Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| obsolete_6q terminal deletion syndrome | Orphanet_75857 | |
| lateral ethmoid | ZFA_0000226 | [Large, paired cartilage bones separating the olfactory region from the orbit. Arises from both perichondral and endochondral ossifications (Harrington 1955). Bordered by the mesethmoid anteriorly and overlain by the frontal dorsally, each lateral ethmoid extends medially to meet its fellow posteriorly along the midline. Develops from the laminae orbitonasales.] |
| Progressive external ophthalmoplegia - myopathy - emaciation | Orphanet_352447 | |
| Congenital muscular dystrophy, Ullrich type | Orphanet_75840 | |
| Qualitative or quantitative defects of collagen 6 | Orphanet_207090 | |
| Cabbage leaf curl virus | NCBITaxon_51336 | [Cabbage leaf curl virus is a bipartite geminivirus that infects a broad range of plants within the Brassicaceae, including cabbage, cauliflower, and Arabidopsis.] |
| obsolete_Permanent neonatal diabetes mellitus | Orphanet_99885 | [Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM, see this term) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment.] |
| obsolete_transient neonatal diabetes mellitus | Orphanet_99886 | |
| Fundulus heteroclitus | NCBITaxon_8078 | |
| Hyperparathyroidism-jaw tumor syndrome | Orphanet_99880 | |
| obsolete_autosomal recessive spastic paraplegia type 68 | Orphanet_401825 | |
| obsolete_rhizomelic syndrome, Urbach type | Orphanet_3098 | |
| obsolete_Meacham syndrome | Orphanet_3097 | [Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations.] |
| obsolete_riboflavin transporter deficiency | Orphanet_97229 | |
| obsolete_autosomal recessive spastic paraplegia type 67 | Orphanet_401820 | |
| obsolete_constitutional dyserythropoietic anemia | Orphanet_293830 | |
| obsolete_ligneous conjunctivitis | Orphanet_97231 | |
| obsolete_fingerprint body myopathy | Orphanet_97232 | |
| obsolete_glycogen storage disease due to phosphoglycerate mutase deficiency | Orphanet_97234 | |
| obsolete_Craniofacial-ulnar-renal syndrome | Orphanet_293843 |