Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	hypogonadotropic hypogonadism 1 with or without anosmia
Synonyms	dysplasia olfactogenitalis of de morsier
Definitions	A hypogonadotropic hypogonadism that has_material_basis_in mutation in the KAL1 gene on chromosome Xp22.3, sometimes in association with mutation in another gene.
ID	http://purl.obolibrary.org/obo/DOID_0090094
database_cross_reference	OMIM:308700 ICD10CM:E23.0
definition	A hypogonadotropic hypogonadism that has_material_basis_in mutation in the KAL1 gene on chromosome Xp22.3, sometimes in association with mutation in another gene.
has exact synonym	dysplasia olfactogenitalis of de morsier
has material basis in	http://purl.obolibrary.org/obo/GENO_0000149
has_obo_namespace	disease_ontology
id	DOID:0090094
label	hypogonadotropic hypogonadism 1 with or without anosmia
notation	DOID:0090094
prefLabel	hypogonadotropic hypogonadism 1 with or without anosmia
subClassOf	http://purl.obolibrary.org/obo/DOID_0090070 http://purl.obolibrary.org/obo/DOID_0080012

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/OMIM/308700	Online Mendelian Inheritance in Man	LOOM