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DO Term : IGSF1 deficiency syndrome [DOID:0111140] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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:
OMIM:300888,
ICD10CM:E03.1,
ORDO:329235,
X-linked central congenital hypothyroidism with late-onset testicular enlargement,
300888,
X-linked central congenital hypothyroidism with late-onset macroorchidism,
central hypothyroidism and testicular enlargement,
CHTE

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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