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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Anauxetic Dysplasia 2
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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
For additional species annotation, visit the Alliance of Genome Resources.


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Anauxetic Dysplasia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POP1 POP1 homolog, ribonuclease P/MRP subunit ISO OMIM NCBI chr 8:94,754,028...94,796,374
Ensembl chr 8:96,944,588...96,979,328
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12842
    disease of anatomical entity 12377
      endocrine system disease 4143
        Dwarfism 470
          Anauxetic Dysplasia 46
            Anauxetic Dysplasia 2 1
Path 2
Term Annotations click to browse term
  disease 12842
    disease of anatomical entity 12377
      musculoskeletal system disease 4716
        connective tissue disease 3117
          bone disease 2532
            bone development disease 1284
              osteochondrodysplasia 426
                spondyloepimetaphyseal dysplasia 76
                  Anauxetic Dysplasia 46
                    Anauxetic Dysplasia 2 1
paths to the root