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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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Path 1
Term Annotations click to browse term
  disease 15599
    syndrome 5135
      SC phocomelia syndrome 1
Path 2
Term Annotations click to browse term
  disease 15599
    Developmental Diseases 8726
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7507
        genetic disease 6997
          monogenic disease 4558
            autosomal genetic disease 3509
              autosomal recessive disease 1978
                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.