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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 chr10:87,225,361...87,238,659
Ensembl chr10:87,225,343...87,232,723
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 chr15:55,126,953...55,128,762
Ensembl chr15:55,126,953...55,128,761
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 chr15:55,081,582...55,209,060
Ensembl chr15:55,083,140...55,209,342
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 chr10:87,225,361...87,238,659
Ensembl chr10:87,225,343...87,232,723
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    sensory system disease 5162
      skin disease 2749
        hair disease 261
          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 16103
    Developmental Diseases 9506
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8364
        genetic disease 7847
          monogenic disease 5622
            autosomal genetic disease 4625
              autosomal recessive disease 2502
                Autosomal Recessive Woolly Hair 3
                  autosomal recessive woolly hair 3 1
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.