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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:0070415 term browser browse the term
Definition:A syndrome characterized by brachycephaly, trichomegaly, and developmental delay, without anemia, that has_material_basis_in heterozygous mutation in the RPS23 gene on chromosome 5q14. (DO)
Synonyms:exact_synonym: BTDD;   MCINS;   Macinnes syndrome
 primary_id: OMIM:617412
 alt_id: DOID:9003486


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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: Brachycephaly, trichomegaly, and developmental delay
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:28257692 NCBI chr13:91,071,241...91,072,851
Ensembl chr13:91,071,077...91,073,069 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18297
    syndrome 10342
      brachycephaly, trichomegaly, and developmental delay 1
Path 2
Term Annotations click to browse term
  disease 18297
    disease of anatomical entity 15629
      Skin and Connective Tissue Diseases 6948
        connective tissue disease 5396
          bone disease 3901
            bone development disease 2297
              dysostosis 578
                synostosis 377
                  craniosynostosis 319
                    brachycephaly, trichomegaly, and developmental delay 1
paths to the root