Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_isolated anterior cervical hypertrichosis	Orphanet_3387
L2d-dauer molt	EFO_0005510	[C. elegans stage when the larval shifts from L2d larva to dauer larva. It includes the synthesis of new cuticle, cease of phrayngeal pumping during a lethargus stage, and the shed off of old cuticle. ]
imipramine	CHEBI_47499
obsolete_humerus trochlea aplasia	Orphanet_3383
Short stature-optic atrophy-Pelger-Huët anomaly syndrome	Orphanet_391677
progesterone receptor status	EFO_0005513	[quantification of progesterone receptors in breast cancer. PR status is used in the classification of breast cancers.]
pyridoxal phosphate-responsive seizures	MONDO_0012407	[Pyridoxal phosphate-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate.]
inborn disorder of pyridoxine metabolism	MONDO_0019237	[An acquired metabolic disease that is has its basis in the disruption of pyridoxine metabolic process.]
HER2 status	EFO_0005514	[quantification of the level of human epidermal growth factor receptor 2 (HER2) in a tumor. Amplification or overexpression of the HER2 oncogene plays a role in the development and progression of some breast cancers. ]
post dauer stage	EFO_0005511	[C. elegans stage right after a larva recovered from dauer but has not started transformation to L4 larva yet.]
estrogen receptor status	EFO_0005512	[quantification of the level of estrogen receptors in a tumor]
RIP-Chip by array	EFO_0005517	[RIP-Chip refers to the immunoprecipitation of RNPs from cell extracts and the subsequent microarray analysis of associated RNA molecules.]
sample collection protocol	EFO_0005518	[Describes the procedure whereby biological samples for an experiment are sourced.]
MORM syndrome	MONDO_0012423	[MORM syndrome is characterised by the association of intellectual deficit, truncal obesity, retinal dystrophy and micropenis. It has been described in 14 individuals from a consanguineous family. It is transmitted in an autosomal recessive manner. The causative locus has been mapped to chromosome region 9q34.]
obsolete_Feingold syndrome type 1	Orphanet_391641	[Feingold syndrome type 1 (FS1) is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies.]
non-narcotic analgesic	CHEBI_35481	[A drug that has principally analgesic, antipyretic and anti-inflammatory actions. Non-narcotic analgesics do not bind to opioid receptors.]
anaerobic cellulitis	MONDO_0024414
autosomal dominant polycystic liver disease	MONDO_0000447	[An autosomal dominant inherited condition characterized by many cysts of various sizes scattered throughout the liver.]
obsolete_Feingold syndrome type 2	Orphanet_391646	[Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1; see this term) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures.]
bile duct carcinoma	EFO_0005540	[A carcinoma that arises from epithelial cells of the bile duct]