Simpson-Golabi-Behmel syndrome type 2

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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:

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: ofd1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0010265 - Simpson-Golabi-Behmel syndrome type 2

MONDO:0010265 - Simpson-Golabi-Behmel syndrome type 2

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): syndrome (is_a)