Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| hyperparathyroidism | EFO_0008506 | [Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It may be primary or secondary., Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It may be primary or secondary; primary hyperparathyroidism is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones. Secondary hyperparathyroidism is caused by the chronic stimulation of the parathyroid glands in patients with chronic renal failure, rickets, and malabsorption syndromes.] |
| woolly hair, autosomal recessive 2, with or without hypotrichosis | EFO_0009163 | [Shimomura et al. (2009) studied 11 consanguineous Pakistani families with woolly hair and/or hypotrichosis in whom homozygosity for mutations in the LIPH gene were identified (see MOLECULAR GENETICS). The 11 families showed a wide variation in phenotype, ranging from woolly hair to sparse hair between families and even within a single family, although all affected individuals had slow hair growth that stopped at a few inches. The woolly hair of some individuals was light-colored compared to the dark brown/black hair typical in this population. Facial and body hair was normal in patients with woolly hair, whereas eyebrows, eyelashes, and body hair were sparse in the patients with hypotrichosis. Affected individuals from all 11 families had normal teeth, nails, and sweating, did not display palmoplantar hyperkeratosis, and had no family history of heart disease, cancers, or neurologic abnormalities.] |
| Woolly hair | Orphanet_170 | |
| visual pathway disorder | MONDO_0001834 | [A disorder of the neural pathway from the optic nerve to the visual cortex.] |
| intellectual disability, autosomal dominant 54 | EFO_0009164 | [Delayed psychomotor development and mild to severe intellectual disability. Common features include hypotonia, delayed walking, delayed speech, and behavioral abnormalities, including autistic features.] |
| Rare intellectual disability without developmental anomaly | Orphanet_101685 | |
| intellectual disability, autosomal dominant 53 | EFO_0009165 | [Delayed psychomotor development and mild to severe intellectual disability. Common features include hypotonia, delayed walking, delayed speech, and behavioral abnormalities, including autistic features.] |
| autosomal dominant non-syndromic intellectual disability | MONDO_0015802 | [Autosomal dominant form of non-syndromic intellectual disability.] |
| chronic acquired demyelinating polyneuropathy | MONDO_0016169 | [Chronic form of acquired peripheral neuropathy.] |
| bilateral frontal polymicrogyria | MONDO_0016162 | [Bilateral frontal polymicrogyria is one of the rarest subtypes of polymicrogyria. It is a symmetric and bilateral form (in both brain hemispheres) that only involves the frontal lobes without including the area located behind the Sylvius fissure or the area located behind the Rolando sulcus. Some researchers classify the condition into two different forms: bilateral frontal polymicrogyriaand the bilateral frontoparietal. Signs and symptoms included delayed motor and language milestones; spastic (stiffness) hemiparesis (weakness in one side of the body) or quadriparesis (weakness in all four limbs of the body); and mild to moderate intellectual disability. Seizures mayalsobe present. The frontoparietal form is caused by changes (mutations) in the GPR56 gene but the cause for the frontal form of polymicrogyira is still not known. Treatment is based on the signs and symptoms present in each person.] |
| bilateral polymicrogyria | MONDO_0017091 | [Bilateral polymicrogyria is a rare cerebral malformation due to abnormal neuronal migration defined as a cerebral cortex with many excessively small convolutions. It presents with developmental delay, intellectual disability, seizures and various neurological impairments and may be isolated or comprise a clinical feature of many genetic syndromes. It may also be associated with perinatal cytomegalovirus infection.] |
| celecoxib | CHEBI_41423 | [A pyrazole that has formula C17H14F3N3O2S.] |
| autosomal dominant cerebellar ataxia type II | MONDO_0016163 | |
| stromme syndrome | EFO_0009160 | [A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance and ciliopathy with some type of intestinal atresia, variable ocular abnormalities, microcephaly, and has_material_basis_in compound heterozygous mutation in the CENPF gene on chromosome 1q41., An autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016).] |
| Male infertility due to sperm motility disorder | Orphanet_399813 | |
| cilium | GO_0005929 | [A specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface and of some cytoplasmic parts. Each cilium is largely bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored to a basal body. Note that we deem cilium and microtubule-based flagellum to be equivalent. In most eukaryotic species, intracellular sub-components of the cilium, such as the ciliary base and rootlet, are located near the plasma membrane. In Diplomonads such as Giardia, instead, the same ciliary parts are located further intracellularly., A specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface and of some cytoplasmic parts. Each cilium is largely bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored to a basal body.] |
| debrisoquine, poor metabolism of | EFO_0009161 | [Poor metabolism of the guanidine derivative, Debrisoquine, which is frequently used to phenotype the drug metabolizing enzyme, CYP2D6.] |
| sucrose liking measurement | EFO_0010157 | [Quantification of an individual's appreciation of sucrose.] |
| sweet liking measurement | EFO_0010156 | [Quantification of an individual's appreciation of sweet.] |
| X-linked intellectual disability-epilepsy syndrome | MONDO_0016160 |