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: Dowling-Degos disease
Accession: DOID:0060256
browse the term
Definition: A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases. (DO)
Synonyms: exact_synonym: DDD; Dowling-Degos-Kitamura disease; RPK; acropigmentatio reticularis; dark dot disease; reticular pigment anomaly of flexures
primary_id: MESH:C562924
xref: GARD:9775 ; MIM:PS179850 ; ORDO:79145
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Adam10
ADAM metallopeptidase domain 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 8:80,226,862...80,358,728
Ensembl chr 8:80,226,674...80,361,600
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Krt5
keratin 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 7:134,724,840...134,730,569
Ensembl chr 7:134,724,840...134,730,569
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Pofut1
protein O-fucosyltransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 3:162,168,855...162,195,798
Ensembl chr 3:162,168,606...162,195,018
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Poglut1
protein O-glucosyltransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr11:75,704,119...75,731,964
Ensembl chr11:75,703,833...75,733,519
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Krt5
keratin 5
ISO
ClinVar Annotator: match by term: Dowling-Degos disease 1
OMIM ClinVar
PMID:3188604 PMID:7506097 PMID:7520042 PMID:8807337 PMID:14674915 PMID:16465624 PMID:16786515 PMID:20060687 PMID:20222933 PMID:21375516 PMID:22005030 PMID:25741868 PMID:28492532 More...
NCBI chr 7:134,724,840...134,730,569
Ensembl chr 7:134,724,840...134,730,569
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Pofut1
protein O-fucosyltransferase 1
ISO
ClinVar Annotator: match by term: Dowling-Degos disease 2 | ClinVar Annotator: match by term: POFUT1-related condition
OMIM ClinVar
PMID:23684010 PMID:25157627 PMID:25229252 PMID:25741868 PMID:28492532 PMID:31566882 More...
NCBI chr 3:162,168,855...162,195,798
Ensembl chr 3:162,168,606...162,195,018
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Poglut1
protein O-glucosyltransferase 1
ISO
ClinVar Annotator: match by term: Dowling-Degos disease 4
OMIM ClinVar
PMID:20664185 PMID:21270786 PMID:21971768 PMID:24387993 PMID:25741868 PMID:27479915 PMID:27981572 PMID:28492532 PMID:30414910 More...
NCBI chr11:75,704,119...75,731,964
Ensembl chr11:75,703,833...75,733,519
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Adam10
ADAM metallopeptidase domain 10
susceptibility
ISO
ClinVar Annotator: match by term: Reticulate acropigmentation of Kitamura
ClinVar OMIM
PMID:23666529 PMID:25741868 PMID:28492532
NCBI chr 8:80,226,862...80,358,728
Ensembl chr 8:80,226,674...80,361,600
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