DiseaseID 7251
猫眼综合征
disease
NCI2016_02D:A rare genetic syndrome caused by abnormalities of chromosome 22. It is characterized by anal atresia with fistula formation, coloboma of the iris, down slanting palpebral fissures, and heart and kidney malfo
Relationship Network
Interactive first-hop connections across herbs, ingredients, formulas, targets, diseases, symptoms, syndromes, evidence, and monographs.
Click a node to open it in a new tab
Disease: 1Symptom: 4Target: 17Links: 28
Arranging relationship network...
Record Fields
Scalar fields from the final disease record.
- Disease Id
- 7251
- Core Entity Id
- 64020
- Source Entity Count
- 1
- Preferred Name
- Cat Eye Syndrome
- Name Cn
- 猫眼综合征
- Name Pinyin
- Mao Yan Zong He Zheng
- Name En
- Cat Eye Syndrome
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms
- Do Class
- Hpo Class
- Mesh Class Name
- Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
- Hpo Class Name
- Do Class Name
- Disease Definition
- NCI2016_02D:A rare genetic syndrome caused by abnormalities of chromosome 22. It is characterized by anal atresia with fistula formation, coloboma of the iris, down slanting palpebral fissures, and heart and kidney malformations.|JABL99:Coloboma of the iris (giving the appearance of a vertical pupil, hence the name "cat eye"), atresia of the anus, preauricular tags or fistulae, congenital cardiovascular abnormalities, urinary tract anomalies, and reduced growth rate. Mental retardation is not a consistent feature and, when present, it is usually mild.
- Version
- v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Cat Eye Syndrome
Role
preferred
Name
Schmid-Fraccaro Syndrome
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS005839
Umls
C0265493
Sym Map
SMDE06804
Dis Ge Net
C0265493
Umls Sty
T047
Me Sh Class
C11C16C23
Etcm Disease
Cat Eye Syndrome
Tcmbank Disease
13426
Itcmdb Generated
ITX-DISEASE-9FCADA13B795
Attributes
Merged source attributes and domain-specific metadata.
Version
v2
Suppress
0
Page Title
Disease Cat Eye Syndrome Details page
Disease Type
disease
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Cat Eye Syndrome
Global Category
Fetal diseases;Rare diseases
Anatomical Category
Eye diseases;Nephrological diseases
Disease Definition
NCI2016_02D:A rare genetic syndrome caused by abnormalities of chromosome 22. It is characterized by anal atresia with fistula formation, coloboma of the iris, down slanting palpebral fissures, and heart and kidney malformations.|JABL99:Coloboma of the iris (giving the appearance of a vertical pupil, hence the name "cat eye"), atresia of the anus, preauricular tags or fistulae, congenital cardiovascular abnormalities, urinary tract anomalies, and reduced growth rate. Mental retardation is not a consistent feature and, when present, it is usually mild.
Me Sh Disease Class
Eye 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; Eye Diseases
Umls Semantic Type Name
Disease or Syndrome