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Term:SC phocomelia syndrome
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Accession:DOID:0050536 term browser browse the term
Definition:A syndrome 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
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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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Path 1
Term Annotations click to browse term
  disease 15992
    syndrome 6097
      SC phocomelia syndrome 1
Path 2
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  disease 15992
    Developmental Diseases 9280
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8094
        genetic disease 7612
          monogenic disease 5382
            autosomal genetic disease 4347
              autosomal recessive disease 2338
                SC phocomelia syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.