Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| Rare genetic urogenital disease | Orphanet_156619 | |
| camptodactyly-taurinuria syndrome | MONDO_0015272 | [Camptodactyly-taurinuria syndrome is a congenital malformation syndrome characterized by the association of a permanent camptodactyly of the fingers with the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.] |
| familial pancreatic carcinoma | MONDO_0015278 | [Familial pancreatic carcinoma is defined by the presence of pancreatic cancer (PC) in two or more first-degree relatives.] |
| medullary thyroid gland carcinoma | MONDO_0015277 | [A neuroendocrine carcinoma arising from the C-cells of the thyroid gland. It is closely associated with multiple endocrine neoplasia syndromes. Approximately 10% to 20% of medullary thyroid carcinomas are familial. Patients usually present with a thyroid nodule that is painless and firm. In the majority of cases nodal involvement is present at diagnosis. Surgery is the preferred treatment for both primary lesions and recurrences. This carcinoma is generally not very sensitive to radiation and almost unresponsive to chemotherapy.] |
| butyrylcholinesterase deficiency | MONDO_0015270 | [Butyrylcholinesterase (BChE) deficiency is a metabolic disorder characterised by prolonged apnoea after the use of certain anaesthetic drugs, including the muscle relaxants succinylcholine or mivacurium and other ester local anaesthetics. The duration of the prolonged apnoea varies significantly depending on the extent of the enzyme deficiency.] |
| obsolete_spondyloepimetaphyseal dysplasia, matrilin-3 type | Orphanet_156728 | |
| obsolete_stria vascularis | EFO_0001644 | [A stria vascularis is part of a cochlea and is the upper part of the spiral ligament of thescala media that contains numerous small blood vessels., The upper part of the spiral ligament of the scala media that contains numerous small blood vessels;nA layer of vascular tissue consisting of epithelial cells, mesothelial cells, and probably some neuroectoderm; it covers the outer wall of the cochlear duct and is thought to secrete the endolymph.] |
| anatomical modifier | EFO_0001646 | [An anatomical modifier is a quality which inheres in an organism part.] |
| heart-hand syndrome type 2 | MONDO_0015284 | [Heart-hand syndrome type 2 is an extremely rare heart-hand syndrome described in two families to date, that is characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation).] |
| maternally-inherited cardiomyopathy and hearing loss | MONDO_0015283 | [Maternally inherited cardiomyopathy and hearing loss is a mitochondrial disease described in two unrelated families to date that has a heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external opthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance.] |
| cardiomyopathy-cataract-hip spine disease syndrome | MONDO_0015282 | [Cardiomyopathy - cataract - hip spine disease describes the extremely rare triad of dilated cardiomyopathy, premature cataract, and articular disease of the hips and spine characterized by hip joint degeneration, irregular intervertebral disks, and platyspondyly. The ocular abnormalities are often the first symptoms to arise. There have been no further descriptions in the literature since 1985.] |
| lysophosphatidylethanolamine 18:1 | CHEBI_64575 | [A lysophosphatidylethanolamine in which the acyl group (position not specified) contains 18 carbons and 1 double bond.] |
| atrial standstill | MONDO_0015281 | [Atrial standstill is a rare cardiac rhythm disease with a few familial and sporadic cases described to date that is characterized by a transient or permanent absence of electrical and mechanical atrial activity. Electrocardiographic findings include bradycardia, ectopic supraventricular rhythms, lack of atrial excitability and absent P waves.] |
| cardiofaciocutaneous syndrome | MONDO_0015280 | [Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.] |
| Profound sensorineural hearing impairment | HP_0011476 | [Complete loss of hearing related to a sensorineural defect.] |
| lysophosphatidylethanolamine 18:0 | CHEBI_64576 | [A lysophosphatidylethanolamine in which the acyl group has a fully saturated C18 chain and is attached to the glycero moiety at either position 1 or 2.] |
| Gastrostomy tube feeding in infancy | HP_0011471 | [Feeding problem necessitating gastrostomy tube feeding.] |
| Feeding difficulties in infancy | HP_0008872 | [Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.] |
| Tube feeding | HP_0033454 | [Feeding problem necessitating food and nutrient delivery via a tube.] |
| Burkholderia lata | NCBITaxon_482957 |