DiseaseID 13933

视神经发育不良

disease

NCI2016_02D:A congenital abnormality characterized by the underdevelopment of both optic nerves.

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Disease: 1Symptom: 3Target: 4Links: 7
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Record Fields

Scalar fields from the final disease record.

Disease Id
13933
Core Entity Id
71646
Source Entity Count
1
Preferred Name
Hypoplasia of The Optic Nerve
Name Cn
视神经发育不良
Name Pinyin
Shi Shen Jing Fa Yu Bu Liang
Name En
Hypoplasia of The Optic Nerve
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 DiseasesEye Diseases; Nervous System Diseases
Do Class
disease of anatomical entity; genetic disease
Hpo Class
Abnormality of the eye; Abnormality of the nervous system
Mesh Class Name
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System DiseasesEye Diseases; Nervous System Diseases
Hpo Class Name
Abnormality of the nervous system; Abnormality of the eye
Do Class Name
genetic disease; disease of anatomical entity
Disease Definition
NCI2016_02D:A congenital abnormality characterized by the underdevelopment of both optic nerves.
Version
v1,v2
Suppressed
No

Names

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

Name
Hypoplasia of The Optic Nerve
Role
preferred
Name
Optic Nerve Aplasia, Bilateral
Role
preferred
Name
Optic Nerve Hypoplasia, Bilateral
Role
preferred
Name
FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES
Role
preferred
Name
Bilateral Optic Nerve Hypoplasia
Role
alias
Name
Hypoplastic Optic Nerves
Role
alias
Name
Optic Nerve Hypoplasia
Role
alias
Name
Underdeveloped Optic Nerves
Role
alias

Cross References

Trusted external identifiers retained for this final record.

Hpo
HP:0000609
Herb
HBDIS007675HBDIS015203HBDIS015204HBDIS023463
Omim
165550
Umls
C1833797C1833798
Sym Map
SMDE02705SMDE11629
Do Class
DOID:630DOID:7
Dis Ge Net
C0338502C1833797C1833798C4017657
Umls Sty
T033T047
Hpo Class
HP:0000478HP:0000707
Me Sh Class
C10C11C16
Tcmbank Disease
29450522663117557
Itcmdb Generated
ITX-DISEASE-931A972715C2

Attributes

Merged source attributes and domain-specific metadata.

Version
v1,v2v2
Suppress
0
Do Class Name
genetic disease; disease of anatomical entity
Disease Type
disease
Hpo Class Name
Abnormality of the nervous system; Abnormality of the eye
Do Disease Class
disease of anatomical entity; genetic disease
Hpo Disease Class
Abnormality of the eye; Abnormality of the nervous system
Umls Disease Type
Disease or SyndromeFinding
Disease Definition
NCI2016_02D:A congenital abnormality characterized by the underdevelopment of both optic nerves.
Me Sh Disease Class
Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesEye Diseases; 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 DiseasesEye Diseases; Nervous System Diseases
Umls Semantic Type Name
Disease or SyndromeFinding