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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 39
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Accession:DOID:0070069 term browser browse the term
Definition:An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant heterozygous mutation in the MYT1L gene on chromosome 2p25.3. (DO)
Synonyms:exact_synonym: MRD39;   autosomal dominant mental retardation 39;   autosomal dominant mental retardation 39, and obesity;   autosomal dominant non-syndromic intellectual disability 39
 narrow_synonym: CHROMOSOME 2p25.3 DELETION SYNDROME;   CHROMOSOME 2p25.3 DUPLICATION SYNDROME
 primary_id: MIM:616521
 xref: NCI:C156309


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autosomal dominant intellectual developmental disorder 39 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myt1l myelin transcription factor 1-like ISO
ISS		 OMIM:616521
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 39		 OMIM
MouseDO
ClinVar		 PMID:23033978 PMID:25232846 PMID:25741868 PMID:28492532 PMID:28859103 More... NCBI chr 6:46,164,742...46,564,234
Ensembl chr 6:46,428,150...46,561,671 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19106
    Developmental Disease 14617
      Neurodevelopmental Disorders 6959
        intellectual disability 4386
          autosomal dominant intellectual developmental disorder 456
            autosomal dominant intellectual developmental disorder 39 1
Path 2
Term Annotations click to browse term
  disease 19106
    disease of anatomical entity 18445
      nervous system disease 14349
        central nervous system disease 12613
          brain disease 11840
            disease of mental health 8437
              developmental disorder of mental health 5651
                specific developmental disorder 4611
                  intellectual disability 4386
                    autosomal dominant intellectual developmental disorder 456
                      autosomal dominant intellectual developmental disorder 39 1
paths to the root