WormBase Tree Display for DO_term: DOID:0110854
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| DOID:0110854 | Name | rhizomelic chondrodysplasia punctata type 5 | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PEX5 gene on chromosome 12p13.31. | ||||
| Synonym | Exact | Rcdp5 | |||
| Parent | Is_a | DOID:2580 | |||
| DB_info | Database | OMIM | disease | 616716 | |
| Attribute_of | Gene_by_orthology | WBGene00004194 |
