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autosomal dominant intellectual developmental disorder 50 - 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 dominant intellectual developmental disorder 50
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Accession:DOID:0080233 term browser browse the term
Definition:An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the NAA15 gene on chromosome 4q31. (DO)
Synonyms:exact_synonym: MRD50;   autosomal dominant intellectual developmental disorder-50 with behavioral abnormalities;   autosomal dominant mental retardation 50
 broad_synonym: NAA15-related condition;   NAA15-related syndrome
 xref: MIM:617787;   MONDO:0030916

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autosomal dominant intellectual developmental disorder 50 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Naa15 N-alpha-acetyltransferase 15, NatA auxiliary subunit ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 50, WITH BEHAVIORAL ABNORMALITIES | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 50 | ClinVar Annotator: match by term: NAA15-related syndrome OMIM
ClinVar		 PMID:23665959 PMID:25363760 PMID:25741868 PMID:26785492 PMID:27824329 More... NCBI chrNW_004624777:19,599,676...19,688,447 JBrowse link
G G NAA15 N-alpha-acetyltransferase 15, NatA auxiliary subunit ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 50, WITH BEHAVIORAL ABNORMALITIES | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 50 | ClinVar Annotator: match by term: NAA15-related syndrome OMIM
ClinVar		 PMID:23665959 PMID:25363760 PMID:25741868 PMID:26785492 PMID:27824329 More... NCBI chr 7:86,266,663...86,358,340
Ensembl chr 7:86,269,166...86,355,777 		JBrowse link
G P NAA15 N-alpha-acetyltransferase 15, NatA auxiliary subunit ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 50, WITH BEHAVIORAL ABNORMALITIES | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 50 | ClinVar Annotator: match by term: NAA15-related syndrome OMIM
ClinVar		 PMID:23665959 PMID:25363760 PMID:25741868 PMID:26785492 PMID:27824329 More... NCBI chr 8:87,608,439...87,691,313
Ensembl chr 8:87,608,426...87,691,236 		JBrowse link
G S Naa15 N-alpha-acetyltransferase 15, NatA auxiliary subunit ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 50, WITH BEHAVIORAL ABNORMALITIES | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 50 | ClinVar Annotator: match by term: NAA15-related syndrome OMIM
ClinVar		 PMID:23665959 PMID:25363760 PMID:25741868 PMID:26785492 PMID:27824329 More... NCBI chrNW_004936535:8,219,764...8,301,425
Ensembl chrNW_004936535:8,217,578...8,301,497 		JBrowse link
G D NAA15 N-alpha-acetyltransferase 15, NatA auxiliary subunit ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 50, WITH BEHAVIORAL ABNORMALITIES | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 50 | ClinVar Annotator: match by term: NAA15-related syndrome OMIM
ClinVar		 PMID:23665959 PMID:25363760 PMID:25741868 PMID:26785492 PMID:27824329 More... NCBI chr19:3,307,929...3,366,189
Ensembl chr19:3,309,259...3,362,059 		JBrowse link
G B NAA15 N-alpha-acetyltransferase 15, NatA auxiliary subunit ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 50, WITH BEHAVIORAL ABNORMALITIES | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 50 | ClinVar Annotator: match by term: NAA15-related syndrome OMIM
ClinVar		 PMID:23665959 PMID:25363760 PMID:25741868 PMID:26785492 PMID:27824329 More... NCBI chr 4:131,666,703...131,755,026
Ensembl chr 4:142,975,740...143,064,311 		JBrowse link
G C Naa15 N-alpha-acetyltransferase 15, NatA auxiliary subunit ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 50, WITH BEHAVIORAL ABNORMALITIES | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 50 | ClinVar Annotator: match by term: NAA15-related syndrome OMIM
ClinVar		 PMID:23665959 PMID:25363760 PMID:25741868 PMID:26785492 PMID:27824329 More... NCBI chrNW_004955428:4,243,970...4,337,357
Ensembl chrNW_004955428:4,243,970...4,337,356 		JBrowse link
G R Naa15 N(alpha)-acetyltransferase 15, NatA auxiliary subunit ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 50, WITH BEHAVIORAL ABNORMALITIES | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 50 | ClinVar Annotator: match by term: NAA15-related syndrome OMIM
ClinVar		 PMID:23665959 PMID:25363760 PMID:25741868 PMID:26785492 PMID:27824329 More... NCBI chr 2:137,608,883...137,671,618
Ensembl chr 2:135,457,948...135,520,756 		JBrowse link
G M Naa15 N(alpha)-acetyltransferase 15, NatA auxiliary subunit ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 50, WITH BEHAVIORAL ABNORMALITIES | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 50 | ClinVar Annotator: match by term: NAA15-related syndrome OMIM
ClinVar		 PMID:23665959 PMID:25363760 PMID:25741868 PMID:26785492 PMID:27824329 More... NCBI chr 3:51,323,437...51,383,406
Ensembl chr 3:51,322,569...51,383,928 		JBrowse link
G H NAA15 N-alpha-acetyltransferase 15, NatA auxiliary subunit IAGP ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 50, WITH BEHAVIORAL ABNORMALITIES
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 50, WITH BEHAVIORAL ABNORMALITIES | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 50
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 50, WITH BEHAVIORAL ABNORMALITIES | ClinVar Annotator: match by term: NAA15-related syndrome		 ClinVar
OMIM		 PMID:23665959 PMID:25363760 PMID:25741868 PMID:26785492 PMID:27824329 More... NCBI chr 4:139,301,505...139,391,384
Ensembl chr 4:139,301,446...139,420,033 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 287666
    Developmental Disease 170543
      Neurodevelopmental Disorders 76620
        intellectual disability 45147
          autosomal dominant intellectual developmental disorder 4415
            autosomal dominant intellectual developmental disorder 50 10
Path 2
Term Annotations click to browse term
  disease 287666
    disease of anatomical entity 271341
      nervous system disease 190294
        central nervous system disease 157399
          brain disease 148217
            disease of mental health 111114
              developmental disorder of mental health 63531
                specific developmental disorder 49617
                  intellectual disability 45147
                    autosomal dominant intellectual developmental disorder 4415
                      autosomal dominant intellectual developmental disorder 50 10
paths to the root