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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 11
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Accession:DOID:0110708 term browser browse the term
Definition:A hypotrichosis that has_material_basis_in a autosomal dominant mutation of SNRPE on chromosome 1q32.1. (DO)
Synonyms:exact_synonym: HYPT11
 primary_id: OMIM:615059
 alt_id: RDO:9000470
For additional species annotation, visit the Alliance of Genome Resources.


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hypotrichosis 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Snrpe small nuclear ribonucleoprotein polypeptide E ISO ClinVar Annotator: match by OMIM:615059 OMIM
ClinVar
PMID:9621144 PMID:23246290 NCBI chr13:50,252,707...50,258,951
Ensembl chr 8:129,371,556...129,371,973
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    sensory system disease 5584
      skin disease 2945
        hair disease 244
          hypotrichosis 119
            hypotrichosis 11 1
Path 2
Term Annotations click to browse term
  disease 17129
    Developmental Disease 10897
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9431
        genetic disease 8941
          monogenic disease 7121
            autosomal genetic disease 6276
              autosomal dominant disease 4450
                hypotrichosis 11 1
paths to the root