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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:DEEAH Syndrome
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Accession:DOID:9003974 term browser browse the term
Definition:An autosomal recessive multisystemic disorder with onset in early infancy. The patients have failure to thrive and severely impaired global development with poor acquisition of motor, cognitive, and language skills. Patients also have dysmorphic and myopathic facial features.
Synonyms:exact_synonym: DEEAH;   developmental delay with endocrine, exocrine, autonomic, and hematologic abnormalities
 primary_id: OMIM:619004
For additional species annotation, visit the Alliance of Genome Resources.


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DEEAH Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Madd MAP-kinase activating death domain ISO ClinVar Annotator: match by term: DEEAH SYNDROME
ClinVar Annotator: match by term: Deeah syndrome		 OMIM
ClinVar		 PMID:25741868 PMID:32761064 NCBI chr 3:77,114,330...77,157,865
Ensembl chr 3:77,114,314...77,157,701 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      DEEAH Syndrome 1
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        Congenital Abnormalities 5603
          Multiple Abnormalities 2447
            DEEAH Syndrome 1
paths to the root