Search Ontology:
Human Disease

IGSF1 deficiency syndrome

Term ID
DOID:0111140
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
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. (2)
References
Ontology
Human Disease   ( DOID:0111140 )
Relationships
is a type of
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Genes Involved
Zebrafish Models