DiseaseID 15097
晶状体异位
disease
Isolated ectopia lentis (IEL) is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity.
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Disease: 1Formula: 24Herb: 12Symptom: 6Target: 22Links: 66
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 15097
- Core Entity Id
- 72981
- Source Entity Count
- 1
- Preferred Name
- Ectopia Lentis
- Name Cn
- 晶状体异位
- Name Pinyin
- Jing Zhuang Ti Yi Wei
- Name En
- Ectopia Lentis
- 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 AbnormalitiesEye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Pathological Conditions, Signs and Symptoms
- Do Class
- disease of anatomical entitydisease of anatomical entity; genetic disease
- Hpo Class
- Abnormality of the eye
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
- Hpo Class Name
- Abnormality of the eye
- Do Class Name
- disease of anatomical entitygenetic disease; disease of anatomical entity
- Disease Definition
- Isolated ectopia lentis (IEL) is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Ectopia Lentis
Role
preferred
Name
Ectopia Lentis 1, Isolated, Autosomal Dominant
Role
preferred
Name
Ectopia Lentis 2, Isolated, Autosomal Recessive
Role
preferred
Name
Ectopia Lentis Isolated
Role
preferred
Name
Familial Ectopia Lentis
Role
preferred
Name
Isolated Ectopia Lentis
Role
preferred
Name
Ectopia Lentis With Ectopia of Pupil
Role
preferred
Name
Abnormality of Lens Position
Role
alias
Name
Autosomal Dominant Isolated Ectopia Lentis 1
Role
alias
Name
Autosomal Recessive Isolated Ectopia Lentis 2
Role
alias
Name
Congenital Displaced Lens
Role
alias
Name
ECTOL1
Role
alias
Name
ECTOL2
Role
alias
Name
Ectopia Lentis Et Pupillae
Role
alias
Name
Ectopia Lentis Syndrome
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0001083
Herb
HBDIS000883HBDIS014682HBDIS016788HBDIS019741HBDIS021644HBDIS021646
Me Sh
D004479
Omim
129600225100225200
Umls
C0013581C1851286C2746069C3541474C3541518
Icd10
Q12.1
Med Dra
10014145
Sym Map
SMDE00527SMDE01469SMDE03619SMDE08151SMDE08152SMDE08635
Do Class
DOID:630DOID:7
Dis Ge Net
C0013581C1644196C1851286C2746069C3541474C3541518
Orphanet
1885
Umls Sty
T019T047
Hpo Class
HP:0000478
Me Sh Class
C10C11C16C23
Etcm Disease
Ectopia Lentis 1, Isolated, Autosomal DominantEctopia Lentis 2, Isolated, Autosomal RecessiveIsolated Ectopia Lentis
Tcmbank Disease
112324112264563722631838
Itcmdb Generated
ITX-DISEASE-01F6D9C03C61ITX-DISEASE-037B976D68B3ITX-DISEASE-694298780C6FITX-DISEASE-7455E6540F8E
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v2
Suppress
0
Page Title
Disease Ectopia Lentis 1, Isolated, Autosomal Dominant Details pageDisease Ectopia Lentis 2, Isolated, Autosomal Recessive Details pageDisease Isolated Ectopia Lentis Details page
Do Class Name
disease of anatomical entitygenetic disease; disease of anatomical entity
Disease Type
disease
Hpo Class Name
Abnormality of the eye
Do Disease Class
disease of anatomical entitydisease of anatomical entity; genetic disease
Hpo Disease Class
Abnormality of the eye
Umls Disease Type
Congenital AbnormalityDisease or Syndrome
Basic Information
Disease Name
Ectopia Lentis 1, Isolated, Autosomal Dominant
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Eye diseases
Disease Name
Ectopia Lentis 2, Isolated, Autosomal Recessive
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Eye diseases
Disease Name
Isolated Ectopia Lentis
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Eye diseases
Disease Definition
Isolated ectopia lentis (IEL) is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity.NCI2016_02D:Partial or complete displacement of the crystalline lens from its normal position in the eye.|MSH2017_2016_08_12:Congenital displacement of the lens resulting from defective zonule formation.|HPO2016_07_04:Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation. [HPO:probinson]
Me Sh Disease Class
Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesEye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Pathological Conditions, Signs and Symptoms
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
Umls Semantic Type Name
Congenital AbnormalityDisease or Syndrome