loading...| Preferred Name | Kallmann syndrome | |
| Synonyms |
hypogonadotropic hypogonadism with anosmia Olfacto-genital pathological sequence Kallman's syndrome Kallman syndrome congenital hypogonadotropic hypogonadism with anosmia hypogonadism with anosmia familial hypogonadism with anosmia |
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| Definitions |
Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs). |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0018800 |
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| closeMatch | ||
| database_cross_reference |
UMLS:C0162809 NCIT:C75479 MedDRA:10053142 Orphanet:478 MESH:D017436 NANDO:2200381 SCTID:93559003 MEDGEN:102469 ICD10CM:E23.0 DOID:3614 GARD:10771 ICD9:253.4 NORD:1319 |
|
| definition |
Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs). |
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| exactMatch |
http://purl.obolibrary.org/obo/NCIT_C75479 http://identifiers.org/mesh/D017436 http://purl.obolibrary.org/obo/Orphanet_478 http://purl.obolibrary.org/obo/DOID_3614 http://linkedlifedata.com/resource/umls/id/C0162809 |
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| has_exact_synonym |
hypogonadotropic hypogonadism with anosmia Olfacto-genital pathological sequence Kallman's syndrome Kallman syndrome congenital hypogonadotropic hypogonadism with anosmia hypogonadism with anosmia familial hypogonadism with anosmia |
|
| id |
MONDO:0018800 |
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| 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 |
Kallmann syndrome |
|
| notation |
MONDO:0018800 |
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| preferred label |
Kallmann syndrome |
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| prefLabel |
Kallmann syndrome |
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| subClassOf |