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

ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal dominant Robinow syndrome 1
go back to main search page
Accession:DOID:0060766 term browser browse the term
Definition:A Robinow syndrome characterized by autosomal dominant inheritance of dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, and renal and vertebral anomalies that has_material_basis_in heterozygous mutation in the WNT5A gene on chromosome 3p. (DO)
Synonyms:exact_synonym: DRS1
 primary_id: OMIM:180700
 alt_id: RDO:9003167
 xref: ORDO:3107
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
autosomal dominant Robinow syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dvl1 dishevelled segment polarity protein 1 JBrowse link 5 173,295,948 173,308,014 RGD:13592920
G Dvl3 dishevelled segment polarity protein 3 JBrowse link 11 84,051,177 84,068,479 RGD:13592920
G Ror2 receptor tyrosine kinase-like orphan receptor 2 JBrowse link 17 11,953,552 12,134,386 RGD:8554872
G Wnt5a Wnt family member 5A JBrowse link 16 4,469,451 4,490,271 RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    syndrome 5154
      Robinow syndrome 8
        autosomal dominant Robinow syndrome 1 4
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      musculoskeletal system disease 4271
        connective tissue disease 2763
          bone disease 2215
            bone development disease 983
              Dwarfism 308
                Robinow syndrome 8
                  autosomal dominant Robinow syndrome 1 4
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.