DiseaseID 945
脑穿通畸形
disease
MSH2017_2016_08_12:Cortical malformations characterized by white matter-lined cleft or cyst associated with ISCHEMIA and hemorrhagic insults. Symptoms include delayed growth and development, HYPOTONIA; SEIZURES; SPASTIC
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Disease: 1Symptom: 9Target: 12Links: 21
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 945
- Core Entity Id
- 1069
- Source Entity Count
- 1
- Preferred Name
- Porencephaly
- Name Cn
- 脑穿通畸形
- Name Pinyin
- Nao Chuan Tong Ji Xing
- Name En
- Porencephaly
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Acquired Abnormality
- Disgenet Type
- disease
- Mesh Class
- Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Pathological Conditions, Signs and SymptomsCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Musculoskeletal Diseases
- Do Class
- disease of anatomical entitydisease of anatomical entity; genetic disease
- Hpo Class
- Abnormality of the nervous system
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
- Hpo Class Name
- Abnormality of the nervous system
- Do Class Name
- disease of anatomical entitygenetic disease; disease of anatomical entity
- Disease Definition
- MSH2017_2016_08_12:Cortical malformations characterized by white matter-lined cleft or cyst associated with ISCHEMIA and hemorrhagic insults. Symptoms include delayed growth and development, HYPOTONIA; SEIZURES; SPASTIC HEMIPLEGIA and MACROCEPHALY; MICROCEPHALY; or HYDROCEPHALUS. Mutations in the genes encoding COLLAGEN TYPE IV are associated with familial types.|HPO2016_07_04:A disorder of the brain in which a cyst or cavity filled with cerebrospinal fluid develops in the cerebral hemisphere. [HPO:probinson]
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Porencephaly
Role
preferred
Name
Brain Small Vessel Disease With Axenfeld Rieger Anomaly
Role
preferred
Name
Brain Small Vessel Disease With Hemorrhage
Role
preferred
Name
Brain Small Vessel Disease With Or Without Ocular Anomalies
Role
preferred
Name
Congenital Porencephaly
Role
preferred
Name
Familial Vascular Leukoencephalopathy
Role
preferred
Name
Porencephaly 2
Role
preferred
Name
Porencephaly, Post-Traumatic
Role
preferred
Name
Schizencephaly
Role
preferred
Name
Brain Small Vessel Disease With Axenfeld-Rieger Anomaly
Role
preferred
Name
Developmental Porencephaly
Role
preferred
Name
PORENCEPHALY, FAMILIAL
Role
preferred
Name
Porencephaly, Type 1, Autosomal Dominant
Role
preferred
Name
Post-Traumatic Porencephaly
Role
preferred
Name
BSVD
Role
alias
Name
Col4A1-Related Familial Vascular Leukoencephalopathy
Role
alias
Name
Familial Porencephaly
Role
alias
Name
INFANTILE HEMIPARESIS
Role
alias
Name
LEUKOENCEPHALOPATHY WITH AXENFELD-RIEGER ANOMALY
Role
alias
Name
POREN2
Role
alias
Name
Porencephaly 1
Role
alias
Name
Porencephaly, Congenital
Role
alias
Name
RETINAL ARTERIOLAR TORTUOSITY, INFANTILE HEMIPARESIS, AND LEUKOENCEPHALOPATHY, AUTOSOMAL DOMINANT
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0010636
Herb
HBDIS006010HBDIS007310HBDIS016040HBDIS018410HBDIS019403HBDIS020147HBDIS021364HBDIS022050HBDIS022989HBDIS025522HBDIS025527HBDIS027381
Me Sh
D065707D065708
Omim
175780269160607595614483
Umls
C0266484C0302892C1843512C2675650C2930808C3280970C3698507C4013035C4082173
Icd10
Q04.6
Sym Map
SMDE01412SMDE04791SMDE05006SMDE06586SMDE06587SMDE07484SMDE08657SMDE12313SMDE12314
Do Class
DOID:630DOID:7
Dis Ge Net
C0266484C0302892C1843512C1867983C2675650C2930808C3280970C3698507C4013035C4082173C4082301C4551998
Orphanet
799
Umls Sty
T019T020T047
Hpo Class
HP:0000707
Me Sh Class
C05C10C14C16C23
Tcmbank Disease
103681240313696158772023620388207622994240295366545356369889
Itcmdb Generated
ITX-DISEASE-204A260B99AAITX-DISEASE-4FA4509CA799ITX-DISEASE-87C7776BAD23ITX-DISEASE-BE6A5F37255B
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2v2
Suppress
0
Do Class Name
disease of anatomical entitygenetic disease; disease of anatomical entity
Disease Type
diseasephenotype
Hpo Class Name
Abnormality of the nervous system
Do Disease Class
disease of anatomical entitydisease of anatomical entity; genetic disease
Hpo Disease Class
Abnormality of the nervous system
Umls Disease Type
Acquired AbnormalityCongenital AbnormalityDisease or Syndrome
Disease Definition
MSH2017_2016_08_12:Cortical malformations characterized by white matter-lined cleft or cyst associated with ISCHEMIA and hemorrhagic insults. Symptoms include delayed growth and development, HYPOTONIA; SEIZURES; SPASTIC HEMIPLEGIA and MACROCEPHALY; MICROCEPHALY; or HYDROCEPHALUS. Mutations in the genes encoding COLLAGEN TYPE IV are associated with familial types.|HPO2016_07_04:A disorder of the brain in which a cyst or cavity filled with cerebrospinal fluid develops in the cerebral hemisphere. [HPO:probinson]Schizencephaly is a rare congenital cerebral malformation characterized by the presence of linear clefts in one or both hemispheres of the brain, extending from the lateral ventricles to the pial surf
Me Sh Disease Class
Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Pathological Conditions, Signs and SymptomsCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Musculoskeletal Diseases
Dis Ge Net Disease Type
diseasephenotype
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
Umls Semantic Type Name
Acquired AbnormalityCongenital AbnormalityDisease or Syndrome