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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 52
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Accession:DOID:0081215 term browser browse the term
Definition:An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the LMAN2L gene on chromosome 2q11. (DO)
Synonyms:exact_synonym: INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 52;   MRT52;   Mental Retardation, Autosomal Recessive 52
 primary_id: MIM:616887
 alt_id: DOID:9005239


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autosomal recessive intellectual developmental disorder 52 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lman2l lectin, mannose-binding 2-like ISO ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 52 OMIM
ClinVar		 PMID:25741868 PMID:26566883 NCBI chr 9:38,661,709...38,685,244
Ensembl chr 9:38,661,712...38,685,337 		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 52 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 52 1
paths to the root