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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:keratosis follicularis
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Accession:DOID:2734 term browser browse the term
Definition:An autosomal dominantly inherited skin disorder characterized by warty malodorous papules that coalesce into plaques. It is caused by mutations in the ATP2A2 gene encoding SERCA2 protein, one of the SARCOPLASMIC RETICULUM CALCIUM-TRANSPORTING ATPASES. The condition is similar, clinically and histologically, to BENIGN FAMILIAL PEMPHIGUS, another autosomal dominant skin disorder. Both diseases have defective calcium pumps (CALCIUM-TRANSPORTING ATPASES) and unstable desmosomal adhesion junctions (DESMOSOMES) between KERATINOCYTES.
Synonyms:exact_synonym: Acantholytic Dyskeratotic Epidermal Nevus;   DAR;   Darier White Disease;   Darier disease;   Darier's Disease;   Darier-White diseases;   Dariers Disease;   acantholytic dyskeratotic epidermal nevi
 narrow_synonym: DARIER DISEASE, SEGMENTAL;   DD DARIER DISEASE, ACRAL HEMORRHAGIC TYPE
 primary_id: MESH:D007644
 alt_id: OMIM:124200
 xref: ICD10CM:E50.8;   NCI:C84665
For additional species annotation, visit the Alliance of Genome Resources.



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keratosis follicularis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anxa1 annexin A1 ISO RGD PMID:8919037 RGD:7421562 NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343
JBrowse link
G Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 ISO ClinVar Annotator: match by term: Keratosis follicularis
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
RGD
PMID:10080178 PMID:10441323 PMID:10441325 PMID:11168576 PMID:11244492 More... RGD:734619 NCBI chr12:34,072,710...34,122,142
Ensembl chr12:34,072,683...34,122,101
JBrowse link
Burnett Schwartz Berberian Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp1 LDL receptor related protein 1 ISO ClinVar Annotator: match by term: Keratosis pilaris ClinVar PMID:25741868 PMID:26142438 PMID:28381441 NCBI chr 7:63,380,325...63,461,029
Ensembl chr 7:63,380,356...63,460,910
JBrowse link
Darier Disease, Acral Hemorrhagic Type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 ISO ClinVar Annotator: match by term: Darier disease, acral hemorrhagic type ClinVar PMID:10441324 NCBI chr12:34,072,710...34,122,142
Ensembl chr12:34,072,683...34,122,101
JBrowse link
Darier Disease, Segmental term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 ISO ClinVar Annotator: match by term: Darier disease, segmental ClinVar PMID:11121153 NCBI chr12:34,072,710...34,122,142
Ensembl chr12:34,072,683...34,122,101
JBrowse link
X-linked keratosis follicularis spinulosa decalvans term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mbtps2 membrane-bound transcription factor peptidase, site 2 ISO ClinVar Annotator: match by term: Keratosis follicularis spinulosa decalvans, X-linked OMIM
ClinVar
PMID:8745901 PMID:20672378 PMID:23316014 NCBI chr  X:37,410,914...37,461,130
Ensembl chr  X:37,410,811...37,464,430
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    sensory system disease 6555
      skin disease 3762
        keratosis 144
          keratosis follicularis 4
            Burnett Schwartz Berberian Syndrome 1
            Darier Disease, Acral Hemorrhagic Type 1
            Darier Disease, Segmental 1
            Keratosis Follicularis Dwarfism Cerebral Atrophy 0
            Kyrle Disease 0
            Van Den Bosch Syndrome 0
            keratosis follicularis spinulosa decalvans + 1
Path 2
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      nervous system disease 13146
        sensory system disease 6555
          skin disease 3762
            keratosis 144
              keratosis follicularis 4
                Burnett Schwartz Berberian Syndrome 1
                Darier Disease, Acral Hemorrhagic Type 1
                Darier Disease, Segmental 1
                Keratosis Follicularis Dwarfism Cerebral Atrophy 0
                Kyrle Disease 0
                Van Den Bosch Syndrome 0
                keratosis follicularis spinulosa decalvans + 1
paths to the root