Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| Autosomal dominant intermediate Charcot-Marie-Tooth disease type D | Orphanet_100046 | |
| Autosomal dominant intermediate Charcot-Marie-Tooth disease type C | Orphanet_100045 | |
| L1-S8R | EFO_0007600 | [L1-S8R is a human iPSC line derived from L1-S8 after transduction with lentiviral vector pLM-fSV2A (Papapetrou et al NBT 2011) expressing OCT4, SOX2, KLF4 and cMYC.] |
| obsolete_lissencephaly with cerebellar hypoplasia type E | Orphanet_100015 | |
| obsolete_lissencephaly with cerebellar hypoplasia type D | Orphanet_100014 | |
| Anonychia - microcephaly | Orphanet_1094 | |
| obsolete_lissencephaly with cerebellar hypoplasia type F | Orphanet_100016 | |
| obsolete_lissencephaly with cerebellar hypoplasia type A | Orphanet_100011 | |
| total ventricular volume measurement | EFO_0007602 | [quantification of the total volume of a brain's four ventricles, usuallly through an MRI scan] |
| obsolete_lissencephaly with cerebellar hypoplasia type C | Orphanet_100013 | |
| MN1 | EFO_0007601 | [MN1 is a cholinergic motor neuron cell line derived from a fusion of N18TG2 with embryonic mouse spinal cord motor neurons (clone 2F1.10.14.7)] |
| obsolete_lissencephaly with cerebellar hypoplasia type B | Orphanet_100012 | |
| obsolete_Maffucci syndrome | Orphanet_163634 | [Maffucci syndrome is a very rare genetic bone and skin disorder characterized by multiple enchondromas, leading to bone deformities, combined with multiple dark, irregularly shaped hemangiomas or less commonly lymphangiomas.] |
| T1080 | EFO_0007608 | [Country Sweden Location Staff 11 Latitude (min/max) 55.6561 / 55.6561 ] |
| Lipowiec ecotype | EFO_0007607 | [Arabidopsis thaliana of geographical location Lipowiec/Chrzanow Poland] |
| Ba-1 | EFO_0007606 | [Common Name thale cress, thale-cress, mouse-ear cress Class ecotype Type Brassicaceae Description Blackmount, UK] |
| Blackmount ecotype | EFO_0007605 | [Arabidopsis thaliana ecotype of geographical location Blackmount, UK] |
| somite 13 | UBERON_2000975 | [Undifferentiated mesodermal component of early trunk segment 13 or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome. Kimmel et al, 1995.] |
| Flat occiput | HP_0005469 | [Reduced convexity of the occiput (posterior part of skull).] |
| Facial hyperostosis | HP_0005465 | [Excessive growth (overgrowth) of the facial bones, that is of the facial skeleton.] |