Human Disease Ontology / 人类疾病本体

Last uploaded: September 7, 2023
Preferred Name

hypogonadotropic hypogonadism 9 with or without anosmia

Definitions

A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the NELF gene on chromosome 9q34, sometimes in association with mutation in another gene.

ID

http://purl.obolibrary.org/obo/DOID_0090085

database_cross_reference

OMIM:614838

ICD10CM:E23.0

definition

A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the NELF gene on chromosome 9q34, sometimes in association with mutation in another gene.

has material basis in

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

has_obo_namespace

disease_ontology

id

DOID:0090085

label

hypogonadotropic hypogonadism 9 with or without anosmia

notation

DOID:0090085

prefLabel

hypogonadotropic hypogonadism 9 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/614838 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://purl.obolibrary.org/obo/MONDO_0013911 Mondo Disease Ontology / Mondo疾病本体 LOOM