Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	hypogonadotropic hypogonadism 2 with or without anosmia
Definitions	A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGFR1 gene on chromosome 8p11, sometimes in association with mutation in other genes.
ID	http://purl.obolibrary.org/obo/DOID_0090083
database_cross_reference	OMIM:147950 ICD10CM:E23.0
definition	A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGFR1 gene on chromosome 8p11, sometimes in association with mutation in other genes.
has material basis in	http://purl.obolibrary.org/obo/GENO_0000147
has_obo_namespace	disease_ontology
id	DOID:0090083
label	hypogonadotropic hypogonadism 2 with or without anosmia
notation	DOID:0090083
prefLabel	hypogonadotropic hypogonadism 2 with or without anosmia
subClassOf	http://purl.obolibrary.org/obo/DOID_0090070 http://purl.obolibrary.org/obo/DOID_0050736

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/OMIM/147950	Online Mendelian Inheritance in Man	LOOM