Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| invertebrate limb | EFO_0000884 | [In animals, one of the paired appendages ordinarily used in locomotion and support. In insects, applied only to the three pairs of thoracic legs; in most insects, composed of the coxa, trochanter, femur, tibia, tarsus and posttarsus., The walking appendages of each segment of the ventral adult external thorax.] |
| Hemoglobin E to Total Hemoglobin Ratio Measurement | EFO_0009218 | [The determination of the ratio of hemoglobin E compared to total hemoglobin present in a sample. The measurement may be expressed as a ratio or percentage. [ NCI ]] |
| Hemoglobin F to Total Hemoglobin Ratio Measurement | EFO_0009219 | [The determination of the ratio of hemoglobin F compared to total hemoglobin present in a sample. The measurement may be expressed as a ratio or percentage. [ NCI ]] |
| obsolete_wing | EFO_0000885 | [In adult pterygotous insects, the paired organs of flight occurring on the metathoracic segment. In Diptera, the metathoracic wings are represented by the halteres., In adult pterygotous insects, one of the paired organs of flight occurring on the mesothoracic segment., A flight organ of the adult external thorax that is derived from a dorsal mesothoracic disc., 1: One of the movable feathered or membranous paired appendages by means of which a bird, bat, or insect is able to fly; also: such an appendage even though rudimentary if possessed by an animal belonging to a group characterized by the power of flight.n2: Any of various anatomical structures especially of a flying fish or flying lemur providing means of limited flight.] |
| obsolete_haltere | EFO_0000886 | [Paired dorsal 'appendage' of the adult mesothoracic segment. It is a freely movable, capitate stalk. It develops from the dorsal mesothoracic disc. It is used for flight balance.] |
| obsolete_liver | EFO_0000887 | [1: A large very vascular glandular organ of vertebrates that secretes bile and causes important changes in many of the substances contained in the blood (as by converting sugars into glycogen which it stores up until required and by forming urea).n2: Any of various large compound glands associated with the digestive tract of invertebrate animals and probably concerned with the secretion of digestive enzymes., Lobular organ which has as its parts lobules connected to the biliary tree. Examples: There is only one liver.] |
| 14q24.1q24.3 microdeletion syndrome | MONDO_0018429 | |
| partial deletion of the long arm of chromosome 14 | MONDO_0016912 | [Chromosome 14q deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 14.] |
| genetic multiple congenital anomalies/dysmorphic syndrome | MONDO_0043005 | [An instance of multiple congenital anomalies/dysmorphic syndrome that is caused by an inherited modification of the individual's genome.] |
| AXIN2-related attenuated familial adenomatous polyposis | MONDO_0018426 | |
| attenuated familial adenomatous polyposis | MONDO_0016362 | [Attenuated familial adenomatous polyposis (AFAP) is a mild form of familial adenomatous polyposis characterized by the presence of fewer than 100 adenomatous colonic polyps, a more proximal colonic location, a delayed age of colorectal cancer (CRC) onset and a more limited expression of the extracolonic features.] |
| Huntington disease-like syndrome due to C9ORF72 expansions | MONDO_0018425 | |
| Huntington disease-like syndrome | MONDO_0015548 | |
| movement disorder | EFO_0004280 | [Neurological conditions resulting in abnormal voluntary or involuntary movement, which may impact the speed, fluency, quality and ease of movement., Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions.] |
| obsolete_hereditary mucoepithelial dysplasia | Orphanet_1839 | |
| obsolete_mammary-digital-nail syndrome | Orphanet_238744 | |
| 9q31.1q31.3 microdeletion syndrome | MONDO_0018428 | |
| partial monosomy of the long arm of chromosome 9 | MONDO_0016908 | |
| obsolete_mesomelic dysplasia, Kantaputra type | Orphanet_1836 | |
| obsolete_ulna metaphyseal dysplasia syndrome | Orphanet_1837 |