All terms in DOID

Label Id Description
mediastinum leiomyosarcoma DOID_5292 [A leiomyosarcoma and sarcoma of the mediastinum that derive_from smooth muscle and are usually located_in the esophagus or located_in the main vessels.]
hypogonadotropic hypogonadism 13 with or without anosmia DOID_0090073 [A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the KISS1 gene on chromosome 1q32.]
obsolete adult leiomyosarcoma DOID_5291
hypogonadotropic hypogonadism 8 with or without anosmia DOID_0090074 [A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the KISS1R gene on chromosome 19p13, sometimes in association with mutation in other genes.]
vagina leiomyosarcoma DOID_5283 [A vagina sarcoma that has_material_basis_in smooth muscle.]
hypogonadotropic hypogonadism 17 with or without anosmia DOID_0090079 [A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the SPRY4 gene on chromosome 5q31, sometimes in association with mutations in other genes.]
prostate leiomyosarcoma DOID_5282 [A prostate sarcoma that is located_in the prostate.]
breast leiomyosarcoma DOID_5285 [A breast sarcoma that arises from smooth muscle cells.]
hypogonadotropic hypogonadism 4 with or without anosmia DOID_0090077 [A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the prokineticin-2 gene (PROK2) on chromosome 3p13, sometimes in association with mutation in another gene.]
retroperitoneal leiomyosarcoma DOID_5284
retroperitoneal sarcoma DOID_12341 [A malignant retroperitoneal cancer and sarcoma that is located_in the retroperitoneal space.]
hypogonadotropic hypogonadism 7 with or without anosmia DOID_0090078 [A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the GNRHR gene on chromosome 4q13, sometimes in association with mutation in another gene. No patients with anosmia have been reported.]
kidney leiomyosarcoma DOID_5287 [A leiomyosarcoma and sarcoma of kidney that is located_in the kidney.]
vulvar leiomyosarcoma DOID_5286 [A vulvar sarcoma that has_material_basis_in smooth muscle cells.]
larynx leiomyosarcoma DOID_5288 [A leiomyosarcoma located_in the larynx.]
susceptibility to neural tube defects MIM_182940
susceptibility to basal cell carcinoma 7 MIM_614740
susceptibility to autism 16 MIM_613410
Wolcott-Rallison syndrome DOID_0090060 [A syndrome that is characterized by permanent neonatal diabetes mellitus with multiple epiphyseal dysplasia, osteoporosis, growth retardation and frequently hepatic and renal dysfunction that has_material_basis_in homozygous mutation in the eukaryotic translation initiation factor 2 alpha kinase 3 (EIF2AK3) gene on chromosome 2p11.2.]
familial cold autoinflammatory syndrome DOID_0090061 [An autoinflammatory disease that is characterized by recurrent episodes of maculopapular skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia.]