DiseaseID 15374

Kaufman眼脑面综合征

disease

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Disease: 1Formula: 5Symptom: 5Target: 19Links: 34
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Record Fields

Scalar fields from the final disease record.

Disease Id
15374
Core Entity Id
73300
Source Entity Count
1
Preferred Name
Kaufman Oculocerebrofacial Syndrome
Name Cn
Kaufman眼脑面综合征
Name Pinyin
Kaufman Yan Nao Mian Zong He Zheng
Name En
Kaufman Oculocerebrofacial Syndrome
Name Latin
Bilingual Status
complete
Disease Type
disease
Umls Disease Type
Disease or Syndrome
Disgenet Type
disease
Mesh Class
Mental Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Behavior and Behavior Mechanisms; Eye Diseases; Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
Do Class
disease of mental health; genetic disease
Hpo Class
Mesh Class Name
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
Hpo Class Name
Do Class Name
genetic disease; disease of mental health
Disease Definition
Version
v1,v2
Suppressed
No

Names

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

Name
Kaufman Oculocerebrofacial Syndrome
Role
preferred
Name
BLEPHAROPHIMOSIS-PTOSIS-INTELLECTUAL DISABILITY SYNDROME
Role
alias
Name
BPIDS
Role
alias
Name
KOS
Role
alias

Cross References

Trusted external identifiers retained for this final record.

Herb
HBDIS017192
Omim
244450
Umls
C1855663
Sym Map
SMDE04392
Do Class
DOID:150DOID:630
Dis Ge Net
C1855663
Umls Sty
T047
Me Sh Class
C05C10C11C16C23F01F03
Etcm Disease
Kaufman Oculocerebrofacial Syndrome
Tcmbank Disease
8571
Itcmdb Generated
ITX-DISEASE-348886C4B078

Attributes

Merged source attributes and domain-specific metadata.

Version
v1,v2
Suppress
0
Page Title
Disease Kaufman Oculocerebrofacial Syndrome Details page
Do Class Name
genetic disease; disease of mental health
Disease Type
disease
Do Disease Class
disease of mental health; genetic disease
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Kaufman Oculocerebrofacial Syndrome
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Eye diseases;Mental diseases;Neuronal diseases
Me Sh Disease Class
Mental Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Behavior and Behavior Mechanisms; Eye Diseases; Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
Umls Semantic Type Name
Disease or Syndrome