loading...| Preferred Name | hypogonadotropic hypogonadism 1 with or without anosmia | |
| Synonyms |
Kallmann syndrome, type 1, X-linked hypogonadotropic hypogonadism and anosmia Kallmann syndrome, X-linked anosmic hypogonadism Kallmann syndrome 1 dysplasia Olfactogenitalis of De Morsier HH1 KAL1 KMS hypogonadotropic hypogonadism caused by mutation in ANOS1 ANOS1 hypogonadotropic hypogonadism hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), X-linked recessive dysplasia olfactogenitalis of de Morsier hypogonadotropic hypogonadism 1 with or without anosmia |
|
| Definitions |
The X-linked inherited form of Kallmann syndrome caused by mutation of the KAL1 gene mapped to chromosome Xp22.3. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0010635 |
|
| curated_content_resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0010635 |
|
| database_cross_reference |
NCIT:C75480 DOID:0090094 MEDGEN:295872 UMLS:C1563719 OMIM:308700 ICD10CM:E23.0 GARD:3071 |
|
| definition |
The X-linked inherited form of Kallmann syndrome caused by mutation of the KAL1 gene mapped to chromosome Xp22.3. |
|
| has_exact_synonym |
hypogonadotropic hypogonadism caused by mutation in ANOS1 ANOS1 hypogonadotropic hypogonadism hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), X-linked recessive dysplasia olfactogenitalis of de Morsier hypogonadotropic hypogonadism 1 with or without anosmia |
|
| has_related_synonym |
Kallmann syndrome, type 1, X-linked hypogonadotropic hypogonadism and anosmia Kallmann syndrome, X-linked anosmic hypogonadism Kallmann syndrome 1 dysplasia Olfactogenitalis of De Morsier HH1 KAL1 KMS |
|
| IAO_0000233 | ||
| id |
MONDO:0010635 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#clingen |
|
| label |
hypogonadotropic hypogonadism 1 with or without anosmia |
|
| notation |
MONDO:0010635 |
|
| preferred label |
hypogonadotropic hypogonadism 1 with or without anosmia |
|
| prefLabel |
hypogonadotropic hypogonadism 1 with or without anosmia |
|
| skos_exactMatch |
http://linkedlifedata.com/resource/umls/id/C1563719 http://purl.obolibrary.org/obo/NCIT_C75480 |
|
| subClassOf |