Terminology Service for NFDI4Health
All terms in DOID
| Label | Id | Description |
|---|---|---|
| autosomal dominant inheritance | GENO_0000147 | [An inheritance pattern wherein a trait caused by alleles of an autosomal gene manifests to some degree in heterozygotes.] |
| B-cell adult acute lymphocytic leukemia | DOID_0060592 | |
| adult acute lymphocytic leukemia | DOID_5604 | |
| Noonan syndrome 8 | DOID_0060586 | [A Noonan syndrome that has_material_basis_in aused by heterozygous mutation in the RIT1 gene on chromosome 1q22.] |
| Noonan syndrome | DOID_3490 | [A syndrome that is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms.] |
| Noonan syndrome 9 | DOID_0060587 | [A Noonan syndrome that has_material_basis_in heterozygous mutation in the SOS2 gene on chromosome 14q21.] |
| Noonan syndrome 10 | DOID_0060588 | [A Noonan syndrome that has_material_basis_in heterozygous mutation in the LZTR1 gene on chromosome 22q11.] |
| Yunis-Varon syndrome | DOID_0060589 | [A syndrome characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. It is usually lethal in infancy and has_material_basis_in homozygous or compound heterozygous mutation in the FIG4 gene on chromosome 6q21.] |
| Protomacleaya | NCBITaxon_119225 | |
| Ochlerotatus <genus> | NCBITaxon_190765 | |
| Noonan syndrome 2 | DOID_0060580 | [A Noonan syndrome characterized by hypertrophic obstructive cardiomyopathy and that has_material_basis_in an autosomal recessive inheritance.] |
| Noonan syndrome 3 | DOID_0060581 | [A Noonan syndrome that has_material_basis_in heterozygous mutation in the KRAS gene.] |
| Noonan syndrome 4 | DOID_0060582 | [A Noonan syndrome that has_material_basis_in heterozygous mutation in the SOS1 gene on chromosome 2p22.] |
| Noonan syndrome 5 | DOID_0060583 | [A Noonan syndrome that has_material_basis_in mutation in the RAF1 gene.] |
| Noonan syndrome 6 | DOID_0060584 | [A Noonan syndrome that has_material_basis in heterozygous mutation in the NRAS gene on chromosome 1p13.] |
| Noonan syndrome 7 | DOID_0060585 | [A Noonan syndrome that has_material_basis in heterozygous mutation in the BRAF gene.] |
| Campylobacter | NCBITaxon_194 | |
| Campylobacteraceae | NCBITaxon_72294 | |
| Campylobacter jejuni | NCBITaxon_197 | |
| nail | UBERON_0001705 |