DiseaseID 3328

无眼球

disease

NCI2016_02D:A rare congenital abnormality characterized by the complete absence of ocular tissue in the orbit.|MSH2017_2016_08_12:Congenital absence of the eye or eyes.|HPO2016_07_04:Absence of the globe or eyeball. [DDD

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Disease: 1Symptom: 1Target: 12Links: 13
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Record Fields

Scalar fields from the final disease record.

Disease Id
3328
Core Entity Id
59521
Source Entity Count
1
Preferred Name
Anophthalmos
Name Cn
无眼球
Name Pinyin
Wu Yan Qiu
Name En
Anophthalmos
Name Latin
Bilingual Status
complete
Disease Type
disease
Umls Disease Type
Congenital Abnormality
Disgenet Type
disease
Mesh Class
Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Do Class
Hpo Class
Abnormality of the eye
Mesh Class Name
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
Hpo Class Name
Abnormality of the eye
Do Class Name
Disease Definition
NCI2016_02D:A rare congenital abnormality characterized by the complete absence of ocular tissue in the orbit.|MSH2017_2016_08_12:Congenital absence of the eye or eyes.|HPO2016_07_04:Absence of the globe or eyeball. [DDD:ncarter]
Version
v2
Suppressed
No

Names

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

Name
Anophthalmos
Role
preferred
Name
Absence of Eyeballs
Role
alias
Name
Absence of Globes of Eyes
Role
alias
Name
Anophthalmia
Role
alias
Name
Anophthalmia, Clinical
Role
alias
Name
Clinical Anophthalmia, Unilateral/Bilateral
Role
alias
Name
Failure of Development of Eyeball
Role
alias
Name
Missing Eyeball
Role
alias
Name
Missing Globe of Eye
Role
alias
Name
No Eyeball
Role
alias
Name
No Globe of Eye
Role
alias
Name
Ocular Absence
Role
alias

Cross References

Trusted external identifiers retained for this final record.

Hpo
HP:0000528
Herb
HBDIS000187
Me Sh
D000853
Umls
C0003119
Icd10
Q11.1
Sym Map
SMDE05932
Dis Ge Net
C0003119
Umls Sty
T019
Hpo Class
HP:0000478
Me Sh Class
C11C16
Tcmbank Disease
22140

Attributes

Merged source attributes and domain-specific metadata.

Version
v2
Suppress
0
Disease Type
disease
Hpo Class Name
Abnormality of the eye
Hpo Disease Class
Abnormality of the eye
Umls Disease Type
Congenital Abnormality
Disease Definition
NCI2016_02D:A rare congenital abnormality characterized by the complete absence of ocular tissue in the orbit.|MSH2017_2016_08_12:Congenital absence of the eye or eyes.|HPO2016_07_04:Absence of the globe or eyeball. [DDD:ncarter]
Me Sh Disease Class
Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
Umls Semantic Type Name
Congenital Abnormality