has material basis in germline mutation in DNAJB6 muscular dystrophy, limb-girdle, autosomal dominant autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) https://github.com/monarch-initiative/mondo/issues/4521 https://www.malacards.org/card/muscular_dystrophy_limb_girdle_autosomal_dominant_1 muscular dystrophy, limb-girdle, type 1E UMLS:C4721885 muscular dystrophy, limb-girdle, type 1D LGMD1E (Bushby and Beckmann, 2003) MESH:C566370 Autosomal dominant limb-girdle muscular dystrophy type 1D (LGMD1D) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult-onset of slowly progressive, proximal pelvic girdle weakness, with none, or only minimal, shoulder girdle involvement, and absence of cardiac and respiratory symptoms. Mild to moderate elevated creatine kinase serum levels and gait abnormalities are frequently observed. LGMD1D is caused by heterozygous missense mutations in the DNAJB6 gene at chr. 7q36.3. limb-girdle muscular dystrophy type 1D DOID:0110305 Terminology note: Autosomal dominant LGMD mapped to 7q36 has been classified as LGMD1E in OMIM, but as LGMD1D in the Human Gene Nomenclature Committee Database. In the literature there is another LGMD1D/E erroneously mapped to 6q, but we will use the acronym LGMD1D for the 7q-disease and LGMD1E for the 6q-form. LGMD1D is caused by heterozygous missense mutations in the DNAJB6 gene at chr. 7q36.3 LGMD1E MEDGEN:1648441 autosomal dominant limb-girdle muscular dystrophy caused by mutation in DNAJB6 Orphanet:34516 LGMD1D (DNAJB6) GARD:0012528 OMIM:603511 muscular dystrophy limb-girdle type 1E autosomal dominant limb-girdle muscular dystrophy type 1E DNAJB6 autosomal dominant limb-girdle muscular dystrophy LGMD1D MONDO:0021018 muscular dystrophy, limb-girdle, autosomal dominant 1