DiseaseID 15885
隐性型Klippel-Feil综合征
disease
Klippel-Feil Syndrome is characterised by improper segmentation of cervical segments resulting in congenitally fused cervical vertebrae.
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Disease: 1Symptom: 7Target: 18Links: 31
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 15885
- Core Entity Id
- 73879
- Source Entity Count
- 1
- Preferred Name
- Klippel Feil Syndrome Recessive Type
- Name Cn
- 隐性型Klippel-Feil综合征
- Name Pinyin
- Yin Xing Xing Klippel-feil Zong He Zheng
- Name En
- Klippel Feil Syndrome Recessive Type
- 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; Musculoskeletal Diseases
- Do Class
- disease of anatomical entity; genetic disease; physical disorder; syndrome
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
- Hpo Class Name
- Do Class Name
- genetic disease; disease of anatomical entity; syndrome; physical disorder
- Disease Definition
- Klippel-Feil Syndrome is characterised by improper segmentation of cervical segments resulting in congenitally fused cervical vertebrae.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Klippel Feil Syndrome Recessive Type
Role
preferred
Name
Klippel-Feil Syndrome 3, Autosomal Dominant
Role
preferred
Name
Isolated Klippel-Feil Syndrome
Role
preferred
Name
KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT
Role
preferred
Name
KFS3
Role
alias
Name
Kfs
Role
alias
Name
Kfs, Autosomal Recessive
Role
alias
Name
Klippel Feil Syndrome Dominant Type
Role
alias
Name
Klippel-Feil Syndrome 1
Role
alias
Name
Klippel-Feil Syndrome 1, Autosomal Dominant
Role
alias
Name
Klippel-Feil Syndrome 2
Role
alias
Name
Klippel-Feil Syndrome 2, Autosomal Recessive
Role
alias
Name
Klippel-Feil Syndrome 3
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS017628HBDIS017887HBDIS020726
Omim
118100214300613702
Umls
C0022738C3150967
Sym Map
SMDE02005SMDE04512
Do Class
DOID:0080015DOID:225DOID:630DOID:7
Dis Ge Net
C1859209C1861689C3150967
Orphanet
2345
Umls Sty
T047
Me Sh Class
C05C16
Etcm Disease
Isolated Klippel-Feil Syndrome
Tcmbank Disease
131892801329394
Itcmdb Generated
ITX-DISEASE-66F96A10A0B1ITX-DISEASE-CC0C15D03E9E
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2
Suppress
0
Page Title
Disease Isolated Klippel-Feil Syndrome Details page
Do Class Name
genetic disease; disease of anatomical entity; syndrome; physical disorder
Disease Type
disease
Do Disease Class
disease of anatomical entity; genetic disease; physical disorder; syndrome
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Isolated Klippel-Feil Syndrome
Global Category
Fetal diseases;Rare diseases
Anatomical Category
Bone diseases
Disease Definition
Klippel-Feil Syndrome is characterised by improper segmentation of cervical segments resulting in congenitally fused cervical vertebrae.
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Umls Semantic Type Name
Disease or Syndrome