Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
complement component 1 q subcomponent-binding protein, mitochondrial measurement	EFO_0020280	[The determination of the amount of complement component 1 q subcomponent-binding protein, mitochondrial in a sample]
complement component C6 measurement	EFO_0020281	[The determination of the amount of complement component C6 in a sample]
complement component C9 measurement	EFO_0020282	[The determination of the amount of complement component C9 in a sample]
Tension-type headache	HP_0012228	[A type of headache that last hours with continuous pain of mild or moderate intensity, bilateral location, a pressing/tightening (non-pulsating) quality and that is not aggravated by routine physical activity such as walking or climbing stairs.]
complement factor D measurement	EFO_0020283	[The determination of the amount of complement factor D in a sample]
Urethral stricture	HP_0012227	[Narrowing of the urethra associated with inflammation or scar tissue.]
palmoplantar keratoderma-sclerodactyly syndrome	MONDO_0008416
ulnar-mammary syndrome	MONDO_0008411	[Ulnar-mammary syndrome (UMS) is a rare developmental disorder characterized by ulnar defects, mammary and apocrine gland hypoplasia and genital anomalies. Delayed puberty dental anomalies, short stature and obesity have also been described.]
Scheuermann disease	MONDO_0008410	[A disorder characterized by osteochondrosis of the vertebral epiphyses in childhood.]
obsolete_3q13 microdeletion syndrome	Orphanet_1621
obsolete_Distal monosomy 3p	Orphanet_1620
obsolete_combined oxidative phosphorylation defect type 9	Orphanet_319509
obsolete_exercise-induced hyperinsulinism	Orphanet_165991
Singleton-Merten dysplasia	MONDO_0008429	[Singleton-Merten dysplasia is characterized by dental dysplasia, progressive calcification of the thoracic aorta with stenosis, osteoporosis and expansion of the marrow cavities in hand bones. Additional features included generalized muscle weakness and atrophy, and chronic psoriasiform skin eruptions. It has been reported in four unrelated patients (male and female) and in a family with multiple affected members (male).]
septooptic dysplasia	MONDO_0008428	[Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects.]
combined pituitary hormone deficiencies, genetic form	MONDO_0013099	[Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy.]
Shprintzen-Goldberg syndrome	MONDO_0008426	[Shprintzen-Goldberg syndrome (SGS) is a very rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability.]
omphalocele syndrome, Shprintzen-Goldberg type	MONDO_0008425	[Shprintzen-Goldberg omphalocele syndrome is a very rare inherited malformation syndrome characterized by omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities.]
Conjunctival Melanoma	EFO_1000204	[A malignant melanoma within the conjunctiva of the eye.]
conjunctival cancer	MONDO_0003454	[A malignant neoplasm involving the conjunctiva.]