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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:Central Centrifugal Cicatricial Alopecia
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Accession:DOID:9007442 term browser browse the term
Definition:Central centrifugal cicatricial alopecia (CCCA) is the most common type of primary scarring alopecia affecting women of African ancestry, with an estimated prevalence of 2.7 to 5.6%. It may be triggered by hair-grooming habits; however, familial occurrence has been reported. Mean age at presentation is 36 years. The first sign is often unexplained hair breakage, followed by hair thinning, primarily involving the vertex scalp and progressing centrifugally. Histopathologic examination shows varying degrees of lymphocytic inflammation, follicular degeneration, and fibrosis. (OMIM)
Synonyms:exact_synonym: CCCA
 broad_synonym: cicatricial alopecia
 primary_id: OMIM:618352
 xref: EFO:1002028

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Central Centrifugal Cicatricial Alopecia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Padi3 peptidyl arginine deiminase 3 ISO ClinVar Annotator: match by term: Central centrifugal cicatricial alopecia ClinVar PMID:30763140 NCBI chrNW_004624764:2,827,665...2,853,247
Ensembl chrNW_004624764:2,827,682...2,852,353 		JBrowse link
G G PADI3 peptidyl arginine deiminase 3 ISO ClinVar Annotator: match by term: Central centrifugal cicatricial alopecia ClinVar PMID:30763140 NCBI chr20:115,300,975...115,339,002
Ensembl chr20:115,302,123...115,338,551 		JBrowse link
G P PADI3 peptidyl arginine deiminase 3 ISO ClinVar Annotator: match by term: Central centrifugal cicatricial alopecia ClinVar PMID:30763140 NCBI chr 6:75,874,219...75,910,213
Ensembl chr 6:75,874,229...75,909,509 		JBrowse link
G S Padi3 peptidyl arginine deiminase 3 ISO ClinVar Annotator: match by term: Central centrifugal cicatricial alopecia ClinVar PMID:30763140 NCBI chrNW_004936474:4,165,597...4,191,449
Ensembl chrNW_004936474:4,165,597...4,191,449 		JBrowse link
G D PADI3 peptidyl arginine deiminase 3 ISO ClinVar Annotator: match by term: Central centrifugal cicatricial alopecia ClinVar PMID:30763140 NCBI chr 2:80,966,034...80,993,937
Ensembl chr 2:80,905,391...80,993,973 		JBrowse link
G B PADI3 peptidyl arginine deiminase 3 ISO ClinVar Annotator: match by term: Central centrifugal cicatricial alopecia ClinVar PMID:30763140 NCBI chr 1:16,193,461...16,228,942
Ensembl chr 1:17,249,084...17,283,926 		JBrowse link
G C Padi3 peptidyl arginine deiminase 3 ISO ClinVar Annotator: match by term: Central centrifugal cicatricial alopecia ClinVar PMID:30763140 NCBI chrNW_004955527:1,582,065...1,608,455
Ensembl chrNW_004955527:1,582,025...1,608,465 		JBrowse link
G R Padi3 peptidyl arginine deiminase 3 ISO ClinVar Annotator: match by term: Central centrifugal cicatricial alopecia ClinVar PMID:30763140 NCBI chr 5:153,089,717...153,117,146
Ensembl chr 5:153,089,717...153,117,146 		JBrowse link
G M Padi3 peptidyl arginine deiminase, type III ISO ClinVar Annotator: match by term: Central centrifugal cicatricial alopecia ClinVar PMID:30763140 NCBI chr 4:140,512,680...140,537,959
Ensembl chr 4:140,512,676...140,537,959 		JBrowse link
G H PADI3 peptidyl arginine deiminase 3 IAGP ClinVar Annotator: match by term: Central centrifugal cicatricial alopecia ClinVar PMID:30763140 NCBI chr 1:17,249,098...17,284,233
Ensembl chr 1:17,249,098...17,284,233 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 199759
    Pathological Conditions, Signs and Symptoms 128103
      Anatomical Pathological Conditions 25185
        alopecia 874
          Central Centrifugal Cicatricial Alopecia 10
Path 2
Term Annotations click to browse term
  disease 199759
    disease of anatomical entity 167983
      nervous system disease 142629
        Neurologic Manifestations 99949
          sensory system disease 68223
            skin disease 38143
              hair disease 3187
                hypotrichosis 1385
                  alopecia 874
                    Central Centrifugal Cicatricial Alopecia 10
paths to the root