DiseaseID 26415
多发性翼状胬肉综合征，埃斯科巴变异型
Multiple Pterygium Syndrome, Escobar Variant
NCI2016_02D:A rare congenital disorder, this is the non-lethal variant of multiple pterygium syndrome, characterized by orthopedic and craniofacial abnormalities, pterygium and akinethesia. The majority of cases are auto
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Disease: 1Symptom: 1Target: 21Links: 25
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 26415
- Core Entity Id
- 118983
- Source Entity Count
- 1
- Preferred Name
- Multiple Pterygium Syndrome, Escobar Variant
- Name Cn
- 多发性翼状胬肉综合征，埃斯科巴变异型
- Name Pinyin
- Duo Fa Xing Yi Zhuang Nu Rou Zong He Zheng ， Ai Si Ke Ba Bian Yi Xing
- Name En
- Multiple Pterygium Syndrome, Escobar Variant
- 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
- NCI2016_02D:A rare congenital disorder, this is the non-lethal variant of multiple pterygium syndrome, characterized by orthopedic and craniofacial abnormalities, pterygium and akinethesia. The majority of cases are autosomal dominant.|JABL99:A rare syndrome of short stature, abnormal facies and webbing of the neck, antecubital, digital, popliteal, and intercural areas. Joint contractures, vertebral fusion defects, and rocker-bottom feet are usually associated.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Multiple Pterygium Syndrome, Escobar Variant
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Umls
C0265261
Sym Map
SMDE03356
Etcm Disease
Multiple Pterygium Syndrome, Escobar Variant
Itcmdb Generated
ITX-DISEASE-560E0A71D059
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Page Title
Disease Multiple Pterygium Syndrome, Escobar Variant Details page
Basic Information
Disease Name
Multiple Pterygium Syndrome, Escobar Variant
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Ear diseases;Eye diseases;Neuronal diseases;Skin diseases
Disease Definition
NCI2016_02D:A rare congenital disorder, this is the non-lethal variant of multiple pterygium syndrome, characterized by orthopedic and craniofacial abnormalities, pterygium and akinethesia. The majority of cases are autosomal dominant.|JABL99:A rare syndrome of short stature, abnormal facies and webbing of the neck, antecubital, digital, popliteal, and intercural areas. Joint contractures, vertebral fusion defects, and rocker-bottom feet are usually associated.