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 |
Inverse of SIB |
http://purl.bioontology.org/ontology/MESH/D009081 http://purl.bioontology.org/ontology/MESH/D005645 |
Machine permutation |
2002 |
Mapped from |
http://purl.bioontology.org/ontology/MESH/C537332 |
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 |