DiseaseID 3727
猫叫综合征
disease
NCI2016_02D:A genetic syndrome resulting from a partial deletion on the short arm of chromosome 5. It is characterized by a cat-like cry in infancy, microcephaly, mental retardation, growth failure, round face, hypertelo
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Disease: 1Formula: 1Herb: 1Symptom: 5Target: 19Links: 31
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 3727
- Core Entity Id
- 59967
- Source Entity Count
- 1
- Preferred Name
- Cri-Du-Chat Syndrome
- Name Cn
- 猫叫综合征
- Name Pinyin
- Mao Jiao Zong He Zheng
- Name En
- Cri-Du-Chat 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
- Do Class
- genetic disease
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
- Hpo Class Name
- Do Class Name
- genetic disease
- Disease Definition
- NCI2016_02D:A genetic syndrome resulting from a partial deletion on the short arm of chromosome 5. It is characterized by a cat-like cry in infancy, microcephaly, mental retardation, growth failure, round face, hypertelorism, and cardiac failure.|MSH2017_2016_08_12:An infantile syndrome characterized by a cat-like cry, failure to thrive, microcephaly, MENTAL RETARDATION, spastic quadriparesis, micro- and retrognathia, glossoptosis, bilateral epicanthus, hypertelorism, and tiny external genitalia. It is caused by a deletion of the short arm of chromosome 5 (5p-).|JABL99:Deletion of the short arm of chromosome 5 characterized by a variable clinical picture consisting of severe mental deficiency, growth retardation, multiple abnormalities and a peculiar crying sound resembling that of a suffering kitten (hence the synonym crying cat syndrome or cri du chat syndrome), that disappears within weeks or months after birth.|CSP2006:infantile syndrome characterized by a cat-like cry, failure to thrive, microcephaly, mental retardation, spastic quadriparesis, micro- and retrognathia, glossoptosis, bilateral epicanthus, hypertelorism, and tiny external genitalia; caused by a deletion of the short arm of chromosome 5.
- Version
- v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Cri-Du-Chat Syndrome
Role
preferred
Name
Deletion of Short Arm of Chromosome 5
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS000683
Me Sh
D003410
Omim
123450
Icd10
Q93.4
Sym Map
SMDE07630
Do Class
DOID:630
Dis Ge Net
C0010314
Umls Sty
T047
Me Sh Class
C10C16
Etcm Disease
Cri-Du-Chat Syndrome
Tcmbank Disease
11286
Itcmdb Generated
ITX-DISEASE-F730927C7388
Attributes
Merged source attributes and domain-specific metadata.
Version
v2
Suppress
0
Page Title
Disease Cri-Du-Chat Syndrome Details page
Do Class Name
genetic disease
Disease Type
disease
Do Disease Class
genetic disease
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Cri-Du-Chat Syndrome
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Eye diseases
Disease Definition
NCI2016_02D:A genetic syndrome resulting from a partial deletion on the short arm of chromosome 5. It is characterized by a cat-like cry in infancy, microcephaly, mental retardation, growth failure, round face, hypertelorism, and cardiac failure.|MSH2017_2016_08_12:An infantile syndrome characterized by a cat-like cry, failure to thrive, microcephaly, MENTAL RETARDATION, spastic quadriparesis, micro- and retrognathia, glossoptosis, bilateral epicanthus, hypertelorism, and tiny external genitalia. It is caused by a deletion of the short arm of chromosome 5 (5p-).|JABL99:Deletion of the short arm of chromosome 5 characterized by a variable clinical picture consisting of severe mental deficiency, growth retardation, multiple abnormalities and a peculiar crying sound resembling that of a suffering kitten (hence the synonym crying cat syndrome or cri du chat syndrome), that disappears within weeks or months after birth.|CSP2006:infantile syndrome characterized by a cat-like cry, failure to thrive, microcephaly, mental retardation, spastic quadriparesis, micro- and retrognathia, glossoptosis, bilateral epicanthus, hypertelorism, and tiny external genitalia; caused by a deletion of the short arm of chromosome 5.
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Umls Semantic Type Name
Disease or Syndrome