Terminology Service for NFDI4Health
All terms in MESH
| Label | Id | Description |
|---|---|---|
| cameroonemide A | C551222 | |
| scandinone A | C551223 | |
| trichloroethyl chloroformate | C012586 | |
| vinyl-1,8-naphthyridine | C551224 | |
| 3,5,6-trichloro-2-pyridinol | C012587 | |
| Mevalonate Kinase Deficiency | D054078 | [Autosomal recessive disorder caused by mutations in the mevalonate kinase gene. Because of the mutations cholesterol biosynthesis is disrupted and MEVALONIC ACID accumulates. It is characterized by a range of symptoms, including dysmorphic FACIES, psychomotor retardation, CATARACT, hepatosplenomegaly, CEREBELLAR ATAXIA, elevated IMMUNOGLOBULIN D, and recurrent febrile crises with FEVER; LYMPHADENOPATHY; ARTHRALGIA; EDEMA; and rash.] |
| Hypergammaglobulinemia | D006942 | [An excess of GAMMA-GLOBULINS in the serum due to chronic infections or PARAPROTEINEMIAS.] |
| Brain Diseases, Metabolic, Inborn | D020739 | [Brain disorders resulting from inborn metabolic errors, primarily from enzymatic defects which lead to substrate accumulation, product reduction, or increase in toxic metabolites through alternate pathways. The majority of these conditions are familial, however spontaneous mutation may also occur in utero.] |
| Peroxisomal Disorders | D018901 | [A heterogeneous group of inherited metabolic disorders marked by absent or dysfunctional PEROXISOMES. Peroxisomal enzymatic abnormalities may be single or multiple. Biosynthetic peroxisomal pathways are compromised, including the ability to synthesize ether lipids and to oxidize long-chain fatty acid precursors. Diseases in this category include ZELLWEGER SYNDROME; INFANTILE REFSUM DISEASE; rhizomelic chondrodysplasia (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC); hyperpipecolic acidemia; neonatal adrenoleukodystrophy; and ADRENOLEUKODYSTROPHY (X-linked). Neurologic dysfunction is a prominent feature of most peroxisomal disorders.] |
| Hereditary Autoinflammatory Diseases | D056660 | [Hereditary inflammation conditions, characterized by recurrent episodes of systemic inflammation. Common symptoms include recurrent fever, rash, arthritis, fatigue, and secondary AMYLOIDOSIS. Hereditary autoinflammatory diseases are associated with mutations in genes involved in regulation of normal inflammatory process and are not caused by AUTOANTIBODIES, or antigen specific T-LYMPHOCYTES.] |
| Cerebelloparenchymal Disorder II | C565866 | |
| Cerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome | C565867 | |
| Cerebellar Ataxia, Benign, with Thermoanalgesia | C565868 | |
| Cerebellar Ataxia and Neurosensory Deafness | C565869 | |
| 3-enolpyruvoylanthranilate | C526270 | |
| Vein of Galen Malformations | D054080 | [Congenital arteriovenous malformation involving the VEIN OF GALEN, a large deep vein at the base of the brain. The rush of arterial blood directly into the vein of Galen, without passing through the CAPILLARIES, can overwhelm the heart and lead to CONGESTIVE HEART FAILURE.] |
| 2-amino-2-deoxyisochorismate synthase, Streptomyces globisporus | C526271 | |
| Malformations of Cortical Development, Group II | D054081 | [Cortical malformations secondary to abnormal neuronal CELL MIGRATION in NEUROGENESIS. This group includes COBBLESTONE LISSENCEPHALY and PERIVENTRICULAR NODULAR HETEROTOPIA.] |
| 2-amino-2-deoxyisochorismate dehydrogenase, Streptomyces globisporus | C526272 | |
| 3-((3,5-dibromo-4-(4-hydroxy-3-(1-methylethyl)phenoxy)phenyl)amino)-3-oxopropanoic acid | C526273 |