DiseaseID 11215
詹森综合征
disease
JABL99:Neural deafness, dystonia, and possible mental impairment.|JABL99:A syndrome of deafness, visual impairment leading to blindness, dystonia, multiple fractures, and mental retardation without other clinical manifes
Relationship Network
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Disease: 1Formula: 1Symptom: 5Target: 17Links: 30
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 11215
- Core Entity Id
- 68577
- Source Entity Count
- 1
- Preferred Name
- Jensen Syndrome
- Name Cn
- 詹森综合征
- Name Pinyin
- Zhan Sen Zong He Zheng
- Name En
- Jensen Syndrome
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Mental Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Behavior and Behavior Mechanisms; Eye Diseases; Pathological Conditions, Signs and Symptoms; Otorhinolaryngologic DiseasesMental Disorders; Nervous System Diseases; Eye Diseases; Pathological Conditions, Signs and Symptoms; Otorhinolaryngologic Diseases
- Do Class
- genetic disease; disease of metabolism
- Hpo Class
- Mesh Class Name
- Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior MechanismsPathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases
- Hpo Class Name
- Do Class Name
- disease of metabolism; genetic disease
- Disease Definition
- JABL99:Neural deafness, dystonia, and possible mental impairment.|JABL99:A syndrome of deafness, visual impairment leading to blindness, dystonia, multiple fractures, and mental retardation without other clinical manifestations.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Jensen Syndrome
Role
preferred
Name
Mohr-Tranebjaerg Syndrome
Role
preferred
Name
Opticoacoustic Nerve Atrophy With Dementia
Role
preferred
Name
DDP
Role
alias
Name
DDS
Role
alias
Name
DEAFNESS SYNDROME, PROGRESSIVE, WITH BLINDNESS, DYSTONIA, FRACTURES, AND MENTAL DEFICIENCY
Role
alias
Name
DEAFNESS-DYSTONIA-OPTIC ATROPHY SYNDROME
Role
alias
Name
DYSTONIA-DEAFNESS SYNDROME
Role
alias
Name
Deafness-Dystonia-Optic Neuronopathy Syndrome
Role
alias
Name
MTS
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS011686HBDIS015768
Omim
304700311150
Umls
C0796074C1839564
Sym Map
SMDE02343SMDE02699SMDE10118
Do Class
DOID:0014667DOID:630
Dis Ge Net
C0796074C1839564
Umls Sty
T047
Me Sh Class
C09C10C11C16C23F01F03
Etcm Disease
Mohr-Tranebjaerg Syndrome
Tcmbank Disease
256836902
Itcmdb Generated
ITX-DISEASE-4D0592DE5588ITX-DISEASE-9A93AE65C2D8ITX-DISEASE-F449A9AE8C7A
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2v2
Suppress
0
Page Title
Disease Mohr-Tranebjaerg Syndrome Details page
Do Class Name
disease of metabolism; genetic disease
Disease Type
disease
Do Disease Class
genetic disease; disease of metabolism
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Mohr-Tranebjaerg Syndrome
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Ear diseases;Eye diseases;Neuronal diseases
Disease Definition
JABL99:Neural deafness, dystonia, and possible mental impairment.|JABL99:A syndrome of deafness, visual impairment leading to blindness, dystonia, multiple fractures, and mental retardation without other clinical manifestations.
Me Sh Disease Class
Mental Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Behavior and Behavior Mechanisms; Eye Diseases; Pathological Conditions, Signs and Symptoms; Otorhinolaryngologic DiseasesMental Disorders; Nervous System Diseases; 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; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior MechanismsPathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases
Umls Semantic Type Name
Disease or Syndrome