Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| Streptomyces virginiae | NCBITaxon_1961 | |
| 1-[(4Z,7Z,10Z,13Z,16Z)-docosapentaenoyl]-sn-glycero-3-phosphocholine | CHEBI_74348 | [A lysophosphatidylcholine 22:5 in which the acyl group at position 1 is (4Z,7Z,10Z,13Z,16Z)-docosapentaenoyl and the hydroxy group at position 2 is unsubstituted.] |
| partial duplication of the short arm of chromosome 16 | MONDO_0016949 | [Chromosome 16p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 16. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 16p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.] |
| Escherichia coli BL21 | NCBITaxon_511693 | |
| partial trisomy of the long arm of chromosome 16 | MONDO_0016966 | |
| hereditary spastic paraplegia 64 | MONDO_0014303 | [An extremely rare and complex form of hereditary spastic paraplegia (see this term), reported in only 4 patients from 2 families to date, characterized by spastic paraplegia (presenting between the ages of 1 to 4 years with abnormal gait) associated with microcephaly, amyotrophy, cerebellar signs (e.g. dysarthria) aggressiveness, delayed puberty and mild to moderate intellectual disability. SPG64 is due to mutations in the ENTPD1 gene (10q24.1), encoding ectonucleoside triphosphate diphosphohydrolase 1.] |
| hereditary spastic paraplegia 62 | MONDO_0014302 | [Autosomal recessive spastic paraplegia type 62 is a pure or complex form of hereditary spastic paraplegia characterized by an onset in the first decade of life of spastic paraperesis (more prominent in lower than upper extremities) and unsteady gait, as well as increased deep tendon reflexes, amyotrophy, cerebellar ataxia, and flexion contractures of the knees, in some.] |
| partial trisomy of the long arm of chromosome 18 | MONDO_0016968 | |
| partial duplication of the long arm of chromosome 19 | MONDO_0016969 | |
| proximal myopathy with extrapyramidal signs | MONDO_0014300 | [Proximal myopathy with extrapyramidal signs is a rare, hereditary non-dystrophic myopathy characterized by proximal muscle weakness, delayed motor development, learning difficulties, and progressive extrapyramidal motor signs including chorea, dystonia and tremor. Variable additional features have been reported - ataxia, microcephaly, ophthalmoplegia, ptosis, and optic atrophy.] |
| obsolete partial duplication of the long arm of chromosome 11 | MONDO_0016962 | |
| vasculitis due to ADA2 deficiency | MONDO_0014306 | [Vasculitis due to ADA2 deficiency is a rare, genetic, systemic and rheumatologic disease due to adenosine deaminase-2 inactivating mutations, combining variable features of autoinflammation, vasculitis, and a mild immunodeficiency. Variable clinical presentation includes chronic or recurrent systemic inflammation with fever, livedo reticularis or racemosa, early-onset ischemic or hemorrhagic strokes, peripheral neuropathy, abdominal pain, hepatosplenomegaly, portal hypertension, cutaneous polyarteritis nodosa, variable cytopenia and immunoglobulin deficiency.] |
| predominantly medium-vessel vasculitis | MONDO_0015489 | |
| obsolete partial duplication of the long arm of chromosome 13 | MONDO_0016963 | |
| hereditary spastic paraplegia 63 | MONDO_0014305 | [An extremely rare and complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with delayed walking and a scissors gait) associated with short stature, and normal cognition. Periventricular deep white matter changes in the corpus callosum are noted on brain imaging. SPG63 is caused by a homozygous mutation in the AMPD2 gene (1p13.3) encoding AMP deaminase 2.] |
| partial duplication of the long arm of chromosome 14 | MONDO_0016964 | |
| hereditary spastic paraplegia 61 | MONDO_0014304 | [A rare, complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with the inability to walk unsupported and a scissors gait) associated with a motor and sensory polyneuropathy with loss of terminal digits and acropathy. SPG61 is due to a mutation in the ARL6IP1 gene (16p12-p11.2) encoding the ADP-ribosylation factor-like protein 6-interacting protein 1.] |
| partial trisomy of the long arm of chromosome 9 | MONDO_0016960 | |
| partial duplication of the long arm of chromosome 10 | MONDO_0016961 | |
| obsolete_cap myopathy | Orphanet_171881 |