Preferred Label : Mucopolysaccharidosis;
NCIt definition : A group of autosomal recessive or X-linked inherited lysosomal storage disorders affecting
the metabolism of mucopolysaccharides, resulting in the accumulation of mucopolysaccharides
in the body. Signs and symptoms include organomegaly, intellectual disabilities, abnormal
skeletal development, heart disorders, hearing loss, and central nervous system deficiencies.;
Alternative definition : ACC/AHA: A group of autosomal recessive or X-linked inherited lysosomal storage disorders
affecting the metabolism of mucopolysaccharides, resulting in the accumulation of
mucopolysaccharides in the body. Signs and symptoms include organomegaly, mental developmental
delay, abnormal skeletal development, heart disorders, hearing loss, and central nervous
system deficiencies.;
Origin ID : C61259;
UMLS CUI : C0026703;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
DO Cross reference
Semantic type(s)
UMLS correspondences (same concept)
Validated automatic mappings to NTBT
concept_is_in_subset
disease_has_finding