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

ONTOLOGY REPORT - ANNOTATIONS


Term:acrocephalosyndactylia
go back to main search page
Accession:DOID:12960 term browser browse the term
Definition:Congenital craniostenosis with syndactyly.
Synonyms:exact_synonym: ACS1;   Acrocephalosyndactylias;   Acrocephalosyndactylies, Type 1;   Acrocephalosyndactyly (Apert);   Acrocephalosyndactyly, Type 1;   Acrocephaly, Skull Asymmetry, and Mild Syndactyly;   Apert Crouzon Disease;   Apert Syndrome;   Craniofacial-Skeletal-Dermatologic Dysplasia;   Dysostosis Craniofacialis with Hypertelorism;   Kurczynski Casperson Syndrome;   Noack Syndrome;   Noack Syndromes;   Syndactylic Oxycephalies;   Syndactylic Oxycephaly;   Type I Acrocephalosyndactylies;   Type I Acrocephalosyndactyly;   Type II Acrocephalosyndactylies
 narrow_synonym: ACROCEPHALOSYNDACTYLY, TYPE II;   ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLY SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES;   ACS I APERT-CROUZON DISEASE;   ACS II;   VOGT CEPHALODACTYLY
 primary_id: MESH:D000168
 alt_id: OMIM:101200;   RDO:0000787
 xref: NCI:C34348
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
acrocephalosyndactylia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr1 Fibroblast growth factor receptor 1 JBrowse link 16 71,265,390 71,319,046 RGD:11567243
RGD:11567271
G Fgfr2 fibroblast growth factor receptor 2 JBrowse link 1 200,590,951 200,696,946 RGD:7240710
RGD:8554872
RGD:12801488
RGD:12801475
RGD:12801474
RGD:12801413
RGD:11554173
RGD:8547743
G Twist1 twist family bHLH transcription factor 1 JBrowse link 6 53,401,241 53,403,235 RGD:1624353
RGD:11554173
Carpenter syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bag2 Bcl2-associated athanogene 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
Greig cephalopolysyndactyly syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gli3 GLI family zinc finger 3 JBrowse link 17 52,294,942 52,569,036 RGD:7240710
RGD:8554872
RGD:12738222
RGD:12738208
RGD:12738205
RGD:12738141
RGD:11554173
Pfeiffer syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr1 Fibroblast growth factor receptor 1 JBrowse link 16 71,265,390 71,319,046 RGD:7240710
RGD:8554872
G Fgfr2 fibroblast growth factor receptor 2 JBrowse link 1 200,590,951 200,696,946 RGD:7240710
RGD:8554872
Robinow Sorauf Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Twist1 twist family bHLH transcription factor 1 JBrowse link 6 53,401,241 53,403,235 RGD:7240710
RGD:8554872
Saethre-Chotzen syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr2 fibroblast growth factor receptor 2 JBrowse link 1 200,590,951 200,696,946 RGD:8554872
RGD:7240710
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link 14 82,272,322 82,287,739 RGD:8554872
G Twist1 twist family bHLH transcription factor 1 JBrowse link 6 53,401,241 53,403,235 RGD:8554872
RGD:7240710
RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15590
    disease of anatomical entity 14919
      musculoskeletal system disease 4252
        Musculoskeletal Abnormalities 1294
          synostosis 202
            acrocephalosyndactylia 8
              Cardiocranial Syndrome 0
              Carpenter syndrome + 3
              Goodman Camptodactyly 0
              Greig cephalopolysyndactyly syndrome 1
              Maroteaux Fonfria Syndrome 0
              Pfeiffer syndrome 2
              Robinow Sorauf Syndrome 1
              Saethre-Chotzen syndrome 3
              Sakati-Nyhan syndrome 0
              Summitt Syndrome 0
              Vogt Cephalodactyly 0
Path 2
Term Annotations click to browse term
  disease 15590
    disease of anatomical entity 14919
      musculoskeletal system disease 4252
        connective tissue disease 2761
          bone disease 2210
            bone development disease 980
              dysostosis 303
                synostosis 202
                  craniosynostosis 166
                    acrocephalosyndactylia 8
                      Cardiocranial Syndrome 0
                      Carpenter syndrome + 3
                      Goodman Camptodactyly 0
                      Greig cephalopolysyndactyly syndrome 1
                      Maroteaux Fonfria Syndrome 0
                      Pfeiffer syndrome 2
                      Robinow Sorauf Syndrome 1
                      Saethre-Chotzen syndrome 3
                      Sakati-Nyhan syndrome 0
                      Summitt Syndrome 0
                      Vogt Cephalodactyly 0
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.