Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
chromosome 17p13.1 deletion syndrome	MONDO_0013415
short stature-heart defect-craniofacial anomalies syndrome	MONDO_0015206
ankyloblepharon filiforme-imperforate anus syndrome	MONDO_0015201	[An extremely rare developmental defect during embryogenesis malformation syndrome characterized by bands of extensile tissue connecting the margins of the upper and lower eyelids, in association with anal atresia. Patients may additionally present cleft palate, hydrocephalus and meningomyelocele. There have been no further descriptions in the literature since 1993.]
erythrocytosis, familial, 6	MONDO_0054801
Actinobacillus pleuropneumoniae serovar 2	NCBITaxon_34063
meninges hemangiopericytoma	MONDO_0003223	[A solitary fibrous tumor/hemangiopericytoma that arises from the meninges.]
Mus musculus domesticus	NCBITaxon_10092
Mus musculus castaneus	NCBITaxon_10091
intestinal malformation	MONDO_0019999
syndromic gastroduodenal malformation	MONDO_0015210	[A gastroduodenal malformation that is part of a larger syndrome.]
obsolete_multiple epiphyseal dysplasia, Al-Gazali type	Orphanet_166024
obsolete_multiple epiphyseal dysplasia, with severe proximal femoral dysplasia	Orphanet_166029
obsolete syndrome with limb malformations as a major feature	MONDO_0015226
arthrogryposis syndrome	MONDO_0015225
pentasomy X	MONDO_0015228	[Pentasomy X is a sex chromosome anomaly caused by the presence of three extra X chromosomes in females (49,XXXXX instead of 46,XX).]
obsolete_multiple epiphyseal dysplasia, Beighton type	Orphanet_166011
gonorrhea	DOID_7551	[A common sexually transmitted bacterial infection caused by Neisseria gonorrhoeae. It is transmitted through vaginal, oral, or anal intercourse. Infected individuals may be asymptomatic. Symptoms in males include burning sensation during urination, discharge from the penis, and painful swelling of the testes. Symptoms in females include painful urination, vaginal discharge, and vaginal bleeding between periods. If untreated, the infection may lead to pelvic inflammatory disease., A primary bacterial infectious disease that is a sexually transmitted infection, located_in uterus, located_in fallopian tube, located_in urethra, located_in mouth, located_in throat, located_in eye or located_in anus, has_material_basis_in Neisseria gonorrhoeae, which is transmitted_by contact with the penis, vagina, mouth, or anus or transmitted_by congenitally from mother to baby during delivery. The infection has_symptom burning sensation during urination, has_symptom discharge from the penis, has_symptom increased vaginal discharge, or has_symptom vaginal bleeding between periods.]
hepatocellular clear cell carcinoma	MONDO_0003243	[A morphologic variant of hepatocellular carcinoma characterized by the presence of clear cells.]
obsolete_multiple epiphyseal dysplasia, Lowry type	Orphanet_166016
arrhinia-choanal atresia-microphthalmia syndrome	MONDO_0015238	[Arhinia-choanal atresia-microphthalmia is a malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.]