Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
spermatogenic failure 29	MONDO_0054733
Orchesella cincta	NCBITaxon_48709
congenital enterocyte heparan sulfate deficiency	MONDO_0015171	[Congenital enterocyte heparan sulphate deficiency is characterised by massive enteric protein loss, secretory diarrhoea, and intolerance to enteral feeds during the first few weeks of life.]
obsolete_genetic hypertension	Orphanet_156629
obsolete_20p13 microdeletion syndrome	Orphanet_313781
granular cell carcinoma	MONDO_0003197	[An adenocarcinoma characterized by the presence of malignant epithelial cells with granular cytoplasm.]
obsolete_seborrhea-like dermatitis with psoriasiform elements	Orphanet_168606
anus cancer	MONDO_0001879	[A malignant neoplasm involving the anus]
obsolete_congenital enteropathy due to enteropeptidase deficiency	Orphanet_168601
appendix cancer	MONDO_0001235	[A malignant neoplasm involving the vermiform appendix]
amyotrophic lateral sclerosis, susceptibility to, 24	MONDO_0054750
encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8	MONDO_0054754
obsolete_Jawad syndrome	Orphanet_313795
phosphatidylcholine 40:6	CHEBI_64431	[A 1,2-diacyl-sn-glycero-3-phosphocholine in which the two acyl groups contain forty carbons in total with six double bonds.]
phosphatidylcholine 36:2	CHEBI_64433	[A 1,2-diacyl-sn-glycero-3-phosphocholine in which the acyl groups at C-1 and C-2 contain 36 carbons in total and 2 double bonds.]
Fanconi anemia, complementation group S	MONDO_0054748
3-(imidazol-5-yl)lactic acid	CHEBI_27487	[A 2-hydroxy monocarboxylic acid that is lactic acid in which one of the methyl hydrogens has been replaced by an imidazol-5-yl group.]
phosphatidylcholine 34:3	CHEBI_64424	[A 1,2-diacyl-sn-glycero-3-phosphocholine in which the acyl groups at C-1 and C-2 contain 34 carbons in total with 3 double bonds.]
atresia of urethra	MONDO_0015195	[Atresia of the urethra is a rare congenital bladder outlet obstruction, a fetal lower urinary tract obstruction (fetal LUTO), that is usually fatal. Unless there is some other egress for the urine to escape the bladder, such as patent urachus or anuro-rectal communication, these lesions are not compatible with renal development.]
aniridia - intellectual disability syndrome	MONDO_0015199	[Aniridia-intellectual disability syndrome is an extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia and cataracts. There have been no further descriptions in the literature since 1974.]