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: posterior polymorphous corneal dystrophy
Accession: DOID:0060457
browse the term
Definition: A corneal dystrophy that is characterised by changes in Descemet's membrane and endothelial layer. (DO)
Synonyms: exact_synonym: PPCD; Schlichting dystrophy; hereditary polymorphus posterior corneal dystrophy
xref: OMIM:PS122000 ; ORDO:98973
For additional species annotation, visit the
Alliance of Genome Resources .
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Vsx1
visual system homeobox 1
ISO
ClinVar Annotator: match by term: Posterior Polymorphous Corneal Dystrophy ClinVar Annotator: match by term: Polymorphous posterior corneal dystrophy
ClinVar
PMID:7795607 PMID:11978762 PMID:15623752 PMID:16303937 PMID:16384943 PMID:18216574 PMID:18626569 PMID:19763142 PMID:21976959 PMID:22171159 PMID:23592923 PMID:24033266 PMID:25741868 PMID:26879370 PMID:28492532
NCBI chr 3:146,484,235...146,494,757
Ensembl chr 3:146,484,238...146,491,837
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Ovol2
ovo-like zinc finger 2
ISO
ClinVar Annotator: match by term: POSTERIOR POLYMORPHOUS CORNEAL DYSTROPHY CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:4900143 PMID:16303937 PMID:23049806 PMID:26749309
NCBI chr 3:138,433,990...138,464,511
Ensembl chr 3:138,433,990...138,462,063
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Slc4a11
solute carrier family 4 member 11
ISO
ClinVar Annotator: match by term: Posterior polymorphous corneal dystrophy 1
ClinVar
PMID:25182519 PMID:28492532
NCBI chr 3:123,224,242...123,236,535
Ensembl chr 3:123,224,242...123,236,535
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Vsx1
visual system homeobox 1
ISO
DNA:missense mutation:cds:p.H244R (human) ClinVar Annotator: match by term: MAUMENEE CORNEAL DYSTROPHY ClinVar Annotator: match by term: Posterior polymorphous corneal dystrophy 1
ClinVar
PMID:7795607 PMID:11978762 PMID:15623752 PMID:16303937 PMID:16384943 PMID:18216574 PMID:18626569 PMID:19763142 PMID:21976959 PMID:22171159 PMID:23592923 PMID:24033266 PMID:25741868 PMID:26879370 PMID:28492532 , PMID:16384943
RGD:8657036
NCBI chr 3:146,484,235...146,494,757
Ensembl chr 3:146,484,238...146,491,837
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Col8a2
collagen type VIII alpha 2 chain
ISO
ClinVar Annotator: match by OMIM:609140
OMIM ClinVar
PMID:399801 PMID:11689488 PMID:15914606 PMID:18024822 PMID:22002996 PMID:23422828
NCBI chr 5:144,308,527...144,335,142
Ensembl chr 5:144,308,611...144,335,172
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Zeb1
zinc finger E-box binding homeobox 1
ISO
ClinVar Annotator: match by null
OMIM ClinVar
PMID:12654361 PMID:16252232
NCBI chr17:54,656,627...54,714,920
Ensembl chr17:54,658,463...54,714,914
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Grhl2
grainyhead-like transcription factor 2
ISO
ClinVar Annotator: match by term: CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 4
ClinVar OMIM
PMID:29499165
NCBI chr 7:76,058,623...76,197,360
Ensembl chr 7:76,059,386...76,197,856
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