Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
Preferred Name

HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA

Synonyms

HYPOGONADISM, ISOLATED HYPOGONADOTROPIC

ID

http://purl.bioontology.org/ontology/OMIM/146110

altLabel

HYPOGONADISM, ISOLATED HYPOGONADOTROPIC

IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM

IHH

HH7

cui

C3489396

C0342384

Gene Locus

4q21.2

Gene Symbol

LHRHR

HH7

GNRHR

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU006965

http://purl.bioontology.org/ontology/OMIM/MTHU047884

http://purl.bioontology.org/ontology/OMIM/MTHU046373

http://purl.bioontology.org/ontology/OMIM/MTHU058231

http://purl.bioontology.org/ontology/OMIM/MTHU006969

http://purl.bioontology.org/ontology/OMIM/MTHU048548

http://purl.bioontology.org/ontology/OMIM/MTHU046657

http://purl.bioontology.org/ontology/OMIM/MTHU058232

http://purl.bioontology.org/ontology/OMIM/MTHU007202

http://purl.bioontology.org/ontology/OMIM/MTHU048554

http://purl.bioontology.org/ontology/OMIM/MTHU048553

http://purl.bioontology.org/ontology/OMIM/MTHU000066

http://purl.bioontology.org/ontology/OMIM/MTHU007248

http://purl.bioontology.org/ontology/OMIM/MTHU040500

http://purl.bioontology.org/ontology/OMIM/MTHU008631

http://purl.bioontology.org/ontology/OMIM/MTHU008632

http://purl.bioontology.org/ontology/OMIM/MTHU040494

http://purl.bioontology.org/ontology/OMIM/MTHU036761

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

146110

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA

Scope Statement

Caused by mutation in the gonadotropin-releasing hormone receptor gene (GNRHR, 138850.0001) [MOLECULAR BASIS]

Phenotypic variability has been described, with some patients exhibiting partial and others complete hypogonadotropic hypogonadism [MISCELLANEOUS]

tui

T047

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