Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| obsolete_1p31p32 microdeletion syndrome | Orphanet_401986 | |
| GM17739 | CLO_0017022 | [HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24] |
| GM17740 | CLO_0017021 | [HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8] |
| hepatocyte growth factor | EFO_0003303 | |
| GM17743 | CLO_0017024 | [HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100] |
| GM17738 | CLO_0017023 | [HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100] |
| anti-CD28 | EFO_0003304 | |
| GM17742 | CLO_0017025 | [HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100] |
| obsolete_isolated sulfite oxidase deficiency | Orphanet_99731 | |
| antinuclear antibody measurement | EFO_0005949 | [A measurement of the antinuclear antibodies (antibodies that attack the body's own tissue) in a biological specimen., The determination of the amount of antinuclear antibodies present in a sample.] |
| minocycline | CHEBI_50694 | |
| obsolete_sulfite oxidase deficiency due to molybdenum cofactor deficiency | Orphanet_99732 | |
| obsolete_myotonia permanens | Orphanet_99735 | |
| chiro-inositol | CHEBI_23098 | |
| obsolete_myotonia fluctuans | Orphanet_99734 | |
| Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type | Orphanet_401979 | |
| Scapuloperoneal amyotrophy | Orphanet_85146 | |
| Genetic motor neuron disease | Orphanet_98505 | |
| obsolete_acetazolamide-responsive myotonia | Orphanet_99736 | |
| obsolete_MEND syndrome | Orphanet_401973 |