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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 10B
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Accession:DOID:0111665 term browser browse the term
Definition:A hypohidrotic ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in EDAR on chromosome 2q13. (DO)
Synonyms:exact_synonym: AUTOSOMAL RECESSIVE HYPOHIDROTIC ECTODERMAL DYSPLASIA SYNDROME;   ECTD10B;   ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE;   EDA;   HED;   ectodermal dysplasia 10B, hypohidrotic/hair/nail type, autosomal recessive
 broad_synonym: Autosomal Recessive Anhydrotic Ectodermal Dysplasia;   anhidridic ectodermal dysplasia, autosomal recessive;   anhidrotic ectodermal dysplasia, autosomal recessive;   anhydridic ectodermal dysplasia, autosomal recessive;   hypohidrotic ectodermal dysplasia, autosomal recessive
 primary_id: MESH:D053360
 alt_id: OMIM:224900
For additional species annotation, visit the Alliance of Genome Resources.


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ectodermal dysplasia 10B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc138 coiled-coil domain containing 138 ISO ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia syndrome ClinVar PMID:28492532 NCBI chr20:28,076,784...28,158,053
Ensembl chr20:28,078,500...28,157,071
JBrowse link
G Edar ectodysplasin-A receptor ISO ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by OMIM:224900
OMIM
ClinVar
PMID:10431241, PMID:11035039, PMID:11279189, PMID:15013427, PMID:15373768, PMID:16435307, PMID:17125505, PMID:18231121, PMID:18816645, PMID:20236127, PMID:20979233, PMID:21771270, PMID:22032522, PMID:23401279, PMID:23991204, PMID:24641098, PMID:24884697, PMID:25741868, PMID:26336973, PMID:27305980, PMID:27657131, PMID:28492532 NCBI chr20:28,179,132...28,263,092
Ensembl chr20:28,179,140...28,263,037
JBrowse link
G Edaradd EDAR-associated death domain ISO ClinVar Annotator: match by OMIM:224900
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:9245989, PMID:11780064, PMID:17354266 NCBI chr17:90,802,280...90,843,476
Ensembl chr17:90,802,393...90,843,485
JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE ClinVar PMID:28492532 NCBI chr20:28,027,054...28,076,664
NCBI chr20:28,365,538...28,375,676
Ensembl chr20:28,027,054...28,076,664
Ensembl chr20:28,027,054...28,076,664
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      ectodermal dysplasia 250
        hypohidrotic ectodermal dysplasia 14
          ectodermal dysplasia 10B 4
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        sensory system disease 5162
          mouth disease 750
            tooth disease 279
              Tooth Abnormalities 148
                anodontia 40
                  hypohidrotic ectodermal dysplasia 14
                    ectodermal dysplasia 10B 4
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.