spondylometaphyseal dysplasia, Schmidt typespondylometaphyseal dysplasia with severe genu valgum
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A spondylometaphyseal dysplasia characterized by dwarfism, genu valgum deformity, progressive kypho-scoliosis, wrist deformity, myopia and severe metaphyseal dysplasia, with moderate spinal changes and minimal changes in the hands and feet.