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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 30
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Accession:DOID:0070060 term browser browse the term
Definition:An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the ZMYND11 gene on chromosome 10p15.3. (DO)
Synonyms:exact_synonym: MRD30;   autosomal dominant intellectual developmental disorder-30 with speech delay and behavioral abnormalities;   autosomal dominant intellectual disability 30;   autosomal dominant mental retardation 30;   autosomal dominant non-syndromic intellectual disability 30
 primary_id: OMIM:616083
 xref: GARD:13136;   MONDO:0014486


show annotations for term's descendants           Sort by:
autosomal dominant intellectual developmental disorder 30 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp2b1 ATPase plasma membrane Ca2+ transporting 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 30 ClinVar PMID:25741868 NCBI chr 7:33,735,595...33,845,226
Ensembl chr 7:33,735,871...33,843,295 		JBrowse link
G Zmynd11 zinc finger, MYND-type containing 11 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 30, WITH SPEECH DELAY AND BEHAVIORAL ABNORMALITIES | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 30		 OMIM
CTD
ClinVar		 PMID:25217958 PMID:25281490 PMID:25741868 PMID:25741899 PMID:27334371 More... NCBI chr17:60,542,669...60,631,913
Ensembl chr17:60,543,077...60,631,902 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18448
      Neurodevelopmental Disorders 6832
        intellectual disability 4290
          autosomal dominant intellectual developmental disorder 447
            autosomal dominant intellectual developmental disorder 30 2
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        central nervous system disease 12399
          brain disease 11634
            disease of mental health 8301
              developmental disorder of mental health 5543
                specific developmental disorder 4505
                  intellectual disability 4290
                    autosomal dominant intellectual developmental disorder 447
                      autosomal dominant intellectual developmental disorder 30 2
paths to the root