Human Disease Ontology 123

Last uploaded: September 28, 2023
Preferred Name

hypogonadotropic hypogonadism 2 with or without anosmia

Definitions

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.

ID

http://purl.obolibrary.org/obo/DOID_0090083

database_cross_reference

OMIM:147950

ICD10CM:E23.0

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.

has material basis in

http://purl.obolibrary.org/obo/GENO_0000147

has_obo_namespace

disease_ontology

id

DOID:0090083

label

hypogonadotropic hypogonadism 2 with or without anosmia

notation

DOID:0090083

prefLabel

hypogonadotropic hypogonadism 2 with or without anosmia

subClassOf

http://purl.obolibrary.org/obo/DOID_0090070

http://purl.obolibrary.org/obo/DOID_0050736

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http://purl.bioontology.org/ontology/OMIM/147950 Online Mendelian Inheritance in Man LOOM