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ONTOLOGY REPORT - ANNOTATIONS


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: DOID:9005651;   OMIM:601088
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Ayme-Gripp syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Maf MAF bZIP transcription factor JBrowse link 19 48,179,826 48,200,995 RGD:8554872
RGD:7240710

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Path 1
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  disease 15609
    syndrome 5791
      Ayme-Gripp syndrome 1
Path 2
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  disease 15609
    disease of anatomical entity 14966
      nervous system disease 10397
        sensory system disease 4769
          Otorhinolaryngologic Diseases 1090
            auditory system disease 696
              Hearing Disorders 577
                Hearing Loss 573
                  sensorineural hearing loss 467
                    Ayme-Gripp syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.