DiseaseID 6319
脑眼面骨骼综合征1型
disease
NCI2016_02D:A rare degenerative genetic disorder with an autosomal recessive pattern of inheritance that primarily affects the central nervous system. It is caused in some cases by mutations in the Cockayne syndrome grou
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Disease: 1Symptom: 7Target: 4Links: 11
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 6319
- Core Entity Id
- 62951
- Source Entity Count
- 1
- Preferred Name
- Cerebrooculofacioskeletal Syndrome 1
- Name Cn
- 脑眼面骨骼综合征1型
- Name Pinyin
- Nao Yan Mian Gu Ge Zong He Zheng 1 Xing
- Name En
- Cerebrooculofacioskeletal Syndrome 1
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Congenital Abnormality
- Disgenet Type
- disease
- Mesh Class
- Nervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
- Do Class
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
- Hpo Class Name
- Do Class Name
- Disease Definition
- NCI2016_02D:A rare degenerative genetic disorder with an autosomal recessive pattern of inheritance that primarily affects the central nervous system. It is caused in some cases by mutations in the Cockayne syndrome group B gene, CSB/ERCC6, or the xeroderma pigmentosum genes: XPD/ERCC2, XPG/ERCC5, XPF/ERCC1, which are all involved in the transcription-coupled nucleotide excision repair pathway of DNA repair. It is currently thought to be part of the spectrum of disorders within Cockayne syndrome. Clinical signs at birth include microcephaly, hypotonia, abnormal reflexes and involuntary eye movements. The clinical prognosis is fatal with survivability beyond 5 years unlikely.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Cerebrooculofacioskeletal Syndrome 1
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS004516
Omim
214150
Umls
C0220722
Sym Map
SMDE03110
Dis Ge Net
C0220722
Umls Sty
T019
Me Sh Class
C05C10C16C18
Tcmbank Disease
20366
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Disease Type
disease
Umls Disease Type
Congenital Abnormality
Disease Definition
NCI2016_02D:A rare degenerative genetic disorder with an autosomal recessive pattern of inheritance that primarily affects the central nervous system. It is caused in some cases by mutations in the Cockayne syndrome group B gene, CSB/ERCC6, or the xeroderma pigmentosum genes: XPD/ERCC2, XPG/ERCC5, XPF/ERCC1, which are all involved in the transcription-coupled nucleotide excision repair pathway of DNA repair. It is currently thought to be part of the spectrum of disorders within Cockayne syndrome. Clinical signs at birth include microcephaly, hypotonia, abnormal reflexes and involuntary eye movements. The clinical prognosis is fatal with survivability beyond 5 years unlikely.
Me Sh Disease Class
Nervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
Umls Semantic Type Name
Congenital Abnormality