loading...| Preferred Name | hypogonadotropic hypogonadism 23 with or without anosmia | |
| Synonyms |
hypogonadotropic hypogonadism 23 without anosmia eunuchoidism with spermatogenesis, normal FSH and low or normal interstitial cell-stimulating hormone (ICSH) HH23 LHB hypogonadotropic hypogonadism 46,XY disorder of sex development due to LHB deficiency fertile eunuch syndrome 46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency hypogonadotropic hypogonadism caused by mutation in LHB Pasqualini syndrome 46,XY DSD due to luteinizing hormone subunit beta deficiency 46,XY DSD due to LHB deficiency Leydig cell hypoplasia due to LHB deficiency Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency |
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| Definitions |
Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the LHB gene. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0009223 |
|
| database_cross_reference |
MESH:C537919 MEDGEN:82881 SCTID:8829008 Orphanet:325448 UMLS:C0271582 OMIM:228300 DOID:0090091 GARD:10127 ICD9:253.4 |
|
| definition |
Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the LHB gene. |
|
| has_exact_synonym |
LHB hypogonadotropic hypogonadism 46,XY disorder of sex development due to LHB deficiency fertile eunuch syndrome 46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency hypogonadotropic hypogonadism caused by mutation in LHB Pasqualini syndrome 46,XY DSD due to luteinizing hormone subunit beta deficiency 46,XY DSD due to LHB deficiency Leydig cell hypoplasia due to LHB deficiency Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency |
|
| has_related_synonym |
hypogonadotropic hypogonadism 23 without anosmia eunuchoidism with spermatogenesis, normal FSH and low or normal interstitial cell-stimulating hormone (ICSH) HH23 |
|
| id |
MONDO:0009223 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_subtype_of_a_disorder |
|
| label |
hypogonadotropic hypogonadism 23 with or without anosmia |
|
| notation |
MONDO:0009223 |
|
| preferred label |
hypogonadotropic hypogonadism 23 with or without anosmia |
|
| prefLabel |
hypogonadotropic hypogonadism 23 with or without anosmia |
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| skos_exactMatch |
http://identifiers.org/medgen/82881 http://purl.obolibrary.org/obo/Orphanet_325448 http://linkedlifedata.com/resource/umls/id/C0271582 http://identifiers.org/snomedct/8829008 |
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| subClassOf |