Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| obsolete_calpainopathy | EFO_0000310 | [A heterogenous group of inherited muscular dystrophy that can be autosomal dominant or autosomal recessive. There are many forms (called LGMDs) involving genes encoding muscle membrane proteins such as the sarcoglycan (SARCOGLYCANS) complex that interacts with DYSTROPHIN. The disease is characterized by progressing wasting and weakness of the proximal muscles of arms and legs around the HIPS and SHOULDERS (the pelvic and shoulder girdles).] |
| ILSXISS7/TejJ | EFO_0002973 | |
| ILSXISS3/TejJ | EFO_0002972 | |
| cancer site | EFO_0000312 | [Location of cancer, primary or metastatic] |
| site | BFO_0000029 | [A site is an entity which consists of a characteristic spatial shape in relation to some arrangement of other material entities.] |
| ILSXISS14/TejJ | EFO_0002975 | |
| Camponotus floridanus | NCBITaxon_104421 | |
| ILSXISS13/TejJ | EFO_0002974 | |
| ILSXISS19/TejJ | EFO_0002977 | |
| ILSXISS16/TejJ | EFO_0002976 | |
| cardiac mesoderm primordium | EFO_0000315 | |
| 2102Ep | EFO_0002957 | [2102ep is an embryonal cell line] |
| musculo-skeletal system cell | EFO_0002956 | |
| Male infertility due to obstructive azoospermia of genetic origin | Orphanet_399998 | |
| NTera2 | EFO_0002959 | [A human embryonal carcinoma (EC) stem cell line used as a model system for the study of neuronal differentiation] |
| obsolete_osteogenesis imperfecta type 4 | Orphanet_216820 | |
| obsolete_progeroid and marfanoid aspect-lipodystrophy syndrome | Orphanet_300382 | |
| Rare male infertility due to adrenal disorder of genetic origin | Orphanet_399994 | |
| obsolete_osteogenesis imperfecta type 5 | Orphanet_216828 | |
| BG03 | EFO_0002960 | [A human embryonic stem cell line] |