Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| Syndrome with hypoparathyroidism | Orphanet_181402 | |
| Fever | HP_0001945 | [Body temperature elevated above the normal range.] |
| Abnormality of temperature regulation | HP_0004370 | [An abnormality of temperature homeostasis.] |
| atypical coarctation of aorta | MONDO_0015446 | [Middle aortic coarctation is a rare vascular anomaly characterized by the segmental narrowing of the abdominal and/or distal descending thoracic aorta with varying involvement of the visceral and renal arteries that commonly presents in children and young adults with early onset and refractory hypertension, abdominal angina, lower-limb claudication and that can lead to life-threatening complications associated with severe hypertension (i.e. myocardial infarction, heart failure, aortic rupture, renal insufficiency and intracranial hemorrhage). It may be due to various congenital or acquired causes, but it is most often secondary to an acquired inflammatory disease (i.e. Takayasu arteritis or giant cell arteritis).] |
| Aortic Coarctation | EFO_1001267 | [A birth defect characterized by the narrowing of the AORTA that can be of varying degree and at any point from the transverse arch to the iliac bifurcation. Aortic coarctation causes arterial HYPERTENSION before the point of narrowing and arterial HYPOTENSION beyond the narrowed portion., Congenital narrowing of a segment of the aorta. Signs and symptoms include hypertension, muscle weakness, shortness of breath, headaches and leg cramps.] |
| Streptomyces griseus subsp. griseus NBRC 13350 | NCBITaxon_455632 | |
| chromosome 8-derived supernumerary ring/marker | MONDO_0015443 | [Chromosome 8-derived supernumerary ring/marker is a rare chromosomal anomaly comprising variable parts of chromosome 8. The phenotype of mosaic or non-mosaic supernumerary r(8)/mar(8) ranges from almost normal to variable degrees of minor abnormalities, and growth and mental retardation overlapping with the well-known mosaic trisomy 8 syndrome.] |
| ring chromosome 7 | MONDO_0015441 | [Ring chromosome 7 syndrome is a rare chromosomal anomaly syndrome, with highly variable phenotype, principally characterized by growth failure, short stature, intellectual disability, dermatological abnormalities (nevus flammeus, dark pigmented nevi, café-au-lait spots), microcephaly and facial dysmorphism (incl. facial asymmetry, small ears, abnormal palpebral fissures, ptosis, epicanthic folds, hyper/hypotelorism). Additional reported features include convulsions, cleft lip and palate, clinodactyly, kyphoscoliosis and genital anomalies (i.e. cryptorchidism, hypospadias, micropenis).] |
| ring chromosome 6 | MONDO_0015440 | [Ring chromosome 6 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by prenatal/postnatal growth failure, intellectual disability, developmental delay, craniofacial dysmorphism (incl. microcephaly, microphthalmia, epicanthus, low-set and malformed ears, broad and flat nasal bridge, full lips, micrognathia), central nervous system anomalies (e.g. hydrocephalus, cortical atrophy, ventriculomegaly), short neck, and delayed bone age. Cardiac defects, limb anomalies, hip joint malformations, and seizures have also been reported.] |
| obsolete_infantile cerebellar-retinal degeneration | Orphanet_313850 | |
| obsolete_hyperostosis cranialis interna | Orphanet_443098 | [An autosomal dominant bone disorder characterized by endosteal hyperostosis and osteosclerosis of the calvaria and the skull base. The progressive bone overgrowth causes entrapment and dysfunction of cranial nerves I, II, V, VII, and VIII, its first symptoms often presenting during the second decade of life.] |
| biphasic synovial sarcoma | MONDO_0003468 | [A synovial sarcoma characterized by the presence of both an epithelial and a spindle cell component.] |
| Polydipsia | HP_0001959 | [Excessive thirst manifested by excessive fluid intake.] |
| Zoarces viviparus | NCBITaxon_48416 | |
| obsolete_FGFR2-related bent bone dysplasia | Orphanet_313855 | |
| Truncal obesity | HP_0001956 | [Obesity located preferentially in the trunk of the body as opposed to the extremities.] |
| obsolete_adrenogenital syndrome | Orphanet_181412 | |
| intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome | MONDO_0015458 | [Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome is characterised by a hypoplastic corpus callosum, microcephaly, severe intellectual deficit, preauricular skin tags, camptodactyly, growth retardation, and recurrent bronchopneumonia. It has been described in four patients in two families. Transmission is autosomal recessive.] |
| Palpitations | HP_0001962 | [A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia.] |
| obsolete_combined oxidative phosphorylation defect type 4 | Orphanet_254925 |