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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 51
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Accession:DOID:0081214 term browser browse the term
Definition:An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the HNMT gene on chromosome 2q22. (DO)
Synonyms:exact_synonym: MRT51;   Mental Retardation, Autosomal Recessive 51
 primary_id: MIM:616739
 alt_id: DOID:9000167


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autosomal recessive intellectual developmental disorder 51 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnmt histamine N-methyltransferase ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 51 ClinVar
OMIM		 PMID:25741868 PMID:26206890 PMID:28492532 NCBI chr 3:6,591,804...6,623,821
Ensembl chr 3:6,591,463...6,624,012 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19102
    Developmental Disease 14601
      Neurodevelopmental Disorders 6949
        intellectual disability 4384
          autosomal recessive intellectual developmental disorder 293
            autosomal recessive intellectual developmental disorder 51 1
Path 2
Term Annotations click to browse term
  disease 19102
    disease of anatomical entity 18443
      nervous system disease 14336
        central nervous system disease 12608
          brain disease 11837
            disease of mental health 8428
              developmental disorder of mental health 5649
                specific developmental disorder 4605
                  intellectual disability 4384
                    autosomal recessive intellectual developmental disorder 293
                      autosomal recessive intellectual developmental disorder 51 1
paths to the root