Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| partial monosomy of the short arm of chromosome X | MONDO_0017004 | |
| maternal uniparental disomy of chromosome X | MONDO_0016851 | |
| ganglion or cyst of synovium/tendon/bursa | MONDO_0004874 | |
| Thermosynechococcus elongatus BP-1 | NCBITaxon_197221 | |
| developmental and epileptic encephalopathy, 18 | MONDO_0014201 | |
| Charcot-Marie-Tooth disease type 2R | MONDO_0014208 | [Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the TRIM2 gene.] |
| Okihiro syndrome due to 20q13 microdeletion | MONDO_0016863 | |
| Duane-radial ray syndrome | MONDO_0011812 | [A syndrome of multiple congenital anomalies and is characterized by ocular manifestations (uni- or bilateral Duane anomaly (95% of cases), congenital optic nerve hypoplasia or optic disc coloboma), bilateral deafness and radial ray malformation that can include thenar hypoplasia and/or hypoplasia or aplasia of the thumbs; hypoplasia or aplasia of the radii; shortening and radial deviation of the forearms; triphalangeal thumbs; and duplication of the thumb (preaxial polydactyly).The phenotype overlaps with other SALL4>/i> related disorders including acro-renal-ocular syndrome and Holt-Oram syndrome (see these terms). Transmission is autosomal dominant.] |
| Okihiro syndrome due to a point mutation | MONDO_0016864 | |
| severe early-onset pulmonary alveolar proteinosis due to MARS deficiency | MONDO_0014206 | |
| Kleefstra syndrome due to a point mutation | MONDO_0016865 | |
| Kleefstra syndrome | MONDO_0012455 | [A genetic disorder characterized by intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features.] |
| partial deletion of chromosome 1 | MONDO_0016866 | |
| severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | MONDO_0014205 | |
| Sensorineural deafness with dilated cardiomyopathy | Orphanet_217622 | [Sensorineural deafness with dilated cardiomyopathy is an extremely rare autosomal dominant syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood, and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure.] |
| familial adenomatous polyposis due to 5q22.2 microdeletion | MONDO_0016860 | |
| Alagille syndrome due to 20p12 microdeletion | MONDO_0016861 | |
| Alagille syndrome | MONDO_0007318 | [Alagille (AGS) syndrome is variably characterized by chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, vertebrae segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys.] |
| Alagille syndrome due to a JAG1 point mutation | MONDO_0016862 | |
| aldosterone-producing adenoma with seizures and neurological abnormalities | MONDO_0014200 |