DiseaseID 30771
SymMap疾病SMDE13084
SymMap Disease SMDE13084
NCI2016_02D:A very rare congenital syndrome characterized by hypoplasia of the optic nerve, impaired vision, absence of the septum pellucidum and hypopituitarism.|MSH2017_2016_08_12:A condition resulting from congenital
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Disease: 1Symptom: 8Target: 12Links: 20
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 30771
- Core Entity Id
- 123339
- Source Entity Count
- 1
- Preferred Name
- SMDE13084
- Name Cn
- SymMap疾病SMDE13084
- Name Pinyin
- Symmap Ji Bing Smde13084
- Name En
- SymMap Disease SMDE13084
- Name Latin
- Bilingual Status
- complete
- Disease Type
- Umls Disease Type
- Disgenet Type
- Mesh Class
- Do Class
- Hpo Class
- Mesh Class Name
- Hpo Class Name
- Do Class Name
- Disease Definition
- NCI2016_02D:A very rare congenital syndrome characterized by hypoplasia of the optic nerve, impaired vision, absence of the septum pellucidum and hypopituitarism.|MSH2017_2016_08_12:A condition resulting from congenital malformations involving the brain. The syndrome of septo-optic dysplasia combines hypoplasia or agenesis of the SEPTUM PELLUCIDUM and the OPTIC NERVE. The extent of the abnormalities can vary. Septo-optic dysplasia is often associated with abnormalities of the hypothalamic and other diencephalic structures, and HYPOPITUITARISM.|HPO2016_07_04:Underdevelopment of the optic nerve and absence of the septum pellucidum. [HPO:sdoelken]
- Version
- v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
SMDE13084
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Sym Map
SMDE13084
Attributes
Merged source attributes and domain-specific metadata.
Version
v2
Suppress
0
Disease Definition
NCI2016_02D:A very rare congenital syndrome characterized by hypoplasia of the optic nerve, impaired vision, absence of the septum pellucidum and hypopituitarism.|MSH2017_2016_08_12:A condition resulting from congenital malformations involving the brain. The syndrome of septo-optic dysplasia combines hypoplasia or agenesis of the SEPTUM PELLUCIDUM and the OPTIC NERVE. The extent of the abnormalities can vary. Septo-optic dysplasia is often associated with abnormalities of the hypothalamic and other diencephalic structures, and HYPOPITUITARISM.|HPO2016_07_04:Underdevelopment of the optic nerve and absence of the septum pellucidum. [HPO:sdoelken]