|
General Information
|
| Term |
Ehlers-Danlos syndrome spondylodysplastic type 1 |
ID (Ontology) |
DOID:0080738 (Human Disease) |
| Definition |
An Ehlers-Danlos syndrome that is characterized by short stature, developmental anomalies of the forearm bones and elbow, and bowing of extremities, in addition to the classic stigmata of Ehlers-Danlos syndrome, including joint laxity, skin hyperextensibility, and poor wound healing and that has_material_basis_in homozygous or compound heterozygous mutation in the B4GALT7 gene on chromosome 5q35. |
| Comment |
|
|
Links to External Ontologies
|
|
DO.org
|
|
Annotations
|
|
Records annotated with this term OR any of its CHILD TERMS
|
|
|
|
Records annotated with this exact term (annotations to child terms are NOT included)
|
| Data Class | Field | Records |
|---|
|
| Human Disease Models (FBhh) | DOID | 1 |
|
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
|
| Full annotation statements | Relevant FlyBase reports |
|---|
| Genes | Human Disease Models |
|---|
Ehlers-Danlos syndrome spondylodysplastic type 1 | 1 | 1 | for disease ribbon | Ehlers-Danlos syndrome spondylodysplastic type 1 | 1 | -- | model of | Ehlers-Danlos syndrome spondylodysplastic type 1 | 1 | -- |
|
Relationships