DiseaseID 5084
Rett综合征
disease
Atypical Rett syndrome (atypical RTT) is a neurodevelopmental disorder that is diagnosed when a child presents with a Rett-like syndrome but does not fulfill all the diagnostic criteria for typical Re
Relationship Network
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Disease: 1Experiment: 1Formula: 7Symptom: 12Target: 24Links: 44
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 5084
- Core Entity Id
- 61528
- Source Entity Count
- 1
- Preferred Name
- Rett Syndrome
- Name Cn
- Rett综合征
- Name Pinyin
- Rett Zong He Zheng
- Name En
- Rett Syndrome
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesMental Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesNervous System Diseases
- Do Class
- disease of anatomical entitydisease of mental health
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental DisordersNervous System Diseases
- Hpo Class Name
- Do Class Name
- disease of anatomical entitydisease of mental health
- Disease Definition
- Atypical Rett syndrome (atypical RTT) is a neurodevelopmental disorder that is diagnosed when a child presents with a Rett-like syndrome but does not fulfill all the diagnostic criteria for typical Re
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Rett Syndrome
Role
preferred
Name
Atypical Rett Syndrome
Role
preferred
Name
Epileptic Encephalopathy, Early Infantile, 2
Role
preferred
Name
Rett Syndrome, Preserved Speech Variant
Role
preferred
Name
Rett Syndrome, Zappella Variant
Role
preferred
Name
FOXG1 syndrome
Role
preferred
Name
Rett Syndrome, Atypical
Role
preferred
Name
AUTISM, DEMENTIA, ATAXIA, AND LOSS OF PURPOSEFUL HAND USE
Role
alias
Name
Atypical RTT
Role
alias
Name
EIEE2
Role
alias
Name
Early Infantile Epileptic Encephalopathy 2
Role
alias
Name
INFANTILE SPASM SYNDROME, X-LINKED 2
Role
alias
Name
ISSX2
Role
alias
Name
RTS
Role
alias
Name
RTT
Role
alias
Name
Rett Syndrome Variant
Role
alias
Name
Rett Syndrome, Congenital Variant
Role
alias
Name
Rett'S Syndrome
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS002630HBDIS015749HBDIS015750HBDIS019520HBDIS019784HBDIS020665
Me Sh
D015518
Omim
300672312750613454
Umls
C0035372C1839332C1839333C2677682C2748910
Icd10
F84.2
Med Dra
10039000
Sym Map
SMDE01409SMDE01493SMDE03557SMDE12860SMDE12861
Do Class
DOID:150DOID:7
Dis Ge Net
C0035372C1839332C1839333C2677682C2748910C3150705
Orphanet
3095778
Umls Sty
T047
Me Sh Class
C10C16F03
Etcm Disease
Epileptic Encephalopathy, Early Infantile, 2
Tcmbank Disease
1602324447248093087363607250
Itcmdb Generated
ITX-DISEASE-F917938C865B
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2v2
Suppress
0
Page Title
Disease Epileptic Encephalopathy, Early Infantile, 2 Details page
Do Class Name
disease of anatomical entitydisease of mental health
Disease Type
disease
Do Disease Class
disease of anatomical entitydisease of mental health
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Epileptic Encephalopathy, Early Infantile, 2
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Bone diseases;Ear diseases;Eye diseases;Gastrointestinal Diseases;Liver diseases;Mental diseases;Nephrological diseases;Neuronal diseases;Oral diseases
Disease Definition
Atypical Rett syndrome (atypical RTT) is a neurodevelopmental disorder that is diagnosed when a child presents with a Rett-like syndrome but does not fulfill all the diagnostic criteria for typical ReRett syndrome (RTT) is a severe neurodevelopmental disorder affecting the central nervous system.
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesMental Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesNervous System Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental DisordersNervous System Diseases
Umls Semantic Type Name
Disease or Syndrome