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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 term: Hypotrichosis 11 OMIM
ClinVar
PMID:9621144 PMID:23246290 NCBI chr13:45,050,986...45,057,231
Ensembl chr13:45,050,986...45,057,310
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    sensory system disease 6469
      skin disease 3754
        hair disease 255
          hypotrichosis 126
            hypotrichosis 11 1
Path 2
Term Annotations click to browse term
  disease 18030
    Developmental Disease 12741
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11401
        genetic disease 10993
          monogenic disease 8513
            autosomal genetic disease 7518
              autosomal dominant disease 5048
                hypotrichosis 11 1
paths to the root