Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| Hypochromic microcytic anemia | HP_0004840 | [A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes.] |
| Anemia of inadequate production | HP_0010972 | [A kind of anemia characterized by inadequate production of erythrocytes.] |
| Prorubricyte Count | EFO_0009250 | [The determination of the amount of prorubricytes present in a sample. [ NCI ]] |
| obsolete dysostosis of genetic origin with limb anomaly as a major feature | MONDO_0018455 | |
| Rubricyte Count | EFO_0009251 | [The determination of the amount of rubricytes present in a sample. [ NCI ]] |
| dysostosis of genetic origin | MONDO_0018454 | [An instance of dysostosis that is caused by a modification of the individual's genome.] |
| dysostosis | MONDO_0018234 | [A group of disorders in which the skeletal involvement is predominantly manifested as abnormalities of individual bones or in a group of bones.] |
| Segmented Neutrophils to Neutrophils Ratio Measurement | EFO_0009252 | [The determination of the ratio of segmented neutrophils compared to neutrophils present in a sample. The measurement may be expressed as a ratio or percentage. [NCI ]] |
| obsolete rare genetic bone development disorder | MONDO_0018457 | |
| Immature Reticulocyte Fraction Measurement | EFO_0009253 | [The determination of the ratio of immature reticulocytes to total reticulocytes present in a sample. [ NCI ]] |
| Metarhizium anisopliae | NCBITaxon_5530 | |
| X-linked distal hereditary motor neuropathy | MONDO_0018451 | [X-linked form of distal hereditary motor neuropathy.] |
| distal hereditary motor neuropathy | MONDO_0018894 | |
| Familial partial lipodystrophy due to AKT2 mutations | Orphanet_79085 | |
| Genetic subcutaneous tissue disorder | Orphanet_183484 | |
| Rare genetic endocrine disease | Orphanet_156638 | |
| genetic lipodystrophy | MONDO_0020087 | [Genetic lipodystrophy.] |
| spinal muscular atrophy with respiratory distress type 2 | MONDO_0018450 | [Spinal muscular atrophy with respiratory distress type 2 is a rare, genetic, motor neuron disease characterized by progressive early respiratory failure associated with diaphragm paralysis, distal muscular weakness, joint contractures, and axial hypotonia with preserved antigravity limb movements. Phenotype overlaps considerably with SMARD type 1 but is differentiated by a mutation in a different gene.] |
| Familial partial lipodystrophy, Köbberling type | Orphanet_79084 | |
| familial atypical multiple mole melanoma syndrome | MONDO_0018453 |