Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| xeroderma pigmentosum group E | MONDO_0010213 | [An autosomal recessive genetic disorder caused by mutations in the DDB2 gene. This disease exhibits the mildest degree of sun sensitivity of all xeroderma pigmentosum complementation groups, although individuals are at high risk for skin cancer.] |
| xeroderma pigmentosum group D | MONDO_0010212 | [Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC2 gene.] |
| Elevated circulating creatine kinase concentration | HP_0003236 | [An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.] |
| xeroderma pigmentosum group F | MONDO_0010215 | [Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC4 gene.] |
| xeroderma pigmentosum variant type | MONDO_0010214 | [Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer.] |
| Hypertyrosinemia | HP_0003231 | [An increased concentration of tyrosine in the blood.] |
| Abnormal circulating aromatic amino acid concentration | HP_0004338 | [Any deviation from the normal concentration of a aromatic amino acid in the blood circulation.] |
| Knee pain | HP_0030839 | [An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the knee.] |
| Hip pain | HP_0030838 | [An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the hip.] |
| mucinous bronchioloalveolar adenocarcinoma | MONDO_0000894 | [A bronchiolo-alveolar adenocarcinoma that is characterized by a tumour cells containing abundant mucin in their cytoplasm and composed of tall columnar cells growing along alveolar walls without stromal invasion.] |
| lung colloid adenocarcinoma | MONDO_0027772 | [A morphologic variant of lung adenocarcinoma characterized by the presence of mucin pools containing islands of well differentiated adenocarcinoma cells.] |
| colon medullary carcinoma | MONDO_0000892 | [A rare, invasive colon adenocarcinoma characterized by the presence of sheets of malignant epithelial cells with vesicular nuclei, prominent nucleoli, and abundant eosinophilic cytoplasm. It usually has a favorable prognosis.] |
| colorectal medullary carcinoma | MONDO_0020794 | [A rare, invasive colorectal adenocarcinoma characterized by the presence of sheets of malignant epithelial cells with vesicular nuclei, prominent nucleoli, and abundant eosinophilic cytoplasm. It usually has a favorable prognosis.] |
| gingival fibromatosis-facial dysmorphism syndrome | MONDO_0009228 | [Gingival fibromatosis - facial dysmorphism is a very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism.] |
| hereditary spastic paraplegia 38 | MONDO_0012867 | [A hereditary spastic paraplegia that has material basis in variation in the chromosome region 4p16-p15.] |
| wrinkly skin syndrome | MONDO_0010208 | [A type of cutis laxa that is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism).] |
| thrombophilia due to protein S deficiency, autosomal dominant | MONDO_0012868 | [Autosomal dominant form of hereditary thrombophilia due to congenital protein S deficiency.] |
| hereditary thrombophilia due to congenital protein S deficiency | MONDO_0019144 | [Congenital protein S deficiency is an inherited coagulation disorder characterized by recurrent venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein S.] |
| woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome | MONDO_0010207 | |
| Zika virus congenital syndrome | MONDO_0000890 | [A congenital birth syndrome that arises from materal Zika infection.] |