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.
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Slc25a16
solute carrier family 25 member 16
ISO
ClinVar Annotator: match by term: Nail disorder, nonsyndromic congenital
ClinVar
PMID:28504827
NCBI chr20:27,283,383...27,308,069
Ensembl chr20:27,254,984...27,308,069
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Fzd6
frizzled class receptor 6
ISO
ClinVar Annotator: match by term: Twenty nail dystrophy ClinVar Annotator: match by term: Nail disorder, nonsyndromic congenital, 1
ClinVar OMIM
PMID:21665003 PMID:22211385 PMID:23374899
NCBI chr 7:77,898,329...77,931,034
Ensembl chr 7:77,899,322...77,931,029
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Slc25a16
solute carrier family 25 member 16
ISO
ClinVar Annotator: match by term: Isolated nail anomaly
ClinVar
PMID:28504827
NCBI chr20:27,283,383...27,308,069
Ensembl chr20:27,254,984...27,308,069
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Plcd1
phospholipase C, delta 1
ISO
OMIM
NCBI chr 8:127,753,514...127,782,070
Ensembl chr 8:127,753,539...127,782,070
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Col7a1
collagen type VII alpha 1 chain
ISO
ClinVar Annotator: match by term: Anonychia
ClinVar
PMID:8755915 PMID:9881948 PMID:10408773 PMID:11781296 PMID:12485454 PMID:12787275 PMID:15888141 PMID:16971478 PMID:19681861 PMID:20598510 PMID:22266148 PMID:24033266 PMID:25741868 PMID:26076072 PMID:26148662 PMID:28492532
NCBI chr 8:117,694,441...117,726,844
Ensembl chr 8:117,694,605...117,726,844
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Krt17
keratin 17
ISO
ClinVar Annotator: match by term: Anonychia
ClinVar
PMID:25741868
NCBI chr10:88,158,993...88,163,712
Ensembl chr10:88,118,001...88,163,723
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Rspo4
R-spondin 4
ISO
ClinVar Annotator: match by term: Anonychia
OMIM ClinVar
PMID:4702713 PMID:17041604 PMID:17186469 PMID:17914448 PMID:18070203
NCBI chr 3:147,358,690...147,391,719
Ensembl chr 3:147,358,858...147,389,698
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Sox9
SRY-box transcription factor 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19639023
NCBI chr10:101,288,528...101,294,030
Ensembl chr10:101,288,489...101,293,379
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Col7a1
collagen type VII alpha 1 chain
ISO
ClinVar Annotator: match by term: TOENAIL DYSTROPHY, ISOLATED ClinVar Annotator: match by OMIM:607523
OMIM ClinVar
PMID:7577595 PMID:8755915 PMID:9856844 PMID:10408773 PMID:10469344 PMID:11781296 PMID:11843659 PMID:12485454 PMID:12787275 PMID:15888141 PMID:16971478 PMID:17434045 PMID:19681861 PMID:20598510 PMID:22266148 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 8:117,694,441...117,726,844
Ensembl chr 8:117,694,605...117,726,844
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Col7a1
collagen type VII alpha 1 chain
ISO
ClinVar Annotator: match by term: Onychodystrophy
ClinVar
PMID:8755915 PMID:9881948 PMID:10408773 PMID:11781296 PMID:12485454 PMID:12787275 PMID:15888141 PMID:16971478 PMID:19681861 PMID:20598510 PMID:22266148 PMID:24033266 PMID:25741868 PMID:26076072 PMID:26148662 PMID:28492532 PMID:28830826 PMID:32860008
NCBI chr 8:117,694,441...117,726,844
Ensembl chr 8:117,694,605...117,726,844
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Mfn2
mitofusin 2
ISO
ClinVar Annotator: match by term: Onychodystrophy
ClinVar
PMID:15064763 PMID:16437557 PMID:16714318 PMID:16835246 PMID:17296794 PMID:19889647 PMID:21285398 PMID:22442078 PMID:24126688 PMID:24604904 PMID:24862862 PMID:24863639 PMID:25025039 PMID:25741868 PMID:26085578 PMID:26382835 PMID:26467025 PMID:26686600 PMID:26801520 PMID:27549087 PMID:27863451 PMID:28492532 PMID:31188717
NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all