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: porokeratosis
Accession: DOID:3805
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Definition: A heritable disorder of faulty keratinization characterized by the proliferation of abnormal clones of KERATINOCYTES and lesions showing varying atrophic patches surrounded by an elevated, keratotic border. These keratotic lesions can progress to overt cutaneous neoplasm. Several clinical variants are recognized, including porokeratosis of Mibelli, linear porokeratosis, disseminated superficial actinic porokeratosis, palmoplantar porokeratosis, and punctate porokeratosis.
Synonyms: exact_synonym: disseminated superficial actinic porokeratosis; linear porokeratosis; palmoplantar porokeratosis; punctate porokeratosis
primary_id: MESH:D017499
xref: EFO:1000757 ; GARD:10983 ; ICD10CM:L56.5 ; ICD9CM:692.75 ; NCI:C85019 ; OMIM:PS175800
For additional species annotation, visit the
Alliance of Genome Resources .
G
Mvd
mevalonate diphosphate decarboxylase
ISO
ClinVar Annotator: match by term: Linear porokeratosis
ClinVar
PMID:30942823 PMID:33005717
NCBI chr19:50,496,366...50,506,429
Ensembl chr19:50,496,367...50,507,971
G
Pmvk
phosphomevalonate kinase
ISO
ClinVar Annotator: match by term: Linear porokeratosis
ClinVar
PMID:25741868 PMID:30942823
NCBI chr 2:174,876,586...174,886,365
Ensembl chr 2:174,876,657...174,886,364
G
Rnu12-2l1
RNA, U12 small nuclear 2 like 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CDAGS syndrome
OMIM CTD ClinVar
PMID:2400728 PMID:9733036 PMID:23602181 PMID:28217872 PMID:34085356
NCBI chr 7:114,303,546...114,303,696
Ensembl chr 7:114,303,546...114,303,696
G
Pmvk
phosphomevalonate kinase
ISO
ClinVar Annotator: match by term: Porokeratosis 1, multiple types | ClinVar Annotator: match by term: Porokeratosis of Mibelli CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:25741868 PMID:26202976 PMID:30942823
NCBI chr 2:174,876,586...174,886,365
Ensembl chr 2:174,876,657...174,886,364
G
Mmab
metabolism of cobalamin associated B
ISO
ClinVar Annotator: match by term: POROKERATOSIS 3, MULTIPLE TYPES | ClinVar Annotator: match by term: Porokeratosis, disseminated superficial actinic 1
ClinVar
PMID:24033266 PMID:25741868 PMID:26202976 PMID:28492532
NCBI chr12:42,159,109...42,172,518
Ensembl chr12:42,159,089...42,172,490
G
Mvk
mevalonate kinase
ISO
ClinVar Annotator: match by term: POROKERATOSIS 3, MULTIPLE TYPES | ClinVar Annotator: match by term: Porokeratosis, disseminated superficial actinic 1 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1377680 PMID:8386351 PMID:9334262 PMID:10369261 PMID:10369262 PMID:10401001 PMID:10417275 PMID:10896296 PMID:11111075 PMID:11313768 PMID:11313769 PMID:12387810 PMID:12444096 PMID:12563048 PMID:12634869 PMID:15149516 PMID:15188372 PMID:15536479 PMID:15804303 PMID:16197847 PMID:16199547 PMID:16255052 PMID:16435210 PMID:16835861 PMID:17105862 PMID:17171314 PMID:18414213 PMID:18839211 PMID:19011501 PMID:19786432 PMID:19877056 PMID:20194276 PMID:21228398 PMID:21399979 PMID:21425920 PMID:21478439 PMID:21548022 PMID:21708801 PMID:22038276 PMID:22246419 PMID:22566169 PMID:22983302 PMID:23006543 PMID:23146290 PMID:23692791 PMID:23834120 PMID:23979089 PMID:23998246 PMID:24033266 PMID:24084495 PMID:24088041 PMID:24177804 PMID:24233262 PMID:24360083 PMID:24411001 PMID:24470648 PMID:24531851 PMID:24561416 PMID:24656624 PMID:24781643 PMID:24794831 PMID:25677409 PMID:25708585 PMID:25741868 PMID:25866490 PMID:26116953 PMID:26202976 PMID:26299986 PMID:26386126 PMID:26409462 PMID:26633545 PMID:26935981 PMID:26977311 PMID:26986117 PMID:27012807 PMID:27142780 PMID:27213830 PMID:28095071 PMID:28359055 PMID:28492532 PMID:28501347 PMID:28638818 PMID:28814775 PMID:29047407 PMID:29290516 PMID:31096039 PMID:31278138 PMID:31474985 PMID:32060250 PMID:32822427 PMID:33168400 PMID:33917151 PMID:34145613 PMID:35387795 More...
NCBI chr12:42,141,391...42,158,893
Ensembl chr12:42,141,384...42,158,882
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Sart3
spliceosome associated factor 3, U4/U6 recycling protein
ISO
ClinVar Annotator: match by term: Porokeratosis, disseminated superficial actinic 1
ClinVar
PMID:15840095 PMID:17392836
NCBI chr12:42,859,026...42,887,041
Ensembl chr12:42,859,305...42,887,038
G
Mvd
mevalonate diphosphate decarboxylase
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Porokeratosis 7, multiple types
OMIM CTD ClinVar
PMID:21161278 PMID:25741868 PMID:26202976
NCBI chr19:50,496,366...50,506,429
Ensembl chr19:50,496,367...50,507,971
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Fdps
farnesyl diphosphate synthase
ISO
ClinVar Annotator: match by term: Porokeratosis 9, multiple types CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:26202976
NCBI chr 2:174,497,402...174,507,031
Ensembl chr 2:174,486,665...174,507,776
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Slc17a9
solute carrier family 17 member 9
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Porokeratosis 8, disseminated superficial actinic type
OMIM CTD ClinVar
PMID:25180256 PMID:25741868
NCBI chr 3:167,839,246...167,857,462
Ensembl chr 3:167,839,385...167,855,985
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
disease
21112
sensory system disease
6867
skin disease
3899
keratosis
182
porokeratosis
8
Congenital Facial Linear Porokeratosis
0
Craniosynostosis, Anal Anomalies, and Porokeratosis
1
Porokeratosis 1, Multiple Types
1
Porokeratosis 2, Palmar, Plantar, and Disseminated Type
0
Porokeratosis 3, Multiple Types
3
Porokeratosis 6, Multiple Types
0
Porokeratosis 7, Multiple Types
1
Porokeratosis 9, Multiple Types
1
Porokeratosis, Disseminated Superficial Actinic, 3
0
Porokeratosis, Disseminated Superficial Actinic, 4
0
Porokeratosis, Disseminated Superficial Actinic, 8
1
Path 2
disease
21112
Pathological Conditions, Signs and Symptoms
13291
Signs and Symptoms
10731
Neurologic Manifestations
9971
sensory system disease
6867
skin disease
3899
Genetic Skin Diseases
1836
porokeratosis
8
Congenital Facial Linear Porokeratosis
0
Craniosynostosis, Anal Anomalies, and Porokeratosis
1
Porokeratosis 1, Multiple Types
1
Porokeratosis 2, Palmar, Plantar, and Disseminated Type
0
Porokeratosis 3, Multiple Types
3
Porokeratosis 6, Multiple Types
0
Porokeratosis 7, Multiple Types
1
Porokeratosis 9, Multiple Types
1
Porokeratosis, Disseminated Superficial Actinic, 3
0
Porokeratosis, Disseminated Superficial Actinic, 4
0
Porokeratosis, Disseminated Superficial Actinic, 8
1