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Summary Literature (0)
DOID:0080342 - Simpson-Golabi-Behmel syndrome type 2


Disease Ontology 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.

Synonyms:

In OMIM:
OMIM:300209 - SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2; SGBS2

In Mondo Disease Ontology:
MONDO:0010265 - Simpson-Golabi-Behmel syndrome type 2

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : ofd1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): syndrome (is_a)