Kallmann Syndrome 1

Preferred Label : Kallmann Syndrome 1;

NCIt definition : The X-linked inherited form of Kallmann syndrome caused by mutation of the KAL1 gene mapped to chromosome Xp22.3.;

Détails

Origin ID

C75480;

UMLS CUI

C1563719;

Currated CISMeF NLP mapping
- Hypogonadotropic hypogonadism 1 with or without anosmia [OMIM Phenotype]
- hypogonadotropic hypogonadism 1 with or without anosmia [DO Concept]
- kallmann syndrome [MeSH Descriptor]
- kallmann syndrome 1 [MeSH concept]
Has associated anatomic sites
- Endocrine Gland [NCIt concept]
- Endocrine System [NCIt concept]
- Genitourinary System [NCIt concept]
- Gonad [NCIt concept]
- Reproductive System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hypogonadotropic hypogonadism 1 with or without anosmia [OMIM Phenotype]
- hypogonadotropic hypogonadism 1 with or without anosmia [DO Concept]
- kallmann syndrome 1 [MeSH concept]
Validated automatic mappings to NTBT
- Anosmic congenital hypogonadotropic hypogonadism [ICD-11 More detail]
- Hypogonadism with anosmia (disorder) [SNOMED CT concept]
- Kallman's syndrome [MedDRA LLT]
- Kallmann syndrome [Disease (Nov.)]
- Kallmann syndrome [ORDO Disease]
- Kallmann syndrome [DO Concept]
- Kallmann syndrome [PASCAL descriptor]
- Kallmann's syndrome [MedDRA LLT]
- de Morsier-Kallman's syndrome [MedDRA LLT]
- kallmann syndrome [MeSH concept]
disease_has_finding
- Congenital Lesion [NCIt concept]
disease_has_primary_anatomic_site
- Endocrine System [NCIt concept]
- Genitourinary System [NCIt concept]
- Gonad [NCIt concept]
- Reproductive System [NCIt concept]
disease_mapped_to_gene
- ANOS1 Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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