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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:Mental Retardation, Autosomal Recessive 13
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Accession:DOID:9002559 term browser browse the term
Synonyms:exact_synonym: INTELLECTUAL DISABILITY-OBESITY-BRAIN MALFORMATIONS-FACIAL DYSMORPHISM SYNDROME;   Mrt13
 primary_id: MESH:C567714;   RDO:0015708
 alt_id: OMIM:613192
For additional species annotation, visit the Alliance of Genome Resources.


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Mental Retardation, Autosomal Recessive 13 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trappc9 trafficking protein particle complex subunit 9 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:613192
ClinVar Annotator: match by term: Mental retardation, autosomal recessive 13
OMIM
ClinVar
PMID:17120046 PMID:18414213 PMID:20004763 PMID:20004764 PMID:20004765 PMID:21629298 PMID:22549410 PMID:25741868 PMID:28492532 NCBI chr 7:113,986,363...114,309,090
Ensembl chr 7:113,681,793...114,305,896
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    Developmental Disease 10557
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8872
        genetic disease 8389
          monogenic disease 6330
            autosomal genetic disease 5485
              autosomal recessive disease 3224
                Mental Retardation, Autosomal Recessive 13 1
paths to the root