Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| obsolete_congenital primary megaureter, nonrefluxing and unobstructed form | Orphanet_238654 | |
| Non-hereditary late-onset primary lymphedema | Orphanet_90185 | [Non-hereditary late-onset primary lymphedema, also known as Meige-like disease, is a very rare form of primary lymphedema characterized by lower limb lymphedema mostly during puberty, but a negative family history for Meige disease (see this term).] |
| Meige disease | Orphanet_90186 | |
| obsolete_gangliosidosis | Orphanet_309144 | |
| Hyperactive patellar reflex | HP_0007083 | |
| obsolete_hyper-beta-alaninemia | Orphanet_309147 | |
| Abnormal sputum | HP_0032016 | [Abnormal appearance of material expectorated (coughed up) from the respiratory system and that is composed of mucus but may contain other substances such as pus, blood, microorganisms, and fibrin.] |
| material property | BFO_0000020 | [An experimental factor which is a property or characteristic of some other entity. For example, the mouse has the colour white.] |
| obsolete_mouth structure | EFO_0000825 | [The natural opening through which food passes into the body of an animal and which in vertebrates is typically bounded externally by the lips and internally by the pharynx and encloses the tongue, gums, and teeth., The anterior opening of the stomodeum located between the cibarium and pharynx; not to be confused with the secondary mouth (anterior opening of the cibarium) or the tertiary mouth (anterior opening of the food meatus)., The opening of the adult alimentary canal in the tip of the labrum.] |
| obsolete_ear | EFO_0000826 | [The organ of hearing.] |
| congenital nemaline myopathy | MONDO_0018701 | |
| obsolete_eye structure | EFO_0000827 | [Cavitated compound organ that consists of the neural retina, lens, cornea and iris and is the sensory apparatus of the visual system., A light-perceptive organ consisting of an aggregation of optic elements (ommatidia) generally located on each side of the head; the cuticular part (cornea) consists of several hundred circular corneal facets (lenses); bounded by the ocular sclerite., A cavitated compound organ that transduces light waves into neural signals., The compound eye is a light sensing organ composed of ommatidia., An organ of sight; especially: a nearly spherical hollow organ that is lined with a sensitive retina, is lodged in a bony orbit in the skull, is the vertebrate organ of sight, and is normally paired.n2: All the visible structures within and surrounding the orbit and including eyelids, eyelashes, and eyebrows., An organ of sight; especially: a nearly spherical hollow organ that is lined with a sensitive retina, is lodged in a bony orbit in the skull, is the vertebrate organ of sight, and is normally paired.] |
| obsolete_nose structure | EFO_0000828 | [Any sense organ (FBbt:00005155) that functions in (some) detection of chemical stimulus involved in sensory perception (GO:0050907)., 1a: The part of the face that bears the nostrils and covers the anterior part of the nasal cavity; broadly: this part together with the nasal cavity.nb: The anterior part of the head at the top or end of the muzzle: snout, proboscis.n2. The vertebrate olfactory organ., Any sense organ (FBbt:00005155) that has function 'detection of chemical stimulus involved in sensory perception (GO:0050907)'., *Subdivision of face which consists of the nasal skeleton, nasal septum and nasal cavity., 1a: The part of the face that bears the nostrils and covers the anterior part of the nasal cavity; broadly: this part together with the nasal cavity.n1b: The anterior part of the head at the top or end of the muzzle: snout, proboscis.n2: The vertebrate olfactory organ.] |
| obsolete_pancreatic colipase deficiency | Orphanet_309108 | |
| obsolete_combined pancreatic lipase-colipase deficiency | Orphanet_309111 | |
| Hypoplasia of the premaxilla | HP_0010650 | [An abnormality of the premaxilla (the embryonic structure that forms the anterior part of the maxilla) causing it to appear relatively small in size compared to the other parts of the maxilla or other facial structures.] |
| obsolete_severe early-onset axonal neuropathy due to MFN2 deficiency | Orphanet_90118 | |
| obsolete_hereditary motor and sensory neuropathy, Okinawa type | Orphanet_90117 | |
| obsolete_Disorder of mitochondrial fatty acid oxidation | Orphanet_309115 | |
| obsolete_autosomal dominant intermediate Charcot-Marie-Tooth disease | Orphanet_90114 |