Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:Carpenter syndrome
go back to main search page
Accession:DOID:0060234 term browser browse the term
Definition:An acrocephalosyndactylia characterized by craniosynostosis, acrocephaly, obesity, syndactyly and polydactyly. (DO)
Synonyms:exact_synonym: ACPS 2;   ACPS II;   acrocephalopolysyndactyly type 2;   acrocephalopolysyndactyly type II
 primary_id: MESH:C563187
 alt_id: RDO:9004939
 xref: GARD:6003;   NCI:C98873;   OMIM:PS201000;   ORDO:65759
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
Carpenter syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bag2 BAG cochaperone 2 JBrowse link 9 38,456,487 38,467,120 RGD:8554872
G Megf8 multiple EGF-like-domains 8 JBrowse link 1 82,184,671 82,234,045 RGD:11554173
G Rab23 RAB23, member RAS oncogene family JBrowse link 9 38,469,784 38,496,185 RGD:8554872
RGD:11554173
Carpenter Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rab23 RAB23, member RAS oncogene family JBrowse link 9 38,469,784 38,496,185 RGD:7240710
RGD:8554872
Carpenter Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Megf8 multiple EGF-like-domains 8 JBrowse link 1 82,184,671 82,234,045 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15603
    syndrome 5215
      Carpenter syndrome 3
        Carpenter Syndrome 1 1
        Carpenter Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      Skin and Connective Tissue Diseases 4236
        connective tissue disease 2790
          bone disease 2242
            bone development disease 1001
              dysostosis 307
                synostosis 203
                  syndactyly 42
                    acrocephalosyndactylia 8
                      Carpenter syndrome 3
                        Carpenter Syndrome 1 1
                        Carpenter Syndrome 2 1
paths to the root

NHLBI Logo

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