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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: 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,
Xenbase Genes :
MONDO:0010475 - X-linked central congenital hypothyroidism with late-onset testicular enlargement |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
X-linked monogenic disease (is_a),
syndrome (is_a)