galactosialidosis

rare disease
rdfs:label
"galactosialidosis"@en
skos:altLabel
"Cathepsin A deficiency of"@en
"Cathepsin a Deficiency"@en
"GALACTOSIALIDOSIS"@en
"GALACTOSIALIDOSIS; GSL"@en
"GSL"@en
"Goldberg Syndrome"@en
"Lysosomal Protective Protein Deficiency"@en
"Lysosomal protective protein deficiency of"@en
"Neuraminidase Deficiency With Beta-Galactosidase Deficiency"@en
"Neuraminidase/Beta-Galactosidase Expression"@en
"Ppca Deficiency"@en
"Protective Protein/Cathepsin a Deficiency"@en
schema:description
"rare disease"@en
schema:dateModified "2026-10-24T00:10:25+00:00"^^xsd:dateTime
schema:version 2560163140
wikibase:identifiers 16
19
wikibase:sitelinks 11
wikibase:statements 45
p:P11143 wd:statement/Q1491661-051EA055-2016-44FC-93B9-1D4F304D4AE2
p:P11430 wd:statement/Q1491661-13032e88-4b51-2d87-b3c5-b44eb63e8eed
p:P14914 wd:statement/Q1491661-3BD55EC6-2278-44DB-A817-3B2AB7F2BDD8
p:P1550 wd:statement/Q1491661-4236617b-4971-aa1f-bce1-dd7b00d0764f
p:P1692 wd:statement/Q1491661-F346343D-8006-4AA7-9C03-D95B5DB907B3
p:P1748 wd:statement/Q1491661-37b70f13-4f7d-1393-4859-20153a41fc9d
p:P1995 wd:statement/Q1491661-9B2662B3-20B5-4870-A2F1-7D6265AA34E6
p:P227 wd:statement/Q1491661-19900FFE-146D-4FFA-8ADB-3B36FE2D5778
p:P2293 wd:statement/Q1491661-69D68B9C-3C95-4448-8BC7-8EC4C1D477A1
p:P279 wd:statement/Q1491661-24A01EC4-74BB-41DA-9680-368F79355368
wd:statement/Q1491661-414ACAE2-CE37-4123-9065-9DAD41F4BD69
wd:statement/Q1491661-50E92247-4C5A-480F-ACD9-A2C988193F2A
wd:statement/Q1491661-5412E464-3519-4241-B0CC-B808F0697D31
wd:statement/Q1491661-580F8A4A-C859-478D-A17C-5E09706F78C5
wd:statement/Q1491661-89579641-7447-4D78-B909-3FEAEB7947AB
wd:statement/Q1491661-A10FD8DB-C0BC-4150-AF9F-880697F9289E
wd:statement/Q1491661-BA8A4E83-9497-4603-85A7-6BD226EAA391
wd:statement/Q1491661-E1A2907C-6617-4B60-BB20-423D9C47F7EA
wd:statement/Q1491661-c1d71cd7-463b-a423-3478-88b81d7f8c2f
p:P2841 wd:statement/Q1491661-65CD20CD-60BB-48DD-9916-A1FD3BD446D3
p:P2888 wd:statement/Q1491661-66CDCFB7-4175-4959-B3D4-849382AAA40F
wd:statement/Q1491661-AC9BB755-1673-49E9-8BFD-B21E0F9A2238
wd:statement/Q1491661-B7DDC5AF-FC00-4AC8-B9B9-5DFBC52C1F98
p:P2892 wd:statement/Q1491661-7C3C0CC2-F284-4892-B712-8A702B07DBC8
p:P31 wd:statement/Q1491661-BFC20146-2C6B-4A4C-8303-D8A0D31A3823
wd:statement/Q1491661-C38153F2-37BC-4431-9001-819366C45B9F
p:P373 wd:statement/Q1491661-ebd7d4d8-d9f5-4c44-9f18-83731a1f4030
p:P4229 wd:statement/Q1491661-6B3F5A4C-5D74-4AAC-BD90-F56B5F91D7B9
p:P4317 wd:statement/Q1491661-C899D948-9E2D-465C-B541-7752BE402EA3
p:P486 wd:statement/Q1491661-bca96c03-46f3-4ac5-1d3d-52c849fb82a0
p:P492 wd:statement/q1491661-9B105D92-BA1A-4346-A23D-0EAC47D1A3BD
p:P494 wd:statement/q1491661-2A934920-6137-48E9-A2DC-78BC2DEF3110
p:P5008 wd:statement/Q1491661-32D11CB0-DE00-46AD-A83C-53D5A136FA60
p:P5270 wd:statement/Q1491661-BA18F6F9-D3C0-431F-86D5-07218027A788
p:P557 wd:statement/q1491661-5B442C8D-A685-4ABB-AC4D-6ABE0D4855CD
p:P6366 wd:statement/Q1491661-2EE0D146-DA90-4FBF-BF29-80CB2DC0C3E6
p:P6532 wd:statement/Q1491661-064FBC88-870E-4DBC-81D3-799AAEE646D4
wd:statement/Q1491661-32A498B8-9605-4C80-AA6C-11B6E3A690D6
wd:statement/Q1491661-B0141FF9-067A-47B0-8D4D-589C5FF00DEA
wd:statement/Q1491661-E4D212BC-125B-4679-9D7A-8937BB64DA26
wd:statement/Q1491661-FF296A74-E622-475D-9BA8-50C7E7DC8A4D
p:P665 wd:statement/Q1491661-A353CC90-7D58-4E4D-9D18-18E10A7DDF2B
p:P699 wd:statement/Q1491661-358DCC60-A7FA-4986-AAE1-C0DD65FCB875
p:P7464 wd:statement/Q1491661-D9C372B4-FEB3-4D90-BE6B-9BE030A40CD4
p:P7807 wd:statement/Q1491661-69d70108-4927-206e-1f3b-27d69c8b9ec9
p:direct-normalized/P227 <https://d-nb.info/gnd/1272181510>
p:direct-normalized/P486 <http://id.nlm.nih.gov/mesh/C536411>
p:direct-normalized/P5270 <http://purl.obolibrary.org/obo/MONDO_0009737>
p:direct-normalized/P6366 <https://makg.org/entity/2779971728>
p:direct-normalized/P665 <http://www.kegg.jp/entry/H00276>
p:direct-normalized/P699 <http://purl.obolibrary.org/obo/DOID_DOID:0080540>
wdt:P11143 "Galactosialidosis"
wdt:P11430 "DI-01644"
wdt:P14914 "D00351"
wdt:P1550 "351"
wdt:P1692 "277.6"
wdt:P1748 "C129928"
wdt:P1995 endocrinology
wdt:P227 "1272181510"
wdt:P2293 CTSA
wdt:P279 neurometabolic disease
rare genetic developmental defect during embryogenesis
oligosaccharidosis
lysosomal storage disease with skeletal involvement
unclassified primitive or secondary maculopathy
metabolic disease with corneal opacity
metabolic disease with macular cherry-red spot
wdt:P2841 any age
wdt:P2888 <http://identifiers.org/doid/DOID:0080540>
<http://purl.obolibrary.org/obo/DOID_0080540>
<http://www.orpha.net/ORDO/Orphanet_351>
wdt:P2892 "C0268233"
wdt:P31 type of disease
rare disease
wdt:P373 "Galactosialidosis"
wdt:P4229 "E77.1"
wdt:P4317 "3953"
wdt:P486 "C536411"
wdt:P492 "256540"
wdt:P494 "E77.1"
wdt:P5008 WikiProject Medicine
wdt:P5270 "MONDO_0009737"
wdt:P557 "33441"
wdt:P6366 "2779971728"
wdt:P6532 deafness
Hepatosplenomegaly
corneal opacity
coarse facial features
seizure
wdt:P665 "H00276"
wdt:P699 "DOID:0080540"
wdt:P7464 "galactosialidosis"
wdt:P7807 "1838660035"
Download as:
TurtleJSON-LDRDF/XML
data from SPARQL profile: Wikidata