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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 the UBE3B gene 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


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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
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:244450
ClinVar Annotator: match by term: Blepharophimosis-ptosis-intellectual disability syndrome | ClinVar Annotator: match by term: Oculocerebrofacial syndrome, Kaufman type		 CTD
OMIM
MouseDO
ClinVar		 PMID:1694631 PMID:9536098 PMID:14556252 PMID:16199547 PMID:17576681 More... NCBI chr12:42,183,756...42,230,094
Ensembl chr12:42,183,760...42,230,094 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      Kaufman oculocerebrofacial syndrome 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          monogenic disease 10421
            autosomal genetic disease 9578
              autosomal dominant disease 6311
                complex cortical dysplasia with other brain malformations 1595
                  Malformations of Cortical Development, Group I 1379
                    microcephaly 1130
                      Kaufman oculocerebrofacial syndrome 1
paths to the root