DiseaseID 1021
葡萄膜视网膜缺损
disease
NCI2016_02D:An abnormality in which a part of a structure in one or both eyes is missing.|MSH2017_2016_08_12:Congenital anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal
Relationship Network
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Disease: 1Herb: 2Symptom: 4Target: 24Links: 30
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 1021
- Core Entity Id
- 1155
- Source Entity Count
- 1
- Preferred Name
- Uveoretinal Coloboma
- Name Cn
- 葡萄膜视网膜缺损
- Name Pinyin
- Pu Tao Mo Shi Wang Mo Que Sun
- Name En
- Uveoretinal Coloboma
- 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
- NCI2016_02D:An abnormality in which a part of a structure in one or both eyes is missing.|MSH2017_2016_08_12:Congenital anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation.|HPO2016_07_04:A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa. [HPO:probinson]
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Uveoretinal Coloboma
Role
preferred
Name
Coloboma, Ocular, Autosomal Recessive
Role
preferred
Name
Congenital Ocular Coloboma (Disorder)
Role
preferred
Name
Congenital Coloboma of Iris
Role
preferred
Name
Hereditary Macular Coloboma
Role
preferred
Name
Coloboma
Role
alias
Name
Coloboma of Iris
Role
alias
Name
Coloboma of Iris, Choroid, And Retina
Role
alias
Name
Coloboma of Macula
Role
alias
Name
Coloboma, Ocular, Autosomal Dominant
Role
alias
Name
Coloboma, Uveoretinal
Role
alias
Name
Macular Coloboma
Role
alias
Name
Notched Pupil
Role
alias
Name
Ocular Coloboma
Role
alias
Name
Ocular Colobomas
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0000589HP:0001116
Herb
HBDIS000618HBDIS006025HBDIS016895HBDIS027479HBDIS029553
Me Sh
D003103
Omim
120200120300216820
Umls
C0009363C4011974
Icd10
Q13.0
Sym Map
SMDE03658SMDE07480
Do Class
DOID:7
Dis Ge Net
C0009363C0266551C1852767C4011974C4554007
Umls Sty
T019T047
Hpo Class
HP:0000478
Me Sh Class
C11C16
Etcm Disease
Coloboma, Ocular, Autosomal Recessive
Tcmbank Disease
10717168402525425360
Itcmdb Generated
ITX-DISEASE-97B27CE4CBFE
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v2
Suppress
0
Page Title
Disease Coloboma, Ocular, Autosomal Recessive 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 AbnormalityDisease or Syndrome
Basic Information
Disease Name
Coloboma, Ocular, Autosomal Recessive
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Eye diseases;Neuronal diseases
Disease Definition
NCI2016_02D:An abnormality in which a part of a structure in one or both eyes is missing.|MSH2017_2016_08_12:Congenital anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation.|HPO2016_07_04:A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa. [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