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
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- ICD10CM:E03.1
- MIM:300888
- ORDO:329235
- Ontology
- Human Disease ( DOID:0111140 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models