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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:Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies
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Accession:DOID:9001399 term browser browse the term
Synonyms:exact_synonym: IDDCDF;   TMEM94-RELATED CONDITION
 primary_id: OMIM:618316



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Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMEM94 transmembrane protein 94 IAGP ClinVar Annotator: match by term: Intellectual developmental disorder with cardiac defects and dysmorphic facies
ClinVar Annotator: match by term: TMEM94-related condition
OMIM
ClinVar
PMID:25741868 PMID:28097321 PMID:30526868 PMID:32825426 NCBI chr17:75,456,635...75,500,452
Ensembl chr17:75,441,159...75,500,452
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 40760
    physical disorder 7094
      congenital heart disease 1890
        Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies 1
Path 2
Term Annotations click to browse term
  disease 40760
    disease of anatomical entity 32068
      nervous system disease 25939
        central nervous system disease 23176
          brain disease 21615
            disease of mental health 16947
              developmental disorder of mental health 11781
                specific developmental disorder 7168
                  intellectual disability 6934
                    Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies 1
paths to the root