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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:NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES
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Accession:DOID:9000615 term browser browse the term
Definition:A syndromic disorder with multisystemic involvement. Affected individuals have severe global developmental delay with severely impaired intellectual development, poor or absent language, behavioral abnormalities, seizures, and sleep disturbances. Brain imaging shows dysgenesis of the corpus callosum and progressive cerebellar atrophy.
Synonyms:exact_synonym: NEDFASB
 primary_id: OMIM:619103



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NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kat5 lysine acetyltransferase 5 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities OMIM
ClinVar
PMID:25741868 PMID:32822602 NCBI chr 1:202,895,751...202,903,178
Ensembl chr 1:202,895,751...202,903,458
JBrowse link
G Rnaseh2c ribonuclease H2, subunit C ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities ClinVar PMID:25741868 PMID:32822602 NCBI chr 1:202,894,626...202,895,675
Ensembl chr 1:202,894,643...202,897,516
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21140
    Developmental Disease 18459
      Neurodevelopmental Disorders 6814
        NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES 2
Path 2
Term Annotations click to browse term
  disease 21140
    disease of anatomical entity 18187
      nervous system disease 14017
        central nervous system disease 12371
          brain disease 11608
            disease of mental health 8275
              Neurodevelopmental Disorders 6814
                NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES 2
paths to the root