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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:Rahman Syndrome
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Accession:DOID:9002839 term browser browse the term
Definition:A disease characterized by mild to severe intellectual disability associated with variable somatic overgrowth manifest as increased birth length, height, weight, and/or head circumference. (OMIM)
Synonyms:exact_synonym: RMNS
 primary_id: OMIM:617537
 alt_id: RDO:9001754
For additional species annotation, visit the Alliance of Genome Resources.

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Rahman Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H1f4 H1.4 linker histone, cluster member ISO ClinVar Annotator: match by term: RAHMAN SYNDROME ClinVar
OMIM		 PMID:23945933 PMID:25081361 PMID:25741868 PMID:25741869 PMID:28475857 NCBI chr17:43,734,461...43,735,120
Ensembl chr17:43,734,461...43,735,120 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    syndrome 7057
      Rahman Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      nervous system disease 10977
        central nervous system disease 9099
          brain disease 8407
            thalamic disease 216
              hypothalamic disease 216
                pituitary gland disease 170
                  hyperpituitarism 36
                    Gigantism 11
                      Rahman Syndrome 1
paths to the root