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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:HEART AND BRAIN MALFORMATION SYNDROME
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Accession:DOID:9006295 term browser browse the term
Synonyms:exact_synonym: HBMS
 primary_id: OMIM:616920;   RDO:0016176
For additional species annotation, visit the Alliance of Genome Resources.



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HEART AND BRAIN MALFORMATION SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smg9 SMG9 nonsense mediated mRNA decay factor ISO ClinVar Annotator: match by term: Heart and brain malformation syndrome ClinVar
OMIM
PMID:25741868 PMID:27018474 NCBI chr 1:79,988,540...80,011,262
Ensembl chr 1:79,988,612...80,011,254
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      HEART AND BRAIN MALFORMATION SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        sensory system disease 5680
          eye disease 2766
            Eye Abnormalities 401
              microphthalmia 102
                HEART AND BRAIN MALFORMATION SYNDROME 1
paths to the root