Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| biopsy number | EFO_0000287 | [A biopsy number is an information entity about the numerical label given to a partciular biopsy obtained.] |
| biopsy site | EFO_0000288 | [The physical site from which tissue has been removed from a living organism. Does not imply any statistical significance, i.e. that it is a statistically representative sample of the whole.] |
| 1-methylnicotinamide | CHEBI_16797 | [A pyridinium ion comprising nicotinamide having a methyl group at the 1-position.] |
| CHST3-related skeletal dysplasia | Orphanet_263463 | |
| Zea mays subsp. parviglumis | NCBITaxon_76912 | |
| DKC1-related disorder | MONDO_0100152 | [Any dyskeratosis congenita in which the cause of the disease is a mutation in the DKC1 gene.] |
| obsolete_mucopolysaccharidosis type 4B | Orphanet_309310 | |
| fat body primordium | FBbt_00005067 | [The fat body primordium after the gonadal sheath primordium splits from it during stage 14. By stage 15, the different primordia fuse to form a continuous layer (Hoshizaki et al., 1994). The precursor fat cells it contains continue differentiating until stage 17, when the primordium becomes the fat body proper (Campos-Ortega and Hartenstein, 1997).] |
| Imerslund-Grasbeck syndrome type 2 | MONDO_0100157 | [An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but usually occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Treatment with vitamin B12 results in sustained clinical improvement of the anemia. The proteinuria is nonprogressive, and affected individuals do not have deterioration of kidney function; correct diagnosis is important to prevent unnecessary treatment. The disorder results from a combination of vitamin B12 deficiency due to selective malabsorption of the vitamin, and impaired reabsorption of LMW proteins in the proximal renal tubule. These defects are caused by disruption of the AMN/CUBN complex that forms the 'cubam' receptor responsible for intestinal uptake of B12/GIF (CBLIF).] |
| Imerslund-Grasbeck syndrome | MONDO_0009853 | [Imerslund-Grasbeck syndrome (IGS) or selective vitamin B12 (cobalamin) malabsorption with proteinuria is a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B12 therapy and appears in childhood.] |
| paroxetine | CHEBI_7936 | |
| obsolete_ichthyosis hystrix gravior | Orphanet_79504 | |
| obsolete_ichthyosis hystrix of Curth-Macklin | Orphanet_79503 | |
| obsolete_cholesterol-ester transfer protein deficiency | Orphanet_79506 | |
| obsolete_hyperinsulinism due to HNF4A deficiency | Orphanet_263455 | |
| obsolete_DOORS syndrome | Orphanet_79500 | [DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures.] |
| obsolete_hyperinsulinism due to INSR deficiency | Orphanet_263458 | |
| obsolete_punctate palmoplantar keratoderma type 2 | Orphanet_79502 | |
| obsolete_punctate palmoplantar keratoderma type 1 | Orphanet_79501 | |
| obsolete_disorder of sialic acid metabolism | Orphanet_309319 |