loading...| Preferred Name | hypogonadotropic hypogonadism 23 with or without anosmia | |
| Synonyms |
fertile eunuch syndrome 46,XY disorder of sex development due to LHB deficiency 46,XY DSD due to LHB deficiency 46,XY DSD due to luteinizing hormone subunit beta deficiency Pasqualini syndrome leydig cell hypoplasia due to LHB deficiency 46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency |
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| Definitions |
A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the LHB gene on chromosome 19q13. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0090091 |
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| alternative label |
fertile eunuch syndrome 46,XY disorder of sex development due to LHB deficiency 46,XY DSD due to LHB deficiency 46,XY DSD due to luteinizing hormone subunit beta deficiency Pasqualini syndrome leydig cell hypoplasia due to LHB deficiency 46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency |
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| database_cross_reference |
ORDO:325448 ICD10CM:Q56.1 OMIM:228300 |
|
| definition |
A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the LHB gene on chromosome 19q13. |
|
| has exact synonym |
fertile eunuch syndrome 46,XY disorder of sex development due to LHB deficiency 46,XY DSD due to LHB deficiency 46,XY DSD due to luteinizing hormone subunit beta deficiency Pasqualini syndrome leydig cell hypoplasia due to LHB deficiency 46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency |
|
| has material basis in | ||
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:0090091 |
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| in_subset | ||
| label |
hypogonadotropic hypogonadism 23 with or without anosmia |
|
| notation |
DOID:0090091 |
|
| note |
A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the LHB gene on chromosome 19q13. |
|
| preferred label |
hypogonadotropic hypogonadism 23 with or without anosmia |
|
| prefLabel |
hypogonadotropic hypogonadism 23 with or without anosmia |
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| subClassOf |