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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


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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Simpson-Golabi-Behmel syndrome type 2		 OMIM
CTD
ClinVar		 PMID:11179005 PMID:12595504 PMID:16783569 PMID:19800048 PMID:22353940 More... NCBI chr  X:28,015,347...28,056,115
Ensembl chr  X:28,015,347...28,056,110 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      Simpson-Golabi-Behmel syndrome type 2 1
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          monogenic disease 10363
            X-linked monogenic disease 1363
              X-linked recessive disease 581
                Simpson-Golabi-Behmel syndrome type 2 1
paths to the root