Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| Blackfan-Diamond anemia | Orphanet_124 | |
| Rare constitutional medullar aplasia | Orphanet_68383 | |
| Björnstad syndrome | Orphanet_123 | |
| Birt-Hogg-Dubé syndrome | Orphanet_122 | [Birt-Hogg-Dube (BHD) syndrome is characterized by skin lesions, kidney tumors, and pulmonary cysts that may be associated with pneumothorax. It is a rare clinicopathologic condition named after the three Canadian physicians who reported the syndrome in 1977.] |
| Noccaea caerulescens | NCBITaxon_107243 | |
| obsolete_CHILD syndrome | Orphanet_139 | [CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.] |
| obsolete_CHARGE syndrome | Orphanet_138 | [CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness).] |
| obsolete_sulfite oxidase deficiency due to molybdenum cofactor deficiency type C | Orphanet_308400 | |
| obsolete_congenital disorder of glycosylation | Orphanet_137 | |
| CADASIL | Orphanet_136 | [CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary cerebrovascular disorder characterized by mid-adult onset of recurrent subcortical ischemic stroke and cognitive impairment progressing to dementia in addition to migraines with aura and mood disturbances seen in about a third of patients.] |
| CACH syndrome | Orphanet_135 | |
| obsolete_Ketoacidosis due to beta-ketothiolase deficiency | Orphanet_134 | |
| obsolete_butyrylcholinesterase deficiency | Orphanet_132 | |
| Streptomyces reticuliscabiei | NCBITaxon_146821 | |
| obsolete_Brugada syndrome | Orphanet_130 | [Brugada syndrome (BrS) manifests with ST segment elevation in right precordial leads (V1 to V3), incomplete or complete right bundle branch block, and susceptibility to ventricular tachyarrhythmia and sudden death. BrS is an electrical disorder without overt myocardial abnormalities.] |
| Campylobacter | NCBITaxon_194 | |
| Campylobacter jejuni | NCBITaxon_197 | |
| Campylobacter coli | NCBITaxon_195 | |
| obsolete_disorder of beta and omega amino acid metabolism | Orphanet_308407 | |
| Helicobacter hepaticus | NCBITaxon_32025 |