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RGD uses the Human Disease Ontology (DO, 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

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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 OMIM
PMID:25741868 PMID:28492532 PMID:32761064 NCBI chr 3:77,114,330...77,157,865
Ensembl chr 3:77,114,314...77,157,701
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21089
    syndrome 10784
      DEEAH Syndrome 1
Path 2
Term Annotations click to browse term
  disease 21089
    Developmental Disease 18391
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18246
        Congenital Abnormalities 7506
          Multiple Abnormalities 3708
            DEEAH Syndrome 1
paths to the root