Concept information
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Congenital Abnormalities
Urogenital Abnormalities
Disorders of Sex Development
Disorder of Sex Development, 46,XY
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Female Urogenital Diseases
Urogenital Abnormalities
Disorders of Sex Development
Disorder of Sex Development, 46,XY
Preferred term
Kallmann Syndrome
Type
-
Topical Descriptor
Broader concept
Entry terms
- Anosmic Hypogonadism
- Anosmic Hypogonadisms
- Anosmic Idiopathic Hypogonadotropic Hypogonadism
- Dysplasia Olfactogenitalis of De Morsier
- Hypogonadism, Anosmic
- Hypogonadisms, Anosmic
- Hypogonadotropic Hypogonadism and Anosmia
- Hypogonadotropic Hypogonadism-Anosmia Syndrome
- Kallmann's Syndrome
- Kallmanns Syndrome
- Syndrome, Kallmann's
Scope note
- A genetically heterogeneous disorder caused by hypothalamic GNRH deficiency and OLFACTORY NERVE defects. It is characterized by congenital HYPOGONADOTROPIC HYPOGONADISM and ANOSMIA, possibly with additional midline defects. It can be transmitted as an X-linked (GENETIC DISEASES, X-LINKED), an autosomal dominant, or an autosomal recessive trait.
History note
- 93
In other languages
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Finnish
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Kallman
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Kallmann
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Kallmannin syndrooma
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syndroma Kallmann
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Swedish
URI
http://www.yso.fi/onto/mesh/D017436
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