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



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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 ISO 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 chr10:100,991,523...101,027,046
Ensembl chr10:100,991,573...101,027,394
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    physical disorder 3103
      congenital heart disease 1088
        Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        central nervous system disease 10420
          brain disease 9782
            disease of mental health 7070
              developmental disorder of mental health 4405
                specific developmental disorder 3664
                  intellectual disability 3475
                    Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies 1
paths to the root