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.