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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 N 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 NCBI chrNW_004624771:10,641,845...10,956,213
Ensembl chrNW_004624771:10,642,515...10,953,480 		JBrowse link
G 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 NCBI chr25:77,187,572...77,585,773 JBrowse link
G P 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
G S 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 NCBI chrNW_004936526:9,832,790...10,169,488
Ensembl chrNW_004936526:9,833,128...10,169,267 		JBrowse link
G D 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 NCBI chr 7:31,657,371...32,024,777
Ensembl chr 7:31,697,245...32,023,472 		JBrowse link
G B 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 NCBI chr 1:215,626,889...216,023,590 JBrowse link
G C 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 NCBI chrNW_004955406:11,358,585...11,666,102 JBrowse link
G R 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 NCBI chr13:86,454,256...86,771,437
Ensembl chr13:86,453,926...86,771,411 		JBrowse link
G M 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 NCBI chr 1:174,324,079...174,650,295
Ensembl chr 1:174,329,391...174,650,295 		JBrowse link
G H FMN2 formin 2 IAGP ClinVar Annotator: match by term: FMN2-related condition | ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 47 OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 1:240,091,883...240,475,187
Ensembl chr 1:240,014,348...240,475,187 		JBrowse link
G H LOC126806069 CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:240421073-240422272 IAGP ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 47
ClinVar Annotator: match by term: FMN2-related condition		 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:240,257,773...240,258,972 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    Developmental Disease 170851
      Neurodevelopmental Disorders 76987
        intellectual disability 45595
          autosomal recessive intellectual developmental disorder 2993
            autosomal recessive intellectual developmental disorder 47 11
Path 2
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      nervous system disease 190640
        central nervous system disease 157774
          brain disease 148547
            disease of mental health 111500
              developmental disorder of mental health 63917
                specific developmental disorder 50074
                  intellectual disability 45595
                    autosomal recessive intellectual developmental disorder 2993
                      autosomal recessive intellectual developmental disorder 47 11
paths to the root