All terms in HP

Label Id Description
Ankle instability HP_0020309 [Failure of ligamentous and muscular structures of the ankle to maintain normal joint alignment during movement, resulting in excessive motion that causes manifestations such as subjective or objective feeling of clunking/clicking in the ankle with movement, ankle 'giving way' or sensation of ankle dislocating.]
Complete cleft of the upper lip HP_5201009 [Cleft of the upper lip that starts from the bottom of the upper lip and reaches the nasal cavity.]
Incomplete cleft soft palate HP_5201006 [Cleft soft palate in which the cleft does not go through the entire length of the soft palate, i.e. the cleft does not go from the posterior border of the hard palate until the uvula.]
Complete cleft soft palate HP_5201005 [Cleft soft palate in which the cleft goes through the entire length of the soft palate, i.e. from the posterior border of the hard palate until the uvula.]
Complete cleft maxillary alveolar ridge HP_5201008 [Cleft maxillary alveolar ridge in which the cleft goes through the entire length of the maxillary alveolar ridge.]
Incomplete cleft maxillary alveolar ridge HP_5201007 [Cleft maxillary alveolar ridge in which the cleft does not go through the entire length of the maxillary alveolar ridge.]
Recurrent encephalopathy HP_0007335 [Recurrent episodes of brain dysfunction that may be triggered by factors such as metabolic disturbances or infections.]
Abnormal cellular immune system morphology HP_0010987 [An abnormality of the morphology or counts of the cells that make up the immune system.]
Decreased circulating acid maltase activity HP_0034932 [Activity of the enzyme acid maltase (also known as alpha-1,4-glucosidase) below the lower limit of normal.]
Bilateral tonic-clonic seizure with focal onset HP_0007334 [A bilateral tonic-clonic seizure with focal onset is a focal-onset seizure which progresses into a bilateral tonic-clonic phase.]
obsolete Increased circulating ribitol concentration HP_0034933
Abnormality of the extrinsic pathway HP_0010988 [An abnormality of the extrinsic pathway (also known as the tissue factor pathway) of the coagulation cascade.]
Hypoplasia of the frontal lobes HP_0007333 [Underdevelopment of the frontal lobe of the cerebrum.]
obsolete Gonosomal inheritance HP_0010985
Focal hemifacial clonic seizure HP_0007332 [Focal seizure characterized at onset by clonic movements affecting half of the face.]
Decreased circulating 7-dehydrocholesterol concentration HP_0034935 [Concentration of 7-dehydrocholesterol in the blood circulation below the lower limit of normal.]
Elevated circulating lathosterol concentration HP_0034936 [Concentration of lathosterol in the blood circulation above the upper limit of normal.]
Elevated circulating desmosterol concentration HP_0034937 [Concentration of desmosterol in the blood circulation above the upper limit of normal.]
Decreased circulating sialic acid concentration HP_0034938 [Concentration of sialic acid in the blood circulation below the lower limit of normal.]
Purulent synovial fluid HP_0034939 [The synovial fluid (also known as synovia, i.e., the fluid found in the cavities of synovial joints) contains increased quantities of white blood cells.]