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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:Autosomal Dominant Intellectual Developmental Disorder 71
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Accession:DOID:9004011 term browser browse the term
Definition:A neurodevelopmental disorder characterized by global developmental delay with hypotonia, speech delay, and variably impaired cognitive development, caused by heterozygous mutation in the RFX7 gene on chromosome 15q21.
Synonyms:exact_synonym: Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities;   MRD71
 primary_id: OMIM:620330


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Autosomal Dominant Intellectual Developmental Disorder 71 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rfx7 regulatory factor X, 7 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities OMIM
ClinVar		 PMID:25741868 PMID:33584783 PMID:33658631 PMID:36334883 NCBI chr 8:73,254,051...73,339,209
Ensembl chr 8:73,254,051...73,339,209 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Neurodevelopmental Disorders 6831
        intellectual disability 4289
          autosomal dominant intellectual developmental disorder 447
            Autosomal Dominant Intellectual Developmental Disorder 71 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        central nervous system disease 12398
          brain disease 11633
            disease of mental health 8300
              developmental disorder of mental health 5542
                specific developmental disorder 4504
                  intellectual disability 4289
                    autosomal dominant intellectual developmental disorder 447
                      Autosomal Dominant Intellectual Developmental Disorder 71 1
paths to the root