Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| dermatophytosis | MONDO_0004678 | [A common fungal infection of the stratum corneum of the skin, hair, or nails by a dermatophyte. It is characterized by itching, inflammation, redness of the skin, small papular vesicles, central clearing, fissures, scaling, and/or hair loss in the affected area.] |
| penis carcinoma in situ | MONDO_0004671 | [A in situ carcinoma that involves the penis.] |
| squamous carcinoma in situ | MONDO_0004693 | [A malignant epithelial neoplasm confined to the squamous epithelium, without invasion of the underlying tissues.] |
| methylmalonic acidemia | MONDO_0002012 | [A rare autosomal recessive inherited disorder caused by mutations of the MUT, MMAA, MMAB, MMADHC, and MCEE genes. It is characterized by abnormalities in the metabolism of lipids and proteins. Signs and symptoms usually appear early in life and vary from mild to life threatening. They include vomiting, dehydration, hypotonia, developmental delays, hepatomegaly, lethargy, intellectual disabilities, and chronic kidney disease.] |
| acute myeloid leukemia, t(3;12)(q23;p12.3) | MONDO_0100400 | [Any acute myeloid leukemia that has the chromosomal anomaly t(3;12)(q23;p12.3). (A cytogenetic abnormality that refers to the translocation of the long arm (q23) of chromosome 3 and the short arm (p12.3) of chromosome 12. It is associated with ETV6/MECOM (EVI1) fusions, myeloproliferative disorders, myelodysplastic syndromes and acute myelogenous leukemia.)] |
| acute myeloid leukemia, del(5q31-q32) | MONDO_0100401 | [Any acute myeloid leukemia that has the chromosomal anomaly del(5q31-q32). (A cytogenetic abnormality that refers to deletion of chromosome bands 31-32 on the long arm of chromosome 5.)] |
| acute myeloid leukemia, del(13q14-q21) | MONDO_0100402 | [Any acute myeloid leukemia that has the chromosomal anomaly del(13q14-q21). (A cytogenetic abnormality that refers to deletion of chromosome bands 14-21 on the long arm of chromosome 13.)] |
| lupus erythematosus | MONDO_0004670 | [An autoimmune, connective tissue chronic inflammatory disorder affecting the skin, joints, kidneys, lungs, heart, and the peripheral blood cells. It is more commonly seen in women than men. Variants include discoid and systemic lupus erythematosus.] |
| acute myeloid leukemia, loss of chromosome 17p | MONDO_0100403 | [Any acute myeloid leukemia that has the chromosomal anomaly loss of chromosome 17p. (A cytogenetic abnormality that refers to the loss of all or part of the short arm of chromosome 17 (17p).)] |
| acute myeloid leukemia, MLL gene rearrangement | MONDO_0100404 | [Any acute myeloid leukemia that has the chromosomal anomaly MLL gene rearrangement. (A molecular abnormality indicating rearrangement of the MLL (KMT2A) gene.)] |
| sickle cell-hemoglobin c disease syndrome | MONDO_0016669 | |
| sickle cell disease associated with an other hemoglobin anomaly | MONDO_0016667 | |
| Schuurs-Hoeijmakers syndrome | MONDO_0014006 | [Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome is a rare, genetic, syndromic intellectual disability syndrome characterized by mild to moderate intellectual disability, developmental delay (with speech and language development more severely affected) and facial dysmorphism which typically includes full, arched eyebrows, hypertelorism, down-slanting palpebral fissures, long eyelashes, ptosis, low-set, simple ears, bulbous nasal tip, flat philtrum, wide mouth with downturned corners and thin upper lip and diastema of the teeth. Association with infantile hypotonia, seizures, cryptorchidism in males and congenital abnormalities, including cardiac, cerebral or occular defects, may be observed.] |
| immunoglobulin-mediated membranoproliferative glomerulonephritis | MONDO_0014005 | [Glomerulonephritis characterized by mesangial proliferation, endocapillary proliferation, and glomerular capillary wall remodeling with immune complex deposits from classical complement pathway activation.] |
| familial nephrotic syndrome | MONDO_0002350 | [An instance of nephrotic syndrome that is caused by an inherited modification of the individual's genome.] |
| Abnormal electroretinogram | HP_0000512 | [Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography.] |
| phosphohydroxylysinuria | MONDO_0014008 | |
| sickle cell disease and related diseases | MONDO_0017146 | |
| sickle cell-beta-thalassemia disease syndrome | MONDO_0016668 | [Sickle beta thalassemia is an inherited condition that affects hemoglobin, the protein in red blood cells that carries oxygen to different parts of the body.It is a type of sickle cell disease. Affected people havea differentchange (mutation) in each copy of their HBB gene: onethat causes red blood cells to form a 'sickle' or crescent shape and a second that is associated with beta thalassemia, a blood disorder that reduces the production of hemoglobin. Depending on the beta thalassemia mutation, people may have no normal hemoglobin (called sickle beta zero thalassemia) or a reduced amount of normal hemoglobin (called sickle beta plus thalassemia). The presence of sickle-shaped red blood cells, which often breakdown prematurely and can get stuck in blood vessels, combined with the reduction or absence of mature redblood cells leadsto the many signs and symptoms of sickle beta thalassemia. Features, which may include anemia (low levels of red blood cells), repeated infections, and frequent episodes of pain, generally develop in early childhood and vary in severity depending on the amount of normal hemoglobin made. Sickle beta thalassemia is inherited in an autosomal recessive manner. Treatment is supportive and depends on the signs and symptoms present in each person.] |
| spleen volume | EFO_0600047 | [Quantification of the volume of the spleen.] |