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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:Kaufman oculocerebrofacial syndrome
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Accession:DOID:0111456 term browser browse the term
Definition:A syndromic intellectual disability characterized by developmental delay, growth retardation with a small head circumference, facial dysmorphisms, and low cholesterol levels that has_material_basis_in homozygous or compund heterozygous mutation in UBE3B on chromosome 12q24.11. (DO)
Synonyms:exact_synonym: BPID syndrome;   BPIDS;   KOS;   blepharophimosis-ptosis-intellectual disability syndrome;   blepharophimosis-ptosis-mental retardation syndrome;   oculocerebrofacial syndrome, Kaufman type
 primary_id: MESH:C537013
 alt_id: OMIM:244450
 xref: GARD:3084;   ORDO:2707
For additional species annotation, visit the Alliance of Genome Resources.



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Kaufman oculocerebrofacial syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ube3b ubiquitin protein ligase E3B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Blepharophimosis-ptosis-intellectual disability syndrome | ClinVar Annotator: match by term: Oculocerebrofacial syndrome, Kaufman type
CTD
OMIM
ClinVar
PMID:1694631 PMID:14556252 PMID:23200864 PMID:23687348 PMID:24615390 More... NCBI chr12:42,183,756...42,230,094
Ensembl chr12:42,183,760...42,230,094
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18215
    syndrome 9746
      Kaufman oculocerebrofacial syndrome 1
Path 2
Term Annotations click to browse term
  disease 18215
    Developmental Disease 13067
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11805
        genetic disease 11316
          monogenic disease 8884
            autosomal genetic disease 7927
              autosomal dominant disease 5419
                complex cortical dysplasia with other brain malformations 1488
                  Malformations of Cortical Development, Group I 1339
                    microcephaly 1164
                      Kaufman oculocerebrofacial syndrome 1
paths to the root