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 7 73,270,403 73,298,209 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15553
    disease of anatomical entity 14837
      endocrine system disease 4808
        Dwarfism 312
          Anauxetic Dysplasia 2 1
Path 2
Term Annotations click to browse term
  disease 15553
    disease of anatomical entity 14837
      musculoskeletal system disease 4326
        connective tissue disease 2797
          bone disease 2248
            bone development disease 1009
              osteochondrodysplasia 414
                spondyloepimetaphyseal dysplasia 73
                  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.