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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



show annotations for term's descendants           Sort by:
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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
NCBI chr 5:131,741,959...131,824,000
Ensembl chr 5:131,742,754...131,810,023
JBrowse link
BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome | ClinVar Annotator: match by term: Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome OMIM
ClinVar
PMID:12002153 PMID:25590979 PMID:25741868 PMID:28492532 PMID:31949313 More... NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      thoracic disease 2002
        breast disease 1384
          Amastia 2
            Aplasia or Hypoplasia of Breasts and/or Nipples 1 0
            Aplasia or Hypoplasia of Breasts and/or Nipples 2 1
            BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        Neurologic Manifestations 10039
          sensory system disease 6940
            skin disease 3960
              breast disease 1384
                Amastia 2
                  Aplasia or Hypoplasia of Breasts and/or Nipples 1 0
                  Aplasia or Hypoplasia of Breasts and/or Nipples 2 1
                  BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME 1
paths to the root