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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 Ror2 receptor tyrosine kinase-like orphan receptor 2 ISO ClinVar Annotator: match by term: Blepharophimosis-ptosis-intellectual disability syndrome ClinVar PMID:18414213 PMID:25741868 PMID:25787132 NCBI chr17:11,953,552...12,134,386
Ensembl chr17:11,953,552...12,134,386
JBrowse link
G Ube3b ubiquitin protein ligase E3B ISO ClinVar Annotator: match by term: Kaufman oculocerebrofacial syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:23200864 PMID:24615390 PMID:25356970 PMID:25741868 PMID:28003368 NCBI chr12:47,946,691...47,991,973
Ensembl chr12:47,948,247...47,990,105
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    syndrome 7568
      Kaufman oculocerebrofacial syndrome 2
Path 2
Term Annotations click to browse term
  disease 16909
    Developmental Disease 10557
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8872
        genetic disease 8389
          monogenic disease 6330
            autosomal genetic disease 5485
              autosomal dominant disease 3709
                complex cortical dysplasia with other brain malformations 1163
                  Malformations of Cortical Development, Group I 1023
                    microcephaly 872
                      Kaufman oculocerebrofacial syndrome 2
paths to the root