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
Accession: DOID:9002760
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
For additional species annotation, visit the
Alliance of Genome Resources .
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
G
Fancf
FA complementation group F
disease_progression
ISO
DNA:hypermethylation:promoter:
RGD
PMID:14647419
RGD:11049137
NCBI chr 1:101,449,120...101,452,361
Ensembl chr 1:101,450,389...101,451,923
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
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
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
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