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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:Amastia
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Accession:DOID:9000865 term browser browse the term
Synonyms:exact_synonym: absent breasts and nipples;   complete absence of breasts
 related_synonym: amazia;   athelia
 primary_id: MESH:C562989
 xref: OMIM:PS113700
For additional species annotation, visit the Alliance of Genome Resources.



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Aplasia or Hypoplasia of Breasts and/or Nipples 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptprf protein tyrosine phosphatase, receptor type, F ISO ClinVar Annotator: match by term: Breasts and/or nipples, aplasia or hypoplasia of, 2 OMIM
ClinVar
NCBI chr 5:131,741,959...131,824,000
Ensembl chr 5:131,742,754...131,810,023
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17286
    disease of anatomical entity 16621
      thoracic disease 1842
        breast disease 1319
          Amastia 1
            Aplasia or Hypoplasia of Breasts and/or Nipples 1 0
            Aplasia or Hypoplasia of Breasts and/or Nipples 2 1
Path 2
Term Annotations click to browse term
  disease 17286
    disease of anatomical entity 16621
      nervous system disease 12148
        sensory system disease 5678
          skin disease 2992
            breast disease 1319
              Amastia 1
                Aplasia or Hypoplasia of Breasts and/or Nipples 1 0
                Aplasia or Hypoplasia of Breasts and/or Nipples 2 1
paths to the root