| Monarch Ortholog Phenotypes
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Human (35 sources):
Anteverted nares,
Aortic valve stenosis,
Camptodactyly of finger,
Congestive heart failure,
Coxa valga,
Global developmental delay,
Hepatomegaly,
High pitched voice,
Hypoplasia of the capital femoral epiphysis,
Irregular capital femoral epiphysis,
J-shaped sella turcica,
Joint contracture of the hand,
Joint stiffness,
Lack of skin elasticity,
Long philtrum,
Mitral stenosis,
Osteopenia,
Pectus excavatum,
Round face,
Seizure,
Short foot,
Short long bone,
Short metacarpals with rounded proximal ends,
Short nose,
Short palm,
Short stature,
Small nail,
Smooth philtrum,
Thickened helices,
Thickened skin,
Tracheal stenosis,
Tricuspid stenosis,
Upslanted palpebral fissure,
Wide mouth,
Wrist flexion contracture
[+]
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Mouse (8 sources):
abnormal bronchus epithelium morphology,
abnormal calcaneal tendon morphology,
abnormal long bone diaphysis morphology,
abnormal long bone metaphysis morphology,
abnormal tendon cell morphology,
abnormal tendon collagen fibril morphology,
muscle phenotype,
short radius
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View all ortholog results at Monarch
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Gene expression phenotype annotations where the gene of interest has been
disrupted (manipulated) or is the gene assayed (assayed). Computed annotations are derived from
differential expression analysis from Xenbase processed GEO data with the criteria of a TPM >= 1,
FDR <= 0.05 and an absolute LogFC >= 2.