DiseaseID 9818
皮质发育不良
disease
NCI2016_02D:A group of neural cortical developmental malformations of diverse genetic causes. Clinical manifestations include epilepsy and developmental delays.|MSH2017_2016_08_12:Abnormalities in the development of the
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Disease: 1Symptom: 3Target: 12Links: 15
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 9818
- Core Entity Id
- 66942
- Source Entity Count
- 1
- Preferred Name
- Cortical Dysplasia
- Name Cn
- 皮质发育不良
- Name Pinyin
- Pi Zhi Fa Yu Bu Liang
- Name En
- Cortical Dysplasia
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Congenital Abnormality
- Disgenet Type
- disease
- Mesh Class
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
- Do Class
- Hpo Class
- Abnormality of the nervous system
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
- Hpo Class Name
- Abnormality of the nervous system
- Do Class Name
- Disease Definition
- NCI2016_02D:A group of neural cortical developmental malformations of diverse genetic causes. Clinical manifestations include epilepsy and developmental delays.|MSH2017_2016_08_12:Abnormalities in the development of the CEREBRAL CORTEX. These include malformations arising from abnormal neuronal and glial CELL PROLIFERATION or APOPTOSIS (Group I); abnormal neuronal migration (Group II); and abnormal establishment of cortical organization (Group III). Many INBORN METABOLIC BRAIN DISORDERS affecting CNS formation are often associated with cortical malformations. They are common causes of EPILEPSY and developmental delay.
- Version
- v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Cortical Dysplasia
Role
preferred
Name
Malformations Of Cortical Development
Role
preferred
Name
Neocortical Dysplasia
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0002539
Herb
HBDIS009333HBDIS018565
Me Sh
D054220
Umls
C1955869
Sym Map
SMDE10660
Dis Ge Net
C0431380C1955869
Umls Sty
T019T047
Hpo Class
HP:0000707
Me Sh Class
C10C16
Tcmbank Disease
125841686920480
Itcmdb Generated
ITX-DISEASE-1BEB97A4BFAAITX-DISEASE-42CA4F81E621
Attributes
Merged source attributes and domain-specific metadata.
Version
v2
Suppress
0
Disease Type
disease
Hpo Class Name
Abnormality of the nervous system
Hpo Disease Class
Abnormality of the nervous system
Umls Disease Type
Congenital AbnormalityDisease or Syndrome
Disease Definition
NCI2016_02D:A group of neural cortical developmental malformations of diverse genetic causes. Clinical manifestations include epilepsy and developmental delays.|MSH2017_2016_08_12:Abnormalities in the development of the CEREBRAL CORTEX. These include malformations arising from abnormal neuronal and glial CELL PROLIFERATION or APOPTOSIS (Group I); abnormal neuronal migration (Group II); and abnormal establishment of cortical organization (Group III). Many INBORN METABOLIC BRAIN DISORDERS affecting CNS formation are often associated with cortical malformations. They are common causes of EPILEPSY and developmental delay.
Me Sh Disease Class
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; Nervous System Diseases
Umls Semantic Type Name
Congenital AbnormalityDisease or Syndrome