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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:ring chromosome 14 syndrome
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Accession:DOID:0070621 term browser browse the term
Definition:A ring chromosome syndrome characterized by early-onset epilepsy, developmental delay with mental retardation and poor speech, microcephaly, and dysmorphic facial features that has_material_basis_in chromosome 14 fusion into a ring or ring-like structure. (DO)
Synonyms:exact_synonym: Chromosome 14 ring;   Ring 14;   Ring 14 Syndrome;   r(14) syndrome;   r14 syndrome
 alt_id: DOID:9000295
 xref: GARD:6072;   MESH:C535487;   MIM:616606;   MONDO:0014708;   NCI:C185638;   ORDO:1440


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19104
    syndrome 11279
      ring chromosome 14 syndrome 0
Path 2
Term Annotations click to browse term
  disease 19104
    Developmental Disease 14615
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13628
        genetic disease 13290
          chromosomal disease 3052
            ring chromosome syndrome 0
              ring chromosome 14 syndrome 0
paths to the root