Li-Campeau Syndrome

Preferred Label : Li-Campeau Syndrome;

NCIt synonyms : LICAS;

NCIt definition : An autosomal recessive syndromic condition caused by mutations(s) in the UBR7 gene, encoding putative E3 ubiquitin-protein ligase UBR7. It is characterized by global developmental delay, impaired intellectual development, dysmorphic facial features, variable cardiac and urogenital system abnormalites, and hypothyroidism.;

NCI Metathesaurus CUI : CL1766498;

Details

Origin ID

C201589;

UMLS CUI

C5543068;

Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Li-campeau syndrome [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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