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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:ectodermal dysplasia 14
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Accession:DOID:0111662 term browser browse the term
Definition:An ectodermal dysplasia characterized by scalp hypotrichosis and hypodontia that has_material_basis_in homozygous or compound heterozygous mutation in the TSPEAR gene on chromosome 21q22.3. (DO)
Synonyms:exact_synonym: ECTD14;   ECTN14;   ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS;   Ectodermal dysplasia-14 of the hair/tooth type;   TSPEAR-related disorder of tooth and hair follicle morphogenesis
 narrow_synonym: ectodermal dysplasia 14, hair/tooth type with hypohidrosis
 primary_id: OMIM:618180


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ectodermal dysplasia 14 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krtap10-1 keratin associated protein 10-1 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis ClinVar PMID:25741868 NCBI chr20:10,880,524...10,881,445
Ensembl chr20:10,855,181...10,864,362 		JBrowse link
G Tspear thrombospondin-type laminin G domain and EAR repeats ISO ClinVar Annotator: match by term: Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis | ClinVar Annotator: match by term: Ectodermal dysplasia 14, hair/tooth type, with hypohidrosis | ClinVar Annotator: match by term: TSPEAR-related disorder of tooth and hair follicle morphogenesis OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:22678063 PMID:24033266 PMID:25741868 More... NCBI chr20:10,771,806...10,837,419
Ensembl chr20:10,772,219...10,943,914 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      ectodermal dysplasia 542
        ectodermal dysplasia 14 2
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        Neurologic Manifestations 10055
          sensory system disease 6961
            skin disease 3968
              Genetic Skin Diseases 1852
                ectodermal dysplasia 542
                  ectodermal dysplasia 14 2
paths to the root