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DOID:0111553 - spondyloepiphyseal dysplasia Maroteaux type
Disease Ontology Definition:An osteochondrodysplasia characterized by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, platyspondyly, severe brachydactyly, and pelvic abnormalities that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11.
Synonyms: Brachyolmia Type 2, Pseudo-Morquio syndrome type 2, SED, Maroteaux type, spondyloepiphyseal dysplasia of Maroteaux,
Xenbase Genes
:
trpv4
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal dominant disease (is_a),
osteochondrodysplasia (is_a),
spondyloepiphyseal dysplasia (is_a)