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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: BLEPHAROPHIMOSIS-PTOSIS-MENTAL RETARDATION SYNDROME;   BPID SYNDROME;   BPIDS;   KOS;   blepharophimosis-ptosis-intellectual disability 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 JBrowse Chr Start Stop Reference
G Ube3b ubiquitin protein ligase E3B JBrowse link 12 47,946,691 47,991,973 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15602
    syndrome 5231
      Kaufman oculocerebrofacial syndrome 1
Path 2
Term Annotations click to browse term
  disease 15602
    disease of anatomical entity 14933
      nervous system disease 10260
        central nervous system disease 8136
          brain disease 7608
            disease of mental health 5547
              developmental disorder of mental health 2725
                specific developmental disorder 1893
                  intellectual disability 1718
                    syndromic intellectual disability 677
                      Kaufman oculocerebrofacial syndrome 1
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