Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| acute myeloid leukemia, t(6;9)(p23;q34.1) | MONDO_0100382 | [Any acute myeloid leukemia that has the chromosomal anomaly t(6;9)(p23;q34.1). (A cytogenetic abnormality that refers to the translocation of the short arm (p23) of chromosome 6 and the long arm (q34.1) of chromosome 9. It is associated with DEK/NUP214 fusions, acute myeloid leukemia and myelodysplastic syndromes.)] |
| GM17841 | CLO_0016527 | [HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100] |
| acute myeloid leukemia, t(11;19)(q23;p13) | MONDO_0100383 | [Any acute myeloid leukemia that has the chromosomal anomaly t(11;19)(q23;p13). (A cytogenetic abnormality that refers to the translocation of the long arm (q23) of chromosome 11 and the short arm (p13) of chromosome 19. It is associated with KMT2A (MLL) fusions, including those with MLLT1 (ENL) and ELL, and acute myeloid leukemia.)] |
| acute myeloid leukemia, t(11;19)(q23;p13.1) | MONDO_0100384 | [Any acute myeloid leukemia that has the chromosomal anomaly t(11;19)(q23;p13.1). (A cytogenetic abnormality that refers to the translocation of the long arm (q23) of chromosome 11 and the short arm (p13.1) of chromosome 19. It is associated with the development of acute myeloid leukemia with variant MLL translocations and topoisomerase II inhibitor-related acute myeloid leukemia.)] |
| acute myeloid leukemia, t(11;19)(q23.3;p13.3) | MONDO_0100385 | [Any acute myeloid leukemia that has the chromosomal anomaly t(11;19)(q23.3;p13.3). (A cytogenetic abnormality that refers to the translocation of the long arm (q23.3) of chromosome 11 and the short arm (p13.3) of chromosome 19. It is associated with KMT2A (MLL)/MLLT1 (ENL) fusions and acute myeloid leukemia.)] |
| acute myeloid leukemia, t(v;11q23.3) | MONDO_0100386 | [Any acute myeloid leukemia that has the chromosomal anomaly t(v;11q23.3). (A chromosomal abnormality consisting of the translocation of genetic material from any one of several chromosomes to the 11q23.3 region, resulting in an MLL gene rearrangement.)] |
| acute myeloid leukemia, Monosomy 7 | MONDO_0100387 | [Any acute myeloid leukemia that has the chromosomal anomaly Monosomy 7. (A chromosomal abnormality consisting of the absence of one of the copies of chromosome 7 in somatic cells.)] |
| acute myeloid leukemia, Monosomy 5 | MONDO_0100388 | [Any acute myeloid leukemia that has the chromosomal anomaly Monosomy 5. (A cytogenetic aneuploidy abnormality that refers to the presence of one chromosome 5 only. It is associated with the development of refractory anemia with excess blasts, refractory anemia with multilineage dysplasia, and refractory anemia with multilineage dysplasia and ringed sideroblasts.)] |
| acute myeloid leukemia, Trisomy 8 | MONDO_0100389 | [Any acute myeloid leukemia that has the chromosomal anomaly Trisomy 8. (A chromosomal abnormality consisting of the presence of a third copy of chromosome 8 in somatic cells.)] |
| GM17835 | CLO_0016520 | [HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100] |
| GM17831 | CLO_0016522 | [HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100] |
| GM17828 | CLO_0016521 | [HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100] |
| Bluetongue virus 2 | NCBITaxon_35328 | |
| Clostridium tetani | NCBITaxon_1513 | |
| Microphthalmia - retinitis pigmentosa - foveoschisis - optic disc drusen | Orphanet_251279 | |
| Isolated anophthalmia - microphthalmia | Orphanet_2542 | |
| neuronopathy, distal hereditary motor, type 5 | MONDO_0100350 | |
| episodic kinesigenic dyskinesia 1 | MONDO_0100352 | |
| episodic kinesigenic dyskinesia | MONDO_0044202 | [Paroxysmal kinesigenic dyskinesia (PKD) is a form of paroxysmal dyskinesia, characterized by recurrent brief involuntary hyperkinesias, such as choreoathetosis, ballism, athetosis or dystonia, triggered by sudden movements.] |
| megacystis-microcolon-intestinal hypoperistalsis syndrome 1 | MONDO_0100354 |