All terms in HP

Label Id Description
galactosidase activity GO_0015925 [Catalysis of the hydrolysis of galactosyl compounds, substances containing a group derived from a cyclic form of galactose or a galactose derivative.]
Enlargement of the wrists HP_0003020
Bowing of limbs due to multiple fractures HP_0003023 [Curvature of the shafts of the long bones due to multiple fractures.]
Talocalcaneal synostosis HP_0005682
Tarsal synostosis HP_0008368 [Synostosis (bony fusion) involving one or more bones of the tarsus (calcaneus, talus, cuboid, navicular, cuneiiform bones).]
Aplasia/Hypoplasia of the ulna HP_0006495 [Absence or underdevelopment of the ulna.]
Tongue-like lumbar vertebral deformities HP_0005680 [A tongue-like protusion from the anterior aspect of lumbar vertebral bodies.]
Anterior beaking of lumbar vertebrae HP_0008430 [Anterior tongue-like protrusions of the vertebral bodies of the lumbar spine.]
Juvenile rheumatoid arthritis HP_0005681
Rheumatoid arthritis HP_0001370 [Inflammatory changes in the synovial membranes and articular structures with widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, as well as atrophy and rarefaction of bony structures.]
Complete congenital stationary night blindness HP_0030640
Congenital stationary night blindness with normal fundus HP_0030638
Incomplete congenital stationary night blindness HP_0030641
limb posture NBO_0000357
posture NBO_0000355
body posture NBO_0000356
venule of anorectum UBERON_8410008 [A venule that is located in the anorectum.]
Congenital stationary cone dysfunction HP_0030637 [Retinal phenotype characterized by cone photoreceptor dysfunction and preserved rod system. The abnormality is typically stationary or very slowly progressive and findings may include reduced central vision, color vision abnormalities, nystagmus and photophobia.]
Retinal dystrophy with early macular involvement HP_0030635
Occult macular dystrophy HP_0030636 [Occult macular dystrophy is a, typically hereditary, abnormality of the macula associated with progressive foveal cone dysfunction and no apparent fundoscopic, full-field electroretinogram (ERG), or fluorescein angiogram abnormalities.]