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autosomal recessive intellectual developmental disorder 69 - 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 69
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Accession:DOID:0081230 term browser browse the term
Definition:An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ZBTB11 gene on chromosome 3q12. (DO)
Synonyms:exact_synonym: MRT69;   NEDMCB;   NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES, COGNITIVE DECLINE, AND BRAIN ABNORMALITIES;   ZBTB11-RELATED CONDITION;   mental retardation, autosomal recessive 69
 alt_id: DOID:9005345
 xref: MIM:618383;   MONDO:0032715

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autosomal recessive intellectual developmental disorder 69 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Zbtb11 zinc finger and BTB domain containing 11 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 69 | ClinVar Annotator: match by term: ZBTB11-related condition OMIM
ClinVar		 PMID:7586637 PMID:25741868 PMID:29893856 PMID:35104841 PMID:38899514 NCBI chrNW_004624789:15,456,868...15,483,379
Ensembl chrNW_004624789:15,456,346...15,486,320 		JBrowse link
G G ZBTB11 zinc finger and BTB domain containing 11 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 69 | ClinVar Annotator: match by term: ZBTB11-related condition OMIM
ClinVar		 PMID:7586637 PMID:25741868 PMID:29893856 PMID:35104841 PMID:38899514 NCBI chr22:79,212,022...79,242,131
Ensembl chr22:79,212,476...79,242,476 		JBrowse link
G P ZBTB11 zinc finger and BTB domain containing 11 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 69 | ClinVar Annotator: match by term: ZBTB11-related condition OMIM
ClinVar		 PMID:7586637 PMID:25741868 PMID:29893856 PMID:35104841 PMID:38899514 NCBI chr13:157,422,024...157,460,216
Ensembl chr13:157,422,007...157,460,212 		JBrowse link
G S Zbtb11 zinc finger and BTB domain containing 11 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 69 | ClinVar Annotator: match by term: ZBTB11-related condition OMIM
ClinVar		 PMID:7586637 PMID:25741868 PMID:29893856 PMID:35104841 PMID:38899514 NCBI chrNW_004936630:1,760,015...1,788,629
Ensembl chrNW_004936630:1,759,902...1,788,765 		JBrowse link
G D ZBTB11 zinc finger and BTB domain containing 11 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 69 | ClinVar Annotator: match by term: ZBTB11-related condition OMIM
ClinVar		 PMID:7586637 PMID:25741868 PMID:29893856 PMID:35104841 PMID:38899514 NCBI chr33:7,983,192...8,015,590
Ensembl chr33:7,984,851...8,015,391 		JBrowse link
G B ZBTB11 zinc finger and BTB domain containing 11 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 69 | ClinVar Annotator: match by term: ZBTB11-related condition OMIM
ClinVar		 PMID:7586637 PMID:25741868 PMID:29893856 PMID:35104841 PMID:38899514 NCBI chr 3:98,738,205...98,765,901
Ensembl chr 3:105,417,699...105,446,959 		JBrowse link
G C Zbtb11 zinc finger and BTB domain containing 11 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 69 | ClinVar Annotator: match by term: ZBTB11-related condition OMIM
ClinVar		 PMID:7586637 PMID:25741868 PMID:29893856 PMID:35104841 PMID:38899514 NCBI chrNW_004955427:3,173,109...3,198,437
Ensembl chrNW_004955427:3,173,109...3,198,437 		JBrowse link
G R Zbtb11 zinc finger and BTB domain containing 11 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 69 | ClinVar Annotator: match by term: ZBTB11-related condition OMIM
ClinVar		 PMID:7586637 PMID:25741868 PMID:29893856 PMID:35104841 PMID:38899514 NCBI chr11:44,598,694...44,652,559
Ensembl chr11:44,616,289...44,651,050 		JBrowse link
G M Zbtb11 zinc finger and BTB domain containing 11 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 69 | ClinVar Annotator: match by term: ZBTB11-related condition OMIM
ClinVar		 PMID:7586637 PMID:25741868 PMID:29893856 PMID:35104841 PMID:38899514 NCBI chr16:55,791,820...55,829,276
Ensembl chr16:55,794,246...55,829,276 		JBrowse link
G H ZBTB11 zinc finger and BTB domain containing 11 IAGP ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 69 | ClinVar Annotator: match by term: ZBTB11-related condition OMIM
ClinVar		 PMID:7586637 PMID:25741868 PMID:29893856 PMID:35104841 PMID:38899514 NCBI chr 3:101,648,889...101,677,132
Ensembl chr 3:101,648,889...101,677,135 		JBrowse link
G H ZBTB11-AS1 ZBTB11 antisense RNA 1 IAGP ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 69 ClinVar PMID:35104841 NCBI chr 3:101,676,430...101,679,217
Ensembl chr 3:101,676,421...101,679,217 		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 69 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 69 11
paths to the root