Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| Pelizaeus-Merzbacher disease, transitional form | MONDO_0017223 | [The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD.] |
| alpha-2-HS-glycoprotein measurement | EFO_0008020 | [quantification of the amount of alpha-2-HS-glycoprotein in a sample] |
| distal trisomy 16q | MONDO_0019887 | [Distal trisomy 16q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 16, with variable phenotype principally characterized by developmental delay, severe intellectual disability, hypotonia, facial dysmorphism (incl. high, prominent forehead, epicanthic folds, dysplastic ears, broad/depressed nasal bridge, malar hypoplasia, narrow and arched palate, thin upper lip vermilion, micrognathia) and hand/feet anomalies (e.g. arachnodactyly, talipes equinovarus). Cardiac defects, genitourinary malformations and vertebral anomalies are also associated. Thrombocytopenia and recurrent infections have also been reported.] |
| Pelizaeus-Merzbacher disease in female carriers | MONDO_0017224 | [Pelizaeus-Merzbacher disease (PMD) in female carriers is the presentation of PMD in some women carrying mutations in the PLP1 gene (Xq22).] |
| obsolete_Scheie syndrome | Orphanet_93474 | [Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.] |
| alpha-2-macroglobulin receptor-associated protein measurement | EFO_0008021 | [quantification of the amount of alpha-2-macroglobulin receptor-associated protein in a sample] |
| null syndrome | MONDO_0017225 | [The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy.] |
| distal trisomy 13q | MONDO_0019886 | [Distal trisomy 13q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 13, with variable phenotype principally characterized by intellectual disability, psychomotor delay, craniofacial dysmorphism (incl. microcephaly, bushy eyebrows, long curled eyelashes, hypotelorism, low-set ears, prominent nasal bridge, long philtrum, high palate, thin upper lip), short neck, polydactyly, and hemangiomas. Cardiac, urogenital and neural tube defects, as well as umbilical and inguinal hernias, seizures and hypotonia, have also been reported.] |
| obsolete_Hurler syndrome | Orphanet_93473 | [Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy.] |
| distal trisomy 6q | MONDO_0019881 | [Distal trisomy 6q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 6, with highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, craniofacial dysmorphism (microcephaly, flat facial profile, frontal bossing, hypertelorism, downward-slanting palpebral fissures, flat nasal bridge, anteverted nares, bow shaped mouth, micrognathia), short webbed neck and joint contractures. Cardiac, urogenital, ophthalmologic and hand and foot anomalies, as well as umbilical hernia, spasticity, and seizures, are other features that have been reported.] |
| distal trisomy 5q | MONDO_0019880 | [Distal trisomy 5q is a rare chromosomal anomaly syndrome, resulting from a partial duplication of the long arm of chromosome 5, characterized by short stature, moderate intellectual disability, and craniofacial dysmorphism (microcephaly, flat facies, large, low-set dysplastic ears, down-slanted, almond-shaped palpebral fissures, hypertelorism, epicanthal folds, small nose, long philtrum, small mouth with thin upper lip, and micrognathia). Patients also frequently present speech and cognitive delay, cardiac (ventriculomegaly, ventricular septum defect) and skeletal abnormalities (craniosynostosis, radial agenesis, ulnar hypoplasia, brachydactyly) and genital malformations (hypospadias, cryptorchidism).] |
| distal trisomy 9q | MONDO_0019883 | [Distal trisomy 9q is a rare chromosomal anomaly, resulting from the partial trisomy of the long arm of chromosome 9, with a variable phenotype mostly characterized by psychomotor and speech delay, intellectual disability, hypotonia, long narrow habitus, craniofacial dysmorphism (incl. micro/dolichocephaly, facial asymmetry, narrow palpebral fissures, deep-set eyes, strabismus, microphthalmia, abnormally shaped ears, microstomia, micro/retrognathia) and hand and feet anomalies (incl. arachnodactyly, camptodactyly, abnormal implantation of digits). Congenital flexion contractures and limited joint movements have also been observed.] |
| Pelizaeus-Merzbacher disease, connatal form | MONDO_0017221 | [The connatal form of Pelizaeus-Merzbacher disease (PMD) is the most severe form of PMD.] |
| distal trisomy 8q | MONDO_0019882 | [Distal trisomy 8q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 8, with a highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, short stature, craniofacial dysmorphism (microcephaly, prominent forehead, hypertelorism, abnormal palpebral fissures, low-set, large ears, anteverted tip of nose, micro/retrognathia), congenital heart defects and skeletal and limb anomalies. Other reported features include ophthalmologic abnormalities (e.g. megalocornea), cryptorchidism, hypertrichosis, and neurologic manifestations (e.g. hypotonia, hearing loss, and seizures).] |
| annexin A1 measurement | EFO_0008026 | [quantification of the amount of annexin A1 in a sample] |
| annexin A2 measurement | EFO_0008027 | [quantification of the amount of annexin A2 in a sample] |
| apolipoprotein E isoform E2 measurement | EFO_0008028 | [quantification of the amount of apolipoprotein E isoform E2 in a sample] |
| apolipoprotein E measurement | EFO_0008029 | [quantification of the amount of apolipoprotein E in a sample] |
| angiogenin measurement | EFO_0008022 | [quantification of the amount of angiogenin in a sample] |
| angiopoietin-1 receptor, soluble measurement | EFO_0008023 | [quantification of the amount of angiopoietin-1 receptor, soluble in a sample] |