brachycephaly, trichomegaly, and developmental delay Disease Ontology Browser

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Disease Ontology Browser

brachycephaly, trichomegaly, and developmental delay (DOID:0070415)
Alliance: disease page
Synonyms: BTDD; Macinnes syndrome; MCINS
Alt IDs: OMIM:617412
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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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