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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 Annotator: match by term: Rahman syndrome		 OMIM
ClinVar		 PMID:23945933 PMID:25081361 PMID:25741868 PMID:25741869 PMID:28475857 More... NCBI chr17:41,486,634...41,487,293
Ensembl chr17:41,486,560...41,487,403 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      Rahman Syndrome 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        central nervous system disease 10420
          brain disease 9782
            thalamic disease 227
              hypothalamic disease 227
                pituitary gland disease 172
                  hyperpituitarism 34
                    Gigantism 9
                      Rahman Syndrome 1
paths to the root