Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
parameningeal embryonal rhabdomyosarcoma	DOID_0060338	[An embryonal rhabdomyosarcoma located in the parameningeal region.]
CEDNIK syndrome	DOID_0060337	[A syndrome that has_material_basis_in homozygous mutation in the SNAP29 gene and characterized by a unique constellation of clinical manifestations including microcephaly, severe neurologic impairment, psychomotor retardation, failure to thrive, facial dysmoprhism, palmoplantar keratoderma and late-onset ichthyosis.]
susceptibility to human immunodeficiency virus type 1	OMIM_609423
autosomal dominant sideroblastic anemia 4	DOID_0060335	[A sideroblastic anemia characterized by an autosomal dominant inheritance pattern.]
transient neonatal diabetes mellitus	DOID_0060334	[A neonatal diabetes mellitus characterized by hyperglycemia during the neonatal period that remits during infancy but recurs in later life in most patients.]
mitochondrial complex V (ATP synthase) deficiency nuclear type 4	DOID_0060333	[A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATP5A1 gene on chromosome 18q.]
external integument structure	UBERON_3000961
pituitary stalk	UBERON_0002434
diaphragm	UBERON_0001103
mitochondrial complex V (ATP synthase) deficiency nuclear type 3	DOID_0060332	[A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATP5E gene on chromosome 20q13.]
mitochondrial complex V (ATP synthase) deficiency nuclear type 2	DOID_0060331	[A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the TMEM70 gene on chromosome 8q21.]
obsolete coxsackie endocarditis	DOID_1806	[A coxsackie carditis that results_in inflammation located_in endocardium, has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions.]
Rapp-Hodgkin syndrome	DOID_0060330	[An ectodermal dysplasia characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth and sweat glands and anhidrotic ectodermal dysplasia with cleft lip/palate.]
obsolete coxsackie carditis	DOID_1805	[An Enterovirus infectious disease that results_in inflammation located_in heart, has_material_basis_in Human enterovirus B, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions.]
obsolete coxsackie pericarditis	DOID_1804	[A coxsackie carditis that results_in inflammation located_in pericardium, has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom acute chest pain, has_symptom disturbance of heart rate, and has_symptom dyspnea.]
obsolete secondary malignant neoplasm to the pancreas	DOID_1801
neuroendocrine carcinoma	DOID_1800	[A carcinoma that derives_from neuroendocrine cells.]
ectopic pregnancy	DOID_0060329	[A female reproductive system disease characterized by the implantation of the embryo outside the uterine cavity.]
anal fistula	DOID_0060328	[An anus disease characterized by is an abnormal connection between the epithelialised surface of the anal canal and the perianal skin.]
omphalocele	DOID_0060327	[A physical disorder characterized by a defect in the development of the abdominal wall muscles, resulting in the intestines, liver and other organs to remain outside of the abdomen in a sac.]