DISEASES Urogenital Diseases [C12] Urogenital Diseases Female Urogenital Diseases and Pregnancy Complications [C12.050] Female Urogenital Diseases and Pregnancy Complications Female Urogenital Diseases [C12.050.351] Female Urogenital Diseases Urogenital Abnormalities [C12.050.351.875] Urogenital Abnormalities Disorders of Sex Development [C12.050.351.875.253] Disorders of Sex Development Disorder of Sex Development, 46,XY [C12.050.351.875.253.096] Disorder of Sex Development, 46,XY Androgen-Insensitivity Syndrome [C12.050.351.875.253.096.500] Androgen-Insensitivity Syndrome Denys-Drash Syndrome [C12.050.351.875.253.096.562] Denys-Drash Syndrome Frasier Syndrome [C12.050.351.875.253.096.624] Frasier Syndrome Gonadal Dysgenesis, 46,XY [C12.050.351.875.253.096.687] Gonadal Dysgenesis, 46,XY Kallmann Syndrome [C12.050.351.875.253.096.750] Kallmann Syndrome WAGR Syndrome [C12.050.351.875.253.096.875] WAGR Syndrome DISEASES Urogenital Diseases [C12] Urogenital Diseases Male Urogenital Diseases [C12.200] Male Urogenital Diseases Urogenital Abnormalities [C12.200.706] Urogenital Abnormalities Disorders of Sex Development [C12.200.706.316] Disorders of Sex Development Disorder of Sex Development, 46,XY [C12.200.706.316.096] Disorder of Sex Development, 46,XY Androgen-Insensitivity Syndrome [C12.200.706.316.096.500] Androgen-Insensitivity Syndrome Denys-Drash Syndrome [C12.200.706.316.096.562] Denys-Drash Syndrome Frasier Syndrome [C12.200.706.316.096.624] Frasier Syndrome Gonadal Dysgenesis, 46,XY [C12.200.706.316.096.687] Gonadal Dysgenesis, 46,XY Kallmann Syndrome [C12.200.706.316.096.750] Kallmann Syndrome WAGR Syndrome [C12.200.706.316.096.875] WAGR Syndrome DISEASES Urogenital Diseases [C12] Urogenital Diseases Urogenital Abnormalities [C12.800] Urogenital Abnormalities Disorders of Sex Development [C12.800.316] Disorders of Sex Development Disorder of Sex Development, 46,XY [C12.800.316.096] Disorder of Sex Development, 46,XY Androgen-Insensitivity Syndrome [C12.800.316.096.500] Androgen-Insensitivity Syndrome Denys-Drash Syndrome [C12.800.316.096.562] Denys-Drash Syndrome Frasier Syndrome [C12.800.316.096.624] Frasier Syndrome Gonadal Dysgenesis, 46,XY [C12.800.316.096.687] Gonadal Dysgenesis, 46,XY Kallmann Syndrome [C12.800.316.096.750] Kallmann Syndrome WAGR Syndrome [C12.800.316.096.875] WAGR Syndrome DISEASES Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormalities [C16.131] Congenital Abnormalities Urogenital Abnormalities [C16.131.939] Urogenital Abnormalities Disorders of Sex Development [C16.131.939.316] Disorders of Sex Development Disorder of Sex Development, 46,XY [C16.131.939.316.096] Disorder of Sex Development, 46,XY Androgen-Insensitivity Syndrome [C16.131.939.316.096.500] Androgen-Insensitivity Syndrome Denys-Drash Syndrome [C16.131.939.316.096.562] Denys-Drash Syndrome Frasier Syndrome [C16.131.939.316.096.624] Frasier Syndrome Gonadal Dysgenesis, 46,XY [C16.131.939.316.096.687] Gonadal Dysgenesis, 46,XY Kallmann Syndrome [C16.131.939.316.096.750] Kallmann Syndrome WAGR Syndrome [C16.131.939.316.096.875] WAGR Syndrome DISEASES Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn [C16.320] Genetic Diseases, Inborn Adrenal Hyperplasia, Congenital [C16.320.033] Adrenal Hyperplasia, Congenital Alagille Syndrome [C16.320.051] Alagille Syndrome alpha 1-Antitrypsin Deficiency [C16.320.060] alpha 1-Antitrypsin Deficiency Anemia, Hemolytic, Congenital [C16.320.070] Anemia, Hemolytic, Congenital Anemia, Hypoplastic, Congenital [C16.320.077] Anemia, Hypoplastic, Congenital Ataxia Telangiectasia [C16.320.080] Ataxia Telangiectasia Autoimmune Lymphoproliferative Syndrome [C16.320.089] Autoimmune Lymphoproliferative Syndrome Blood Coagulation Disorders, Inherited [C16.320.099] Blood Coagulation Disorders, Inherited Brugada Syndrome [C16.320.100] Brugada Syndrome CADASIL [C16.320.129] CADASIL Camurati-Engelmann Syndrome [C16.320.144] Camurati-Engelmann Syndrome Cardiomyopathy, Hypertrophic, Familial [C16.320.160] Cardiomyopathy, Hypertrophic, Familial CHARGE Syndrome [C16.320.165] CHARGE Syndrome Cherubism [C16.320.170] Cherubism Chromosome Disorders [C16.320.180] Chromosome Disorders Ciliopathies [C16.320.184] Ciliopathies Costello Syndrome [C16.320.188] Costello Syndrome Cystic Fibrosis [C16.320.190] Cystic Fibrosis Donohue Syndrome [C16.320.215] Donohue Syndrome Dwarfism [C16.320.240] Dwarfism Eye Diseases, Hereditary [C16.320.290] Eye Diseases, Hereditary Familial Multiple Lipomatosis [C16.320.298] Familial Multiple Lipomatosis Frasier Syndrome [C16.320.306] Frasier Syndrome GATA2 Deficiency [C16.320.314] GATA2 Deficiency Genetic Diseases, X-Linked [C16.320.322] Genetic Diseases, X-Linked Genetic Diseases, Y-Linked [C16.320.338] Genetic Diseases, Y-Linked Hajdu-Cheney Syndrome [C16.320.355] Hajdu-Cheney Syndrome Hemoglobinopathies [C16.320.365] Hemoglobinopathies Hereditary Autoinflammatory Diseases [C16.320.382] Hereditary Autoinflammatory Diseases Heredodegenerative Disorders, Nervous System [C16.320.400] Heredodegenerative Disorders, Nervous System Hyper-IgM Immunodeficiency Syndrome [C16.320.413] Hyper-IgM Immunodeficiency Syndrome Hyperthyroxinemia, Familial Dysalbuminemic [C16.320.427] Hyperthyroxinemia, Familial Dysalbuminemic Kallmann Syndrome [C16.320.467] Kallmann Syndrome Kartagener Syndrome [C16.320.480] Kartagener Syndrome Laminopathies [C16.320.488] Laminopathies Lennox Gastaut Syndrome [C16.320.495] Lennox Gastaut Syndrome Loeys-Dietz Syndrome [C16.320.510] Loeys-Dietz Syndrome Marfan Syndrome [C16.320.540] Marfan Syndrome Metabolism, Inborn Errors [C16.320.565] Metabolism, Inborn Errors Muscular Dystrophies [C16.320.577] Muscular Dystrophies Myasthenic Syndromes, Congenital [C16.320.590] Myasthenic Syndromes, Congenital Nail-Patella Syndrome [C16.320.600] Nail-Patella Syndrome Neoplastic Syndromes, Hereditary [C16.320.700] Neoplastic Syndromes, Hereditary Oculocerebrorenal Syndrome [C16.320.709] Oculocerebrorenal Syndrome Orofaciodigital Syndromes [C16.320.714] Orofaciodigital Syndromes Osteoarthropathy, Primary Hypertrophic [C16.320.718] Osteoarthropathy, Primary Hypertrophic Osteochondrodysplasias [C16.320.728] Osteochondrodysplasias Osteogenesis Imperfecta [C16.320.737] Osteogenesis Imperfecta Pain Insensitivity, Congenital [C16.320.775] Pain Insensitivity, Congenital Pelger-Huet Anomaly [C16.320.784] Pelger-Huet Anomaly Primary Immunodeficiency Diseases [C16.320.798] Primary Immunodeficiency Diseases Pycnodysostosis [C16.320.812] Pycnodysostosis Renal Tubular Transport, Inborn Errors [C16.320.831] Renal Tubular Transport, Inborn Errors Skin Diseases, Genetic [C16.320.850] Skin Diseases, Genetic Werner Syndrome [C16.320.925] Werner Syndrome Yellow Nail Syndrome [C16.320.962] Yellow Nail Syndrome DISEASES Endocrine System Diseases [C19] Endocrine System Diseases Gonadal Disorders [C19.391] Gonadal Disorders Disorders of Sex Development [C19.391.119] Disorders of Sex Development Disorder of Sex Development, 46,XY [C19.391.119.096] Disorder of Sex Development, 46,XY Androgen-Insensitivity Syndrome [C19.391.119.096.500] Androgen-Insensitivity Syndrome Denys-Drash Syndrome [C19.391.119.096.562] Denys-Drash Syndrome Frasier Syndrome [C19.391.119.096.624] Frasier Syndrome Gonadal Dysgenesis, 46,XY [C19.391.119.096.687] Gonadal Dysgenesis, 46,XY Kallmann Syndrome [C19.391.119.096.750] Kallmann Syndrome WAGR Syndrome [C19.391.119.096.875] WAGR Syndrome DISEASES Endocrine System Diseases [C19] Endocrine System Diseases Gonadal Disorders [C19.391] Gonadal Disorders Hypogonadism [C19.391.482] Hypogonadism Eunuchism [C19.391.482.293] Eunuchism Kallmann Syndrome [C19.391.482.600] Kallmann Syndrome Klinefelter Syndrome [C19.391.482.629] Klinefelter Syndrome Sexual Infantilism [C19.391.482.814] Sexual Infantilism

Kallmann Syndrome - Preferred

Concept UI	M0026453
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.
Preferred term	Kallmann Syndrome
Entry term(s)	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 Syndrome, Kallmann's

Kallmann Syndrome 1 - Narrower

Concept UI	M0472223
Scope note	Type 1 is the X-linked form with mutations of gene Kal1 which encodes anosmin-1 protein that plays a key role in the migration of GNRH-containing neurons and olfactory nerves to the HYPOTHALAMUS.
Preferred term	Kallmann Syndrome 1
Entry term(s)	Kallmann Syndrome, Type 1, X-linked

Kallmann Syndrome 3 - Narrower

Concept UI	M0530007
Preferred term	Kallmann Syndrome 3
Entry term(s)	Autosomal Recessive Form of Kallmann Syndrome Hypogonadotropic Hypogonadism, Anosmia, and Midline Cranial Anomalies (Cleft Lip, Cleft Palate and Imperfect Fusion) Kallmann Syndrome, Type 3, Recessive

Kallmann Syndrome 2 - Narrower

Concept UI	M0472224
Scope note	Type 2 is an autosomal dominant form with loss-of-function mutations of gene Kal2 which encodes fibroblast growth-factor receptor-1 (FGFR1 PROTEIN).
Preferred term	Kallmann Syndrome 2
Entry term(s)	Autosomal Dominant Form of Kallmann Syndrome