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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 14926
    Developmental Diseases 7782
      congenital heart disease 732
        Mental Retardation and Distinctive Facial Features with or without Cardiac Defects 1
Path 2
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14096
      nervous system disease 9148
        central nervous system disease 6948
          brain disease 6452
            disease of mental health 4334
              developmental disorder of mental health 2608
                specific developmental disorder 1771
                  intellectual disability 1599
                    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.