Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	hypogonadotropic hypogonadism 7 with or without anosmia
Definitions	A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the GNRHR gene on chromosome 4q13, sometimes in association with mutation in another gene. No patients with anosmia have been reported.
ID	http://purl.obolibrary.org/obo/DOID_0090078
database_cross_reference	ICD10CM:E23.0 OMIM:146110
definition	A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the GNRHR gene on chromosome 4q13, sometimes in association with mutation in another gene. No patients with anosmia have been reported.
has material basis in	http://purl.obolibrary.org/obo/GENO_0000148
has_obo_namespace	disease_ontology
id	DOID:0090078
label	hypogonadotropic hypogonadism 7 with or without anosmia
notation	DOID:0090078
prefLabel	hypogonadotropic hypogonadism 7 with or without anosmia
subClassOf	http://purl.obolibrary.org/obo/DOID_0090070 http://purl.obolibrary.org/obo/DOID_0050737

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/OMIM/146110	Online Mendelian Inheritance in Man	LOOM