PMO Precision Medicine Ontology

Last uploaded: December 16, 2020
Preferred Name

Gangliosidosis, GM1

Synonyms
ID

http://www.phoc.org.cn/pmo/class/PMO_00038563

Database_Cross_Reference

JABL:309

DO:DOID:3322

MTH:NOCODE

CHV:0000015452

CSP:1849-8633

SNOMEDCT_US:238025006

MEDCIN:315536

MEDCIN:33592

OMIM:230500

NCI:C84739

SNOMEDCT_US:32917001

RCD:X40V7

HPO:HP:0008166

ICD10CM:E75.19

NDFRT:N0000003432

SNMI:D6-76010

MSH:D016537

OMIM:MTHU012898

label

Gangliosidosis, GM1

MCID

MC00043163

PMOID

PMO:00038563

prefixIRI

pmo:PMO_00038563

prefLabel

Gangliosidosis, GM1

Synonym

GLB1 DEFICIENCY

Tay-Sachs disease with visceral involvement

neurovisceral lipidosis

familial neurovisceral lipidosis

Beta Galactosidase 1 Deficiency Disease

Hurler-like syndrome

cerebral GM1 gangliosidosis

gagliosidosis GM1, type I

GM1 Gangliosidosis

generalized infantile gangliosidosis

G(M1) Gangliosidosis

GM GANGLIOSIDOSIS 01

pseudo-Hurler's (diagnosis)

gm1 gangliosidosis (diagnosis)

caffey syndrome

GM1 gangliosidosis (disorder)

generalized gangliosidosis GM1, type I

Beta-galactosidase-1 deficiency

gm1 gangliosidosis

pseudo-Hurler's

neuronal Gm(1) gangliosidosis

BETA GALACTOSIDASE 1 DEFIC

GM1 gangliosidosis, NOS

Gangliosidosis GM1

beta-Galactosidase isoenzyme deficiency

GANGLIOSIDOSIS GM 01

Beta-Galactosidase-1 Deficiency Disease

beta-Galactosidase deficiency

gangliosidosis GM1

Norman-Landing syndrome

deficiency of beta-galactosidase

generalized infantile gangliosidosis with bony involvement

Landing syndrome

beta-galactosidase-1 (GLB1) deficiency

Hurler variant

Caffey syndrome

beta-galactosidase-1 deficiency

Beta-Galactosidosis

Beta-galactosidase deficiency

GM1 gangliosidosis

Gangliosidosis, GM1 [Disease/Finding]

gangliosidosis gm1

GM>1< gangliosidosis

Caffey pseudo-Hurler syndrome

GM1 gangliosidosis

BETA-GALACTOSIDASE-1 DEFICIENCY

GM1 gangliosidosis, NOS

pseudo-Hurler disease

Beta Galactosidosis

GM1 gangliosidosis (disorder)

Gangliosidosis G(M1)

GM>1< gangliosidosis, NOS

GM>1< gangliosidosis (disorder)

Tree Number

T9.8.4.14.3.7.5.5.2

T9.11.1.2.2.4.5.2

T9.11.1.2.6.5.4.5.2

T9.11.1.6.2.19.5.5.2

T9.8.4.14.7.5.4.5.2

T9.11.1.12.7.5.4.5.2

T9.8.4.14.8.19.5.5.2

T9.21.15.5.17.2.19.5.5.2

T9.11.1.12.3.7.5.5.2

T9.11.1.12.8.19.5.5.2

subClassOf

http://www.phoc.org.cn/pmo/class/PMO_00038558

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