All terms in HP
| Label | Id | Description |
|---|---|---|
| Abnormal C-peptide level | HP_0030794 | [An anomolous circulating concentration of the connecting (C) peptide, which links the insulin A and B chains in proinsulin, providing thereby a means to promote their efficient folding and assembly in the endoplasmic reticulum during insulin biosynthesis. After cleavage of proinsulin, C-peptide is stored with insulin in the soluble phase of the secretory granules and is subsequently released in equimolar amounts with insulin, providing a useful independent indicator of insulin secretion.] |
| 1-benzopyran | CHEBI_38443 | |
| Reduced volume of central subdivision of bed nucleus of stria terminalis | HP_0030797 | [A diminished volume of the central part of the bed nucleus of the stria terminalis.] |
| Short nose | HP_0003196 | [Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.] |
| Abnormality of the vestibular window | HP_0040100 | |
| Decreased muscle mass | HP_0003199 | |
| Cutaneous atresia of the external auditory canal | HP_0040101 | |
| Allergic rhinitis | HP_0003193 | [It is characterized by one or more symptoms including sneezing, itching, nasal congestion, and rhinorrhea.] |
| Short nasal bridge | HP_0003194 | |
| Morphological abnormality of the lateral semicircular canal | HP_0040106 | |
| Morphological abnormality of the posterior semicircular canal | HP_0040107 | |
| Morphological abnormality of the anterior semicircular canal | HP_0040108 | |
| Morphological abnormality of the utricle | HP_0040109 | |
| Osseous atresia of the external auditory canal | HP_0040102 | |
| Cutaneous stenosis of the external auditory canal | HP_0040103 | |
| Osseous stenosis of the external auditory canal | HP_0040104 | |
| Reduced C-peptide level | HP_0030795 | [A decreased concentration of C-peptide in the circulation. Since C-peptide is secreted in equimolar amounts to insulin, this feature correlates with reduced insulin secretion.] |
| Jaw neoplasm | HP_0030792 | [A tumor originating in the jaw (mandible or maxilla).] |
| Jaw swelling | HP_0030793 | [Abnormal enlargement in the upper jaw (maxilla) or in the lower jaw (mandible).] |
| Abnormal cerumen color | HP_0030790 | [An anomolous earwax color. Earwax (cerumen) is usually light to dark brown or orange in color.] |