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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 compound heterozygous mutation in the UBE3B gene on chromosome 12q24.11. (DO)
Synonyms:exact_synonym: BPID syndrome;   BPIDS;   KOS;   UBE3B-RELATED CONDITION;   blepharophimosis-ptosis-intellectual disability syndrome;   blepharophimosis-ptosis-mental retardation syndrome;   oculocerebrofacial syndrome, Kaufman type
 primary_id: MESH:C537013
 alt_id: MIM: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 Serpina1 serpin family A member 1 ISO ClinVar Annotator: match by term: Blepharophimosis-ptosis-intellectual disability syndrome ClinVar PMID:2035534 PMID:2696185 PMID:8912354 PMID:22078084 PMID:24033266 More... NCBI chr 6:128,631,101...128,653,125
Ensembl chr 6:122,866,312...122,888,339 		JBrowse link
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 | ClinVar Annotator: match by term: UBE3B-related condition		 CTD
OMIM
MouseDO
ClinVar		 PMID:1694631 PMID:9536098 PMID:14556252 PMID:16199547 PMID:17576681 More... NCBI chr12:47,844,368...47,890,702
Ensembl chr12:42,183,760...42,230,094 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    syndrome 11397
      Kaufman oculocerebrofacial syndrome 2
Path 2
Term Annotations click to browse term
  disease 19134
    Developmental Disease 14665
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13712
        genetic disease 13378
          monogenic disease 10946
            autosomal genetic disease 10433
              autosomal dominant disease 6775
                complex cortical dysplasia with other brain malformations 1646
                  Malformations of Cortical Development, Group I 1401
                    microcephaly 1147
                      Kaufman oculocerebrofacial syndrome 2
paths to the root