All terms in HP
| Label | Id | Description |
|---|---|---|
| negative regulation of bile acid biosynthetic process | GO_0070858 | [Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of bile acids.] |
| cuneate | PATO_0001955 | [A shape quality inhering in a bearer by virtue of the bearer's being narrowly triangular, wider at the apex and tapering toward the base.] |
| positive regulation of bile acid biosynthetic process | GO_0070859 | [Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of bile acids.] |
| Type 1 muscle fiber predominance | HP_0003803 | [An abnormal predominance of type I muscle fibers (in general, this feature can only be observed on muscle biopsy).] |
| Rimmed vacuoles | HP_0003805 | [Presence of abnormal vacuoles (membrane-bound organelles) in the sarcolemma. On histological staining with hematoxylin and eosin, rimmed vacuoles are popcorn-like clear vacuoles with a densely blue rim. The vacuoles are often associated with cytoplasmic and occasionally intranuclear eosinophilic inclusions.] |
| Late-onset distal muscle weakness | HP_0003810 | |
| Phenotypic variability | HP_0003812 | [A variability of phenotypic features.] |
| regulation of membrane lipid metabolic process | GO_1905038 | [Any process that modulates the frequency, rate or extent of membrane lipid metabolic process.] |
| Neonatal death | HP_0003811 | [Death within the first 28 days of life.] |
| Age of death | HP_0011420 | [The age group when the cessation of life happens.] |
| distal tarsal bone 1 endochondral element | UBERON_0015102 | |
| distal tarsal bone 1 cartilage | UBERON_0015103 | [A distal tarsal bone 1 endochondral element that is composed primarily of cartilage tissue.] |
| phalanx of pes | UBERON_0001449 | [A phalanx that is part of a hindlimb autopod[Automatically generated definition].] |
| Death in childhood | HP_0003819 | [Death in during childhood, defined here as between the ages of 2 and 10 years.] |
| interleukin-2 receptor subunit alpha (mouse) | PR_P01590 | [An interleukin-2 receptor subunit alpha that is encoded in the genome of mouse.] |
| anatomical point connecting sagittal and lambdoidal sutures | UBERON_0013424 | [The occipital angle is rounded and corresponds with the point of meeting of the sagittal and lambdoidal sutures-a point which is termed the lambda (after the Greek letter of the same name); in the fetus this part of the skull is membranous, and is called the posterior fontanelle.] |
| pseudopodium organization | GO_0031268 | [A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a pseudopodium, a temporary protrusion or retractile process of a cell, associated with cellular movement.] |
| pedal digit plus metapodial segment | UBERON_5001466 | [A subdivision of the autopod consisting of pedal digit plus the region incorporating a single metapodial element. These segments are typically repeated along the pre-axiom to post-axial axis.] |
| manual digit 1 plus metapodial segment | UBERON_5001463 | [A subdivision of the autopod consisting of manual digit 1 plus the region incorporating a single metapodial element. These segments are typically repeated along the pre-axiom to post-axial axis.] |
| rhomboid | PATO_0001938 | [A spheroid quality inhering in a bearer by virtue of the bearer's being oval and a little angular in the middle.] |