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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:Armfield syndrome
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Accession:DOID:0050764 term browser browse the term
Definition:A syndromic X-linked intellectual disability characterized by intellectual disability, short stature, seizures, and small hands and feet and in some cases cleft palate or cataracts/glaucoma that has_material_basis_in variation in the chromosomal region Xq28. (DO)
Synonyms:exact_synonym: Armfield X-Linked Mental Retardation Syndrome;   FAM50A-RELATED CONDITION;   MRXSA;   Mental Retardation, X-Linked, Armfield Type;   X-linked intellectual disability, Armfield type;   X-linked mental retardation syndrome, Armfield type;   X-linked syndromic intellectual developmental disorder, Armfield type;   X-linked syndromic mental retardation, Armfield type
 primary_id: MESH:C564551
 alt_id: MIM:300261
 xref: ORDO:85276


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Armfield syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam50a family with sequence similarity 50, member A ISO ClinVar Annotator: match by term: Armfield syndrome | ClinVar Annotator: match by term: FAM50A-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:10398235 PMID:25741868 PMID:32703943 NCBI chr  X:157,246,533...157,253,650
Ensembl chr  X:157,246,533...157,253,650 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19150
    syndrome 11436
      Armfield syndrome 1
Path 2
Term Annotations click to browse term
  disease 19150
    disease of anatomical entity 18458
      nervous system disease 14370
        central nervous system disease 12648
          brain disease 11868
            disease of mental health 8486
              developmental disorder of mental health 5665
                specific developmental disorder 4641
                  intellectual disability 4407
                    X-Linked Intellectual Developmental Disorders 828
                      syndromic X-linked intellectual disability 619
                        Armfield syndrome 1
paths to the root