Simpson-Golabi-Behmel syndrome type 2 Disease Ontology Browser

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Disease Ontology Browser

Simpson-Golabi-Behmel syndrome type 2 (DOID:0080342)
Alliance: disease page
Alt IDs: OMIM:300209
Definition: A syndrome that has_material_basis_in mutation in the OFD1 gene on chromosome Xp22 and is characterized by developmental delay, macrocephaly, and respiratory problems.

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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