Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| obsolete_floor plate | EFO_0003473 | [Multi-tissue structure that is the ventral-most aspect of the developing neural tube. The floor plate is a specialized glial structure that spans the rostral-caudal axis from the midbrain to the tail regions.] |
| obsolete_craniofacial conodysplasia | Orphanet_85168 | |
| obsolete_caudal artery | EFO_0003472 | [Extension of the dorsal aorta in the tail.] |
| Intellectual disability - cataracts - calcified pinnae - myopathy | Orphanet_3042 | |
| SE.02 two nodes or internodes visible stage | PO_0007117 | [The stage at which two nodes or two internodes are visible.] |
| obsolete_hypochord | EFO_0003475 | [Portion of tissue that arises from the arise from the lateral edges of the shield and is located immediately ventral to the notochord. The hypochord is thought to play a role in positioning the dorsal aorta. Unlike in frogs and axolotl, the hypochord does not appear to be endodermally derived.] |
| Intellectual disability - balding - patella luxation - acromicria | Orphanet_3041 | |
| obsolete_macula utricle | EFO_0003474 | |
| obsolete_median fin fold | EFO_0003477 | |
| obsolete_intermediate cell mass of mesoderm | EFO_0003476 | |
| Fatal multiple mitochondrial dysfunction syndrome type 2 | Orphanet_401874 | |
| obsolete_pronephric mesoderm | EFO_0003479 | |
| obsolete_postoptic commissure | EFO_0003478 | |
| ochratoxin A | CHEBI_7719 | [A phenylalanine derivative that has formula C20H18ClNO6.] |
| Hypomyelination - congenital cataract | Orphanet_85163 | |
| 17q21.31 microduplication syndrome | Orphanet_217340 | [The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent.] |
| obsolete_facial onset sensory and motor neuronopathy | Orphanet_85162 | |
| rhizomelic chondrodysplasia punctata type 5 | MONDO_0014743 | [Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the PEX5 gene.] |
| Astatotilapia | NCBITaxon_8152 | |
| facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation | MONDO_0014741 |