Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| obsolete_muscle-eye-brain disease | Orphanet_588 | |
| obsolete_Muir-Torre syndrome | Orphanet_587 | [Muir-Torre syndrome (MTS) is a form of hereditary nonpolyposis colon cancer (HNPCC) characterized by cutaneous sebaceous tumors, keratoacanthomas and at least one visceral malignancy, most frequently gastrointestinal carcinoma.] |
| obsolete_cystic fibrosis | Orphanet_586 | |
| Multiple sulfatase deficiency | Orphanet_585 | |
| obsolete_mucopolysaccharidosis type 7 | Orphanet_584 | |
| obsolete_mucopolysaccharidosis type 6 | Orphanet_583 | |
| obsolete_mucopolysaccharidosis type 4 | Orphanet_582 | |
| obsolete_mucopolysaccharidosis type 3 | Orphanet_581 | |
| obsolete_mucopolysaccharidosis type 2 | Orphanet_580 | |
| obsolete_Severe combined immunodeficiency due to complete RAG1/2 deficiency | Orphanet_331206 | |
| Cardiac anomalies-developmental delay-facial dysmorphism syndrome | Orphanet_369891 | |
| Early infantile epileptic encephalopathy without suppression burst | Orphanet_369894 | |
| Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies | Orphanet_369897 | |
| cambium | PO_0005597 | [A lateral meristem (PO:0020145) that has as part a single layer of cambial initial cells (PO:0000295) and their derivatives, arranged orderly in radial files.] |
| obsolete_distal myopathy | Orphanet_599 | |
| obsolete_multiminicore myopathy | Orphanet_598 | |
| Central core disease | Orphanet_597 | [Central core disease (CCD) is an inherited neuromuscular disorder characterised by central cores on muscle biopsy and clinical features of a congenital myopathy.] |
| obsolete_X-linked centronuclear myopathy | Orphanet_596 | |
| obsolete_centronuclear myopathy | Orphanet_595 | |
| obsolete_myofibrillar myopathy | Orphanet_593 |