Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| matrix metalloproteinase measurement | EFO_0004744 | [Is a quantification of matrix metalloproteinases, Collectively, they are capable of degrading all kinds of extracellular matrix proteins, but also can process a number of bioactive molecules. They are known to be involved in the cleavage of cell surface receptors, the release of apoptotic ligands (such as the FAS ligand), and chemokine/cytokine in/activation.[3] MMPs are also thought to play a major role on cell behaviors such as cell proliferation, migration (adhesion/dispersion), differentiation, angiogenesis, apoptosis, and host defense.] |
| tumor necrosis factor ligand superfamily member 8 measurement | EFO_0010592 | [quantification of the amount of tumor necrosis factor ligand superfamily member 8 in a sample] |
| matrix metalloproteinase 12 measurement | EFO_0010590 | [quantification of the amount of matrix metalloproteinase 12 in a sample] |
| adenosine 5'-monophosphate | CHEBI_16027 | [A purine ribonucleoside 5'-monophosphate having adenine as the nucleobase.] |
| central areolar choroidal dystrophy | MONDO_0008982 | [A hereditary macular disorder, usually presenting between the ages of 30-60, characterized by a large area of atrophy in the centre of the macula and the loss or absence of photoreceptors, retinal pigment epithelium and choriocapillaris in this area, resulting in a progressive decrease in visual acuity.] |
| optic choroid disorder | MONDO_0001898 | [A disease involving the optic choroid.] |
| Waddling gait | HP_0002515 | [Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck.] |
| ataxia-hypogonadism-choroidal dystrophy syndrome | MONDO_0008980 | [Ataxia-hypogonadism-choroidal dystrophy syndrome is a very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia (that generally manifests at adolescence or early adulthood), chorioretinal dystrophy, which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome.] |
| familial episodic pain syndrome | MONDO_0018319 | |
| ectocervix | UBERON_0012249 | [The part of the cervix uteri that protrudes into the vagina and is lined with stratified squamous epithelium.] |
| uterine cervix | UBERON_0000002 | [Lower, narrow portion of the uterus where it joins with the top end of the vagina.] |
| fatal post-viral neurodegenerative disorder | MONDO_0018316 | |
| X-linked osteoporosis with fractures | MONDO_0018315 | |
| osteoporosis | EFO_0003882 | [A condition of reduced bone mass, with decreased cortical thickness and a decrease in the number and size of the trabeculae of cancellous bone (but normal chemical composition), resulting in increased fracture incidence. Osteoporosis is classified as primary (Type 1, postmenopausal osteoporosis; Type 2, age-associated osteoporosis; and idiopathic, which can affect juveniles, premenopausal women, and middle-aged men) and secondary osteoporosis (which results from an identifiable cause of bone mass loss)., Reduction of bone mass without alteration in the composition of bone, leading to fractures. Primary osteoporosis can be of two major types: postmenopausal osteoporosis (OSTEOPOROSIS, POSTMENOPAUSAL) and age-related or senile osteoporosis.] |
| disorder of asparagine metabolism | MONDO_0018318 | |
| inborn disorder of amino acid and other organic acid metabolism | MONDO_0019189 | |
| growth retardation-mild developmental delay-chronic hepatitis syndrome | MONDO_0018317 | |
| genetic parenchymatous liver disease | MONDO_0015508 | |
| verbal memory measurement | EFO_0009591 | [Quantification of an individual's ability to store and recall linguistic information.] |
| cognitive function measurement | EFO_0008354 | [quantification of some aspect of cognitive function] |