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General Information
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| Term |
Ehlers-Danlos syndrome spondylodysplastic type 3 |
ID (Ontology) |
DOID:0080739 (Human Disease) |
| Definition |
An Ehlers-Danlos syndrome that has_material_basis_in homozygous mutation in the zinc transporter gene SLC39A13 on chromosome 11p11 and that is characterized by short stature, hyperelastic skin and hypermobile joints, protuberant eyes with bluish sclerae, finely wrinkled palms, and characteristic radiologic features. |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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| Data Class | Field | Records |
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| Human Disease Models (FBhh) | DOID | 1 |
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Genes | Human Disease Models |
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Ehlers-Danlos syndrome spondylodysplastic type 3 | 1 | 1 | for disease ribbon | Ehlers-Danlos syndrome spondylodysplastic type 3 | 1 | -- | model of | Ehlers-Danlos syndrome spondylodysplastic type 3 | 1 | -- |
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Relationships