All terms in HP
| Label | Id | Description |
|---|---|---|
| Decreased urinary sulfate | HP_0003359 | [Decreased concentration of sulfate in the urine.] |
| Elevated intracellular cystine | HP_0003358 | [An increased concentration of cystine within cells. This finding can be demonstrated on leukocytes, but is not specific to blood cells.] |
| Ventricular septal aneurysm | HP_0030957 | [A bowing (bulging to one side) of the interventricular septum of more than 15 mm on either side in adults and 5 mm in children during normal cardiac motion.] |
| Alcoholism | HP_0030955 | [An addictive behavior defined as drinking excessive amounts of alcohol over a long period of time, having difficulty reducing the amount of alcohol consumed, strongly desiring alcohol and experiencing withdrawal symptoms when not drinking alcohol.] |
| Birdshot choroidal lesions | HP_0030952 | [Multiple cream-yellow colored hypopigmented choroidal anomalies whose size is approximately one quarter to one half of that of the optic disc, and whose location tends to cluster around the optic nerve radiating towards the periphery. The pattern of the lesions is said to be similar to gunshot spatter from birdshot.] |
| ceramide metabolic process | GO_0006672 | [The chemical reactions and pathways involving ceramides, any N-acylated sphingoid.] |
| Hyperthreoninemia | HP_0003354 | [An increased concentration of threonine in the blood.] |
| Conjunctival hyperemia | HP_0030953 | [Dilatation of the blood vessels of the conjunctiva leading to a red appearance of the sclera.] |
| Thymic hormone decreased | HP_0003357 | [A reduction in the level of thymic horomone.] |
| Pulmonary venous hypertension | HP_0030950 | [An abnormal increase in pressure in the pulmonary veins, usually as a result of left atrial hypertension.] |
| Skeletal muscle fibrosis | HP_0030951 | [Excessive formation of fibrous bands of scar tissue in between muscle fibers.] |
| Decreased circulating renin level | HP_0003351 | [An decreased level of renin in the blood.] |
| Propionyl-CoA carboxylase deficiency | HP_0003353 | [An abnormality of amino acid metabolism characterized by a decreased rate of propionyl-CoA carboxylase activity.] |
| Endopolyploidy on chromosome studies of bone marrow | HP_0003352 | [An increase in the number of chromosome sets per cell in bone marrow cells.] |
| Membranous ventricular septal aneurysm | HP_0030958 | [Bowing (bulging out) of the membranous part of the interventricular septum of more than 10-15 mm into the cavity of an adjacent ventricle (usually into the right ventricle).] |
| Muscular ventricular septal aneurysm | HP_0030959 | [Bowing (bulging out) of the muscular part of the interventricular septum of more than 10-15 mm into the cavity of an adjacent ventricle (usually into the right ventricle).] |
| notochordal canal | UBERON_0013704 | [A tubular passage that extends from the primitive pit into the head process during the early stages of embryonic development in mammals. It perforates the splanchnopleure layer so that the yolk sac and the amnion are connected temporarily.] |
| main body axis | UBERON_0013701 | [A principle subdivision of an organism that includes all structures along the primary axis, typically the anterior-posterior axis, from head to tail, including structures of the body proper where present (for example, ribs), but excluding appendages.] |
| mitochondrial DNA repair | GO_0043504 | [The process of restoring mitochondrial DNA after damage.] |
| L-serine metabolic process | GO_0006563 | [The chemical reactions and pathways involving L-serine, the L-enantiomer of serine, i.e. (2S)-2-amino-3-hydroxypropanoic acid.] |