All terms in HP
| Label | Id | Description |
|---|---|---|
| Membranoproliferative glomerulonephritis | HP_0000793 | [A type of glomerulonephritis characterized by diffuse mesangial cell proliferation and the thickening of capillary walls due to subendothelial extension of the mesangium. The term membranoproliferative glomerulonephritis is often employed to denote a general pattern of glomerular injury seen in a variety of disease processes that share a common pathogenetic mechanism, rather than to describe a single disease entity] |
| IgA deposition in the glomerulus | HP_0000794 | [The presence of immunoglobulin A deposits in the glomerulus.] |
| Abnormality of the epiphyses of the hallux | HP_0010056 | |
| Transient hearing impairment | HP_0012779 | [Hearing loss that occurs acutely and resolves completely.] |
| Retinal astrocytic hamartoma | HP_0012778 | [A glial tumor of the retinal nerve fiber layer arising from a retinal astrocyte.] |
| Retinal hamartoma | HP_0009594 | [A hamartoma (a benign, focal malformation consisting of a disorganized mixture of cells and tissues) of the retina.] |
| Hand muscle atrophy | HP_0009130 | [Muscular atrophy involving the muscles of the hand.] |
| Distal upper limb amyotrophy | HP_0007149 | [Muscular atrophy of distal arm muscles.] |
| Aplasia/Hypoplasia of the phalanges of the hallux | HP_0010058 | |
| Aplasia of the phalanges of the toes | HP_0010745 | [Absence of a digit or of one or more phalanges of a toe.] |
| Reduced upper to lower segment ratio | HP_0012773 | [Decreased ratio between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis.] |
| Abnormal upper to lower segment ratio | HP_0012772 | [A deviation from normal of the relation between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis.] |
| Shortening of all phalanges of the toes | HP_0005035 | [Developmental hypoplasia (shortening) of all phalanges of the foot.] |
| Hypoplasia of the phalanges of the toes | HP_0010746 | |
| Increased arm span | HP_0012771 | [Increased length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle).] |
| Mixed hypo- and hyperpigmentation of the skin | HP_0009123 | |
| Hypopigmentation of the skin | HP_0001010 | [A reduction of skin color related to a decrease in melanin production and deposition.] |
| Hyperpigmentation of the skin | HP_0000953 | [A darkening of the skin related to an increase in melanin production and deposition.] |
| Reduced arm span | HP_0012770 | [Decreased length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle).] |
| Retinal neoplasm | HP_0012777 | [A tumor (abnormal growth of tissue) of the retina.] |