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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
For additional species annotation, visit the Alliance of Genome Resources.



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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 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:28492532 PMID:32891193 NCBI chr15:31,035,783...31,108,945
Ensembl chr15:31,035,838...31,109,357
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18246
    Developmental Disease 13102
      Neurodevelopmental Disorders 6220
        NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES 1
Path 2
Term Annotations click to browse term
  disease 18246
    disease of anatomical entity 17610
      nervous system disease 13264
        central nervous system disease 11415
          brain disease 10712
            disease of mental health 7590
              Neurodevelopmental Disorders 6220
                NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES 1
paths to the root