WormBase Tree Display for DO_term: DOID:0070415
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| DOID:0070415 | Name | brachycephaly, trichomegaly, and developmental delay | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A syndrome characterized by brachycephaly, trichomegaly, and developmental delay, without anemia, that has_material_basis_in heterozygous mutation in the RPS23 gene on chromosome 5q14. | ||||
| Synonym | Exact | BTDD | |||
| MCINS | |||||
| Macinnes syndrome | |||||
| Parent | Is_a | DOID:225 | |||
| DOID:0050736 | |||||
| DB_info | Database | OMIM | disease | 617412 | |
| Attribute_of | Gene_by_orthology | WBGene00004492 |
