Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| 16p13.11 microduplication syndrome | MONDO_0016837 | [16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies.] |
| Rare genetic immune disease | Orphanet_183770 | |
| distal 7q11.23 microduplication syndrome | MONDO_0016832 | [Distal 7q11.23 microduplication syndrome is a rare chromosomal anomaly characterized by a predominantly neuropsychiatric phenotype with a few dysmorphic characteristics. Speech delay, learning difficulties, attention deficit hyperactivity disorder, bipolar disorder and aggressiveness have been reported.] |
| 14q12 microdeletion syndrome | MONDO_0016833 | [14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months.] |
| ulcerative stomatitis | MONDO_0004848 | [Inflammation of the mouth mucosa associated with the presence of ulcers.] |
| tendinitis | MONDO_0004857 | [Inflammation of a tendon, usually resulting from an overuse injury. It is characterized by swelling of the tendon, tenderness around the inflamed tendon, and pain while moving the affected area of the body.] |
| Tendinopathy | EFO_1001434 | [Disorders that are causes by overuse of tendons., Clinical syndrome describing overuse tendon injuries characterized by a combination of PAIN, diffuse or localized swelling, and impaired performance. Distinguishing tendinosis from tendinitis is clinically difficult and can be made only after histopathological examination.] |
| 2-deoxy-D-glucose | CHEBI_15866 | [A deoxyglucose that has formula C6H12O5., A deoxy glucose having a hydroxy group replaced by a hydrogen at position 2; an antimetabolite of glucose with antiviral activity, which acts by inhibiting the glycosylation of glycoproteins and glycolipids. Used as an antiherpes agent.] |
| myopathy-growth delay-intellectual disability-hypospadias syndrome | MONDO_0016827 | |
| familial visceral myopathy | MONDO_0016829 | [A rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections.n.] |
| visceral myopathy | MONDO_0020754 | |
| 21q22.11q22.12 microdeletion syndrome | MONDO_0016845 | |
| distal 22q11.2 microduplication syndrome | MONDO_0016846 | [Distal 22q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with a highly variable phenotype principally characterized by developmental delay, intellectual disability, hypotonia, growth retardation, velopharyngeal insufficiency, mild craniofacial dysmorphism (microcephaly, tall/broad forehead, small downslating palpebral fissures, hooded eyelids, flat nasal bridge, low posterior hairline) and digital anomalies. Congenital heart malformations, visual and hearing impairment, urogenital abnormalities, behavourial problems and seizures have also been reported.] |
| trisomy 1q | MONDO_0016847 | [Trisomy 1q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 1, with a highly variable phenotype principally characterized by intellectual disability, short stature, craniofacial dysmorphism (incl. macro/microcephaly, prominent forehead, posteriorly rotated, low-set ears, abnormal palpebral fissures, microphthalmia, broad, flat nasal bridge, high-arched palate, micro/retrognathia), cardiac defects and urogenital anomalies. Patients may also present cerebral (e.g. ventriculomegaly) and gastrointestinal malformations, as well as dystonic tremor and recurrent respiratory tract infections.] |
| 20p12.3 microdeletion syndrome | MONDO_0016841 | [20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome, variable developmental delay and facial dysmorphism.] |
| partial monosomy of the short arm of chromosome 20 | MONDO_0016898 | |
| paternal 20q13.2q13.3 microdeletion syndrome | MONDO_0016842 | [Paternal 20q13.2q13.3 microdeletion syndrome is a recently described syndrome characterized by severe pre- and post-natal growth retardation, microcephaly, intractable feeding difficulties, mild psychomotor retardation, hypotonia and facial dysmorphism.] |
| 20q13.33 microdeletion syndrome | MONDO_0016843 | [20q13.33 is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 20 with a highly variable phenotype typically characterized by hypotonia, intellectual disability, cognitive and language deficits (including decreased or absent speech), pre and post-natal growth retardation, feeding difficulties, microcephaly, and malformed hands and feet. Neurodevelopmental disorders (including hyperactivity, social interactive problems and autism spectrum disorder), seizures and dysmorphic facial features (high forehead, hypertelorism, malformed ears, broad nasal bridge, bulbous nasal tip, thin upper lip, small chin) are frequently associated.] |
| trisomy 20p | MONDO_0016844 | [Trisomy 20p is a chromosomal disorder resulting from duplication of all or part of the short arm of chromosome 20. It is mostly characterized by normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features.] |
| obsolete_familial dilated cardiomyopathy | Orphanet_217607 |