IGSF1 deficiency syndrome

Summary

DOID:0111140 - IGSF1 deficiency syndrome

Disease Ontology Definition:A syndrome characterized by hypothyroidism that is present at birth, delayed testosterone increase in puberty, and testicular enlargement in adulthood that has_material_basis_in mutation of the IGSF1 gene on chromosome Xq26.

Synonyms: central hypothyroidism and testicular enlargement, CHTE, X-linked central congenital hypothyroidism with late-onset testicular enlargement, X-linked central congenital hypothyroidism with late-onset macroorchidism

Echinobase 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

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 monogenic disease (is_a), X-linked recessive disease (is_a)