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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:Morphological and Microscopic Findings
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Accession:DOID:9002760 term browser browse the term
Definition:Morphological findings useful in differentiation and classification of results in CYTODIAGNOSIS and related techniques.
Synonyms:primary_id: MESH:D065308;   RDO:0015969


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ACANTHOCYTOSIS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO ClinVar Annotator: match by term: Acanthocytosis due to band 3 ht ClinVar PMID:1696010 PMID:2527366 PMID:8343110 PMID:28492532 NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117 		JBrowse link
adenocarcinoma in situ term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fancf FA complementation group F disease_progression ISO DNA:hypermethylation:promoter: RGD PMID:14647419 RGD:11049137 NCBI chr 1:101,449,120...101,451,936
Ensembl chr 1:101,450,389...101,451,923 		JBrowse link
bowenoid papulosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Birc2 baculoviral IAP repeat-containing 2 ISO mRNA:increased expression:perianal skin (human) RGD PMID:20346172 RGD:152998971 NCBI chr 8:4,968,856...4,989,325
Ensembl chr 8:4,968,842...4,988,732 		JBrowse link
G Birc3 baculoviral IAP repeat-containing 3 ISO mRNA:increased expression:perianal skin (human) RGD PMID:20346172 RGD:152998971 NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802 		JBrowse link
Squamous Intraepithelial Lesions of the Cervix term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxp3 forkhead box P3 severity ISO DNA:SNP::rs3761548(human) RGD PMID:31177386 RGD:38501104 NCBI chr  X:14,908,494...14,924,994
Ensembl chr  X:14,908,494...14,923,838 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21112
    Pathological Conditions, Signs and Symptoms 13291
      Morphological and Microscopic Findings 5
        ACANTHOCYTOSIS 1
        Atypical Squamous Cells of the Cervix 0
        Margins of Excision 0
        Squamous Intraepithelial Lesions + 3
        adenocarcinoma in situ 1
paths to the root