Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
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.]
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 larynx sarcoma that is a smooth muscle connective tissue tymor located_in the larynx.]
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	[A primary immunodeficiency disease 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.]