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ONTOLOGY REPORT - ANNOTATIONS


Term:SC phocomelia syndrome
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Accession:DOID:0050536 term browser browse the term
Definition:An autosomal recessive disease that is characterized by severe prenatal growth retardation resulting in malformation of the bones in the skull, face and limbs, has_material_basis_in the mutation in the ESCO2 gene. (DO)
Synonyms:exact_synonym: Sc Pseudothalidomide Syndrome;   hypomelia hypotrichosis facial hemangioma syndrome
 primary_id: OMIM:269000
 alt_id: RDO:9004399
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SC phocomelia syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Esco2 establishment of sister chromatid cohesion N-acetyltransferase 2 JBrowse link 15 42,500,929 42,519,019 RGD:7240710

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  disease 14759
    syndrome 4210
      SC phocomelia syndrome 1
Path 2
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  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        genetic disease 5913
          monogenic disease 2854
            autosomal genetic disease 2132
              autosomal recessive disease 1250
                SC phocomelia syndrome 1
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