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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: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.


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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 chr11:38,251,991...38,274,234
Ensembl chr11:38,251,955...38,274,217
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        sensory system disease 5162
          skin disease 2749
            nail disease 57
              Malformed Nails 21
                Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.