Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Achondrogenesis type 1A	Orphanet_93299	[Achondrogenesis type 1A (ACG1A), a form of achondrogenesis (see this term), is a very rare, lethal skeletal dysplasia characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage.]
Synechococcus phage S-RSM2	NCBITaxon_264653
Achondrogenesis type 1B	Orphanet_93298	[Achondrogenesis type 1B (ACG1B), a form of achondrogenesis (see this term), is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage.]
3-Indolepropionic acid to Taurocholic acid sodium salt hydrate ratio	EFO_0021691	[Quantification of the ratio of 3-Indolepropionic acid to Taurocholic acid sodium salt hydrate ratio in a sample.]
obsolete_hypochondrogenesis	Orphanet_93297
L-Glutamine to 3-Indolepropionic acid ratio	EFO_0021690	[Quantification of the ratio of L-Glutamine to 3-Indolepropionic acid ratio in a sample.]
Achondrogenesis type 2	Orphanet_93296	[Achondrogenesis type 2 (ACG2), a form of achondrogenesis (see this term), is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders (see this term), characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage.]
10-trans,12-cis-octadecadienoic acid	CHEBI_44526	["An octadeca-10,12-dienoic acid having 10-trans,12-cis-configuration." []]
Okihiro syndrome	Orphanet_93293	[Le résumé pour cette maladie est en cours de production. Cependant, vous pouvez accéder à d'autres données sur cette maladie à partir du menu « Informations complémentaires » situé à droite sur cette page.]
fatal familial insomnia	MONDO_0010808	[Fatal familial insomnia (FFI) is a very rare form of prion disease characterized by subacute onset of insomnia showing as a reduced overall sleep time, autonomic dysfunction, and motor disturbances.]
insomnia	EFO_0004698	[Disorders characterized by impairment of the ability to initiate or maintain sleep. This may occur as a primary disorder or in association with another medical or psychiatric condition, A sleep disorder characterized by difficulty in falling asleep and/or remaining asleep.]
5-oxoprolinase deficiency	MONDO_0009825	[5-Oxoprolinase deficiency is clinically a very heterogeneous condition characterized by 5-oxoprolinuria.]
primary hyperoxaluria type 2	MONDO_0009824	[Primary hyperoxaluria (PH) type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase (GR/HPR) characterized by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis.]
primary hyperoxaluria type 1	MONDO_0009823	[A rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement.]
lethal osteosclerotic bone dysplasia	MONDO_0009821	[Lethal osteosclerotic bone dysplasia is defined by generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course.]
pancreatic hypoplasia-diabetes-congenital heart disease syndrome	MONDO_0010802	[Pancreatic hypoplasia-diabetes-congenital heart disease syndrome is characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis).]
osteoporosis-pseudoglioma syndrome	MONDO_0009820	[Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures.]
spondylocamptodactyly syndrome	MONDO_0010801	[Spondylo-camptodactyly syndrome is characterized by camptodactyly, flattened cervical vertebral bodies and variable degrees of thoracic scoliosis.]
Female infertility due to fertilization defect	Orphanet_404469
Rare genetic female infertility	Orphanet_400008