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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:Simpson-Golabi-Behmel syndrome type 2
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Accession:DOID:0080342 term browser browse the term
Definition:A syndrome that has_material_basis_in mutation in the OFD1 gene on chromosome Xp22 and is characterized by developmental delay, macrocephaly, and respiratory problems. (DO)
Synonyms:exact_synonym: SGBS2
 primary_id: MESH:C564567
 alt_id: OMIM:300209
For additional species annotation, visit the Alliance of Genome Resources.


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Simpson-Golabi-Behmel syndrome type 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ofd1 OFD1, centriole and centriolar satellite protein ISO ClinVar Annotator: match by OMIM:300209
ClinVar Annotator: match by term: Simpson-Golabi-Behmel syndrome, type 2
OMIM
ClinVar
PMID:16783569, PMID:25741868 NCBI chr  X:29,562,165...29,602,934
Ensembl chr  X:29,562,165...29,602,925
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      Simpson-Golabi-Behmel syndrome type 2 1
Path 2
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        genetic disease 7860
          monogenic disease 5678
            X-linked monogenic disease 920
              X-linked recessive disease 276
                Simpson-Golabi-Behmel syndrome type 2 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.