Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Bartter syndrome	MONDO_0015231	[Bartter syndrome is a group of rare renal tubular disease characterized by impaired salt reabsorption in the thick ascending limb of Henle's loop and clinically by the association of hypokalemic alkalosis, hypercalciuria/nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II.]
calicheamicin gamma1(I)	CHEBI_3319
GM17752	CLO_0016561	[HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100]
GM17749	CLO_0016564	[HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100]
Cystic renal dysplasia	HP_0000800
3-hydroxy-3-methylglutaric acid	CHEBI_16831	[A dicarboxylic acid that is glutaric acid in which one of the two hydrogens at position 3 is substituted by a hydroxy group, while the other is substituted by a methyl group. It has been found to accumulate in urine of patients suffering from HMG-CoA lyase (3-hydroxy-3-methylglutaryl-CoA lyase, EC 4.1.3.4) deficiency. It occurs as a plant metabolite in Crotalaria dura.]
GM17746	CLO_0016566	[HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100]
neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities	MONDO_0100348	[An autosomal recessive disorder characterized by global developmental delay apparent in infancy. Affected individuals have delayed walking with variable gait abnormalities, impaired intellectual development with poor or absent speech and language, and progressive microcephaly. More variable features include hypotonia, early-onset seizures, and a peripheral demyelinating or axonal peripheral sensorimotor neuropathy. The disease follows a neurodegenerative course in many patients; clinical features suggest involvement of both the central and peripheral nervous systems.]
Familial osteochondritis dissecans	Orphanet_251262	[Familial osteochondritis dissecans is a rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence.]
GM17747	CLO_0016565	[HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100]
Impotence	HP_0000802	[Inability to develop or maintain an erection of the penis.]
obsolete_atypical pantothenate kinase-associated neurodegeneration	Orphanet_216873
disorder of defective peroxisome oxidative status	MONDO_0100306	[Any peroxisomal single enzyme/protein defect that has its basis in the disruption of peroxisome oxidation.]
Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome	Orphanet_300333
Basement membrane disease	Orphanet_93550
Bifid ribs	HP_0000892	[A bifid rib refers to cleavage of the sternal end of a rib, usually unilateral. Bifid ribs are usually asymptomatic, and are often discovered incidentally by chest x-ray.]
Retrograde ejaculation	HP_0012877	[The emission of semen and seminal fluid into the bladder instead of through the penis during orgasm.]
obsolete_Congenital blindness due to retinal non-attachment	Orphanet_300337
obsolete_severe lateral tibial bowing with short stature	Orphanet_324307
Absent vas deferens	HP_0012873	[Aplasia (congenital absence) of the vas deferens.]