otopalatodigital syndrome type 2

Summary

DOID:0111784 - otopalatodigital syndrome type 2

Disease Ontology Definition:An otopalatodigital syndrome spectrum disorder characterized by disabling skeletal anomalies and variable malformations in the hindbrain, heart, intestines, and kidneys that frequently lead to perinatal death in males and less severe phenotypes in females that has_material_basis_in hemizygous or heterozygous mutation in exons 3, 4, or 5 in males or exons 28 or 29 in females of the FLNA gene on chromosome Xq28.

Synonyms: Andre syndrome, faciopalatoosseous syndrome, OPD2, OPD II syndrome, OPD syndrome 2, oto-palato-digital syndrome type 2, otopalatodigital syndrome type II

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

: flna

MIM:

MIM:304120 - OTOPALATODIGITAL SYNDROME, TYPE II; OPD2

MIM:304120 - OTOPALATODIGITAL SYNDROME, TYPE II; OPD2

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

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

Parent(s): otopalatodigital syndrome spectrum disorder (is_a), X-linked dominant disease (is_a)