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ONTOLOGY REPORT - ANNOTATIONS


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
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Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Otud6b OTU deubiquitinase 6B JBrowse link 5 28,333,019 28,350,093 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16022
    Developmental Diseases 9336
      Neurodevelopmental Disorders 4302
        intellectual disability 1940
          Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies 1
Path 2
Term Annotations click to browse term
  disease 16022
    disease of anatomical entity 15275
      nervous system disease 10770
        central nervous system disease 8860
          brain disease 8147
            disease of mental health 5775
              developmental disorder of mental health 2917
                specific developmental disorder 2099
                  intellectual disability 1940
                    Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.