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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/228300
http://purl.bioontology.org/ontology/OMIM/228300
|
|---|---|
| Preferred Name | HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA |
| Synonyms |
PASQUALINI SYNDROME
FERTILE EUNUCH SYNDROME
HH23
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
PASQUALINI SYNDROME
FERTILE EUNUCH SYNDROME
HH23
|
|---|---|
| prefLabel | HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA
|
| Gene Symbol |
LHB
HH23
|
| Scope Statement | Some male patients exhibit some degree of spermatogenesis, hence the designation 'fertile eunuch syndrome' has been used [MISCELLANEOUS]
Caused by mutation in the luteinizing hormone beta-polypeptide gene (LHB, 152780.0001) [MOLECULAR BASIS]
Affected females have apparently normal puberty but later develop secondary amenorrhea with anovulatory cycles [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 19q13.32
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 228300
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C0271582
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |