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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 14
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Accession:DOID:0081188 term browser browse the term
Definition:An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TECR gene on chromosome 19p13. (DO)
Synonyms:exact_synonym: INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 14;   MRT14;   mental retardation, autosomal recessive 14
 primary_id: OMIM:614020
 alt_id: DOID:9006531


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autosomal recessive intellectual developmental disorder 14 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tecr trans-2,3-enoyl-CoA reductase ISO ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 14
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:11590547 PMID:21212097 PMID:22981120 PMID:24220030 PMID:25741868 NCBI chr19:24,526,700...24,568,168
Ensembl chr19:24,541,615...24,568,168 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14400
      Neurodevelopmental Disorders 6845
        intellectual disability 4299
          autosomal recessive intellectual developmental disorder 293
            autosomal recessive intellectual developmental disorder 14 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        central nervous system disease 12430
          brain disease 11668
            disease of mental health 8318
              developmental disorder of mental health 5554
                specific developmental disorder 4517
                  intellectual disability 4299
                    autosomal recessive intellectual developmental disorder 293
                      autosomal recessive intellectual developmental disorder 14 1
paths to the root