Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
congenital cataract-ichthyosis syndrome	MONDO_0008924	[Congenital cataract-ichthyosis syndrome is characterized by congenital cataract associated with ichthyosis. It has been described in less than ten patients from two unrelated families. Transmission is autosomal recessive.]
autosomal ichthyosis syndrome	MONDO_0017270
syndromic cataract	MONDO_0020225	[A cataract (disease) that is part of a larger syndrome.]
bronchitis	EFO_0009661	[An acute or chronic inflammatory process affecting the bronchi. [database_cross_reference: NCIt:C2911], An acute or chronic inflammatory process affecting the bronchi.]
tracheobronchitis	MONDO_0021925	[Inflammation of the tracheobronchial tree.]
creativity measurement	EFO_0010650	[A quantification of an individual's creativity, i.e. capacity to produce new or original ideas, insights or inventions.]
depressive symptom measurement	EFO_0007006	[quantification of the existence and severity of depressive symptoms, usually via a questionnaire such as the Center for Epidemiological Studies Depression Scale (CES-D) ]
mental or behavioural disorder	EFO_0000677	[A disease that has its basis in the disruption of mental process., Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH)., Disorders in which there is a loss of ego boundaries or a gross impairment in reality testing with delusions or prominent hallucinations. (From DSM-IV, 1994)]
autosomal recessive palmoplantar keratoderma and congenital alopecia	MONDO_0008923	[Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum.]
diffuse palmoplantar keratoderma	MONDO_0017666
ectodermal dysplasia syndrome	MONDO_0019287	[The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures.]
intellectual developmental disorder with impaired language and dysmorphic facies	EFO_0010651	[An autosomal dominant disorder characterized by intellectual disability, developmental delay, impaired language development, and dysmorphic features including telecanthus, epicanthus, arched eyebrows and low-set ears. Additional features include feeding difficulties, mild cardiac or genitourinary defects, and distal skeletal anomalies.]
free androgen index	EFO_0007005	[Quantification of abnormal androgen status in humans, calculated as the ratio of the total level of testosterone divided by the SHBG level, multiplied by a constant (usually 100) ]
androgen	CHEBI_50113	[A steroid hormone that stimulates or controls the development and maintenance of masculine characteristics in vertebrates by binding to androgen receptors.]
common wart	EFO_0009662	[A wart caused by human papillomavirus. It can appear anywhere on the skin.]
benign epithelial skin neoplasm	MONDO_0024666	[A form of epithelial skin neoplasm without malignant characteristics.]
skin disorder caused by infection	MONDO_0024294	[Skin diseases caused by bacteria, fungi, parasites, or viruses.]
viral disease	EFO_0000763	[A viral disease is a disease factor that is caused primarily by the infection or otherwise hosting of a virus., Any disease caused by a virus.]
Sengers syndrome	MONDO_0008922	[Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise.]
mitochondrial substrate carrier disorder	MONDO_0016801