Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| obsolete_presumptive rhombomere 4 | EFO_0003450 | |
| Ramsay-Hunt syndrome | Orphanet_3020 | |
| childhood kidney neoplasm | MONDO_0002730 | [A kidney neoplasm that occurs during childhood.] |
| obsolete_presumptive hypochord | EFO_0003453 | |
| obsolete_presumptive rhombomere 8 | EFO_0003452 | |
| obsolete_epibranchial placode | EFO_0003455 | [Neurogenic placodes that generate neurons of the distal facial, glossopharyngeal and vagal ganglia, which convey sensation from the viscera, including pharyngeal endoderm structures, to the CNS. The epibranchial placodes are positioned ventrally to the ear and dorsally to the posterior pharyngeal pouches] |
| obsolete_presumptive floor plate | EFO_0003454 | [Part of the neural plate fated to become floor plate.] |
| obsolete_vagal placode 2 | EFO_0003457 | |
| Pro-Hyp | CHEBI_74767 | [A dipeptide composed of L-proline and L-hydroxyproline residues. It is a biomarker for bone collagen degradation.] |
| skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome | MONDO_0014704 | |
| obsolete_vagal placode 1 | EFO_0003456 | |
| obsolete_vagal placode 4 | EFO_0003459 | |
| Diaphyseal medullary stenosis - bone malignancy | Orphanet_85182 | [Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma).] |
| obsolete_vagal placode 3 | EFO_0003458 | |
| obsolete_caudal regression sequence | Orphanet_3027 | |
| obsolete_craniometadiaphyseal dysplasia, wormian bone type | Orphanet_85184 | |
| ring chromosome 14 | MONDO_0014708 | [Ring chromosome 14 syndrome is characterized by intellectual deficit, retinal and skin pigmentation disorders, seizures, and dysmorphic features, including flat occiput, epicanthal folds, downward slanting eyes, flat nasal bridge, upturned nostrils, short neck, and large low set ears.] |
| 19q13.11 microdeletion syndrome | Orphanet_217346 | [The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails.] |
| autosomal dominant optic atrophy plus syndrome | MONDO_0014720 | [Autosomal dominant optic atrophy plus syndrome (ADOA plus) is a variant of autosomal dominant optic atrophy (ADOA) associating the typical optic atrophy with other extra-ocular manifestations such as sensorineural deafness, myopathy, chronic progressive external ophthalmoplegia, ataxia and peripheral neuropathy. More rarely, other manifestations have been associated with this condition, such as spastic paraplegia, multiple-sclerosis like illness.] |
| autosomal dominant hereditary axonal motor and sensory neuropathy | MONDO_0015360 |