Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
otomandibular dysplasia	MONDO_0015482
coloboma of inferior eyelid	MONDO_0015481	[Coloboma of inferior eyelid is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral, partial or full-thickness, variably sized defect of the inferior eyelid (ranging from a small notch to complete absence of the entire lid) which is usually triangular in shape (with base at eyelid margin) and located on the lateral third of the lid. It can occur isolated, associated with facial clefting or as part of a syndrome.]
coloboma of superior eyelid	MONDO_0015480	[Coloboma of superior eyelid is a rare developmental defect during embryogenesis characterized by a typically unilateral, partial or full-thickness, variably sized defect of the superior eyelid, ranging from a small notch to complete absence of the entire lid, which is commonly triangular in shape (with base at eyelid margin) and located on the medial third of the lid. It can occur isolated, associated with other anomalies (e.g. ocular/orbital and facial), or as part of a syndrome.]
fatal infantile encephalocardiomyopathy	MONDO_0015487	[Fatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy.]
hexadecanedioate(2-)	CHEBI_76276	[A dicarboxylic acid dianion obtained by deprotonation of both carboxy groups of hexadecanedioic acid; major species at pH 7.3.]
paralytic facial malformation	MONDO_0015499
lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy	MONDO_0015493
hypoglossia/aglossia	MONDO_0015497
macroglossia	MONDO_0015496	[The presence of an excessively large tongue, which may be congenital or may develop as a result of a tumor or edema due to obstruction of lymphatic vessels, or it may occur in association with hyperpituitarism or acromegaly. It also may be associated with malocclusion because of pressure of the tongue on the teeth. (From Jablonski, Dictionary of Dentistry, 1992)]
dodecanedioate(2-)	CHEBI_76273	[A dicarboxylic acid dianion obtained by deprotonation of both carboxy groups of dodecanedioic acid; major species at pH 7.3.]
tetradecanedioate (2-)	CHEBI_76281	[A dicarboxylic acid dianion obtained by deprotonation of both carboxy groups of tetradecanedioic acid; major species at pH 7.3.]
suberate(2-)	CHEBI_76282	[A dicarboxylic acid dianion obtained by deprotonation of both carboxy groups of suberic acid; major species at pH 7.3.]
sebacate(2-)	CHEBI_76283	[A dicarboxylic acid dianion obtained by deprotonation of both carboxy groups of suberic acid; major species at pH 7.3.]
hindgut anlage	FBbt_00004202
ventral ectoderm anlage	FBbt_00004204
Elevated circulating C-reactive protein concentration	HP_0011227	[An abnormal elevation of the C-reactive protein level in the blood circulation.]
lufenuron	CHEBI_39384	[A benzoylurea insecticide that has formula C17H8Cl2F8N2O3. Commonly used in flea treatments., This gene is involved in cell adhesion, differentiation, division and stress response.]
Prominent forehead	HP_0011220	[Forward prominence of the entire forehead, due to protrusion of the frontal bone.]
obsolete_scapula	EFO_0001400	[Either of a pair of large triangular bones lying one in each dorsal lateral scapula: part of the thorax, being the principal bone of the corresponding half of the shoulder girdle, and articulating with the corresponding clavicle or coracoid., The flat triangle-shaped bone that connects the humerus with the clavicle in the back of the shoulder.]
obsolete_trigeminal nerve	EFO_0001402	[The fifth set of paired nerves of the face that emerge from the brain steam. These nerves have sensory and motor functions in the face, oral cavity, and nasal cavity., Either of the fifth pair of cranial nerves, having sensory and motor functions in the face, teeth, mouth, and nasal cavity.]