Terminology Service < Semantic Lookup Platform

All terms in MESH

Label	Id	Description
Lipidoses	D008064	[Conditions characterized by abnormal lipid deposition due to disturbance in lipid metabolism, such as hereditary diseases involving lysosomal enzymes required for lipid breakdown. They are classified either by the enzyme defect or by the type of lipid involved.]
Ichthyosis Vulgaris	D016112	[Most common form of ICHTHYOSIS characterized by prominent scaling especially on the exterior surfaces of the extremities. It is inherited as an autosomal dominant trait.]
Ichthyosiform Erythroderma, Congenital	D016113	[Designation for several severe forms of ichthyosis, present at birth, that are characterized by hyperkeratotic scaling. Infants may be born encased in a collodion membrane which begins shedding within 24 hours. This is followed in about two weeks by persistent generalized scaling. The forms include bullous (HYPERKERATOSIS, EPIDERMOLYTIC), non-bullous (ICHTHYOSIS, LAMELLAR), wet type, and dry type.]
Ichthyosis, X-Linked	D016114	[Chronic form of ichthyosis that is inherited as a sex-linked recessive trait carried on the X-chromosome and transmitted to the male offspring. It is characterized by severe scaling, especially on the extremities, and is associated with steroid sulfatase deficiency.]
Steroid Metabolism, Inborn Errors	D043202	[Errors in metabolic processing of STEROIDS resulting from inborn genetic mutations that are inherited or acquired in utero.]
Albinism, Oculocutaneous	D016115	[Heterogeneous group of autosomal recessive disorders comprising at least four recognized types, all having in common varying degrees of hypopigmentation of the skin, hair, and eyes. The two most common are the tyrosinase-positive and tyrosinase-negative types.]
Albinism	D000417	[General term for a number of inherited defects of amino acid metabolism in which there is a deficiency or absence of pigment in the eyes, skin, or hair.]
Piebaldism	D016116	[Autosomal dominant, congenital disorder characterized by localized hypomelanosis of the skin and hair. The most familiar feature is a white forelock presenting in 80 to 90 percent of the patients. The underlying defect is possibly related to the differentiation and migration of melanoblasts, as well as to defective development of the neural crest (neurocristopathy). Piebaldism may be closely related to WAARDENBURG SYNDROME.]
Albinism, Ocular	D016117	[Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted. The classic type is X-linked (Nettleship-Falls), but an autosomal recessive form also exists. Ocular abnormalities may include reduced pigmentation of the iris, nystagmus, photophobia, strabismus, and decreased visual acuity.]
Anterior Cruciate Ligament	D016118	[A strong ligament of the knee that originates from the posteromedial portion of the lateral condyle of the femur, passes anteriorly and inferiorly between the condyles, and attaches to the depression in front of the intercondylar eminence of the tibia.]
Ligaments, Articular	D008023	[Fibrous cords of CONNECTIVE TISSUE that attach bones to each other and hold together the many types of joints in the body. Articular ligaments are strong, elastic, and allow movement in only specific directions, depending on the individual joint.]
Cabo Verde	D055726	[A country in western Africa composed of a group of islands in the North Atlantic Ocean, west of Senegal. The capital is Praia.]
Atlantic Islands	D001266	[Widely scattered islands in the Atlantic Ocean as far north as the AZORES and as far south as the South Sandwich Islands, with the greatest concentration found in the CARIBBEAN REGION. They include Annobon Island, Ascension, Canary Islands, Falkland Islands, Fernando Po (also called Isla de Bioko and Bioko), Gough Island, Madeira, Sao Tome and Principe, Saint Helena, and Tristan da Cunha.]
Posterior Cruciate Ligament	D016119	[A strong ligament of the knee that originates from the anterolateral surface of the medial condyle of the femur, passes posteriorly and inferiorly between the condyles, and attaches to the posterior intercondylar area of the tibia.]
Primary Myelofibrosis	D055728	[A de novo myeloproliferation arising from an abnormal stem cell. It is characterized by the replacement of bone marrow by fibrous tissue, a process that is mediated by CYTOKINES arising from the abnormal clone.]
Myeloproliferative Disorders	D009196	[Conditions which cause proliferation of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential. They all involve dysregulation of multipotent MYELOID PROGENITOR CELLS, most often caused by a mutation in the JAK2 PROTEIN TYROSINE KINASE.]
thellungianin G	C471105
1,7-bis(4-hydroxy-3-methoxyphenyl)-1,4,6-heptatrien-3-one	C471106
rpn501 protein, S pombe	C471107
C3 synthetic NCAM-ligand	C471108