JSON

sialidosis type 2

^ 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 ]

Term info

database cross reference
  • MESH:C562606 (MONDO:equivalentTo)
  • Orphanet:812 (OMIM:256550)
  • UMLS:CN206285 (MONDO:equivalentTo)
  • SCTID:52186006 (MONDO:equivalentTo)
  • UMLS:C0023806 (OMIM:256550)
  • OMIM:256150 (Orphanet:87876/btnt)
  • OMIM:256550 (Orphanet:87876/e)
  • UMLS:C0268232 (OMIM:256150)
  • SCTID:70528007 (MONDO:directSiblingOf)
  • UMLS:C0026697 (MONDO:directSiblingOf)
  • DOID:3343 (MONDO:equivalentTo)
  • SCTID:81896006 (MONDO:equivalentTo)
  • NCIT:C125596 (MONDO:equivalentTo)
  • NCIT:C61267 (MONDO:directSiblingOf)
  • Orphanet:87876 (OMIM:256550)
  • GARD:0007183 (MONDO:equivalentTo)
  • UMLS:C3888317 (Orphanet:87876)
Subsets

ordo_disease

abbreviation
ML1 [ GARD:0007183 ]

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

definition

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/snomedct/52186006, http://purl.obolibrary.org/obo/DOID_3343, http://identifiers.org/snomedct/81896006, https://omim.org/entry/256550, http://purl.obolibrary.org/obo/NCIT_C125596, https://omim.org/entry/256150, http://linkedlifedata.com/resource/umls/id/C3888317, http://linkedlifedata.com/resource/umls/id/CN206285, http://linkedlifedata.com/resource/umls/id/C0268232, http://purl.obolibrary.org/obo/Orphanet_87876

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 exact synonym

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

has related synonym

mucolipidosis type 1, Neu deficiency, glycoprotein neuraminidase deficiency, Neu1 deficiency, lipomucopolysaccharidosis, Neug deficiency, sialidase deficiency, sialidosis, type 1, glycoproteinosis, ML1, ML 1, NEU 1 deficiency, neuraminidase deficiency, sialidosis, type II, mucolipidosis 1, cherry Red spot--myoclonus syndrome, myoclonus--cherry Red spot syndrome, neuraminidase 1 deficiency

id

MONDO:0009738