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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:0001241 | Capitate-hamate fusion |
| HP:0000175 | Cleft palate |
| HP:0003026 | Short long bone |
| HP:0010049 | Short metacarpal |
| HP:0002945 | Intervertebral space narrowing |
| HP:0001156 | Brachydactyly |
| HP:0004976 | Knee dislocation |
| HP:0000348 | High forehead |
| HP:0003196 | Short nose |
| HP:0001385 | Hip dysplasia |
