All terms in HP
| Label | Id | Description |
|---|---|---|
| Premature epimetaphyseal fusion in foot | HP_0012563 | [Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the foot, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.] |
| Premature epimetaphyseal fusion in hand | HP_0012562 | [Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the hand, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.] |
| Unicuspid aortic valve | HP_0012561 | [The presence of an aortic valve with one instead of the normal three cusps (flaps).] |
| Abnormal aortic valve cusp morphology | HP_0031567 | [Any structural anomaly of the aortic valve leaflets.] |
| Lower eyelid edema | HP_0012568 | [Edema in the region of the Lower eyelid.] |
| Palpebral edema | HP_0100540 | [Edema in the region of the eyelids.] |
| Premature epimetaphyseal fusion in ulna | HP_0012567 | [Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the ulna, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.] |
| Premature epimetaphyseal fusion in radius | HP_0012566 | [Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the radius, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.] |
| Premature epimetaphyseal fusion in fibula | HP_0012565 | [Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the fibula, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.] |
| skeletal element projection | UBERON_4100000 | [Anatomical projection that is composed of bone or cartilage tissue.] |
| anatomical projection | UBERON_0004529 | [A projection or outgrowth of tissue from a larger body or organ.] |
| skeletal element | UBERON_0004765 | [Organ consisting of skeletal tissue. Encompasses whole bones, fused bones, cartilaginious elements, teeth, dermal denticles.] |
| Decreased T3/T4 ratio | HP_0012560 | [A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that is lower than normal.] |
| Abnormality of the ear | HP_0000598 | [An abnormality of the ear.] |
| Abnormality of the hairline | HP_0009553 | [The hairline refers to the outline of hair of the head. An abnormality of the hairline can refer to an unusually low or high border between areas of the scalp with and without hair or to abnormal projections of scalp hair.] |
| Shallow anterior chamber | HP_0000594 | [Reduced depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is decreased.] |
| Progressive external ophthalmoplegia | HP_0000590 | [Initial bilateral ptosis followed by limitation of eye movements in all directions and slowing of saccades.] |
| External ophthalmoplegia | HP_0000544 | [Paralysis of the external ocular muscles.] |
| Abnormal sclera morphology | HP_0000591 | [An abnormality of the sclera.] |
| Blue sclerae | HP_0000592 | [An abnormal bluish coloration of the sclera.] |