Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| Genetic porokeratosis | Orphanet_183444 | |
| spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome | MONDO_0014725 | |
| Genetic acrokeratoderma | Orphanet_183441 | |
| Roifman syndrome | MONDO_0014722 | |
| LP.04 four leaves visible stage | PO_0007115 | [The stage at which leaves at four nodes, other than the cotyledonary node, are visible above ground.] |
| LP.11 eleven leaves visible stage | PO_0007116 | [The stage at which leaves at eleven nodes, other than the cotyledonary node, are visible above ground.] |
| rosette growth stage | PO_0007113 | [Stages of growth based on expansion of the rosette in Arabidopsis.] |
| 1 main shoot growth stage | PO_0007112 | [The stage at which vegetative structures are being produced by SAM.] |
| sporophyte development stage | PO_0028002 | [A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death.] |
| obsolete_rhombomere 6 | EFO_0003480 | [Hindbrain segment or neuromere.] |
| obsolete_Astley-Kendall dysplasia | Orphanet_85175 | |
| Growth delay - hydrocephaly - lung hypoplasia | Orphanet_3035 | [Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 sibs so far and characterized by delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, omphalocele, shortness of lower limbs, bowed tibias and foot deformities.] |
| Genetic respiratory malformation | Orphanet_183622 | |
| obsolete_somite 5 | EFO_0003482 | |
| obsolete_delayed membranous cranial ossification | Orphanet_3034 | |
| obsolete_somite 1 | EFO_0003481 | |
| obsolete_trigeminal neural crest | EFO_0003484 | [Cranial neural crest which gives rise to the trigeminal ganglion.] |
| obsolete_NPHP3-related Meckel-like syndrome | Orphanet_3032 | |
| obsolete_infantile osteopetrosis with neuroaxonal dysplasia | Orphanet_85179 | |
| SE.99 maximum stem length reached stage | PO_0007109 | [The stage at which maximum stem length is reached.] |