Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| familial sick sinus syndrome | MONDO_0012061 | [Sick sinus syndrome is a rare cardiac rhythm disease, usually of the elderly, characterized by electrocardiographic findings of sinus bradycardia, atrial fibrillation, atrial tachycardia sinus arrest, or sino-atrial block, and that manifest with symptoms like syncope, dizziness, palpitations, fatigue, or even heart failure. It results from malfunction of the cardiac conduction system, probably secondary to degenerative fibrosis of nodal tissue in the elderly or secondary to cardiac disorders in younger patients.] |
| sick sinus syndrome | MONDO_0001823 | [A constellation of signs and symptoms which may include syncope, fatigue, dizziness, and alternating periods of bradycardia and atrial tachycardia, which is caused by sinoatrial node dysfunction.] |
| beginning of whole plant fruit ripening stage | PO_0007036 | |
| ulnar/fibula ray defect-brachydactyly syndrome | MONDO_0012063 | [Ulnar/fibula ray defect - brachydactyly syndrome is a very rare malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism.] |
| choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome | MONDO_0012064 | [Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome.] |
| whole plant fruit formation stage 30 to 50% | PO_0007029 | [A whole plant fruit formation stage (PO:0007042) that spans the interval when the average size of fruits (PO:0009001) on a whole plant (PO:0000003) has reached 30% to 50% of its final size.] |
| polymicrogyria | MONDO_0000087 | [A developmental brain abnormality characterized by an excessive amount of small convolutions on the surface of the brain and cognitive dysfunction.] |
| O-linoleyl-L-carnitine | CHEBI_84098 | [An O-octadecadienoyl-L-carnitine where the acyl group specified is linoleyl.] |
| inflorescence emergence stage | PO_0007041 | [An inflorescence detectable phase during which an inflorescence emerges from sheathing leaves or bracts. Includes emergence of a Zea mays inflorescence from a flag leaf sheath, following booting. In US cornbelt maize (including B73) the tassel fully emerges about 2-3 days prior to silk emergence from husk leaves. At this time the ear and husk may still be enclosed within its leaf sheath depending on the variety and environmental conditions.] |
| plant structure development stage | PO_0009012 | [A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes.] |
| progressive external ophthalmoplegia | EFO_0002509 | [Progressive external ophthalmoplegia is a condition characterized by weakness of the eye muscles. The condition typically appears in adults between ages 18 and 40. The most common signs and symptoms of progressive external ophthalmoplegia are drooping eyelids (ptosis), which can affect one or both eyelids, and weakness or paralysis of the muscles that move the eye (ophthalmoplegia). Affected individuals may also have general weakness of the skeletal muscles (myopathy), particularly in the neck, arms, or legs. The weakness may be especially noticeable during exercise (exercise intolerance). Muscle weakness may also cause difficulty swallowing (dysphagia)., A mitochondrial myopathy characterized by slowly progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. Ragged-red fibers and atrophy are found on muscle biopsy. Familial and sporadic forms may occur. Disease onset is usually in the first or second decade of life, and the illness slowly progresses until usually all ocular motility is lost. (From Adams et al., Principles of Neurology, 6th ed, p1422)] |
| cotyledon emergence stage | PO_0007049 | [A seedling development stage (PO:0007131) during which the cotyledon (PO:0020030) emerges from the seed coat (PO:0009088). This term is used only for seed plants. The actual point of emergence from the seed coat (PO:0009088) may not be observed if the seed is underneath a growth medium, especially in plants with hypogeal germination. In a fruit (PO:0009001) with a persistent pericarp (PO:0009084), emergence from the seed coat may not be observed.] |
| familial partial lipodystrophy, Kobberling type | MONDO_0012072 | [Familial partial lipodystrophy, Kobberling type, is a very rare form of familial partial lipodystrophy (FPLD) of unknown etiology characterized by lipoatrophy that is confined to the limbs and a normal or increased fat distribution of the face, neck, and trunk. Arterial hypertension and diabetes have also been associated. Inheritance is thought to be autosomal dominant.] |
| familial partial lipodystrophy | MONDO_0020088 | [Familial partial lipodystrophy (FPLD) is a group of rare genetic lipodystrophic syndromes characterized, in most cases, by fat loss from the limbs and buttocks, from childhood or early adulthood, and often associated with acanthosis nigricans, insulin resistance, diabetes, hypertriglyceridemia and liver steatosis.] |
| ribose-5-P isomerase deficiency | MONDO_0012073 | [Ribose-5-P isomerase deficiency is an extremely rare, hereditary, disorder of pentose phosphate metabolism characterized by progressive leukoencephalopathy and a highly increased ribitol and D-arabitol levels in the brain and body fluids. Clinical presentation includes psychomotor delay, epilepsy, and childhood-onset slow neurological regression with ataxia, spasticity, optic atrophy and sensorimotor neuropathy.] |
| inborn disorder of pentose phosphate metabolism | MONDO_0019231 | |
| 3 inflorescence detectable stage | PO_0007047 | [A reproductive growth stage during which an inflorescence is detectable. This includes the stage when an inflorescence starts to develop (and is detectable only by assay or with a microscope), to the stage where it is visible to the naked eye. This includes the booting stage in the grasses (Poaceae). There is no one-to-one correspondence between some of the phases of inflorescence formation in members of Poaceae (e.g., booting) with that of other families.] |
| coleoptile emergence stage | PO_0007045 | [A sporophyte vegetative stage during which the coleoptile emerges from the seed coat.] |
| hypocotyl emergence stage | PO_0007043 | [Boyes Arabidopsis Growth Stage 0.7, This term is used only for seed plants. The actual point of emergence from the seed coat (PO:0009088) may not be observed if the seed (PO:0009010) is underneath a growth medium. In a fruit (PO:0009001) with a persistent pericarp (PO:0009084), emergence from the seed coat may not be observed. A seedling development stage (PO:0007131) during which the hypocotyl (PO:0020100) emerges from the seed coat (PO:0009088).] |
| mandibuloacral dysplasia with type B lipodystrophy | MONDO_0012074 |