All terms in DOID

Label Id Description
hypogonadotropic hypogonadism 1 with or without anosmia DOID_0090094 [A hypogonadotropic hypogonadism that has_material_basis_in mutation in the KAL1 gene on chromosome Xp22.3, sometimes in association with mutation in another gene.]
hypogonadotropic hypogonadism 23 with or without anosmia DOID_0090091 [A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the LHB gene on chromosome 19q13.]
hypogonadotropic hypogonadism 3 with or without anosmia DOID_0090092 [A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the PROKR2 gene on chromosome 20p12, sometimes in association with mutation in another gene.]
susceptibility to autism 15 MIM_612100
susceptibility to autism 17 MIM_613436
hypogonadotropic hypogonadism 20 with or without anosmia DOID_0090082 [A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGF17 gene on chromosome 8p21, sometimes in association with mutations in other genes.]
hypogonadotropic hypogonadism 2 with or without anosmia DOID_0090083 [A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGFR1 gene on chromosome 8p11, sometimes in association with mutation in other genes.]
hypogonadotropic hypogonadism 16 with or without anosmia DOID_0090080 [A hypogonadotropic hypogonadism that has_material_basis_in mutation in the SEMA3A gene on chromosome 7, sometimes in association with mutations in other genes.]
hypogonadotropic hypogonadism 22 with or without anosmia DOID_0090081 [A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the FEZF1 gene on chromosome 7q31.]
hypogonadotropic hypogonadism 6 with or without anosmia DOID_0090086 [A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the FGF8 gene on chromosome 10q24, sometimes in association with mutation in another gene.]
hypogonadotropic hypogonadism 14 with or without anosmia DOID_0090087 [A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the WDR11 gene on chromosome 10q26.]
hypogonadotropic hypogonadism 5 with or without anosmia DOID_0090084 [A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the CHD7 gene on chromosome 8q12.]
hypogonadotropic hypogonadism 9 with or without anosmia DOID_0090085 [A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the NELF gene on chromosome 9q34, sometimes in association with mutation in another gene.]
hypogonadotropic hypogonadism 24 without anosmia DOID_0090088 [A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the FSHB gene on chromosome 11p14.]
hypogonadotropic hypogonadism 10 with or without anosmia DOID_0090089 [A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the TAC3 gene on chromosome 12q13.]
hypogonadotropic hypogonadism 11 with or without anosmia DOID_0090071 [A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the TACR3 gene on chromosome 4q24.]
hypogonadotropic hypogonadism 12 with or without anosmia DOID_0090072 [A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the GNRH1 gene on chromosome 8p21.]
obsolete uterine corpus smooth muscle neoplasm DOID_5290
hypogonadotropic hypogonadism 15 with or without anosmia DOID_0090075 [A hypogonadotropic hypogonadism that has_material_basis_in mutation in the HS6ST1 gene on chromosome 2q14, sometimes in association with mutations in other genes.]
hypogonadotropic hypogonadism 18 with or without anosmia DOID_0090076 [A hypogonadotropic hypogonadism that has_material_basis_in heterozygous or homozygous mutation in the IL17RD gene on chromosome 3p14, sometimes in association with mutation in other genes.]