Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| GM17275 | CLO_0013202 | [HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)] |
| Osteopetrosis with renal tubular acidosis | Orphanet_2785 | [Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis (see this term), renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications.] |
| transferrin glycosylation measurement | EFO_0021537 | [Quantification of N-linked transferrin glycans in a sample.] |
| transferrin measurement | EFO_0006341 | [The determination of the amount of transferrin present in a sample.] |
| blood titanium measurement | EFO_0021532 | [Quantification of titanium in a blood sample.] |
| obsolete_Leukoencephalopathy - metaphyseal chondrodysplasia | Orphanet_83629 | |
| blood strontium measurement | EFO_0021531 | [Quantification of strontium in a blood sample.] |
| abdominal fat cell number | EFO_0021534 | [Quanitification of abdominal fat cells in a sample.] |
| venom gland | UBERON_0011579 | [A gland that secretes venom.] |
| blood vanadium measurement | EFO_0021533 | [Quantification of vanadium in a blood sample.] |
| blood tin measurement | EFO_0021530 | [Quantification of tin in a blood sample.] |
| obsolete_pelvis syndrome | Orphanet_83628 | |
| Illumina HiSeq 2500 | EFO_0008565 | [The Illumina HiSeq 2500 is a sequencing machine developed by Illumina.] |
| Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells | Orphanet_331240 | |
| Illumina NextSeq 550 | EFO_0008566 | [The Illumina NextSeq 550 is a benchtop high-throughput sequencing machine developed by Illumina. Its primary applications include exome sequencing, targeted gene sequencing (amplicon, gene panel), whole-transcriptome sequencing and cytogenomic arrays.] |
| GM17279 | CLO_0013210 | [HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)] |
| Illumina HiSeq X | EFO_0008567 | [The Illumina HiSeq X is an ultra-high-throughput sequencing machine developed by Illumina. Sets of 5 or 10 HiSeq X instruments make up the Illumina HiSeq X Five and Illumina HiSeq X Ten systems, respectively.] |
| obsolete_otofaciocervical syndrome | Orphanet_2792 | |
| obsolete_otodental syndrome | Orphanet_2791 | |
| obsolete_autosomal dominant osteosclerosis, Worth type | Orphanet_2790 |