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Results 1 - 6 of 6 for Spondyloepiphyseal dysplasia congenital
  1. Spondyloepiphyseal dysplasia congenita 
    ... the disorder. SED congenita SED, congenital type SEDc Spondyloepiphyseal dysplasia, congenital type Genetic Testing Registry: Spondyloepiphyseal dysplasia congenita Spondyloepiphyseal ...
    https://medlineplus.gov/.../spondyloepiphyseal-dysplasia-congenita - Genetics
  2. COL2A1 gene 
    ... 1 collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital) SEDC STL1 Tests of COL2A1 PubMed COLLAGEN, TYPE ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics
  3. CHST3-related skeletal dysplasia 
    ... SED with luxations, CHST3 type SED, Omani type Spondyloepiphyseal dysplasia with congenital joint dislocations Spondyloepiphyseal dysplasia, Omani type Genetic Testing ...
    https://medlineplus.gov/.../chst3-related-skeletal-dysplasia - Genetics
  4. TRPV4 gene 
    ... include autosomal dominant brachyolmia; spondylometaphyseal dysplasia, ... 2C, congenital distal spinal muscular atrophy, which is characterized by ...
    https://medlineplus.gov/genetics/gene/trpv4 - Genetics
  5. CHST3 gene 
    ... carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations ... dysplasia, Omani type: further definition of the phenotype. Am ...
    https://medlineplus.gov/genetics/gene/chst3 - Genetics
  6. Connective Tissue Disorders (National Library of Medicine)  
    Your connective tissue supports many different parts of your body, such as your skin, eyes, and heart. It is like a "cellular glue" that gives your body parts ...
    https://medlineplus.gov/connectivetissuedisorders.html - Health Topics