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RGD uses the Human Disease Ontology (DO, 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
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Blepharophimosis-ptosis-intellectual disability syndrome | ClinVar Annotator: match by term: Oculocerebrofacial syndrome, Kaufman type
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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21122
    syndrome 10725
      Kaufman oculocerebrofacial syndrome 1
Path 2
Term Annotations click to browse term
  disease 21122
    Developmental Disease 18454
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18314
        genetic disease 18258
          monogenic disease 10240
            autosomal genetic disease 9385
              autosomal dominant disease 6164
                complex cortical dysplasia with other brain malformations 1575
                  Malformations of Cortical Development, Group I 1364
                    microcephaly 1120
                      Kaufman oculocerebrofacial syndrome 1
paths to the root