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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 pilaris atrophicans
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Accession:DOID:0080751 term browser browse the term
Definition:An ichthyosis that is characterized by perifollicular keratosis and inflammation that progresses to atrophy and scarring of the facial skin. (DO)
Synonyms:exact_synonym: KPA
 broad_synonym: LRP1-RELATED CONDITION
 primary_id: MIM:604093


show annotations for term's descendants           Sort by:
keratosis pilaris atrophicans 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 atrophicans | ClinVar Annotator: match by term: LRP1-related condition OMIM
ClinVar		 PMID:25741868 PMID:28381441 PMID:28492532 NCBI chr 7:65,265,639...65,346,196
Ensembl chr 7:65,265,639...65,346,196 		JBrowse link
atrophoderma vermiculata 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: Atrophoderma vermiculata ClinVar PMID:26142438 NCBI chr 7:65,265,639...65,346,196
Ensembl chr 7:65,265,639...65,346,196 		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:41,225,956...41,290,030
Ensembl chr  X:41,254,335...41,277,701 		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:41,253,481...41,257,103
Ensembl chr  X:41,254,335...41,277,701 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    sensory system disease 7348
      skin disease 4336
        keratosis 190
          ichthyosis 95
            keratosis pilaris atrophicans 3
              atrophoderma vermiculata 1
              keratosis follicularis spinulosa decalvans + 2
              keratosis pilaris atrophicans faciei 0
Path 2
Term Annotations click to browse term
  disease 19167
    Pathological Conditions, Signs and Symptoms 13667
      Signs and Symptoms 11198
        Neurologic Manifestations 10446
          sensory system disease 7348
            skin disease 4336
              Skin Abnormalities 1322
                ichthyosis 95
                  keratosis pilaris atrophicans 3
                    atrophoderma vermiculata 1
                    keratosis follicularis spinulosa decalvans + 2
                    keratosis pilaris atrophicans faciei 0
paths to the root