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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;   hypotrichosis, localized, autosomal recessive 3
 primary_id: MESH:C566950
 alt_id: RDO:0015155
For additional species annotation, visit the Alliance of Genome Resources.


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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, LOCALIZED, AUTOSOMAL RECESSIVE 3 ClinVar PMID:24824130, PMID:26160856 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
ISS
ClinVar Annotator: match by term: HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE 3
OMIM:278150
ClinVar Annotator: match by term: Hypotrichosis 8
ClinVar
MouseDO
PMID:18297070, PMID:18297072, PMID:18461368, PMID:21070332, PMID:21426374, PMID:25119526 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: HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE 3
ClinVar Annotator: match by term: Hypotrichosis 8
ClinVar PMID:18297070, PMID:18297072, PMID:18461368, PMID:21070332, PMID:21426374, PMID:25119526 NCBI chr15:55,081,582...55,209,060
Ensembl chr15:55,083,140...55,209,342
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    sensory system disease 5213
      skin disease 2758
        hair disease 262
          hypotrichosis 127
            hypotrichosis 8 3
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal recessive disease 2564
                hypotrichosis 8 3
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.