OBO ID: DOID:0111140
Term Name: IGSF1 deficiency syndrome Search Ontology:
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:
OTHER IGSF1 deficiency syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
IGSF1 Hypothyroidism, central, and testicular enlargement
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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