Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| Rare familial disorder with hypertrophic cardiomyopathy | Orphanet_99739 | |
| sexual dimorphism | EFO_0005951 | [phenotypic differentiation between males and females of the same species, eg in size, coloration, behaviour or another characteristic.] |
| obsolete_Amish lethal microcephaly | Orphanet_99742 | [Amish lethal microcephaly is a very rare syndrome characterized by extreme microcephaly and early death, within the first year.] |
| obsolete_King-Denborough syndrome | Orphanet_99741 | |
| folic acid reductase inhibitor | CHEBI_50683 | |
| obsolete_upper thoracic spina bifida cystica | Orphanet_268770 | |
| glycolithocholate | CHEBI_60008 | [A N-acylglycinate that is the conjugate base of glycolithocholic acid; major species at pH 7.3.] |
| obsolete_Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons | Orphanet_401964 | |
| obsolete_cystic leukoencephalopathy without megalencephaly | Orphanet_85136 | |
| obsolete_Kostmann syndrome | Orphanet_99749 | |
| Atypical progressive supranuclear palsy | Orphanet_99750 | [Atypical progressive supranuclear palsy (atypical PSP) is a group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome; see this term), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA) (see these terms).] |
| Oculomotor palsy | Orphanet_98685 | |
| Frontotemporal neurodegeneration with movement disorder | Orphanet_306708 | |
| heregulin B1 | EFO_0003308 | [Hereregulin b1 is a signaling protein for ErbB2/ErbB4 receptor heterodimers on the cardiac muscle cells.] |
| obsolete_cervicothoracic spina bifida cystica | Orphanet_268766 | |
| methimazole | CHEBI_50673 | |
| GM17741 | CLO_0017020 | [HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24] |
| obsolete_Bothnia retinal dystrophy | Orphanet_85128 | |
| posterior uveitis | EFO_1001119 | [Inflammation of the choroid as well as the retina and vitreous body. Some form of visual disturbance is usually present. The most important characteristics of posterior uveitis are vitreous opacities, choroiditis, and chorioretinitis.] |
| Blepharophimosis-intellectual disability syndrome, MKB type | Orphanet_293707 |