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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:Holoprosencephaly 13, X-linked
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Accession:DOID:0060954 term browser browse the term
Definition:A holoprosencephaly characterized by midline developmental defects that mainly affect the brain and craniofacial structure that has_material_basis_in heterozygous mutation in the STAG2 gene on chromosome Xq25. (DO)
Synonyms:exact_synonym: HPE13;   Holoprosencephaly 13
 broad_synonym: STAG2-RELATED CONDITION;   STAG2-related disorder
 alt_id: DOID:9008492
 xref: MIM:301043;   MONDO:0026763



show annotations for term's descendants           Sort by:
Holoprosencephaly 13, X-linked term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sh2d1a SH2 domain containing 1A ISO ClinVar Annotator: match by term: Holoprosencephaly 13, X-linked ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:121,373,693...121,401,923 JBrowse link
G Stag2 STAG2 cohesin complex component ISO ClinVar Annotator: match by term: Holoprosencephaly 13, X-linked OMIM
ClinVar
PMID:25741868 PMID:28296084 PMID:28492532 PMID:31334757 NCBI chr  X:120,974,687...121,105,677 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    syndrome 11370
      holoprosencephaly 223
        Holoprosencephaly 13, X-linked 2
Path 2
Term Annotations click to browse term
  disease 19139
    Developmental Disease 14664
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13712
        genetic disease 13378
          monogenic disease 10931
            X-linked monogenic disease 1455
              X-linked dominant disease 250
                Holoprosencephaly 13, X-linked 2
paths to the root