All terms in HP
| Label | Id | Description |
|---|---|---|
| Reduced brain lactate level by MRS | HP_0025046 | [A decrease in the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS).] |
| Fundus atrophy | HP_0001099 | |
| Hypertensive retinopathy | HP_0001095 | |
| Thalamic edema | HP_0025040 | [Swelling within the thalamus due to the accumulation of fluid.] |
| Keratoconjunctivitis | HP_0001096 | [Inflammation of the cornea and conjunctiva.] |
| Thalamic calcification | HP_0025041 | [Calcium deposition in the thalamus.] |
| Keratoconjunctivitis sicca | HP_0001097 | [Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids.] |
| Lung abscess | HP_0025044 | [A circumscribed area of pus or necrotic debris in lung parenchyma, which leads to a cavity, and after formation of bronchopulmonary fistula, can manifest as an air-fluid level inside the cavity.] |
| Absent lacrimal punctum | HP_0001092 | [No identifiable superior and/or inferior lacrimal punctum.] |
| Optic nerve dysplasia | HP_0001093 | [The presence of developmental dysplasia of the optic nerve.] |
| Abnormality of mesenteric lymph nodes | HP_0025042 | [A morphological anomaly of lymph nodes in the mesenteric root or throughout the mesentery.] |
| peptide metabolic process | GO_0006518 | [The chemical reactions and pathways involving peptides, compounds of two or more amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another.] |
| Iridocyclitis | HP_0001094 | [A type of anterior uveitis, in which there is Inflammation of the iris and the ciliary body.] |
| Enlarged mesenteric lymph node | HP_0025043 | [Increase in size of one or more mesenteric lymph nodes.] |
| Penetrating foot ulcers | HP_0001026 | |
| Multiple mitochondrial DNA deletions | HP_0003689 | [The presence of multiple deletions of mitochondrial DNA (mtDNA).] |
| Cytochrome C oxidase-negative muscle fibers | HP_0003688 | [An abnormally reduced activity of the enzyme cytochrome C oxidase in muscle tissue.] |
| Soft, doughy skin | HP_0001027 | [A skin texture that is unusually soft (and may feel silky), and has a malleable consistency resembling that of dough.] |
| Poikiloderma | HP_0001029 | [Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias.] |
| Albinism | HP_0001022 | [An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina).] |