amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis

Preferred Label : amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis;

Origin ID

C565960;

UMLS CUI

C1859818;

Automatic exact mappings (from CISMeF team)
- Amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis [OMIM Phenotype]
MeSH term(s) associated for indexing
- amino acid metabolism, inborn errors [MeSH Descriptor]
- dwarfism [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- muscular dystrophies [MeSH Descriptor]
- osteoporosis [MeSH Descriptor]
Record concept(s)
- amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis [OMIM Phenotype]