DiseaseID 6326
X连锁Russell-Silver综合征
disease
JABL99:Mental retardation syndrome with episodic dystonic spasms of the hands and dysarthria.
Relationship Network
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Disease: 1Symptom: 5Target: 8Links: 13
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 6326
- Core Entity Id
- 62960
- Source Entity Count
- 1
- Preferred Name
- Russell-Silver Syndrome, X-Linked
- Name Cn
- X连锁Russell-Silver综合征
- Name Pinyin
- X Lian Suo Russell-silver Zong He Zheng
- Name En
- Russell-Silver Syndrome, X-Linked
- 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; Pathological Conditions, Signs and SymptomsMusculoskeletal Diseases; Skin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms
- 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; Nervous System DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
- Hpo Class Name
- Do Class Name
- genetic disease; disease of mental health
- Disease Definition
- JABL99:Mental retardation syndrome with episodic dystonic spasms of the hands and dysarthria.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Russell-Silver Syndrome, X-Linked
Role
preferred
Name
Partington X-Linked Mental Retardation Syndrome
Role
preferred
Name
MENTAL RETARDATION, X-LINKED 36
Role
alias
Name
MENTAL RETARDATION, X-LINKED, SYNDROMIC 1
Role
alias
Name
MENTAL RETARDATION, X-LINKED, WITH DYSTONIC MOVEMENTS, ATAXIA, AND SEIZURES
Role
alias
Name
MRX36
Role
alias
Name
MRXS1
Role
alias
Name
PARTINGTON SYNDROME
Role
alias
Name
PRTS
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS004531HBDIS011730
Omim
309510312780
Umls
C0796250
Sym Map
SMDE04498
Do Class
DOID:150DOID:630
Dis Ge Net
C0220775C0796250
Umls Sty
T047
Me Sh Class
C05C10C16C17C23
Tcmbank Disease
250007507
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,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 episodic dystonic spasms of the hands and dysarthria.
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Pathological Conditions, Signs and SymptomsMusculoskeletal Diseases; Skin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; 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; Nervous System DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
Umls Semantic Type Name
Disease or Syndrome