loading...| Preferred Name | Kallmann syndrome | |
| Synonyms |
Congenital hypogonadotropic hypogonadism with anosmia Olfacto-genital pathological sequence |
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| 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). |
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| ID |
http://www.orpha.net/ORDO/Orphanet_478 |
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| alternative_term |
Congenital hypogonadotropic hypogonadism with anosmia Olfacto-genital pathological sequence |
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| 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). |
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| definition_citation |
Orphanet |
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=478 |
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| has_age_of_onset |
Adolescent Childhood |
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| has_inheritance |
Multigenic/multifactorial Autosomal recessive X-linked recessive Autosomal dominant |
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| hasDbXref |
OMIM:614897 OMIM:614840 OMIM:614880 UMLS:C0162809 OMIM:616030 OMIM:615267 OMIM:615266 OMIM:615269 OMIM:244200 MedDRA:10053142 OMIM:615271 OMIM:615270 OMIM:614858 ICD-11:5A61.2 ICD-10:E23.0 OMIM:618841 OMIM:614837 OMIM:614838 MeSH:D017436 OMIM:147950 OMIM:612370 OMIM:612702 OMIM:610628 OMIM:308700 |
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| label |
Kallmann syndrome |
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| notation |
Clinical subtype ORPHA:478 |
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| part_of | ||
| prefixIRI |
ORDO:Orphanet_478 |
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| prefLabel |
Kallmann syndrome |
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| present_in |
Europe AND has_point_prevalence_average_value : 3.75 AND has_point_prevalence_range : 1-9 / 100 000 Specific population AND has_annual_incidence_average_value : 0.6 AND has_annual_incidence_range : 1-9 / 1 000 000 Finland AND has_annual_incidence_average_value : 2.1 AND has_annual_incidence_range : 1-9 / 100 000 France AND has_annual_incidence_average_value : 5.0 AND has_annual_incidence_range : 1-9 / 100 000 |
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| treeView | ||
| subClassOf |