Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| 3-4 toe syndactyly | HP_0009779 | [Syndactyly with fusion of toes three and four.] |
| Toe syndactyly | HP_0001770 | [Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as "Symphalangism".] |
| obsolete_polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | EFO_0003113 | |
| NCI-H125 | EFO_0003116 | |
| EBC-1 | EFO_0003115 | |
| NCI-H157 | EFO_0003118 | |
| NCI-H1334 | EFO_0003117 | |
| NCI-H1648 | EFO_0003119 | |
| macrocephaly, dysmorphic facies, and psychomotor retardation | MONDO_0014863 | |
| autosomal dominant striatal neurodegeneration type 1 | MONDO_0012205 | [Autosomal dominant striatal degeneration is a neurologic disorder characterized by variable movement abnormalities due to dysfunction in the striatal part of the basal ganglia.] |
| Czech dysplasia, metatarsal type | MONDO_0012206 | [Czech dysplasia, metatarsal type is a form of skeletal dysplasia characterised by severe arthropathy beginning in childhood and hypoplasia/dysplasia of the third, fourth and/or fifth toes.] |
| familial hyperthyroidism due to mutations in TSH receptor | MONDO_0012203 | [Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history.] |
| familial pseudohyperkalemia | MONDO_0012204 | [An inherited, mild, non-hemolytic subtype of hereditary stomatocytosis that is associated with a temperature-dependent anomaly in red cell membrane permeability to potassium that leads to high in vitro potassium levels in samples stored below 37°C. FP is not associated with additional hematological abnormalities, although affected individuals may show some mild abnormalities like macrocytosis.] |
| Bartonella henselae | NCBITaxon_38323 | |
| LK-2 | EFO_0003141 | |
| LC2/AD | EFO_0003140 | |
| CLIP-seq | EFO_0003143 | [CLIP-Seq also called HITS-CLIP is a method used for finding which RNA species interact with a particular RNA-binding protein (or an RNA). It employs crosslinking between RNA and the protein, followed by immunoprecipitation with antibodies for the protein.] |
| colon neuroendocrine neoplasm | MONDO_0002882 | [A neoplasm with neuroendocrine differentiation that arises from the colon. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade).] |
| Lu130 | EFO_0003142 | |
| high output heart failure | EFO_0003145 | [High-output heart failure is a heart condition that occurs when the cardiac output is higher than normal.] |