Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| obsolete_qualitative or quantitative defects of beta-myosin heavy chain (MYH7) | Orphanet_209185 | |
| Ma-Mel-11 cell | BTO_0005339 | [ Established melanoma cell line from the Skin Cancer Unit at the German Cancer Research Center, Heidelberg. ] |
| melanoma cell line | BTO_0000849 | |
| obsolete_partial deletion of chromosome 1 | Orphanet_261766 | |
| Vibrio vulnificus CMCP6 | NCBITaxon_216895 | |
| Thin upper lip vermilion | HP_0000219 | [Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective).] |
| Thin vermilion border | HP_0000233 | [Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips).] |
| 6-pyruvoyl-tetrahydropterin synthase deficiency | Orphanet_13 | |
| coagulation factor XA measurement | EFO_0020266 | [The determination of the amount of coagulation factor XA in a sample] |
| obsolete_qualitative or quantitative defects of selenoprotein N1 | Orphanet_209193 | |
| obsolete_abetalipoproteinemia | Orphanet_14 | |
| cofilin-1 measurement | EFO_0020267 | [The determination of the amount of cofilin-1 in a sample] |
| obsolete_achondroplasia | Orphanet_15 | |
| Gingival bleeding | HP_0000225 | [Hemorrhage affecting the gingiva.] |
| coiled-coil domain-containing protein 80 measurement | EFO_0020268 | [The determination of the amount of coiled-coil domain-containing protein 80 in a sample] |
| Blue cone monochromatism | Orphanet_16 | [Blue cone monochromatism (BCM) is a recessive X-linked disease characterized by severely impaired color discrimination, low visual acuity, nystagmus, and photophobia, due to dysfunction of the red (L) and green (M) cone photoreceptors. BCM is as an incomplete form of achromatopsia (see this term).] |
| Color-vision disease | Orphanet_98658 | |
| collagen alpha-1(VIII) chain measurement | EFO_0020269 | [The determination of the amount of collagen alpha-1(VIII) chain in a sample] |
| Congenital lethal myopathy, Compton-North type | Orphanet_210163 | |
| Fatal infantile lactic acidosis with methylmalonic aciduria | Orphanet_17 |