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RGD uses the Human Disease Ontology (DO, 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:Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome
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Accession:DOID:9008620 term browser browse the term
Synonyms:exact_synonym: CHANDS
 primary_id: MESH:C538074;   RDO:0004007
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ripk4 receptor-interacting serine-threonine kinase 4 ISO ClinVar Annotator: match by term: Curly hair, ankyloblepharon, nail dysplasia syndrome ClinVar PMID:23610050 PMID:25326635 PMID:25741868 PMID:26129644 PMID:28940926 NCBI chr11:37,122,555...37,144,799
Ensembl chr11:37,122,565...37,144,799
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17427
    syndrome 8258
      Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome 1
Path 2
Term Annotations click to browse term
  disease 17427
    disease of anatomical entity 16758
      nervous system disease 12204
        sensory system disease 5708
          skin disease 2999
            nail disease 94
              Malformed Nails 22
                Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome 1
paths to the root