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Tay-Sachs Disease (MONDO:0010100)

GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency.

Overview

Category

disorder of orbital region

nervous system disorder

disorder of visual system

Ontology ID

MONDO:0010100

Internal:11287

Synonyms

GM2 gangliosidosis, B, B1 variant

GM2-gangliosidosis, several forms

Hex A pseudodeficiency

Tay Sachs Disease

Tay-Sachs disease

disease, Tay-Sachs

hexosaminidase A deficiency

B variant GM2 gangliosidosis

B variant GM2-gangliosidosis

GM2 gangliosidosis, type 1

GM2-gangliosidosis, adult chronic type

GM2-gangliosidosis, type 1

GM2-gangliosidosis, variant B1

TAY-Sachs disease

TSD

Tay-Sachs disease, juvenile

Tay-Sachs disease, pseudo-Ab variant

Tay-Sachs disease, variant B1

gangliosidosis GM2, type 1

hexa deficiency

hexosaminidase a deficiency

hexosaminidase a deficiency, adult type

hexosaminidase alpha-subunit deficiency (variant B)

sphingolipidosis, Tay-Sachs

Mapped terms

DOID:3320

GARD:0007737

ICD10CM:E75.02

MEDGEN:11713

MESH:D013661

MedDRA:10043147

NANDO:1200071

NANDO:2201199

NCIT:C85184

NORD:1761

OMIM:272800

Orphanet:845

SCTID:111385000

SCTID:49562005

UMLS:C0039373

icd11.foundation:215008783

Child terms

Results

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