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ONTOLOGY REPORT - ANNOTATIONS


Term:Mental Retardation and Distinctive Facial Features with or without Cardiac Defects
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Accession:DOID:9006001 term browser browse the term
Definition:An autosomal dominant, complex syndromic neurodevelopmental disorder characterized by delayed psychomotor development, poor speech acquisition, distinctive dysmorphic facial features, including frontal bossing, upslanting palpebral fissures, depressed nasal bridge with bulbous tip, and macrostomia. (OMIM)
Synonyms:exact_synonym: MRFACD
 primary_id: OMIM:616789;   RDO:9001155
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Mental Retardation and Distinctive Facial Features with or without Cardiac Defects term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Med13l mediator complex subunit 13-like JBrowse link 12 43,421,317 43,576,859 RGD:8554872
RGD:7240710

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Term Annotations click to browse term
  disease 16022
    Developmental Diseases 9336
      congenital heart disease 1040
        Mental Retardation and Distinctive Facial Features with or without Cardiac Defects 1
Path 2
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  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
                    Mental Retardation and Distinctive Facial Features with or without Cardiac Defects 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.