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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:Pili Torti
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Accession:DOID:9001511 term browser browse the term
Synonyms:exact_synonym: Twisted Hair
 primary_id: MESH:C562485;   RDO:0012194
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
Pili Torti, Developmental Delay, Neurological Abnormalities term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hephl1 hephaestin-like 1 ISO ClinVar Annotator: match by term: Pili torti and developmental delay OMIM
ClinVar
PMID:25741868 PMID:31125343 NCBI chr 8:11,896,768...11,965,298
Ensembl chr 8:11,898,532...11,965,267
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      integumentary system disease 3754
        hair disease 255
          Pili Torti 1
            Pili Torti Onychodysplasia 0
            Pili Torti, Developmental Delay, Neurological Abnormalities 1
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      nervous system disease 13079
        sensory system disease 6469
          skin disease 3754
            hair disease 255
              Pili Torti 1
                Pili Torti Onychodysplasia 0
                Pili Torti, Developmental Delay, Neurological Abnormalities 1
paths to the root