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DOID:3320

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Name:Tay-Sachs disease
Namespace:disease_ontology
Xrefs:
links:

MSH:D013661
NCI:C85184
OMIM:272800
SNOMEDCT_2010_1_31:111385000

UMLS_CUI:C0039373
Synonyms: "disease, Tay-Sachs" EXACT [MTHICD9_2006:330.1]
"hexosaminidase A deficiency" EXACT [CSP2005:1849-8690]
"Tay-Sachs disease (disorder)" EXACT [SNOMEDCT_2005_07_31:111385000]
Comments:OMIM mapping confirmed by DO. [SN].

Ontology association
Each term has an is_a parent in the Disease Ontology, which has a linkage to an another entity and FANTOM5 samples.Libraries were grouped into mutually exclusive facets according to the FANTOM5 sample ontology mapping to DISEASE ontologies.

link to ontology dataset
data


Parents

is_a:DOID:3321(gangliosidosis GM2)



Children


is a:FF:10599-108E5 ()

Ontology Tree: Loaded from BioPortal

Ontorolgy tree(Small window open)

FF samples

Human (Homo sapiens)

Mouse (Mus musculus)

Enrichment analysis: top 100 FFCP enriched with this ontology termTOP 100 FANTOM5 Cage Peaks enriched with DOID:3320 (Tay-Sachs disease), sorted by p-values
Analyst: Hideya Kawaji

link to source dataset
human : data
mouse : data


No analysis results