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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;   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: OMIM:300261
 xref: ORDO:85276
For additional species annotation, visit the Alliance of Genome Resources.


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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 X-linked mental retardation syndrome OMIM
ClinVar
PMID:10398235, PMID:25741868, PMID:32703943 NCBI chr  X:156,392,646...156,399,763
Ensembl chr  X:156,392,630...156,399,760
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      Armfield syndrome 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        central nervous system disease 9020
          brain disease 8346
            disease of mental health 6016
              developmental disorder of mental health 3136
                specific developmental disorder 2310
                  intellectual disability 2131
                    syndromic intellectual disability 684
                      Mental Retardation, X-Linked 661
                        syndromic X-linked intellectual disability 585
                          Armfield syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.