DiseaseID 26637
线状皮肤缺损伴多发性先天畸形1型
Linear Skin Defects With Multiple Congenital Anomalies 1
JABL99:Linear areas of erythematous skin dysplasia involving the chin, neck, and head, occurring in association with microphthalmia, corneal opacities, and orbital cysts. Additional findings may include agenesis of corpu
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Disease: 1Symptom: 12Target: 19Links: 36
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 26637
- Core Entity Id
- 119205
- Source Entity Count
- 1
- Preferred Name
- Linear Skin Defects With Multiple Congenital Anomalies 1
- Name Cn
- 线状皮肤缺损伴多发性先天畸形1型
- Name Pinyin
- Xian Zhuang Pi Fu Que Sun Ban Duo Fa Xing Xian Tian Ji Xing 1 Xing
- Name En
- Linear Skin Defects With Multiple Congenital Anomalies 1
- Name Latin
- Bilingual Status
- complete
- Disease Type
- Umls Disease Type
- Disgenet Type
- Mesh Class
- Do Class
- Hpo Class
- Mesh Class Name
- Hpo Class Name
- Do Class Name
- Disease Definition
- JABL99:Linear areas of erythematous skin dysplasia involving the chin, neck, and head, occurring in association with microphthalmia, corneal opacities, and orbital cysts. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, mental retardation, and nail dystrophy. Some features of the phenotype of this syndrome overlap those of Aicardi and Goltz syndromes.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Linear Skin Defects With Multiple Congenital Anomalies 1
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Umls
C0796070
Sym Map
SMDE04453
Etcm Disease
Linear Skin Defects with Multiple Congenital Anomalies 1
Itcmdb Generated
ITX-DISEASE-3F311F74E3B3
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Page Title
Disease Linear Skin Defects with Multiple Congenital Anomalies 1 Details page
Basic Information
Disease Name
Linear Skin Defects with Multiple Congenital Anomalies 1
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Cardiovascular diseases;Eye diseases;Neuronal diseases;Skin diseases
Disease Definition
JABL99:Linear areas of erythematous skin dysplasia involving the chin, neck, and head, occurring in association with microphthalmia, corneal opacities, and orbital cysts. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, mental retardation, and nail dystrophy. Some features of the phenotype of this syndrome overlap those of Aicardi and Goltz syndromes.