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metachromatic leukodystrophy

Go to external page http://purl.obolibrary.org/obo/MONDO_0018868

A rare lysosomal storage disorder characterized by intralysosomal accumulation of sulfatides in various tissues, leading to progressive deterioration of motor and neurocognitive function. [ Orphanet:512 ]

Synonyms: metachromatic leukodystrophy MLD arylsulfatase A deficiency sulfatide lipoidosis Scholz cerebral sclerosis deficiency of cerebroside-sulfatase

This is just here as a test because I lose it

Term information

database cross reference
  • UMLS:C0023522 (Orphanet:512/e)
  • Orphanet:512 (MONDO:equivalentTo)
  • DOID:10581 (MONDO:equivalentTo)
  • SCTID:66521008 (MONDO:equivalentTo)
  • NORD:1369 (MONDO:NORD)
  • MESH:D007966 (Orphanet:512/e)
  • NCIT:C61251 (MONDO:equivalentTo)
  • GARD:3230 (Orphanet:512)
  • MedDRA:10067609 (Orphanet:512/e)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

closeMatch

http://identifiers.org/meddra/10067609

exactMatch

http://purl.obolibrary.org/obo/NCIT_C61251

http://purl.obolibrary.org/obo/DOID_10581

http://identifiers.org/mesh/D007966

http://www.orpha.net/ORDO/Orphanet_512

http://identifiers.org/snomedct/66521008

http://linkedlifedata.com/resource/umls/id/C0023522

id

MONDO:0018868

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0018868