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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 71
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Accession:DOID:0081232 term browser browse the term
Definition:An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ALKBH8 gene on chromosome 11q22. (DO)
Synonyms:exact_synonym: MRT71;   autosomal recessive mental retardation 71
 primary_id: OMIM:618504
 alt_id: DOID:9000328
 xref: EFO:0010280


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autosomal recessive intellectual developmental disorder 71 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alkbh8 alkB homolog 8, tRNA methyltransferase ISO ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 71 OMIM
ClinVar		 PMID:25741868 PMID:25741916 PMID:28492532 PMID:31079898 PMID:33544954 NCBI chr 6:378,779...449,382
Ensembl chr 6:378,100...452,165 		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 recessive intellectual developmental disorder 289
            autosomal recessive 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 recessive intellectual developmental disorder 289
                      autosomal recessive intellectual developmental disorder 71 1
paths to the root