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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;   NEDHBM;   NEURODEVELOPMENTAL DISORDER WITH HEART AND BRAIN MALFORMATIONS
 primary_id: OMIM:616920


show annotations for term's descendants           Sort by:
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Heart and brain malformation syndrome		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:27018474 PMID:28492532 PMID:31390136 PMID:32412169 More... NCBI chr 1:79,988,540...80,011,262
Ensembl chr 1:79,988,612...80,011,254 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      HEART AND BRAIN MALFORMATION SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        Neurologic Manifestations 10055
          sensory system disease 6961
            eye disease 3492
              Eye Abnormalities 781
                microphthalmia 215
                  HEART AND BRAIN MALFORMATION SYNDROME 1
paths to the root