DiseaseID 13876

先天性白内障伴感音神经性耳聋、类唐氏综合征面容、身材矮小及智力低下

disease

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Relationship Network

Interactive first-hop connections across herbs, ingredients, formulas, targets, diseases, symptoms, syndromes, evidence, and monographs.

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Disease: 1Target: 1Links: 1
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Record Fields

Scalar fields from the final disease record.

Disease Id
13876
Core Entity Id
71580
Source Entity Count
1
Preferred Name
Cataracts, Congenital, With Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, And Mental Retardation
Name Cn
先天性白内障伴感音神经性耳聋、类唐氏综合征面容、身材矮小及智力低下
Name Pinyin
Xian Tian Xing Bai Nei Zhang Ban Gan Yin Shen Jing Xing Er Long 、 Lei Tang Shi Zong He Zheng Mian Rong 、 Shen Cai Ai Xiao Ji Zhi Li Di Xia
Name En
Cataracts, Congenital, With Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, And Mental Retardation
Name Latin
Bilingual Status
complete
Disease Type
disease
Umls Disease Type
Disease or Syndrome
Disgenet Type
disease
Mesh Class
Mental Disorders; Nervous System Diseases; Behavior and Behavior Mechanisms; Eye Diseases; Pathological Conditions, Signs and Symptoms; Otorhinolaryngologic Diseases
Do Class
Hpo Class
Mesh Class Name
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms
Hpo Class Name
Do Class Name
Disease Definition
Version
Suppressed

Names

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

Name
Cataracts, Congenital, With Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, And Mental Retardation
Role
preferred
Name
Ayme-Gripp Syndrome
Role
alias

Cross References

Trusted external identifiers retained for this final record.

Herb
HBDIS015112
Omim
601088
Dis Ge Net
C1832812
Umls Sty
T047
Me Sh Class
C09C10C11C23F01F03
Tcmbank Disease
18343

Attributes

Merged source attributes and domain-specific metadata.

Disease Type
disease
Umls Disease Type
Disease or Syndrome
Me Sh Disease Class
Mental Disorders; Nervous System Diseases; Behavior and Behavior Mechanisms; Eye Diseases; Pathological Conditions, Signs and Symptoms; Otorhinolaryngologic Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms
Umls Semantic Type Name
Disease or Syndrome