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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
 primary_id: OMIM:617452
For additional species annotation, visit the Alliance of Genome Resources.


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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
OMIM
PMID:25741868 PMID:28343629 NCBI chr 5:28,333,019...28,350,093
Ensembl chr 5:28,333,019...28,349,927
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Neurodevelopmental Disorders 4657
        intellectual disability 2190
          Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        central nervous system disease 9119
          brain disease 8448
            disease of mental health 6088
              developmental disorder of mental health 3187
                specific developmental disorder 2367
                  intellectual disability 2190
                    Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies 1
paths to the root