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Gm1 Gangliosidosis Type 1 (MONDO:0009260)

GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis with variable neurological and systemic manifestations.

Overview

Category

Ontology ID

Internal:10501

Synonyms

Norman-Landing disease

infantile GM1 gangliosidosis

Beta galactosidase deficiency type 1

Beta-galactosidase-1 deficiency

GLB deficiency type 1

GM1-gangliosidosis, type 1

GM1-gangliosidosis, type I

GM1-gangliosidosis, type I, with Cardiac involvement

Glb1 deficiency

gangliosidosis generalised GM1 infantile form

gangliosidosis generalised GM1 type 1

gangliosidosis generalized GM1 infantile form

gangliosidosis generalized GM1 type 1

gangliosidosis, generalised GM1, infantile form

gangliosidosis, generalised GM1, type 1

gangliosidosis, generalised GM1, type I, with Cardiac involvement

gangliosidosis, generalized GM1, infantile form

gangliosidosis, generalized GM1, type 1

gangliosidosis, generalized GM1, type I, with Cardiac involvement

Mapped terms

DOID:0080502

GARD:0006479

MEDGEN:75665

NANDO:1200067

NANDO:2201196

OMIM:230500

Orphanet:79255

SCTID:238026007

UMLS:C0268271

icd11.foundation:466200180

Child terms

Unknown children.