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ONTOLOGY REPORT - ANNOTATIONS


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 JBrowse Chr Start Stop Reference
G Rps23 ribosomal protein S23 JBrowse link 2 19,823,234 19,824,804 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16021
    Developmental Diseases 9337
      Neurodevelopmental Disorders 4303
        intellectual disability 1940
          Brachycephaly, Trichomegaly, and Developmental Delay 1
Path 2
Term Annotations click to browse term
  disease 16021
    disease of anatomical entity 15274
      nervous system disease 10770
        central nervous system disease 8860
          brain disease 8147
            disease of mental health 5776
              developmental disorder of mental health 2917
                specific developmental disorder 2099
                  intellectual disability 1940
                    Brachycephaly, Trichomegaly, and Developmental Delay 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.