Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| obsolete_metachromatic leukodystrophy, adult form | Orphanet_309271 | |
| Chuvash erythrocytosis | Orphanet_238557 | |
| Genetic polycythemia | Orphanet_250165 | |
| obsolete_Primary familial polycythemia | Orphanet_90042 | [Primary familial polycythemia is an inherited hematological disorder resulting from mutations in the erythropoietin (EPO) receptor and is characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production in the presence of low EPO levels.] |
| obsolete_familial pseudohyperkalemia | Orphanet_90044 | |
| obsolete_hereditary folate malabsorption | Orphanet_90045 | |
| obsolete_alpha-mannosidosis, adult form | Orphanet_309288 | |
| Recurrent infections - inflammatory syndrome due to zinc metabolism disorder | Orphanet_251523 | |
| obsolete_alpha-mannosidosis, infantile form | Orphanet_309282 | |
| Atypical hypotonia - cystinuria syndrome | Orphanet_238523 | |
| Hypotonia - cystinuria type 1 | Orphanet_238517 | |
| obsolete_atypical Gaucher disease due to saposin C deficiency | Orphanet_309252 | |
| obsolete_metachromatic leukodystrophy, late infantile form | Orphanet_309256 | |
| Moniliophthora perniciosa | NCBITaxon_153609 | |
| ER to Golgi transport vesicle membrane | GO_0012507 | [ The lipid bilayer surrounding a vesicle transporting substances from the endoplasmic reticulum to the Golgi. ] |
| coated vesicle membrane | GO_0030662 | [The lipid bilayer surrounding a coated vesicle.] |
| transport vesicle membrane | GO_0030658 | [The lipid bilayer surrounding a transport vesicle.] |
| vesicle membrane | GO_0012506 | [ The lipid bilayer surrounding any membrane-bounded vesicle in the cell. ] |
| endomembrane system | GO_0012505 | |
| monolayer-surrounded lipid storage body | GO_0012511 | [ A subcellular organelle of plant cells surrounded by 'half-unit' or a monolayer membrane instead of the more usual bilayer. The storage body has a droplet of triglyceride surrounded by a monolayer of phospholipids, interacting with the triglycerides and the hydrophilic head groups facing the cytosol, and containing major protein components called oleosins. ] |