DiseaseID 6104

艾卡迪综合征

disease

NCI2016_02D:A sporadic genetic syndrome characterized by agenesis of the corpus callosum, infantile spasms, and chorioretinal lacunae. It is associated with the presence of choroid plexus neoplasms in the brain.|MSH2017_

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Disease: 1Symptom: 6Target: 7Links: 13
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Record Fields

Scalar fields from the final disease record.

Disease Id
6104
Core Entity Id
62708
Source Entity Count
1
Preferred Name
Aicardi'S Syndrome
Name Cn
艾卡迪综合征
Name Pinyin
Ai Ka Di Zong He Zheng
Name En
Aicardi'S Syndrome
Name Latin
Bilingual Status
complete
Disease Type
disease
Umls Disease Type
Disease or Syndrome
Disgenet Type
disease
Mesh Class
Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Do Class
syndrome
Hpo Class
Mesh Class Name
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
Hpo Class Name
Do Class Name
syndrome
Disease Definition
NCI2016_02D:A sporadic genetic syndrome characterized by agenesis of the corpus callosum, infantile spasms, and chorioretinal lacunae. It is associated with the presence of choroid plexus neoplasms in the brain.|MSH2017_2016_08_12:A rare genetic disorder characterized by partial or complete absence of the CORPUS CALLOSUM, resulting in infantile spasms, MENTAL RETARDATION, and lesions of the RETINA or OPTIC NERVE.|JABL99:A syndrome of infantile spasms, typical bowing of the head (salaam seizures), chorioretinopathy, retarded mental and motor development, agenesis of the corpus callosum, and costovertebral anomalies.
Version
v2
Suppressed
No

Names

Preferred names, aliases, and source labels retained in the final schema.

Name
Aicardi'S Syndrome
Role
preferred
Name
Aicardi Syndrome
Role
alias
Name
Syndrome, Aicardi'S
Role
alias

Cross References

Trusted external identifiers retained for this final record.

Herb
HBDIS004190
Me Sh
D058540
Umls
C0175713
Sym Map
SMDE05648
Do Class
DOID:225
Dis Ge Net
C0175713
Umls Sty
T047
Me Sh Class
C10C11C16
Tcmbank Disease
15315

Attributes

Merged source attributes and domain-specific metadata.

Version
v2
Suppress
0
Do Class Name
syndrome
Disease Type
disease
Do Disease Class
syndrome
Umls Disease Type
Disease or Syndrome
Disease Definition
NCI2016_02D:A sporadic genetic syndrome characterized by agenesis of the corpus callosum, infantile spasms, and chorioretinal lacunae. It is associated with the presence of choroid plexus neoplasms in the brain.|MSH2017_2016_08_12:A rare genetic disorder characterized by partial or complete absence of the CORPUS CALLOSUM, resulting in infantile spasms, MENTAL RETARDATION, and lesions of the RETINA or OPTIC NERVE.|JABL99:A syndrome of infantile spasms, typical bowing of the head (salaam seizures), chorioretinopathy, retarded mental and motor development, agenesis of the corpus callosum, and costovertebral anomalies.
Me Sh Disease Class
Eye Diseases; 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; Eye Diseases; Nervous System Diseases
Umls Semantic Type Name
Disease or Syndrome