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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
 broad_synonym: HR-RELATED CONDITION
 primary_id: MESH:C565924
 alt_id: MIM:209500
 xref: ICD10CM:L65.8;   ORDO:86819


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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
ISS		 ClinVar Annotator: match by term: Atrichia with papular lesions | ClinVar Annotator: match by term: Papular Atrichia
CTD Direct Evidence: marker/mechanism
OMIM:209500		 OMIM
ClinVar
CTD
MouseDO		 PMID:8790387 PMID:9445480 PMID:9736769 PMID:9758627 PMID:9856480 More... NCBI chr15:45,626,835...45,646,313
Ensembl chr15:45,626,835...45,646,313 		JBrowse link
G Hrurf HR upstream open reading frame ISO ClinVar Annotator: match by term: Atrichia with papular lesions ClinVar PMID:25741868
G Odc1 ornithine decarboxylase 1 ISS OMIM:209500 MouseDO NCBI chr 6:40,329,831...40,336,444
Ensembl chr 6:40,329,964...40,336,440 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    Pathological Conditions, Signs and Symptoms 13622
      Anatomical Pathological Conditions 2866
        alopecia 95
          atrichia with papular lesions 3
Path 2
Term Annotations click to browse term
  disease 19134
    Pathological Conditions, Signs and Symptoms 13622
      Signs and Symptoms 11210
        Neurologic Manifestations 10445
          sensory system disease 7373
            skin disease 4319
              hair disease 333
                hypotrichosis 150
                  alopecia 95
                    atrichia with papular lesions 3
paths to the root