|
General Information
|
| Term |
chondrodysplasia with joint dislocations gPAPP type |
ID (Ontology) |
DOID:0112224 (Human Disease) |
| Definition |
An osteochondrodysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, joint hyperlaxity and/or dislocations, micrognathia, cleft palate, brachydactyly, short metacarpals, supernumerary carpal ossification centers and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the IMPAD1 gene on chromosome 8q12. |
| Also Known As |
"gPAPP deficiency" |
| 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)
|
|
No relevant records available
|
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
|
| Full annotation statements | Relevant FlyBase reports |
|---|
| Genes |
|---|
chondrodysplasia with joint dislocations gPAPP type | 1 | for disease ribbon | chondrodysplasia with joint dislocations gPAPP type | 1 | model of | chondrodysplasia with joint dislocations gPAPP type | 1 |
|
Relationships