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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:atrichia with papular lesions
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Accession:DOID:0060689 term browser browse the term
Definition:An alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body followed by development of papular lesions all over the body that has_material_basis_in mutations in the HR gene on chromosome 8p21.3. (DO)
Synonyms:exact_synonym: APL;   papular atrichia
 primary_id: MESH:C565924
 alt_id: OMIM:209500;   RDO:0014432
 xref: ICD10CM:L65.8;   ORDO:86819
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
atrichia with papular lesions term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hr HR, lysine demethylase and nuclear receptor corepressor ISO ClinVar Annotator: match by OMIM:209500
ClinVar Annotator: match by null
ClinVar Annotator: match by term: Atrichia with papular lesions
OMIM
ClinVar
PMID:8790387, PMID:9445480, PMID:9736769, PMID:9758627, PMID:9856480, PMID:9880231, PMID:9892925, PMID:10051399, PMID:10205263, PMID:10469319, PMID:11410842, PMID:11966690, PMID:12271294, PMID:17609203, PMID:20087431, PMID:20512917, PMID:21747609, PMID:21919222, PMID:22584530, PMID:23548463, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr15:52,241,801...52,261,276
Ensembl chr15:52,241,801...52,261,276
JBrowse link
G Odc1 ornithine decarboxylase 1 ISS OMIM:209500 MouseDO NCBI chr 6:42,852,529...42,859,142
Ensembl chr 6:42,852,683...42,859,927
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    sensory system disease 5213
      skin disease 2758
        vesiculobullous skin disease 117
          atrichia with papular lesions 2
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        sensory system disease 5213
          skin disease 2758
            hair disease 262
              hypotrichosis 127
                alopecia 93
                  atrichia with papular lesions 2
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.