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

ONTOLOGY REPORT - ANNOTATIONS


Term:Anauxetic Dysplasia 2
go back to main search page
Accession:DOID:9005915 term browser browse the term
Definition:A spondyloepimetaphyseal dysplasia characterized by severe short stature of prenatal onset, very short adult height (less than 1 meter), hypodontia, midface hypoplasia, and mild intellectual disability. (OMIM)
Synonyms:exact_synonym: ANXD2
 primary_id: OMIM:617396
 alt_id: RDO:9001684
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
Anauxetic Dysplasia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G POP1 POP1 homolog, ribonuclease P/MRP subunit JBrowse link 4 38,608,536 38,656,204 RGD:7240710
RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12019
    disease of anatomical entity 11627
      endocrine system disease 4064
        Dwarfism 303
          Anauxetic Dysplasia 2 1
Path 2
Term Annotations click to browse term
  disease 12019
    disease of anatomical entity 11627
      musculoskeletal system disease 3817
        connective tissue disease 2337
          bone disease 1814
            bone development disease 984
              osteochondrodysplasia 403
                spondyloepimetaphyseal dysplasia 72
                  Anauxetic Dysplasia 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.