Brachycephaly, Trichomegaly, And Developmental Delay
Disease ID: disease_node_20134
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| Dbxref | MIM:617412 |
|---|---|
| Subclassof | DOID_0050736, DOID_225 |
| Data Source | DOID |
| Synonyms | BTDD, MCINS, Macinnes syndrome |
| Doid Label | brachycephaly, trichomegaly, and developmental delay |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_20134 |
| Doid Id | DOID_0070415 |
| Label | Brachycephaly, Trichomegaly, And Developmental Delay |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease)