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ONTOLOGY REPORT - ANNOTATIONS


Term:SHASHI-PENA SYNDROME
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Accession:DOID:9003728 term browser browse the term
Definition:A neurodevelopmental syndrome characterized by delayed psychomotor development, variable intellectual disability, hypotonia, facial dysmorphism, and some unusual features, including enlarged head circumference, glabellar nevus flammeus, and deep palmar creases. (OMIM)
Synonyms:exact_synonym: SHAPNS
 primary_id: OMIM:617190;   RDO:9001547
For additional species annotation, visit the Alliance of Genome Resources.


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SHASHI-PENA SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Asxl2 ASXL transcriptional regulator 2 JBrowse link 6 27,835,346 27,919,285 RGD:8554872
RGD:7240710

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Path 1
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  disease 14759
    syndrome 4210
      SHASHI-PENA SYNDROME 1
Path 2
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  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        Congenital Abnormalities 3137
          Multiple Abnormalities 1267
            SHASHI-PENA SYNDROME 1
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