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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/614841
http://purl.bioontology.org/ontology/OMIM/614841
|
|---|---|
| Preferred Name | HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA |
| Synonyms |
HH12
GONADOTROPIN DEFICIENCY, FAMILIAL IDIOPATHIC
FIGD
EUNUCHOIDISM, FAMILIAL HYPOGONADOTROPIC
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
HH12
GONADOTROPIN DEFICIENCY, FAMILIAL IDIOPATHIC
FIGD
EUNUCHOIDISM, FAMILIAL HYPOGONADOTROPIC
|
|---|---|
| prefLabel | HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA
|
| Gene Symbol |
LNRH
GNRH1
HH12
|
| Scope Statement | Based on report of 1 family (last curated October 2014) [MISCELLANEOUS]
Caused by mutation in the gonadotropic-releasing hormone 1 gene (GNRH1, 152760.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 8p21-p11.2
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 614841
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1856897
|
| Moved from | 227200
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |