DiseaseID 14200
Crisponi综合征
disease
Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly.
Relationship Network
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Disease: 1Symptom: 12Target: 12Links: 24
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 14200
- Core Entity Id
- 71951
- Source Entity Count
- 1
- Preferred Name
- Crisponi Syndrome
- Name Cn
- Crisponi综合征
- Name Pinyin
- Crisponi Zong He Zheng
- Name En
- Crisponi 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; Skin and Connective Tissue Diseases; Pathological Conditions, Signs and Symptoms; Musculoskeletal DiseasesPathological Conditions, Signs and Symptoms
- Do Class
- syndrome; genetic disease
- Hpo Class
- Mesh Class Name
- Pathological Conditions, Signs and SymptomsPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases
- Hpo Class Name
- Do Class Name
- genetic disease; syndrome
- Disease Definition
- Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Crisponi Syndrome
Role
preferred
Name
Cold-Induced Sweating Syndrome 1
Role
preferred
Name
COLD-INDUCED SWEATING SYNDROME 2
Role
preferred
Name
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Role
preferred
Name
CISS1
Role
alias
Name
Cold-Induced Sweating Syndrome
Role
alias
Name
Crisponi/Cold-Induced Sweating Syndrome 1
Role
alias
Name
Crisponi/Cold-Induced Sweating Syndrome 2
Role
alias
Name
MUSCLE CONTRACTIONS, TETANOFORM, WITH CHARACTERISTIC FACE, CAMPTODACTYLY, HYPERTHERMIA, AND SUDDEN DEATH
Role
alias
Name
SOHAR-CRISPONI SYNDROME
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS015071HBDIS015559HBDIS016529HBDIS016920
Omim
272430601378608800610313
Umls
C1832409C1837371C1848947C1853198
Icd10
G90.8
Sym Map
SMDE01570SMDE02260SMDE02374SMDE03580
Do Class
DOID:225DOID:630
Dis Ge Net
C1832409C1837371C1848947C1853198
Orphanet
1545168593
Umls Sty
T047
Me Sh Class
C05C10C16C17C23
Tcmbank Disease
28830008321146753
Itcmdb Generated
ITX-DISEASE-28C6BD9A9DCE
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Do Class Name
genetic disease; syndrome
Disease Type
disease
Do Disease Class
syndrome; genetic disease
Umls Disease Type
Disease or Syndrome
Disease Definition
Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly.
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Skin and Connective Tissue Diseases; Pathological Conditions, Signs and Symptoms; Musculoskeletal DiseasesPathological Conditions, Signs and Symptoms
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Pathological Conditions, Signs and SymptomsPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases
Umls Semantic Type Name
Disease or Syndrome