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Disease Ontology Browser
IGSF1 deficiency syndrome (DOID:0111140)
Alliance: disease page
Synonyms: central hypothyroidism and testicular enlargement; CHTE; X-linked central congenital hypothyroidism with late-onset macroorchidism; X-linked central congenital hypothyroidism with late-onset testicular enlargement
Alt IDs: OMIM:300888, ICD10CM:E03.1, ORDO:329235
Definition: An X-linked recessive 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.

Disease References using Mouse Models (1)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
10/08/2019
MGI 6.14
The Jackson Laboratory