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Disease Ontology Browser
Ayme-Gripp syndrome (DOID:0111688)
Alliance: disease page
Synonyms: AYGRP; cataracts, congenital, with sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation
Alt IDs: OMIM:601088, MESH:C563390, UMLS_CUI:C1832812
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.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
09/27/2022
MGI 6.21
The Jackson Laboratory