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ONTOLOGY REPORT - ANNOTATIONS


Term:Aplasia Cutis Congenita with Epibulbar Dermoids
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Accession:DOID:9003822 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: OES;   Oculoectodermal Syndrome;   Oculoectodermal syndrome, somatic
 primary_id: MESH:C563969;   RDO:0013081
 alt_id: OMIM:600268
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Aplasia Cutis Congenita with Epibulbar Dermoids term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cluap1 clusterin associated protein 1 JBrowse link 10 11,847,058 11,878,792 RGD:8554872
G Kras KRAS proto-oncogene, GTPase JBrowse link 4 179,482,562 179,515,483 RGD:8554872
RGD:7240710
G Nlrp5 NLR family, pyrin domain containing 5 JBrowse link 1 71,452,184 71,490,915 RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15489
    syndrome 5228
      ectodermal dysplasia 225
        Aplasia Cutis Congenita with Epibulbar Dermoids 3
Path 2
Term Annotations click to browse term
  disease 15489
    disease of cellular proliferation 5803
      cancer 4144
        cell type cancer 3044
          sarcoma 231
            germ cell and embryonal cancer 41
              teratoma 22
                mature teratoma 5
                  dermoid cyst 5
                    Aplasia Cutis Congenita with Epibulbar Dermoids 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.