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autosomal recessive intellectual developmental disorder 47 - Ontology Report - Rat Genome Database

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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 47
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Accession:DOID:0081211 term browser browse the term
Definition:An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the FMN2 gene on chromosome 1q43. (DO)
Synonyms:exact_synonym: FMN2-RELATED CONDITION;   INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 47;   MRT47;   Mental Retardation, Autosomal Recessive 47
 primary_id: MIM:616193
 alt_id: DOID:9008226

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autosomal recessive intellectual developmental disorder 47 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FMN2 formin 2 ISO ClinVar Annotator: match by term: FMN2-related condition | ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 47 OMIM
ClinVar		 PMID:25741868 PMID:28492532
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15438
    Developmental Disease 13499
      Neurodevelopmental Disorders 6776
        intellectual disability 4280
          autosomal recessive intellectual developmental disorder 294
            autosomal recessive intellectual developmental disorder 47 1
Path 2
Term Annotations click to browse term
  disease 15438
    disease of anatomical entity 15107
      nervous system disease 13257
        central nervous system disease 11854
          brain disease 11128
            disease of mental health 8048
              developmental disorder of mental health 5466
                specific developmental disorder 4484
                  intellectual disability 4280
                    autosomal recessive intellectual developmental disorder 294
                      autosomal recessive intellectual developmental disorder 47 1
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