Experimental Factor Ontology

Last uploaded: November 18, 2024
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Preferred Name

obsolete_Kallmann syndrome
Synonyms

Congenital hypogonadotropic hypogonadism with anosmia

Olfacto-genital pathological sequence
Definitions

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).
ID

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

true
database_cross_reference

OMIM:614897

OMIM:614840

OMIM:614880

UMLS:C0162809

OMIM:616030

OMIM:615267

OMIM:615266

OMIM:615269

OMIM:244200

ICD10:E23.0

MedDRA:10053142

OMIM:615271

OMIM:615270

OMIM:614858

OMIM:618841

OMIM:614837

OMIM:614838

MeSH:D017436

OMIM:147950

OMIM:612370

OMIM:612702

OMIM:610628

OMIM:308700
definition

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).
definition_citation

orphanet
deprecated

true
has_exact_synonym

Congenital hypogonadotropic hypogonadism with anosmia

Olfacto-genital pathological sequence
label

obsolete_Kallmann syndrome
obsoleted_in_version

3.41.0
preferred label

obsolete_Kallmann syndrome
prefLabel

obsolete_Kallmann syndrome
reason_for_obsolescence

Replaced with Mondo term.
term replaced by

http://purl.obolibrary.org/obo/MONDO_0018800
subClassOf

http://www.w3.org/2002/07/owl#Thing
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