DiseaseID 26068
肢端面骨发育不全1型Nager型
Acrofacial Dysostosis 1, Nager Type
JABL99:A rare syndrome combining the features of mandibulofacial dysostosis (severe micrognathia with malar hypoplasia) with limb abnormalities absence of the radius, radioulnar synostosis, and hypoplasia or absence of t
Relationship Network
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Disease: 1Herb: 12Target: 16Links: 36
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 26068
- Core Entity Id
- 118636
- Source Entity Count
- 1
- Preferred Name
- Acrofacial Dysostosis 1, Nager Type
- Name Cn
- 肢端面骨发育不全1型Nager型
- Name Pinyin
- Zhi Duan Mian Gu Fa Yu Bu Quan 1 Xing Nager Xing
- Name En
- Acrofacial Dysostosis 1, Nager Type
- 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:A rare syndrome combining the features of mandibulofacial dysostosis (severe micrognathia with malar hypoplasia) with limb abnormalities absence of the radius, radioulnar synostosis, and hypoplasia or absence of the thumbs). A few patients exhibit mental retardation.
- Version
- v1,v2
- Suppressed
- Yes
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Acrofacial Dysostosis 1, Nager Type
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Sym Map
SMDE01789
Etcm Disease
Acrofacial Dysostosis 1, Nager Type
Itcmdb Generated
ITX-DISEASE-DE0A68DF8998
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
1
Page Title
Disease Acrofacial Dysostosis 1, Nager Type Details page
Link Disease Id
1614.0
Basic Information
Disease Name
Acrofacial Dysostosis 1, Nager Type
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Eye diseases
Disease Definition
JABL99:A rare syndrome combining the features of mandibulofacial dysostosis (severe micrognathia with malar hypoplasia) with limb abnormalities absence of the radius, radioulnar synostosis, and hypoplasia or absence of the thumbs). A few patients exhibit mental retardation.