Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
hydroxyproline measurement	EFO_0010498	[Quantification of hydroxyproline levels in a sample.]
hyodeoxycholate measurement	EFO_0010499	[Quantification of hyodeoxycholate levels in a sample.]
hippuric acid measurement	EFO_0010496	[Quantification of hippuric acid levels in a sample.]
guanosine diphosphate measurement	EFO_0010494	[Quantification of guanosine diphosphate levels in a sample.]
guanosine monophosphate measurement	EFO_0010495	[Quantification of guanosine monophosphate levels in a sample.]
glycocholic acid measurement	EFO_0010492	[Quantification of glycocholic acid levels in a sample.]
bronchiectasis with or without elevated sweat chloride 1	MONDO_0008887
idiopathic bronchiectasis	MONDO_0018956	[Idiopathic bronchiectasis (IB) is a progressive lung disease characterized by chronic dilation of the bronchi and destruction of the bronchial walls in the absence of any underlying cause (such as post infectious disease, aspiration, immunodeficiency, congenital abnormalities and ciliary anomalies).]
glycodeoxycholate measurement	EFO_0010493	[Quantification of glycodeoxycholate levels in a sample.]
glycochenodeoxycholate measurement	EFO_0010490	[Quantification of glycochenodeoxycholate levels in a sample.]
Elsahy-Waters syndrome	MONDO_0008885	[An extremely rare multiple congenital anomalies/dysmorphic syndrome, described in three boys from one family, and characterized by intellectual disability, hypertelorism, broad and flat nasal bridge, maxillary hypoplasia, mandibular prognathism, bifid uvula or partial cleft palate, multiple dental cysts, Schmorl nodes, fused cervical spinous processes, pectus excavatum, and penoscrotal hypospadias. There have been no further descriptions in the literature since 1971.]
glycocholate measurement	EFO_0010491	[Quantification of glycocholate levels in a sample.]
oculoosteocutaneous syndrome	MONDO_0008884	[A syndrome is characterised by congenital anodontia, a small maxilla, short stature with shortened metacarpals and metatarsals, sparse hair, albinoidism and multiple ocular anomalies. It has been described in three siblings (one brother and two sisters). Transmission is autosomal recessive.]
ventral mesenchyme	UBERON_2000164
congenital bowing of long bones	MONDO_0008882	[Long bone bowing is a congenital condition described by the presence of symmetric or asymmetric angular deformity and shortening of the long bones, particularly the femurs, tibiae and ulnae.]
congenital deformities of limbs	MONDO_0017427
bent bone dysplasia	MONDO_0019698
umbilical cord blood	UBERON_0012168	[Blood that remains in the placenta and in the attached umbilical cord after childbirth[WP].]
Molar tooth sign on MRI	HP_0002419	[An abnormal appearance of the midbrain in axial magnetic resonance imaging in which the elongated superior cerebellar peduncles give the midbrain an appearance reminiscent of a molar or wisdom tooth.]
kyphomelic dysplasia	MONDO_0008881	[Kyphomelic dysplasia is a prenatal skeletal disease that causes dwarfism characterized bythe following: a disproportionately short stature with a short narrow chest,shortening and bending (bowing)of the limbs, flared irregular metaphyses of the bones, and characteristicfacial features.Bone changes are said to improve with age.Kyphomelic dysplasia is inherited in an autosomal recessive pattern. Recent studies indicate that Kyphomelic dysplasia is no longerconsidered it's ownentity and that individual cases should be further evaluated andre-classified as another existing chondrodysplasias, such as Schwartz-Jampel syndrome.]