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
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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 14823
    syndrome 4218
      SHASHI-PENA SYNDROME 1
Path 2
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  disease 14823
    Developmental Diseases 7637
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6675
        Congenital Abnormalities 3149
          Multiple Abnormalities 1275
            SHASHI-PENA 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.