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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 36
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Accession:DOID:0070066 term browser browse the term
Definition:An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PPP2R1A gene on chromosome 19q13.41. (DO)
Synonyms:exact_synonym: Houge-Janssen syndrome 2;   MICROCEPHALY-CORPUS CALLOSUM HYPOPLASIA-INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME;   MRD36;   PPP2R1A-RELATED CONDITION;   PPP2R1A-RELATED DISORDER;   PPP2R1A-RELATED NEURODEVELOPMENTAL DISORDER;   autosomal dominant mental retardation 36;   autosomal dominant non-syndromic intellectual disability 36
 primary_id: OMIM:616362


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autosomal dominant intellectual developmental disorder 36 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppp2r1a protein phosphatase 2 scaffold subunit A alpha ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 36 | ClinVar Annotator: match by term: Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome | ClinVar Annotator: match by term: PPP2R1A-related condition | ClinVar Annotator: match by term: PPP2R1A-related disorder		 OMIM
CTD
ClinVar		 PMID:24728327 PMID:25533962 PMID:25741868 PMID:26168268 PMID:26619011 More... NCBI chr 1:60,540,223...60,559,467
Ensembl chr 1:60,540,194...60,560,129 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21126
    Developmental Disease 18448
      Neurodevelopmental Disorders 6834
        intellectual disability 4291
          autosomal dominant intellectual developmental disorder 447
            autosomal dominant intellectual developmental disorder 36 1
Path 2
Term Annotations click to browse term
  disease 21126
    disease of anatomical entity 18216
      nervous system disease 14065
        central nervous system disease 12403
          brain disease 11639
            disease of mental health 8308
              developmental disorder of mental health 5545
                specific developmental disorder 4507
                  intellectual disability 4291
                    autosomal dominant intellectual developmental disorder 447
                      autosomal dominant intellectual developmental disorder 36 1
paths to the root