WormBase Tree Display for DO_term: DOID:0111811
expand all nodes | collapse all nodes | view schema
| DOID:0111811 | Name | syndromic microphthalmia 13 | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A syndromic microphthalmia characterized by colobomatous microphthalmia, microcephaly, short stature, and psychomotor retardation that has_material_basis_in mutation in the HMGB3 gene on chromosome Xq28. | ||||
| Synonym | Exact | MCOPS13 | |||
| Maine microphthalmos | |||||
| X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome | |||||
| colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation | |||||
| Parent | Is_a | DOID:0050735 | |||
| DOID:0080636 | |||||
| DB_info | Database | OMIM | disease | 300915 | |
| Attribute_of | Gene_by_orthology | WBGene00001972 |
