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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:Ayme-Gripp syndrome
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Accession:DOID:0111688 term browser browse the term
Definition:A syndrome characterized by congenital cataracts, sensorineural hearing loss, intellectual disability, seizures, brachycephaly, a distinctive flat facial appearance, and reduced growth that has_material_basis_in heterozygous mutation in MAF on chromosome 16q23.2. (DO)
Synonyms:exact_synonym: AYGRP;   congenital cataracts with sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation
 primary_id: MESH:C563390
 alt_id: OMIM:601088
For additional species annotation, visit the Alliance of Genome Resources.


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Ayme-Gripp syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Maf MAF bZIP transcription factor ISO ClinVar Annotator: match by OMIM:601088
ClinVar Annotator: match by term: Ayme-gripp syndrome
OMIM
ClinVar
PMID:8834052 PMID:8867660 PMID:12072800 PMID:17935251 PMID:25741868 PMID:25865493 NCBI chr19:48,179,826...48,200,995
Ensembl chr19:48,194,804...48,196,748
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    syndrome 7568
      Ayme-Gripp syndrome 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        sensory system disease 5238
          Otorhinolaryngologic Diseases 1168
            auditory system disease 751
              Hearing Disorders 610
                Hearing Loss 606
                  sensorineural hearing loss 498
                    Ayme-Gripp syndrome 1
paths to the root