DiseaseID 6348
Behr综合征
disease
SNOMEDCT_US_2016_09_01:Behr syndrome includes an optic atrophy associated with neurological manifestations. This syndrome is clinically similar to Costeff syndrome but can be distinguished by the absence of metabolic abn
Relationship Network
Interactive first-hop connections across herbs, ingredients, formulas, targets, diseases, symptoms, syndromes, evidence, and monographs.
Click a node to open it in a new tab
Disease: 1Formula: 5Symptom: 5Target: 17Links: 34
Arranging relationship network...
Record Fields
Scalar fields from the final disease record.
- Disease Id
- 6348
- Core Entity Id
- 62985
- Source Entity Count
- 1
- Preferred Name
- Behr Syndrome
- Name Cn
- Behr综合征
- Name Pinyin
- Behr Zong He Zheng
- Name En
- Behr Syndrome
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Mental Disorders; Nervous System Diseases; Behavior and Behavior Mechanisms; Eye Diseases; Pathological Conditions, Signs and Symptoms; Otorhinolaryngologic Diseases
- Do Class
- Hpo Class
- Mesh Class Name
- Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms
- Hpo Class Name
- Do Class Name
- Disease Definition
- SNOMEDCT_US_2016_09_01:Behr syndrome includes an optic atrophy associated with neurological manifestations. This syndrome is clinically similar to Costeff syndrome but can be distinguished by the absence of metabolic abnormalities. This inherited disorder is transmitted following an autosomal recessive pattern. The optic atrophy is responsible for a moderate to severe visual impairment that appears early in life. The neurological manifestations can include myoclonic epilepsy, progressive spastic paraplegia due to pyramidal tract involvement, dysarthria, extra-pyramidal tract signs, ataxia, urinary incontinence, mental retardation, posterior column sensory loss or muscle contractures.|JABL99:Ataxia, optic atrophy, neurologic signs, mental retardation, spinocerebellar degeneration, and visual disorders.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Behr Syndrome
Role
preferred
Name
BEHRS
Role
alias
Name
OPTIC ATROPHY, INFANTILE HEREDITARY, WITH NEUROLOGIC ABNORMALITIES
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS004573
Omim
210000
Umls
C0221061
Sym Map
SMDE02826
Dis Ge Net
C0221061
Orphanet
1239
Umls Sty
T047
Me Sh Class
C09C10C11C23F01F03
Etcm Disease
Behr Syndrome
Tcmbank Disease
11466
Itcmdb Generated
ITX-DISEASE-C77111BBCF2D
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Page Title
Disease Behr Syndrome Details page
Disease Type
disease
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Behr Syndrome
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Eye diseases;Mental diseases;Neuronal diseases
Disease Definition
SNOMEDCT_US_2016_09_01:Behr syndrome includes an optic atrophy associated with neurological manifestations. This syndrome is clinically similar to Costeff syndrome but can be distinguished by the absence of metabolic abnormalities. This inherited disorder is transmitted following an autosomal recessive pattern. The optic atrophy is responsible for a moderate to severe visual impairment that appears early in life. The neurological manifestations can include myoclonic epilepsy, progressive spastic paraplegia due to pyramidal tract involvement, dysarthria, extra-pyramidal tract signs, ataxia, urinary incontinence, mental retardation, posterior column sensory loss or muscle contractures.|JABL99:Ataxia, optic atrophy, neurologic signs, mental retardation, spinocerebellar degeneration, and visual disorders.
Me Sh Disease Class
Mental Disorders; Nervous System Diseases; Behavior and Behavior Mechanisms; Eye Diseases; Pathological Conditions, Signs and Symptoms; Otorhinolaryngologic Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms
Umls Semantic Type Name
Disease or Syndrome