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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:Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies
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Accession:DOID:9000505 term browser browse the term
Definition:An autosomal recessive severe multisystem disorder characterized by poor overall growth, developmental delay, early-onset seizures, intellectual disability, and dysmorphic features. (OMIM)
Synonyms:exact_synonym: IDDFSDA;   OTUD6B-RELATED CONDITION
 primary_id: OMIM:617452


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Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Otud6b OTU deubiquitinase 6B ISO ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies | ClinVar Annotator: match by term: OTUD6B-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:28343629 PMID:28492532 PMID:31147255 PMID:32181568 More... NCBI chr 5:28,181,992...28,214,486
Ensembl chr 5:28,023,594...28,214,334 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Neurodevelopmental Disorders 6831
        intellectual disability 4289
          Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        Neurologic Manifestations 10039
          sensory system disease 6940
            eye disease 3477
              visual pathway disease 346
                visual cortex disease 343
                  visual epilepsy 343
                    Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies 1
paths to the root