JSON

hypogonadotropic hypogonadism 1 with or without anosmia

Go to external page http://purl.obolibrary.org/obo/MONDO_0010635

The X-linked inherited form of Kallmann syndrome caused by mutation of the KAL1 gene mapped to chromosome Xp22.3. [ NCIT:C75480 ]

Synonyms: hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), X-linked recessive ANOS1 hypogonadotropic hypogonadism hypogonadotropic hypogonadism 1 with or without anosmia dysplasia olfactogenitalis of de Morsier hypogonadotropic hypogonadism caused by mutation in ANOS1

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:3071 (OMIM:308700)
  • UMLS:C1563719 (OMIM:308700)
  • ICD10CM:E23.0 (MONDO:relatedTo)
  • OMIM:308700 (MONDO:equivalentTo)
  • NCIT:C75480 (MONDO:equivalentTo)
  • DOID:0090094 (MONDO:equivalentTo)
Subsets

gard_rare, rare, nord_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4521

exactMatch

http://purl.obolibrary.org/obo/NCIT_C75480

https://omim.org/entry/308700

http://purl.obolibrary.org/obo/DOID_0090094

http://linkedlifedata.com/resource/umls/id/C1563719

has related synonym

KMS

HH1

dysplasia Olfactogenitalis of De Morsier

anosmic hypogonadism

hypogonadotropic hypogonadism and anosmia

Kallmann syndrome, type 1, X-linked

KAL1

Kallmann syndrome 1

Kallmann syndrome, X-linked

id

MONDO:0010635

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0010635

Term relations

Subclass of: