Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| melanoma, cutaneous malignant, susceptibility to, 3 | MONDO_0012183 | |
| familial cutaneous melanoma | MONDO_0024462 | [An instance of cutaneous melanoma (disease) that is caused by an inherited modification of the individual's genome.] |
| root stele | PO_0020124 | [A stele that is part of a root] |
| stele | PO_0025197 | [A cardinal organ part (PO:0025001) that is the central column of a plant axis that consists of the primary vascular tissue and associated ground tissue.] |
| hereditary spastic paraplegia 27 | MONDO_0012181 | [A hereditary spastic paraplegia that has material basis in variation in the chromosome region 10q22.1-q24.1.] |
| Fanconi anemia complementation group I | MONDO_0012186 | [Fanconi anemia caused by mutations in the FANCI gene, encoding Fanconi anemia group I protein.] |
| lateral root | PO_0020121 | [A root (PO:0009005) that develops from a lateral root primordium (PO:0000016) that is part of another root on the same plant.] |
| Fanconi anemia complementation group J | MONDO_0012187 | [Fanconi anemia caused by mutations in the BRIP1 gene, encoding Fanconi anemia group J protein.] |
| Pierson syndrome | MONDO_0012184 | [Pierson syndrome is characterised by the association of congenital nephrotic syndrome and ocular anomalies with microcoria.] |
| LAMB2-related infantile-onset nephrotic syndrome | MONDO_0013621 | [LAMB2-related infantile-onset nephrotic syndrome is a rare primary glomerular disease due to homozygous mutations in LAMB2 gene, characterized by prenatal or early-onset progressive steroid-resistant nephrotic syndrome leading to renal failure, and variable ocular defects including myopia, fundus abnormalities, strabismus or nystagmus, without severe visual impairment or blindness. Patients present in early infancy with massive proteinuria, edema, hypertension, and hyperlipidemia. Psychomotor development is normal.] |
| spondylometaphyseal dysplasia, A4 type | MONDO_0012185 | |
| urinary tract smooth muscle contraction | GO_0014848 | [A process in which force is generated within smooth muscle tissue, resulting in a change in muscle geometry. This process occurs in the urinary tract. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. The urinary tract consists of organs of the body that produce and discharge urine. These include the kidneys, ureters, bladder, and urethra.] |
| autosomal dominant limb-girdle muscular dystrophy type 1G | MONDO_0012193 | [Autosomal dominant limb-girdle muscular dystrophy (LGMD1G) is a mild subtype of autosomal dominant limb-girdle muscular dystrophy characterized by a typically adult onset of mild, progressive, proximal weakness of pelvic and shoulder girdle muscles and progressive, permanent finger and toes flexion limitation without flexion contractures. Normal to highly elevated creatine kinase serum levels are observed.] |
| hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 | MONDO_0012191 | [Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 is a rare, inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encephalopathy, seizures, failure to thrive, severe global developmental delay, poor eye contact, severe muscular hypotonia or axial hypotonia with limb hypertonia, hepatomegaly and/or liver dysfunction and/or liver failure, leading to fatal outcome in severe cases. Neuroimaging abnormalities may include corpus callosum thinning, leukodystrophy, delayed myelination and basal ganglia involvement.] |
| permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome | MONDO_0012192 | [Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome is characterized by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis.] |
| aplastic anemia | MONDO_0015909 | [Anemia resulting from bone marrow failure (aplastic or hypoplastic bone marrow). The production of erythroblasts and red cells is markedly decreased, and it may be associated with decreased production of granulocytes (granulocytopenia) and platelets (thrombocytopenia) as well. Aplastic anemia may be idiopathic or secondary due to bone marrow damage by toxins, radiation, or immunologic factors.] |
| PCWH syndrome | MONDO_0012198 | [Waardenburg-Shah syndrome, neurologic variant, also referred to as Peripheral demyelinating neuropathy, Central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease (PCWH), is characterized by the association of the features of WSS (sensorineural hearing loss, pigmentary abnormalities and Hirschsprung disease) with neurological features, namely, neonatal hypotonia, intellectual deficit (of variable severity), nystagmus, progressive spasticity, ataxia and epilepsy.] |
| arthrogryposis-severe scoliosis syndrome | MONDO_0012195 | [Distal arthrogryposis type 4 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and a mild to severe scoliosis. Intelligence is normal.] |
| RBA-2 cell | BTO_0002599 | ["Rat brain-derived type-2 astrocyte cell line." [PMID:14575868]] |
| nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome | MONDO_0012190 |