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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:Brachycephaly, Trichomegaly, and Developmental Delay
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Accession:DOID:9003486 term browser browse the term
Definition:An autosomal dominant developmental disorder characterized by dysmorphic features of the face and hands, and may be associated with intellectual disability. (OMIM)
Synonyms:exact_synonym: MCINS
 primary_id: OMIM:617412
 alt_id: RDO:9001711
For additional species annotation, visit the Alliance of Genome Resources.


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Brachycephaly, Trichomegaly, and Developmental Delay term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rps23 ribosomal protein S23 ISO ClinVar Annotator: match by term: MACINNES SYNDROME ClinVar
OMIM
PMID:28257692 NCBI chr 2:19,823,234...19,824,804
Ensembl chr 2:19,823,234...19,824,804
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    Developmental Diseases 9546
      Neurodevelopmental Disorders 4622
        intellectual disability 2167
          Brachycephaly, Trichomegaly, and Developmental Delay 1
Path 2
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      nervous system disease 10903
        central nervous system disease 9050
          brain disease 8375
            disease of mental health 6052
              developmental disorder of mental health 3165
                specific developmental disorder 2344
                  intellectual disability 2167
                    Brachycephaly, Trichomegaly, and Developmental Delay 1
paths to the root