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Results 1 - 10 of 10 for Multiple epiphyseal dysplasia type 1
  1. Multiple epiphyseal dysplasia 
    ... Registry: Epiphyseal dysplasia, multiple, 6 Genetic Testing Registry: Multiple epiphyseal dysplasia type 1 Genetic Testing Registry: Multiple epiphyseal dysplasia type 4 ...
    https://medlineplus.gov/.../condition/multiple-epiphyseal-dysplasia - Genetics
  2. COL9A1 gene 
    ... COL9A1 causes the signs and symptoms of dominant multiple epiphyseal dysplasia. More About This Health Condition MedlinePlus Genetics provides information about Stickler syndrome More About This Health Condition alpha 1 type IX collagen cartilage-specific short collagen collagen IX, ...
    https://medlineplus.gov/genetics/gene/col9a1 - Genetics
  3. COL9A3 gene 
    ... 3 collagen, type IX, alpha 3 DJ885L7.4.1 EDM3 FLJ90759 IDD Tests of COL9A3 PubMed COLLAGEN, TYPE IX, ALPHA-3; COL9A3 NCBI Gene ClinVar Briggs MD, Chapman KL. Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype ...
    https://medlineplus.gov/genetics/gene/col9a3 - Genetics
  4. Bone Diseases (National Library of Medicine)  
    Your bones help you move, give you shape and support your body. They are living tissues that rebuild constantly throughout your life. During childhood and ...
    https://medlineplus.gov/bonediseases.html - Health Topics
  5. COMP gene 
    ... This Health Condition cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple) COMP_HUMAN EDM1 EPD1 MED PSACH pseudoachondroplasia (epiphyseal ...
    https://medlineplus.gov/genetics/gene/comp - Genetics
  6. COL9A2 gene 
    ... alpha 2 collagen, type IX, alpha 2 EDM2 epiphyseal dysplasia, multiple 2 Tests of COL9A2 PubMed COLLAGEN, TYPE IX, ALPHA-2; COL9A2 INTERVERTEBRAL DISC DISEASE; IDD ...
    https://medlineplus.gov/genetics/gene/col9a2 - Genetics
  7. SLC26A2 gene 
    ... The SLC26A2 gene mutations that result in recessive multiple epiphyseal dysplasia tend to have less serious effects than mutations that cause life-threatening skeletal disorders such as achondrogenesis type 1B (described above). As a result of these ...
    https://medlineplus.gov/genetics/gene/slc26a2 - Genetics
  8. Pseudoachondroplasia 
    ... Unger S, Zankl A, Briggs MD. Pseudoachondroplasia and multiple epiphyseal dysplasia: ... Hum Mutat. 2012 Jan;33(1):144-57. doi: 10.1002/humu.21611. Epub ...
    https://medlineplus.gov/genetics/condition/pseudoachondroplasia - Genetics
  9. MATN3 gene 
    ... with the COMP protein, type II collagen, and type IX collagen, which are all important in cartilage and bone formation. At least 14 different mutations in the MATN3 gene have been shown to cause a mild form of multiple epiphyseal dysplasia. All of the mutations change one protein building ...
    https://medlineplus.gov/genetics/gene/matn3 - Genetics
  10. Achondroplasia 
    ... of bone growth that causes the most common type of dwarfism.
    https://medlineplus.gov/ency/article/001577.htm - Medical Encyclopedia