Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| obsolete_Charcot-Marie-Tooth disease type 4H | Orphanet_99954 | [Charcot-Marie-Tooth disease, type 4H (CMT4H) is a demyelinating CMT peripheral sensorimotor polyneuropathy] |
| Caldicellulosiruptor owensensis | NCBITaxon_55205 | |
| obsolete_self-healing collodion baby | Orphanet_281122 | |
| obsolete_acral self-healing collodion baby | Orphanet_281127 | |
| P2Y12 defect | Orphanet_36355 | [P2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate.] |
| Pectobacterium carotovorum | NCBITaxon_554 | |
| azathioprine | CHEBI_2948 | |
| obsolete_Charcot-Marie-Tooth disease type 4B2 | Orphanet_99956 | [Charcot-Marie-Tooth disease, type 4B2 (CMT4B2) is a severe early-onset demyelinating CMT peripheral sensorimotor polyneuropathy.] |
| Erwinia amylovora | NCBITaxon_552 | |
| Erwinia chrysanthemi | NCBITaxon_556 | |
| Pectobacterium carotovorum subsp. carotovorum | NCBITaxon_555 | |
| X-linked intellectual disability - precocious puberty - obesity | Orphanet_85318 | |
| obsolete_non-immunoglobulin-mediated membranoproliferative glomerulonephritis | Orphanet_329918 | |
| X-linked intellectual disability - epilepsy - progressive joint contractures - dysmorphism | Orphanet_85319 | |
| Ochrobactrum anthropi | NCBITaxon_529 | |
| obsolete_Familial vascular leukoencephalopathy | Orphanet_36383 | |
| Familial cervical artery dissections | Orphanet_36382 | |
| obsolete_intermediate maple syrup urine disease | Orphanet_268162 | |
| Generalized epilepsy with febrile seizures-plus | Orphanet_36387 | [Generalized epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome in which family members display a seizure disorder from the GEFS+ spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS) (see these terms).] |
| obsolete_hereditary sensory and autonomic neuropathy type 1 | Orphanet_36386 |