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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
 primary_id: OMIM:619218


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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 chr13:31,750,892...31,756,477
Ensembl chr13:31,751,545...31,755,943 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Neurodevelopmental Disorders 6848
        ENDOVE SYNDROME, LIMB-BRAIN TYPE 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          brain disease 11669
            disease of mental health 8321
              Neurodevelopmental Disorders 6848
                ENDOVE SYNDROME, LIMB-BRAIN TYPE 1
paths to the root