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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
GM2 gangliosidosis +     
Sandhoff disease +   
Tay-Sachs disease +   
A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23. (DO)

Synonyms
Exact Synonyms: B Variant GM2 Gangliosidosis ;   Deficiency Disease Hexosaminidase A ;   GM2 Gangliosidosis, Type 1 ;   GM2-GANGLIOSIDE ACCUMULATION ;   GM2-gangliosidoses, variant B ;   GM2-gangliosidosis type I ;   Gangliosidosis G(M2), Type I ;   Gangliosidosis, GM2, type I (B variant) ;   Gm2-Gangliosidosis, Chronic ;   Gm2-Gangliosidosis, Juvenile ;   HexA Deficiency ;   Hexosaminidase A Deficiency ;   Hexosaminidase alpha Subunit Deficiency (Variant B) ;   TSD ;   Tay-Sachs sphingolipidosis ;   amaurotic familial idiocy ;   pseudodeficiency of beta-hexosaminidase A
Narrow Synonyms: GM2-GANGLIOSIDOSIS, VARIANT B1 ;   HEXA DEFICIENCY TAY-SACHS DISEASE, JUVENILE ;   HEXOSAMINIDASE A DEFICIENCY, ADULT TYPE ;   Tay-Sachs disease, juvenile/adult ;   Tay-Sachs disease, pseudo-AB variant ;   Tay-Sachs disease, variant B ;   Tay-Sachs disease, variant B1
Related Synonyms: Hexa, dn Allele
Primary IDs: MESH:D013661
Alternate IDs: OMIA:001461 ;   OMIM:272800
Xrefs: GARD:7737 ;   ICD10CM:E75.02 ;   NCI:C85184
Definition Sources: https://medlineplus.gov/genetics/condition/tay-sachs-disease/ "DO" "DO", https://www.genome.gov/Genetic-Disorders/Tay-Sachs-Disease "DO" "DO", https://www.ncbi.nlm.nih.gov/books/NBK1218/ "DO" "DO"

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