DiseaseID 16523

近端肾小管酸中毒伴眼部异常和智力低下

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: 1Symptom: 4Target: 1Links: 5
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Record Fields

Scalar fields from the final disease record.

Disease Id
16523
Core Entity Id
74612
Source Entity Count
1
Preferred Name
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Name Cn
近端肾小管酸中毒伴眼部异常和智力低下
Name Pinyin
Jin Duan Shen Xiao Guan Suan Zhong Du Ban Yan Bu Yi Chang He Zhi Li Di Xia
Name En
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Name Latin
Bilingual Status
complete
Disease Type
disease
Umls Disease Type
Disease or Syndrome
Disgenet Type
disease
Mesh Class
Mental Disorders; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms; Eye Diseases; Male Urogenital Diseases; Pathological Conditions, Signs and Symptoms
Do Class
Hpo Class
Mesh Class Name
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
Hpo Class Name
Do Class Name
Disease Definition
Version
v1,v2
Suppressed
No

Names

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

Name
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Role
preferred
Name
RTA, PROXIMAL, AUTOSOMAL RECESSIVE
Role
alias

Cross References

Trusted external identifiers retained for this final record.

Herb
HBDIS018836
Omim
604278
Umls
C1970309
Sym Map
SMDE03151
Dis Ge Net
C1970309
Umls Sty
T047
Me Sh Class
C10C11C12C13C16C18C23F01F03
Tcmbank Disease
30592

Attributes

Merged source attributes and domain-specific metadata.

Version
v1,v2
Suppress
0
Disease Type
disease
Umls Disease Type
Disease or Syndrome
Me Sh Disease Class
Mental Disorders; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms; Eye Diseases; Male Urogenital Diseases; Pathological Conditions, Signs and Symptoms
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
Umls Semantic Type Name
Disease or Syndrome