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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;   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 disorder
 primary_id: OMIM:616789
For additional species annotation, visit the Alliance of Genome Resources.



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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: ASADOLLAHI-RAUCH 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:14638541 PMID:22542183 PMID:24781760 PMID:25167861 PMID:25712080 More... NCBI chr12:37,807,596...38,004,485
Ensembl chr12:37,808,285...38,004,473
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18215
    Developmental Disease 13067
      congenital heart disease 1202
        Mental Retardation and Distinctive Facial Features with or without Cardiac Defects 1
Path 2
Term Annotations click to browse term
  disease 18215
    disease of anatomical entity 17576
      nervous system disease 13208
        central nervous system disease 11365
          brain disease 10659
            disease of mental health 7548
              developmental disorder of mental health 4910
                specific developmental disorder 4171
                  intellectual disability 3984
                    Mental Retardation and Distinctive Facial Features with or without Cardiac Defects 1
paths to the root