DiseaseID 28723
费茨西蒙斯综合征
Fitzsimmons Syndrome
JABL99:Mental retardation with spasticity of the lower limbs (spastic paraplegia), pes cavus deformity with abnormal gait, and hyperkeratosis palmaris et plantaris.
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Disease: 1Symptom: 2Target: 1Links: 3
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 28723
- Core Entity Id
- 121291
- Source Entity Count
- 1
- Preferred Name
- Fitzsimmons Syndrome
- Name Cn
- 费茨西蒙斯综合征
- Name Pinyin
- Fei Ci Xi Meng Si Zong He Zheng
- Name En
- Fitzsimmons Syndrome
- 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:Mental retardation with spasticity of the lower limbs (spastic paraplegia), pes cavus deformity with abnormal gait, and hyperkeratosis palmaris et plantaris.
- Version
- v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Fitzsimmons Syndrome
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Omim
309560
Umls
C2745996
Sym Map
SMDE08770
Itcmdb Generated
ITX-DISEASE-FBAF60AAE34F
Attributes
Merged source attributes and domain-specific metadata.
Version
v2
Suppress
0
Disease Definition
JABL99:Mental retardation with spasticity of the lower limbs (spastic paraplegia), pes cavus deformity with abnormal gait, and hyperkeratosis palmaris et plantaris.