All terms in HP
| Label | Id | Description |
|---|---|---|
| Atonic seizures | HP_0010819 | [Seizures characterized by a sudden loss or diminution of muscle tone, which may be fragmentary, confined to a segment (limb, jaw, head), or massive, leading to a slumping to the ground .] |
| Generalized-onset seizure | HP_0002197 | [Seizures of with initial involvement of both cerebral hemispheres.] |
| Linear nevus sebaceous | HP_0010817 | [A type of nevus sebaceous with a linear form, raised borders and yellowish color.] |
| Nevus sebaceous | HP_0010815 | [A congenital, hairless plaque consisting of overgrown epidermis, sebaceous glands, hair follicles, apocrine glands and connective tissue. They are a variant of epidermal naevi. Sebaceous naevi most often appear on the scalp, but they may also arise on the face, neck or forehead. At birth, a sevaceous nevus typically appears as a solitary, smooth, yellow-orange hairless patch. Sebaceous naevi become more pronounced around adolescence, often appearing bumpy, warty or scaly.] |
| Generalized tonic seizures | HP_0010818 | [Generalized seizures with sustained increase in muscle contraction lasting a few seconds to minutes.] |
| Narrow uvula | HP_0010811 | [Decreased width of the uvula.] |
| Short uvula | HP_0010812 | [Decreased length of the uvula.] |
| Long uvula | HP_0010810 | [Increased length of the uvula.] |
| Epidermal nevus | HP_0010816 | [Epidermal naevi are due to an overgrowth of the epidermis and may be present at birth (50%) or develop during childhood.] |
| Abnormal number of hair whorls | HP_0010813 | [More than two clockwise hair whorls.] |
| Abnormal position of hair whorl | HP_0010814 | [Hair growth from a single point on the scalp in any location other than lateral to the midline and close to the vertex of the skull.] |
| Lower limb peromelia | HP_0009820 | [Peromelia affecting only the lower limbs. That is, the distal parts of the leg are missing leading to stump formation.] |
| Peromelia | HP_0009828 | [The distal parts of the limbs are missing leading to a stump formation.] |
| Forearm undergrowth | HP_0009821 | [Forearm shortening because of underdevelopment of one or more bones of the forearm.] |
| Aplasia/hypoplasia involving forearm bones | HP_0006503 | [Absence (due to failure to form) or underdevelopment of one or more forearm bones.] |
| Aplasia involving forearm bones | HP_0009822 | |
| Absent forearm bone | HP_0003953 | [Absence of one or more forearm bones associated with congenital failure of development.] |
| Aplasia/hypoplasia involving bones of the upper limbs | HP_0006496 | [Absence (due to failure to form) or underdevelopment of the bones of the upper limbs.] |
| Aplasia involving bones of the extremities | HP_0009825 | |
| Aplasia/hypoplasia involving bones of the extremities | HP_0045060 |