Preferred Name |
Tay-Sachs disease |
|
Synonyms |
A GM2 gangliosidosis that is characterized the 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. |
|
Definitions |
OMIM mapping confirmed by DO. [SN]. |
|
ID |
http://purl.obolibrary.org/obo/DOID_3320 |
|
comment |
OMIM mapping confirmed by DO. [SN]. |
|
database_cross_reference |
SNOMEDCT_US_2020_03_01:111385000 UMLS_CUI:C0039373 MESH:D013661 OMIM:272800 ICD10CM:E75.02 GARD:7737 NCI:C85184 |
|
has exact synonym |
A GM2 gangliosidosis that is characterized the 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. GM2 gangliosidosis, type 1 hexosaminidase A deficiency |
|
has_obo_namespace |
disease_ontology |
|
id |
DOID:3320 |
|
imported from | ||
in_subset | ||
label |
Tay-Sachs disease |
|
notation |
DOID:3320 |
|
prefLabel |
Tay-Sachs disease |
|
subClassOf |
The BioAssay Ontology integrates with OntoloBridge, allowing community users to suggest additions to the public ontology. Complete the template below to submit a term request directly to the ontology maintainer.
Term Label (required)
Suggested term name. If a term can be described with multiple synonyms, only list the preferred name here.
Example: tissue-based format
Term description (required)
A brief definition, description, or usage of your suggested term. Additional term synonyms may be listed in this section.
Example: Involves the use of a tissue derived from a living organism and is a heterogeneous assay type.
Superclass (required)
The parent term of the suggested term. The parent term should be an existing entry of the current ontology. The superclass can be selected directly from the 'Classes' viewer on Bioportal's left tree navigation.
Example: assay format
References (optional)
Provide evidence for the existence of the requested term such as PMIDs of papers or links to other resources that describe the term.
Justification (optional)
Provide any additional information about the requested term here.