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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:AMME complex
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Accession:DOID:0111860 term browser browse the term
Definition:A syndrome characterized by Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis that has_material_basis_in hemizygous deletion of multiple genes including COL4A5, FACL4 and AMMECR1 on chromosome Xq22.3. (DO)
Synonyms:exact_synonym: AMME syndrome;   ATS-MR;   Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis;   Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome;   chromosome Xq22.3 telomeric deletion syndrome
 primary_id: MESH:C564570
 alt_id: OMIM:300194
 xref: ORDO:86818
For additional species annotation, visit the Alliance of Genome Resources.


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AMME complex term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a6 collagen type IV alpha 6 chain ISO OMIM NCBI chr  X:104,766,463...105,117,499 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17160
    syndrome 8040
      chromosomal deletion syndrome 1004
        AMME complex 1
Path 2
Term Annotations click to browse term
  disease 17160
    disease of anatomical entity 16500
      nervous system disease 12095
        central nervous system disease 10374
          brain disease 9732
            disease of mental health 7038
              developmental disorder of mental health 4372
                specific developmental disorder 3629
                  intellectual disability 3441
                    AMME complex 1
paths to the root