Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Crohn ileitis	MONDO_0000709	[An Crohn disease involving a pathogenic inflammatory response in the ileum.]
small bowel Crohn's disease	EFO_0005629	[An Crohn disease involving a pathogenic inflammatory response in the small intestine., Small bowel Crohn's disease is a chronic inflammatory bowel disease affecting the small instestine.]
ischemic colitis	MONDO_0000701	[Inflammation of the colon due to colonic ischemia resulting from alterations in systemic circulation or local vasculature.]
Plasmodium chabaudi chabaudi	NCBITaxon_31271
obsolete_unilateral multicystic dysplastic kidney	Orphanet_97363
obsolete_bilateral multicystic dysplastic kidney	Orphanet_97364
Hypocholesterolemia	HP_0003146	[An decreased concentration of cholesterol in the blood.]
renal tubular acidosis, distal, 4, with hemolytic anemia	MONDO_0012700	[Distal renal tubular acidosis (dRTA) with anemia is a very rare form of distal renal tubular acidosis (dRTA) characterized by a defect in renal acidification and hereditary hemolytic anemia.]
Ear pain	HP_0030766	[Pain in the ear can be a consequence of otologic disease (primary or otogenic otalgia), or can arise from pathologic processes and structures other than the ear (secondary or referred otalgia).]
cataract 12 multiple types	MONDO_0012701	[A cataract that has material basis in heterozygous mutation in the gene encoding beaded filament structural protein-2 (BFSP2) on chromosome 3q22.]
obsolete_renal tubular dysgenesis of genetic origin	Orphanet_97369
X-linked intellectual disability - ataxia - apraxia	Orphanet_85338
X-linked intellectual disability, Zorick type	Orphanet_85337
obsolete_Robinow syndrome	Orphanet_97360	[Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia.]
Sparus aurata	NCBITaxon_8175
Unilateral renal hypoplasia	Orphanet_97361	[Unilateral renal hypoplasia is a form of renal hypoplasia (see this term), a renal developmental anomaly in which one kidney is small and has a deficit in the number of present nephrons.]
Genetic non-syndromic renal or urinary tract malformation	Orphanet_357506
Bilateral renal hypoplasia	Orphanet_97362	[Bilateral renal hypoplasia is a form of renal hypoplasia (see this term), a renal developmental anomaly in which both kidneys are small and have a deficit in the number of present nephrons.]
X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis	Orphanet_85330
obsolete_X-linked intellectual disability-retinitis pigmentosa syndrome	Orphanet_85332