DiseaseID 18600
晶状体缺损
disease
Uveal coloboma-cleft lip and palate-intellectual disability is characterised by coloboma of the iris, bilateral cleft lip and palate, and intellectual deficiency of varying degree. A wide variability
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Disease: 1Symptom: 7Target: 18Links: 31
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 18600
- Core Entity Id
- 77023
- Source Entity Count
- 1
- Preferred Name
- Coloboma of Lens
- Name Cn
- 晶状体缺损
- Name Pinyin
- Jing Zhuang Ti Que Sun
- Name En
- Coloboma of Lens
- 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 AbnormalitiesMental Disorders; Female Urogenital Diseases and Pregnancy Complications; Stomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Behavior and Behavior Mechanisms; Eye Diseases; Male Urogenital Diseases; Pathological Conditions, Signs and Symptoms; Otorhinolaryngologic Diseases; Musculoskeletal Diseases
- Do Class
- 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; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms
- Hpo Class Name
- Abnormality of the eye
- Do Class Name
- genetic disease
- Disease Definition
- Uveal coloboma-cleft lip and palate-intellectual disability is characterised by coloboma of the iris, bilateral cleft lip and palate, and intellectual deficiency of varying degree. A wide variability
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Coloboma of Lens
Role
preferred
Name
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Role
preferred
Name
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Role
preferred
Name
Coloboma, Cleft Lip-Palate And Mental Retardation Syndrome
Role
preferred
Name
COB1
Role
alias
Name
Lens Coloboma
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0100719
Herb
HBDIS008221HBDIS011650HBDIS022179
Omim
120433
Umls
C0795902C3805432
Icd10
Q12.2
Sym Map
SMDE00786SMDE03385
Do Class
DOID:630
Dis Ge Net
C0344516C0795902C3805432
Orphanet
1473
Umls Sty
T019T047
Hpo Class
HP:0000478
Me Sh Class
C05C07C09C10C11C12C13C16C23F01F03
Etcm Disease
Coloboma, Ocular, with or Without Hearing Impairment, Cleft Lip/palate, and/or Mental Retardation
Tcmbank Disease
29229319469120
Itcmdb Generated
ITX-DISEASE-58EFF854F474
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Page Title
Disease Coloboma, Ocular, with or Without Hearing Impairment, Cleft Lip/palate, and/or Mental Retardation Details page
Do Class Name
genetic disease
Disease Type
disease
Hpo Class Name
Abnormality of the eye
Do Disease Class
genetic disease
Hpo Disease Class
Abnormality of the eye
Umls Disease Type
Congenital AbnormalityDisease or Syndrome
Basic Information
Disease Name
Coloboma, Ocular, with or Without Hearing Impairment, Cleft Lip/palate, and/or Mental Retardation
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Eye diseases;Mental diseases;Neuronal diseases
Disease Definition
Uveal coloboma-cleft lip and palate-intellectual disability is characterised by coloboma of the iris, bilateral cleft lip and palate, and intellectual deficiency of varying degree. A wide variability
Me Sh Disease Class
Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesMental Disorders; Female Urogenital Diseases and Pregnancy Complications; Stomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Behavior and Behavior Mechanisms; Eye Diseases; Male Urogenital Diseases; Pathological Conditions, Signs and Symptoms; Otorhinolaryngologic Diseases; Musculoskeletal Diseases
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; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms
Umls Semantic Type Name
Congenital AbnormalityDisease or Syndrome