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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
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Accession:DOID:0070476 term browser browse the term
Definition:An inherited metabolic disorder characterized by global developmental delay, short stature, dysmorphic craniofacial features, and sparse hair that has_material_basis_in deficient diphthamidylation of the eukaryotic translation Elongation Factor 2 protein (gene: EEF2). (DO)
Synonyms:exact_synonym: DEDSSH;   craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome;   developmental delay with short stature, dysmorphic facial features, and sparse hair
 xref: OMIM:PS616901;   ORDO:459061


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diphthamide deficiency syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DPH1 diphthamide biosynthesis 1 ISO ClinVar Annotator: match by term: Developmental delay with short stature, dysmorphic facial features, and sparse hair ClinVar PMID:14744934 PMID:24895408 PMID:25558065 PMID:25741868 PMID:26220823 More... NCBI chr17:2,020,163...2,035,044
Ensembl chr17:1,908,248...1,923,094 		JBrowse link
G DPH2 diphthamide biosynthesis 2 ISO ClinVar Annotator: match by term: diphthamide-deficiency syndrome ClinVar PMID:25741868 PMID:27421267 PMID:32576952 NCBI chr 1:43,271,349...43,275,162
Ensembl chr 1:44,643,142...44,646,545 		JBrowse link
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 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
ClinVar		 PMID:25558065 PMID:25741868 PMID:29565416 PMID:30877278 PMID:32732226 More... NCBI chr17:2,020,163...2,035,044
Ensembl chr17:1,908,248...1,923,094 		JBrowse link
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 1:43,271,349...43,275,162
Ensembl chr 1:44,643,142...44,646,545 		JBrowse link
neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DPH5 diphthamide biosynthesis 5 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties OMIM
ClinVar		 PMID:25741868 PMID:35482014 NCBI chr 1:103,646,182...103,682,551
Ensembl chr 1:102,358,882...102,394,816 		JBrowse link
G SLC30A7 solute carrier family 30 member 7 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties ClinVar PMID:25741868 PMID:35482014 NCBI chr 1:103,552,661...103,636,019 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15697
    Developmental Disease 13612
      bone development disease 2303
        Dwarfism 854
          diphthamide deficiency syndrome 4
            diphthamide deficiency syndrome 1 1
            diphthamide deficiency syndrome 2 1
            neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties 2
Path 2
Term Annotations click to browse term
  disease 15697
    disease of anatomical entity 15311
      nervous system disease 13350
        central nervous system disease 11956
          brain disease 11239
            disease of mental health 8128
              Neurodevelopmental Disorders 6862
                Developmental Disabilities 780
                  diphthamide deficiency syndrome 4
                    diphthamide deficiency syndrome 1 1
                    diphthamide deficiency syndrome 2 1
                    neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties 2
paths to the root