Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| Imperforate oropharynx - costo vetebral anomalies | Orphanet_2759 | |
| Pyle disease | MONDO_0009943 | [A bone dysplasia characterised by genu valgum, metaphyseal anomalies with broadening of the long bones extending into the diaphyses and giving the femora and tibiae an 'Erlenmeyer flask'' appearance, widening of the ribs and clavicles, platyspondyly and cortical thinning.] |
| microtia | MONDO_0010920 | [A congenital malformation of the external ear, seen more frequently in males, that occurs sporadically or is inherited, that is characterized by unilateral (79-93% of cases, 60% of which involve the right ear) or bilateral small and abnormally shaped auricles and that is often associated with atresia or stenosis of the ear canal, attention deficit disorders and delayed language development. The variation in auricle size ranges from grade I, where the auricle is simply smaller than normal, to grade IV, also known as anotia, where there is a complete absence of the external ear and of the auditory canal.] |
| pyknoachondrogenesis | MONDO_0009942 | [Pyknoachondrogenesis is a lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis.] |
| Orofaciodigital syndrome type 10 | Orphanet_2756 | |
| pycnodysostosis | MONDO_0009940 | [Pycnodysostosis is a genetic lysosomal disease characterized by short stature, increased density of the bones (osteosclerosis/osteopetrosis), and brittle bones. Other features may include underdevelopment of the tips of the fingers with absent or small nails, an abnormal collarbone (clavicle), distinctive facial features including a large head with a small face and chin, underdeveloped facial bones, a high forehead, and dental abnormalities.Pycnodysostosis is an autosomal recessive condition caused by mutations in the gene that codes the enzyme cathepsin K (CTSK) on chromosome 1q21. The diagnosis of pycnodysostosis is based on physical features and X-ray findings. Molecular genetic testing is available. Treatment should address the symptoms found in each patient and may include orthopedic monitoring, treatment of fractures, appropriate dental care, and craniofacial surgery.] |
| Orofaciodigital syndrome type 8 | Orphanet_2755 | [Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit.] |
| velo-facial-skeletal syndrome | MONDO_0010925 | [Velo-facial-skeletal syndrome is a very rare multiple congenital anomalies syndrome characterized by short stature, facial dysmorphism (elongated face, hypertelorism, broad and high nasal bridge, mild epicanthus, posteriorly angulated ears, narrow and high-arched palate), skeletal anomalies (mesomelic brachymelia, short broad hands, prominent finger pads, short stubby thumbs, hyperextensibility of small joints, small feet), hypernasality and normal intelligence. Delayed bone age has also been reported.] |
| X-12728 measurement | EFO_0021327 | [Quantification of the amount of X-12728 in a sample.] |
| Joubert syndrome with orofaciodigital defect | Orphanet_2754 | [Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly.] |
| D-2-hydroxyglutaric aciduria | MONDO_0010924 | [D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid.] |
| X-12726 measurement | EFO_0021326 | [Quantification of the amount of X-12726 in a sample.] |
| Orofaciodigital syndrome type 4 | Orphanet_2753 | [Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet.] |
| X-12734 measurement | EFO_0021329 | [Quantification of the amount of X-12734 in a sample.] |
| Orofaciodigital syndrome type 3 | Orphanet_2752 | [Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit.] |
| familial hypocalciuric hypercalcemia 3 | MONDO_0010926 | [Any familial hypocalciuric hypercalcemia in which the cause of the disease is a mutation in the AP2S1 gene.] |
| X-12729 measurement | EFO_0021328 | [Quantification of the amount of X-12729 in a sample.] |
| X-14304--leucylalanine measurement | EFO_0021367 | [Quantification of the amount of X-14304--leucylalanine in a sample.] |
| Pachygyria | HP_0001302 | [Pachygyria is a malformation of cortical development with abnormally wide gyri with sulci 1,5-3 cm apart and abnormally thick cortex measuring more than 5 mm (radiological definition). See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly.] |
| X-14208--phenylalanylserine measurement | EFO_0021366 | [Quantification of the amount of X-14208--phenylalanylserine in a sample.] |