|
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
:
ofd1
| MONDO:0010265 - Simpson-Golabi-Behmel syndrome type 2 |
| MIM:300209 - SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2; SGBS2 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
syndrome (is_a),
X-linked recessive disease (is_a)