WormBase Tree Display for DO_term: DOID:0111507
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| DOID:0111507 | Name | Lenz-Majewski hyperostotic dwarfism | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A syndrome characterized by intellectual disability, sclerosing bone dysplasia, distinct craniofacial, dental, cutaneous and distal-limb anomalies that has_material_basis_in heterozygous mutation in the PTDSS1 gene on chromosome 8q22.1. | ||||
| Synonym | Exact | Lenz-Majewski syndrome | |||
| Parent | Is_a | DOID:225 | |||
| DOID:0050736 | |||||
| DB_info | Database | OMIM | disease | 151050 | |
| Attribute_of | Gene_by_orthology | WBGene00012095 | |||
| WBGene00013920 |
