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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 recessive intellectual developmental disorder 74
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Accession:DOID:0081218 term browser browse the term
Definition:An autosomal recessive intellectual developmental disorder that is characterized by intellectual impairment, macrocephaly, and dysmorphic features and that has_material_basis_in homozygous mutation in the APC2 gene on chromosome 19p13. Epilepsy with eyelid myoclonus has also been reported. (DO)
Synonyms:exact_synonym: MRT74;   autosomal recessive intellectual developmental disorder 74;   intellectual developmental disorder, autosomal recessive 74
 primary_id: OMIM:617169


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autosomal recessive intellectual developmental disorder 74 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc2 APC regulator of WNT signaling pathway 2 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 74 ClinVar
OMIM		 PMID:25741868 PMID:25753423 PMID:28492532 PMID:33161245 NCBI chr 7:9,392,336...9,414,364
Ensembl chr 7:9,392,336...9,414,310 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18448
      Neurodevelopmental Disorders 6832
        intellectual disability 4290
          autosomal recessive intellectual developmental disorder 289
            autosomal recessive intellectual developmental disorder 74 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        central nervous system disease 12399
          brain disease 11634
            disease of mental health 8301
              developmental disorder of mental health 5543
                specific developmental disorder 4505
                  intellectual disability 4290
                    autosomal recessive intellectual developmental disorder 289
                      autosomal recessive intellectual developmental disorder 74 1
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