Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| embryonal tumor of neuroepithelial tissue | MONDO_0016708 | |
| chorea-acanthocytosis | MONDO_0008695 | [Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances.] |
| neuroacanthocytosis | MONDO_0016987 | [Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia.] |
| Pharyngeal Adenoid Cystic Carcinoma | EFO_1000472 | [An adenoid cystic carcinoma that arises from the pharynx.] |
| carcinoma of pharynx | MONDO_0021345 | [A carcinoma that involves the pharynx.] |
| pharynx cancer | EFO_0005577 | [A primary or metastatic malignant neoplasm that affects the pharynx.] |
| pseudoprogeria syndrome | MONDO_0008694 | [Pseudoprogeria is characterised by intellectual deficit associated with progressive spastic quadriplegia, microcephaly, glaucoma, absence of the eyebrows and eyelashes, and a malformation of the nose. It has been described in two brothers.] |
| Phosphaturic Mesenchymal Tumor | EFO_1000473 | [An extremely rare, benign or malignant mesenchymal tumor arising from the soft tissues or bones. It is a distinctive tumor, which usually displays the following morphologic characteristics: low cellularity, myxoid changes, presence of spindled cells and osteoclasts, hemangiopericytoma-like vessels, hemorrhage, and osteoid-like matrix. It is associated with the presence of a paraneoplastic syndrome called osteogenic osteomalacia. This syndrome usually precedes the appearance of the tumor, and it is characterized by phosphaturia, hypophosphatemia, normal serum calcium levels, and decreased levels of 1,25-dihydroxyvitamin D3. Patients present with bone and muscle pain, severe muscle weakness, fractures, gait disturbances, skeletal deformity, height loss, and slow growth. The metabolic disturbances improve or completely disappear after the complete resection of the tumor.] |
| ablepharon macrostomia syndrome | MONDO_0008693 | [Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome.] |
| Hypoplastic labia majora | HP_0000059 | [Undergrowth of the outer labia.] |
| Micropenis | HP_0000054 | [Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.] |
| congenital factor XIII deficiency | MONDO_0018029 | [Congenital factor XIII deficiency is an inherited bleeding disorder due to reduced levels and activity of factor XIII (FXIII) and characterized by hemorrhagic diathesis frequently associated with spontaneous abortions and defective wound healing. Factor XIII deficiency is one of the most rare coagulation factor deficiencies.] |
| factor XIII deficiency | MONDO_0002241 | [An acquired or inherited coagulation disorder due to reduced levels and activity of factor XIII.] |
| tetraploidy syndrome | MONDO_0018026 | [The presence of four sets of chromosomes. It is associated with abnormalities, multiple; and miscarrages.] |
| tetrasomy 5p | MONDO_0018028 | [Tetrasomy 5p is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by developmental delay, growth retardation/short stature, hypotonia, seizures, venriculomegaly, hand and foot anomalies (e.g. clinodactyly, overlapping toes) and mosaic pigmentary skin changes. Patients may also present minor dysmorphic craniofacial features (incl. macrocephaly, upslanting palpebral fissures, hypertelorism, abnormal auricles, anteverted nasal tip, midface hypoplasia).] |
| partial trisomy/tetrasomy of the short arm of chromosome 5 | MONDO_0016942 | |
| duplication/inversion 15q11 | MONDO_0018027 | [Isodicentric chromosome 15 syndrome is a chromosome abnormality that affects many different parts of the body. As the name suggests, people with this condition have an extra chromosome (called an isodicentric chromosome 15) which is made of two pieces of chromosome 15 that are stuck together end-to-end. Although the severity of the condition and the associated features vary from person to person, common signs and symptoms include poor muscle tone in newborns; developmental delay; mild to severe intellectual disability; delayed or absent speech; behavioral abnormalities; and seizures. Most cases of isodicentric chromosome 15 syndrome occur sporadically in people with no family history of the condition. Treatment is based on the signs and symptoms present in each person.] |
| hemoglobin Lepore-beta-thalassemia syndrome | MONDO_0018022 | |
| beta-thalassemia and related diseases | MONDO_0017145 | |
| hypotrichosis-deafness syndrome | MONDO_0018021 |