hypogonadotropic hypogonadism 2 with or without anosmia
Go to external page http://purl.obolibrary.org/obo/MONDO_0007844
Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene. [ MONDO:patterns/disease_series_by_gene ]
Synonyms: hypogonadotropic hypogonadism caused by mutation in FGFR1 hypogonadotropic hypogonadism 2 with or without anosmia FGFR1 hypogonadotropic hypogonadism
Term information
- ICD10CM:E23.0 (MONDO:relatedTo)
- MEDGEN:289648 (MONDO:equivalentTo)
- GARD:3070 (MONDO:GARD)
- OMIM:147950 (MONDO:equivalentTo)
- UMLS:C1563720 (MONDO:equivalentTo)
- DOID:0090083 (MONDO:equivalentTo)
gard_rare, otar, rare
http://purl.obolibrary.org/obo/DOID_0090083
https://omim.org/entry/147950
http://linkedlifedata.com/resource/umls/id/C1563720
http://identifiers.org/medgen/289648