DiseaseID 6105
胼胝体发育不全
disease
NCI2016_02D:A congenital abnormality characterized by the complete absence of the corpus callosum. It may be an isolated abnormality or associated with other central nervous system abnormalities or syndromes. Clinical ma
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Disease: 1Symptom: 5Target: 12Links: 17
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 6105
- Core Entity Id
- 62709
- Source Entity Count
- 1
- Preferred Name
- Agenesis of Corpus Callosum
- Name Cn
- 胼胝体发育不全
- Name Pinyin
- Pian Zhi Ti Fa Yu Bu Quan
- Name En
- Agenesis of Corpus Callosum
- 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 DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Pathological Conditions, Signs and Symptoms
- Do Class
- Hpo Class
- Abnormality of the nervous system
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesPathological Conditions, Signs and Symptoms; 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 congenital abnormality characterized by the complete absence of the corpus callosum. It may be an isolated abnormality or associated with other central nervous system abnormalities or syndromes. Clinical manifestations vary. In cases of isolated corpus callosum agenesis, symptoms may be absent or minimal. In cases that are associated with other central nervous system abnormalities or syndromes, symptoms include developmental delays, motor coordination difficulties, and vision impairment.|MSH2017_2016_08_12:Birth defect that results in a partial or complete absence of the CORPUS CALLOSUM. It may be isolated or a part of a syndrome (e.g., AICARDI'S SYNDROME; ACROCALLOSAL SYNDROME; ANDERMANN SYNDROME; and HOLOPROSENCEPHALY). Clinical manifestations include neuromotor skill impairment and INTELLECTUAL DISABILITY of variable severity.|HPO2016_07_04:Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline. [HPO:curators]
- Version
- v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Agenesis of Corpus Callosum
Role
preferred
Name
Congenital Malformation of Corpus Callosum
Role
preferred
Name
Corpus Callosum Malformation
Role
preferred
Name
Absence of Corpus Callosum
Role
alias
Name
Absent Corpus Callosum
Role
alias
Name
Agenesis of The Corpus Callosum
Role
alias
Name
Callosal Agenesis
Role
alias
Name
Congenital Malformations of Corpus Callosum
Role
alias
Name
Corpus Callosum Agenesis
Role
alias
Name
Corpus Callosum, Agenesis Of
Role
alias
Name
Dysplastic Or Absent Corpus Callosum
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0001274
Herb
HBDIS004191HBDIS009324HBDIS020950
Me Sh
D061085
Omim
217990
Umls
C0175754
Icd10
Q04.0
Sym Map
SMDE05632
Dis Ge Net
C0175754C0431366C3179058
Umls Sty
T019
Hpo Class
HP:0000707
Me Sh Class
C10C16C23
Tcmbank Disease
23967279614832
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 Abnormality
Disease Definition
NCI2016_02D:A congenital abnormality characterized by the complete absence of the corpus callosum. It may be an isolated abnormality or associated with other central nervous system abnormalities or syndromes. Clinical manifestations vary. In cases of isolated corpus callosum agenesis, symptoms may be absent or minimal. In cases that are associated with other central nervous system abnormalities or syndromes, symptoms include developmental delays, motor coordination difficulties, and vision impairment.|MSH2017_2016_08_12:Birth defect that results in a partial or complete absence of the CORPUS CALLOSUM. It may be isolated or a part of a syndrome (e.g., AICARDI'S SYNDROME; ACROCALLOSAL SYNDROME; ANDERMANN SYNDROME; and HOLOPROSENCEPHALY). Clinical manifestations include neuromotor skill impairment and INTELLECTUAL DISABILITY of variable severity.|HPO2016_07_04:Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline. [HPO:curators]
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Pathological Conditions, Signs and Symptoms
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Umls Semantic Type Name
Congenital Abnormality