|
DOID:0111140 - IGSF1 deficiency syndrome
Disease Ontology Definition:An X-linked disease 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: CHTE, X-linked central congenital hypothyroidism with late-onset macroorchidism, X-linked central congenital hypothyroidism with late-onset testicular enlargement, central hypothyroidism and testicular enlargement,
Echinobase Genes
:
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
X-linked disease (is_a)