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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-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES
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Accession:DOID:9002414 term browser browse the term
Definition:This disease is an autosomal dominant disorder characterized by dysmorphic craniofacial features associated with mild developmental delay, mildly impaired intellectual development or learning difficulties, speech delay, and behavioral abnormalities.
Synonyms:exact_synonym: NECRC
 primary_id: OMIM:619522


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NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tet3 tet methylcytosine dioxygenase 3 ISO ClinVar Annotator: match by term: Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities ClinVar NCBI chr 4:115,867,412...115,964,433
Ensembl chr 4:115,871,265...115,964,193 		JBrowse link
G Zmym2 zinc finger MYM-type containing 2 ISO ClinVar Annotator: match by term: Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities OMIM
ClinVar		 PMID:25741868 PMID:28191889 PMID:28492532 PMID:32891193 PMID:33004838 NCBI chr15:31,035,835...31,108,945
Ensembl chr15:31,035,838...31,109,357 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14398
      Neurodevelopmental Disorders 6845
        NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES 2
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18248
      nervous system disease 14089
        central nervous system disease 12429
          brain disease 11667
            disease of mental health 8318
              Neurodevelopmental Disorders 6845
                NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES 2
paths to the root