Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome	MONDO_0008915	[A syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH).]
organ donor	EFO_0009634	[Someone from whom an organ is removed for transplantation or other purpose. [ NCI ]]
dickkopf‐related protein 1 measurement	EFO_0010620	[quantification of dickkopf‐related protein 1 in a sample]
blood donor	EFO_0009635	[Someone from whom blood is removed for transfusion or other purpose. [ NCI ]]
cardiac valvular defect, developmental	MONDO_0008913
convalescence	EFO_0009630	[A processual entity during which a patient participating in a disease course gradually returns to participating in a canonical life course.]
fall	EFO_0009631	[A sudden movement downward, usually resulting in injury. [ NCI ]]
Irish	HANCESTRO_0383
European	HANCESTRO_0005	[Includes individuals who either self-report or have been described by authors as European, Caucasian, White or one of the sub-populations from this region (e.g Dutch). This category also includes individuals who genetically cluster with reference populations from this region, for example 1000 Genomes and/or HapMap CEU, FIN, GBR, IBS and TSI populations.]
Republic of Ireland	Republic_of_Ireland
cesarean section	EFO_0009636	[Surgical delivery of one or more intrauterine fetuses though an abdominal incision. [NCIT]]
pleural effusion	EFO_0009637	[Increased amount of fluid within the pleural cavity. Symptoms include shortness of breath, cough, and chest pain. It is usually caused by lung infections, congestive heart failure, pleural and lung tumors, connective tissue disorders, and trauma. [NCIT]]
spontaneous labor and birth	EFO_0009638	[Initiation of labor without the use of pharmacological and/or mechanical interventions, resulting in a non-operative vaginal birth. [NCIT]]
Braxton-Hicks contractions	EFO_0009639	[Irregular infrequent uterine contractions typically characteristic of the third trimester of pregnancy that do not result in cervical change or labor. [def-source: NCI][attr: NICHD]]
obsolete_defect in conserved oligomeric Golgi complex	Orphanet_309568
immunophenotype	EFO_0010649	[The characteristics of a set of cells according to the (surface level) antigens expressed.]
anus disease	EFO_0009660	[A non-neoplastic or neoplastic disorder that affects the anal canal or anal margin. Representative examples of non-neoplastic disorders include hemorrhoids and anal ulcer. Representative examples of neoplastic disorders include carcinoma, lymphoma, and melanoma. [database_cross_reference: NCIt:C26695], A non-neoplastic or neoplastic disorder that affects the anal canal or anal margin. Representative examples of non-neoplastic disorders include hemorrhoids and anal ulcer. Representative examples of neoplastic disorders include carcinoma, lymphoma, and melanoma.]
rectal disease	EFO_0009685	[A disease that involves the rectum., A disease that involves the rectum. [database_cross_reference: MONDO:patterns/location]]
STAT3 gain of function	EFO_0010647	[STAT3 GOF is a rare genetic disorder of the immune system. Signal transducer and activator of transcription 3 (STAT3) is a transcription factor which is encoded by the STAT3 gene in humans. Germline gain-of-function (GOF) mutations in the gene STAT3 causes this early-onset autoimmune disease characterized by lymphadenopathy, autoimmune cytopenias, multiorgan autoimmunity, infections, eczema, and short stature.]
obsolete_syndromic nail anomaly	Orphanet_79370