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Human Health Exposure Analysis Resource
Last uploaded:
July 19, 2024
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| Id | http://purl.obolibrary.org/obo/DOID_3320
http://purl.obolibrary.org/obo/DOID_3320
|
|---|---|
| Preferred Name | Tay-Sachs disease |
| Definitions |
A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23.
OMIM mapping confirmed by DO. [SN].
|
| Synonyms |
GM2 gangliosidosis, type 1
hexosaminidase A deficiency
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23. OMIM mapping confirmed by DO. [SN]. |
|---|---|
| alternative label |
GM2 gangliosidosis, type 1
hexosaminidase A deficiency
|
| preferred label |
Tay-Sachs disease
|
| label |
Tay-Sachs disease
|
| comment |
OMIM mapping confirmed by DO. [SN].
|
| prefLabel |
Tay-Sachs disease
|
| database_cross_reference |
UMLS_CUI:C0039373
SNOMEDCT_US_2023_03_01:111385000
MESH:D013661
ICD10CM:E75.02
GARD:7737
MIM:272800
NCI:C85184
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| notation |
DOID:3320
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| in_subset | |
| id |
DOID:3320
|
| note |
A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23.
OMIM mapping confirmed by DO. [SN].
|
| has_obo_namespace |
disease_ontology
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| existence starts during | |
| subClassOf | |
| type | |
| has exact synonym |
GM2 gangliosidosis, type 1
hexosaminidase A deficiency
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| existence starts during or after |
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