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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: CHAND syndrome;   CHANDS
 broad_synonym: RIPK4-RELATED CONDITION
 primary_id: MESH:C538074
 alt_id: MIM:214350


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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 Annotator: match by term: RIPK4-related condition OMIM
ClinVar		 PMID:23610050 PMID:25326635 PMID:25741868 PMID:26129644 PMID:28492532 More... NCBI chr11:50,591,926...50,614,169
Ensembl chr11:37,122,565...37,144,799 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    syndrome 11403
      Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome 1
Path 2
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      nervous system disease 14363
        Neurologic Manifestations 10464
          sensory system disease 7381
            skin disease 4322
              nail disease 118
                Malformed Nails 34
                  Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome 1
paths to the root