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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:hypotrichosis 8
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Accession:DOID:0110705 term browser browse the term
Definition:A hypotrichosis has_material_basis_in a autosomal recessive mutation of LPAR6 on chromosome 13q14.2. (DO)
Synonyms:exact_synonym: HYPT8;   LAH3;   localized hypotrichosis, autosomal recessive 3
 narrow_synonym: ARWH1;   autosomal recessive woolly hair 1, with or without hypotrichosis
 primary_id: OMIM:278150
 alt_id: MESH:C566950
 xref: ORDO:55654
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
hypotrichosis 8 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: Hypotrichosis 8 ClinVar PMID:24824130 PMID:26160856 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: Hypotrichosis 8 OMIM
ClinVar
PMID:18297070 PMID:18297072 PMID:18461368 PMID:21070332 PMID:21426374 More... 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: Hypotrichosis 8 ClinVar PMID:18297070 PMID:18297072 PMID:18461368 PMID:21070332 PMID:21426374 More... NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18256
    disease of anatomical entity 17617
      integumentary system disease 3880
        hair disease 260
          hypotrichosis 130
            hypotrichosis 8 3
Path 2
Term Annotations click to browse term
  disease 18256
    disease of anatomical entity 17617
      nervous system disease 13267
        Neurologic Manifestations 9338
          sensory system disease 6575
            skin disease 3880
              hair disease 260
                hypotrichosis 130
                  hypotrichosis 8 3
paths to the root