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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 1
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Accession:DOID:0070477 term browser browse the term
Definition:A diphthamide deficiency syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the DPH1 gene on chromosome 17p13.3. (DO)
Synonyms:exact_synonym: DEDSSH1;   DPH1 syndrome;   Loucks-Innes syndrome;   developmental delay with short stature, dysmorphic facial features, and sparse hair 1;   developmental delay with short stature, dysmorphic features, and sparse hair
 primary_id: OMIM:616901
 alt_id: DOID:9005766


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diphthamide deficiency syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dph1 diphthamide biosynthesis 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 | ClinVar Annotator: match by term: Developmental delay with short stature, dysmorphic features, and sparse hair		 OMIM
CTD
ClinVar		 PMID:25558065 PMID:25741868 PMID:29565416 PMID:30877278 PMID:32732226 More... NCBI chr10:60,028,081...60,039,764
Ensembl chr10:60,026,048...60,039,850 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      diphthamide deficiency syndrome 1 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          brain disease 11669
            disease of mental health 8321
              Neurodevelopmental Disorders 6848
                Developmental Disabilities 775
                  diphthamide deficiency syndrome 4
                    diphthamide deficiency syndrome 1 1
paths to the root