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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:Hydrocephalus, Endocardial Fibroelastosis, and Cataracts
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Accession:DOID:9002480 term browser browse the term
Synonyms:exact_synonym: HEC syndrome;   communicating hydrocephalus, endocardial fibroelastosis (EFE) and congenital cataracts
 primary_id: MESH:C535855
 alt_id: MIM:600559



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    sensory system disease 7376
      eye disease 3723
        lens disease 556
          cataract 545
            Hydrocephalus, Endocardial Fibroelastosis, and Cataracts 0
Path 2
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      nervous system disease 14357
        Neurologic Manifestations 10449
          sensory system disease 7376
            eye disease 3723
              lens disease 556
                cataract 545
                  Hydrocephalus, Endocardial Fibroelastosis, and Cataracts 0
paths to the root