Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| endothelin-1 | CHEBI_153671 | |
| median nodule of the upper lip | MONDO_0007904 | [Median nodule of the upper lip is a minor trait of the lip transmitted in an autosomal dominant fashion.] |
| Li-Fraumeni syndrome 1 | MONDO_0007903 | [Any Li-Fraumeni syndrome in which the cause of the disease is a mutation in the TP53 gene.] |
| obsolete_hereditary angioedema | Orphanet_91378 | |
| ursodeoxycholate | CHEBI_78604 | [A bile acid anion that is the conjugate base of ursodeoxycholic acid, obtained by deprotonation of the carboxy group; major species at pH 7.3.] |
| obsolete_osteosclerosis-developmental delay-craniosynostosis syndrome | Orphanet_178377 | |
| familial multiple lipomatosis | MONDO_0007909 | [Familial multiple lipomatosis is a rare, benign, genetic skin disease characterized by numerous, painless, encapsulated lipomas located in the subcutaneous adipose tissue of the trunk and extremities, with relative sparing of the neck and shoulders. Association with gastroduodenal lipomatosis, brain anomalies or lipomatosis, and refractory epilepsy has been reported.] |
| familial partial lipodystrophy, Dunnigan type | MONDO_0007906 | [Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis.] |
| primary intestinal lymphangiectasia | MONDO_0007916 | [Primary intestinal lymphangiectasia (PIL) is a rare intestinal disease characterized by dilated intestinal lacteals which cause lymph leakage into the small bowel lumen. Clinical manifestations include edema related to hypoalbuminemia (protein-losing enteropathy), asthenia, diarrhea, lymphedema and failure to thrive in children.] |
| obsolete_familial thoracic aortic aneurysm and aortic dissection | Orphanet_91387 | |
| ring chromosome 3 | MONDO_0019904 | [Ring chromosome 3 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by pre- and postnatal growth retardation, short stature, developmental delay, mild to severe intellectual disability, microcephaly and mild dysmorphic features (incl. triangular face, dysplastic ears, upslanting palpebral fissures, epicanthic folds, broad nasal bridge, full nasal tip, long philtrum, downturned corners of the mouth, and micro/retrognathia). Additional manifestations reported include hypotonia, mild articular limitation, hearing loss, digital anomalies (i.e. clinodacytyly, brachydactyly), café-au-lait patches and hypospadias.] |
| ring chromosome 2 | MONDO_0019903 | [Ring chromosome 2 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by intrauterine growth retardation, failure to thrive, developmental delay, hypotonia, mild dysmorphic features (incl. microcephaly, short forehead, upslanting palpebral fissures, hypertelorism, epicanthal folds, wide nasal bridge, broad nasal tip, long philtrum, thin upper lip, micrognathia, short neck), skeletal anomalies (e.g. kyphosis, brachydactyly, clinodactyly, talipes equinovarus) and dermatological features (i.e. café-au-lait spots). Patients may also present ventriculoseptal defects and genital abnormalities (e.g. genital hypoplasia, phimosis, cryptorchidism).] |
| ring chromosome 11 | MONDO_0019906 | [Ring chromosome 11 syndrome is an autosomal anomaly characterized by variable clinical features, including early growth retardation and short stature, microcephaly, developmental delay, some degree of intellectual disability, facial dysmorphism and café-au-lait spots. In some cases, congenital heart disease and endocrine abnormalities have been reported.] |
| ring chromosome 9 | MONDO_0019905 | [Ring chromosome 9 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including developmental delay, some degree of intellectual disability, facial dysmorphism, microcephaly, congenital heart anomalies, and variable genital, limb and skeletal anomalies.] |
| non-distal monosomy 12q | MONDO_0019900 | |
| obsolete_congenital vertical talus | Orphanet_178382 | |
| monosomy 13q34 | MONDO_0019902 | [Monosomy 13q34 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 13, principally characterized by global developmental delay, mild intellectual disability, obesity and mild craniofacial dysmorphism (microcephaly, wide rectangular forehead, downslanting palpebral fissures, mild ptosis, prominent nose with long nasal bridge and broad tip, small chin). Other variable reported features include congenital heart defects, hand and foot anomalies (e.g. polydactyly) and agenesis of the corpus callosum.] |
| non-distal monosomy 20q | MONDO_0019901 | |
| obsolete_isolated cryptophthalmia | Orphanet_91396 | |
| obsolete_isolated ankyloblepharon filiforme adnatum | Orphanet_91397 |