lipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bones

Preferred Label : lipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bones;

Origin ID

C564283;

UMLS CUI

C1842465;

Automatic exact mappings (from CISMeF team)
- Lipodystrophy, generalized, with impaired intellectual development, deafness, short stature, and slender bones [OMIM Phenotype]
MeSH term(s) associated for indexing
- bone and bones [MeSH Descriptor]
- growth disorders [MeSH Descriptor]
- hearing loss, sensorineural [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- lipodystrophy, congenital generalized [MeSH Descriptor]
Record concept(s)
- lipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bones [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Lipodystrophy, generalized, with impaired intellectual development, deafness, short stature, and slender bones [OMIM Phenotype]
- Lipodystrophy-intellectual disability-deafness syndrome [ORDO Disease]