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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 TSPEAR 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
For additional species annotation, visit the Alliance of Genome Resources.


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ectodermal dysplasia 14 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tspear thrombospondin-type laminin G domain and EAR repeats ISO ClinVar Annotator: match by term: TSPEAR-related disorder of tooth and hair follicle morphogenesis
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
OMIM
PMID:22678063, PMID:24033266, PMID:25741868, PMID:25855803, PMID:26467025, PMID:27736875, PMID:28492532, PMID:29144512, PMID:30046887 NCBI chr20:11,501,510...11,529,210
Ensembl chr20:11,501,925...11,528,332
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      ectodermal dysplasia 250
        ectodermal dysplasia 14 1
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5627
            autosomal genetic disease 4631
              autosomal recessive disease 2512
                ectodermal dysplasia 14 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.