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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 14
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Accession:DOID:0080582 term browser browse the term
Definition:A hypotrichosis that is characterized by sparse to absent lanugo-like scalp hair, sparse and brittle eyebrows, and sparse eyelashes and body hair and that has_material_basis_in homozygous or compound heterozygous mutation in the LSS gene on chromosome 21q22. (DO)
Synonyms:exact_synonym: HYPT14
 primary_id: OMIM:618275
For additional species annotation, visit the Alliance of Genome Resources.



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hypotrichosis 14 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lss lanosterol synthase ISO ClinVar Annotator: match by term: HYPOTRICHOSIS 14
ClinVar Annotator: match by term: Hypotrichosis 14
ClinVar
OMIM
PMID:25741868 PMID:30401459 NCBI chr20:12,091,138...12,118,858
Ensembl chr20:12,092,774...12,118,762
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      integumentary system disease 2974
        hair disease 247
          hypotrichosis 120
            hypotrichosis 14 1
Path 2
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      nervous system disease 12130
        sensory system disease 5658
          skin disease 2974
            hair disease 247
              hypotrichosis 120
                hypotrichosis 14 1
paths to the root