Kallmann Syndrome
"Kallmann Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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.
Descriptor ID |
D017436
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MeSH Number(s) |
C12.706.316.096.750 C13.351.875.253.096.750 C16.131.939.316.096.750 C16.320.467 C19.391.119.096.750 C19.391.482.600
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Concept/Terms |
Kallmann Syndrome- Kallmann Syndrome
- Syndrome, Kallmann
- Anosmic Idiopathic Hypogonadotropic Hypogonadism
- Dysplasia Olfactogenitalis of De Morsier
- Hypogonadotropic Hypogonadism-Anosmia Syndrome
- Kallmann's Syndrome
- Kallmanns Syndrome
- Syndrome, Kallmann's
- Anosmic Hypogonadism
- Anosmic Hypogonadisms
- Hypogonadism, Anosmic
- Hypogonadisms, Anosmic
- Hypogonadotropic Hypogonadism and Anosmia
Kallmann Syndrome 3- Kallmann Syndrome 3
- Hypogonadotropic Hypogonadism, Anosmia, and Midline Cranial Anomalies (Cleft Lip, Cleft Palate and Imperfect Fusion)
- Kallmann Syndrome, Type 3, Recessive
- Autosomal Recessive Form of Kallmann Syndrome
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Below are MeSH descriptors whose meaning is more general than "Kallmann Syndrome".
Below are MeSH descriptors whose meaning is more specific than "Kallmann Syndrome".
This graph shows the total number of publications written about "Kallmann Syndrome" by people in this website by year, and whether "Kallmann Syndrome" was a major or minor topic of these publications.
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Year | Major Topic | Minor Topic | Total |
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2016 | 0 | 1 | 1 |
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Below are the most recent publications written about "Kallmann Syndrome" by people in Profiles.
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Hong S, Hu P, Marino J, Hufnagel SB, Hopkin RJ, Toromanovic A, Richieri-Costa A, Ribeiro-Bicudo LA, Kruszka P, Roessler E, Muenke M. Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome. Hum Mol Genet. 2016 05 15; 25(10):1912-1922.
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