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All terms in EFO

Label	Id	Description
renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss	MONDO_0009968
body odor measurement	EFO_0008386	[Quantification of body odor, a perceived unpleasant smell given off by the body]
caudate nucleus measurement	EFO_0008387	[Quantification of some aspect of the caudate nucleus, part of the basal ganglia of the brain, primarily associated with voluntary movement and reward.]
caudate nucleus	UBERON_0001873	[Subcortical nucleus of telecephalic origin consisting of an elongated gray mass lying lateral to and bordering the lateral ventricle. It is divided into a head, body and tail in some species.]
NPHP3-related Meckel-like syndrome	MONDO_0009966
gamma wave measurement	EFO_0008388	[Quantification of the wave-like oscillations in the alpha band (8-13 Hz) of electric potential between parts of the brain]
Perlman syndrome	MONDO_0009965	[Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism.]
short-rib thoracic dysplasia 9 with or without polydactyly	MONDO_0009964	[An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13.]
Ulbright-Hodes syndrome	MONDO_0009963	[Ulbright-Hodes syndrome is characterised by renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion, rib abnormalities, anomalies of the external genitalia and a potter-like facies. The syndrome has been described in three infants (one pair of sibs and an unrelated case), all of whom died shortly after birth from respiratory distress resulting from pulmonary hypoplasia and oligohydramnios caused by renal dysplasia. The mode of transmission appears to be autosomal recessive.]
cerebrocostomandibular syndrome	MONDO_0007301	[Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis.]
X-13431--nonanoylcarnitine measurement	EFO_0021349	[Quantification of the amount of X-13431--nonanoylcarnitine in a sample.]
X-13429 measurement	EFO_0021348	[Quantification of the amount of X-13429 in a sample.]
Charcot-Marie-Tooth disease type 2B	MONDO_0010949	[Autosomal dominant Charcot-Marie-Tooth disease type 2B (CMT2B) is a severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2B onset, in the 2nd or 3rd decade, is characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood.]
Neonatal hypotonia	HP_0001319	[Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period.]
docosapentaenoate n3 DPA; 22:5n3-to-X-12627 ratio	EFO_0021389	[Quantification of the ratio of docosapentaenoate n3 DPA; 22:5n3 to X-12627 in a sample.]
X-12038-to-bradykinin, des-arg 9 ratio	EFO_0021388	[Quantification of the ratio of X-12038 to bradykinin, des-arg 9 in a sample.]
Hypoglycemic coma	HP_0001325
obsolete_oculodental syndrome, Rutherfurd type	Orphanet_2709
obesity due to prohormone convertase I deficiency	MONDO_0010961	[Prohormone convertase-I deficiency is the rarest form of monogenic obesity. The disorder is characterised by severe childhood obesity, hypoadrenalism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones.]
propionylcarnitine-to-isovalerylcarnitine ratio	EFO_0021385	[Quantification of the ratio of propionylcarnitine to isovalerylcarnitine in a sample.]