About: IGSF1 deficiency syndrome

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An Entity of Type : owl:Class, within Data Space : demo.openlinksw.com associated with source document(s)

Attributes	Values
type	Class
subClassOf	X-linked recessive disease syndrome nodeID://b50944301
label	IGSF1 deficiency syndrome
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0111140
database_cross_reference	ICD10CM:E03.1 OMIM:300888 ORDO:329235
has_exact_synonym	CHTE (en) central hypothyroidism and testicular enlargement (en) X-linked central congenital hypothyroidism with late-onset macroorchidism (en) X-linked central congenital hypothyroidism with late-onset testicular enlargement (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	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.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50944302

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