Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_brachydactyly type A2	Orphanet_93396
obsolete_Ballard syndrome	Orphanet_93395
obsolete_brachydactyly type A4	Orphanet_93394
isolated hyperchlorhidrosis	MONDO_0007747
genetic epidermal appendage anomaly	MONDO_0021026	[An instance of epidermal appendage anomaly that is caused by a modification of the individual's genome.]
cholesterol-ester transfer protein deficiency	MONDO_0007744
hyperalphalipoproteinemia	MONDO_0015903	[An autosomal dominant genetic condition caused by mutation(s) in the CETP gene, encoding cholesteryl ester transfer protein. Affected individuals may have increased longevity due to decreased risk of coronary heart disease.]
Podoviridae	NCBITaxon_10744
Wagner disease	MONDO_0007740	[Wagner disease is a rare hereditary vitreoretinopathy characterized by an anomaleous vitreous associated with myopia, cataract, chorioretinal atrophy, and peripheral tractional or rhegmatogenous retinal detachment.]
congenital hydronephrosis	MONDO_0007741	[Congenital hydronephrosis is a renal urinary disease characterized by distension and dilation of the renal pelvis and calyces secondary to various congenital obstructive malformations of the kidneys and urinary tract that can evolve to renal atrophy.]
chitin	CHEBI_17029	[A N-acylglucosamine that has formula (C8H13NO5)n., An aminoglycan that has formula (C8H13NO5)n.]
Exercise intolerance	HP_0003546	[A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and gender.]
atypical hemolytic-uremic syndrome with anti-factor H antibodies	MONDO_0019739
atypical hemolytic-uremic syndrome with H factor anomaly	MONDO_0019738
tubulointerstitial kidney disease, autosomal dominant, 2	MONDO_0020726	[An inherited disorder that causes a gradual loss of kidney function, caused by a mutation in the MUC1 gene that leads to production of an abnormal mucin 1 protein, which deposits in the kidney and leads to slow loss of kidney function.]
autosomal dominant medullary cystic kidney disease with or without hyperuricemia	MONDO_0008264	[A genetic kidney disease that causes progressive loss of kidney function caused by mutations in the genes encoding uromodulin (UMOD), hepatocyte nuclear factor-1β (HNF1B), renin (REN), or mucin-1 (MUC1).]
Shoulder girdle muscle weakness	HP_0003547	[The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refers to lack of strength of the muscles attaching to these bones, that is, lack of strength of the muscles around the shoulders.]
vitamin D-dependent rickets, type 1A	MONDO_0020723
vitamin D-dependent rickets, type 1	MONDO_0009924	[Hypocalcemic vitamin D-dependent rickets (VDDR-I) is an early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia.]
nephrolithiasis susceptibility caused by SLC26A1	MONDO_0020722