Czech Dysplasia (CZECHD)

Alias:

Czech Dysplasia, Metatarsal Type

Spondyloepiphyseal Dysplasia with Metatarsal Shortening

Sed with Metatarsal Shortening

Spondyloepiphyseal Dysplasia with Precocious Osteoarthritis

Pseudorheumatoid Dysplasia, Progressive, with Hypoplastic Toes

Progressive Pseudorheumatoid Dysplasia with Hypoplastic Toes

Pseudorheumatoid Dysplasia Progressive with Hypoplastic Toes

Spondyloarthropathy with Short Third and Fourth Toes

Czech Dysplasia Metatarsal Type

Dysplasia, Czech

Czechd

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Czech Dysplasia, also known as spondyloepiphyseal dysplasia with metatarsal shortening, is related to progressive pseudorheumatoid dysplasia and spondylarthropathy, and has symptoms including arthralgia and waddling gait. An important gene associated with Czech Dysplasia is COL2A1 (Collagen Type II Alpha 1 Chain). Affiliated tissues include bone, and related phenotypes are short toe and arthralgia

Related ID：

MALACARDS：CZC002

OMIM：609162

MESH：D010009