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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:neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties
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Accession:DOID:0070479 term browser browse the term
Definition:An diphthamide deficiency syndrome characterized by distinct craniofacial features, multisystem dysfunction, profound neurodevelopmental delays, and neonatal death that has_material_basis_in homozygous or compound heterozygous mutation in the DPH5 gene on chromosome 1p21.2. (DO)
Synonyms:exact_synonym: DPH5-RELATED DIPHTHAMIDE-DEFICIENCY SYNDROME;   NEDSFF
 alt_id: DOID:9008919
 xref: MIM:620070;   MONDO:0859295


show annotations for term's descendants           Sort by:
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 2:203,804,620...203,858,196
Ensembl chr 2:203,804,936...203,840,433 		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 2:206,544,800...206,607,087
Ensembl chr 2:203,859,175...203,922,132 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19143
    Developmental Disease 14670
      Neurodevelopmental Disorders 6977
        neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties 2
Path 2
Term Annotations click to browse term
  disease 19143
    disease of anatomical entity 18456
      nervous system disease 14362
        central nervous system disease 12645
          brain disease 11865
            disease of mental health 8477
              Neurodevelopmental Disorders 6977
                Developmental Disabilities 758
                  diphthamide deficiency syndrome 5
                    neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties 2
paths to the root