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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:Autosomal Recessive Woolly Hair
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Accession:DOID:9001083 term browser browse the term
Synonyms:related_synonym: autosomal recessive woolly hair 1, with or without hypotrichosis
 primary_id: MESH:C564735
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
Autosomal Recessive Woolly Hair term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt25 keratin 25 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:84,267,600...84,276,312
Ensembl chr10:84,267,399...84,274,965
JBrowse link
G Lpar6 lysophosphatidic acid receptor 6 ISO ClinVar Annotator: match by term: Autosomal recessive woolly hair
ClinVar Annotator: match by term: WOOLLY HAIR, AUTOSOMAL RECESSIVE 1, WITH OR WITHOUT HYPOTRICHOSIS
ClinVar PMID:18297072 PMID:18461368 PMID:21426374 NCBI chr15:48,416,548...48,418,357
Ensembl chr15:48,416,544...48,422,331
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: WOOLLY HAIR, AUTOSOMAL RECESSIVE 1, WITH OR WITHOUT HYPOTRICHOSIS ClinVar PMID:18297072 PMID:21426374 NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
JBrowse link
autosomal recessive woolly hair 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt25 keratin 25 ISO ClinVar Annotator: match by term: Autosomal Recessive Hypotrichosis with Woolly Hair
ClinVar Annotator: match by OMIM:616760
ClinVar
OMIM
PMID:24824130 PMID:26160856 PMID:26902920 NCBI chr10:84,267,600...84,276,312
Ensembl chr10:84,267,399...84,274,965
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17286
    sensory system disease 5678
      skin disease 2992
        hair disease 256
          familial woolly hair syndrome 6
            Autosomal Recessive Woolly Hair 3
              autosomal recessive woolly hair 3 1
Path 2
Term Annotations click to browse term
  disease 17286
    Developmental Disease 10988
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9531
        genetic disease 9032
          monogenic disease 7190
            autosomal genetic disease 6338
              autosomal recessive disease 3497
                Autosomal Recessive Woolly Hair 3
                  autosomal recessive woolly hair 3 1
paths to the root