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Sandhoff disease

Go to external page http://purl.obolibrary.org/obo/MONDO_0010006

Sandhoff disease is a lysosomal storage disorder from the GM2 gangliosidosis family and is characterized by central nervous system degeneration. [ Orphanet:796 ]

Synonyms: Sandhoff disease, infantile, juvenile, and adult forms Sandhoff Jatzkewitz disease GM2 gangliosidosis 0 variant Sandhoff disease Hexosaminidases A and B deficiency

This is just here as a test because I lose it

Term information

database cross reference
  • OMIM:268800 (Orphanet:796/e)
  • SCTID:23849003 (MONDO:equivalentTo)
  • DOID:3323 (MONDO:equivalentTo)
  • UMLS:C0036161 (Orphanet:796/e)
  • GARD:2521 (Orphanet:796)
  • NORD:1688 (MONDO:NORD)
  • Orphanet:796 (OMIM:268800)
  • MESH:D012497 (Orphanet:796/e)
  • ICD10CM:E75.01 (MONDO:equivalentTo)
  • NCIT:C85052 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4521

exactMatch

http://purl.obolibrary.org/obo/NCIT_C85052

http://www.orpha.net/ORDO/Orphanet_796

http://purl.obolibrary.org/obo/DOID_3323

http://identifiers.org/snomedct/23849003

http://linkedlifedata.com/resource/umls/id/C0036161

http://identifiers.org/mesh/D012497

http://purl.bioontology.org/ontology/ICD10CM/E75.01

https://omim.org/entry/268800

has related synonym

GM2 gangliosidosis, type 2

Hexosaminidases a and B deficiency

total hexosaminidase deficiency

hexosaminidase A and B deficiency disease

Sandhoff disease, adult type

GM2 gangliosidosis, 0 variant

GM2-gangliosidosis, type 2

Sandhoff disease, infantile type

Beta-hexosaminidase-beta-subunit deficiency

Sandhoff-Jatzkewitz-Pilz disease

Sandhoff disease, juvenile type

id

MONDO:0010006

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0010006