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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:Mental Retardation and Distinctive Facial Features with or without Cardiac Defects
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Accession:DOID:9006001 term browser browse the term
Definition:This disease is 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.
Synonyms:exact_synonym: Asadollahi-Rauch syndrome;   CARDIAC ANOMALIES - DEVELOPMENTAL DELAY - FACIAL DYSMORPHISM SYNDROME;   MRFACD;   impaired intellectual development and distinctive facial features with or without cardiac defects
 narrow_synonym: IMPAIRED INTELLECTUAL DEVELOPMENT AND DISTINCTIVE FACIAL FEATURES WITH CARDIAC DEFECTS
 broad_synonym: MED13L-RELATED CONDITION;   MED13L-related disorder
 primary_id: OMIM:616789


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Mental Retardation and Distinctive Facial Features with or without Cardiac Defects term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MED13L mediator complex subunit 13L ISO ClinVar Annotator: match by term: Cardiac anomalies - developmental delay - facial dysmorphism syndrome | ClinVar Annotator: match by term: Impaired intellectual development and distinctive facial features with cardiac defects | ClinVar Annotator: match by term: MED13L-Related Disorder | ClinVar Annotator: match by term: MED13L-related condition OMIM
ClinVar		 PMID:9536098 PMID:14638541 PMID:17576681 PMID:22542183 PMID:24781760 More... NCBI chr12:113,531,181...113,850,854
Ensembl chr12:116,909,244...117,065,649 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    Developmental Disease 17885
      congenital heart disease 1343
        Mental Retardation and Distinctive Facial Features with or without Cardiac Defects 1
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      nervous system disease 13293
        central nervous system disease 11923
          brain disease 11204
            disease of mental health 8111
              developmental disorder of mental health 5547
                specific developmental disorder 4510
                  intellectual disability 4322
                    Mental Retardation and Distinctive Facial Features with or without Cardiac Defects 1
paths to the root