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Summary Literature (0)
DOID:0081075 - Marsili syndrome

Disease Ontology Definition:A syndrome that is characterized by a lowered ability to sense pain, to experience temperature, and to sweat and that has_material_basis_in heterozygous mutation in the ZFHX2 gene on chromosome 14q11.

Synonyms: congenital analgesia, congenital insensitivity to pain

Xenbase Genes : zfhx2


MIM:
MIM:147430 - MARSILI SYNDROME; MARSIS

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), syndrome (is_a)