OBO ID: DOID:0112224 |
Term Name: | chondrodysplasia with joint dislocations gPAPP type | Search Ontology: | |
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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. (2) | ||
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Ontology: | Human Disease ( DOID:0112224 ) |
OTHER chondrodysplasia with joint dislocations gPAPP type PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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