FNS-Harmony

Last uploaded: November 2, 2023
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Preferred Name

Tay-Sachs disease
Synonyms
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.
ID

http://purl.obolibrary.org/obo/DOID_3320
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.
imported from

http://purl.obolibrary.org/obo/doid.owl
label

Tay-Sachs disease
prefixIRI

DOID:3320
prefLabel

Tay-Sachs disease
subClassOf

http://purl.obolibrary.org/obo/DOID_3321
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http://purl.obolibrary.org/obo/DOID_3320 CLO SAME_URI
http://purl.obolibrary.org/obo/DOID_3320 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_3320 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_3320 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_3320 DDSS SAME_URI
http://purl.obolibrary.org/obo/DOID_3320 NIFSTD SAME_URI
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rgo:26277 GAMUTS LOOM
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http://www.radlex.org/RID/RID34416 RADLEX LOOM
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http://purl.bioontology.org/ontology/SNOMEDCT/111385000 SNOMEDCT LOOM