Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
congenital pseudoarthrosis of the radius	MONDO_0017465
congenital pseudoarthrosis of the ulna	MONDO_0017466
tibio-fibular synostosis	MONDO_0017467	[Tibio-fibular synostosis is a rare, non-syndromic limb malformation characterized by fusion of the proximal or distal tibial and fibular metaphysis and/or diaphysis, frequently associated with distal positioning of the proximal tibiofibular joint, leg length discrepancy, bowing of the fibula, and valgus deformity of the knee.]
syndactyly type 6	MONDO_0017460	[Syndactyly type 6 is a rare, genetic, non-syndromic, congenital limb malformation characterized by unilateral fusion of second to fifth fingers, amalgamation of distal phalanges in a knot-like structure, and second- and third-toe fusion. Some individuals present only with webbing between second and third toes, without involvement of fingers.]
familial isolated clinodactyly of fingers	MONDO_0017461	[Familial isolated clinodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation characterized by angulation of a digit in the radio-ulnar (coronal) plane, away from the axis of joint flexion-extension, in several members of a single family with no other associated manifestations. Deviation is usually bilateral and commonly involves the fifth finger. Affected digits present trapezoidal or delta-shaped phalanges on imaging.]
congenital pseudoarthrosis of the tibia	MONDO_0017462	[A condition characterized by non-union of the tibia, which is present at birth. It is usually associated with neurofibromatosis type 1.]
congenital pseudoarthrosis of the femur	MONDO_0017463
molar	UO_0000062	[A molar is a unit of molarity which expresses a concentration of 1 mole of solute per liter of solution (mol/L)., A unit of concentration which expresses a concentration of 1 mole of solute per liter of solution (mol/L).]
nanomolar	UO_0000065	[A unit of molarity which is equal to one thousandth of one millionth of a molar or 10^[-9] M.]
picomolar	UO_0000066	[A unit of molarity which is equal to 10^[-12] M.]
184B5 cell	BTO_0002180	["The 184A1N4 and 184B5 cell lines are nontumorigenic cell lines derived from primary cultures of HMECs that were immortalized with benzo(a)pyrene." [PMID:15827326]]
millimolar	UO_0000063	[A unit of molarity which is equal to one thousandth of a molar or 10^[-3] M., A millimolar is a unit of molarity which is equal to one thousandth of a molar or 10^-3 M.]
micromolar	UO_0000064	[A unit of molarity which is equal to one millionth of a molar or 10^[-6] M.]
2-palmitoyl-sn-glycero-3-phosphocholine	CHEBI_76078	[A lysophosphatidylcholine 16:0 in which the acyl group is specified as palmitoyl (hexadecanoyl) and is located at position 2.]
amelia of upper limb, bilateral	MONDO_0017479
Pseudomonas syringae pv. tomato str. DC3000	NCBITaxon_223283
upper limb hypertrophy	MONDO_0017476
lower limb hypertrophy	MONDO_0017477	[Lower limb hypertrophy is a rare, genetic, non-syndromic developmental defect during embryogenesis characterized by uni- or bilateral overgrowth of lower limbs involving bones and/or soft tissues and resulting in an abnormal increase in leg length and/or width. Hypertrophy presents either as a proportionate overgrowth of entire limb or involves only the proximal or distal parts of it. Phenotype ranges from mild hypertrophy without functional disability to massively hypertrophied limb with knee flexion and ankle equinus contractures and macrodystrophia lipomatosa. Patients may also present vascular abnormalities (e.g. cutaneous angiomas, varicose veins) and myalgia.]
2-oleoyl-sn-glycero-3-phosphocholine	CHEBI_76071	[A lysophosphatidylcholine 18:1 in which the acyl group is specified as oleoyl and is located at position 2.]
amelia of upper limb, unilateral	MONDO_0017478