| Dataset | MPO Gene-Phenotype Associations |
| Category | disease or phenotype associations |
| Type | phenotype |
| Description | Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present. (Orphanet Rare Disease Ontology, Orphanet_93338) |
| External Link | http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004083 |
| Similar Terms | |
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11 gene mutations causing the polysyndactyly phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
| Symbol | Name |
|---|---|
| CENPJ | centromere protein J |
| GLI3 | GLI family zinc finger 3 |
| HOXD13 | homeobox D13 |
| IFT122 | intraflagellar transport 122 |
| LRP4 | low density lipoprotein receptor-related protein 4 |
| MBD4 | methyl-CpG binding domain protein 4 |
| PAX1 | paired box 1 |
| PAX9 | paired box 9 |
| SFRP2 | secreted frizzled-related protein 2 |
| SPRY4 | sprouty homolog 4 (Drosophila) |
| WDR35 | WD repeat domain 35 |
