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