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PMO Precision Medicine Ontology
Last uploaded:
December 16, 2020
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Preferred Name | Gangliosidosis, GM1 | |
Synonyms |
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ID |
http://www.phoc.org.cn/pmo/class/PMO_00038563 |
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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
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label |
Gangliosidosis, GM1
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MCID |
MC00043163
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PMOID |
PMO:00038563
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prefixIRI |
pmo:PMO_00038563
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prefLabel |
Gangliosidosis, GM1
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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 GM<sub>1</sub> 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 GM<sub>1</sub> gangliosidosis BETA-GALACTOSIDASE-1 DEFICIENCY GM1 gangliosidosis, NOS pseudo-Hurler disease Beta Galactosidosis GM<sub>1</sub> gangliosidosis (disorder) Gangliosidosis G(M1) GM>1< gangliosidosis, NOS GM>1< gangliosidosis (disorder)
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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
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subClassOf |
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