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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:diphthamide deficiency syndrome 2
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Accession:DOID:0070478 term browser browse the term
Definition:A diphthamide deficiency syndrome that has_material_basis_in homozygous or compound heterozygous mutations in the DPH2 gene on chromosome 1p34.1. (DO)
Synonyms:exact_synonym: DEDSSH2;   developmental delay with short stature, dysmorphic facial features, and sparse hair 2
 primary_id: OMIM:620062
 alt_id: DOID:9007201


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diphthamide deficiency syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dph2 diphthamide biosynthesis 2 ISO ClinVar Annotator: match by term: Developmental delay with short stature, dysmorphic facial features, and sparse hair 2 ClinVar
OMIM		 PMID:25741868 PMID:27421267 PMID:32576952 NCBI chr 5:131,428,434...131,431,394
Ensembl chr 5:131,428,268...131,431,395 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21126
    Developmental Disease 18447
      bone development disease 2304
        Dwarfism 863
          diphthamide deficiency syndrome 4
            diphthamide deficiency syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 21126
    disease of anatomical entity 18213
      nervous system disease 14061
        central nervous system disease 12398
          brain disease 11634
            disease of mental health 8302
              Neurodevelopmental Disorders 6833
                Developmental Disabilities 776
                  diphthamide deficiency syndrome 4
                    diphthamide deficiency syndrome 2 1
paths to the root