DiseaseID 9361
平衡失调综合征
disease
Dysequilibrium syndrome (DES) is a non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia.
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Disease: 1Herb: 1Symptom: 12Target: 24Links: 37
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 9361
- Core Entity Id
- 66426
- Source Entity Count
- 1
- Preferred Name
- Dysequilibrium Syndrome
- Name Cn
- 平衡失调综合征
- Name Pinyin
- Ping Heng Shi Tiao Zong He Zheng
- Name En
- Dysequilibrium Syndrome
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and SymptomsCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesNervous System Diseases
- Do Class
- disease of anatomical entity; genetic disease
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesNervous System DiseasesPathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
- Hpo Class Name
- Do Class Name
- genetic disease; disease of anatomical entity
- Disease Definition
- Dysequilibrium syndrome (DES) is a non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Dysequilibrium Syndrome
Role
preferred
Name
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Role
preferred
Name
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Role
preferred
Name
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Role
preferred
Name
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4
Role
preferred
Name
Boucher-Neuhauser Syndrome
Role
preferred
Name
Gordon Holmes Syndrome
Role
preferred
Name
SPINOCEREBELLAR ATAXIA 11
Role
preferred
Name
Spinocerebellar Ataxia Type 17
Role
preferred
Name
CAMRQ Syndrome
Role
alias
Name
CAMRQ1
Role
alias
Name
CAMRQ2
Role
alias
Name
CAMRQ3
Role
alias
Name
CAMRQ4
Role
alias
Name
CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1
Role
alias
Name
CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 2
Role
alias
Name
CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 3
Role
alias
Name
CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 4
Role
alias
Name
CEREBELLAR ATAXIA, CONGENITAL, AND MENTAL RETARDATION, AUTOSOMAL RECESSIVE
Role
alias
Name
CEREBELLAR HYPOPLASIA, VLDLR-ASSOCIATED
Role
alias
Name
Cerebellar Ataxia, Mental Retardation And Dysequlibrium Syndrome
Role
alias
Name
Cerebellar Ataxia-intellectual Disability-dysequilibrium Syndrome Syndrome
Role
alias
Name
DES
Role
alias
Name
Non-progressive Cerebellar Ataxia-intellectual Disability Syndrome
Role
alias
Name
Spinocerebellar Ataxia Type 11
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS008751HBDIS017531HBDIS019845HBDIS019873HBDIS022301HBDIS027232
Omim
224050604432605672613227615268
Umls
CC0394006C1846707C1858351C1859093C1859305C2750234C2750509C3808977
Icd10
G11.8
Med Dra
10013140
Sym Map
SMDE00671SMDE01454SMDE02498SMDE02686SMDE03554SMDE03868SMDE04191SMDE04227SMDE04766
Do Class
DOID:630DOID:7
Dis Ge Net
C0394006C1858351C2750234C2750509C3808977C4551552
Orphanet
1173118017669875998767
Umls Sty
T047
Me Sh Class
C10C16C23F01F03
Etcm Disease
Boucher-Neuhauser SyndromeCerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3Gordon Holmes Syndrome
Tcmbank Disease
118001473421616240782825430795
Itcmdb Generated
ITX-DISEASE-39181BD15167ITX-DISEASE-428619AB5B96ITX-DISEASE-699CAC250C5CITX-DISEASE-FB3DE009EE8B
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2
Suppress
0
Page Title
Disease Boucher-Neuhauser Syndrome Details pageDisease Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 Details pageDisease Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3 Details pageDisease Gordon Holmes Syndrome Details page
Do Class Name
genetic disease; disease of anatomical entity
Disease Type
disease
Do Disease Class
disease of anatomical entity; genetic disease
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Boucher-Neuhauser Syndrome
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Endocrine diseases;Eye diseases;Neuronal diseases;Reproductive diseases
Disease Name
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Mental diseases;Neuronal diseases
Disease Name
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Mental diseases;Neuronal diseases
Disease Name
Gordon Holmes Syndrome
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Endocrine diseases;Mental diseases;Neuronal diseases;Reproductive diseases
Disease Definition
Dysequilibrium syndrome (DES) is a non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia.JABL99:A nonprogressive childhood disorder characterized by a lack of equilibrium, brain dysfunction, retarded psychomotor development, hypotonia, and perceptual abnormalities. Major features are the postural abnormalities manifested by unilateral displacement and sensory disturbances in the form of altered perception. The patient usually complains of nausea, occasional vomiting, and dizziness occurring spontaneously or after change in the position of the head. A sensation that the eye si "swimming," impaired perception or colors, distorted perception of objects, and unsteady gait are the usual complaints. The syndrome was reported in Swedish and in Montana Hutterite patients. Not to be confused with a complication of hemodialysis or peritoneal dialysis which is termed "disequilibrium syndrome."SNOMEDCT_US_2016_09_01:A very rare autosomal recessive and slowly progressive neurodegenerative disorder with the triad of cerebellar ataxia that generally manifests at adolescence or early adulthood, chorioretinal dystrophy which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics).Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by a variable clinical picture which can inclu
Me Sh Disease Class
Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and SymptomsCongenital, 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 DiseasesNervous System DiseasesPathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
Umls Semantic Type Name
Disease or Syndrome