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Browse result for Geroderma osteodysplastica

※ introduction

    Gerodermia osteodysplastica (GO) is a rare autosomal recessive connective tissue disorder included in the spectrum of cutis laxa syndromes. Usage of the name "Walt Disney dwarfism" is attributed to the first known case of the disorder, documented in a 1950 journal report, in which the authors described five affected members from a Swiss family as having the physical appearance of dwarves from a Walt Disney film. The terms "geroderma" or "gerodermia" can be used interchangeably with "osteodysplastica" or "osteodysplasticum", with the term "hereditaria" sometimes appearing at the end.

Reference
Wiki: Geroderma osteodysplastica



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD07776Q5T7V892344
GORAB
RAB6-interacting golgin
Homo sapiens