Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| obsolete_biotinidase deficiency | Orphanet_79241 | |
| polyneuropathy-hand defect syndrome | MONDO_0008809 | [Digital extensor muscle aplasia-polyneuropathy is a rare, hereditary motor and sensory neuropathy characterized by flexion deformities of the thumb and fingers, sensory deficit in the hand and polyneuropathic electrophysiologic findings in the limbs. Operation on the hands reveals extensor muscles and their tendons to be absent or hypoplastic. There have been no further descriptions in the literature since 1986.] |
| hereditary papulotranslucent acrokeratoderma | EFO_1000708 | [A keratosis of the hands and feet characterized by persistent, asymptomatic, yellowish to white papules and plaques associated with fine-textured scalp hair and an atopic diathesis.] |
| Distal 22q11.2 microdeletion syndrome | Orphanet_261330 | |
| Partial deletion of the long arm of chromosome 22 | Orphanet_262182 | |
| obsolete_Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency | Orphanet_79240 | [Glycogen storage disease (GSD) due to liver and muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism. It is the mildest form of GSD due to PhK deficiency (see this term).] |
| aplasia cutis congenita-intestinal lymphangiectasia syndrome | MONDO_0008808 | [Aplasia cutis congenita - intestinal lymphangiectasia is an extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterized by aplasia cutis congenita of the vertex and generalized edema (as well as hypoproteinemia and lymphopenia) due to intestinal lymphangiectasia. There have been no further descriptions in the literature since 1985.] |
| mixed dermis disorder | MONDO_0019294 | |
| pemphigoid gestationis | EFO_1000709 | [a dermatosis of pregnancy,being an autoimmuneblistering skin disease that occurs during pregnancy, typically in the second or third trimester, and/or immediately following pregnancy. It was originally called herpes gestationis because of the blistering appearance, although it is not associated with the herpes virus., A rare pregnancy-associated autoimmune skin disease that is characterised by an itchy rash that develops into blisters. It is most common during the second and third trimesters of pregnancy. It was previously known as herpes gestationis although it has no association with the herpes virus whatsoever.] |
| arterial tortuosity syndrome | MONDO_0008818 | [Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries.] |
| inherited cutis laxa | MONDO_0100237 | [An instance of cutis laxa that is inherited.] |
| phosphoenolpyruvic acid measurement | EFO_0010522 | [Quantification of phosphoenolpyruvic acid levels in a sample.] |
| phosphoglyceric acid measurement | EFO_0010523 | [Quantification of phosphoglyceric acid levels in a sample.] |
| Chiari malformation type II | MONDO_0008816 | [Arnold-Chiari malformation type II is a rare, central nervous system malformation characterized by caudal displacement of the cerebellum, pons, medulla and fourth ventricle through the foramen magnum into the spinal canal, and is typically associated with myelomeningocele. Variable other central nervous system abnormalities might be present (partial or complete agenesis of the corpus callosum, a small fourth ventricle, obstructive hydrocephalus, falx and tentorium defects, and polygyria). Symptoms include hypotonia, apnea with cyanosis, dysphagia, opisthotonus, nystagmus, spasticity, ataxia, and occipital headache.] |
| Chiari malformation | MONDO_0000115 | [A rare genetic brain malformation characterized by displacement of the brain stem and cerebellum through the foramen magnum. It may result in hydrocephalus.] |
| spina bifida cystica | MONDO_0017069 | [A congenital abnormality in which the spinal cord and meninges protrude through a defect in the spinal column. The protrusion is above the skin surface.] |
| binocular vision disease | EFO_0009535 | [Any inability to efficiently utilize and/or sustain binocular vision.] |
| vision disorder | MONDO_0021084 | [Any impairment to the vision.] |
| ocular motility disease | EFO_1001990 | |
| peptide measurement | EFO_0010520 | [Quantification of peptide levels in a sample.] |