01
SF3B4
No data
Diseases
Acrofacial Dysostosis 1, Nager Type
acrofacial dysostosis 1, nager type
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 1
Basic Information
Grouped by core information, identifiers, and descriptions.
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Core Information
- Disease Name
- Acrofacial Dysostosis 1, Nager Type
- Standard Disease Name
- acrofacial dysostosis 1, nager type
- MeSH Tree
- No data
- ICD-10
- Q75.4
Identifiers
- DO ID
- No data
- MeSH ID
- C538184
- OMIM ID
- 154400
- UMLS ID
- C0265245
- HPO ID
- No data
Description and Extensions
- Description
- 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.
Related
Related Entities
Direct relations and traceable candidates grouped by relation type.
Related Targets
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