DiseaseID 14354
普列托X连锁智力低下综合征
disease
JABL99:Mental retardation syndrome with facial abnormalities, subcortical cerebral atrophy, defective tooth development, skin dimples at the lower back, lower limb defects, clinodactyly, luxation of the patella, and eye
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Disease: 1Symptom: 1Target: 4Links: 5
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 14354
- Core Entity Id
- 72128
- Source Entity Count
- 1
- Preferred Name
- Prieto X-Linked Mental Retardation Syndrome
- Name Cn
- 普列托X连锁智力低下综合征
- Name Pinyin
- Pu Lie Tuo X Lian Suo Zhi Li Di Xia Zong He Zheng
- Name En
- Prieto X-Linked Mental Retardation Syndrome
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Musculoskeletal Diseases
- Do Class
- disease of mental health; genetic disease
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
- Hpo Class Name
- Do Class Name
- genetic disease; disease of mental health
- Disease Definition
- JABL99:Mental retardation syndrome with facial abnormalities, subcortical cerebral atrophy, defective tooth development, skin dimples at the lower back, lower limb defects, clinodactyly, luxation of the patella, and eye abnormalities.
- Version
- v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Prieto X-Linked Mental Retardation Syndrome
Role
preferred
Name
Prieto Syndrome
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS015781
Umls
C1839730
Sym Map
SMDE12431
Do Class
DOID:150DOID:630
Dis Ge Net
C1839730
Umls Sty
T047
Me Sh Class
C05C10C16
Tcmbank Disease
15135
Attributes
Merged source attributes and domain-specific metadata.
Version
v2
Suppress
0
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
Disease Definition
JABL99:Mental retardation syndrome with facial abnormalities, subcortical cerebral atrophy, defective tooth development, skin dimples at the lower back, lower limb defects, clinodactyly, luxation of the patella, and eye abnormalities.
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Musculoskeletal Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
Umls Semantic Type Name
Disease or Syndrome