Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
congenital vertebral-cardiac-renal anomalies syndrome	MONDO_0020831
mosaic trisomy 10	MONDO_0019868	[Mosaic trisomy 10 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by growth delay, craniofacial dysmorphism (incl. prominent forehead, hypertelorism, upslanting palpebral fissures, blepharophimosis, low-set malformed large ears, high arched palate, cleft lip/palate, retrognathia) and cardiac, renal and skeletal (e.g. radial ray defects, scoliosis) malformations, with death usually ocurring neonatally or in early infancy. Other reported features include central nervous system and ear anomalies, as well as facial clefts and anal atresia.]
mosaic trisomy 4	MONDO_0019865	[Mosaic Trisomy 4 is a rare autosomal anomaly, due to the presence of an extra copy of chromosome 4 in a fraction of all cells, with a variable phenotype characterized by intrauterine growth retardation, low birth weight/length/OFC, mild intellectual deficit, congenital heart defects, hypertrophic cardiomyopathy, dysmorphic features (asymmetry of the face, eyebrow anomalies, low-set, posteriorally rotated, dysplastic ears, micro-/retrognathia), characteristic thumb abnormalities (aplasia, hypoplasia) and skin abnormalities (hypo/hyperpigmentation). Delayed puberty may be associated.]
Hypopigmentation of the skin	HP_0001010	[A reduction of skin color related to a decrease in melanin production and deposition.]
tetrasomy 21	MONDO_0019864	[Tetrasomy 21 is an extremely rare autosomal anomaly resulting from the presence of 4 copies of chromosome 21, characterized by features of trisomy 21 including developmental delay/intellectual disability, muscular hypotonia, short neck with redundant skin, brachycephaly, microcephaly, flat face, epicanthus, upslanted palpebral fissures, small ears, protruding tongue, single transverse palmar crease, brachydactyly, hypoplastic iliac wings, together with additional features such as prematurity, intrauterine growth retardation, high and broad forehead, hypertelorism. Haematological malignancies are also associated and may occur earlier than in trisomy 21.]
tetrasomy	MONDO_0030502	[A chromosomal disorder consisting of the presence of two chromosomes of the same type in addition to the normal diploid number.]
thyroid hypoplasia	MONDO_0019861	[Thyroid hypoplasia is a form of thyroid dysgenesis characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth.]
thyroid hemiagenesis	MONDO_0019860	[Thyroid hemiagenesis is a form of thyroid dysgenesis characterized by an absence of half of the thyroid gland that is usually asymptomatic but may result in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth.]
resting metabolic rate measurement	EFO_0008004	[quantification of an individual's resting metabolic rate, the minimum amount of energy required to sustain life during a time period of steady resting conditions. RMR differs from BMR because BMR measurements must meet total physiological equilibrium whereas RMR conditions of measurement can be altered and defined by the contextual limitations.]
energy expenditure measurement	EFO_0008005	[quantification of an individual's energy expenditure, generally considered to be the sum of internal heat produced and external work through physical activity]
skin aging measurement	EFO_0008006	[quantification of some aspect of skin aging such as wrinkling or photoaging. Skin aging can be assessed using teh 6-point Beagley and Gibson (BG6) microtopography scoring system of skin patterning regularity and complexity]
age at assessment	EFO_0008007	[The age of an individual at the time an assessment takes place]
peak insulin response measurement	EFO_0008000	[quantification of the time point at which insulin secretion is highest]
physical activity measurement	EFO_0008002	[quantification of some aspect of physical activity such as frequency or intensity]
hereditary leiomyomatosis and renal cell cancer	MONDO_0007888	[Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer.]
leiomyoma cutis	MONDO_0003291	[A benign smooth muscle neoplasm arising from the arrector pili muscle, tunica media of blood vessels, and dartos muscle of the genitalia. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.]
Legg-Calve-Perthes disease	MONDO_0007885	[A hip region disease that is characterized by uni- or bilateral avascular necrosis (AVN) of the femoral head in children. In a small percentage of cases, mutations in the COL2A1 gene were found to be responsible.]
neurodevelopmental disorder with cerebellar atrophy and with or without seizures	MONDO_0020841
S-Adenosylhomocysteine	NCIT_C103149
periodic fever, immunodeficiency, and thrombocytopenia syndrome	MONDO_0007883