Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
exfoliative ichthyosis	MONDO_0017339	[Exfoliative ichthyosis is an inherited, non-syndromic, congenital ichthyosis characterized by the infancy-onset of palmoplantar peeling of the skin (aggravated by exposure to water and by occlusion) associated with dry, scaly skin over most of the body. Pruritus and hypohidrosis may also be associated. Well-demarcated areas of denuded skin appear in moist and traumatized regions and skin biopsies reveal reduced cell-cell adhesion in the basal and suprabasal layers, prominent intercellular edema, numerous aggregates of keratin filaments in basal keratinocytes, attenuated cornified cell envelopes, and epidermal barrier impairment.]
middle ear	UBERON_0001756	[The middle ear is the air-filled cavity within the skull of vertebrates that lies between the outer ear and the inner ear. It is linked to the pharynx (and therefore to outside air) via the Eustachian tube and in mammals contains the three ear ossicles, which transmit auditory vibrations from the outer ear (via the tympanum) to the inner ear (via the oval window)[GO].]
ichthyosis-cheek-eyebrow syndrome	MONDO_0007811	[Ichthyosis-cheek-eyebrow syndrome is characterised by ichthyosis, prominent full cheeks and sparse lateral eyebrows. It has been described in several individuals from four generations of one family. Transmission is autosomal dominant.]
primitive olfactory epithelium	UBERON_2001431
olfactory placode	UBERON_0003050	[A thick plate of cells derived from the neural ectoderm in the head region of the embryo that develops into the olfactory region of the nasal cavity.]
L-ascorbic acid	CHEBI_29073	[The L- enatiomer of ascorbic acid and conjugate acid of L-ascorbate; an essential nutrient and antioxidant with possible anticancer role, especially with intravenous administration. A cofactor in several enzymatic reactions of living organisms, it is linked with effective wound healing and prevention or treatment of scurvy and gout. Also known as vitamin C, it is believed to boost the immune system. Humans alone of the primates require exogenous sources of daily vitamin C., An ascorbic acid that has formula C6H8O6.]
tracheomalacia	MONDO_0019804	[Congenital tracheomalacia is a rare condition where the trachea is soft and flexible causing the tracheal wall to collapse when exhaling, coughing or crying, that usually presents in infancy, and that is characterized by stridor and noisy breathing or upper respiratory infections. Tracheomalacia improves by the age of 18-24 months.]
tracheal anomaly	MONDO_0015505
primary adrenal insufficiency	MONDO_0015128	[A hormonal disorder that occurs when the adrenal glands fail to release adequate amounts of glucocorticoids (cortisol), mineralocorticoids (aldosterone, 11-deoxycorticosterone), and androgens (dehydroepiandrosterone) to meet physiologic needs, despite release of ACTH from the pituitary.]
chronic hepatic porphyria	MONDO_0019800	[Chronic hepatic porphyrias represent a sub-group of porphyrias. They are characterized by bullous photodermatitis caused by a deficiency of uroporphyrinogen decarboxylase (URO-D; the fifth enzyme in the heme biosynthesis pathway). Chronic hepatic porphyria encompasses two diseases: porphyria cutanea tarda and hepatoerythropoietic porphyria (extremely rare).]
angioma serpiginosum	MONDO_0019803	[Angioma serpiginosum (AS) is a benign congenital skin disease characterised by progressive dilation of the subepidermal skin vessels manifesting as purple punctate lesions usually appearing on the lower limbs and buttocks and following the lines of Blaschko.]
skeletal muscle of trunk	UBERON_0001774	[A skeletal muscle organ that is part of the trunk region.]
hyper-IgE recurrent infection syndrome 1	MONDO_0007818	[A condition of decreased or absent presence or activity of signal transducer and activator of transcription 3 protein. Deficiency of this protein is associated with hyper-IgE syndrome.]
solitary median maxillary central incisor syndrome	MONDO_0007819	[A hereditary autosomal dominant condition characterized primarily by single (unpaired) deciduous and permanent maxillary central incisors and short stature. Growth hormone deficiencies may also be present. Mutations in the SHH gene have been identified.]
holoprosencephaly 3	MONDO_0007733	[Any holoprosencephaly in which the cause of the disease is a mutation in the SHH gene.]
corneal epithelium	UBERON_0001772	[The smooth stratified squamous epithelium that covers the outer surface of the cornea.]
iris	UBERON_0001769	[The adjustable membrane, composed of the stroma and pigmented epithelium, located just in front of the crystalline lens within the eye.]
fused mandibular incisors	MONDO_0007820	[Fused manidbular incisors is an extremely rare dental anomaly that is characterized by the union of two, normally separated, incisor tooth germs of the primary dentition. It is frequently associated with hypodontia and an increased risk of pulp exposure.]
Borrelia burgdorferi	NCBITaxon_139
Aureococcus anophagefferens	NCBITaxon_44056