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DO Term : hypogonadotropic hypogonadism 23 with or without anosmia [DOID:0090091] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the LHB gene on chromosome 19q13.

synonyms:
leydig cell hypoplasia due to LHB deficiency,
46,XY disorder of sex development due to LHB deficiency,
fertile eunuch syndrome,
46,XY DSD due to LHB deficiency,
Pasqualini syndrome,
ORDO:325448,
46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency,
ICD10CM:Q56.1,
Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency,
OMIM:228300,
228300,
46,XY DSD due to luteinizing hormone subunit beta deficiency

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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