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Kallmann syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0018800

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). [ Orphanet:478 ]

Synonyms: hypogonadotropic hypogonadism with anosmia Kallman's syndrome familial hypogonadism with anosmia Olfacto-genital pathological sequence hypogonadism with anosmia congenital hypogonadotropic hypogonadism with anosmia Kallman syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • NORD:1319 (MONDO:NORD)
  • GARD:10771 (Orphanet:478)
  • DOID:3614 (MONDO:equivalentTo)
  • ICD9:253.4 (MONDO:relatedTo)
  • MESH:D017436 (Orphanet:478/e)
  • Orphanet:478 (MONDO:equivalentTo)
  • SCTID:93559003 (MONDO:equivalentTo)
  • MedDRA:10053142 (Orphanet:478/e)
  • ICD10CM:E23.0 (Orphanet:478/ntbt)
  • UMLS:C0162809 (Orphanet:478/e)
  • NCIT:C75479 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare

closeMatch

http://identifiers.org/meddra/10053142

exactMatch

http://identifiers.org/mesh/D017436

http://purl.obolibrary.org/obo/DOID_3614

http://www.orpha.net/ORDO/Orphanet_478

http://linkedlifedata.com/resource/umls/id/C0162809

http://purl.obolibrary.org/obo/NCIT_C75479

http://identifiers.org/snomedct/93559003

id

MONDO:0018800

Term relations