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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: MIM: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 OMIM
ClinVar		 PMID:9536098 PMID:14638541 PMID:17576681 PMID:21448560 PMID:22542183 More... NCBI chr12:37,807,596...38,004,886
Ensembl chr12:37,808,285...38,004,473 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    Developmental Disease 14663
      congenital heart disease 1408
        Mental Retardation and Distinctive Facial Features with or without Cardiac Defects 1
Path 2
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      nervous system disease 14357
        central nervous system disease 12630
          brain disease 11847
            disease of mental health 8443
              developmental disorder of mental health 5647
                specific developmental disorder 4611
                  intellectual disability 4384
                    Mental Retardation and Distinctive Facial Features with or without Cardiac Defects 1
paths to the root