Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| Syntrichia ruralis | NCBITaxon_38588 | |
| bile duct adenocarcinoma | MONDO_0003193 | [A carcinoma that arises from glandular epithelial cells of the bile duct] |
| familial temporal lobe epilepsy 7 | MONDO_0014639 | [A temporal lobe epilepsy characterized by autosomal dominant inheritance of focal seizures with prominent auditory symptoms and that has material basis in heterozygous mutation in the RELN gene on chromosome 7q22.] |
| obsolete_cephalocele | Orphanet_268817 | |
| uveal disorder | MONDO_0002661 | [A non-neoplastic or neoplastic disorder that affects the uvea. Representative examples include uveitis, chorioretinitis, and uveal melanoma.] |
| Ullrich congenital muscular dystrophy 2 | MONDO_0014654 | [Any Ullrich congenital muscular dystrophy in which the cause of the disease is a mutation in the COL12A1 gene.] |
| infantile liver failure syndrome 2 | MONDO_0014659 | [Any infantile liver failure in which the cause of the disease is a mutation in the NBAS gene.] |
| infantile liver failure | MONDO_0000023 | |
| severe achondroplasia-developmental delay-acanthosis nigricans syndrome | MONDO_0014658 | [Severe achondroplasia-developmental delay-acanthosis nigricans syndrome is characterised by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3).] |
| Cerebral degeneration | HP_0007313 | |
| lapatinib | CHEBI_49603 | [A quinazoline that has formula C29H26ClFN4O4S.] |
| obsolete_embryonic Malpighian tubule tip cell | EFO_0003390 | |
| colorblindness, partial | MONDO_0000014 | |
| obsolete_hypopharynx anlage in statu nascendi | EFO_0003392 | |
| obsolete_embryonic outer optic lobe primordium | EFO_0003391 | |
| Bradyrhizobium japonicum USDA 110 | NCBITaxon_224911 | |
| obsolete_embryonic stomatogastric nervous system | EFO_0003394 | |
| obsolete_hypopharyngeal sense organ primordium | EFO_0003393 | |
| obsolete_prothoracic gland | EFO_0003396 | |
| stricture or kinking of ureter | MONDO_0002674 |