Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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:pure hair and nail ectodermal dysplasia
go back to main search page
Accession:DOID:0111655 term browser browse the term
Definition:An ectodermal dysplasia characterized by onychodystrophy and severe hypotrichosis without nonectodermal or other ectodermal manifestations. (DO)
Synonyms:exact_synonym: Ectodermal Dysplasia, Pure Hair-Nail Type
 primary_id: MESH:C566592
 xref: ORDO:69084
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
ectodermal dysplasia 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxc13 homeobox C13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24239177 NCBI chr 7:144,531,814...144,538,298
Ensembl chr 7:144,531,814...144,537,966
JBrowse link
G Krt85 keratin 85 ISO OMIM NCBI chr 7:143,160,480...143,167,828
Ensembl chr 7:143,161,235...143,167,772
JBrowse link
ectodermal dysplasia 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxc13 homeobox C13 ISO ClinVar Annotator: match by OMIM:614931 OMIM
ClinVar
PMID:23063621, PMID:23315978 NCBI chr 7:144,531,814...144,538,298
Ensembl chr 7:144,531,814...144,537,966
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      ectodermal dysplasia 250
        pure hair and nail ectodermal dysplasia 2
          ectodermal dysplasia 4 2
          ectodermal dysplasia 5 0
          ectodermal dysplasia 6 0
          ectodermal dysplasia 7 0
          ectodermal dysplasia 9 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        sensory system disease 5213
          skin disease 2758
            Genetic Skin Diseases 890
              ectodermal dysplasia 250
                pure hair and nail ectodermal dysplasia 2
                  ectodermal dysplasia 4 2
                  ectodermal dysplasia 5 0
                  ectodermal dysplasia 6 0
                  ectodermal dysplasia 7 0
                  ectodermal dysplasia 9 1
paths to the root

NHLBI Logo

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