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spondylometaphyseal dysplasia, Kozlowski type

Disease Summary
Associated Targets (2)
Tchem

1

Tbio

1


GARD Rare
Mondo Description Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly.
Uniprot Description A form of spondylometaphyseal dysplasia, a group of short stature disorders distinguished by abnormalities in the vertebrae and the metaphyses of the tubular bones. It is characterized by postnatal dwarfism, significant scoliosis and mild metaphyseal abnormalities in the pelvis. The vertebrae exhibit platyspondyly and overfaced pedicles.
Mondo Term and Equivalent IDs
MONDO:0008477:  spondylometaphyseal dysplasia, Kozlowski type
DOID:0111554: 
GARD:0003047: 
MESH:C535797: 
Orphanet:93314: