:916
20Q11.2 Microdeletion Syndrome
Finger clinodactyly, Adducted thumb, Brachydactyly, Camptodactyly ORPHA:444051
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Ataxia, Mental deterioration, Anxiety, Attention deficit hyperactivity disorder, Depre... OMIM:619191
Sillence Syndrome
Broad metatarsal, Metatarsus adductus, Short middle phalanx of finger, Large tarsal bones, Chess-... ORPHA:3168
Camptodactyly-Taurinuria Syndrome
Camptodactyly of toe, Camptodactyly of finger ORPHA:1325
Whistling Face Syndrome, Recessive Form
Shoulder flexion contracture, Talipes equinovarus, Ulnar deviation of finger, Knee flexion contra... OMIM:277720
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal metacarpal morphology, Abnormality of epiphysis morphology, Bowing of the long bones, Ab... ORPHA:2631
Arthrogryposis, Distal, Type 2B3
Hallux valgus, Overlapping fingers, Talipes equinovarus, Camptodactyly OMIM:618436
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Small epiphyses, Tapered finger, Metaphyseal irregularity, Slender finger, Genu valgum, Pseudoepi... OMIM:601668
Emery-Nelson Syndrome
Metacarpophalangeal joint contracture, Abnormal thumb morphology, Camptodactyly of finger, Contra... ORPHA:1927
Multiple Epiphyseal Dysplasia Type 5
Abnormal acetabulum morphology, Gait disturbance, Genu varum, Abnormal hip joint morphology, Abno... ORPHA:93311
Farber Disease
Skeletal muscle atrophy, Abnormality of the knee, Abnormality of the elbow, Ascites, Short finger... ORPHA:333
Ophthalmomandibulomelic Dysplasia
Abnormality of bone mineral density, Aplasia/Hypoplasia of the radius, Symphalangism affecting th... ORPHA:2741
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia, Failure to thrive OMIM:143860
Arthrogryposis, Distal, Type 4
Tibial deviation of toes, Deviation of the 2nd toe, Distal arthrogryposis, Talipes equinovarus, C... OMIM:609128
Spondylocamptodactyly Syndrome
Camptodactyly of finger ORPHA:3180
Myopathy, Congenital, Compton-North
Arachnodactyly, Joint contracture of the hand, Polyhydramnios, Akinesia, Overlapping fingers, Cam... OMIM:612540
Arthrogryposis, Distal, Type 1C
Shoulder flexion contracture, Adducted thumb, Rocker bottom foot, Hip contracture, Talipes equino... OMIM:619110
Limb-Mammary Syndrome
Hallux valgus, Joint contracture of the hand, Split hand, Syndactyly, Camptodactyly, Split foot OMIM:603543
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Gait disturbance, Ulnar deviation of finger, Camptodactyly of finger, Abnormality of pelvic girdl... ORPHA:2928
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Gait disturbance, Wrist swelling, Abnormality of epiphysis morphology, Metacarpal osteolysis, Pol... ORPHA:2774
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome
Gait disturbance, Skeletal muscle atrophy, Hip dislocation, Slender long bone, Limitation of join... ORPHA:2840
Martsolf Syndrome 2
Overlapping toe, Camptodactyly of finger, Camptodactyly OMIM:619420
Mesomelic Dysplasia, Nievergelt Type
Tarsal synostosis, Abnormality of the ulna, Genu varum, Aplasia/Hypoplasia of the radius, Genu va... ORPHA:2633
Pandas
Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritability, Emotional labi... ORPHA:66624
Camptodactyly Syndrome, Guadalajara Type 2
Short 5th toe, Short 2nd toe, Talipes equinovarus, Hip dislocation, Short 3rd toe, Camptodactyly ... ORPHA:1326
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteomyelitis, Osteopenia, Fused cervical vertebrae, Joint swelling, Osteolysis OMIM:612852
Erdheim-Chester Disease
Abnormality of epiphysis morphology, Abnormality of the metaphysis, Osteomyelitis, Ataxia, Avascu... ORPHA:35687
Birk-Landau-Perez Syndrome
Hyperkalemia, Dystonia, Cognitive impairment, Ataxia, Difficulty walking OMIM:617595
Spondyloenchondrodysplasia With Immune Dysregulation
Metaphyseal dysplasia, Short iliac bones, Metaphyseal widening, Metaphyseal irregularity, Rheumat... OMIM:607944
Myasthenic Syndrome, Congenital, 24, Presynaptic
Knee flexion contracture, Camptodactyly OMIM:618198
Bethlem Myopathy
Generalized amyotrophy, Quadriceps muscle weakness, Camptodactyly of finger, Elbow flexion contra... ORPHA:610
Arthrogryposis, Distal, Type 2A
Hip contracture, Talipes equinovarus, Joint contracture of the hand, Camptodactyly, Elbow flexion... OMIM:193700
Reactive Arthritis
Cartilage destruction, Arthritis, Osteomyelitis, Joint stiffness, Joint swelling, Enthesitis ORPHA:29207
Desbuquois Syndrome
Aplasia/Hypoplasia of the abdominal wall musculature, Abnormal femoral neck/head morphology, Smal... ORPHA:1425
Mixed Connective Tissue Disease
Myositis, Xerostomia, Arthritis, Avascular necrosis, Joint stiffness, Joint swelling, Osteolysis ORPHA:809
Contractural Arachnodactyly, Congenital
Metatarsus adductus, Distal arthrogryposis, Adducted thumb, Congenital finger flexion contracture... OMIM:121050
Camptodactyly-Fibrous Tissue Hyperplasia-Skeletal Dysplasia Syndrome
Arachnodactyly, Camptodactyly of finger ORPHA:1321
Dyggve-Melchior-Clausen Disease
Genu varum, Talipes equinovarus, Short metatarsal, Prominent calcaneus, Rhizomelic arm shortening... OMIM:223800
Moebius Syndrome
Gait disturbance, Talipes equinovarus, Facial diplegia, Lower limb undergrowth, Hand clenching, C... OMIM:157900
Frontonasal Dysplasia 1
Frontal cutaneous lipoma, Joint contracture of the hand, Radial deviation of finger, Pericallosal... OMIM:136760
Multiple Epiphyseal Dysplasia Type 4
Flattened radial epiphyses, Upper limb undergrowth, Talipes equinovarus, Short metatarsal, Acromi... ORPHA:93307
Catifa Syndrome
Gait disturbance, Attention deficit hyperactivity disorder, Inguinal hernia, Camptodactyly OMIM:618761
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lipodystrophy, Panniculitis, Joint swelling OMIM:617099
Arthrogryposis, Distal, Type 5D
Decreased muscle mass, Adducted thumb, Talipes equinovarus, Arthrogryposis multiplex congenita, H... OMIM:615065
Catel-Manzke Syndrome
Single transverse palmar crease, Talipes equinovarus, Umbilical hernia, Joint dislocation, Inguin... OMIM:616145
Pseudodiastrophic Dysplasia
Talipes equinovarus, Rhizomelia, Camptodactyly, Elbow dislocation, Phalangeal dislocation OMIM:264180
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Tarsal synostosis, Vertebral fusion, Hip contracture, Craniosynostosis, Arthrogryposis multiplex ... OMIM:178110
Monosomy 22
Clubbing, Finger syndactyly, Contractures of the large joints, Clinodactyly of the 5th finger, Jo... ORPHA:96123
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia, Failure to thrive OMIM:614736
Acropectorovertebral Dysplasia
Tarsal synostosis, Triphalangeal thumb, Synostosis of carpal bones, Finger syndactyly, Short dist... ORPHA:957
Larsen-Like Syndrome, Lethal Type
Multiple joint dislocation, Joint dislocation, Abnormal cartilage matrix OMIM:245650
Posterior Column Ataxia With Retinitis Pigmentosa
Skeletal muscle atrophy, Joint contracture of the hand, Ataxia, Broad-based gait, Camptodactyly, ... OMIM:609033
Summitt Syndrome
Craniosynostosis, Finger syndactyly, Genu valgum, Camptodactyly of finger, Short palm, Prominent ... ORPHA:3210
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level, Failure to thrive OMIM:610600
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level, Failure to thrive OMIM:203400
Schaaf-Yang Syndrome
Rocker bottom foot, Tapered finger, Narrow palm, Small hand, Arthrogryposis multiplex congenita, ... OMIM:615547
Congenital Disorder Of Glycosylation, Type Ie
Ankle flexion contracture, Upper limb undergrowth, Small hand, Knee flexion contracture, Muscular... OMIM:608799
Camptobrachydactyly
Toe syndactyly, Ulnar deviation of finger, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Ca... ORPHA:1319
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Facial palsy, Joint contracture of the hand, Superior rectus atrophy, Wrist flexion contracture, ... OMIM:600638
Arthrogryposis, Distal, With Impaired Proprioception And Touch
Talipes equinovarus, Arachnodactyly, Sandal gap, Inability to walk, Hip dysplasia, Flexion contra... OMIM:617146
Joubert Syndrome 18
Joint laxity, Polydactyly, Camptodactyly OMIM:614815
Cousin Syndrome
Fibular aplasia, Toe syndactyly, 2-3 toe syndactyly, 4-5 toe syndactyly, Hypoplastic scapulae, Hy... OMIM:260660
Fibrochondrogenesis 1
Omphalocele, Broad ischia, Broad long bones, Hypoplastic scapulae, Rhizomelia, Fibular hypoplasia... OMIM:228520
Carpenter Syndrome 1
Omphalocele, Genu varum, Joint contracture of the hand, Deviation of finger, Shallow acetabular f... OMIM:201000
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular duplicati... ORPHA:3332
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Peroneal muscle atrophy, Gait disturbance, Weakness of the intrinsic hand muscles, Writer's cramp... ORPHA:324442
Systemic Sclerosis
Abnormal phalangeal joint morphology of the hand, Arthritis, Osteomyelitis, Acral ulceration, Fle... ORPHA:90291
Atelosteogenesis Type Ii
Short lower limbs, Upper limb undergrowth, Excessive femoral anteversion, Hitchhiker thumb, Rhizo... ORPHA:56304
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Broad long bones, Adducted thumb, Metaphyseal widening, Bowing of the long bones, Joint contractu... OMIM:224400
Spinocerebellar Ataxia, Autosomal Recessive 20
Talipes equinovarus, Macroglossia, Ataxia, Inability to walk, Camptodactyly, Clinodactyly, Brachy... OMIM:616354
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Hyperactivity, Irrit... ORPHA:3077
Pallister W Syndrome
Metatarsus adductus, Radial bowing, Cubitus valgus, Joint contracture of the hand, Radial deviati... OMIM:311450
Chikungunya
Synovitis, Arthritis, Facial edema, Ankle joint effusion, Osteolysis, Knee pain, Joint stiffness,... ORPHA:324625
Imagawa-Matsumoto Syndrome
Large hands, Camptodactyly, Accelerated skeletal maturation, Clinodactyly, Umbilical hernia OMIM:618786
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Arthrogryposis multiplex congenita, Overlapping toe, Camptodactyly OMIM:614262
Rahman Syndrome
Accelerated skeletal maturation, Talipes equinovarus, Camptodactyly OMIM:617537
W Syndrome
Metatarsus adductus, Radial bowing, Cubitus valgus, Camptodactyly, Elbow dislocation, Clinodactyl... ORPHA:2804
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Ankle flexion contracture, Tapered finger, Knee flexion contracture, Finger syndactyly, Camptodac... ORPHA:435938
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypomagnesemia, Hyperactivity, Hypokalemia, Self-biting OMIM:618314
Arthrogryposis, Distal, Type 2B1
Metatarsus adductus, Distal arthrogryposis, Rocker bottom foot, Absent phalangeal crease, Talipes... OMIM:601680
Perry Syndrome
Dystonia, Inappropriate behavior, Suicidal ideation, Weight loss, Apathy, Bradykinesia, Short ste... OMIM:168605
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Hyponatremia, Increased circulating renin level, Failure to thrive OMIM:177735
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Osteoporosis, Syndactyly, Camptodactyly, Lymphedema OMIM:616006
Weaver Syndrome
Talipes equinovarus, Joint contracture of the hand, Diastasis recti, Limited elbow extension, Cam... OMIM:277590
Wieacker-Wolff Syndrome
Dystonia, Talipes equinovarus, Distal amyotrophy, Facial palsy, Arthrogryposis multiplex congenit... OMIM:314580
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Tapered finger, Joint dislocation, Short toe, Short foot, Short distal phalanx of finger, Camptod... ORPHA:3201
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level, Failure to thrive ORPHA:556037
Crisponi/Cold-Induced Sweating Syndrome 1
Adducted thumb, Talipes equinovarus, Tapered finger, Facial palsy, Radial deviation of finger, Li... OMIM:272430
Warburg-Cinotti Syndrome
Ankle flexion contracture, Wrist flexion contracture, Flexion contracture of finger, Joint swelli... OMIM:618175
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperkalemia, Hyponatremia, Failure to thrive OMIM:264350
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Gait disturbance, Osteomyelitis, Ataxia, Camptodactyly, Flexion contracture of finger, Gait ataxia ORPHA:88628
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level, Failure to thrive ORPHA:556030
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Alkuraya-Kucinskas Syndrome
Pericardial effusion, Adducted thumb, Talipes equinovarus, Hand clenching, Edema, Arthrogryposis ... OMIM:617822
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Multicentric Osteolysis, Nodulosis, And Arthropathy
C1-C2 subluxation, Hip contracture, Protrusio acetabuli, Sclerotic cranial sutures, Distal taperi... OMIM:259600
Generalized Pseudohypoaldosteronism Type 1
Hyperkalemia, Hyponatremia, Failure to thrive in infancy, Weight loss, Increased circulating reni... ORPHA:171876
Split-Hand/Foot Malformation 3
Camptodactyly, Split hand OMIM:246560
Classical Ehlers-Danlos Syndrome
Limb pain, Talipes equinovarus, Umbilical hernia, Cigarette-paper scars, Phalangeal dislocation, ... ORPHA:287
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Omphalocele, Single transverse palmar crease, Macroglossia, Inguinal hernia, Polyhydramnios, Wris... ORPHA:254528
Oculocerebrorenal Syndrome Of Lowe
Umbilical hernia, Abnormality of epiphysis morphology, Abnormal dental enamel morphology, Arthrit... ORPHA:534
Idiopathic Hypereosinophilic Syndrome
Skeletal muscle atrophy, Ankle swelling, Angioedema, Arthritis, Clubbing, Swelling of proximal in... ORPHA:3260
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Ataxia, Inability to walk OMIM:608885
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Femoral bowing, Rocker bottom foot, Narrow pelvis bone, Ulnar bowing, Arachnodactyly, Wide anteri... OMIM:207410
Peroxisome Biogenesis Disorder 2A (Zellweger)
Metatarsus adductus, Talipes equinovarus, Cubitus valgus, Joint contracture of the hand, Palpebra... OMIM:214110
Peroxisome Biogenesis Disorder 5A (Zellweger)
Metatarsus adductus, Talipes equinovarus, Epiphyseal stippling, Cubitus valgus, Palpebral edema, ... OMIM:614866
Chromosome 8Q21.11 Deletion Syndrome
Syndactyly, Camptodactyly OMIM:614230
Arthrogryposis, Distal, Type 3
Cutaneous finger syndactyly, Distal arthrogryposis, Decreased muscle mass, Talipes equinovarus, U... OMIM:114300
Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Failure to thrive, Increased circulating renin level, Lethargy ORPHA:427
Acromegaly
Tapered finger, Deep palmar crease, Large hands, Macroglossia, Macrodactyly, Cortical diaphyseal ... ORPHA:963
Somatomammotropinoma
Tapered finger, Deep palmar crease, Large hands, Macroglossia, Macrodactyly, Cortical diaphyseal ... ORPHA:314769
Fibrosclerosis, Multifocal
Joint contracture of the hand, Camptodactyly of finger OMIM:228800
Geroderma Osteodysplasticum
Tibial bowing, Increased susceptibility to fractures, Osteoporosis, Wormian bones, Osteopenia, Ca... OMIM:231070
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Hyperkalemic Periodic Paralysis
Hyperkalemia, Hyponatremia, Gait disturbance, Hypokalemia, Elevated circulating creatine kinase c... ORPHA:682
13Q12.3 Microdeletion Syndrome
Congenital diaphragmatic hernia, Hyperactivity, Hip dysplasia, Camptodactyly, Upper eyelid edema,... ORPHA:412035
Camptobrachydactyly
Congenital finger flexion contractures, Short toe, Syndactyly, Hand polydactyly, Brachydactyly OMIM:114150
Robinow Syndrome, Autosomal Recessive 2
Omphalocele, Mesomelia, Camptodactyly, Ventral hernia, Broad thumb, Clinodactyly, Brachydactyly OMIM:618529
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia OMIM:141000
Arthrogryposis Multiplex Congenita 5
Dystonia, Adducted thumb, Rocker bottom foot, Hammertoe, Talipes equinovarus, Hand clenching, Art... OMIM:618947
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Alg8-Cdg
Ascites, Talipes equinovarus, Macroglossia, Edema, Abnormality of subcutaneous fat tissue, Ataxia... ORPHA:79325
Bohring-Opitz Syndrome
Broad palm, Tapered finger, Joint dislocation, Dislocated radial head, Polyhydramnios, Mesomelic/... OMIM:605039
Recombinant Chromosome 8 Syndrome
Clinodactyly of the 5th finger, Joint contracture of the hand, Camptodactyly OMIM:179613
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Clinodactyly, Brachydactyly, Camptodactyly OMIM:613604
Stevenson-Carey Syndrome
Hip dysplasia, Joint contracture of the hand, Camptodactyly OMIM:611961
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hip contracture, Slender finger, Hip subluxation, Elbow flexion contracture, Fetal ascites, Multi... OMIM:619503
Pseudohypoaldosteronism, Type Iia
Hyperkalemia OMIM:145260
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:268200
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Cutaneous finger syndactyly, Pericardial effusion, Talipes equinovarus, Hypoplastic iliac wing, S... OMIM:235510
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia OMIM:240200
Camptodactyly Syndrome, Guadalajara, Type Iii
Absent phalangeal crease, Torticollis, Small hypothenar eminence, Joint contracture of the hand, ... OMIM:611929
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Adducted thumb, Talipes equinovarus, Facial hypotonia, Arachnodactyly, Camptodactyly, Inguinal he... OMIM:615539
Ritscher-Schinzel Syndrome 2
Syndactyly, Short distal phalanx of finger, Broad hallux, Camptodactyly, Clinodactyly, Overlappin... OMIM:300963
Sandestig-Stefanova Syndrome
Rocker bottom foot, Bilateral single transverse palmar creases, Camptodactyly, Prominent metopic ... OMIM:618804
Blau Syndrome
Polyarticular arthritis, Synovitis, Xerostomia, Facial palsy, Camptodactyly of finger, Limitation... ORPHA:90340
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Ataxia, Camptodactyly of finger OMIM:214980
Marden-Walker Syndrome
Decreased muscle mass, Talipes equinovarus, Congenital contracture, Arachnodactyly, Joint contrac... OMIM:248700
Early-Onset Schizophrenia
Unhappy demeanor, Low self esteem, Suicidal ideation, Cognitive impairment, Irritability, Anhedon... ORPHA:96369
Meier-Gorlin Syndrome 1
Cutaneous finger syndactyly, Genu varum, Talipes equinovarus, Joint contracture of the hand, Dela... OMIM:224690
Congenital Disorder Of Glycosylation, Type Ih
Talipes equinovarus, Oligohydramnios, Ascites, Camptodactyly OMIM:608104
Pseudohypoaldosteronism Type 2
Hyperkalemia ORPHA:757
Congenital Disorder Of Glycosylation, Type Iig
Talipes equinovarus, Rhizomelia, Small hand, Osteopenia, Left ventricular hypertrophy, Short foot... OMIM:611209
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Joint contracture of the hand, Camptodactyly OMIM:608257
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Talipes equinovarus, Camptodactyly OMIM:617333
Meester-Loeys Syndrome
Joint hypermobility, Joint dislocation, Flexion contracture, Camptodactyly OMIM:300989
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Talipes equinovarus, Macroglossia, Ataxia, Palpebral edema, Broad-based gait, Camptodactyly, Clin... ORPHA:397709
Pseudohypoaldosteronism, Type Iib
Hyperkalemia, Hyperchloremia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperkalemia, Hyperchloremia OMIM:614495
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Small hand, Attention deficit hyperactivity disorder, Bilateral single transverse palmar creases,... ORPHA:459061
Dpm1-Cdg
Limb undergrowth, Knee flexion contracture, Sandal gap, Muscular dystrophy, Ataxia, Long hallux, ... ORPHA:79322
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Abnormality of the hand, Macroglossia, Hyperactivity, Ataxia, Syndactyly, Camptodactyly, Clinodac... ORPHA:369891
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia, Difficulty walking ORPHA:99845
Meier-Gorlin Syndrome 2
Aplasia/Hypoplasia of the patella, Joint hypermobility, Slender long bone, Delayed skeletal matur... OMIM:613800
Chromosome 2P16.1-P15 Deletion Syndrome
Metatarsus adductus, Arachnodactyly, Joint contracture of the hand, Camptodactyly, Attention defi... OMIM:612513
Neuroleptic Malignant Syndrome
Hyperkalemia, Hyponatremia, Hypernatremia, Elevated circulating creatine kinase concentration, Hy... ORPHA:94093
Hunter-Macdonald Syndrome
Metatarsus adductus, 2-3 toe syndactyly, Premature osteoarthritis, Cubitus valgus, Epiphyseal dys... OMIM:611962
Shprintzen-Goldberg Craniosynostosis Syndrome
Metatarsus adductus, Talipes equinovarus, Metaphyseal widening, Craniosynostosis, Dislocated radi... OMIM:182212
Chromosome 13Q33-Q34 Deletion Syndrome
Talipes equinovarus, Tapered finger, Small thenar eminence, Left ventricular hypertrophy, Hyperac... OMIM:619148
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Tapered finger, Dysmetria, Ataxia, Inability to walk, Camptodactyly, Clinodactyly OMIM:619576
Pseudohypoaldosteronism, Type Iic
Hyperkalemia, Hyperchloremia OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperkalemia, Hyperchloremia OMIM:614496
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Metacarpal synostosis, Talipes equinovarus, Cubitus valgus, Limited elbow extension, Camptodactyl... ORPHA:95699
Brittle Cornea Syndrome
Hallux valgus, Gait disturbance, Abnormality of epiphysis morphology, Corneal scarring, Increased... ORPHA:90354
Opitz-Kaveggia Syndrome
Umbilical hernia, Delayed closure of the anterior fontanelle, Joint contracture of the hand, Ingu... OMIM:305450
Glass Syndrome
Talipes equinovarus, Arachnodactyly, Hyperactivity, Broad-based gait, Camptodactyly, Inguinal hernia OMIM:612313
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Talipes equinovarus, Arachnodactyly, Camptodactyly, Attention deficit hyperactivity disorder, Joi... OMIM:301039
Apparent Mineralocorticoid Excess
Failure to thrive, Decreased circulating renin level, Small for gestational age, Hypokalemia OMIM:218030
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hallux valgus, Slender long bone, Limited elbow extension, Delayed skeletal maturation, Camptodac... OMIM:613385
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Joint hypermobility, Clinodactyly, Camptodactyly OMIM:617360
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Failure to thrive, Hypokalemia, Lethargy OMIM:611590
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
Nablus Mask-Like Facial Syndrome
Tapered finger, Craniosynostosis, Joint contracture of the hand, Camptodactyly, Clinodactyly OMIM:608156
Glycogen Storage Disease Due To Aldolase A Deficiency
Hyperkalemia, Elevated creatine kinase after exercise ORPHA:57
Glutamine Deficiency, Congenital
Micromelia, Flexion contracture, Camptodactyly OMIM:610015
Basilicata-Akhtar Syndrome
Adducted thumb, Short foot, Short palm, Camptodactyly, Single transverse palmar crease OMIM:301032
Nephronophthisis 2
Hyperkalemia, Elevated circulating creatinine concentration OMIM:602088
Osteopathia Striata With Cranial Sclerosis
Fibular aplasia, Omphalocele, Flexion contracture of toe, Talipes equinovarus, Delayed closure of... OMIM:300373
Orofaciodigital Syndrome Ix
Toe syndactyly, Camptodactyly, Short tibia, Hand polydactyly OMIM:258865
Arthrogryposis And Ectodermal Dysplasia
Skeletal muscle atrophy, Abnormal dental enamel morphology, Arthrogryposis multiplex congenita, J... OMIM:601701
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Familial Glucocorticoid Deficiency
Hyperkalemia, Hyponatremia, Weight loss, Failure to thrive ORPHA:361
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome
Large hands, Joint contracture of the hand, Broad-based gait, Camptodactyly, Contracture of the p... OMIM:280000
Myhre Syndrome
2-3 toe syndactyly, Pericardial effusion, Vertebral fusion, Cone-shaped epiphysis, Hypoplastic il... OMIM:139210
Frank-Ter Haar Syndrome
Metatarsus adductus, Bilateral talipes equinovarus, Talipes equinovarus, Prominent coccyx, Bowing... OMIM:249420
Histiocytosis-Lymphadenopathy Plus Syndrome
Hallux valgus, Flexion contracture of toe, Rocker bottom foot, Camptodactyly of finger, Camptodac... OMIM:602782
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Galloway-Mowat Syndrome 3
Edema, Arachnodactyly, Hip dislocation, Oligohydramnios, Hiatus hernia, Camptodactyly OMIM:617729
Faciodigitogenital Syndrome, Autosomal Recessive
Metatarsus adductus, Broad palm, Vertebral fusion, Hyperextensible hand joints, Down-sloping shou... OMIM:227330
Lysosomal Acid Lipase Deficiency
Hyperkalemia, Hyponatremia, Cachexia, Failure to thrive, Cognitive impairment, Weight loss, Hyper... ORPHA:275761
Liddle Syndrome 3
Hypokalemia OMIM:618126
Duane Retraction Syndrome
Triphalangeal thumb, Skeletal muscle atrophy, Talipes equinovarus, Aplasia/Hypoplasia of the thum... ORPHA:233
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Failure to thrive, Hypokalemia OMIM:602722
Alg12-Cdg
Talipes equinovarus, Long fingers, Edema, Proximal placement of thumb, Polyhydramnios, Sandal gap... ORPHA:79324
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Talipes equinovarus, Cubitus valgus, Camptodactyly of finger, Delayed skeletal maturation, Short ... OMIM:143095
Acute Adrenal Insufficiency
Hyperkalemia, Hypercalcemia, Hyponatremia, Failure to thrive, Weight loss, Hyperuricemia, Increas... ORPHA:95409
Native American Myopathy
Abnormality of skeletal muscle fiber size, Skeletal muscle atrophy, Talipes equinovarus, Congenit... ORPHA:168572
Hypomagnesemia 2, Renal
Hypomagnesemia, Chondrocalcinosis, Hypokalemia OMIM:154020
Thyrotoxic Periodic Paralysis
Hyperkalemia, Episodic hypokalemia, Weight loss, Mildly elevated creatine kinase, Hypomagnesemia,... ORPHA:79102
Ethylene Glycol Poisoning
Hyperkalemia, Ataxia, Euphoria, Hypocalcemia ORPHA:31826
Adrenocortical Carcinoma
Hypokalemia, Weight loss, Irritability, Panic attack, Anxiety, Increased body weight ORPHA:1501
Cerebrofacioarticular Syndrome
Talipes equinovarus, Osteopenia, Ataxia, Syndactyly, Caudal appendage, Camptodactyly, Tracheomala... ORPHA:314679
Takenouchi-Kosaki Syndrome
Tapered finger, Proximal placement of thumb, Ataxia, Camptodactyly, Clinodactyly, Inguinal hernia... OMIM:616737
Mirage Syndrome
Hyperkalemia, Hyponatremia, Decreased body weight OMIM:617053
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss, Hypokalemia OMIM:613239
Ollier Disease
Abnormal cartilage morphology, Multiple enchondromatosis ORPHA:296
Miller-Dieker Lissencephaly Syndrome
Omphalocele, Polydactyly, Joint contracture of the hand, Polyhydramnios, Camptodactyly, Clinodact... OMIM:247200
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyperkalemia, Increased circulating renin level, Hyponatremia, Failure to thrive ORPHA:90791
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss, Hypokalemia OMIM:188580
Galloway-Mowat Syndrome 1
Dystonia, Talipes equinovarus, Hand clenching, Joint contracture of the hand, Slender finger, Ata... OMIM:251300
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypomagnesemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia OMIM:601198
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnesium concentra... OMIM:241150
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hernia of the abdominal wall, Omphalocele, Upper limb undergrowth, Epiphyseal stippling, Prominen... ORPHA:96334
Cohen-Gibson Syndrome
Gait disturbance, Hypoplastic iliac wing, Long fingers, Large hands, Osteopenia, Accelerated skel... OMIM:617561
21Q22.11Q22.12 Microdeletion Syndrome
Clinodactyly, Acromesomelia, Hyperactivity, Short proximal phalanx of the 2nd finger, Delayed ske... ORPHA:261323
Cutis Laxa, Autosomal Recessive, Type Iid
Hip dislocation, Inguinal hernia, Talipes equinovarus, Camptodactyly OMIM:617403
Aymé-Gripp Syndrome
Reduced arm span, Pericardial effusion, Rocker bottom foot, Tapered finger, Congenital diaphragma... ORPHA:1272
Familial Pseudohyperkalemia
Hyperkalemia ORPHA:90044
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Hyponatremia, Failure to thrive ORPHA:90790
Distal Tetrasomy 15Q
Craniosynostosis, Hernia, Arachnodactyly, Flexion contracture, Camptodactyly ORPHA:314588
Immunodeficiency 82 With Systemic Inflammation
Joint swelling, Osteomalacia, Arthritis, Osteomyelitis OMIM:619381
Sarcoidosis
Scarring, Facial palsy, Pleural effusion, Joint swelling, Chylothorax ORPHA:797
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear/anxiety-related behavior, Hypokalemia, Emotional lability, Abdominal obesity, Obesity OMIM:219090
Camptodactyly, Tall Stature, And Hearing Loss Syndrome
Camptodactyly of toe, Joint contracture of the hand, Broad femoral metaphyses, Arachnodactyly OMIM:610474
Cystinosis
Failure to thrive, Gait disturbance, Hypophosphatemia, Hypokalemia ORPHA:213
East Syndrome
Hypokalemia, Hypomagnesemia, Ataxia, Inability to walk, Increased circulating renin level, Diffic... ORPHA:199343
Frontometaphyseal Dysplasia 2
Decreased muscle mass, Hip contracture, Talipes equinovarus, Ulnar deviation of the hand, Short m... OMIM:617137
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Talipes equinovarus, Long fingers, Atrophic scars, Slender finger, Camptodactyly OMIM:618343
Diarrhea 1, Secretory Chloride, Congenital
Failure to thrive, Hyponatremia, Hypochloremia, Hypokalemia OMIM:214700
Liddle Syndrome
Hypokalemia ORPHA:526
Congenital Heart Defects And Skeletal Malformations Syndrome
Finger clinodactyly, Congenital diaphragmatic hernia, Arachnodactyly, Camptodactyly OMIM:617602
Addison Disease
Hyperkalemia, Hypercalcemia, Hyponatremia, Failure to thrive, Weight loss, Hyperuricemia, Increas... ORPHA:85138
Cholera
Lethargy, Hyponatremia, Hypokalemia, Irritability, Hypocalcemia, Abnormal blood ion concentration ORPHA:173
Trisomy 10P
Decreased muscle mass, Abnormal hip joint morphology, Talipes equinovarus, Flexion contracture of... ORPHA:171929
Neu-Laxova Syndrome 1
Toe syndactyly, Micromelia, Rocker bottom foot, Limb undergrowth, Calcaneovalgus deformity, Joint... OMIM:256520
X-Linked Intellectual Disability, Snyder Type
Decreased muscle mass, Osteoporosis, Arachnodactyly, Recurrent fractures, Cerebral edema, Inabili... ORPHA:3063
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypomagnesemia, Cachexia, Hypokalemia, Hypocalcemia OMIM:175500
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyperkalemia, Hyponatremia, Abnormal circulating cholesterol concentration, Failure to thrive, In... ORPHA:168558
Fanconi-Bickel Syndrome
Failure to thrive, Hypouricemia, Hypophosphatemia, Hypokalemia OMIM:227810
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyperkalemia, Hyponatremia, Abnormal circulating cholesterol concentration, Failure to thrive, In... ORPHA:289548
H Syndrome
Hallux valgus, Lipodystrophy, Hernia, Delayed skeletal maturation, Camptodactyly, Upper eyelid ed... ORPHA:168569
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise ORPHA:423
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Skeletal muscle atrophy, Tapered finger, Craniosynostosis, Small hand, Hyperactivity, Short foot,... OMIM:309590
Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability
Hypomagnesemia, Episodic hypokalemia ORPHA:564178
Teebi-Shaltout Syndrome
Metatarsus adductus, Ulnar deviation of the hand, Rocker bottom foot, Talipes equinovarus, Syndac... OMIM:272950
Marfan Syndrome
Metatarsus adductus, Decreased muscle mass, Hammertoe, Reduced subcutaneous adipose tissue, Arach... OMIM:154700
Brachycephaly, Deafness, Cataract, Microstomia, And Mental Retardation
Rocker bottom foot, Tapered finger, Camptodactyly, Finger clinodactyly, Brachydactyly OMIM:601353
Cardiofacioneurodevelopmental Syndrome
Clinodactyly of the 5th finger, Brachydactyly, Camptodactyly OMIM:619123
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Elevated circulating creatine kinase concentration, Ataxia, Hypocalcemia, Hyperphos... ORPHA:466650
Bartter Syndrome, Type 5, Antenatal, Transient
Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia OMIM:300971
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Overlapping toe, Camptodactyly ORPHA:363444
Robinow Syndrome, Autosomal Dominant 3
Omphalocele, Syndactyly, Mesomelia, Camptodactyly, Broad thumb, Short phalanx of finger, Clinodac... OMIM:616894
Gitelman Syndrome
Chondrocalcinosis, Hypokalemia, Failure to thrive, Hypomagnesemia, Ataxia, Increased circulating ... OMIM:263800
Dpagt1-Cdg
Osteoporosis, Anasarca, Arachnodactyly, Lipodystrophy, Akinesia, Ataxia, Inability to walk, Flexi... ORPHA:86309
Liddle Syndrome 2
Hypokalemia, Decreased circulating renin level OMIM:618114
Fryns Syndrome
Omphalocele, Single transverse palmar crease, Rocker bottom foot, Aplasia of the left hemidiaphra... OMIM:229850
Diabetes Insipidus, Neurohypophyseal, X-Linked
Hypokalemia OMIM:304900
Normosmic Congenital Hypogonadotropic Hypogonadism
Generalized joint laxity, Osteoporosis, Osteopenia, Delayed skeletal maturation, Camptodactyly ORPHA:432
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Metatarsus adductus, Tibial bowing, Talipes equinovarus, Macroglossia, Large hands, Abnormal femo... ORPHA:500095
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Tarsal synostosis, Rocker bottom foot, Craniosynostosis, Ulnar bowing, Joint contracture of the h... OMIM:201750
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hypokalemia, Failure to thrive, Hypochloremia, Hyperchloriduria OMIM:613090
Infantile Bartter Syndrome With Sensorineural Deafness
Hyponatremia, Hypokalemia, Small for gestational age, Failure to thrive, Hypochloremia, Hypomagne... ORPHA:89938
Hypokalemic Periodic Paralysis
Mildly elevated creatine kinase, Episodic hypokalemia ORPHA:681
Loeys-Dietz Syndrome 2
Talipes equinovarus, Postaxial polydactyly, Craniosynostosis, Osteoporosis, Joint contracture of ... OMIM:610168
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Elevated circulating creatinine concentration, Decreased body weight, Hyperphosphat... ORPHA:340
Ayme-Gripp Syndrome
Tapered finger, Camptodactyly, Delayed cranial suture closure, Brachydactyly, Radioulnar synostosis OMIM:601088
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Hyponatremia, Septic arthritis, Hypocalcemia ORPHA:544482
Schinzel-Giedion Syndrome
Tibial bowing, Macroglossia, Wormian bones, Inguinal hernia, Stiff elbow, Short 1st metacarpal, O... ORPHA:798
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Hypokalemia OMIM:134600
Apparent Mineralocorticoid Excess
Failure to thrive, Decreased circulating renin level, Hypokalemia ORPHA:320
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Tapered finger, Proximal placement of thumb, Flexion contracture, Camptodactyly, Clinodactyly, In... ORPHA:487796
Carpenter Syndrome 2
Cutaneous finger syndactyly, Talipes equinovarus, Postaxial polydactyly, Aplasia of the middle ph... OMIM:614976
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
1-2 toe syndactyly, Tapered finger, Congenital diaphragmatic hernia, Small hand, Contracture of t... OMIM:301044
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Clinodactyly, Camptodactyly ORPHA:228426
Colchicine Poisoning
Hyponatremia, Hypokalemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia, Abnormal blood ion con... ORPHA:31824
Infantile Nephropathic Cystinosis
Hypokalemia, Failure to thrive, Cognitive impairment, Hypophosphatemia, Abnormal blood ion concen... ORPHA:411629
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Athetosis, Decreased circulating renin level, Hypokalemia OMIM:615474
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hypokalemia, Hypomagnesemia, Ataxia, Dysdiadochokinesis, Increased circulating renin level OMIM:612780
Renal Tubular Acidosis Iii
Hypokalemia OMIM:267200
Bartter Syndrome, Type 1, Antenatal
Hypercalcemia, Chondrocalcinosis, Hypokalemia, Small for gestational age, Increased serum prostag... OMIM:601678
Liddle Syndrome 1
Decreased circulating renin level, Hypokalemia OMIM:177200
Loeys-Dietz Syndrome 1
Talipes equinovarus, Craniosynostosis, Arachnodactyly, Postaxial hand polydactyly, Camptodactyly,... OMIM:609192
Osteootohepatoenteric Syndrome
Failure to thrive, Weight loss, Increased serum bile acid concentration, Hypokalemia OMIM:619377
Craniosynostosis-Mental Retardation Syndrome Of Lin And Gettig
Omphalocele, Decreased palmar creases, Hand clenching, Craniosynostosis, Joint contracture of the... OMIM:218649
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hypokalemia, Failure to thrive, Hypochloremia, Hyperchloriduria OMIM:602522
Familial Hyperaldosteronism Type Ii
Hypokalemia ORPHA:404
Loeys-Dietz Syndrome 3
Hip osteoarthritis, Talipes equinovarus, Knee osteoarthritis, Craniosynostosis, Intervertebral di... OMIM:613795
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperkalemia, Hyponatremia, Failure to thrive, Hypochloremia, Weight loss ORPHA:90794
Mercury Poisoning
Dystonia, Hypokalemia ORPHA:330021
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Athetosis, Hypokalemia ORPHA:369929
Familial Hyperaldosteronism Type I
Hypokalemia ORPHA:403
Andersen Cardiodysrhythmic Periodic Paralysis
Depression, Hypokalemia OMIM:170390
Juvenile Nephropathic Cystinosis
Hypouricemia, Hyponatremia, Hypocalcemic tetany, Hypokalemia, Failure to thrive, Elevated circula... ORPHA:411634
Hepatocellular Carcinoma
Hyponatremia, Hypercalcemia, Hypokalemia, Weight loss, Hyperbilirubinemia, Emotional lability, Hy... ORPHA:88673
Familial Hyperaldosteronism Type Iii
Hypokalemia ORPHA:251274
Hyperaldosteronism, Familial, Type Iii
Decreased circulating renin level, Hypokalemia OMIM:613677
Juvenile Polyposis Syndrome
Failure to thrive, Hypokalemia, Hypoalbuminemia OMIM:174900
Lethal Kniest-Like Dysplasia
Abnormal cartilage matrix, Abnormal cartilage morphology ORPHA:2347
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Unconjugated hyperbilirubinemia, Hypokalemia, Elevated circulating creatinine conce... ORPHA:90038
Primary Fanconi Renotubular Syndrome
Hypouricemia, Hypokalemia, Weight loss, Hypophosphatemia, Hyperuricosuria, Decreased plasma carni... ORPHA:3337
Ectopic Aldosterone-Producing Tumor
Decreased circulating renin level, Hypokalemia ORPHA:231632
Renpenning Syndrome 1
Clinodactyly of the 5th finger, Camptodactyly, Joint contracture of the hand, Synostosis of the p... OMIM:309500
Bartter Syndrome, Type 2, Antenatal
Chondrocalcinosis, Hypokalemia, Small for gestational age, Increased serum prostaglandin E2, Fail... OMIM:241200
Romano-Ward Syndrome
Hypokalemia ORPHA:101016
Primary Unilateral Adrenal Hyperplasia
Decreased circulating renin level, Hypokalemia ORPHA:231580
Chromosome 1P36 Deletion Syndrome, Distal
Metatarsus adductus, Delayed closure of the anterior fontanelle, Short 5th finger, Short foot, Wi... OMIM:607872
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Decreased circulating renin level, Hypokalemia ORPHA:231625
Marburg Hemorrhagic Fever
Hyperamylasemia, Hypokalemia, Elevated circulating creatine kinase concentration, Elevated circul... ORPHA:99826
Helix Syndrome
Hypermagnesemia, Hypokalemia OMIM:617671
Bartter Syndrome, Type 3
Hyperchloriduria, Increased circulating renin level, Hypokalemia OMIM:607364
Gitelman Syndrome
Chondrocalcinosis, Hypokalemia, Failure to thrive, Gout, Hypomagnesemia, Hypocalcemia, Hypermagne... ORPHA:358
Pearson Syndrome
Hypokalemia, Small for gestational age, Hypophosphatemia, Hyperalaninemia, Hypomagnesemia, Ataxia... ORPHA:699
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Hallux valgus, Right unicoronal synostosis, Adducted thumb, Ulnar deviation of the hand, Arachnod... ORPHA:261537
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Failure to thrive, Decreased circulating renin level, Hypokalemia ORPHA:90793
Mowat-Wilson Syndrome
Hallux valgus, Adducted thumb, Ulnar deviation of the hand, Tapered finger, Genu valgum, Ataxia, ... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Hallux valgus, Right unicoronal synostosis, Adducted thumb, Ulnar deviation of the hand, Arachnod... ORPHA:261552
Vipoma
Hypercalcemia, Weight loss, Hypokalemia ORPHA:97282
Multiple Osteochondromas
Abnormality of the carpal bones, Abnormality of the knee, Femoroacetabular impingement, Arthritis... ORPHA:321
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating renin level, Hypokalemia ORPHA:90795
Rabson-Mendenhall Syndrome
Increased C-peptide level, Hypokalemia ORPHA:769
Microphthalmia, Syndromic 1
Short clavicles, Joint contracture of the hand, Radial deviation of finger, Down-sloping shoulder... OMIM:309800
Distal Renal Tubular Acidosis
Failure to thrive, Hypokalemia ORPHA:18
Immunodeficiency 87 And Autoimmunity
Elevated circulating C-reactive protein concentration, Small for gestational age, Hypertriglyceri... OMIM:619573
Proximal Renal Tubular Acidosis
Failure to thrive, Bicarbonaturia, Hypokalemia, Hyperuricosuria ORPHA:47159
Scorpion Envenomation
Increased circulating NT-proBNP concentration, Ataxia, Hypokalemia, Increased circulating creatin... ORPHA:466677
Encephalocraniocutaneous Lipomatosis
Osteochondrosis, Abnormal cartilage morphology ORPHA:2396
Leprechaunism
Failure to thrive, Increased circulating renin level, Decreased body weight, Hypokalemia ORPHA:508
Tsh-Secreting Pituitary Adenoma
Weight loss, Hypokalemia ORPHA:91347
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Decreased circulating renin level, Hypokalemia OMIM:202010
Nelson Syndrome
Hypokalemia ORPHA:199244
Generalized Glucocorticoid Resistance Syndrome
Hypokalemia ORPHA:786
Vascular Ehlers-Danlos Syndrome
Hypokalemia, Cognitive impairment, Joint dislocation, Congenital hip dislocation, Osteoarthritis ORPHA:286

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 Prg4

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 Prg4.

No publications found that use IMPC mice or data for Prg4.

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MGI Allele Allele Type Produced
Prg4tm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Prg4em1(IMPC)Ccpcz Intra-exon deletion Mice

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