Terminology Service for NFDI4Health
All terms in HP
| Label | Id | Description |
|---|---|---|
| Tessier number 8 facial cleft | HP_0031580 | [The frontozygomatic or Number 8 cleft is found in both Treacher Collins syndrome and the Goldenhar variant of hemifacial microsomia. Skeletal defects are more prominent in Treacher Collins syndrome, whereas the soft tissue clefting is more typical in cases of ''Goldenhar syndrome''. Soft tissue clefting presents as a dermatocele, a true lateral eyelid coloboma with absence of the outer canthus, and anomalies of the globe itself, especially epibulbar cysts in patients with Goldenhar syndrome. The frontozygomatic bony cleft produces absence of the lateral orbital rim; this border now is formed by the hypoplastic greater wing of the sphenoid. The absence of bony support for the outer canthus produces lateral canthal dystopia and the characteristic antimongoloid slant of the palpebral fissures. Secondary to the bony deficiency in the lateral orbital wall and floor, there is soft tissue continuity between the orbit, temporal fossa, and infratemporal region. Preauricular hairline indicators delineate the Number 8 cleft as the first of the northbound clefts. Complete absence of the bony lateral orbital wall and rim constitute the skeletal element of the Number 8 cleft. The lateral border of the orbit is formed by the greater wing of the sphenoid from which small spicules of bone, which represent the rudimentary zygoma, may be found in Treacher Collins syndrome. The symmetry of the facial anomalies is reflected in the apparently normal symmetric anterior and middle cranial fossae.] |
| Tessier number 9 facial cleft | HP_0031581 | [This is an upper lateral orbital cleft. The soft tissue deformity is in the lateral one-third of the upper eyelid, and the bony cleft is through the superolateral orbital angle. Microphthalmia is present. The superolateral bony deficiency of the orbits allows a lateral displacement of the globes. The lateral one-third of the upper eyelid and the outer canthus are distorted, thus preventing apposition to the globe. The upper eyelid does not have a true cleft. A soft tissue furrow radiates superiorly and posterisphenoid is symmetric and normal. Mild cranial base asymmetry is reflected in the pterygoid plates. The left pair is more laterally displaced from the midline. Skull vault plagiocephaly is evident with an apparent reduction in the anteroposterior dimension of the anterior cranial fossa.] |
| gamete | CL_0000300 | [A mature sexual reproductive cell having a single set of unpaired chromosomes.] |
| crystallin accumulating cell | CL_0000306 | |
| tracheal epithelial cell | CL_0000307 | [An epithelial cell found in the trachea.] |
| epithelial cell of tracheobronchial tree | CL_0002202 | [An epithelial cell of the tracheobronchial tree.] |
| tracheoblast | CL_0000377 | |
| sebum secreting cell | CL_0000317 | [A cell secreting sebun, an oily substance secreted by sebaceous glands, composed of keratin, fat, and cellular debris.] |
| DNA nucleotidylexotransferase (mouse) | PR_P09838 | [A DNA nucleotidylexotransferase that is encoded in the genome of mouse.] |
| monocyte differentiation antigen CD14 (mouse) | PR_P10810 | [A CD14 molecule that is encoded in the genome of mouse.] |
| rhombomere roof plate | UBERON_0005502 | |
| rhombomere lateral wall | UBERON_0005501 | [A neural tube lateral wall that is part of a rhombomere.] |
| gas transport | GO_0015669 | [The directed movement of substances that are gaseous in normal living conditions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.] |
| branched duct epithelial cell | CL_0000069 | |
| lymphocyte antigen 6C2 (mouse) | PR_P0CW03 | [A lymphocyte antigen 6C2 that is encoded in the genome of mouse.] |
| Alveolar proteinosis | HP_0006517 | [Abnormal accumulation of surfactant-like, periodic acid-schiff-positive lipoproteinaceous material in macrophages within the alveolar spaces and distal bronchioles. This results in gas exchange impairment leading to dyspnea and alveolar infiltrates.] |
| Pulmonary venous occlusion | HP_0006518 | [Substantial narrowing or blockage of small pulmonary veins as a result of disorganized smooth muscle hypertrophy and collagen matrix deposition.] |
| Interstitial pneumonitis | HP_0006515 | |
| Hypersensitivity pneumonitis | HP_0006516 | |
| Intraalveolar nodular calcifications | HP_0006514 |