Disease: Chondrodysplasia With Joint Dislocations, Gpapp Type

Name Chondrodysplasia With Joint Dislocations, Gpapp Type


Classification bone, developmental, genetic

Phenotypes Autosomal recessive inheritance; Brachydactyly; Cleft palate; Coronal craniosynostosis; Flat face; Genu valgum; Hearing impairment; High forehead; Micrognathia; Narrow mouth; Patellar dislocation; Proptosis; Short foot; Short metacarpal; Short nose; Short stature; Short toe; Wide nasal bridge

Associated Genes BPNT2 (Withdrawn symbols: FLJ20421, IMPA3, IMPAD1, gPAPP )

Mouse Orthologs Bpnt2 (Withdrawn symbols: 1110001C20Rik, AA408880, AI451589, AL022796, Impad1 )

Source OMIM:614078 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)

Mouse Model: phenotype-based associations

Disease phenotypes are compared with mouse phenotypes, with each mouse model contributing one point to the diagram. Scores are computed according to phenotype specificity and cross-species similarity. X-axis shows the score of the single phenotype that contributes most. Y-axis shows an average among all phenotype matches. The curved line designates a visualization threshold; models below threshold are omitted, except when their genotype matches a disease-associated gene.

Mouse Models

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