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chondrodysplasia with joint dislocations gPAPP type
Summary
- Synonym
-
- gPAPP deficiency
- 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.
- Super Class
- autosomal recessive disease osteochondrodysplasia
External Links
- Disease Ontology
- DOID:0112224
- Mondo Disease Ontology
- ORDO
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9NX62 | Golgi-resident adenosine 3',5'-bisphosphate 3'-phosphatase |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q80V26 | Golgi-resident adenosine 3',5'-bisphosphate 3'-phosphatase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002857 | Genu valgum |
| HP:0000520 | Proptosis |
| HP:0004440 | Coronal craniosynostosis |
| HP:0000347 | Micrognathia |
| HP:0003048 | Radial head subluxation |
| HP:0009826 | Limb undergrowth |
| HP:0001377 | Limited elbow extension |
| HP:0000160 | Narrow mouth |
| HP:0002999 | Patellar dislocation |
| HP:0005001 | Recurrent patellar dislocation |
