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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: MIM:619189
 xref: NCI:C201589


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Li-Campeau Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gon7 GON7 subunit of KEOPS complex ISO ClinVar Annotator: match by term: Li-Campeau syndrome ClinVar PMID:33340455 NCBI chr 6:121,882,565...121,898,452
Ensembl chr 6:121,885,694...121,898,643
Ensembl chr 6:121,885,694...121,898,643 		JBrowse link
G Ubr7 ubiquitin protein ligase E3 component n-recognin 7 ISO ClinVar Annotator: match by term: Li-Campeau syndrome OMIM
ClinVar		 PMID:25741868 PMID:33340455 NCBI chr 6:121,898,613...121,918,480
Ensembl chr 6:121,898,623...121,918,477 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19065
    syndrome 11171
      hypothyroidism 336
        Li-Campeau Syndrome 2
Path 2
Term Annotations click to browse term
  disease 19065
    disease of anatomical entity 18355
      nervous system disease 14221
        central nervous system disease 12556
          brain disease 11776
            disease of mental health 8368
              developmental disorder of mental health 5596
                specific developmental disorder 4595
                  intellectual disability 4375
                    Li-Campeau Syndrome 2
paths to the root