| umls-concept:C0026707 | skos:definition | MSH: Genetic disorder of mucopolysaccharide metabolism characterized by skeletal abnormalities, joint instability, development of cervical myelopathy, and excessive urinary keratan sulfate. There are two biochemically distinct forms, each due to a deficiency of a different enzyme.,CSP: genetic disorder of mucopolysaccharide metabolism characterized by skeletal abnormalities, joint instability, development of cervical myelopathy, and excessive urinary keratan sulfate.,NCI: A rare autosomal recessive lysosomal storage disease characterized by abnormal skeletal developments, dwarfism, heart disorders, and central nervous system deficits.,JABL: An inborn error of metabolism characterized by faulty degradation of keratan sulfate with lysosomal accumulation and mucopolysaccharidosis, keratansulfaturia. Clinical features include short trunk dwarfism, dysostosis multiplex, progressive spinal deformity, short neck, pectus carinatum, genu valgum, pes planus, and odontoid hypoplasia with varying degrees of severity. Men | lld:umls |
