Wikidata

(Q560337)

English

Tay-Sachs disease

Human medical condition

  • hexosaminidase A deficiency
  • Tay-Sachs disease (disorder)
  • disease, Tay-Sachs
  • GM2 gangliosidosis, type 1
  • Hexosaminidase a Deficiency, Adult Type
  • Hexosaminidase alpha-subunit deficiency (variant B)
  • Gm2-Gangliosidosis, Variant B1
  • Gm2-Gangliosidosis, Adult Chronic Type
  • B variant GM2 gangliosidosis
  • Gm2-Gangliosidosis, Type 1
  • Hexa Deficiency
  • GM2 gangliosidosis, B, B1 variant
  • Sphingolipidosis, Tay-Sachs
  • TAY-SACHS DISEASE; TSD
  • TSD
  • Tay-Sachs Disease, Variant B1
  • Tay-Sachs Disease, Juvenile
  • Tay-Sachs Disease, Pseudo-Ab Variant
  • B Variant Gm2-Gangliosidosis
  • TAY-SACHS DISEASE
  • Gangliosidosis GM2 , type 1
In more languages
default for all languages
No label defined

No description defined

Statements

instance of
rare disease
0 references
class of disease
0 references
named after
Warren Taylor
0 references
Bernard Sachs
0 references
discoverer or inventor
Bernard Sachs
0 references
Waren Tay
0 references
health specialty
pediatrics
0 references
neurology
0 references
medical genetics
0 references
mode of inheritance
autosomal recessive
2 references
quotation
Tay-Sachs disease is an autosomal recessive, progressive neurodegenerative disorder (English)
stated in
Online Mendelian Inheritance in Man
OMIM ID
272800

Identifiers

KEGG ID
H02016
0 references
Mondo ID
MONDO_0010100
0 references
OMIM ID
272800
0 references
UK Parliament thesaurus ID
429842
subject named as
Tay-Sachs disease
0 references
 
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