Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| intestinal epithelium | UBERON_0001277 | [Epithelial layer that lines the intestine.] |
| pineal body | UBERON_0001905 | [A midline, cone like structure located in the dorso-caudal roof of the 3rd ventricle, attached by peduncles to the habenular and posterior commissures. The stalk contains nerve fibers, blood vessels, connective tissue and parenchymal cells (Paxinos, The Rat Central Nervous System, 2nd ed, pg 399).] |
| pineal complex | UBERON_0015238 | [A cluster in the epithalamus that consists of the pineal body and any associated structures, such as the parapineal gland or the parietal organ. The complex is poorly developed in mammals.] |
| GM17281 | CLO_0013097 | [HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200] |
| Human papillomavirus | NCBITaxon_10566 | |
| GM17280 | CLO_0013096 | [HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6; CYP2D6 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19] |
| GM17283 | CLO_0013095 | [HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)] |
| GM17282 | CLO_0013094 | [HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)] |
| obsolete_polydactyly | Orphanet_2913 | |
| obsolete 46,XX sex reversal 1 | MONDO_0010766 | |
| 3-methylglutaconic aciduria type 3 | MONDO_0009787 | [3-methylglutaconic aciduria type III (MGA III) is an organic aciduria characterised by the association of optic atrophy and choreoathetosis with 3-methylglutaconic aciduria.] |
| obsolete_Poland syndrome | Orphanet_2911 | |
| X-linked Charcot-Marie-Tooth disease type 3 | Orphanet_101077 | |
| optic atrophy 6 | MONDO_0009786 | |
| X-linked Charcot-Marie-Tooth disease type 4 | Orphanet_101078 | |
| opsismodysplasia | MONDO_0009785 | [Opsismodysplasia is a skeletal dysplasia characterized by congenital dwarfism and facial dysmorphism.] |
| subthalamic nucleus | UBERON_0001906 | [The subthalamic nucleus is the lens-shaped nucleus located in the ventral part of the subthalamus on the inner aspect of the internal capsule that is concerned with the integration of somatic motor function[GO].] |
| X-linked Charcot-Marie-Tooth disease type 1 | Orphanet_101075 | |
| ankyloblepharon filiforme adnatum-cleft palate syndrome | MONDO_0007123 | |
| X-linked Charcot-Marie-Tooth disease type 2 | Orphanet_101076 |