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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.] |
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positive regulation of bile acid biosynthetic process
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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.] |
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Type 1 muscle fiber predominance
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HP_0003803 |
[An abnormal predominance of type I muscle fibers (in general, this feature can only be observed on muscle biopsy).] |
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Rimmed vacuoles
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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.] |
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Late-onset distal muscle weakness
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HP_0003810 |
|
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Phenotypic variability
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HP_0003812 |
[A variability of phenotypic features.] |
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regulation of membrane lipid metabolic process
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GO_1905038 |
[Any process that modulates the frequency, rate or extent of membrane lipid metabolic process.] |
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Neonatal death
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HP_0003811 |
[Death within the first 28 days of life.] |
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distal tarsal bone 3
|
UBERON_0001454 |
[Endochondral tarsal bone articulating with centralia and metatarsal 3.] |
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distal tarsal bone 3 endochondral element
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UBERON_0015108 |
|
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cuboid bone
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UBERON_0001455 |
[A tarsal bone that is formed from distal tarsals 4 and 5. [WP,modified].] |
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face
|
UBERON_0001456 |
[A subdivision of the head that has as parts the layers deep to the surface of the anterior surface, including the mouth, eyes, and nose (when present). In vertebrates, this includes the facial skeleton and structures superficial to the facial skeleton (cheeks, mouth, eyeballs, skin of face, etc).] |
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calcaneus
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UBERON_0001450 |
[The postaxial bone of the proximal tarsals series[Phenoscape].] |
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navicular bone of pes
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UBERON_0001451 |
[The oval-shaped tarsal bone found between the talus and the 3 cuneiform bones.] |
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distal tarsal bone 1
|
UBERON_0001452 |
[Endochondral tarsal bone articulating with centralia and metatarsal 1.] |
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distal tarsal bone 1 endochondral element
|
UBERON_0015102 |
|
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distal tarsal bone 2
|
UBERON_0001453 |
[Endochondral tarsal bone articulating with centralia and metatarsal 2.] |
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distal tarsal bone 2 endochondral element
|
UBERON_0015105 |
|
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phalanx of pes
|
UBERON_0001449 |
[A phalanx that is part of a hindlimb autopod[Automatically generated definition].] |
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Death in childhood
|
HP_0003819 |
[Death in during childhood, defined here as between the ages of 2 and 10 years.] |