Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| polycystic kidney disease | MONDO_0020642 | [A usually autosomal dominant and less frequently autosomal recessive genetic disorder characterized by the presence of numerous cysts in the kidneys leading to end-stage renal failure. The autosomal dominant trait is associated with abnormalities on the short arm of chromosome 16. Symptoms in patients with the autosomal dominant trait usually appear at middle age and include abdominal pain, hematuria, and high blood pressure. Patients may develop brain aneurysms and liver cysts. Patients with the autosomal recessive trait present with progressive renal failure early in life and symptoms resulting from hepatic fibrosis. The autosomal recessive trait is associated with abnormalities of chromosome 6. Polycystic kidney disease may also result as a side effect in patients on renal dialysis.] |
| gray platelet syndrome | MONDO_0007686 | [Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by macrothrombocytopenia, myelofibrosis, splenomegaly and typical gray appearance of platelets on Wright stained peripheral blood smear.] |
| Grant syndrome | MONDO_0007683 | [Grant syndrome is a rare osteogenesis imperfecta-like disorder, described in two patients to date, characterized clinically by persistent wormian bones, blue sclera, mandibular hypoplasia, shallow glenoid fossa, and campomelia. There have been no further descriptions in the literature since 1986.] |
| X-11530 measurement | EFO_0021249 | [Quantification of the amount of X-11530 in a sample.] |
| goiter, multinodular 1, with or without Sertoli-Leydig cell tumors | MONDO_0007681 | [Any multinodular goiter in which the cause of the disease is a mutation in the DICER1 gene.] |
| obsolete_partial duplication of the short arm of chromosome 3 | Orphanet_262707 | |
| aromatase excess syndrome | MONDO_0007690 | [Aromatase excess syndrome is a rare, genetic endocrine disease characterized by increased levels of estrogen due to elevated extraglandular aromatase activity. Males present with heterosexual precocious puberty which manifests with pre- or peripubertal onset of gynecomastia, premature growth spurt, accelerated bone maturation resulting in decreased adult stature, and may present mild hypogonadotropic hypogonadism. Female patients may have isosexual precocious puberty or not have any manifestations at all.] |
| X-12116 measurement | EFO_0021289 | [Quantification of the amount of X-12116 in a sample.] |
| X-12094 measurement | EFO_0021286 | [Quantification of the amount of X-12094 in a sample.] |
| diaph1-related sensorineural hearing loss-thrombocytopenia syndrome | MONDO_0044635 | |
| brachydactyly type A7 | MONDO_0019679 | [Brachydactyly type A7 (Smorgasbord type) is a form of brachydactyly that presents with the characteristic features of brachydactyly type A2 (shortening of the middle phalanges of the index finger and, sometimes, of the little finger) and type D (shortening of the distal phalanx of the thumb) plus various additional features.] |
| brachydactyly | MONDO_0021004 | [A disease characterized by the presence of brachydactyly, including syndromic and non-syndromic forms.] |
| X-12093 measurement | EFO_0021285 | [Quantification of the amount of X-12093 in a sample.] |
| flying phobia | EFO_1001889 | [Fear of flying is a fear of being on an airplane (aeroplane), or other flying vehicle, such as a helicopter, while in flight. It is also referred to as flying phobia, flight phobia, aviophobia or aerophobia (although the last also means a fear of drafts or of fresh air)., An overwhelming, irrational, and persistent fear of traveling in an aircraft.] |
| X-12100--hydroxytryptophan measurement | EFO_0021288 | [Quantification of the amount of X-12100--hydroxytryptophan in a sample.] |
| eye infection | EFO_1001888 | [An infectious process affecting any part of the eye. Causes include viruses and bacteria. Symptoms include itching and discomfort in the eye, watery eyes, eye pain and discharge, and blurring vision. Representative examples include pink eye, blepharitis, and trachoma.] |
| X-12095--N1-methyl-3-pyridone-4-carboxamide measurement | EFO_0021287 | [Quantification of the amount of X-12095--N1-methyl-3-pyridone-4-carboxamide in a sample.] |
| trisomy 8p | MONDO_0017013 | [Trisomy 8p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with highly variable phenotype ranging from no dysmorphic features and only mild intellectual disability to patients with severe developmental delay, neonatal hypotonia, short stature, profound intellectual disability, mild dysmorphic features (e.g. mild ptosis, hypertelorism, down-slanting palpebral fissures, broad nasal bridge, short, prominent philtrum, abnormal dentition) and structural brain abnormalities. Autism, epilepsy, and spastic paraplegia have also been reported.] |
| X-12056 measurement | EFO_0021282 | [Quantification of the amount of X-12056 in a sample.] |
| X-12040 measurement | EFO_0021281 | [Quantification of the amount of X-12040 in a sample.] |