Mondo Disease Ontology

Last uploaded: February 4, 2025

Id	http://purl.obolibrary.org/obo/MONDO_0007844 http://purl.obolibrary.org/obo/MONDO_0007844
Preferred Name	hypogonadotropic hypogonadism 2 with or without anosmia
Definitions	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene.
Synonyms	Kallmann syndrome 2 HH2 KAL2 hypogonadotropic hypogonadism 2 with or without anosmia hypogonadotropic hypogonadism caused by mutation in FGFR1 FGFR1 hypogonadotropic hypogonadism
Type	http://www.w3.org/2002/07/owl#Class

definition	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene.
label	hypogonadotropic hypogonadism 2 with or without anosmia
prefLabel	hypogonadotropic hypogonadism 2 with or without anosmia
database_cross_reference	DOID:0090083 OMIM:147950 ICD10CM:E23.0 MEDGEN:289648 UMLS:C1563720 GARD:3070 See more See less
notation	MONDO:0007844
in_subset	http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#gard_rare
has_related_synonym	Kallmann syndrome 2 HH2 KAL2
id	MONDO:0007844
skos_exactMatch	https://omim.org/entry/147950 http://identifiers.org/medgen/289648 http://purl.obolibrary.org/obo/DOID_0090083 http://linkedlifedata.com/resource/umls/id/C1563720
subClassOf	http://purl.obolibrary.org/obo/MONDO_0018800
type	http://www.w3.org/2002/07/owl#Class
has_exact_synonym	hypogonadotropic hypogonadism 2 with or without anosmia hypogonadotropic hypogonadism caused by mutation in FGFR1 FGFR1 hypogonadotropic hypogonadism
treeView	http://purl.obolibrary.org/obo/MONDO_0018800

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