DiseaseID 26796
萨拉病
Salla Disease
JABL99:An inborn disorder of N-acetylneuraminic (sialic) acid storage characterized mainly by massive excretion of free sialic acid, severe psychomotor deterioration, and ataxia. The term Salla disease denotes the Finnis
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Disease: 1Symptom: 12Target: 9Links: 21
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 26796
- Core Entity Id
- 119364
- Source Entity Count
- 1
- Preferred Name
- Salla Disease
- Name Cn
- 萨拉病
- Name Pinyin
- Sa La Bing
- Name En
- Salla Disease
- Name Latin
- Bilingual Status
- complete
- Disease Type
- Umls Disease Type
- Disgenet Type
- Mesh Class
- Do Class
- Hpo Class
- Mesh Class Name
- Hpo Class Name
- Do Class Name
- Disease Definition
- JABL99:An inborn disorder of N-acetylneuraminic (sialic) acid storage characterized mainly by massive excretion of free sialic acid, severe psychomotor deterioration, and ataxia. The term Salla disease denotes the Finnish type of sialic acid storage disease named for the geographic area where the kindred lived. The infantile form has no ethnic predilection and is associated with severe visceral involvement, dysostosis multiplex, psychomotor retardation, and early death. The Finnish type has onset at 12-18 months of age with deterioration in the second decade.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Salla Disease
Role
preferred
Source
SymMap_v2
Preferred
Yes
Cross References
Trusted external identifiers retained for this final record.
Umls
C1096903
Sym Map
SMDE05047
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Disease Definition
JABL99:An inborn disorder of N-acetylneuraminic (sialic) acid storage characterized mainly by massive excretion of free sialic acid, severe psychomotor deterioration, and ataxia. The term Salla disease denotes the Finnish type of sialic acid storage disease named for the geographic area where the kindred lived. The infantile form has no ethnic predilection and is associated with severe visceral involvement, dysostosis multiplex, psychomotor retardation, and early death. The Finnish type has onset at 12-18 months of age with deterioration in the second decade.