Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
inborn disorder of proline metabolism	MONDO_0017355	[An acquired metabolic disease that is has its basis in the disruption of proline metabolic process.]
inborn disorder of ornithine metabolism	MONDO_0017356	[An acquired metabolic disease that is has its basis in the disruption of ornithine metabolic process.]
obsolete_COG5-CDG	Orphanet_263487	[Congenital disorder of glycosylation type IIi (CDG-IIi) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia.]
GM14679	CLO_0031953	[NON-OBESE CONTROLS APPARENTLY HEALTHY NON-FETAL TISSUE]
Spondyloepiphyseal dysplasia, Maroteaux type	Orphanet_263482	[Spondyloepiphyseal dysplasia, Maroteaux type is a very rare type of spondyloepiphyseal dysplasia (see this term) described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis.]
Leptospira interrogans serovar Lai str. 56601	NCBITaxon_189518
pantothenic acid	CHEBI_7916	[A member of the class of pantothenic acids that is an amide formed from pantoic acid and beta-alanine.]
obsolete pigmented villonodular synovitis	MONDO_0006906
Anopheles funestus	NCBITaxon_62324
SELENON-related myopathy	MONDO_0100100	[Myopathy caused by pathogenic variants in SELENON that is congenital or present early in childhood with neonatal hypotonia, delayed motor development, axial muscle weakness, scoliosis, and significant respiratory involvement. Spinal rigidity of varying severity is often present.]
fetal akinesia deformation sequence 1	MONDO_0100101	[Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the MUSK gene.]
glomerulonephritis	MONDO_0002462	[A renal disorder characterized by damage in the glomeruli. It may be acute or chronic, focal or diffuse, and it may lead to renal failure. Causes include autoimmune disorders, infections, diabetes, and malignancies.]
left ventricular noncompaction	MONDO_0018901	[Left ventricular noncompaction (LVNC) is a rare cardiomyopathy characterized anatomically by prominent left ventricular trabeculae and deep intratrabecular recesses causing progressive systolic and diastolic dysfunction, conduction abnormalities, and occasionally thromboembolic events.]
Esophageal stenosis	HP_0010450	[An abnormal narrowing of the lumen of the esophagus.]
hypotrichosis simplex	MONDO_0018914	[Hypotrichosis simplex (HS) or hereditary hypotrichosis simplex (HHS) is characterized by reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies.]
ribonucleoside triphosphate biosynthetic process	GO_0009201	[ The chemical reactions and pathways resulting in the formation of a ribonucleoside triphosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with triphosphate on the sugar. ]
ribonucleoside triphosphate metabolic process	GO_0009199	[ The chemical reactions and pathways involving a ribonucleoside triphosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with triphosphate on the sugar. ]
nucleoside triphosphate biosynthetic process	GO_0009142	[ The chemical reactions and pathways resulting in the formation of a nucleoside triphosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with triphosphate on the sugar. ]
isolated anorectal malformation	MONDO_0018916	[Anorectal malformations (ARM) comprise a wide spectrum of malformations involving the distal anus and rectum as well as the urinary and genital tracts, which can affect boys and girls.]
anorectal malformation	MONDO_0019938