Multiple sulfatase deficiency (MSD) is a very rare and fatal lysosomal storage disease characterized by a clinical phenotype that combines the features of different sulfatase deficiencies (whether lysosomal or not) that can have neonatal (most severe), infantile (most common) and juvenile (rare) presentations with manifestations including hypotonia, coarse facial features, mild deafness, skeletal anomalies, ichthyosis, hepatomegaly, developmental delay, progressive neurologic deterioration and hydrocephalus. [ Orphanet:585 ]

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:0005061 (Orphanet-shared)
  • MESH:D052517 (MONDO:equivalentTo)
  • DOID:0050441 (MONDO:equivalentTo)
  • SCTID:54898003 (MONDO:equivalentTo)
  • OMIM:272200 (Orphanet:585)
  • Orphanet:585 (OMIM:272200)
  • ICD10:E75.2 (Orphanet:585)
  • NCIT:C84908 (MONDO:equivalentTo)
  • UMLS:C0268263 (Orphanet:585)
Subsets

ordo_disease

abbreviation
MSD [ https://omim.org/entry/272200 MONDO:Lexical Orphanet:585 ]

closeMatch

http://identifiers.org/snomedct/254076009

definition

Multiple sulfatase deficiency (MSD) is a very rare and fatal lysosomal storage disease characterized by a clinical phenotype that combines the features of different sulfatase deficiencies (whether lysosomal or not) that can have neonatal (most severe), infantile (most common) and juvenile (rare) presentations with manifestations including hypotonia, coarse facial features, mild deafness, skeletal anomalies, ichthyosis, hepatomegaly, developmental delay, progressive neurologic deterioration and hydrocephalus.

exactMatch

http://identifiers.org/omim/272200

http://www.orpha.net/ORDO/Orphanet_585

http://linkedlifedata.com/resource/umls/id/C1720864

http://purl.obolibrary.org/obo/DOID_0050441

http://linkedlifedata.com/resource/umls/id/C0268263

http://identifiers.org/snomedct/54898003

http://purl.obolibrary.org/obo/NCIT_C84908

http://identifiers.org/mesh/D052517

has exact synonym

multiple sulfatase deficiency disease

juvenile sulfatidosis, Austin type

sulfatidosis, juvenile, Austin type

mucosulfatidosis

MSD

has related synonym

sulfatidosis juvenile, Austin type

multiple sulfatase deficiency

juvenile sulfatidosis

id

MONDO:0010088