Terminology Service < Semantic Lookup Platform

All terms in MESH

Label	Id	Description
Epidermolysis Bullosa Dystrophica	D016108	[Form of epidermolysis bullosa characterized by atrophy of blistered areas, severe scarring, and nail changes. It is most often present at birth or in early infancy and occurs in both autosomal dominant and recessive forms. All forms of dystrophic epidermolysis bullosa result from mutations in COLLAGEN TYPE VII, a major component fibrils of BASEMENT MEMBRANE and EPIDERMIS.]
Collagen Diseases	D003095	[Historically, a heterogeneous group of acute and chronic diseases, including rheumatoid arthritis, systemic lupus erythematosus, progressive systemic sclerosis, dermatomyositis, etc. This classification was based on the notion that "collagen" was equivalent to "connective tissue", but with the present recognition of the different types of collagen and the aggregates derived from them as distinct entities, the term "collagen diseases" now pertains exclusively to those inherited conditions in which the primary defect is at the gene level and affects collagen biosynthesis, post-translational modification, or extracellular processing directly. (From Cecil Textbook of Medicine, 19th ed, p1494)]
Epidermolysis Bullosa, Junctional	D016109	[Form of epidermolysis bullosa having onset at birth or during the neonatal period and transmitted through autosomal recessive inheritance. It is characterized by generalized blister formation, extensive denudation, and separation and cleavage of the basal cell plasma membranes from the basement membrane.]
alpha(2)-microglobulin	C025500
N-salicylidene-d(+)-alpha-methylbenzylamine	C025501
4(2'-aminoethyl)amino-1,8-dimethylimidazo(1,2-a)quinoxaline	C471109
MAPK8IP3 protein, human	C485750
LSM4 protein, human	C485751
Electrophysiological Phenomena	D055724	[The electrical properties, characteristics of living organisms, and the processes of organisms or their parts that are involved in generating and responding to electricity.]
LSm4 protein, Xenopus	C485752
Sv2c protein, mouse	C485753
Abt1 protein, mouse	C485754
Map4k3 protein, rat	C485755
Hs6st1 protein, mouse	C485756
HS6ST2 protein, human	C485757
Hs6st2 protein, mouse	C485758
Hs6st3 protein, mouse	C485759
Epidermolysis Bullosa Simplex	D016110	[A form of epidermolysis bullosa characterized by serous bullae that heal without scarring. Mutations in the genes that encode KERATIN-5 and KERATIN-14 have been associated with several subtypes of epidermolysis bullosa simplex.]
Sjogren-Larsson Syndrome	D016111	[An autosomal recessive neurocutaneous disorder characterized by severe ichthyosis MENTAL RETARDATION; SPASTIC PARAPLEGIA; and congenital ICHTHYOSIS. It is caused by mutation of gene encoding microsomal fatty ALDEHYDE DEHYDROGENASE leading to defect in fatty alcohol metabolism.]
Ichthyosis	D007057	[Any of several generalized skin disorders characterized by dryness, roughness, and scaliness, due to hypertrophy of the stratum corneum epidermis. Most are genetic, but some are acquired, developing in association with other systemic disease or genetic syndrome.]