Terminology Service for NFDI4Health
All terms in HP
| Label | Id | Description |
|---|---|---|
| Hypoplastic philtrum | HP_0005326 | [Underdevelopment of the philtrum.] |
| Progressive visual field defects | HP_0007987 | |
| Increased retinal vascularity | HP_0007986 | |
| Hemifacial hypertrophy | HP_0005323 | [Unilateral overgrowth of facial tissues, including muscles, bones and skin.] |
| glial cell development | GO_0021782 | [The process aimed at the progression of a glial cell over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell.] |
| Retinal arteriolar occlusion | HP_0007985 | [Blockage of retinal arteriole, generally associated with interruption of blood flow and oxygen delivery to affected regions of the retina.] |
| Electronegative electroretinogram | HP_0007984 | [A dark-adapted bright flash electroretinogram in which the b-wave that is of markedly lower amplitude than the associated a-wave (source: Holder GE., Inherited Chorioretinal Dystrophies: A Textbook and Atlas; 2014; p.17; ISBN 978-3-540-69466-3).] |
| Mandibulofacial dysostosis | HP_0005321 | [A type of craniofacial dysostosis associated with abnormalities of the external ears, mirognathia, macrostomia, coloboma of the lower eyelid, and cleft palate. This is a bundled term that is left in the HPO now for convenience with legacy annotations but should not be used for new annotations.] |
| Craniofacial dysostosis | HP_0004439 | [A characteristic appearance resulting from defective ossification of craniofacial bones.] |
| Prominent nasal septum | HP_0005322 | |
| obsolete Central tapetoretinal dystrophy | HP_0007982 | |
| Lack of facial subcutaneous fat | HP_0005320 | |
| Minimal subcutaneous fat | HP_0003717 | |
| obsolete Concentric narrowing of visual field | HP_0007981 | |
| Abnormality of depressor anguli oris muscle | HP_3000028 | [An abnormality of a depressor anguli oris muscle.] |
| Absent retinal pigment epithelium | HP_0007980 | |
| Abnormality of depressor labii inferioris | HP_3000029 | [An abnormality of a depressor labii inferioris.] |
| obsolete Abnormality of common carotid artery plus branches | HP_3000026 | |
| Abnormality of buccinator muscle | HP_3000027 | [An abnormality of a buccinator muscle.] |
| Abnormal facial artery morphology | HP_3000024 | [Any structural abnormality of a facial artery, one of the branches of the external carotid artery.] |