Medical Subject Headings

Last uploaded: November 5, 2019
Preferred Name

Sialic Acid Storage Disease

Synonyms

Sialic Acid Storage Disease, Finnish Type

Definitions

Autosomal recessive neurodegenerative disorders caused by lysosomal membrane transport defects that result in accumulation of free sialic acid (N-ACETYLNEURAMINIC ACID) within the lysosomes. The two main clinical phenotypes, which are allelic variants of the SLC17A5 gene, are ISSD, a severe infantile form, or Salla disease, a slowly progressive adult form, named for the geographic area in Finland where the kindred first studied resided.

ID

http://purl.bioontology.org/ontology/MESH/D029461

altLabel

Sialic Acid Storage Disease, Finnish Type

Infantile Form Sialuria

Infantile Sialic Acid Storage Disorder (ISSD)

Finnish Type Sialuria

Salla Disease

Sialurias, Finnish Type

Infantile Sialic Acid Storage Disease

Sialuria

Sialuria, Infantile Form

Sialurias, Infantile Form

Infantile Form Sialurias

Sialurias

French Type Sialuria

Finnish Type Sialurias

Infantile Sialic Acid Storage Disorder

Sialic Acid Storage Disease, Infantile Form

Sialuria, Finnish Type

AQL

BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI

cui

C0342853

C1096903

C1096902

DC

1

definition

Autosomal recessive neurodegenerative disorders caused by lysosomal membrane transport defects that result in accumulation of free sialic acid (N-ACETYLNEURAMINIC ACID) within the lysosomes. The two main clinical phenotypes, which are allelic variants of the SLC17A5 gene, are ISSD, a severe infantile form, or Salla disease, a slowly progressive adult form, named for the geographic area in Finland where the kindred first studied resided.

DX

20020101

HN

2002

Inverse of AQ

http://purl.bioontology.org/ontology/MESH/Q000401

http://purl.bioontology.org/ontology/MESH/Q000150

http://purl.bioontology.org/ontology/MESH/Q000188

http://purl.bioontology.org/ontology/MESH/Q000517

http://purl.bioontology.org/ontology/MESH/Q000201

http://purl.bioontology.org/ontology/MESH/Q000145

http://purl.bioontology.org/ontology/MESH/Q000503

http://purl.bioontology.org/ontology/MESH/Q000453

http://purl.bioontology.org/ontology/MESH/Q000208

http://purl.bioontology.org/ontology/MESH/Q000134

http://purl.bioontology.org/ontology/MESH/Q000821

http://purl.bioontology.org/ontology/MESH/Q000382

http://purl.bioontology.org/ontology/MESH/Q000601

http://purl.bioontology.org/ontology/MESH/Q000235

http://purl.bioontology.org/ontology/MESH/Q000523

http://purl.bioontology.org/ontology/MESH/Q000276

http://purl.bioontology.org/ontology/MESH/Q000191

http://purl.bioontology.org/ontology/MESH/Q000652

http://purl.bioontology.org/ontology/MESH/Q000662

http://purl.bioontology.org/ontology/MESH/Q000628

http://purl.bioontology.org/ontology/MESH/Q000196

http://purl.bioontology.org/ontology/MESH/Q000534

http://purl.bioontology.org/ontology/MESH/Q000266

http://purl.bioontology.org/ontology/MESH/Q000532

http://purl.bioontology.org/ontology/MESH/Q000139

http://purl.bioontology.org/ontology/MESH/Q000378

http://purl.bioontology.org/ontology/MESH/Q000175

http://purl.bioontology.org/ontology/MESH/Q000000981

http://purl.bioontology.org/ontology/MESH/Q000097

http://purl.bioontology.org/ontology/MESH/Q000473

http://purl.bioontology.org/ontology/MESH/Q000451

http://purl.bioontology.org/ontology/MESH/Q000209

http://purl.bioontology.org/ontology/MESH/Q000178

http://purl.bioontology.org/ontology/MESH/Q000469

Inverse of SIB

http://purl.bioontology.org/ontology/MESH/D009081

http://purl.bioontology.org/ontology/MESH/D005645

http://purl.bioontology.org/ontology/MESH/D006009

http://purl.bioontology.org/ontology/MESH/D013106

Machine permutation

2002

Mapped from

http://purl.bioontology.org/ontology/MESH/C537332

http://purl.bioontology.org/ontology/MESH/C538523

http://purl.bioontology.org/ontology/MESH/C535525

MDA

20010725

MMR

20130708

MN

C16.320.565.189.435.810

C18.452.648.189.435.810

C16.320.565.595.554.810

C10.228.140.163.100.435.810

C18.452.132.100.435.810

C18.452.648.595.554.810

notation

D029461

prefLabel

Sialic Acid Storage Disease

TERMUI

T443770

T443769

T443775

T812522

T443774

T443772

T443773

T823986

T842454

T443768

T443771

TH

NLM (2013)

NLM (2002)

ORD (2010)

OMIM (2013)

GHR (2014)

tui

T047

subClassOf

http://purl.bioontology.org/ontology/MESH/D020140

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/OMIM/604369 Online Mendelian Inheritance in Man CUI
http://purl.bioontology.org/ontology/OMIM/604322 Online Mendelian Inheritance in Man CUI
http://purl.bioontology.org/ontology/OMIM/604322 Online Mendelian Inheritance in Man CUI
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85067 National Cancer Institute Thesaurus LOOM
http://purl.bioontology.org/ontology/OMIM/603824 Online Mendelian Inheritance in Man CUI
http://purl.bioontology.org/ontology/OMIM/269920 Online Mendelian Inheritance in Man CUI
http://purl.bioontology.org/ontology/OMIM/269921 Online Mendelian Inheritance in Man CUI