Sialidosis type 2 (ST-2) is a rare lysosomal storage disease, and the severe, early onset form of sialidosis characterized by a progressively severe mucopolysaccharidosis-like phenotype (coarse facies, dysostosis multiplex, hepatosplenomegaly), macular cherry-red spots as well as psychomotor and developmental delay. ST-2 displays a broad spectrum of clinical severity with antenatal/congenital, infantile and juvenile presentations. [ Orphanet:87876 ]

This is just here as a test because I lose it

Term information

database cross reference
  • UMLS:C0268232 (OMIM:256150)
  • MESH:C562606 (MONDO:equivalentTo)
  • OMIM:256150 (Orphanet:87876)
  • Orphanet:87876 (OMIM:256550)
  • SCTID:52186006 (MONDO:equivalentTo)
  • NCIT:C125596 (MONDO:equivalentTo)
  • SCTID:81896006 (MONDO:equivalentTo)
  • ICD10:E77.1 (Orphanet:87876)
  • GARD:0007183 (Orphanet-shared)
  • UMLS:C3888317 (Orphanet:87876)
  • UMLS:CN206285 (MONDO:equivalentTo)
  • OMIM:256550 (Orphanet:87876)
  • DOID:3343 (MONDO:equivalentTo)
Subsets

ordo_disease

abbreviation
ML1 [ GARD:0007183 ]

closeMatch

http://linkedlifedata.com/resource/umls/id/C0268228

http://linkedlifedata.com/resource/umls/id/C0268226

http://linkedlifedata.com/resource/umls/id/C1850510

comment

See https://github.com/monarch-initiative/monarch-disease-ontology/issues/227

conformsTo

http://purl.obolibrary.org/obo/mondo/patterns/specific_disease_by_dysfunctional_structure.yaml

definition

Sialidosis type 2 (ST-2) is a rare lysosomal storage disease, and the severe, early onset form of sialidosis characterized by a progressively severe mucopolysaccharidosis-like phenotype (coarse facies, dysostosis multiplex, hepatosplenomegaly), macular cherry-red spots as well as psychomotor and developmental delay. ST-2 displays a broad spectrum of clinical severity with antenatal/congenital, infantile and juvenile presentations.

exactMatch

http://identifiers.org/mesh/C562606

http://identifiers.org/omim/256150

http://identifiers.org/snomedct/52186006

http://purl.obolibrary.org/obo/DOID_3343

http://identifiers.org/snomedct/81896006

http://www.orpha.net/ORDO/Orphanet_87876

http://purl.obolibrary.org/obo/NCIT_C125596

http://linkedlifedata.com/resource/umls/id/CN206285

http://linkedlifedata.com/resource/umls/id/C3888317

http://linkedlifedata.com/resource/umls/id/C0268232

http://identifiers.org/omim/256550

has broad synonym

sialidosis

has exact synonym

mucolipidosis I

sialidosis, type 2

dysmorphic sialidosis with renal involvement

dysmorphic sialidosis

mucolipidosis type I

NEU1 sialidosis

infantile dysmorphic sialidosis

sialidosis type II

nephrosialidosis

sialidosis caused by mutation in NEU1

has related synonym

mucolipidosis type 1

Neu deficiency

Neu1 deficiency

glycoprotein neuraminidase deficiency

lipomucopolysaccharidosis

Neug deficiency

sialidase deficiency

sialidosis, type 1

glycoproteinosis

ML1

ML 1

neuraminidase deficiency

NEU 1 deficiency

sialidosis, type II

mucolipidosis 1

cherry Red spot--myoclonus syndrome

myoclonus--cherry Red spot syndrome

neuraminidase 1 deficiency

id

MONDO:0009738