DiseaseID 4036
脆性X综合征
disease
Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features.
Relationship Network
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Disease: 1Experiment: 3Formula: 1Herb: 1Symptom: 5Target: 18Links: 34
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 4036
- Core Entity Id
- 60322
- Source Entity Count
- 1
- Preferred Name
- Fraxe Syndrome
- Name Cn
- 脆性X综合征
- Name Pinyin
- Cui Xing X Zong He Zheng
- Name En
- Fraxe Syndrome
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Congenital Abnormality
- Disgenet Type
- disease
- Mesh Class
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
- Do Class
- genetic disease
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
- Hpo Class Name
- Do Class Name
- genetic disease
- Disease Definition
- Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Fraxe Syndrome
Role
preferred
Name
FRAXA Syndrome
Role
preferred
Name
Fragile X Chromosome
Role
preferred
Name
Fragile X Syndrome
Role
preferred
Name
Fraxe Mental Retardation Syndrome
Role
alias
Name
Mental Retardation, X-Linked, Associated With Fragile Site Fraxe
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS001105HBDIS009467HBDIS011175HBDIS011176
Me Sh
D005600
Omim
300624309548
Umls
C0751156
Icd10
Q99.2
Med Dra
10017324
Sym Map
SMDE02585SMDE08845
Do Class
DOID:630
Dis Ge Net
C0016667C0432482C0751156C0751157
Orphanet
908
Umls Sty
T019T047
Me Sh Class
C10C16
Etcm Disease
Fragile X Syndrome
Tcmbank Disease
114841769234109561
Itcmdb Generated
ITX-DISEASE-9EF76CD7F44A
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2v2
Suppress
0
Page Title
Disease Fragile X Syndrome Details page
Do Class Name
genetic disease
Disease Type
disease
Do Disease Class
genetic disease
Umls Disease Type
Congenital AbnormalityDisease or Syndrome
Basic Information
Disease Name
Fragile X Syndrome
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Endocrine diseases;Eye diseases;Neuronal diseases;Reproductive diseases
Disease Definition
Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features.
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Umls Semantic Type Name
Congenital AbnormalityDisease or Syndrome