ONTOLOGY REPORT - ANNOTATIONS


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;   RDO:0001623
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keratosis follicularis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Anxa1 annexin A1 JBrowse link 1 237,893,983 237,910,002 RGD:7421562
G Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 JBrowse link 12 39,553,903 39,603,326 RGD:734619
RGD:8554872
RGD:11554173
RGD:7240710
Burnett Schwartz Berberian Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrp1 LDL receptor related protein 1 JBrowse link 7 70,846,313 70,927,028 RGD:8554872
Darier Disease, Acral Hemorrhagic Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 JBrowse link 12 39,553,903 39,603,326 RGD:8554872
Darier Disease, Segmental term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 JBrowse link 12 39,553,903 39,603,326 RGD:8554872
KERATOSIS PILARIS ATROPHICANS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrp1 LDL receptor related protein 1 JBrowse link 7 70,846,313 70,927,028 RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    sensory system disease 4246
      skin disease 2253
        keratosis 125
          keratosis follicularis 3
            Burnett Schwartz Berberian Syndrome + 1
            Darier Disease, Acral Hemorrhagic Type 1
            Darier Disease, Segmental 1
            Keratosis Follicularis Dwarfism Cerebral Atrophy 0
            Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant 0
            Kyrle Disease 0
            Van Den Bosch Syndrome 0
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        sensory system disease 4246
          skin disease 2253
            keratosis 125
              keratosis follicularis 3
                Burnett Schwartz Berberian Syndrome + 1
                Darier Disease, Acral Hemorrhagic Type 1
                Darier Disease, Segmental 1
                Keratosis Follicularis Dwarfism Cerebral Atrophy 0
                Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant 0
                Kyrle Disease 0
                Van Den Bosch Syndrome 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.