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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:Nicolaides Baraitser Syndrome
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Accession:DOID:9003531 term browser browse the term
Status:
This term is obsolete. We suggest searching for the text of the ontology term or for a keyword rather than searching for the ontology ID. For more information, please contact us.
Synonyms:exact_synonym: NBS;   NCBRS;   SPARSE HAIR-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME;   sparse hair and mental retardation
 broad_synonym: SMARCA2-RELATED BAFOPATHY;   SMARCA2-RELATED CONDITION
 alt_id: OMIM:601358
 replaced_by: DOID:0081441

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