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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:DENTICI-NOVELLI NEURODEVELOPMENTAL SYNDROME
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Accession:DOID:9002634 term browser browse the term
Definition:This disease is an autosomal recessive disorder characterized by global developmental delay with impaired intellectual development apparent from infancy.
Synonyms:exact_synonym: DENNED
 primary_id: OMIM:619877


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DENTICI-NOVELLI NEURODEVELOPMENTAL SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfp526 zinc finger protein 526 ISO ClinVar Annotator: match by term: Dentici-Novelli neurodevelopmental syndrome OMIM
ClinVar		 PMID:25558065 PMID:25741868 PMID:33397746 NCBI chr 1:80,807,791...80,817,852
Ensembl chr 1:80,806,972...80,818,180 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14400
      Neurodevelopmental Disorders 6845
        DENTICI-NOVELLI NEURODEVELOPMENTAL SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        central nervous system disease 12430
          brain disease 11668
            disease of mental health 8318
              Neurodevelopmental Disorders 6845
                DENTICI-NOVELLI NEURODEVELOPMENTAL SYNDROME 1
paths to the root