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epiphyseal dysplasia, multiple, 2

Disease Summary
Associated Targets (2)
Tbio

2


GARD Rare
Mondo Description Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A2 gene.
Uniprot Description A generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. Radiological examination of the skeleton shows delayed, irregular mineralization of the epiphyseal ossification centers and of the centers of the carpal and tarsal bones. Multiple epiphyseal dysplasia is broadly categorized into the more severe Fairbank and the milder Ribbing types. The Fairbank type is characterized by shortness of stature, short and stubby fingers, small epiphyses in several joints, including the knee, ankle, hand, and hip. The Ribbing type is confined predominantly to the hip joints and is characterized by hands that are normal and stature that is normal or near-normal.
Disease Ontology Description A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A2 gene on chromosome 1p34.
Mondo Term and Equivalent IDs
MONDO:0010844:  epiphyseal dysplasia, multiple, 2
GARD:0009791: 
MESH:C535502: 
UMLS:C1838429: