hypogonadotropic hypogonadism 2 with or without anosmia

Summary

DOID:0090083 - hypogonadotropic hypogonadism 2 with or without anosmia

Disease Ontology 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.

Synonyms:

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: fgfr1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0007844 - cartilage element

MONDO:0007844 - cartilage element

MIM:

MIM:147950 - HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA; HH2

MIM:147950 - HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA; HH2

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), hypogonadotropic hypogonadism (is_a)