WormMine: DiseaseOntology DOID:0060847 Leri-Weill dyschondrosteosis Disease Ontology

Name
Disease Ontology

Identifier	Name	Description
DOID:7	disease of anatomical entity	A disease that manifests in a defined anatomical structure.
DOID:4	disease	A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism.
DOID:17	musculoskeletal system disease	A disease of anatomical entity that occurs in the muscular and/or skeletal system.
DOID:0080001	bone disease	A connective tissue disease that affects the structure or development of bone or causes an impairment of normal bone function.
DOID:65	connective tissue disease	A musculoskeletal system disease that affects tissues such as skin, tendons, and cartilage.
DOID:0080006	bone development disease	A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage.
DOID:2256	osteochondrodysplasia	A bone development disease that results_in defective development of cartilage or bone.
DOID:1222	cartilage disease	A connective tissue disease that is located_in cartilage.
DOID:0060847	Leri-Weill dyschondrosteosis	An osteochondrodysplasia characterized by abnormal shortening of the forearms and lower legs, abnormal misalignment of the wrist (Madelung deformity of the wrist), and associated short stature and has_material_basis_in heterozygous defects in the pseudoautosomal genes SHOX or SHOXY or by deletion of the SHOX downstream regulatory domain.

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