DiseaseID 14228
Jarcho-Levin综合征
disease
Autosomal dominant spondylocostal dysostosis is a very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number
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Disease: 1Symptom: 4Target: 12Links: 16
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 14228
- Core Entity Id
- 71983
- Source Entity Count
- 1
- Preferred Name
- Jarcho-Levin Syndrome
- Name Cn
- Jarcho-Levin综合征
- Name Pinyin
- Jarcho-levin Zong He Zheng
- Name En
- Jarcho-Levin Syndrome
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Congenital Abnormality
- Disgenet Type
- disease
- Mesh Class
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and SymptomsMusculoskeletal Diseases
- Do Class
- disease of anatomical entitydisease of anatomical entity; genetic disease
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesMusculoskeletal DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
- Hpo Class Name
- Do Class Name
- disease of anatomical entitygenetic disease; disease of anatomical entity
- Disease Definition
- Autosomal dominant spondylocostal dysostosis is a very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Jarcho-Levin Syndrome
Role
preferred
Name
Spondylocarpotarsal Synostosis Syndrome
Role
preferred
Name
Spondylocostal Dysostosis 3, Autosomal Recessive
Role
preferred
Name
Spondylocostal Dysostosis 4, Autosomal Recessive
Role
preferred
Name
Spondylocostal Dysostosis 6, Autosomal Recessive
Role
preferred
Name
Autosomal Dominant Spondylocostal Dysostosis
Role
preferred
Name
Other Congenital Malformations of Spine, Not Associated With Scoliosis
Role
preferred
Name
SPONDYLOCOSTAL DYSOSTOSIS 5
Role
preferred
Name
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2
Role
preferred
Name
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 3
Role
preferred
Name
Spondylocostal Dysostosis 1, Autosomal Recessive
Role
preferred
Name
SCDO3
Role
alias
Name
SCDO4
Role
alias
Name
SCDO6
Role
alias
Name
SCOLIOSIS, CONGENITAL, WITH UNILATERAL UNSEGMENTED BAR
Role
alias
Name
SCT
Role
alias
Name
SPONDYLOCARPOTARSAL SYNDROME
Role
alias
Name
SYNSPONDYLISM, CONGENITAL
Role
alias
Name
Spondylocarpotarsal Synostosis
Role
alias
Name
Spondylocostal Dysostosis
Role
alias
Name
Spondylocostal Dysostosis 2, Autosomal Recessive
Role
alias
Name
Spondylocostal Dysostosis, Autosomal Recessive
Role
alias
Name
VERTEBRAL FUSION WITH CARPAL COALITION
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS005825HBDIS009717HBDIS015590HBDIS016528HBDIS016942HBDIS020721HBDIS025541HBDIS025916HBDIS029850
Omim
122600272460277300608681609813613686616566
Umls
C0265343C1848934C1853296C3150942C4083048C4225279
Icd10
Q76.4Q76.8
Sym Map
SMDE00091SMDE01461SMDE01887SMDE02528SMDE04571SMDE04716SMDE04961
Do Class
DOID:630DOID:7
Dis Ge Net
C0265343C0478074C1837549C1848934C1853296C3150942C4083048C4225279C4274761
Orphanet
17972311
Umls Sty
T019T047
Me Sh Class
C05C16C23
Tcmbank Disease
11581120917058248152527031642318063987
Itcmdb Generated
ITX-DISEASE-5897F4FB23C3ITX-DISEASE-9090BCA67C64
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2
Suppress
0
Do Class Name
disease of anatomical entitygenetic disease; disease of anatomical entity
Disease Type
disease
Do Disease Class
disease of anatomical entitydisease of anatomical entity; genetic disease
Umls Disease Type
Congenital AbnormalityDisease or Syndrome
Disease Definition
Autosomal dominant spondylocostal dysostosis is a very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number NCI2016_02D:A rare disorder caused by mutations in the DLL3 gene, MESP2 gene, LFNG gene, or HES7 gene. It is characterized by abnormal development of bones in the spine and ribs.
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and SymptomsMusculoskeletal Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesMusculoskeletal DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Umls Semantic Type Name
Congenital AbnormalityDisease or Syndrome