DiseaseID 3321
无虹膜
disease
Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris.
Relationship Network
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Disease: 1Formula: 5Herb: 12Symptom: 5Target: 23Links: 46
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 3321
- Core Entity Id
- 59513
- Source Entity Count
- 1
- Preferred Name
- Aniridia
- Name Cn
- 无虹膜
- Name Pinyin
- Wu Hong Mo
- Name En
- Aniridia
- 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
- disease of anatomical entity
- 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 of anatomical entity
- Disease Definition
- Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Aniridia
Role
preferred
Name
Aniridia 1
Role
preferred
Name
Isolated Aniridia
Role
preferred
Name
ANIRIDIA 3
Role
preferred
Name
Aniridia Type 2
Role
preferred
Name
CATARACTS, CONGENITAL, WITH LATE-ONSET CORNEAL DYSTROPHY
Role
preferred
Name
AN
Role
alias
Name
AN1
Role
alias
Name
AN2, FORMERLY
Role
alias
Name
ANIRIDIA II, FORMERLY
Role
alias
Name
Absence of Iris
Role
alias
Name
Absent Iris
Role
alias
Name
An2
Role
alias
Name
Aniridia 2
Role
alias
Name
Aniridia, Type 2
Role
alias
Name
CATARACT, CONGENITAL, WITH LATE-ONSET CORNEAL DYSTROPHY
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0000526
Herb
HBDIS000180HBDIS008231HBDIS022173HBDIS026270
Me Sh
D015783
Omim
106210617141617142
Umls
C0003076C3805349
Icd10
Q13.1
Sym Map
SMDE00940SMDE05151
Do Class
DOID:7
Dis Ge Net
C0003076C0344543C3805349C4310695
Orphanet
250923
Umls Sty
T019
Hpo Class
HP:0000478
Me Sh Class
C11C16
Etcm Disease
Aniridia 1Aniridia 3Isolated Aniridia
Tcmbank Disease
1463820752251134177
Itcmdb Generated
ITX-DISEASE-00FD6226C1D5ITX-DISEASE-3C1C1D808722ITX-DISEASE-8BD04519C02CITX-DISEASE-A4B58BD3A5E2
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2
Suppress
0
Page Title
Disease Aniridia 1 Details pageDisease Aniridia 3 Details pageDisease Isolated Aniridia Details page
Do Class Name
disease of anatomical entity
Disease Type
disease
Hpo Class Name
Abnormality of the eye
Do Disease Class
disease of anatomical entity
Hpo Disease Class
Abnormality of the eye
Umls Disease Type
Congenital Abnormality
Basic Information
Disease Name
Aniridia 1
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Eye diseases;Neuronal diseases
Disease Name
Aniridia 3
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Eye diseases;Neuronal diseases
Disease Name
Isolated Aniridia
Global Category
Fetal diseases;Rare diseases
Anatomical Category
Eye diseases
Disease Definition
Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris.NCI2016_02D:A rare genetic inherited abnormality characterized by the partial or complete absence of the iris of the eye.|MSH2017_2016_08_12:A congenital abnormality in which there is only a rudimentary iris. This is due to the failure of the optic cup to grow. Aniridia also occurs in a hereditary form, usually autosomal dominant.|HPO2016_07_04:Congenital absence of the iris. [HPO:probinson]
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