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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Li-Campeau Syndrome
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Accession:DOID:9003293 term browser browse the term
Definition:An autosomal recessive syndromic neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development, dysmorphic facial features, hypothyroidism, and variable abnormalities of the cardiac and genital systems. Caused by homozygous or compound heterozygous mutation in the UBR7 gene on chromosome 19q32. (OMIM)
Synonyms:exact_synonym: LICAS
 primary_id: OMIM:619189
For additional species annotation, visit the Alliance of Genome Resources.


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Li-Campeau Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ubr7 ubiquitin protein ligase E3 component n-recognin 7 ISO ClinVar Annotator: match by term: LI-CAMPEAU SYNDROME OMIM
ClinVar
PMID:33340455 NCBI chr 6:126,636,596...126,656,513
Ensembl chr 6:126,636,491...126,656,507
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    syndrome 7656
      hypothyroidism 151
        Li-Campeau Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16937
    disease of anatomical entity 16303
      nervous system disease 11877
        central nervous system disease 10208
          brain disease 9580
            disease of mental health 6937
              developmental disorder of mental health 4277
                specific developmental disorder 3535
                  intellectual disability 3388
                    Li-Campeau Syndrome 1
paths to the root