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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:oculoectodermal syndrome
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Accession:DOID:0111705 term browser browse the term
Definition:A disease characterized by the association of epibulbar dermoids and aplasia cutis congenita. Affected individuals exhibit congenital scalp lesions which are atrophic, nonscarring, hairless regions that are often multiple and asymmetric in distribution, and may have associated hamartomas. Ectodermal changes include linear hyperpigmentation that may follow the lines of Blaschko and, rarely, epidermal nevus-like lesions. Epibulbar dermoids may be uni- or bilateral.
Synonyms:exact_synonym: Aplasia Cutis Congenita with Epibulbar Dermoids;   OES;   Toriello-Lacassie-Droste syndrome;   aplasia cutis congenita-epibulbar dermoids syndrome;   oculoectodermal syndrome, somatic
 primary_id: MESH:C563969
 alt_id: OMIM:600268
 xref: GARD:10366;   ORDO:3339
For additional species annotation, visit the Alliance of Genome Resources.



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oculoectodermal syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLUAP1 clusterin associated protein 1 ISO ClinVar Annotator: match by term: Oculoectodermal syndrome ClinVar PMID:26820066 NCBI chr 3:38,716,562...38,753,743
Ensembl chr 3:38,716,403...38,753,748
JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO OMIM NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,790...48,549,346
JBrowse link
G NLRP5 NLR family pyrin domain containing 5 ISO ClinVar Annotator: match by term: Oculoectodermal syndrome
ClinVar Annotator: match by term: Toriello-Lacassie-Droste syndrome
ClinVar PMID:20738330 PMID:26323243 NCBI chr 6:60,375,670...60,418,908
Ensembl chr 6:60,379,623...60,409,465
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13699
    syndrome 7265
      ectodermal dysplasia 369
        oculoectodermal syndrome 3
Path 2
Term Annotations click to browse term
  disease 13699
    disease of cellular proliferation 6558
      Neoplasms by Histologic Type 4509
        Germ Cell and Embryonal Neoplasms 728
          germ cell cancer 87
            germ cell and embryonal cancer 40
              teratoma 18
                mature teratoma 4
                  dermoid cyst 4
                    oculoectodermal syndrome 3
paths to the root