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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: MIM:300194
 xref: ORDO:86818


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    syndrome 11372
      chromosomal deletion syndrome 1604
        AMME complex 0
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
                    AMME complex 0
paths to the root