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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:ENDOVE SYNDROME, LIMB-BRAIN TYPE
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Accession:DOID:9000530 term browser browse the term
Definition:This is a disease characterized by marked mesomelic shortening of the lower limbs due to severe hypoplasia of the tibia and fibula. The talus is absent and foot bones are rudimentary. Hands have four short, malformed fingers, and nails are absent on some fingers. In addition, there is cerebellar aplasia with hypoplasia of the brain stem.
Synonyms:exact_synonym: EN1 SYNDROME;   ENDOVESLB;   Limb-brain ENDOVE syndrome;   MESOMELIA OF LOWER EXTREMITIES WITH HAND, FOOT, AND BRAIN ANOMALIES;   MLEHFB
 pimary_id: OMIM:619218
For additional species annotation, visit the Alliance of Genome Resources.


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ENDOVE SYNDROME, LIMB-BRAIN TYPE term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G En1 engrailed homeobox 1 ISO ClinVar Annotator: match by term: ENDOVE SYNDROME, LIMB-BRAIN TYPE ClinVar
OMIM
PMID:33568816 NCBI chr13:36,532,758...36,537,888
Ensembl chr13:36,532,758...36,537,093
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    Developmental Disease 10589
      Neurodevelopmental Disorders 5572
        ENDOVE SYNDROME, LIMB-BRAIN TYPE 1
Path 2
Term Annotations click to browse term
  disease 16937
    disease of anatomical entity 16303
      nervous system disease 11877
        central nervous system disease 10208
          brain disease 9580
            disease of mental health 6937
              Neurodevelopmental Disorders 5572
                ENDOVE SYNDROME, LIMB-BRAIN TYPE 1
paths to the root