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Results 1 - 7 of 7 for Diaphyseal dysplasia
  1. Ghosal hematodiaphyseal dysplasia 
    ... not show signs and symptoms of the condition. Diaphyseal dysplasia associated with anemia GHDD Ghosal hemato-diaphyseal dysplasia Ghosal syndrome Ghosal-type hemato-diaphyseal dysplasia Genetic ...
    https://medlineplus.gov/.../ghosal-hematodiaphyseal-dysplasia - Genetics
  2. Camurati-Engelmann disease 
    ... known as reduced penetrance. Camurati-Engelmann syndrome CED Diaphyseal dysplasia Diaphyseal hyperostosis Diaphyseal osteosclerosis Engelmann disease PDD Progressive ...
    https://medlineplus.gov/.../condition/camurati-engelmann-disease - Genetics
  3. TBXAS1 gene 
    ... Daire V. A gene responsible for Ghosal hemato-diaphyseal dysplasia maps to chromosome 7q33-34. Hum Genet. 2007 ...
    https://medlineplus.gov/genetics/gene/tbxas1 - Genetics
  4. TGFB1 gene 
    ... KK, Wilcox WR. Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati-Engelmann disease): report of a four-generation ...
    https://medlineplus.gov/genetics/gene/tgfb1 - Genetics
  5. Gnathodiaphyseal dysplasia 
    ... arms and legs is abnormally hard and thick (diaphyseal sclerosis). Bowing of the long bones also occurs in this disorder.Jaw problems are common in gnathodiaphyseal dysplasia; the prefix "gnatho-" in the condition name refers ...
    https://medlineplus.gov/.../condition/gnathodiaphyseal-dysplasia - Genetics
  6. Hereditary multiple osteochondromas 
    ... and abnormal development of the hip joints (hip dysplasia) caused by osteochondromas can lead to ... aclasis Exostoses, multiple hereditary Familial exostoses Hereditary multiple ...
    https://medlineplus.gov/.../hereditary-multiple-osteochondromas - Genetics
  7. Campomelic dysplasia From the National Institutes of Health (Genetic and Rare Diseases Information Center)  
    Find symptoms and other information about Campomelic dysplasia. ... Birth Defects/Specifics ... Birth Defects ... Bone Diseases/Children ... Bone Diseases ... Genetic and Rare ...
    https://rarediseases.info.nih.gov/.../10027/campomelic-dysplasia - External Health Links