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