DiseaseID 14688

X连锁肌酸缺乏症

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
14688
Core Entity Id
72514
Source Entity Count
1
Preferred Name
Creatine Deficiency, X-Linked
Name Cn
X连锁肌酸缺乏症
Name Pinyin
X Lian Suo Ji Suan Que Fa Zheng
Name En
Creatine Deficiency, X-Linked
Name Latin
Bilingual Status
complete
Disease Type
disease
Umls Disease Type
Disease or Syndrome
Disgenet Type
disease
Mesh Class
Nervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Do Class
genetic disease; disease of metabolism
Hpo Class
Mesh Class Name
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
Hpo Class Name
Do Class Name
disease of metabolism; genetic disease
Disease Definition
Version
Suppressed

Names

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

Name
Creatine Deficiency, X-Linked
Role
preferred
Name
Cerebral Creatine Deficiency Syndrome 1
Role
alias
Name
Creatine Transporter Defect
Role
alias
Name
Creatine Transporter Deficiency
Role
alias

Cross References

Trusted external identifiers retained for this final record.

Herb
HBDIS016248
Omim
300352
Do Class
DOID:0014667DOID:630
Dis Ge Net
C1845862
Umls Sty
T047
Me Sh Class
C10C16C18
Tcmbank Disease
26244

Attributes

Merged source attributes and domain-specific metadata.

Do Class Name
disease of metabolism; genetic disease
Disease Type
disease
Do Disease Class
genetic disease; disease of metabolism
Umls Disease Type
Disease or Syndrome
Me Sh Disease Class
Nervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
Umls Semantic Type Name
Disease or Syndrome