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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: EFO:0004124;   ICD10CM:E50.8;   MONDO:0007417;   NCI:C84665
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
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
ISS		 ClinVar Annotator: match by term: Keratosis follicularis
OMIM:124200
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:10080178 PMID:10441323 PMID:10441324 PMID:10441325 PMID:11168576 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 PMID:25741868 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Keratosis follicularis spinulosa decalvans, X-linked		 OMIM
CTD
ClinVar		 PMID:8745901 PMID:20672378 PMID:23316014 PMID:25741868 NCBI chr  X:37,410,914...37,461,130
Ensembl chr  X:37,410,811...37,464,430 		JBrowse link
G Yy2 YY2 transcription factor ISO ClinVar Annotator: match by term: Keratosis follicularis spinulosa decalvans, X-linked ClinVar PMID:25741868 NCBI chr  X:37,438,425...37,442,047
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 21128
    sensory system disease 6940
      skin disease 3960
        keratosis 185
          keratosis follicularis 5
            Burnett Schwartz Berberian Syndrome 1
            Darier Disease, Acral Hemorrhagic Type 1
            Darier Disease, Segmental 1
            Keratosis Follicularis, Dwarfism, and Cerebral Atrophy 0
            Kyrle Disease 0
            Van Den Bosch Syndrome 0
            keratosis follicularis spinulosa decalvans + 2
Path 2
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13331
      Signs and Symptoms 10807
        Neurologic Manifestations 10039
          sensory system disease 6940
            skin disease 3960
              Genetic Skin Diseases 1850
                keratosis follicularis 5
                  Burnett Schwartz Berberian Syndrome 1
                  Darier Disease, Acral Hemorrhagic Type 1
                  Darier Disease, Segmental 1
                  Keratosis Follicularis, Dwarfism, and Cerebral Atrophy 0
                  Kyrle Disease 0
                  Van Den Bosch Syndrome 0
                  keratosis follicularis spinulosa decalvans + 2
paths to the root