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sialidosis type 2

Go to external page http://purl.obolibrary.org/obo/MONDO_0009738

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 ]

Synonyms: mucolipidosis I sialidosis, type 2 dysmorphic sialidosis dysmorphic sialidosis with renal involvement mucolipidosis type I NEU1 sialidosis sialidosis, type I infantile dysmorphic sialidosis nephrosialidosis sialidosis type II sialidosis caused by mutation in NEU1

This is just here as a test because I lose it

Term information

database cross reference
  • NANDO:1200120 (https://orcid.org/0000-0003-0011-764X)
  • NANDO:2201192 (https://orcid.org/0000-0003-0011-764X)
  • MESH:C562606 (MONDO:equivalentTo)
  • SCTID:81896006 (MONDO:equivalentTo)
  • NCIT:C125596 (MONDO:equivalentTo)
  • Orphanet:87876 (OMIM:256550)
  • DOID:3343 (MONDO:equivalentTo)
  • NANDO:2201193 (https://orcid.org/0000-0003-0011-764X)
  • MEDGEN:924303 (MONDO:equivalentTo)
  • OMIM:256150 (Orphanet:87876/btnt)
  • SCTID:70528007 (MONDO:directSiblingOf)
  • NCIT:C61267 (MONDO:directSiblingOf)
  • SCTID:52186006 (MONDO:equivalentTo)
  • GARD:7183 (MONDO:GARD)
  • OMIM:256550 (Orphanet:87876/e)
  • NANDO:1200118 (https://orcid.org/0000-0003-0011-764X)
  • UMLS:C4282398 (MONDO:equivalentTo)
Subsets

ordo_disorder, gard_rare, otar, rare, nord_rare, orphanet_rare

IAO 0000233

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

https://github.com/monarch-initiative/mondo/issues/4948

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

exactMatch

http://identifiers.org/mesh/C562606

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

http://identifiers.org/snomedct/52186006

http://identifiers.org/snomedct/81896006

http://identifiers.org/medgen/924303

https://omim.org/entry/256550

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

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

https://omim.org/entry/256150

http://linkedlifedata.com/resource/umls/id/C4282398

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0005328

http://purl.obolibrary.org/obo/MONDO_0015159

http://purl.obolibrary.org/obo/MONDO_0005381

http://purl.obolibrary.org/obo/MONDO_0019743

has broad synonym

sialidosis

has related synonym

mucolipidosis type 1

Neu deficiency

glycoprotein neuraminidase deficiency

Neu1 deficiency

lipomucopolysaccharidosis

Neug deficiency

sialidase deficiency

glycoproteinosis

sialidosis, type 1

ML1

NEU 1 deficiency

neuraminidase deficiency

ML 1

sialidosis, type II

mucolipidosis 1

cherry Red spot--myoclonus syndrome

myoclonus--cherry Red spot syndrome

neuraminidase 1 deficiency

id

MONDO:0009738