WormBase Tree Display for DO_term: DOID:0060767
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| DOID:0060767 | Name | autosomal dominant Robinow syndrome 3 | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A Robinow syndrome characterized by autosomal dominant inheritance of mesomelia, genital hypoplasia, and distinctive facial features comprising frontal bossing, prominent eyes, and a depressed nasal bridge that has_material_basis_in heterozygous mutation in the DVL3 gene on chromosome 3q27. | ||||
| Synonym | Exact | DRS3 | |||
| Parent | Is_a | DOID:0050736 | |||
| DOID:0060254 | |||||
| DB_info | Database | OMIM | disease | 616894 | |
| Attribute_of | Gene_by_orthology | WBGene00001102 | |||
| WBGene00003241 |
