Brachyolmia Type 2Pseudo-Morquio syndrome type 2spondyloepiphyseal dysplasia of MaroteauxSED, Maroteaux type
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
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 TRPV4 on chromosome 12q24.11.