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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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
 broad_synonym: ASXL2-related condition
 xref: MIM:617190;   MONDO:0014963


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Shashi-Pena Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asxl2 ASXL transcriptional regulator 2 ISO ClinVar Annotator: match by term: ASXL2-related condition | ClinVar Annotator: match by term: Shashi-Pena syndrome OMIM
ClinVar		 PMID:25741868 PMID:27693232 PMID:28492532 NCBI chr 6:26,425,017...26,514,899
Ensembl chr 6:26,425,954...26,507,477 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19145
    syndrome 11406
      Shashi-Pena Syndrome 1
Path 2
Term Annotations click to browse term
  disease 19145
    Developmental Disease 14671
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13724
        Congenital Abnormalities 7895
          Multiple Abnormalities 3848
            Shashi-Pena Syndrome 1
paths to the root