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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
 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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asxl2 ASXL transcriptional regulator 2 ISO ClinVar Annotator: match by term: SHASHI-PENA SYNDROME
ClinVar Annotator: match by term: Shashi-Pena syndrome
ClinVar
OMIM
PMID:25741868, PMID:27693232 NCBI chr 6:27,835,346...27,919,285
Ensembl chr 6:27,887,797...27,915,563
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      SHASHI-PENA SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        Congenital Abnormalities 4759
          Multiple Abnormalities 1738
            SHASHI-PENA SYNDROME 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.