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Multiple epiphyseal dysplasia (MED), also known as Fairbank's disease, is a rare genetic disorder (dominant form: 1 in 10,000 births) that affects the growing ends of bones. Long bones normally elongate by expansion of cartilage in the growth plate (epiphyseal plate) near their ends.
Autosomal recessive multiple epiphyseal dysplasia (ARMED), also called epiphyseal dysplasia, multiple, 4 (EDM4), multiple epiphyseal dysplasia with clubfoot or –with bilayered patellae, [1] is an autosomal recessive [2] congenital disorder affecting cartilage and bone development.
Early-onset diabetes mellitus with multiple epiphyseal dysplasia Radiograph of a WRS child presenting with dysplastic bone growth in various regions of the body. Wolcott–Rallison syndrome, WRS, is a rare, autosomal recessive disorder with infancy -onset diabetes mellitus , multiple epiphyseal dysplasia , osteopenia , mental retardation or ...
Metaphyseal chondrodysplasia Schmid type is a type of chondrodysplasia associated with a deficiency of collagen, type X, alpha 1. [2] [3] [4]Unlike other "rickets syndromes", affected individuals have normal serum calcium, phosphorus, and urinary amino acid levels.
1299 12841 Ensembl ENSG00000092758 ENSMUSG00000027570 UniProt Q14050 n/a RefSeq (mRNA) NM_001853 NM_009936 NM_001378777 RefSeq (protein) NP_001844 n/a Location (UCSC) Chr 20: 62.82 – 62.84 Mb Chr 2: 180.24 – 180.26 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Collagen alpha-3(IX) chain is a protein that in humans is encoded by the COL9A3 gene. Function This gene encodes one of ...
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