All terms in HP
| Label | Id | Description |
|---|---|---|
| Flared distal tibial metaphysis | HP_0030308 | [The presence of a splayed (i.e.,flared) metaphyseal segment of the distal tibia.] |
| convex | PATO_0001355 | [A shape quality that obtains by virtue of the bearer having inward facing edges; having a surface or boundary that curves or bulges outward, as the exterior of a sphere.] |
| concavity | PATO_0002005 | [Surface shape that refers to the inward or outward curvature of the surface.] |
| Hypoplasia of the epiglottis | HP_0005349 | [Hypoplasia of the epiglottis.] |
| Decreased number of vertebrae | HP_0030305 | |
| 11 thoracic vertebrae | HP_0030306 | [The presence of 11 instead of the normal 12 thoracic vertebrae.] |
| Cartilaginous trachea | HP_0005347 | |
| Hypoplastic anterior commissure | HP_0030303 | [Underdevelopment of the anterior commissure.] |
| Abnormality of the anterior commissure | HP_0030301 | [An anomaly of the anterior commissure, a bundle of nerve fibers that connect the two cerebral hemispheres across the midline. The anterior commissure plays a role in pain sensation and contains decussating fibers from the olfactory tracts.] |
| Abnormal vena cava morphology | HP_0005345 | [An abnormality of the structure of the veins that return deoxygenated blood from the body into the heart, i.e., the superior vena cava and the inferior vena cava.] |
| Abnormal morphology of the great vessels | HP_0030962 | [A structural anomaly affecting a blood vessel involved in the circulation of the heart, i.e., the superior or inferior vena cava, the pulmonary arteries, the pulmonary veins, and the aorta.] |
| Abnormal facial expression | HP_0005346 | |
| Agenesis of the anterior commissure | HP_0030302 | [Absence of the anterior commissure.] |
| negative regulation of lipid metabolic process | GO_0045833 | [Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving lipids.] |
| Hypoplasia of the bladder | HP_0005343 | [Underdevelopment of the urinary bladder.] |
| positive regulation of nucleobase-containing compound metabolic process | GO_0045935 | [Any cellular process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving nucleobases, nucleosides, nucleotides and nucleic acids.] |
| Autonomic bladder dysfunction | HP_0005341 | [Abnormal bladder function (increased urge or frequency of urination or urge incontinence) resulting from abnormal functioning of the autonomic nervous system.] |
| Spastic/hyperactive bladder | HP_0005340 | |
| negative regulation of nucleobase-containing compound metabolic process | GO_0045934 | [Any cellular process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving nucleobases, nucleosides, nucleotides and nucleic acids.] |
| Flared distal fibular metaphysis | HP_0030309 | [The presence of a splayed (i.e.,flared) metaphyseal segment of the distal fibula.] |